#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
A2ML1	144568	genome.wustl.edu	37	12	8975871	8975871	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:8975871C>A	ENST00000299698.7	+	2	336	c.156C>A	c.(154-156)ttC>ttA	p.F52L	A2ML1-AS1_ENST00000537288.1_RNA|A2ML1-AS2_ENST00000394240.3_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATGTTAAATTCACGGTTACTC	0.453																																						dbGAP											0													107.0	106.0	106.0					12																	8975871		1890	4111	6001	-	-	-	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.156C>A	12.37:g.8975871C>A	ENSP00000299698:p.Phe52Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F52L	ENST00000299698.7	37	c.156	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	C	6.477	0.456203	0.12283	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.25912	1.77	4.25	0.468	0.16732	.	0.000000	0.42548	D	0.000691	T	0.10035	0.0246	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.20571	-1.0271	10	0.18710	T	0.47	.	6.5897	0.22639	0.0:0.5989:0.0:0.4011	.	52	A8K2U0	A2ML1_HUMAN	L	52	ENSP00000299698:F52L	ENSP00000299698:F52L	F	+	3	2	A2ML1	8867138	0.961000	0.32948	0.897000	0.35233	0.599000	0.36880	-0.025000	0.12413	0.080000	0.16959	0.563000	0.77884	TTC	A2ML1	-	NULL	ENSG00000166535		0.453	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	246	0.00	0	C	NM_144670		8975871	8975871	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	missense	205	15.98	39	SNP	0.929	A
AADAC	13	genome.wustl.edu	37	3	151545640	151545640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:151545640G>T	ENST00000232892.7	+	5	1006	c.880G>T	c.(880-882)Gga>Tga	p.G294*	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	294					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTTATAAAAGGACATGTTTA	0.413																																					Ovarian(30;839 841 2699 32801 46334)	dbGAP											0													49.0	51.0	50.0					3																	151545640		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.880G>T	3.37:g.151545640G>T	ENSP00000232892:p.Gly294*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3L3|D3DNJ6|Q8N1A9	Nonsense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase	p.G294*	ENST00000232892.7	37	c.880	CCDS33877.1	3	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289545	0.59976	.	.	ENSG00000114771	ENST00000232892	.	.	.	4.81	3.92	0.45320	.	0.291649	0.38959	N	0.001501	.	.	.	.	.	.	0.46609	D	0.999122	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-4.6852	9.1768	0.37116	0.0796:0.1456:0.7748:0.0	.	.	.	.	X	294	.	ENSP00000232892:G294X	G	+	1	0	AADAC	153028330	0.980000	0.34600	0.177000	0.23020	0.283000	0.27025	2.231000	0.43009	0.965000	0.38133	0.591000	0.81541	GGA	AADAC	-	pirsf_Arylacetamide_deacetylase	ENSG00000114771		0.413	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADAC	HGNC	protein_coding	OTTHUMT00000357883.2	59	0.00	0	G	NM_001086		151545640	151545640	+1	no_errors	ENST00000232892	ensembl	human	known	69_37n	nonsense	37	22.92	11	SNP	0.612	T
AAK1	22848	genome.wustl.edu	37	2	69723169	69723169	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:69723169C>T	ENST00000409085.4	-	17	2689	c.2313G>A	c.(2311-2313)ccG>ccA	p.P771P	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Silent_p.P771P	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	771			P -> R (in dbSNP:rs34422616). {ECO:0000269|PubMed:17344846}.		endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CGCTTAGAAGCGGGAGGCCAG	0.483																																						dbGAP											0													52.0	59.0	57.0					2																	69723169		1921	4066	5987	-	-	-	SO:0001819	synonymous_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2313G>A	2.37:g.69723169C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P771	ENST00000409085.4	37	c.2313	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.483	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	723	0.28	2	C	NM_014911		69723169	69723169	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	silent	543	12.68	79	SNP	0.681	T
AAK1	22848	genome.wustl.edu	37	2	69757169	69757169	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:69757169C>T	ENST00000409085.4	-	8	1218	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	AAK1_ENST00000409068.1_Missense_Mutation_p.R281Q|AAK1_ENST00000406297.3_Missense_Mutation_p.R281Q|AAK1_ENST00000470281.1_5'Flank	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TTGAGAATATCGAGAATTATC	0.333																																						dbGAP											0													52.0	49.0	50.0					2																	69757169		1827	4086	5913	-	-	-	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.842G>A	2.37:g.69757169C>T	ENSP00000386456:p.Arg281Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R281Q	ENST00000409085.4	37	c.842	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985711	0.74589	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.64991	-0.13;-0.13;-0.13	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	N	0.11106	0.095	0.80722	D	1	P;P;D	0.76494	0.944;0.853;0.999	P;B;D	0.80764	0.667;0.354;0.994	T	0.70536	-0.4845	10	0.52906	T	0.07	-12.0684	18.0042	0.89205	0.0:1.0:0.0:0.0	.	281;281;281	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	Q	281	ENSP00000386342:R281Q;ENSP00000386456:R281Q;ENSP00000385181:R281Q	ENSP00000385181:R281Q	R	-	2	0	AAK1	69610673	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.639000	0.83342	2.729000	0.93468	0.467000	0.42956	CGA	AAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000115977		0.333	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	240	0.00	0	C	NM_014911		69757169	69757169	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	missense	158	33.61	80	SNP	1.000	T
AATF	26574	genome.wustl.edu	37	17	35345829	35345829	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:35345829C>A	ENST00000225402.5	+	6	1210	c.959C>A	c.(958-960)tCt>tAt	p.S320Y		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	320	RB1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GAGGAGATTTCTAGTGAAGAT	0.403																																					NSCLC(49;901 1159 19183 41572 46244)	dbGAP											0													53.0	55.0	55.0					17																	35345829		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.959C>A	17.37:g.35345829C>A	ENSP00000225402:p.Ser320Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	pfam_AATF_C	p.S320Y	ENST00000225402.5	37	c.959	CCDS32632.1	17	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513176	0.44660	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.36	5.36	0.76844	.	0.426260	0.28082	N	0.016667	T	0.56455	0.1986	L	0.59436	1.845	0.27243	N	0.959095	D	0.55800	0.973	P	0.54174	0.744	T	0.53258	-0.8464	9	0.36615	T	0.2	-3.0251	14.3349	0.66581	0.0:0.9267:0.0:0.0733	.	320	Q9NY61	AATF_HUMAN	Y	320	.	ENSP00000225402:S320Y	S	+	2	0	AATF	32419942	0.996000	0.38824	0.252000	0.24328	0.671000	0.39405	2.835000	0.48175	2.518000	0.84900	0.561000	0.74099	TCT	AATF	-	NULL	ENSG00000108270		0.403	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	215	0.00	0	C	NM_012138		35345829	35345829	+1	no_errors	ENST00000225402	ensembl	human	known	69_37n	missense	119	36.17	68	SNP	0.008	A
ABCA1	19	genome.wustl.edu	37	9	107566907	107566907	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:107566907C>A	ENST00000374736.3	-	32	4953	c.4559G>T	c.(4558-4560)aGc>aTc	p.S1520I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1520					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AAAAAGTCACCTTTTGGCTAT	0.398																																						dbGAP											0													182.0	167.0	172.0					9																	107566907		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4559+1G>T	9.37:g.107566907C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1520I	ENST00000374736.3	37	c.4559	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919524	0.92249	.	.	ENSG00000165029	ENST00000374736	D	0.95238	-3.65	6.17	6.17	0.99709	.	0.036062	0.85682	D	0.000000	D	0.97374	0.9141	M	0.83012	2.62	0.80722	D	1	D	0.59767	0.986	D	0.64877	0.93	D	0.96504	0.9373	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1520	O95477	ABCA1_HUMAN	I	1520	ENSP00000363868:S1520I	.	S	-	2	0	ABCA1	106606728	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.088000	0.71371	2.941000	0.99782	0.655000	0.94253	AGC	ABCA1	-	NULL	ENSG00000165029		0.398	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	325	0.00	0	C	NM_005502	Missense_Mutation	107566907	107566907	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	200	13.42	31	SNP	1.000	A
ABCA1	19	genome.wustl.edu	37	9	107645361	107645361	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:107645361T>G	ENST00000374736.3	-	5	774	c.380A>C	c.(379-381)aAa>aCa	p.K127T	ABCA1_ENST00000374733.1_Missense_Mutation_p.K67T|ABCA1_ENST00000423487.2_Missense_Mutation_p.K127T	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	127					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCTCAGAACTTTGCGCATGTC	0.448																																						dbGAP											0													163.0	154.0	157.0					9																	107645361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.380A>C	9.37:g.107645361T>G	ENSP00000363868:p.Lys127Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K127T	ENST00000374736.3	37	c.380	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844590	0.32606	.	.	ENSG00000165029	ENST00000374736;ENST00000423487;ENST00000374733	D;D;D	0.96992	-4.2;-4.2;-4.2	5.49	4.35	0.52113	.	0.292702	0.42294	D	0.000732	D	0.90734	0.7092	N	0.05441	-0.05	0.38065	D	0.936192	P;B	0.37663	0.604;0.002	B;B	0.41510	0.359;0.007	D	0.89065	0.3465	10	0.25751	T	0.34	.	11.3968	0.49847	0.0:0.071:0.0:0.929	.	67;127	B1AMI1;O95477	.;ABCA1_HUMAN	T	127;127;67	ENSP00000363868:K127T;ENSP00000416623:K127T;ENSP00000363865:K67T	ENSP00000363865:K67T	K	-	2	0	ABCA1	106685182	0.986000	0.35501	0.832000	0.32986	0.897000	0.52465	3.425000	0.52771	1.025000	0.39708	0.533000	0.62120	AAA	ABCA1	-	NULL	ENSG00000165029		0.448	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	374	0.00	0	T	NM_005502		107645361	107645361	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	241	16.32	47	SNP	1.000	G
ABCA10	10349	genome.wustl.edu	37	17	67190043	67190043	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:67190043T>G	ENST00000269081.4	-	14	2342	c.1433A>C	c.(1432-1434)aAt>aCt	p.N478T	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	478	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATTGAAAATTGAACTGTGG	0.348																																						dbGAP											0													119.0	123.0	122.0					17																	67190043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1433A>C	17.37:g.67190043T>G	ENSP00000269081:p.Asn478Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N478T	ENST00000269081.4	37	c.1433	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	t	16.42	3.119220	0.56505	.	.	ENSG00000154263	ENST00000269081	T	0.38401	1.14	3.71	2.62	0.31277	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.499129	0.14501	U	0.315716	T	0.48295	0.1492	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.73380	0.98;0.964	T	0.38824	-0.9643	10	0.87932	D	0	.	8.9775	0.35944	0.0:0.0904:0.0:0.9096	.	478;478	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	T	478	ENSP00000269081:N478T	ENSP00000269081:N478T	N	-	2	0	ABCA10	64701638	0.859000	0.29813	0.005000	0.12908	0.935000	0.57460	4.196000	0.58407	0.485000	0.27652	-0.377000	0.06932	AAT	ABCA10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154263		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	311	0.00	0	T	NM_080282		67190043	67190043	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	missense	180	13.04	27	SNP	0.971	G
ZNF721	170960	genome.wustl.edu	37	4	419884	419884	+	IGR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:419884C>A	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTAAATAATCTTTACCAAAC	0.428																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419884C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-	ENSG00000251595		0.428	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	377	0.00	0	C	NM_133474		419884	419884	-1	no_errors	ENST00000451020	ensembl	human	known	69_37n	rna	208	12.24	29	SNP	0.966	A
ABCA12	26154	genome.wustl.edu	37	2	215818620	215818620	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:215818620G>A	ENST00000272895.7	-	44	6824	c.6605C>T	c.(6604-6606)tCc>tTc	p.S2202F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1884F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2202					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCGCAAGGAAAAAAACAT	0.348																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													85.0	78.0	80.0					2																	215818620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6605C>T	2.37:g.215818620G>A	ENSP00000272895:p.Ser2202Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2202F	ENST00000272895.7	37	c.6605	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	0.073	-1.198976	0.01581	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88201	-2.35;-2.35	5.66	0.449	0.16619	.	1.443630	0.03808	N	0.265418	T	0.72128	0.3422	N	0.01640	-0.785	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.61969	-0.6953	10	0.29301	T	0.29	.	6.2533	0.20859	0.5317:0.2273:0.241:0.0	.	2202;1884	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	2202;1884	ENSP00000272895:S2202F;ENSP00000374312:S1884F	ENSP00000272895:S2202F	S	-	2	0	ABCA12	215526865	0.006000	0.16342	0.176000	0.23000	0.159000	0.22180	1.319000	0.33655	-0.079000	0.12707	-0.295000	0.09555	TCC	ABCA12	-	NULL	ENSG00000144452		0.348	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	210	0.00	0	G	NM_173076		215818620	215818620	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	119	13.14	18	SNP	0.003	A
ABCA13	154664	genome.wustl.edu	37	7	48416085	48416085	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:48416085A>G	ENST00000435803.1	+	35	11275	c.11251A>G	c.(11251-11253)Aca>Gca	p.T3751A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3751					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGGGGCATGACATTTGGCTG	0.408																																						dbGAP											0													149.0	138.0	141.0					7																	48416085		1855	4104	5959	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11251A>G	7.37:g.48416085A>G	ENSP00000411096:p.Thr3751Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T3751A	ENST00000435803.1	37	c.11251	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394426	0.62066	.	.	ENSG00000179869	ENST00000435803	D	0.86366	-2.11	5.66	3.31	0.37934	.	0.000000	0.51477	D	0.000082	D	0.87285	0.6139	M	0.79475	2.455	0.80722	D	1	P;P	0.38129	0.547;0.619	B;B	0.42062	0.374;0.323	D	0.84998	0.0898	10	0.72032	D	0.01	.	9.1798	0.37134	0.8532:0.0:0.1468:0.0	.	1453;3751	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	A	3751	ENSP00000411096:T3751A	ENSP00000411096:T3751A	T	+	1	0	ABCA13	48386631	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	3.945000	0.56637	0.436000	0.26393	0.528000	0.53228	ACA	ABCA13	-	NULL	ENSG00000179869		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	467	0.00	0	A	NM_152701		48416085	48416085	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	236	11.90	32	SNP	1.000	G
ABCA4	24	genome.wustl.edu	37	1	94488947	94488947	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94488947T>C	ENST00000370225.3	-	32	4748	c.4662A>G	c.(4660-4662)gaA>gaG	p.E1554E		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1554					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.E1554E(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTACCTCTGTTCATTGACCC	0.343																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											60.0	58.0	59.0					1																	94488947		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4662A>G	1.37:g.94488947T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.E1554	ENST00000370225.3	37	c.4662	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.343	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	259	0.00	0	T	NM_000350		94488947	94488947	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	silent	167	11.17	21	SNP	1.000	C
ABCA6	23460	genome.wustl.edu	37	17	67083574	67083574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:67083574C>A	ENST00000284425.2	-	29	3913	c.3739G>T	c.(3739-3741)Gaa>Taa	p.E1247*	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1247					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCTATGGGTTCTTCTGGATTT	0.373																																						dbGAP											0													244.0	238.0	240.0					17																	67083574		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3739G>T	17.37:g.67083574C>A	ENSP00000284425:p.Glu1247*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E1247*	ENST00000284425.2	37	c.3739	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	43	9.879906	0.99286	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	.	.	.	4.81	2.75	0.32379	.	0.275470	0.25383	N	0.031071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	6.5483	0.22418	0.0:0.6786:0.1524:0.169	.	.	.	.	X	1247;107	.	ENSP00000284425:E1247X	E	-	1	0	ABCA6	64595169	0.949000	0.32298	0.586000	0.28679	0.918000	0.54935	1.190000	0.32126	0.713000	0.32060	0.561000	0.74099	GAA	ABCA6	-	NULL	ENSG00000154262		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	1293	0.00	0	C	NM_080284		67083574	67083574	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	nonsense	828	14.02	135	SNP	0.867	A
ABCA6	23460	genome.wustl.edu	37	17	67119456	67119456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:67119456C>A	ENST00000284425.2	-	10	1534	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	454					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCATCGATTTCTTTCTCAATA	0.358																																						dbGAP											0													119.0	114.0	116.0					17																	67119456		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1360G>T	17.37:g.67119456C>A	ENSP00000284425:p.Glu454*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E454*	ENST00000284425.2	37	c.1360	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.753695	0.96890	.	.	ENSG00000154262	ENST00000284425	.	.	.	4.91	3.95	0.45737	.	0.135740	0.32769	N	0.005675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	9.4967	0.38993	0.0:0.8278:0.0:0.1722	.	.	.	.	X	454	.	ENSP00000284425:E454X	E	-	1	0	ABCA6	64631051	0.019000	0.18553	0.984000	0.44739	0.248000	0.25809	1.746000	0.38288	1.420000	0.47138	0.637000	0.83480	GAA	ABCA6	-	NULL	ENSG00000154262		0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	379	0.00	0	C	NM_080284		67119456	67119456	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	nonsense	190	28.84	77	SNP	0.952	A
ABCA5	23461	genome.wustl.edu	37	17	67293332	67293332	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:67293332C>T	ENST00000392676.3	-	10	1500	c.1436G>A	c.(1435-1437)aGa>aAa	p.R479K	ABCA5_ENST00000588877.1_Splice_Site_p.R479K|ABCA5_ENST00000392677.2_Splice_Site_p.R479K			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	479	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TGAACCATACCTTATGGCTTC	0.294																																						dbGAP											0													57.0	62.0	60.0					17																	67293332		2201	4294	6495	-	-	-	SO:0001630	splice_region_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.1436+1G>A	17.37:g.67293332C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R479K	ENST00000392676.3	37	c.1436	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.408530	0.96051	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.38560	1.13;1.13	5.14	5.14	0.70334	ABC transporter-like (1);	0.095949	0.45361	D	0.000372	T	0.47948	0.1473	N	0.16790	0.44	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.66196	0.942;0.91	T	0.43147	-0.9409	9	.	.	.	.	18.9664	0.92698	0.0:1.0:0.0:0.0	.	479;479	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	K	479	ENSP00000376444:R479K;ENSP00000376443:R479K	.	R	-	2	0	ABCA5	64804927	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.204000	0.77872	2.547000	0.85894	0.455000	0.32223	AGA	ABCA5	-	pfscan_ABC_transporter-like	ENSG00000154265		0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	164	0.00	0	C	NM_018672	Missense_Mutation	67293332	67293332	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	90	12.62	13	SNP	1.000	T
ABCA7	10347	genome.wustl.edu	37	19	1058728	1058728	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:1058728G>A	ENST00000263094.6	+	38	5492	c.5261G>A	c.(5260-5262)cGa>cAa	p.R1754Q	ABCA7_ENST00000435683.2_Missense_Mutation_p.R1616Q|ABCA7_ENST00000433129.1_Missense_Mutation_p.R1754Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1754					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.R1754L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGCACCGAAGCCAACTC	0.587																																						dbGAP											1	Substitution - Missense(1)	lung(1)											77.0	80.0	79.0					19																	1058728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5261G>A	19.37:g.1058728G>A	ENSP00000263094:p.Arg1754Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1754Q	ENST00000263094.6	37	c.5261	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987729	0.35036	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.87887	-2.31;-2.31	4.23	3.11	0.35812	.	.	.	.	.	T	0.76364	0.3977	N	0.19112	0.55	0.27454	N	0.953348	B;B	0.30033	0.18;0.266	B;B	0.23018	0.043;0.02	T	0.66176	-0.5989	9	0.41790	T	0.15	.	10.4017	0.44233	0.1054:0.0:0.8946:0.0	.	879;1754	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	Q	1754	ENSP00000263094:R1754Q;ENSP00000414062:R1754Q	ENSP00000263094:R1754Q	R	+	2	0	ABCA7	1009728	0.011000	0.17503	0.256000	0.24389	0.049000	0.14656	1.247000	0.32815	0.876000	0.35872	0.561000	0.74099	CGA	ABCA7	-	NULL	ENSG00000064687		0.587	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	29	0.00	0	G	NM_019112		1058728	1058728	+1	no_errors	ENST00000263094	ensembl	human	known	69_37n	missense	20	47.37	18	SNP	0.936	A
ABCA9	10350	genome.wustl.edu	37	17	66981104	66981104	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:66981104C>A	ENST00000340001.4	-	34	4512	c.4301G>T	c.(4300-4302)aGc>aTc	p.S1434I	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Intron|ABCA9_ENST00000453985.2_Missense_Mutation_p.S1396I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1434	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCCCAGGATGCTCAGCACAAA	0.587																																						dbGAP											0													134.0	117.0	123.0					17																	66981104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4301G>T	17.37:g.66981104C>A	ENSP00000342216:p.Ser1434Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1434I	ENST00000340001.4	37	c.4301	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277327	0.80580	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	T	0.13420	2.59	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.56097	D	0.000031	T	0.36580	0.0972	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10064	-1.0646	10	0.87932	D	0	.	17.5715	0.87935	0.0:1.0:0.0:0.0	.	1434	Q8IUA7	ABCA9_HUMAN	I	1434;1379	ENSP00000342216:S1434I	ENSP00000342216:S1434I	S	-	2	0	ABCA9	64492699	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.345000	0.79337	2.481000	0.83766	0.563000	0.77884	AGC	ABCA9	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154258		0.587	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	703	0.00	0	C	NM_172386		66981104	66981104	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	425	11.64	56	SNP	1.000	A
ABCA9	10350	genome.wustl.edu	37	17	67024775	67024775	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:67024775C>A	ENST00000340001.4	-	12	1727	c.1516G>T	c.(1516-1518)Gac>Tac	p.D506Y	ABCA9_ENST00000370732.2_Missense_Mutation_p.D506Y|ABCA9_ENST00000453985.2_Missense_Mutation_p.D506Y	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	506	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCATATATGTCAAACACCACA	0.393																																						dbGAP											0													83.0	79.0	81.0					17																	67024775		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1516G>T	17.37:g.67024775C>A	ENSP00000342216:p.Asp506Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D506Y	ENST00000340001.4	37	c.1516	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855444	0.51376	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94138	-3.36;-3.36	5.03	5.03	0.67393	ABC transporter-like (1);	0.125896	0.34750	N	0.003716	D	0.94716	0.8295	L	0.46885	1.475	0.37956	D	0.932807	D;D	0.89917	1.0;0.986	D;P	0.77557	0.99;0.872	D	0.95556	0.8625	10	0.87932	D	0	.	11.8297	0.52288	0.0:0.9128:0.0:0.0872	.	506;506	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	Y	506;489;506;501	ENSP00000342216:D506Y;ENSP00000359767:D506Y	ENSP00000342216:D506Y	D	-	1	0	ABCA9	64536370	1.000000	0.71417	0.941000	0.38009	0.559000	0.35586	3.470000	0.53100	2.491000	0.84063	0.591000	0.81541	GAC	ABCA9	-	pfscan_ABC_transporter-like	ENSG00000154258		0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	188	0.00	0	C	NM_172386		67024775	67024775	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	missense	100	13.04	15	SNP	0.991	A
ABCB11	8647	genome.wustl.edu	37	2	169826690	169826690	+	Missense_Mutation	SNP	C	C	A	rs11568369		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:169826690C>A	ENST00000263817.6	-	15	1798	c.1674G>T	c.(1672-1674)caG>caT	p.Q558H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	558	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CACCACTCATCTGGCCTCCTC	0.498																																						dbGAP											0													103.0	101.0	101.0					2																	169826690		1998	4195	6193	-	-	-	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.1674G>T	2.37:g.169826690C>A	ENSP00000263817:p.Gln558His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q558H	ENST00000263817.6	37	c.1674	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460243	0.43736	.	.	ENSG00000073734	ENST00000263817	D	0.83992	-1.79	5.3	2.19	0.27852	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.103517	0.64402	N	0.000002	T	0.75708	0.3886	L	0.52011	1.625	0.80722	D	1	B	0.23540	0.087	B	0.31686	0.134	T	0.69569	-0.5110	10	0.66056	D	0.02	.	3.2825	0.06920	0.1195:0.5298:0.1323:0.2184	.	558	O95342	ABCBB_HUMAN	H	558	ENSP00000263817:Q558H	ENSP00000263817:Q558H	Q	-	3	2	ABCB11	169534936	0.931000	0.31567	1.000000	0.80357	0.992000	0.81027	0.115000	0.15540	0.569000	0.29329	0.655000	0.94253	CAG	ABCB11	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000073734		0.498	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	211	0.00	0	C	NM_003742		169826690	169826690	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	missense	158	11.24	20	SNP	1.000	A
ABCB11	8647	genome.wustl.edu	37	2	169847321	169847321	+	Nonsense_Mutation	SNP	C	C	A	rs267598994		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:169847321C>A	ENST00000263817.6	-	9	1022	c.898G>T	c.(898-900)Gag>Tag	p.E300*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	300	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTTCAACCTCTCTTTTCTCA	0.453																																						dbGAP											0													209.0	215.0	213.0					2																	169847321		1913	4126	6039	-	-	-	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.898G>T	2.37:g.169847321C>A	ENSP00000263817:p.Glu300*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E300*	ENST00000263817.6	37	c.898	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.885256	0.98542	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.53	5.53	0.82687	.	0.099625	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.0E-4	19.8195	0.96586	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000263817:E300X	E	-	1	0	ABCB11	169555567	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.750000	0.85110	2.756000	0.94617	0.655000	0.94253	GAG	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000073734		0.453	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	196	0.00	0	C	NM_003742		169847321	169847321	-1	no_errors	ENST00000263817	ensembl	human	known	69_37n	nonsense	139	12.58	20	SNP	1.000	A
ABCB4	5244	genome.wustl.edu	37	7	87037515	87037515	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:87037515G>A	ENST00000265723.4	-	25	3228	c.3117C>T	c.(3115-3117)gtC>gtT	p.V1039V	ABCB4_ENST00000358400.3_Silent_p.V992V|ABCB4_ENST00000359206.3_Silent_p.V1039V|ABCB4_ENST00000453593.1_Silent_p.V992V|ABCB4_ENST00000545634.1_Silent_p.V1039V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1039	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTTGAACACGACTTCATTAA	0.408																																						dbGAP											0													65.0	66.0	66.0					7																	87037515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3117C>T	7.37:g.87037515G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V1039	ENST00000265723.4	37	c.3117	CCDS5606.1	7																																																																																			ABCB4	-	pfscan_ABC_transporter-like	ENSG00000005471		0.408	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	313	0.00	0	G	NM_000443		87037515	87037515	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	silent	195	22.62	57	SNP	0.000	A
ABCB5	340273	genome.wustl.edu	37	7	20782611	20782611	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:20782611G>T	ENST00000404938.2	+	25	3788	c.3136G>T	c.(3136-3138)Gta>Tta	p.V1046L	ABCB5_ENST00000258738.6_Missense_Mutation_p.V601L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1046	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGGAAAGACAGTAGCATTTGT	0.478																																						dbGAP											0													120.0	109.0	113.0					7																	20782611		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3136G>T	7.37:g.20782611G>T	ENSP00000384881:p.Val1046Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V601L	ENST00000404938.2	37	c.1801	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.084357	0.01888	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.94138	-3.36;-3.36	4.96	4.04	0.47022	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.46145	D	0.000307	D	0.83468	0.5261	N	0.12853	0.265	0.38468	D	0.947403	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.002	T	0.77600	-0.2527	10	0.02654	T	1	.	14.0482	0.64716	0.0:0.2454:0.7546:0.0	.	1046;601	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	L	1046;601	ENSP00000384881:V1046L;ENSP00000258738:V601L	ENSP00000258738:V601L	V	+	1	0	ABCB5	20749136	0.912000	0.30974	0.981000	0.43875	0.358000	0.29455	1.530000	0.36007	2.575000	0.86900	0.650000	0.86243	GTA	ABCB5	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000004846		0.478	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	657	0.15	1	G	NM_178559		20782611	20782611	+1	no_errors	ENST00000258738	ensembl	human	known	69_37n	missense	594	14.04	97	SNP	0.766	T
ABCB4	5244	genome.wustl.edu	37	7	87041264	87041264	+	Nonsense_Mutation	SNP	G	G	A	rs121918440		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:87041264G>A	ENST00000265723.4	-	23	2980	c.2869C>T	c.(2869-2871)Cga>Tga	p.R957*	ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R957*|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R957*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	957	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCACCAAATCGAAAACAACCG	0.328																																						dbGAP											0			GRCh37	CM981521	ABCB4	M	rs121918440						66.0	63.0	64.0					7																	87041264		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2869C>T	7.37:g.87041264G>A	ENSP00000265723:p.Arg957*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R957*	ENST00000265723.4	37	c.2869	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.377929	0.98784	.	.	ENSG00000005471	ENST00000359206;ENST00000265723;ENST00000545634	.	.	.	5.48	3.69	0.42338	.	0.065482	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6955	5.8311	0.18581	0.2123:0.0:0.6526:0.1351	.	.	.	.	X	957	.	ENSP00000265723:R957X	R	-	1	2	ABCB4	86879200	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.800000	0.47900	0.698000	0.31739	0.655000	0.94253	CGA	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000005471		0.328	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	135	0.00	0	G	NM_000443		87041264	87041264	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	nonsense	73	17.05	15	SNP	0.999	A
ABCB6	10058	genome.wustl.edu	37	2	220078881	220078881	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220078881C>T	ENST00000265316.3	-	8	1730	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ABCB6_ENST00000439002.2_Missense_Mutation_p.E426K	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	472	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTTCCACTTCGTAACTCTCG	0.488																																						dbGAP											0													145.0	134.0	138.0					2																	220078881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1414G>A	2.37:g.220078881C>T	ENSP00000265316:p.Glu472Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E472K	ENST00000265316.3	37	c.1414	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.077491	0.94000	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.94417	-3.42;-2.94	5.33	5.33	0.75918	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99734	1.1013	10	0.87932	D	0	-11.9847	19.0272	0.92937	0.0:1.0:0.0:0.0	.	426;472	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	K	472;426	ENSP00000265316:E472K;ENSP00000394333:E426K	ENSP00000265316:E472K	E	-	1	0	ABCB6	219787125	1.000000	0.71417	0.959000	0.39883	0.378000	0.30076	7.657000	0.83745	2.502000	0.84385	0.591000	0.81541	GAA	ABCB6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000115657		0.488	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	83	0.00	0	C	NM_005689		220078881	220078881	-1	no_errors	ENST00000265316	ensembl	human	known	69_37n	missense	78	10.34	9	SNP	1.000	T
ABCC1	4363	genome.wustl.edu	37	16	16150143	16150143	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:16150143G>A	ENST00000399410.3	+	12	1843	c.1668G>A	c.(1666-1668)acG>acA	p.T556T	ABCC1_ENST00000351154.5_Silent_p.T556T|ABCC1_ENST00000349029.5_Silent_p.T556T|ABCC1_ENST00000399408.2_Silent_p.T556T|ABCC1_ENST00000345148.5_Silent_p.T556T|ABCC1_ENST00000346370.5_Silent_p.T556T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	556	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGTCTGCACGCCCTTTCTGG	0.498																																						dbGAP											0													51.0	52.0	52.0					16																	16150143		2031	4195	6226	-	-	-	SO:0001819	synonymous_variant	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1668G>A	16.37:g.16150143G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.A455T	ENST00000399410.3	37	c.1363	CCDS42122.1	16																																																																																			ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.498	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	185	0.00	0	G	NM_004996		16150143	16150143	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000572882	ensembl	human	novel	69_37n	missense	115	30.64	53	SNP	0.007	A
ABCC1	4363	genome.wustl.edu	37	16	16235086	16235086	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:16235086T>A	ENST00000399410.3	+	31	4719	c.4544T>A	c.(4543-4545)cTg>cAg	p.L1515Q	ABCC1_ENST00000351154.5_Missense_Mutation_p.L1456Q|ABCC1_ENST00000349029.5_Missense_Mutation_p.L1400Q|ABCC1_ENST00000399408.2_Missense_Mutation_p.L1525Q|ABCC1_ENST00000345148.5_Missense_Mutation_p.L1450Q|ABCC1_ENST00000346370.5_Missense_Mutation_p.L1459Q	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1515	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCGGACCTCCTGCAGCAGAGA	0.582																																						dbGAP											0													126.0	129.0	128.0					16																	16235086		1928	4119	6047	-	-	-	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4544T>A	16.37:g.16235086T>A	ENSP00000382342:p.Leu1515Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L1525Q	ENST00000399410.3	37	c.4574	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328826	0.81690	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.26	5.26	0.73747	ABC transporter-like (1);	0.139887	0.47455	D	0.000228	D	0.84275	0.5436	M	0.81614	2.55	0.58432	D	0.999995	P;D;D;D;D;D	0.89917	0.52;0.991;1.0;1.0;0.999;1.0	P;D;D;D;D;D	0.91635	0.607;0.926;0.986;0.999;0.968;0.986	D	0.86705	0.1932	10	0.87932	D	0	-14.7637	14.3698	0.66830	0.0:0.0:0.0:1.0	.	1400;1450;1459;1456;1515;1525	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	Q	1515;1525;1459;1456;1450;1400;1199	ENSP00000382342:L1515Q;ENSP00000382340:L1525Q;ENSP00000263019:L1459Q;ENSP00000263017:L1456Q;ENSP00000263014:L1450Q;ENSP00000263016:L1400Q	ENSP00000263014:L1450Q	L	+	2	0	ABCC1	16142587	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	8.013000	0.88655	1.978000	0.57642	0.533000	0.62120	CTG	ABCC1	-	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.582	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	125	0.00	0	T	NM_004996		16235086	16235086	+1	no_errors	ENST00000399408	ensembl	human	known	69_37n	missense	97	11.61	13	SNP	1.000	A
ABCC10	89845	genome.wustl.edu	37	6	43403974	43403974	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:43403974G>A	ENST00000372530.4	+	6	2079	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	ABCC10_ENST00000244533.3_Missense_Mutation_p.E594K	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	622	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CAGTCATCTCGAAGTGAAAAA	0.517																																						dbGAP											0													103.0	100.0	101.0					6																	43403974		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.1864G>A	6.37:g.43403974G>A	ENSP00000361608:p.Glu622Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E622K	ENST00000372530.4	37	c.1864	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	6.419	0.445486	0.12164	.	.	ENSG00000124574	ENST00000372515;ENST00000372530;ENST00000244533	D;D;D	0.93366	-3.21;-3.21;-3.21	5.52	0.563	0.17296	ABC transporter-like (1);	1.279570	0.04756	N	0.425521	T	0.71298	0.3323	N	0.25957	0.775	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.0	T	0.63175	-0.6696	10	0.10377	T	0.69	-7.2117	1.2915	0.02061	0.3173:0.148:0.3924:0.1423	.	594;622	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	K	178;622;594	ENSP00000361593:E178K;ENSP00000361608:E622K;ENSP00000244533:E594K	ENSP00000244533:E594K	E	+	1	0	ABCC10	43511952	0.003000	0.15002	0.491000	0.27477	0.864000	0.49448	-0.355000	0.07671	0.281000	0.22233	0.462000	0.41574	GAA	ABCC10	-	pfscan_ABC_transporter-like	ENSG00000124574		0.517	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	109	0.00	0	G	NM_033450		43403974	43403974	+1	no_errors	ENST00000372530	ensembl	human	known	69_37n	missense	82	10.87	10	SNP	0.026	A
ABCC12	94160	genome.wustl.edu	37	16	48139206	48139206	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:48139206G>A	ENST00000311303.3	-	19	2862	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	ABCC12_ENST00000448542.1_Silent_p.V836V|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	839	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V839V(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCACCGCGCCGACCTCACACA	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											105.0	76.0	86.0					16																	48139206		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2517C>T	16.37:g.48139206G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V839	ENST00000311303.3	37	c.2517	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	124	0.00	0	G	NM_033226		48139206	48139206	-1	no_errors	ENST00000311303	ensembl	human	known	69_37n	silent	56	22.22	16	SNP	0.000	A
ABCC2	1244	genome.wustl.edu	37	10	101553386	101553386	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:101553386C>A	ENST00000370449.4	+	4	525	c.412C>A	c.(412-414)Ctc>Atc	p.L138I	ABCC2_ENST00000496621.1_3'UTR|ABCC2_ENST00000370434.1_Missense_Mutation_p.L138I	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	138					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATTCTGGATTCTCTCGATACT	0.458																																						dbGAP											0													190.0	173.0	179.0					10																	101553386		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.412C>A	10.37:g.101553386C>A	ENSP00000359478:p.Leu138Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.L138I	ENST00000370449.4	37	c.412	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205676	0.39003	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.62639	0.01;0.01	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.72479	2.2	0.80722	D	1	P	0.42961	0.795	B	0.38156	0.266	T	0.65397	-0.6178	10	0.51188	T	0.08	-16.3539	12.7059	0.57060	0.0:0.9241:0.0:0.0759	.	138	Q92887	MRP2_HUMAN	I	138	ENSP00000359478:L138I;ENSP00000359463:L138I	ENSP00000359463:L138I	L	+	1	0	ABCC2	101543376	0.998000	0.40836	1.000000	0.80357	0.413000	0.31143	3.404000	0.52623	2.672000	0.90937	0.561000	0.74099	CTC	ABCC2	-	tigrfam_Multidrug-R_assoc	ENSG00000023839		0.458	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	344	0.00	0	C	NM_000392		101553386	101553386	+1	no_errors	ENST00000370449	ensembl	human	known	69_37n	missense	291	10.46	34	SNP	1.000	A
ABCC2	1244	genome.wustl.edu	37	10	101606856	101606856	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:101606856G>A	ENST00000370449.4	+	30	4398	c.4285G>A	c.(4285-4287)Gaa>Aaa	p.E1429K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1429	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTTATCCCACGAAGTGACAGA	0.547																																						dbGAP											0													92.0	85.0	87.0					10																	101606856		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4285G>A	10.37:g.101606856G>A	ENSP00000359478:p.Glu1429Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E1429K	ENST00000370449.4	37	c.4285	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434417	0.43224	.	.	ENSG00000023839	ENST00000370449	D	0.90444	-2.67	4.88	3.98	0.46160	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.105878	0.64402	N	0.000005	D	0.87896	0.6293	N	0.10782	0.045	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	D	0.88498	0.3080	10	0.87932	D	0	-10.8119	9.3035	0.37861	0.0827:0.1862:0.7312:0.0	.	1429	Q92887	MRP2_HUMAN	K	1429	ENSP00000359478:E1429K	ENSP00000359478:E1429K	E	+	1	0	ABCC2	101596846	0.987000	0.35691	0.796000	0.32109	0.046000	0.14306	1.918000	0.40006	1.284000	0.44531	0.650000	0.86243	GAA	ABCC2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.547	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	45	0.00	0	G	NM_000392		101606856	101606856	+1	no_errors	ENST00000370449	ensembl	human	known	69_37n	missense	78	13.04	12	SNP	1.000	A
ABCC3	8714	genome.wustl.edu	37	17	48753261	48753261	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:48753261C>A	ENST00000285238.8	+	22	2957	c.2877C>A	c.(2875-2877)ttC>ttA	p.F959L	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	959					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCAGTGTGTTCTGGGATTATG	0.607																																						dbGAP											0													74.0	66.0	69.0					17																	48753261		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2877C>A	17.37:g.48753261C>A	ENSP00000285238:p.Phe959Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.F959L	ENST00000285238.8	37	c.2877	CCDS32681.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.33|17.33	3.361504|3.361504	0.61403|0.61403	.|.	.|.	ENSG00000108846|ENSG00000108846	ENST00000285238|ENST00000513745	D|.	0.89343|.	-2.5|.	5.88|5.88	4.91|4.91	0.64330|0.64330	ABC transporter, transmembrane domain, type 1 (1);|.	0.273237|.	0.36665|.	N|.	0.002465|.	T|T	0.61751|0.61751	0.2372|0.2372	L|L	0.47016|0.47016	1.485|1.485	0.40683|0.40683	D|D	0.982321|0.982321	P|.	0.38300|.	0.626|.	B|.	0.34722|.	0.188|.	T|T	0.60777|0.60777	-0.7196|-0.7196	10|5	0.87932|.	D|.	0|.	-17.9279|-17.9279	14.7668|14.7668	0.69646|0.69646	0.0:0.9311:0.0:0.0689|0.0:0.9311:0.0:0.0689	.|.	959|.	O15438|.	MRP3_HUMAN|.	L|M	959|108	ENSP00000285238:F959L|.	ENSP00000285238:F959L|.	F|L	+|+	3|1	2|2	ABCC3|ABCC3	46108260|46108260	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.255000|0.255000	0.26057|0.26057	2.579000|2.579000	0.46059|0.46059	1.484000|1.484000	0.48361|0.48361	0.655000|0.655000	0.94253|0.94253	TTC|CTG	ABCC3	-	superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc	ENSG00000108846		0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	124	0.00	0	C	NM_020038		48753261	48753261	+1	no_errors	ENST00000285238	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	1.000	A
ABCC4	10257	genome.wustl.edu	37	13	95861766	95861766	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:95861766G>A	ENST00000376887.4	-	6	821	c.707C>T	c.(706-708)tCg>tTg	p.S236L	ABCC4_ENST00000412704.1_Missense_Mutation_p.S236L|ABCC4_ENST00000536256.1_Missense_Mutation_p.S161L|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.S236L|snoU13_ENST00000459449.1_RNA	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	236	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AGCAAGGCACGATATTCCTAT	0.468																																						dbGAP											0													116.0	96.0	103.0					13																	95861766		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.707C>T	13.37:g.95861766G>A	ENSP00000366084:p.Ser236Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.S236L	ENST00000376887.4	37	c.707	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.231401	0.95207	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90844	-2.18;-2.18;-2.74;-2.18	5.81	5.81	0.92471	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D	0.67145	0.961;0.993;0.995;0.996;0.993	P;P;P;P;P	0.60173	0.532;0.87;0.852;0.87;0.842	D	0.97667	1.0164	10	0.87932	D	0	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	161;236;236;236;236	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	L	236;236;161;236	ENSP00000388657:S236L;ENSP00000366084:S236L;ENSP00000442024:S161L;ENSP00000398562:S236L	ENSP00000366084:S236L	S	-	2	0	ABCC4	94659767	1.000000	0.71417	0.371000	0.25978	0.872000	0.50106	8.986000	0.93492	2.736000	0.93811	0.655000	0.94253	TCG	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000125257		0.468	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	103	0.00	0	G	NM_005845		95861766	95861766	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	53	29.33	22	SNP	0.990	A
ABCC8	6833	genome.wustl.edu	37	11	17483289	17483289	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:17483289G>A	ENST00000389817.3	-	5	731	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ABCC8_ENST00000302539.4_Silent_p.F221F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	221					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCAGATTCACGAAGGGCTGCA	0.582																																						dbGAP											0													143.0	125.0	131.0					11																	17483289		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.663C>T	11.37:g.17483289G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.F221	ENST00000389817.3	37	c.663	CCDS31437.1	11																																																																																			ABCC8	-	prints_Sulphorea_rcpt	ENSG00000006071		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	315	0.32	1	G	NM_000352		17483289	17483289	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	silent	203	29.27	84	SNP	0.928	A
ABCD3	5825	genome.wustl.edu	37	1	94945978	94945978	+	Intron	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94945978T>C	ENST00000370214.4	+	9	708				ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Intron|ABCD3_ENST00000454898.2_Intron	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTATTATTATATCCCAGAAC	0.358																																						dbGAP											0													50.0	51.0	51.0					1																	94945978		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.685-42T>C	1.37:g.94945978T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	SNP	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			ABCD3	-	-	ENSG00000117528		0.358	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	269	0.00	0	T	NM_002858		94945978	94945978	+1	no_errors	ENST00000493416	ensembl	human	known	69_37n	rna	153	11.05	19	SNP	0.000	C
ABCG8	64241	genome.wustl.edu	37	2	44079980	44079980	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:44079980C>T	ENST00000272286.2	+	6	1027	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	313	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCCCTGTCCTCGCTACAGCAA	0.597																																						dbGAP											0													73.0	74.0	74.0					2																	44079980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.937C>T	2.37:g.44079980C>T	ENSP00000272286:p.Arg313Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.R313C	ENST00000272286.2	37	c.937	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909295	0.33721	.	.	ENSG00000143921	ENST00000272286	T	0.42131	0.98	5.66	1.37	0.22104	ABC transporter-like (1);	0.050591	0.85682	D	0.000000	T	0.21841	0.0526	N	0.20685	0.6	0.30039	N	0.812734	B;B	0.18968	0.032;0.019	B;B	0.10450	0.005;0.002	T	0.07385	-1.0775	10	0.46703	T	0.11	.	3.14	0.06452	0.228:0.5158:0.0945:0.1618	.	313;313	Q9H221-2;Q9H221	.;ABCG8_HUMAN	C	313	ENSP00000272286:R313C	ENSP00000272286:R313C	R	+	1	0	ABCG8	43933484	0.960000	0.32886	0.764000	0.31436	0.973000	0.67179	2.466000	0.45084	0.326000	0.23384	-0.137000	0.14449	CGC	ABCG8	-	pfscan_ABC_transporter-like	ENSG00000143921		0.597	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	104	0.00	0	C	NM_022437		44079980	44079980	+1	no_errors	ENST00000272286	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	0.009	T
ABHD3	171586	genome.wustl.edu	37	18	19231713	19231713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:19231713C>A	ENST00000289119.2	-	9	1208	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	ABHD3_ENST00000580981.1_Nonsense_Mutation_p.E304*|ABHD3_ENST00000578270.1_Nonsense_Mutation_p.E162*	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	357						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTAGCAGTTTCTATTGGAATA	0.368																																						dbGAP											0													58.0	55.0	56.0					18																	19231713		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.1069G>T	18.37:g.19231713C>A	ENSP00000289119:p.Glu357*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIV0|B7Z5C2|O43411	Nonsense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.E357*	ENST00000289119.2	37	c.1069	CCDS32802.1	18	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689940	0.88735	.	.	ENSG00000158201	ENST00000289119	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-14.377	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	X	357	.	ENSP00000289119:E357X	E	-	1	0	ABHD3	17485711	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.515000	0.84797	0.585000	0.79938	GAA	ABHD3	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000158201		0.368	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD3	HGNC	protein_coding	OTTHUMT00000444757.1	76	0.00	0	C			19231713	19231713	-1	no_errors	ENST00000289119	ensembl	human	known	69_37n	nonsense	64	14.67	11	SNP	1.000	A
ABI1	10006	genome.wustl.edu	37	10	27048089	27048089	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27048089G>A	ENST00000376142.2	-	9	1051	c.980C>T	c.(979-981)tCg>tTg	p.S327L	ABI1_ENST00000536334.1_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S344L|ABI1_ENST00000376140.3_Missense_Mutation_p.S300L|ABI1_ENST00000359188.4_Missense_Mutation_p.S299L|ABI1_ENST00000376166.1_Missense_Mutation_p.S294L|ABI1_ENST00000376160.1_Missense_Mutation_p.S294L|ABI1_ENST00000376138.3_Missense_Mutation_p.S300L|ABI1_ENST00000376170.4_Missense_Mutation_p.S299L|ABI1_ENST00000376134.3_Missense_Mutation_p.S301L|ABI1_ENST00000376139.2_Missense_Mutation_p.S295L|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000355394.4_Missense_Mutation_p.S328L	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	327	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAAGATGTCGAAGAAGTAGT	0.473																																						dbGAP											0													163.0	148.0	153.0					10																	27048089		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.980C>T	10.37:g.27048089G>A	ENSP00000365312:p.Ser327Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.S328L	ENST00000376142.2	37	c.983	CCDS7150.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387139	0.82902	.	.	ENSG00000136754	ENST00000376138;ENST00000376170;ENST00000376166;ENST00000376160;ENST00000376142;ENST00000359188;ENST00000376139;ENST00000355394;ENST00000346832;ENST00000376134;ENST00000376140	T;T;T;T;T;T;T;T;T;T;T	0.43688	1.14;1.11;1.11;1.04;1.04;1.03;1.06;1.15;1.2;0.94;1.04	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.994;0.994;0.984;0.999;0.998;0.962;0.999;0.999;1.0	D;D;B;D;D;B;D;D;D	0.79108	0.921;0.921;0.31;0.975;0.992;0.324;0.99;0.99;0.99	T	0.54016	-0.8356	10	0.49607	T	0.09	-4.705	19.774	0.96385	0.0:0.0:1.0:0.0	.	166;294;324;299;344;300;295;300;327	B4DKX2;Q5T2R9;Q59G41;Q8IZP0-6;B3KX62;Q8IZP0-3;Q8IZP0-5;Q8IZP0-9;Q8IZP0	.;.;.;.;.;.;.;.;ABI1_HUMAN	L	300;299;294;294;327;299;295;328;344;301;300	ENSP00000365308:S300L;ENSP00000365340:S299L;ENSP00000365336:S294L;ENSP00000365330:S294L;ENSP00000365312:S327L;ENSP00000352114:S299L;ENSP00000365309:S295L;ENSP00000347555:S328L;ENSP00000279599:S344L;ENSP00000365304:S301L;ENSP00000365310:S300L	ENSP00000279599:S344L	S	-	2	0	ABI1	27088095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.845000	0.99498	2.679000	0.91253	0.591000	0.81541	TCG	ABI1	-	NULL	ENSG00000136754		0.473	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	290	0.34	1	G	NM_005470		27048089	27048089	-1	no_errors	ENST00000355394	ensembl	human	known	69_37n	missense	176	11.56	23	SNP	1.000	A
ABI2	10152	genome.wustl.edu	37	2	204245048	204245048	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:204245048C>T	ENST00000422511.2	+	3	434	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ABI2_ENST00000261016.6_Missense_Mutation_p.R90C|ABI2_ENST00000424558.1_Missense_Mutation_p.R135C|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.R135C|ABI2_ENST00000295851.5_Missense_Mutation_p.R135C|ABI2_ENST00000261017.5_Missense_Mutation_p.R135C|ABI2_ENST00000261018.7_5'Flank			Q9NYB9	ABI2_HUMAN	abl-interactor 2	135					actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.R135C(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						ACGACCAGTTCGTTATATTAG	0.328																																						dbGAP											1	Substitution - Missense(1)	skin(1)											100.0	106.0	104.0					2																	204245048		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.403C>T	2.37:g.204245048C>T	ENSP00000396249:p.Arg135Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.R135C	ENST00000422511.2	37	c.403		2	.	.	.	.	.	.	.	.	.	.	C	32	5.158498	0.94686	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511	D;D;D;D;T;D;D	0.92595	-3.07;-3.04;-3.04;-3.04;0.91;-3.07;-3.07	5.54	5.54	0.83059	Abl-interactor, homeo-domain homologous domain (1);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	M	0.70275	2.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.977;0.997;0.987;0.999	D	0.96035	0.9020	10	0.87932	D	0	-11.6995	19.4859	0.95028	0.0:1.0:0.0:0.0	.	79;135;90;135;135	B7Z836;Q9NYB9-4;Q9NYB9-3;Q9NYB9;Q9NYB9-2	.;.;.;ABI2_HUMAN;.	C	135;135;135;135;90;135;135	ENSP00000295851:R135C;ENSP00000261017:R135C;ENSP00000408898:R135C;ENSP00000391433:R135C;ENSP00000261016:R90C;ENSP00000414703:R135C;ENSP00000396249:R135C	ENSP00000261016:R90C	R	+	1	0	ABI2	203953293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.617000	0.88574	0.591000	0.81541	CGT	ABI2	-	pfam_Abl-interactor_HHR_dom	ENSG00000138443		0.328	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	231	0.00	0	C	NM_005759		204245048	204245048	+1	no_errors	ENST00000295851	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	1.000	T
ABLIM3	22885	genome.wustl.edu	37	5	148620248	148620248	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:148620248G>T	ENST00000506113.1	+	13	1696	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S405I|ABLIM3_ENST00000517451.1_5'Flank			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	405					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCCGAGAGTGGCCGGAGC	0.557																																						dbGAP											0													98.0	96.0	97.0					5																	148620248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1214G>T	5.37:g.148620248G>T	ENSP00000425394:p.Ser405Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.S405I	ENST00000506113.1	37	c.1214	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.289943	0.95546	.	.	ENSG00000173210	ENST00000309868;ENST00000506113	T;T	0.48522	0.81;0.81	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.64952	-0.6286	10	0.87932	D	0	.	19.8551	0.96755	0.0:0.0:1.0:0.0	.	405	O94929	ABLM3_HUMAN	I	405	ENSP00000310309:S405I;ENSP00000425394:S405I	ENSP00000310309:S405I	S	+	2	0	ABLIM3	148600441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.785000	0.99042	2.861000	0.98227	0.655000	0.94253	AGT	ABLIM3	-	NULL	ENSG00000173210		0.557	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	87	0.00	0	G	NM_014945		148620248	148620248	+1	no_errors	ENST00000309868	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	T
ABO	28	genome.wustl.edu	37	9	136131209	136131209	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:136131209C>A	ENST00000453660.2	-	0	919				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCAGGTGGCTCTCGTCGTGCC	0.667																																						dbGAP											0													63.0	71.0	69.0					9																	136131209		2121	4220	6341	-	-	-			0			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131209C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	-	NULL	ENST00000453660.2	37	NULL		9																																																																																			ABO	-	-	ENSG00000175164		0.667	ABO-001	KNOWN	basic	processed_transcript	ABO	HGNC	processed_transcript	OTTHUMT00000054907.4	18	0.00	0	C	NM_020469		136131209	136131209	-1	no_errors	ENST00000453660	ensembl	human	known	69_37n	rna	11	35.29	6	SNP	1.000	A
ABTB2	25841	genome.wustl.edu	37	11	34378311	34378311	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:34378311C>T	ENST00000435224.2	-	1	1244	c.820G>A	c.(820-822)Gac>Aac	p.D274N	ABTB2_ENST00000298992.2_Missense_Mutation_p.D88N	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	274					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				AGCTCGGCGTCGTTGTTGATG	0.662																																						dbGAP											0													26.0	27.0	27.0					11																	34378311		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.820G>A	11.37:g.34378311C>T	ENSP00000410157:p.Asp274Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.D274N	ENST00000435224.2	37	c.820	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597630	0.87055	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60920	0.15;0.16	4.96	4.96	0.65561	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.73321	0.3572	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.71659	-0.4526	10	0.32370	T	0.25	-25.4	17.2343	0.86994	0.0:1.0:0.0:0.0	.	88	Q8N961	ABTB2_HUMAN	N	274;88	ENSP00000410157:D274N;ENSP00000298992:D88N	ENSP00000298992:D88N	D	-	1	0	ABTB2	34334887	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.298000	0.78815	2.296000	0.77279	0.455000	0.32223	GAC	ABTB2	-	superfamily_Histone-fold	ENSG00000166016		0.662	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	24	0.00	0	C	NM_145804		34378311	34378311	-1	no_errors	ENST00000435224	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	T
ACACA	31	genome.wustl.edu	37	17	35518824	35518824	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:35518824G>A	ENST00000394406.2	-	42	5299	c.5109C>T	c.(5107-5109)tcC>tcT	p.S1703S	ACACA_ENST00000335166.5_Silent_p.S1625S|ACACA_ENST00000360679.3_Silent_p.S1645S|ACACA_ENST00000353139.5_Silent_p.S1740S|ACACA_ENST00000361253.5_5'Flank	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1703	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAGCAAGTTCGGAAGCTCTGA	0.448																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													135.0	117.0	123.0					17																	35518824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5109C>T	17.37:g.35518824G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S1740	ENST00000394406.2	37	c.5220	CCDS11317.1	17																																																																																			ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000132142		0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	827	0.12	1	G	NM_198836		35518824	35518824	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	silent	401	30.99	181	SNP	1.000	A
ACACA	31	genome.wustl.edu	37	17	35616432	35616432	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:35616432T>G	ENST00000394406.2	-	12	1429	c.1239A>C	c.(1237-1239)aaA>aaC	p.K413N	ACACA_ENST00000335166.5_Missense_Mutation_p.K335N|ACACA_ENST00000360679.3_Missense_Mutation_p.K355N|ACACA_ENST00000353139.5_Missense_Mutation_p.K450N	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	413	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACCCACCATTTTGGCAAGTT	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													111.0	101.0	105.0					17																	35616432		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1239A>C	17.37:g.35616432T>G	ENSP00000377928:p.Lys413Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.K450N	ENST00000394406.2	37	c.1350	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006438	0.74932	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62	5.39	1.78	0.24846	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.044255	0.85682	D	0.000000	D	0.98086	0.9369	M	0.87547	2.89	0.80722	D	1	P;D;P	0.58268	0.862;0.982;0.946	P;P;P	0.58660	0.777;0.843;0.757	D	0.97363	0.9971	10	0.87932	D	0	-8.2461	8.8404	0.35137	0.0:0.3462:0.0:0.6538	.	450;413;355	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	N	450;355;413;437;335	ENSP00000344789:K450N;ENSP00000353898:K355N;ENSP00000377928:K413N;ENSP00000335323:K335N	ENSP00000335323:K335N	K	-	3	2	ACACA	32690545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.064000	0.30579	0.353000	0.24079	0.460000	0.39030	AAA	ACACA	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom	ENSG00000132142		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	209	0.00	0	T	NM_198836		35616432	35616432	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	100	15.13	18	SNP	1.000	G
ACACA	31	genome.wustl.edu	37	17	35641761	35641761	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:35641761C>T	ENST00000394406.2	-	4	528	c.338G>A	c.(337-339)gGg>gAg	p.G113E	ACACA_ENST00000335166.5_Missense_Mutation_p.G35E|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.G55E|ACACA_ENST00000353139.5_Missense_Mutation_p.G150E	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	113					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTATTTCCCCCAAAGCGAGT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													99.0	104.0	102.0					17																	35641761		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.338G>A	17.37:g.35641761C>T	ENSP00000377928:p.Gly113Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.G150E	ENST00000394406.2	37	c.449	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913945	0.92178	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066;ENST00000394403;ENST00000451642;ENST00000413318	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.63	5.63	0.86233	PreATP-grasp-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80276	0.4593	L	0.29908	0.895	0.80722	D	1	D;P;P	0.61697	0.99;0.864;0.791	D;B;P	0.66847	0.947;0.391;0.596	T	0.80754	-0.1241	10	0.52906	T	0.07	-15.049	19.699	0.96045	0.0:1.0:0.0:0.0	.	150;113;55	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	E	150;55;113;137;35;35;35;113;35	ENSP00000344789:G150E;ENSP00000353898:G55E;ENSP00000377928:G113E;ENSP00000335323:G35E	ENSP00000335323:G35E	G	-	2	0	ACACA	32715874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.655000	0.90218	0.650000	0.86243	GGG	ACACA	-	superfamily_PreATP-grasp_fold	ENSG00000132142		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	228	0.00	0	C	NM_198836		35641761	35641761	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	169	15.92	32	SNP	1.000	T
ACACB	32	genome.wustl.edu	37	12	109577276	109577276	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:109577276C>A	ENST00000338432.7	+	2	185	c.66C>A	c.(64-66)atC>atA	p.I22I	ACACB_ENST00000377854.5_Silent_p.I22I|ACACB_ENST00000377848.3_Silent_p.I22I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	22					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.I22I(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGTTAAAAATCTGGGGGAAAA	0.453																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											94.0	93.0	93.0					12																	109577276		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.66C>A	12.37:g.109577276C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I22	ENST00000338432.7	37	c.66	CCDS31898.1	12																																																																																			ACACB	-	NULL	ENSG00000076555		0.453	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	209	0.00	0	C	NM_001093		109577276	109577276	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	silent	194	14.10	32	SNP	0.371	A
ACACB	32	genome.wustl.edu	37	12	109700240	109700240	+	Silent	SNP	C	C	T	rs201825944		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:109700240C>T	ENST00000338432.7	+	49	6872	c.6753C>T	c.(6751-6753)atC>atT	p.I2251I	ACACB_ENST00000377854.5_Silent_p.I2181I|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Silent_p.I2251I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2251	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGAGAAGGATCGATCCAGCTT	0.522																																						dbGAP											0													74.0	69.0	71.0					12																	109700240		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6753C>T	12.37:g.109700240C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I2251	ENST00000338432.7	37	c.6753	CCDS31898.1	12																																																																																			ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000076555		0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	217	0.00	0	C	NM_001093		109700240	109700240	+1	no_errors	ENST00000338432	ensembl	human	known	69_37n	silent	124	11.27	16	SNP	0.015	T
ACAD10	80724	genome.wustl.edu	37	12	112143641	112143641	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:112143641C>T	ENST00000313698.4	+	4	591	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.R146W|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.R146W	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	146						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AACTCAAATTCGGGCAAAAGG	0.463																																						dbGAP											0													146.0	133.0	137.0					12																	112143641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.436C>T	12.37:g.112143641C>T	ENSP00000325137:p.Arg146Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.R146W	ENST00000313698.4	37	c.436	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497663	0.85069	.	.	ENSG00000111271	ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;T;T	0.06768	3.26;3.26;3.26	5.98	5.06	0.68205	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.53938	D	0.000050	T	0.36110	0.0955	M	0.88842	2.985	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.989;1.0;0.999;0.999;0.999	T	0.44360	-0.9333	10	0.87932	D	0	.	15.9374	0.79723	0.1363:0.8637:0.0:0.0	.	146;146;146;146;146	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	W	146	ENSP00000446959:R146W;ENSP00000389813:R146W;ENSP00000325137:R146W	ENSP00000325137:R146W	R	+	1	2	ACAD10	110628024	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	2.225000	0.42954	1.472000	0.48140	0.655000	0.94253	CGG	ACAD10	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	ENSG00000111271		0.463	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	354	0.00	0	C	NM_025247		112143641	112143641	+1	no_errors	ENST00000455480	ensembl	human	known	69_37n	missense	409	12.39	58	SNP	1.000	T
ACAD11	84129	genome.wustl.edu	37	3	132358390	132358390	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:132358390C>T	ENST00000264990.6	-	5	1619	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Silent_p.E216E|ACAD11_ENST00000481970.2_Silent_p.E216E	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	216					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GAATCAAATTCTCTTCATTGT	0.403																																						dbGAP											0													101.0	97.0	98.0					3																	132358390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.648G>A	3.37:g.132358390C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.E216	ENST00000264990.6	37	c.648	CCDS3074.1	3																																																																																			ACAD11	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000240303		0.403	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	180	0.00	0	C	NM_032169		132358390	132358390	-1	no_errors	ENST00000264990	ensembl	human	known	69_37n	silent	129	14.29	22	SNP	0.026	T
ACADL	33	genome.wustl.edu	37	2	211085402	211085402	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:211085402A>G	ENST00000233710.3	-	2	429	c.202T>C	c.(202-204)Ttc>Ctc	p.F68L	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	68					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCTTCTTGGAAAAACTTCCTT	0.368																																						dbGAP											0													113.0	116.0	115.0					2																	211085402		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.202T>C	2.37:g.211085402A>G	ENSP00000233710:p.Phe68Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T3|Q8IUN8	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.F68L	ENST00000233710.3	37	c.202	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298975	0.23650	.	.	ENSG00000115361	ENST00000233710	D	0.99591	-6.24	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.049538	0.85682	D	0.000000	D	0.98251	0.9421	L	0.35593	1.075	0.58432	D	0.999997	P	0.46020	0.871	P	0.45794	0.493	D	0.99974	1.2135	10	0.02654	T	1	.	15.956	0.79889	1.0:0.0:0.0:0.0	.	68	P28330	ACADL_HUMAN	L	68	ENSP00000233710:F68L	ENSP00000233710:F68L	F	-	1	0	ACADL	210793647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.078000	0.89507	2.167000	0.68274	0.533000	0.62120	TTC	ACADL	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000115361		0.368	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2	227	0.44	1	A	NM_001608		211085402	211085402	-1	no_errors	ENST00000233710	ensembl	human	known	69_37n	missense	142	14.97	25	SNP	1.000	G
ACAN	176	genome.wustl.edu	37	15	89401540	89401540	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:89401540C>A	ENST00000561243.1	+	11	5724	c.5724C>A	c.(5722-5724)tcC>tcA	p.S1908S	ACAN_ENST00000559004.1_Silent_p.S1908S|ACAN_ENST00000439576.2_Silent_p.S1908S|ACAN_ENST00000352105.7_Silent_p.S1908S			P16112	PGCA_HUMAN	aggrecan	1903	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGAGAATCCTCCAGAGCTG	0.517																																						dbGAP											0													72.0	77.0	75.0					15																	89401540		2010	4182	6192	-	-	-	SO:0001819	synonymous_variant	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5724C>A	15.37:g.89401540C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S1908	ENST00000561243.1	37	c.5724	CCDS53970.1	15																																																																																			ACAN	-	NULL	ENSG00000157766		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	92	0.00	0	C	NM_001135		89401540	89401540	+1	no_errors	ENST00000439576	ensembl	human	known	69_37n	silent	28	40.43	19	SNP	0.971	A
ACBD6	84320	genome.wustl.edu	37	1	180399376	180399376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:180399376C>A	ENST00000367595.3	-	4	1093	c.406G>T	c.(406-408)Gaa>Taa	p.E136*		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	136						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GTATTTGCTTCTTTTCCTTTC	0.303																																						dbGAP											0													138.0	134.0	135.0					1																	180399376		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.406G>T	1.37:g.180399376C>A	ENSP00000356567:p.Glu136*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E136*	ENST00000367595.3	37	c.406	CCDS1339.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.731567	0.99596	.	.	ENSG00000135847	ENST00000367595	.	.	.	5.22	5.22	0.72569	.	0.098707	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-16.5043	18.3574	0.90362	0.0:1.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000356567:E136X	E	-	1	0	ACBD6	178665999	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.427000	0.66483	2.431000	0.82371	0.655000	0.94253	GAA	ACBD6	-	NULL	ENSG00000135847		0.303	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD6	HGNC	protein_coding	OTTHUMT00000084998.1	623	0.00	0	C	NM_032360		180399376	180399376	-1	no_errors	ENST00000367595	ensembl	human	known	69_37n	nonsense	468	13.33	72	SNP	1.000	A
ACCSL	390110	genome.wustl.edu	37	11	44075057	44075057	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:44075057G>A	ENST00000378832.1	+	8	1105		c.e8+1			NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTGCCAAGAGGTATGAGTTCT	0.458																																						dbGAP											0													85.0	78.0	80.0					11																	44075057		1880	4100	5980	-	-	-	SO:0001630	splice_region_variant	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1049+1G>A	11.37:g.44075057G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e8+1	ENST00000378832.1	37	c.1049+1	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167790	0.38315	.	.	ENSG00000205126	ENST00000378832	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9921	0.71396	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCSL	44031633	1.000000	0.71417	0.951000	0.38953	0.293000	0.27360	7.718000	0.84743	2.469000	0.83416	0.655000	0.94253	.	ACCSL	-	-	ENSG00000205126		0.458	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	181	0.00	0	G	NM_001031854	Intron	44075057	44075057	+1	no_errors	ENST00000378832	ensembl	human	known	69_37n	splice_site	135	12.34	19	SNP	1.000	A
ACO2	50	genome.wustl.edu	37	22	41924524	41924524	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:41924524G>T	ENST00000216254.4	+	18	2272	c.2250G>T	c.(2248-2250)gaG>gaT	p.E750D	POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000396512.3_Missense_Mutation_p.E775D|POLR3H_ENST00000355209.4_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	750					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGACCCAGGAGACCATCCTCC	0.592																																						dbGAP											0													179.0	125.0	143.0					22																	41924524		2203	4300	6503	-	-	-	SO:0001583	missense	0			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.2250G>T	22.37:g.41924524G>T	ENSP00000216254:p.Glu750Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like	p.E750D	ENST00000216254.4	37	c.2250	CCDS14017.1	22	.	.	.	.	.	.	.	.	.	.	g	11.30	1.598339	0.28445	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.44083	0.93;0.93	5.26	1.58	0.23477	Aconitase/3-isopropylmalate dehydratase, swivel (2);	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.13299	0.325	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05084	-1.0907	10	0.22109	T	0.4	.	11.083	0.48070	0.2986:0.0:0.7014:0.0	.	775;750	A2A274;Q99798	.;ACON_HUMAN	D	471;731;750;775	ENSP00000216254:E750D;ENSP00000379769:E775D	ENSP00000216254:E750D	E	+	3	2	ACO2	40254470	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.135000	0.31454	0.584000	0.29591	0.556000	0.70494	GAG	ACO2	-	superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase_mito-like	ENSG00000100412		0.592	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO2	HGNC	protein_coding	OTTHUMT00000259151.1	171	0.00	0	G	NM_001098		41924524	41924524	+1	no_errors	ENST00000216254	ensembl	human	known	69_37n	missense	84	26.32	30	SNP	1.000	T
ACOX3	8310	genome.wustl.edu	37	4	8368698	8368698	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:8368698G>A	ENST00000356406.5	-	18	2170	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L|ACOX3_ENST00000515797.1_5'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	698					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTAGAGCTTCGATTTCAGACT	0.517																																						dbGAP											0													127.0	118.0	121.0					4																	8368698		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.2093C>T	4.37:g.8368698G>A	ENSP00000348775:p.Ser698Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.S698L	ENST00000356406.5	37	c.2093	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598931	0.66332	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	D;D	0.93247	-3.19;-3.19	5.16	5.16	0.70880	.	0.535944	0.17481	N	0.172735	D	0.92984	0.7767	M	0.76574	2.34	0.24015	N	0.996166	D	0.61697	0.99	B	0.42188	0.379	D	0.88987	0.3412	10	0.87932	D	0	1.4088	16.1529	0.81634	0.0:0.0:1.0:0.0	.	698	O15254	ACOX3_HUMAN	L	698	ENSP00000348775:S698L;ENSP00000421625:S698L	ENSP00000348775:S698L	S	-	2	0	ACOX3	8419598	0.948000	0.32251	0.037000	0.18230	0.026000	0.11368	7.092000	0.76930	2.411000	0.81874	0.655000	0.94253	TCG	ACOX3	-	NULL	ENSG00000087008		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	90	0.00	0	G			8368698	8368698	-1	no_errors	ENST00000356406	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.203	A
ACOXL	55289	genome.wustl.edu	37	2	111721256	111721256	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:111721256C>T	ENST00000389811.4	+	13	1339	c.1115C>T	c.(1114-1116)gCc>gTc	p.A372V	ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	372					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GATGTGTTTGCCACTTTTGAA	0.388																																						dbGAP											0													236.0	214.0	221.0					2																	111721256		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1115C>T	2.37:g.111721256C>T	ENSP00000374461:p.Ala372Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase	p.A372V	ENST00000389811.4	37	c.1115		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	6.850|6.850	0.526177|0.526177	0.13066|0.13066	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811|ENST00000433706	D|.	0.96232|.	-3.95|.	5.34|5.34	-1.42|-1.42	0.08913|0.08913	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);|.	0.173407|.	0.35838|.	N|.	0.002950|.	T|T	0.54983|0.54983	0.1892|0.1892	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.51772|0.51772	-0.8663|-0.8663	9|4	0.16420|.	T|.	0.52|.	.|.	9.5985|9.5985	0.39589|0.39589	0.0:0.4005:0.0:0.5995|0.0:0.4005:0.0:0.5995	.|.	372|.	Q9NUZ1|.	ACOXL_HUMAN|.	V|S	372|108	ENSP00000374461:A372V|.	ENSP00000374461:A372V|.	A|P	+|+	2|1	0|0	ACOXL|ACOXL	111437727|111437727	0.095000|0.095000	0.21747|0.21747	0.879000|0.879000	0.34478|0.34478	0.669000|0.669000	0.39330|0.39330	0.043000|0.043000	0.13971|0.13971	0.034000|0.034000	0.15491|0.15491	-0.459000|-0.459000	0.05422|0.05422	GCC|CCA	ACOXL	-	pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C	ENSG00000153093		0.388	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	ACOXL	HGNC	protein_coding	OTTHUMT00000254024.2	626	0.16	1	C	NM_018308		111721256	111721256	+1	no_errors	ENST00000389811	ensembl	human	novel	69_37n	missense	415	21.47	114	SNP	0.613	T
ACPP	55	genome.wustl.edu	37	3	132068830	132068830	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:132068830T>G	ENST00000336375.5	+	8	938	c.848T>G	c.(847-849)cTc>cGc	p.L283R	ACPP_ENST00000475741.1_Missense_Mutation_p.L250R|ACPP_ENST00000351273.7_Missense_Mutation_p.L283R	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	283					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TACAAAAAACTCATCATGTAT	0.353																																						dbGAP											0													139.0	124.0	130.0					3																	132068830		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.848T>G	3.37:g.132068830T>G	ENSP00000337471:p.Leu283Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.L283R	ENST00000336375.5	37	c.848	CCDS3073.1	3	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131504	0.56828	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.34859	1.34;1.34;1.34	5.82	5.82	0.92795	.	0.660669	0.14812	N	0.297005	T	0.61451	0.2348	M	0.86028	2.79	0.09310	N	0.999999	D;D;D	0.63046	0.987;0.992;0.96	P;P;P	0.61397	0.888;0.793;0.882	T	0.59799	-0.7386	10	0.87932	D	0	.	12.5904	0.56439	0.0:0.0:0.0:1.0	.	283;283;250	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	R	283;250;283	ENSP00000337471:L283R;ENSP00000417744:L250R;ENSP00000323036:L283R	ENSP00000337471:L283R	L	+	2	0	ACPP	133551520	0.253000	0.23982	0.004000	0.12327	0.014000	0.08584	4.161000	0.58170	2.227000	0.72691	0.455000	0.32223	CTC	ACPP	-	pfam_His_Pase_superF_clade-2	ENSG00000014257		0.353	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356699.2	412	0.00	0	T	NM_001099		132068830	132068830	+1	no_errors	ENST00000351273	ensembl	human	known	69_37n	missense	300	10.98	37	SNP	0.011	G
ACRBP	84519	genome.wustl.edu	37	12	6753627	6753627	+	Missense_Mutation	SNP	G	G	A	rs367723803		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6753627G>A	ENST00000229243.2	-	5	713	c.620C>T	c.(619-621)cCg>cTg	p.P207L	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000536350.1_Missense_Mutation_p.P207L|ACRBP_ENST00000414226.2_Missense_Mutation_p.P174L	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TTCTTGTGTCGGCTCCTGCCT	0.562																																						dbGAP											0													179.0	146.0	157.0					12																	6753627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.620C>T	12.37:g.6753627G>A	ENSP00000229243:p.Pro207Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Proacrosin-bd	p.P207L	ENST00000229243.2	37	c.620	CCDS8554.1	12	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.353522	0.01256	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.43294	1.02;0.95	3.22	-4.23	0.03789	.	1.014440	0.07906	N	0.973474	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15492	-1.0435	10	0.25751	T	0.34	1.0822	0.9075	0.01288	0.3099:0.1086:0.328:0.2536	.	174;207	E7EP66;Q8NEB7	.;ACRBP_HUMAN	L	207;174;207	ENSP00000229243:P207L;ENSP00000402725:P174L	ENSP00000229243:P207L	P	-	2	0	ACRBP	6623888	0.034000	0.19679	0.000000	0.03702	0.006000	0.05464	0.430000	0.21428	-0.892000	0.03935	-1.368000	0.01194	CCG	ACRBP	-	pfam_Proacrosin-bd	ENSG00000111644		0.562	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	431	0.00	0	G	NM_032489		6753627	6753627	-1	no_errors	ENST00000229243	ensembl	human	known	69_37n	missense	326	15.64	61	SNP	0.000	A
ACRC	93953	genome.wustl.edu	37	X	70800700	70800700	+	Missense_Mutation	SNP	G	G	A	rs373420187		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70800700G>A	ENST00000373695.1	+	1	566	c.29G>A	c.(28-30)cGc>cAc	p.R10H	ACRC_ENST00000373696.3_Missense_Mutation_p.R10H			Q96QF7	ACRC_HUMAN	acidic repeat containing	10						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GAGCTGCCCCGCTTGCAAGAG	0.473																																						dbGAP											0													156.0	144.0	148.0					X																	70800700		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.29G>A	X.37:g.70800700G>A	ENSP00000362799:p.Arg10His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.R10H	ENST00000373695.1	37	c.29	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942216	0.18281	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.38560	1.13;1.13	1.59	-2.72	0.05968	.	.	.	.	.	T	0.15565	0.0375	N	0.14661	0.345	0.09310	N	1	D	0.60160	0.987	B	0.28784	0.094	T	0.19910	-1.0291	9	0.87932	D	0	.	5.5919	0.17305	0.4204:0.0:0.5796:0.0	.	10	Q96QF7	ACRC_HUMAN	H	10	ENSP00000362800:R10H;ENSP00000362799:R10H	ENSP00000362799:R10H	R	+	2	0	ACRC	70717425	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.457000	0.02374	-0.862000	0.04089	0.287000	0.19450	CGC	ACRC	-	NULL	ENSG00000147174		0.473	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	519	0.00	0	G			70800700	70800700	+1	no_errors	ENST00000373695	ensembl	human	known	69_37n	missense	290	17.38	61	SNP	0.000	A
ACRC	93953	genome.wustl.edu	37	X	70823863	70823863	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70823863G>A	ENST00000373695.1	+	7	1273	c.736G>A	c.(736-738)Gac>Aac	p.D246N	ACRC_ENST00000373696.3_Missense_Mutation_p.D246N			Q96QF7	ACRC_HUMAN	acidic repeat containing	246	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAGCAG	0.557																																						dbGAP											0													122.0	109.0	113.0					X																	70823863		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.736G>A	X.37:g.70823863G>A	ENSP00000362799:p.Asp246Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.D246N	ENST00000373695.1	37	c.736	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400919	0.25291	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.35973	1.28;1.28	0.131	0.131	0.14755	.	.	.	.	.	T	0.28167	0.0695	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	P	0.50570	0.644	T	0.14671	-1.0464	9	0.66056	D	0.02	.	5.9545	0.19265	6.0E-4:0.0:0.9994:0.0	.	246	Q96QF7	ACRC_HUMAN	N	246	ENSP00000362800:D246N;ENSP00000362799:D246N	ENSP00000362799:D246N	D	+	1	0	ACRC	70740588	0.001000	0.12720	0.017000	0.16124	0.017000	0.09413	0.660000	0.25009	0.157000	0.19338	0.158000	0.16466	GAC	ACRC	-	NULL	ENSG00000147174		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	205	0.00	0	G			70823863	70823863	+1	no_errors	ENST00000373695	ensembl	human	known	69_37n	missense	152	29.49	64	SNP	0.048	A
ACRV1	56	genome.wustl.edu	37	11	125542516	125542516	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:125542516C>T	ENST00000533904.1	-	4	1112	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	CHEK1_ENST00000428830.2_Intron|ACRV1_ENST00000453509.1_Missense_Mutation_p.R168Q|ACRV1_ENST00000345274.1_Missense_Mutation_p.R147Q|ACRV1_ENST00000315608.3_Missense_Mutation_p.R238Q|ACRV1_ENST00000527795.1_Missense_Mutation_p.R187Q|ACRV1_ENST00000445562.1_Missense_Mutation_p.R162Q|ACRV1_ENST00000425431.1_Missense_Mutation_p.R113Q|ACRV1_ENST00000348856.3_Missense_Mutation_p.R157Q|ACRV1_ENST00000530048.1_Missense_Mutation_p.R202Q|ACRV1_ENST00000353070.1_Missense_Mutation_p.R73Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	257					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.R257Q(1)		kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGATTGATTTCGACAGCATAT	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											176.0	157.0	163.0					11																	125542516		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.770G>A	11.37:g.125542516C>T	ENSP00000432816:p.Arg257Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FF4	Missense_Mutation	SNP	NULL	p.R257Q	ENST00000533904.1	37	c.770	CCDS8460.1	11	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505327	0.64410	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000257382;ENST00000426183;ENST00000453509;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000425431;ENST00000353070;ENST00000315608;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.26	2.41	0.29592	.	0.216731	0.26518	N	0.023923	T	0.44623	0.1302	M	0.73598	2.24	0.24736	N	0.993067	D;D;D;B;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.201;1.0;1.0;0.999;1.0;0.999	D;D;D;B;D;D;D;D;P	0.91635	0.998;0.992;0.999;0.034;0.998;0.999;0.951;0.997;0.901	T	0.14811	-1.0459	10	0.49607	T	0.09	-4.3142	6.7758	0.23619	0.0:0.7917:0.0:0.2083	.	257;238;147;73;162;202;113;187;168	P26436;P26436-2;P26436-8;P26436-11;P26436-6;P26436-3;P26436-10;P26436-4;P26436-5	ASPX_HUMAN;.;.;.;.;.;.;.;.	Q	257;238;202;187;168;162;157;147;113;73;238;202;187	ENSP00000432816:R257Q;ENSP00000407846:R238Q;ENSP00000257382:R202Q;ENSP00000411583:R187Q;ENSP00000397448:R168Q;ENSP00000412653:R162Q;ENSP00000257385:R157Q;ENSP00000257383:R147Q;ENSP00000395453:R113Q;ENSP00000257386:R73Q;ENSP00000317684:R238Q;ENSP00000433720:R202Q;ENSP00000436819:R187Q	ENSP00000257382:R202Q	R	-	2	0	ACRV1	125047726	0.471000	0.25862	0.508000	0.27688	0.865000	0.49528	0.262000	0.18460	0.762000	0.33152	0.643000	0.83706	CGA	ACRV1	-	NULL	ENSG00000134940		0.423	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACRV1	HGNC	protein_coding	OTTHUMT00000386722.1	451	0.22	1	C	NM_001612		125542516	125542516	-1	no_errors	ENST00000533904	ensembl	human	known	69_37n	missense	379	12.41	54	SNP	0.537	T
ACSBG1	23205	genome.wustl.edu	37	15	78471059	78471059	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:78471059C>T	ENST00000258873.4	-	11	1804	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	ACSBG1_ENST00000560817.1_Silent_p.E291E|ACSBG1_ENST00000541759.1_Silent_p.E291E	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	533					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AAGTCTTGTCCTCCATGTTCA	0.622																																						dbGAP											0													117.0	76.0	90.0					15																	78471059		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1599G>A	15.37:g.78471059C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.E533	ENST00000258873.4	37	c.1599	CCDS10298.1	15																																																																																			ACSBG1	-	pfam_AMP-dep_Synth/Lig	ENSG00000103740		0.622	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	70	0.00	0	C	NM_015162		78471059	78471059	-1	no_errors	ENST00000258873	ensembl	human	known	69_37n	silent	27	27.03	10	SNP	0.981	T
ACSBG2	81616	genome.wustl.edu	37	19	6183142	6183142	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6183142T>G	ENST00000586696.1	+	10	1457	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	ACSBG2_ENST00000588485.1_Missense_Mutation_p.F207C|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.F344C|ACSBG2_ENST00000591403.1_Missense_Mutation_p.F394C|ACSBG2_ENST00000252669.5_Missense_Mutation_p.F394C			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	394					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCACTCTTTTATCAGTGGG	0.488																																						dbGAP											0													110.0	103.0	105.0					19																	6183142		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1181T>G	19.37:g.6183142T>G	ENSP00000465589:p.Phe394Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.F394C	ENST00000586696.1	37	c.1181	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	T	9.173	1.021712	0.19433	.	.	ENSG00000130377	ENST00000252669	T	0.42513	0.97	5.16	0.504	0.16946	AMP-dependent synthetase/ligase (1);	0.577076	0.14494	N	0.316181	T	0.20292	0.0488	N	0.16266	0.395	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.21151	0.033;0.02	T	0.13469	-1.0508	10	0.30078	T	0.28	-14.7486	1.1519	0.01787	0.1368:0.186:0.3081:0.3691	.	394;394	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	C	394	ENSP00000252669:F394C	ENSP00000252669:F394C	F	+	2	0	ACSBG2	6134142	0.947000	0.32204	0.000000	0.03702	0.001000	0.01503	1.656000	0.37355	0.294000	0.22547	-0.263000	0.10527	TTT	ACSBG2	-	pfam_AMP-dep_Synth/Lig	ENSG00000130377		0.488	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	110	0.00	0	T	NM_030924		6183142	6183142	+1	no_errors	ENST00000252669	ensembl	human	known	69_37n	missense	114	18.57	26	SNP	0.109	G
ACSBG2	81616	genome.wustl.edu	37	19	6183180	6183180	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6183180G>A	ENST00000586696.1	+	10	1495	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ACSBG2_ENST00000588485.1_Missense_Mutation_p.E220K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.E357K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E407K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E407K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	407					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.E407K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAGACTGCCGAGTTCTTTCT	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											90.0	86.0	87.0					19																	6183180		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1219G>A	19.37:g.6183180G>A	ENSP00000465589:p.Glu407Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E407K	ENST00000586696.1	37	c.1219	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561824	0.27915	.	.	ENSG00000130377	ENST00000252669	T	0.42900	0.96	5.04	3.99	0.46301	AMP-dependent synthetase/ligase (1);	0.188247	0.26122	N	0.026220	T	0.41949	0.1181	L	0.42581	1.335	0.80722	D	1	P;D	0.56746	0.796;0.977	B;P	0.51777	0.252;0.679	T	0.22277	-1.0221	10	0.07813	T	0.8	-47.2855	14.0545	0.64759	0.0:0.1525:0.8475:0.0	.	407;407	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	K	407	ENSP00000252669:E407K	ENSP00000252669:E407K	E	+	1	0	ACSBG2	6134180	1.000000	0.71417	0.791000	0.31998	0.192000	0.23643	4.234000	0.58658	1.080000	0.41073	0.650000	0.86243	GAG	ACSBG2	-	pfam_AMP-dep_Synth/Lig	ENSG00000130377		0.498	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	128	0.00	0	G	NM_030924		6183180	6183180	+1	no_errors	ENST00000252669	ensembl	human	known	69_37n	missense	126	13.61	20	SNP	0.998	A
ACSBG2	81616	genome.wustl.edu	37	19	6187351	6187351	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6187351T>C	ENST00000586696.1	+	12	1874	c.1598T>C	c.(1597-1599)gTt>gCt	p.V533A	ACSBG2_ENST00000588485.1_Missense_Mutation_p.V346A|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.V483A|ACSBG2_ENST00000591403.1_Missense_Mutation_p.V533A|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V533A			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	533					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGACCTTGGTTAAGAAGAAG	0.468																																						dbGAP											0													142.0	127.0	132.0					19																	6187351		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1598T>C	19.37:g.6187351T>C	ENSP00000465589:p.Val533Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V533A	ENST00000586696.1	37	c.1598	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573110	0.45902	.	.	ENSG00000130377	ENST00000252669	T	0.11495	2.77	5.35	4.33	0.51752	AMP-dependent synthetase/ligase (1);	0.166402	0.28796	N	0.014114	T	0.31734	0.0806	M	0.82132	2.575	0.45415	D	0.998393	D;D	0.69078	0.974;0.997	D;D	0.70487	0.911;0.969	T	0.03287	-1.1052	10	0.87932	D	0	-38.7128	10.0112	0.41988	0.0:0.0802:0.0:0.9198	.	533;533	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	533	ENSP00000252669:V533A	ENSP00000252669:V533A	V	+	2	0	ACSBG2	6138351	1.000000	0.71417	0.023000	0.16930	0.043000	0.13939	5.937000	0.70162	0.874000	0.35823	0.533000	0.62120	GTT	ACSBG2	-	pfam_AMP-dep_Synth/Lig	ENSG00000130377		0.468	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	118	0.00	0	T	NM_030924		6187351	6187351	+1	no_errors	ENST00000252669	ensembl	human	known	69_37n	missense	124	11.43	16	SNP	0.967	C
ACSBG2	81616	genome.wustl.edu	37	19	6187618	6187618	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6187618G>A	ENST00000586696.1	+	13	1965	c.1689G>A	c.(1687-1689)atG>atA	p.M563I	ACSBG2_ENST00000588485.1_Missense_Mutation_p.M376I|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588304.1_Missense_Mutation_p.M513I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.M563I|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000252669.5_Missense_Mutation_p.M563I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	563					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGTGAGATGAATCAGATGA	0.577																																						dbGAP											0													119.0	90.0	100.0					19																	6187618		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1689G>A	19.37:g.6187618G>A	ENSP00000465589:p.Met563Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.M563I	ENST00000586696.1	37	c.1689	CCDS12159.1	19	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872915	0.17322	.	.	ENSG00000130377	ENST00000252669	T	0.09073	3.02	5.21	-10.4	0.00318	.	2.136790	0.02324	N	0.073298	T	0.02848	0.0085	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29731	-1.0002	10	0.16896	T	0.51	-5.1025	11.2634	0.49095	0.1213:0.598:0.2177:0.0629	.	563	Q5FVE4	ACBG2_HUMAN	I	563	ENSP00000252669:M563I	ENSP00000252669:M563I	M	+	3	0	ACSBG2	6138618	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.731000	0.00381	-3.119000	0.00239	-0.150000	0.13652	ATG	ACSBG2	-	NULL	ENSG00000130377		0.577	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	228	0.00	0	G	NM_030924		6187618	6187618	+1	no_errors	ENST00000252669	ensembl	human	known	69_37n	missense	203	10.96	25	SNP	0.000	A
ACSL1	2180	genome.wustl.edu	37	4	185678839	185678839	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:185678839C>T	ENST00000515030.1	-	20	2231	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ACSL1_ENST00000507295.1_Missense_Mutation_p.E602K|ACSL1_ENST00000504342.1_Missense_Mutation_p.E636K|ACSL1_ENST00000454703.2_Missense_Mutation_p.E465K|ACSL1_ENST00000437665.3_Missense_Mutation_p.E465K|ACSL1_ENST00000281455.2_Missense_Mutation_p.E636K|ACSL1_ENST00000513317.1_Missense_Mutation_p.E636K			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	636					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCATATCTTCGAGGATAGCT	0.368																																						dbGAP											0													161.0	168.0	166.0					4																	185678839		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1906G>A	4.37:g.185678839C>T	ENSP00000422607:p.Glu636Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E636K	ENST00000515030.1	37	c.1906	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371779	0.61624	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	5.34	5.34	0.76211	.	0.141151	0.64402	D	0.000006	T	0.07863	0.0197	L	0.28115	0.83	0.80722	D	1	B;P;P;P	0.38617	0.076;0.507;0.507;0.64	B;B;B;B	0.28638	0.007;0.068;0.042;0.092	T	0.38824	-0.9643	10	0.16896	T	0.51	-8.2388	19.0401	0.92995	0.0:1.0:0.0:0.0	.	602;636;636;626	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	K	465;636;232;636;602;465;636;636	ENSP00000407165:E465K;ENSP00000422607:E636K;ENSP00000425098:E232K;ENSP00000281455:E636K;ENSP00000426244:E602K;ENSP00000405687:E465K;ENSP00000425006:E636K;ENSP00000426150:E636K	ENSP00000281455:E636K	E	-	1	0	ACSL1	185915833	1.000000	0.71417	0.963000	0.40424	0.691000	0.40173	4.792000	0.62467	2.493000	0.84123	0.591000	0.81541	GAA	ACSL1	-	NULL	ENSG00000151726		0.368	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	356	0.28	1	C	NM_001995		185678839	185678839	-1	no_errors	ENST00000281455	ensembl	human	known	69_37n	missense	291	11.55	38	SNP	0.999	T
ACSL1	2180	genome.wustl.edu	37	4	185681557	185681557	+	Missense_Mutation	SNP	C	C	T	rs202112997		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:185681557C>T	ENST00000515030.1	-	18	2061	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	ACSL1_ENST00000507295.1_Missense_Mutation_p.R545Q|ACSL1_ENST00000504342.1_Missense_Mutation_p.R579Q|ACSL1_ENST00000454703.2_Missense_Mutation_p.R408Q|ACSL1_ENST00000437665.3_Missense_Mutation_p.R408Q|ACSL1_ENST00000281455.2_Missense_Mutation_p.R579Q|ACSL1_ENST00000513317.1_Missense_Mutation_p.R579Q			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	579					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCTCACTTCGCATGTAGAT	0.448																																						dbGAP											0													279.0	294.0	289.0					4																	185681557		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1736G>A	4.37:g.185681557C>T	ENSP00000422607:p.Arg579Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R579Q	ENST00000515030.1	37	c.1736	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374158	0.42105	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.55	5.55	0.83447	AMP-dependent synthetase/ligase (1);	0.123149	0.53938	D	0.000060	T	0.22513	0.0543	L	0.41632	1.29	0.58432	D	0.999998	B;P;P;P	0.48162	0.371;0.838;0.906;0.885	B;B;B;B	0.42282	0.037;0.382;0.382;0.263	T	0.01001	-1.1485	10	0.30078	T	0.28	-13.1867	19.5066	0.95118	0.0:1.0:0.0:0.0	.	545;579;579;569	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	Q	408;579;175;579;545;408;579;579	ENSP00000407165:R408Q;ENSP00000422607:R579Q;ENSP00000425098:R175Q;ENSP00000281455:R579Q;ENSP00000426244:R545Q;ENSP00000405687:R408Q;ENSP00000425006:R579Q;ENSP00000426150:R579Q	ENSP00000281455:R579Q	R	-	2	0	ACSL1	185918551	1.000000	0.71417	0.928000	0.36995	0.074000	0.17049	3.797000	0.55514	2.612000	0.88384	0.655000	0.94253	CGA	ACSL1	-	pfam_AMP-dep_Synth/Lig	ENSG00000151726		0.448	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	368	0.00	0	C	NM_001995		185681557	185681557	-1	no_errors	ENST00000281455	ensembl	human	known	69_37n	missense	190	20.50	49	SNP	0.998	T
ACSL1	2180	genome.wustl.edu	37	4	185724638	185724638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:185724638G>A	ENST00000515030.1	-	2	356	c.31C>T	c.(31-33)Cga>Tga	p.R11*	ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R11*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R11*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R11*|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R11*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R11*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	11					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTGGCATTCGAAAATACCGG	0.493																																						dbGAP											0													145.0	108.0	120.0					4																	185724638		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.31C>T	4.37:g.185724638G>A	ENSP00000422607:p.Arg11*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R11*	ENST00000515030.1	37	c.31	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.897576	0.97920	.	.	ENSG00000151726	ENST00000515030;ENST00000281455;ENST00000507295;ENST00000504342;ENST00000513317;ENST00000504900	.	.	.	5.04	4.19	0.49359	.	0.134339	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5684	14.1404	0.65316	0.0:0.0:0.7286:0.2714	.	.	.	.	X	11	.	ENSP00000281455:R11X	R	-	1	2	ACSL1	185961632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	1.324000	0.45282	0.655000	0.94253	CGA	ACSL1	-	NULL	ENSG00000151726		0.493	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	243	0.00	0	G	NM_001995		185724638	185724638	-1	no_errors	ENST00000281455	ensembl	human	known	69_37n	nonsense	172	31.47	79	SNP	1.000	A
ACSL4	2182	genome.wustl.edu	37	X	108926712	108926712	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:108926712T>C	ENST00000469796.2	-	3	400	c.4A>G	c.(4-6)Aaa>Gaa	p.K2E	ACSL4_ENST00000348502.6_Intron|ACSL4_ENST00000340800.2_Missense_Mutation_p.K2E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	2					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AGCTTAAGTTTCATAGTGGAA	0.343																																					Pancreas(188;358 2127 38547 41466 45492)	dbGAP											0													59.0	57.0	58.0					X																	108926712		2198	4296	6494	-	-	-	SO:0001583	missense	0			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.4A>G	X.37:g.108926712T>C	ENSP00000419171:p.Lys2Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K2E	ENST00000469796.2	37	c.4	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445306	0.63178	.	.	ENSG00000068366	ENST00000469796;ENST00000340800;ENST00000502391;ENST00000508092;ENST00000504980;ENST00000469857	T;T	0.35048	1.33;1.33	5.42	4.26	0.50523	.	0.496465	0.23273	N	0.049999	T	0.32164	0.0820	L	0.35854	1.095	0.26648	N	0.972158	P	0.51057	0.941	P	0.45167	0.472	T	0.13176	-1.0519	10	0.72032	D	0.01	-2.6152	10.3036	0.43667	0.0:0.0781:0.0:0.9219	.	2	O60488	ACSL4_HUMAN	E	2	ENSP00000419171:K2E;ENSP00000339787:K2E	ENSP00000339787:K2E	K	-	1	0	ACSL4	108813368	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.935000	0.56560	0.714000	0.32081	0.412000	0.27726	AAA	ACSL4	-	NULL	ENSG00000068366		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	115	0.00	0	T	NM_004458		108926712	108926712	-1	no_errors	ENST00000340800	ensembl	human	known	69_37n	missense	88	23.48	27	SNP	1.000	C
ACSL6	23305	genome.wustl.edu	37	5	131323806	131323806	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:131323806C>T	ENST00000379240.1	-	7	844	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ACSL6_ENST00000379255.1_Missense_Mutation_p.E196K|ACSL6_ENST00000357096.1_Missense_Mutation_p.E196K|ACSL6_ENST00000379249.3_Missense_Mutation_p.E231K|ACSL6_ENST00000379246.1_Missense_Mutation_p.E242K|ACSL6_ENST00000379272.2_Missense_Mutation_p.E246K|ACSL6_ENST00000379264.2_Missense_Mutation_p.E256K|ACSL6_ENST00000544770.1_Missense_Mutation_p.E140K|ACSL6_ENST00000543479.1_Missense_Mutation_p.E231K|ACSL6_ENST00000379244.1_Missense_Mutation_p.E231K|ACSL6_ENST00000296869.4_Missense_Mutation_p.E256K|ACSL6_ENST00000431707.1_Missense_Mutation_p.E211K			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	231					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGGCTTCTTCGAATGGGTCC	0.562																																						dbGAP											0													303.0	278.0	287.0					5																	131323806		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.691G>A	5.37:g.131323806C>T	ENSP00000368542:p.Glu231Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E256K	ENST00000379240.1	37	c.766		5	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603147	0.46423	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.193016	0.56097	D	0.000040	T	0.26810	0.0656	N	0.05199	-0.095	0.58432	D	0.999998	B;B;B;B;B;B;B	0.31227	0.268;0.033;0.018;0.314;0.033;0.033;0.033	B;B;B;B;B;B;B	0.29663	0.093;0.01;0.008;0.105;0.006;0.01;0.01	T	0.08371	-1.0725	10	0.27082	T	0.32	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	231;246;221;231;196;256;256	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	K	231;256;246;196;196;256;242;231;140;231;211;231;196	ENSP00000368551:E231K;ENSP00000368566:E256K;ENSP00000368574:E246K;ENSP00000349608:E196K;ENSP00000368557:E196K;ENSP00000296869:E256K;ENSP00000368548:E242K;ENSP00000368546:E231K;ENSP00000445154:E140K;ENSP00000368542:E231K;ENSP00000413329:E211K;ENSP00000442124:E231K;ENSP00000397507:E196K	ENSP00000296869:E256K	E	-	1	0	ACSL6	131351705	1.000000	0.71417	0.887000	0.34795	0.007000	0.05969	6.022000	0.70839	2.811000	0.96726	0.555000	0.69702	GAA	ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.562	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	269	0.00	0	C	NM_015256		131323806	131323806	-1	no_errors	ENST00000296869	ensembl	human	known	69_37n	missense	221	13.28	34	SNP	0.998	T
ACSM2A	123876	genome.wustl.edu	37	16	20486988	20486988	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20486988C>A	ENST00000573854.1	+	8	1105	c.991C>A	c.(991-993)Cta>Ata	p.L331I	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.L103I|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L331I|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L331I|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L331I|ACSM2A_ENST00000417235.2_Missense_Mutation_p.L252I	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	331					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTTCCCCCATCTACAGAACTG	0.522																																						dbGAP											0													125.0	129.0	128.0					16																	20486988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.991C>A	16.37:g.20486988C>A	ENSP00000459451:p.Leu331Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.L331I	ENST00000573854.1	37	c.991	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171071	0.78452	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	3.76	3.76	0.43208	AMP-dependent synthetase/ligase (1);	0.000000	0.37219	N	0.002188	T	0.66713	0.2817	L	0.55743	1.74	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.71870	0.975;0.975	T	0.70197	-0.4938	10	0.54805	T	0.06	-10.3361	15.5854	0.76479	0.0:1.0:0.0:0.0	.	252;331	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	I	252;331;103;331	ENSP00000392169:L252I;ENSP00000219054:L331I;ENSP00000445082:L103I;ENSP00000379411:L331I	ENSP00000219054:L331I	L	+	1	2	ACSM2A	20394489	0.991000	0.36638	0.109000	0.21407	0.476000	0.33039	3.262000	0.51538	1.809000	0.52856	0.298000	0.19748	CTA	ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.522	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	281	0.00	0	C	NM_001010845		20486988	20486988	+1	no_errors	ENST00000219054	ensembl	human	known	69_37n	missense	175	15.87	33	SNP	0.931	A
ACSM3	6296	genome.wustl.edu	37	16	20788847	20788847	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20788847C>T	ENST00000289416.5	+	4	1058	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	ACSM3_ENST00000450120.2_Silent_p.L150L|ACSM3_ENST00000440284.2_Silent_p.L195L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	195					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GCACTCCAAGCTGATTGTATC	0.448																																						dbGAP											0													56.0	53.0	54.0					16																	20788847		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.583C>T	16.37:g.20788847C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A153V	ENST00000289416.5	37	c.458	CCDS10589.1	16																																																																																			ACSM3	-	pfam_AMP-dep_Synth/Lig	ENSG00000005187		0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	112	0.00	0	C	NM_005622		20788847	20788847	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562251	ensembl	human	novel	69_37n	missense	59	16.90	12	SNP	0.867	T
ACSM3	6296	genome.wustl.edu	37	16	20803563	20803563	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20803563G>A	ENST00000289416.5	+	12	1935	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.R479Q|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	487					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TCTAGCTATCGAATTGGACCA	0.448																																						dbGAP											0													289.0	296.0	294.0					16																	20803563		2201	4300	6501	-	-	-	SO:0001583	missense	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1460G>A	16.37:g.20803563G>A	ENSP00000289416:p.Arg487Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R487Q	ENST00000289416.5	37	c.1460	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781896	0.90282	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	T;T	0.57436	0.4;0.4	5.5	4.55	0.56014	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000001	T	0.68311	0.2987	M	0.73319	2.225	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62184	0.899;0.879	T	0.72737	-0.4203	10	0.72032	D	0.01	-5.314	14.1423	0.65327	0.072:0.0:0.928:0.0	.	479;487	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	Q	487;479	ENSP00000289416:R487Q;ENSP00000395297:R479Q	ENSP00000289416:R487Q	R	+	2	0	ACSM3	20711064	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.313000	0.72844	1.334000	0.45468	0.555000	0.69702	CGA	ACSM3	-	pfam_AMP-dep_Synth/Lig	ENSG00000005187		0.448	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	213	0.00	0	G	NM_005622		20803563	20803563	+1	no_errors	ENST00000289416	ensembl	human	known	69_37n	missense	98	12.50	14	SNP	1.000	A
ACSM4	341392	genome.wustl.edu	37	12	7480957	7480957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:7480957G>A	ENST00000399422.4	+	13	1779	c.1731G>A	c.(1729-1731)tgG>tgA	p.W577*		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	577					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCAAGAATGGAGAGGAAGAT	0.358																																						dbGAP											0													75.0	67.0	69.0					12																	7480957		1839	4094	5933	-	-	-	SO:0001587	stop_gained	0				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1731G>A	12.37:g.7480957G>A	ENSP00000382349:p.Trp577*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTI6	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W577*	ENST00000399422.4	37	c.1731	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535259	0.85812	.	.	ENSG00000215009	ENST00000399422	.	.	.	2.73	2.73	0.32206	.	0.000000	0.37437	U	0.002084	.	.	.	.	.	.	0.33831	D	0.630283	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3611	11.6306	0.51173	0.0:0.0:1.0:0.0	.	.	.	.	X	577	.	ENSP00000382349:W577X	W	+	3	0	ACSM4	7372224	1.000000	0.71417	0.960000	0.40013	0.774000	0.43823	7.552000	0.82192	1.838000	0.53458	0.655000	0.94253	TGG	ACSM4	-	NULL	ENSG00000215009		0.358	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	239	0.00	0	G	NM_001080454		7480957	7480957	+1	no_errors	ENST00000399422	ensembl	human	novel	69_37n	nonsense	121	14.79	21	SNP	1.000	A
ACSS3	79611	genome.wustl.edu	37	12	81627231	81627231	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:81627231C>A	ENST00000548058.1	+	13	2610	c.1700C>A	c.(1699-1701)tCt>tAt	p.S567Y	ACSS3_ENST00000261206.3_Missense_Mutation_p.S566Y|ACSS3_ENST00000548324.1_Missense_Mutation_p.S249Y			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	567						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CACAGAATTTCTGCAGGCGCC	0.388																																						dbGAP											0													208.0	204.0	205.0					12																	81627231		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1700C>A	12.37:g.81627231C>A	ENSP00000449535:p.Ser567Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.S567Y	ENST00000548058.1	37	c.1700	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686976	0.88639	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.51071	2.78;2.78;0.72	5.84	5.84	0.93424	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.76110	-0.3079	10	0.87932	D	0	-14.1268	19.7715	0.96367	0.0:1.0:0.0:0.0	.	249;567	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	Y	567;566;249	ENSP00000449535:S567Y;ENSP00000261206:S566Y;ENSP00000448965:S249Y	ENSP00000261206:S566Y	S	+	2	0	ACSS3	80151362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.340000	0.79292	2.777000	0.95525	0.650000	0.86243	TCT	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.388	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	382	0.00	0	C	NM_024560		81627231	81627231	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	238	30.81	106	SNP	1.000	A
ACTG2	72	genome.wustl.edu	37	2	74136181	74136181	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74136181G>T	ENST00000409624.1	+	6	1009		c.e6-1		ACTG2_ENST00000409731.3_Splice_Site|ACTG2_ENST00000345517.3_Splice_Site			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric						muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TGTCCTTTAAGATCATGTTTG	0.438																																						dbGAP											0													202.0	185.0	191.0					2																	74136181		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.367-1G>T	2.37:g.74136181G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Splice_Site	SNP	-	e4-1	ENST00000409624.1	37	c.367-1	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035864	0.75617	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4421	0.87567	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACTG2	73989689	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.504000	0.97986	2.724000	0.93272	0.462000	0.41574	.	ACTG2	-	-	ENSG00000163017		0.438	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	257	0.39	1	G	NM_001615	Intron	74136181	74136181	+1	no_errors	ENST00000345517	ensembl	human	known	69_37n	splice_site	194	11.01	24	SNP	1.000	T
ACTN2	88	genome.wustl.edu	37	1	236912558	236912558	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:236912558G>A	ENST00000366578.4	+	14	1816	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E	ACTN2_ENST00000542672.1_Silent_p.E550E|ACTN2_ENST00000546208.1_Silent_p.E44E	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	550					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCATTGAGGAGATCCAGGTAA	0.438																																						dbGAP											0													98.0	88.0	91.0					1																	236912558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1650G>A	1.37:g.236912558G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E550	ENST00000366578.4	37	c.1650	CCDS1613.1	1																																																																																			ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.438	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	106	0.00	0	G	NM_001103		236912558	236912558	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	silent	105	11.02	13	SNP	0.882	A
ACTN3	89	genome.wustl.edu	37	11	66318769	66318769	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:66318769C>T	ENST00000502692.1	+	0	452				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCGAGAACATCGAGGAAGATT	0.572																																						dbGAP											0													63.0	65.0	64.0					11																	66318769		2198	4295	6493	-	-	-			0			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66318769C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP77|Q4KKV2	Silent	SNP	NULL	p.I112	ENST00000502692.1	37	c.336		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.572	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	ACTN3	HGNC	polymorphic_pseudogene	OTTHUMT00000362465.1	137	0.00	0	C	NM_001104		66318769	66318769	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	silent	80	20.00	20	SNP	1.000	T
CTSF	8722	genome.wustl.edu	37	11	66328139	66328139	+	IGR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:66328139G>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGATCCAGAAGATCTGCCAGA	0.597																																						dbGAP											0													114.0	124.0	121.0					11																	66328139		2180	4265	6445	-	-	-	SO:0001628	intergenic_variant	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66328139G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	NULL	p.K634N	ENST00000310325.5	37	c.1902	CCDS8144.1	11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.597	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN3	HGNC	protein_coding	OTTHUMT00000393047.1	60	0.00	0	G	NM_003793		66328139	66328139	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	T
ACTR10	55860	genome.wustl.edu	37	14	58698937	58698938	+	Nonsense_Mutation	DNP	CG	CG	TA	rs554639681	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:58698937_58698938CG>TA	ENST00000254286.4	+	12	1104_1105	c.1024_1025CG>TA	c.(1024-1026)CGa>TAa	p.R342*		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	342					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)		p.R342Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TAAGACATTTCGAATTCATACT	0.347																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)																																								-	-	-	SO:0001587	stop_gained	0			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	Exception_encountered	14.37:g.58698937_58698938delinsTA	ENSP00000254286:p.Arg342*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9Y5|Q9NWY2	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R342*|p.R342Q	ENST00000254286.4	37	c.1024|c.1025	CCDS32090.1	14																																																																																			ACTR10	-	pfam_Actin-like,smart_Actin-like	ENSG00000131966		0.347	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ACTR10	HGNC	protein_coding	OTTHUMT00000411405.1	172	0.00	0	C|G			58698937|58698938	58698937|58698938	+1	no_errors	ENST00000254286	ensembl	human	known	69_37n	nonsense|missense	119|144	27.98|13.17	47|22	SNP	1.000	T|A
ACTR2	10097	genome.wustl.edu	37	2	65482821	65482821	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:65482821C>A	ENST00000260641.5	+	6	885	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	ACTR2_ENST00000377982.4_Missense_Mutation_p.S248Y|ACTR2_ENST00000542850.1_Missense_Mutation_p.S188Y	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	243					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TTAGTTGAATCTTATACAGTA	0.343																																						dbGAP											0													76.0	76.0	76.0					2																	65482821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.728C>A	2.37:g.65482821C>A	ENSP00000260641:p.Ser243Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S248Y	ENST00000260641.5	37	c.743	CCDS1881.1	2	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621733	0.66787	.	.	ENSG00000138071	ENST00000260641;ENST00000542850;ENST00000377982;ENST00000535303	D;D;D	0.95001	-3.58;-3.58;-3.58	5.3	5.3	0.74995	.	0.120868	0.56097	U	0.000024	D	0.96959	0.9007	M	0.87900	2.915	0.80722	D	1	D;P;P	0.54772	0.968;0.955;0.955	P;P;P	0.55345	0.712;0.722;0.774	D	0.97615	1.0132	10	0.87932	D	0	-7.7659	18.9476	0.92627	0.0:1.0:0.0:0.0	.	188;243;248	F5H6T1;P61160;E9PF41	.;ARP2_HUMAN;.	Y	243;188;248;188	ENSP00000260641:S243Y;ENSP00000437383:S188Y;ENSP00000367220:S248Y	ENSP00000260641:S243Y	S	+	2	0	ACTR2	65336325	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	7.400000	0.79949	2.478000	0.83669	0.467000	0.42956	TCT	ACTR2	-	pfam_Actin-like,smart_Actin-like,prints_Actin-like	ENSG00000138071		0.343	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	263	0.00	0	C	NM_001005386		65482821	65482821	+1	no_errors	ENST00000377982	ensembl	human	known	69_37n	missense	200	20.32	51	SNP	1.000	A
ACTR2	10097	genome.wustl.edu	37	2	65495864	65495864	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:65495864G>A	ENST00000260641.5	+	9	1338	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	ACTR2_ENST00000377982.4_Missense_Mutation_p.R399Q	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	394					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GTGACTGTTCGATAAACTCCA	0.433																																						dbGAP											0													91.0	86.0	88.0					2																	65495864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.1181G>A	2.37:g.65495864G>A	ENSP00000260641:p.Arg394Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R399Q	ENST00000260641.5	37	c.1196	CCDS1881.1	2	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783266	0.70222	.	.	ENSG00000138071	ENST00000260641;ENST00000377982;ENST00000535303	D;D	0.94897	-3.55;-3.55	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	N	0.22421	0.69	0.80722	D	1	B;B	0.20550	0.046;0.0	B;B	0.09377	0.004;0.0	D	0.84899	0.0841	10	0.32370	T	0.25	-2.0E-4	20.3789	0.98926	0.0:0.0:1.0:0.0	.	394;399	P61160;E9PF41	ARP2_HUMAN;.	Q	394;399;339	ENSP00000260641:R394Q;ENSP00000367220:R399Q	ENSP00000260641:R394Q	R	+	2	0	ACTR2	65349368	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.441000	0.97557	2.826000	0.97356	0.563000	0.77884	CGA	ACTR2	-	NULL	ENSG00000138071		0.433	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	375	0.27	1	G	NM_001005386		65495864	65495864	+1	no_errors	ENST00000377982	ensembl	human	known	69_37n	missense	265	13.96	43	SNP	1.000	A
ACTR3	10096	genome.wustl.edu	37	2	114699934	114699934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:114699934G>T	ENST00000263238.2	+	8	1176	c.856G>T	c.(856-858)Gag>Tag	p.E286*	ACTR3_ENST00000536059.1_Nonsense_Mutation_p.E224*|ACTR3_ENST00000535589.2_Nonsense_Mutation_p.E235*	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	286					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						TTTTCATCCAGAGGTAATTTT	0.289																																						dbGAP											0													69.0	71.0	71.0					2																	114699934		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.856G>T	2.37:g.114699934G>T	ENSP00000263238:p.Glu286*	Somatic		WXS	Illumina GAIIx	Phase_IV	P32391|Q53QM2	Nonsense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.E286*	ENST00000263238.2	37	c.856	CCDS33277.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.250057	0.95305	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.5972	18.1184	0.89563	0.0:0.0:1.0:0.0	.	.	.	.	X	286;224;157;235	.	ENSP00000263238:E286X	E	+	1	0	ACTR3	114416404	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.657000	0.98554	2.504000	0.84457	0.313000	0.20887	GAG	ACTR3	-	pfam_Actin-like,smart_Actin-like	ENSG00000115091		0.289	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3	HGNC	protein_coding	OTTHUMT00000331366.2	247	0.00	0	G	NM_005721		114699934	114699934	+1	no_errors	ENST00000263238	ensembl	human	known	69_37n	nonsense	161	12.02	22	SNP	1.000	T
ACTR5	79913	genome.wustl.edu	37	20	37378744	37378744	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:37378744A>G	ENST00000243903.4	+	2	504	c.467A>G	c.(466-468)tAc>tGc	p.Y156C		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	156					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TTTGAGTGCTACGGGATTCCC	0.453																																						dbGAP											0													149.0	133.0	139.0					20																	37378744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.467A>G	20.37:g.37378744A>G	ENSP00000243903:p.Tyr156Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.Y156C	ENST00000243903.4	37	c.467	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660182	0.67586	.	.	ENSG00000101442	ENST00000243903	D	0.97665	-4.48	4.71	4.71	0.59529	.	0.062054	0.64402	D	0.000003	D	0.98485	0.9495	M	0.90922	3.16	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	D	0.99568	1.0970	10	0.87932	D	0	-13.188	14.5077	0.67764	1.0:0.0:0.0:0.0	.	156	Q9H9F9	ARP5_HUMAN	C	156	ENSP00000243903:Y156C	ENSP00000243903:Y156C	Y	+	2	0	ACTR5	36812158	1.000000	0.71417	0.873000	0.34254	0.754000	0.42855	8.864000	0.92294	1.885000	0.54596	0.460000	0.39030	TAC	ACTR5	-	pfam_Actin-like,smart_Actin-like	ENSG00000101442		0.453	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	247	0.00	0	A	NM_024855		37378744	37378744	+1	no_errors	ENST00000243903	ensembl	human	known	69_37n	missense	134	26.37	48	SNP	0.997	G
ACTR8	93973	genome.wustl.edu	37	3	53907117	53907117	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:53907117C>T	ENST00000335754.3	-	9	1203	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	ACTR8_ENST00000231909.7_Missense_Mutation_p.R73Q|ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Missense_Mutation_p.R257Q	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	368					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATCAGGATGTCGAATCTGAAA	0.403																																						dbGAP											0													81.0	76.0	78.0					3																	53907117		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1103G>A	3.37:g.53907117C>T	ENSP00000336842:p.Arg368Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R368Q	ENST00000335754.3	37	c.1103	CCDS2875.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.490057|5.490057	0.96339|0.96339	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000486794|ENST00000335754;ENST00000482349;ENST00000231909	.|D;D;D	.|0.97256	.|-3.39;-3.39;-4.31	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96156|0.96156	0.8747|0.8747	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|P;P	.|0.50272	.|0.892;0.933	.|B;B	.|0.43990	.|0.421;0.438	D|D	0.94898|0.94898	0.8054|0.8054	5|10	.|0.30854	.|T	.|0.27	-5.6748|-5.6748	19.0599|19.0599	0.93085|0.93085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|368;73	.|Q9H981;Q9H981-3	.|ARP8_HUMAN;.	N|Q	122|368;257;73	.|ENSP00000336842:R368Q;ENSP00000419429:R257Q;ENSP00000231909:R73Q	.|ENSP00000231909:R73Q	D|R	-|-	1|2	0|0	ACTR8|ACTR8	53882157|53882157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.958000|6.958000	0.76025|0.76025	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAC|CGA	ACTR8	-	pfam_Actin-like,smart_Actin-like	ENSG00000113812		0.403	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR8	HGNC	protein_coding	OTTHUMT00000350562.2	130	0.00	0	C	NM_022899		53907117	53907117	-1	no_errors	ENST00000335754	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	1.000	T
ADAD1	132612	genome.wustl.edu	37	4	123333851	123333851	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:123333851G>T	ENST00000296513.2	+	10	1321	c.1136G>T	c.(1135-1137)aGa>aTa	p.R379I	ADAD1_ENST00000388725.2_Missense_Mutation_p.R361I|ADAD1_ENST00000388724.2_Missense_Mutation_p.R368I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	379	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTGTTAATAGAATAAGCAGT	0.408																																						dbGAP											0													226.0	212.0	217.0					4																	123333851		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1136G>T	4.37:g.123333851G>T	ENSP00000296513:p.Arg379Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.R379I	ENST00000296513.2	37	c.1136	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338362	0.81911	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.94497	-3.44;-3.44;-3.44	5.26	5.26	0.73747	Adenosine deaminase/editase (3);	0.050925	0.85682	D	0.000000	D	0.96996	0.9019	M	0.86343	2.81	0.54753	D	0.999984	D;D	0.76494	0.993;0.999	P;D	0.64595	0.906;0.927	D	0.97340	0.9956	10	0.87932	D	0	-19.9178	12.2404	0.54538	0.0781:0.0:0.9219:0.0	.	368;379	Q96M93-2;Q96M93	.;ADAD1_HUMAN	I	379;368;361	ENSP00000296513:R379I;ENSP00000373376:R368I;ENSP00000373377:R361I	ENSP00000296513:R379I	R	+	2	0	ADAD1	123553301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.056000	0.49923	2.452000	0.82932	0.563000	0.77884	AGA	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.408	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	364	0.00	0	G	NM_139243		123333851	123333851	+1	no_errors	ENST00000296513	ensembl	human	known	69_37n	missense	249	12.63	36	SNP	1.000	T
ADAM18	8749	genome.wustl.edu	37	8	39467047	39467047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:39467047C>A	ENST00000265707.5	+	5	356	c.311C>A	c.(310-312)tCa>tAa	p.S104*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.S104*|ADAM18_ENST00000520772.1_Nonsense_Mutation_p.S104*|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTCCAAATTCATTTGTGACA	0.318																																						dbGAP											0													100.0	94.0	96.0					8																	39467047		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.311C>A	8.37:g.39467047C>A	ENSP00000265707:p.Ser104*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.S104*	ENST00000265707.5	37	c.311	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523101	0.64747	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000520772;ENST00000522198	.	.	.	4.89	4.89	0.63831	.	0.000000	0.40908	D	0.000986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7409	0.62847	0.0:1.0:0.0:0.0	.	.	.	.	X	104;104;104;60	.	ENSP00000265707:S104X	S	+	2	0	ADAM18	39586204	0.985000	0.35326	0.417000	0.26559	0.723000	0.41478	3.501000	0.53325	2.684000	0.91462	0.650000	0.86243	TCA	ADAM18	-	pfam_Peptidase_M12B_N	ENSG00000168619		0.318	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	231	0.00	0	C	NM_014237		39467047	39467047	+1	no_errors	ENST00000265707	ensembl	human	known	69_37n	nonsense	91	26.61	33	SNP	0.516	A
ADAM19	8728	genome.wustl.edu	37	5	156991409	156991409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:156991409C>A	ENST00000517905.1	-	3	267	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	ADAM19_ENST00000394020.1_Nonsense_Mutation_p.E77*|AC106801.1_ENST00000518054.1_RNA|ADAM19_ENST00000257527.4_Nonsense_Mutation_p.E75*|ADAM19_ENST00000430702.2_5'UTR			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	75					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGATCAGTTCTCGCCCCTCA	0.498																																						dbGAP											0													113.0	102.0	106.0					5																	156991409		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.223G>T	5.37:g.156991409C>A	ENSP00000428654:p.Glu75*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZL5|Q9UHP2	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E77*	ENST00000517905.1	37	c.229		5	.	.	.	.	.	.	.	.	.	.	C	37	6.102313	0.97286	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	.	.	.	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	14.9742	0.71257	0.0:1.0:0.0:0.0	.	.	.	.	X	75;77;75	.	ENSP00000257527:E75X	E	-	1	0	ADAM19	156923987	0.999000	0.42202	0.941000	0.38009	0.993000	0.82548	4.021000	0.57196	2.595000	0.87683	0.655000	0.94253	GAA	ADAM19	-	pfam_Peptidase_M12B_N	ENSG00000135074		0.498	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	149	0.00	0	C	NM_033274		156991409	156991409	-1	no_errors	ENST00000394020	ensembl	human	known	69_37n	nonsense	123	15.75	23	SNP	0.989	A
ADAMTS1	9510	genome.wustl.edu	37	21	28212300	28212300	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:28212300C>T	ENST00000284984.3	-	6	2200	c.1746G>A	c.(1744-1746)acG>acA	p.T582T		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	582	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATTCCCTCATCGTGTACTGGA	0.517																																						dbGAP											0													148.0	120.0	129.0					21																	28212300		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1746G>A	21.37:g.28212300C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.T582	ENST00000284984.3	37	c.1746	CCDS33524.1	21																																																																																			ADAMTS1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	ENSG00000154734		0.517	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	127	0.00	0	C			28212300	28212300	-1	no_errors	ENST00000284984	ensembl	human	known	69_37n	silent	74	21.28	20	SNP	0.003	T
ADAMTS10	81794	genome.wustl.edu	37	19	8656866	8656866	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:8656866G>A	ENST00000597188.1	-	14	1979	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.S570F|ADAMTS10_ENST00000595838.1_Silent_p.L61L	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	570	Poly-Ser.|TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GTGACGGCTAGAAGAGGACAC	0.716																																						dbGAP											0													19.0	21.0	20.0					19																	8656866		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1709C>T	19.37:g.8656866G>A	ENSP00000471851:p.Ser570Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	M0QZE4	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S570F	ENST00000597188.1	37	c.1709	CCDS12206.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.166988	0.94768	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.52983	0.64	4.75	4.75	0.60458	.	0.148189	0.47455	D	0.000240	T	0.68586	0.3017	M	0.76433	2.335	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.75020	0.985;0.983	T	0.73332	-0.4016	10	0.66056	D	0.02	.	16.7371	0.85449	0.0:0.0:1.0:0.0	.	324;570	Q59FE5;Q9H324	.;ATS10_HUMAN	F	570;324	ENSP00000270328:S570F	ENSP00000270328:S570F	S	-	2	0	ADAMTS10	8562866	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.288000	0.96055	2.176000	0.68965	0.467000	0.42956	TCT	ADAMTS10	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	ENSG00000142303		0.716	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	35	0.00	0	G	NM_030957		8656866	8656866	-1	no_errors	ENST00000270328	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	A
ADAMTS12	81792	genome.wustl.edu	37	5	33527410	33527410	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:33527410C>A	ENST00000504830.1	-	24	5003	c.4668G>T	c.(4666-4668)aaG>aaT	p.K1556N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1471N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1556	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGAACATTTCTTCATGGCTT	0.468										HNSCC(64;0.19)																												dbGAP											0													172.0	156.0	162.0					5																	33527410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4668G>T	5.37:g.33527410C>A	ENSP00000422554:p.Lys1556Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1556N	ENST00000504830.1	37	c.4668	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694208	0.48202	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59364	0.27;0.27	5.93	3.99	0.46301	PLAC (1);	0.213896	0.46758	D	0.000270	T	0.49847	0.1581	L	0.44542	1.39	0.80722	D	1	P;P	0.44429	0.835;0.745	P;B	0.45232	0.474;0.282	T	0.41466	-0.9507	10	0.27082	T	0.32	.	8.5679	0.33552	0.0:0.7397:0.165:0.0953	.	1471;1556	P58397-3;P58397	.;ATS12_HUMAN	N	1556;1471	ENSP00000422554:K1556N;ENSP00000344847:K1471N	ENSP00000344847:K1471N	K	-	3	2	ADAMTS12	33563167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.425000	0.34859	1.444000	0.47605	0.655000	0.94253	AAG	ADAMTS12	-	pfscan_PLAC	ENSG00000151388		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	235	0.00	0	C	NM_030955		33527410	33527410	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	192	22.58	56	SNP	1.000	A
ADAMTS14	140766	genome.wustl.edu	37	10	72495020	72495020	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:72495020G>A	ENST00000373207.1	+	9	1448	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R486H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	483	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAGCAGTGCCGCTTTGACTTT	0.612																																						dbGAP											0													67.0	66.0	67.0					10																	72495020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1448G>A	10.37:g.72495020G>A	ENSP00000362303:p.Arg483His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R486H	ENST00000373207.1	37	c.1457	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937772	0.92458	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.70749	-0.51;-0.51	4.51	4.51	0.55191	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.79258	2.445	0.52099	D	0.999944	D;D;D	0.89917	0.997;0.994;1.0	P;P;D	0.74348	0.886;0.718;0.983	D	0.86248	0.1647	10	0.87932	D	0	.	16.5363	0.84373	0.0:0.0:1.0:0.0	.	416;483;486	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	H	486;483	ENSP00000362304:R486H;ENSP00000362303:R483H	ENSP00000362303:R483H	R	+	2	0	ADAMTS14	72165026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.516000	0.84829	0.655000	0.94253	CGC	ADAMTS14	-	smart_ADAM_Cys-rich	ENSG00000138316		0.612	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	49	0.00	0	G	NM_080722		72495020	72495020	+1	no_errors	ENST00000373208	ensembl	human	known	69_37n	missense	25	16.13	5	SNP	1.000	A
ADAMTS19	171019	genome.wustl.edu	37	5	128994347	128994347	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:128994347G>T	ENST00000274487.4	+	15	2469	c.2324G>T	c.(2323-2325)aGa>aTa	p.R775I	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	775	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTCTTGCAAGAGAAGATCAT	0.353																																						dbGAP											0													172.0	170.0	171.0					5																	128994347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2324G>T	5.37:g.128994347G>T	ENSP00000274487:p.Arg775Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R775I	ENST00000274487.4	37	c.2324	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498050	0.64186	.	.	ENSG00000145808	ENST00000274487	T	0.70516	-0.49	3.89	3.02	0.34903	.	0.072578	0.49305	D	0.000158	T	0.69450	0.3112	L	0.45698	1.435	0.58432	D	0.999997	P	0.52577	0.954	P	0.50617	0.646	T	0.68454	-0.5404	9	.	.	.	.	12.2653	0.54674	0.0847:0.0:0.9153:0.0	.	775	Q8TE59	ATS19_HUMAN	I	775	ENSP00000274487:R775I	.	R	+	2	0	ADAMTS19	129022246	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.081000	0.57627	1.220000	0.43490	0.650000	0.86243	AGA	ADAMTS19	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000145808		0.353	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	571	0.35	2	G	NM_133638		128994347	128994347	+1	no_errors	ENST00000274487	ensembl	human	known	69_37n	missense	268	31.46	123	SNP	1.000	T
ADAMTS20	80070	genome.wustl.edu	37	12	43769933	43769933	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:43769933A>G	ENST00000389420.3	-	35	5238	c.5239T>C	c.(5239-5241)Tac>Cac	p.Y1747H		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1747	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCCAAGTACATGTCTGCA	0.318																																						dbGAP											0													77.0	73.0	75.0					12																	43769933		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5239T>C	12.37:g.43769933A>G	ENSP00000374071:p.Tyr1747His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Y1747H	ENST00000389420.3	37	c.5239	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	A	0.192	-1.051988	0.01981	.	.	ENSG00000173157	ENST00000389420	T	0.16073	2.37	5.14	-0.103	0.13609	Peptidase M12B, GON-ADAMTSs (2);	0.526148	0.16928	N	0.193789	T	0.02533	0.0077	N	0.00197	-1.87	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40553	-0.9557	10	0.06757	T	0.87	.	5.3613	0.16089	0.2568:0.0:0.5188:0.2244	.	1747	P59510	ATS20_HUMAN	H	1747	ENSP00000374071:Y1747H	ENSP00000374071:Y1747H	Y	-	1	0	ADAMTS20	42056200	1.000000	0.71417	0.534000	0.28014	0.980000	0.70556	1.505000	0.35736	0.013000	0.14918	-0.137000	0.14449	TAC	ADAMTS20	-	pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs	ENSG00000173157		0.318	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	358	0.00	0	A	NM_025003		43769933	43769933	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	212	10.50	25	SNP	0.570	G
ADAMTS20	80070	genome.wustl.edu	37	12	43822586	43822586	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:43822586C>A	ENST00000389420.3	-	25	3505	c.3506G>T	c.(3505-3507)gGa>gTa	p.G1169V	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G287V|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G1169V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1169	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTACCTCTTCCACAAGATAC	0.428																																						dbGAP											0													103.0	100.0	101.0					12																	43822586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3506G>T	12.37:g.43822586C>A	ENSP00000374071:p.Gly1169Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.G1169V	ENST00000389420.3	37	c.3506	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452974	0.84209	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.0	5.0	0.66597	.	0.275783	0.25022	N	0.033744	D	0.91116	0.7203	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.79784	0.939;0.993	D	0.94406	0.7627	10	0.72032	D	0.01	.	19.1616	0.93535	0.0:1.0:0.0:0.0	.	1169;287	P59510;E9PBD5	ATS20_HUMAN;.	V	1169;299;287;1169;1169	ENSP00000374071:G1169V;ENSP00000447427:G299V;ENSP00000378911:G287V;ENSP00000448341:G1169V	ENSP00000374068:G1169V	G	-	2	0	ADAMTS20	42108853	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.409000	0.80053	2.692000	0.91855	0.585000	0.79938	GGA	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	83	0.00	0	C	NM_025003		43822586	43822586	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	1.000	A
ADAMTS20	80070	genome.wustl.edu	37	12	43823439	43823439	+	Missense_Mutation	SNP	C	C	T	rs373577605		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:43823439C>T	ENST00000389420.3	-	24	3469	c.3470G>A	c.(3469-3471)cGa>cAa	p.R1157Q	ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1157Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1157	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAACCATGTCGCCATTGTGC	0.363																																						dbGAP											0													58.0	53.0	55.0					12																	43823439		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3470G>A	12.37:g.43823439C>T	ENSP00000374071:p.Arg1157Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R1157Q	ENST00000389420.3	37	c.3470	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823559	0.90873	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.60548	0.18;0.18	4.89	4.89	0.63831	.	0.164239	0.27946	N	0.017207	T	0.69314	0.3097	L	0.45352	1.415	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.69131	-0.5226	10	0.48119	T	0.1	.	17.918	0.88958	0.0:1.0:0.0:0.0	.	1157	P59510	ATS20_HUMAN	Q	1157	ENSP00000374071:R1157Q;ENSP00000448341:R1157Q	ENSP00000374068:R1157Q	R	-	2	0	ADAMTS20	42109706	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.833000	0.69349	2.636000	0.89361	0.591000	0.81541	CGA	ADAMTS20	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	174	0.00	0	C	NM_025003		43823439	43823439	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	74	30.56	33	SNP	1.000	T
ADAMTS3	9508	genome.wustl.edu	37	4	73149340	73149340	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:73149340T>C	ENST00000286657.4	-	22	3167	c.3131A>G	c.(3130-3132)aAg>aGg	p.K1044R		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1044	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAACATAACTTGTTATAACC	0.433																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													120.0	113.0	115.0					4																	73149340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.3131A>G	4.37:g.73149340T>C	ENSP00000286657:p.Lys1044Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1044R	ENST00000286657.4	37	c.3131	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	9.723	1.160185	0.21454	.	.	ENSG00000156140	ENST00000286657	T	0.51325	0.71	5.35	2.94	0.34122	PLAC (1);	0.120124	0.53938	N	0.000044	T	0.28863	0.0716	N	0.24115	0.695	0.41965	D	0.99072	B	0.10296	0.003	B	0.12837	0.008	T	0.06409	-1.0828	10	0.12103	T	0.63	.	9.3351	0.38045	0.0:0.1453:0.0:0.8547	.	1044	O15072	ATS3_HUMAN	R	1044	ENSP00000286657:K1044R	ENSP00000286657:K1044R	K	-	2	0	ADAMTS3	73368204	1.000000	0.71417	0.927000	0.36925	0.698000	0.40448	5.180000	0.65048	0.362000	0.24319	-0.326000	0.08463	AAG	ADAMTS3	-	pfscan_PLAC	ENSG00000156140		0.433	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	196	0.00	0	T			73149340	73149340	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	missense	118	16.90	24	SNP	1.000	C
ADAMTS3	9508	genome.wustl.edu	37	4	73169723	73169723	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:73169723C>A	ENST00000286657.4	-	17	2371	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	779	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D779N(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACACCAAGATCTATGAAGGTC	0.413																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											1	Substitution - Missense(1)	lung(1)											219.0	215.0	216.0					4																	73169723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2335G>T	4.37:g.73169723C>A	ENSP00000286657:p.Asp779Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D779Y	ENST00000286657.4	37	c.2335	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370003	0.82573	.	.	ENSG00000156140	ENST00000286657	T	0.50001	0.76	5.57	5.57	0.84162	ADAM-TS Spacer 1 (1);	0.059669	0.64402	D	0.000004	T	0.56077	0.1961	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	T	0.44314	-0.9336	10	0.02654	T	1	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	779	O15072	ATS3_HUMAN	Y	779	ENSP00000286657:D779Y	ENSP00000286657:D779Y	D	-	1	0	ADAMTS3	73388587	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.991000	0.70602	2.623000	0.88846	0.655000	0.94253	GAT	ADAMTS3	-	pfam_ADAM_spacer1	ENSG00000156140		0.413	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	462	0.00	0	C			73169723	73169723	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	missense	216	11.48	28	SNP	1.000	A
ADAMTS5	11096	genome.wustl.edu	37	21	28296884	28296884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:28296884G>A	ENST00000284987.5	-	8	2402	c.2281C>T	c.(2281-2283)Cga>Tga	p.R761*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	761	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGAACTGTCGAACTTTTATG	0.443																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													138.0	141.0	140.0					21																	28296884		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2281C>T	21.37:g.28296884G>A	ENSP00000284987:p.Arg761*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LV4|Q9UKP2	Nonsense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.R761*	ENST00000284987.5	37	c.2281	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.058568	0.98632	.	.	ENSG00000154736	ENST00000284987	.	.	.	5.93	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7207	0.85410	0.0:0.0:0.8699:0.1301	.	.	.	.	X	761	.	ENSP00000284987:R761X	R	-	1	2	ADAMTS5	27218755	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.382000	0.66213	1.513000	0.48852	0.655000	0.94253	CGA	ADAMTS5	-	pfam_ADAM_spacer1	ENSG00000154736		0.443	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	148	0.00	0	G			28296884	28296884	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	nonsense	105	16.67	21	SNP	1.000	A
ADAMTS5	11096	genome.wustl.edu	37	21	28315829	28315829	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:28315829G>T	ENST00000284987.5	-	3	1396	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	425	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTCTTCACAGAATTTGGAAT	0.433																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											0													81.0	75.0	77.0					21																	28315829		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1275C>A	21.37:g.28315829G>T	ENSP00000284987:p.Phe425Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.F425L	ENST00000284987.5	37	c.1275	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013177	0.35511	.	.	ENSG00000154736	ENST00000284987	D	0.86164	-2.08	5.61	2.65	0.31530	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	N	0.01168	-0.975	0.46901	D	0.999244	P	0.51933	0.949	P	0.44732	0.459	T	0.66333	-0.5950	10	0.10377	T	0.69	.	11.6463	0.51263	0.2732:0.0:0.7268:0.0	.	425	Q9UNA0	ATS5_HUMAN	L	425	ENSP00000284987:F425L	ENSP00000284987:F425L	F	-	3	2	ADAMTS5	27237700	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.652000	0.54439	0.942000	0.37525	-0.141000	0.14075	TTC	ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154736		0.433	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	185	0.54	1	G			28315829	28315829	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	missense	129	32.46	62	SNP	1.000	T
ADAMTS6	11174	genome.wustl.edu	37	5	64558662	64558662	+	IGR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:64558662C>A								ADAMTS6 (64070 upstream) : ADAMTS6 (34372 downstream)																							GTCACAGTGTCTTAGGGATGA	0.527																																						dbGAP											0													41.0	35.0	37.0					5																	64558662		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															5.37:g.64558662C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R583I		37	c.1748		5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194117	0.78902	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.65364	-0.15;-0.15	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	H	0.99911	4.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94523	0.7729	10	0.87932	D	0	.	18.9191	0.92518	0.0:1.0:0.0:0.0	.	583;583	D6R9L6;Q9UKP5	.;ATS6_HUMAN	I	583;533;583	ENSP00000370443:R583I;ENSP00000423551:R583I	ENSP00000261306:R533I	R	-	2	0	ADAMTS6	64594418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.419000	0.80179	2.778000	0.95560	0.655000	0.94253	AGA	ADAMTS6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	ENSG00000049192	0	0.527					ADAMTS6	HGNC			193	0.00	0	C			64558662	64558662	-1	no_errors	ENST00000381055	ensembl	human	known	69_37n	missense	106	26.90	39	SNP	1.000	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18574313	18574313	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:18574313C>A	ENST00000380548.4	+	4	813				ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.L175I|ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000276935.6_Intron|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000380570.4_Intron	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1							proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTTCAATGTCTTTGTGTAAA	0.348																																						dbGAP											0													121.0	116.0	118.0					9																	18574313		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.474+49C>A	9.37:g.18574313C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L175I	ENST00000380548.4	37	c.523	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665677	0.29604	.	.	ENSG00000178031	ENST00000431052	T	0.74315	-0.83	5.25	-0.412	0.12367	.	.	.	.	.	T	0.56321	0.1977	.	.	.	0.19575	N	0.999964	.	.	.	.	.	.	T	0.44787	-0.9305	5	.	.	.	.	1.7571	0.02984	0.2397:0.3859:0.2175:0.1568	.	.	.	.	I	175	ENSP00000401157:L175I	.	L	+	1	0	ADAMTSL1	18564313	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.229000	0.09098	0.178000	0.19917	0.643000	0.83706	CTT	ADAMTSL1	-	NULL	ENSG00000178031		0.348	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	53	0.00	0	C			18574313	18574313	+1	no_errors	ENST00000431052	ensembl	human	putative	69_37n	missense	30	40.00	20	SNP	0.000	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84539559	84539559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:84539559G>T	ENST00000286744.5	+	9	1032	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E270*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	270						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTAGTTATTGAATCAAAAAC	0.328																																						dbGAP											0													28.0	31.0	30.0					15																	84539559		2200	4296	6496	-	-	-	SO:0001587	stop_gained	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.808G>T	15.37:g.84539559G>T	ENSP00000286744:p.Glu270*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E270*	ENST00000286744.5	37	c.808	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.430366	0.98279	.	.	ENSG00000156218	ENST00000286744	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.3709	0.83357	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000286744:E270X	E	+	1	0	ADAMTSL3	82330563	1.000000	0.71417	0.996000	0.52242	0.570000	0.35934	6.768000	0.74980	2.129000	0.65627	0.462000	0.41574	GAA	ADAMTSL3	-	NULL	ENSG00000156218		0.328	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	145	0.68	1	G	NM_207517		84539559	84539559	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	nonsense	81	12.90	12	SNP	1.000	T
ADAP2	55803	genome.wustl.edu	37	17	29283267	29283267	+	Silent	SNP	C	C	T	rs547065779		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:29283267C>T	ENST00000330889.3	+	10	1226	c.891C>T	c.(889-891)ttC>ttT	p.F297F	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Silent_p.F303F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	297	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.F297F(1)|p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGATGCCTTCGAGCAGGGCC	0.567																																						dbGAP											2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|central_nervous_system(1)											47.0	45.0	45.0					17																	29283267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.891C>T	17.37:g.29283267C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.S87L	ENST00000330889.3	37	c.260	CCDS11261.1	17																																																																																			ADAP2	-	pfscan_Pleckstrin_homology	ENSG00000184060		0.567	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	76	0.00	0	C	NM_018404		29283267	29283267	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000584828	ensembl	human	novel	69_37n	missense	46	35.21	25	SNP	1.000	T
ADAR	103	genome.wustl.edu	37	1	154557486	154557486	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154557486C>A	ENST00000368474.4	-	15	3676	c.3477G>T	c.(3475-3477)aaG>aaT	p.K1159N	ADAR_ENST00000292205.5_Missense_Mutation_p.K1202N|ADAR_ENST00000368471.3_Missense_Mutation_p.K864N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1159	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAAAAATGTTCTTTTTGGAGA	0.478																																						dbGAP											0													78.0	80.0	79.0					1																	154557486		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3477G>T	1.37:g.154557486C>A	ENSP00000357459:p.Lys1159Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.K1202N	ENST00000368474.4	37	c.3606	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863851	0.71949	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	4.76	4.76	0.60689	Adenosine deaminase/editase (3);	0.355286	0.33040	N	0.005345	D	0.93200	0.7834	L	0.32530	0.975	0.42241	D	0.991935	P;D;D	0.89917	0.929;0.963;1.0	P;P;D	0.87578	0.503;0.653;0.998	D	0.91171	0.4968	10	0.25751	T	0.34	-26.9339	18.3245	0.90248	0.0:1.0:0.0:0.0	.	1114;1133;1159	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	N	1202;1159;864;1128	ENSP00000292205:K1202N;ENSP00000357459:K1159N;ENSP00000357456:K864N;ENSP00000431794:K1128N	ENSP00000292205:K1202N	K	-	3	2	ADAR	152824110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.306000	0.65756	2.635000	0.89317	0.655000	0.94253	AAG	ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000160710		0.478	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	82	0.00	0	C	NM_001111		154557486	154557486	-1	no_errors	ENST00000292205	ensembl	human	known	69_37n	missense	66	10.81	8	SNP	1.000	A
ADARB2	105	genome.wustl.edu	37	10	1279754	1279754	+	Silent	SNP	G	G	A	rs267602405		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:1279754G>A	ENST00000381312.1	-	6	1720	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	465	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TTAACCGCACGAATATCGATC	0.527																																						dbGAP											0													136.0	116.0	123.0					10																	1279754		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1395C>T	10.37:g.1279754G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.F465	ENST00000381312.1	37	c.1395	CCDS7058.1	10																																																																																			ADARB2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000185736		0.527	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	326	0.00	0	G	NM_018702		1279754	1279754	-1	no_errors	ENST00000381312	ensembl	human	known	69_37n	silent	140	20.22	36	SNP	0.127	A
ADCY1	107	genome.wustl.edu	37	7	45748058	45748058	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:45748058G>A	ENST00000297323.7	+	18	2949	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	976					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTGTCCTCCGAGTTGGTATG	0.512																																						dbGAP											0													189.0	160.0	170.0					7																	45748058		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2927G>A	7.37:g.45748058G>A	ENSP00000297323:p.Arg976Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R976Q	ENST00000297323.7	37	c.2927	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766209	0.90020	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.87887	-2.31	5.34	5.34	0.76211	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95532	0.8548	H	0.95079	3.62	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.96442	0.9327	10	0.87932	D	0	.	16.5756	0.84635	0.0:0.0:1.0:0.0	.	976	Q08828	ADCY1_HUMAN	Q	976	ENSP00000297323:R976Q	ENSP00000297323:R976Q	R	+	2	0	ADCY1	45714583	1.000000	0.71417	0.989000	0.46669	0.479000	0.33129	9.036000	0.93758	2.780000	0.95670	0.609000	0.83330	CGA	ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000164742		0.512	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	136	0.00	0	G	NM_021116		45748058	45748058	+1	no_errors	ENST00000297323	ensembl	human	known	69_37n	missense	84	35.11	46	SNP	1.000	A
ADCY5	111	genome.wustl.edu	37	3	123010055	123010055	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:123010055C>T	ENST00000462833.1	-	18	4444	c.3232G>A	c.(3232-3234)Gcc>Acc	p.A1078T	ADCY5_ENST00000491190.1_Missense_Mutation_p.A736T|ADCY5_ENST00000309879.5_Missense_Mutation_p.A728T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1078	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGAAGTTGGCGATGGAGGCG	0.582																																						dbGAP											0													95.0	76.0	83.0					3																	123010055		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3232G>A	3.37:g.123010055C>T	ENSP00000419361:p.Ala1078Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A1078T	ENST00000462833.1	37	c.3232	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461442	0.43736	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.30182	1.54;1.54;1.54	4.53	3.58	0.41010	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.215135	0.37053	N	0.002277	T	0.10551	0.0258	N	0.02391	-0.57	0.32377	N	0.555011	B;B	0.22800	0.075;0.061	B;B	0.20184	0.028;0.027	T	0.06041	-1.0849	10	0.31617	T	0.26	.	5.0601	0.14553	0.3985:0.4904:0.0:0.111	.	1078;736	O95622;B3KWA8	ADCY5_HUMAN;.	T	1078;736;728	ENSP00000419361:A1078T;ENSP00000418537:A736T;ENSP00000308685:A728T	ENSP00000308685:A728T	A	-	1	0	ADCY5	124492745	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.451000	0.44952	2.362000	0.80069	0.563000	0.77884	GCC	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000173175		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	49	0.00	0	C	XM_171048		123010055	123010055	-1	no_errors	ENST00000462833	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	T
ADCY9	115	genome.wustl.edu	37	16	4163814	4163814	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:4163814C>T	ENST00000294016.3	-	2	2168	c.1630G>A	c.(1630-1632)Gaa>Aaa	p.E544K		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	544					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.E544K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTCCATTTCGTACCGGTCA	0.532																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											127.0	119.0	122.0					16																	4163814		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1630G>A	16.37:g.4163814C>T	ENSP00000294016:p.Glu544Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E544K	ENST00000294016.3	37	c.1630	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809171	0.31961	.	.	ENSG00000162104	ENST00000294016	D	0.81499	-1.5	5.19	5.19	0.71726	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.232436	0.37906	N	0.001895	T	0.71668	0.3367	L	0.43554	1.36	0.36295	D	0.856676	B	0.06786	0.001	B	0.06405	0.002	T	0.68375	-0.5425	10	0.10377	T	0.69	.	13.6882	0.62529	0.1544:0.8455:0.0:0.0	.	544	O60503	ADCY9_HUMAN	K	544	ENSP00000294016:E544K	ENSP00000294016:E544K	E	-	1	0	ADCY9	4103815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.134000	0.42102	2.438000	0.82558	0.555000	0.69702	GAA	ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000162104		0.532	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	44	0.00	0	C			4163814	4163814	-1	no_errors	ENST00000294016	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
ADD2	119	genome.wustl.edu	37	2	70917985	70917985	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:70917985A>C	ENST00000264436.4	-	8	1226	c.782T>G	c.(781-783)tTc>tGc	p.F261C	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.F261C|ADD2_ENST00000430656.1_Missense_Mutation_p.F277C|ADD2_ENST00000407644.2_Missense_Mutation_p.F261C|ADD2_ENST00000355733.3_Missense_Mutation_p.F261C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	261					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTCCCCATTGAAGTCATAATA	0.532																																						dbGAP											0													99.0	86.0	90.0					2																	70917985		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.782T>G	2.37:g.70917985A>C	ENSP00000264436:p.Phe261Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.F261C	ENST00000264436.4	37	c.782	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115091	0.77210	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.43	5.43	0.79202	Class II aldolase/adducin, N-terminal (3);	0.055968	0.64402	D	0.000001	T	0.45034	0.1322	M	0.70595	2.14	0.43835	D	0.996416	D;B;B;D	0.69078	0.996;0.214;0.367;0.997	D;B;B;P	0.64506	0.926;0.086;0.216;0.891	T	0.45775	-0.9238	10	0.87932	D	0	-25.7601	8.7518	0.34620	0.8318:0.0:0.0:0.1682	.	277;261;261;261	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	C	261;261;261;261;261;261;277	ENSP00000264436:F261C;ENSP00000384677:F261C;ENSP00000347972:F261C;ENSP00000388072:F261C;ENSP00000398112:F277C	ENSP00000264436:F261C	F	-	2	0	ADD2	70771493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.425000	0.66470	2.277000	0.76020	0.528000	0.53228	TTC	ADD2	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000075340		0.532	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	130	0.00	0	A	NM_001617		70917985	70917985	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	missense	61	28.74	25	SNP	1.000	C
ADD2	119	genome.wustl.edu	37	2	70918057	70918057	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:70918057G>A	ENST00000264436.4	-	8	1154	c.710C>T	c.(709-711)tCg>tTg	p.S237L	AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000413157.2_Missense_Mutation_p.S237L|ADD2_ENST00000430656.1_Missense_Mutation_p.S253L|ADD2_ENST00000407644.2_Missense_Mutation_p.S237L|ADD2_ENST00000355733.3_Missense_Mutation_p.S237L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	237					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.S237L(2)|p.S253L(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTTCATGGCCGACACCTTAGA	0.587																																						dbGAP											3	Substitution - Missense(3)	endometrium(3)											69.0	58.0	62.0					2																	70918057		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.710C>T	2.37:g.70918057G>A	ENSP00000264436:p.Ser237Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.S237L	ENST00000264436.4	37	c.710	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.214654	0.95104	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.13	5.13	0.70059	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.993;0.992;0.998;0.993	T	0.82285	-0.0533	10	0.87932	D	0	-8.9103	16.4661	0.84079	0.0:0.0:1.0:0.0	.	253;237;237;237	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	L	237;237;237;237;237;237;253	ENSP00000264436:S237L;ENSP00000384677:S237L;ENSP00000347972:S237L;ENSP00000388072:S237L;ENSP00000398112:S253L	ENSP00000264436:S237L	S	-	2	0	ADD2	70771565	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.480000	0.97931	2.823000	0.97156	0.650000	0.86243	TCG	ADD2	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000075340		0.587	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	95	0.00	0	G	NM_001617		70918057	70918057	-1	no_errors	ENST00000264436	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	1.000	A
ADGB	79747	genome.wustl.edu	37	6	147061658	147061658	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:147061658T>G	ENST00000397944.3	+	24	3028	c.2952T>G	c.(2950-2952)acT>acG	p.T984T	ADGB_ENST00000367493.3_Silent_p.T403T	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	984					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						ATGAAGAAACTAAGATTGCTT	0.303																																						dbGAP											0													179.0	156.0	163.0					6																	147061658		692	1589	2281	-	-	-	SO:0001819	synonymous_variant	0			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.2952T>G	6.37:g.147061658T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	superfamily_Globin-like,pfscan_IQ_motif_EF-hand-BS	p.L404R	ENST00000397944.3	37	c.1211		6																																																																																			ADGB	-	NULL	ENSG00000118492		0.303	ADGB-009	KNOWN	basic|appris_principal	protein_coding	ADGB	HGNC	protein_coding	OTTHUMT00000376350.2	266	0.00	0	T	NM_024694		147061658	147061658	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000480328	ensembl	human	known	69_37n	missense	161	10.56	19	SNP	0.580	G
ADH6	130	genome.wustl.edu	37	4	100129814	100129814	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:100129814G>T	ENST00000237653.7	-	6	1213				RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000394899.2_Intron|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)						ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TCACTCCAGAGGATTACATAC	0.348																																						dbGAP											0													106.0	114.0	111.0					4																	100129814		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.828+10C>A	4.37:g.100129814G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS45|Q58F53	RNA	SNP	-	NULL	ENST00000237653.7	37	NULL	CCDS3647.1	4																																																																																			ADH6	-	-	ENSG00000172955		0.348	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	152	0.65	1	G	NM_000672		100129814	100129814	-1	no_errors	ENST00000504257	ensembl	human	putative	69_37n	rna	93	26.77	34	SNP	0.000	T
ADHFE1	137872	genome.wustl.edu	37	8	67356908	67356908	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:67356908C>T	ENST00000396623.3	+	5	309	c.278C>T	c.(277-279)gCt>gTt	p.A93V	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.A93V|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A45V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	93					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTGCAAGTAGCTATGGATTCC	0.403																																						dbGAP											0													259.0	245.0	250.0					8																	67356908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.278C>T	8.37:g.67356908C>T	ENSP00000379865:p.Ala93Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.A93V	ENST00000396623.3	37	c.278	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006438	0.19199	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.66	1.95	0.26073	Alcohol dehydrogenase, iron-type (1);	0.168094	0.52532	N	0.000079	T	0.13030	0.0316	N	0.03224	-0.385	0.37816	D	0.928212	B	0.02656	0.0	B	0.12837	0.008	T	0.25082	-1.0142	10	0.06365	T	0.9	-2.4352	9.0943	0.36629	0.0:0.2159:0.0:0.7841	.	93	Q8IWW8	HOT_HUMAN	V	28;93;93;45	ENSP00000428055:A28V;ENSP00000368695:A93V;ENSP00000379865:A93V;ENSP00000407115:A45V	ENSP00000368695:A93V	A	+	2	0	ADHFE1	67519462	1.000000	0.71417	0.400000	0.26346	0.988000	0.76386	4.205000	0.58466	0.093000	0.17368	-0.302000	0.09304	GCT	ADHFE1	-	pfam_ADH_Fe	ENSG00000147576		0.403	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3	566	0.00	0	C	NM_144650		67356908	67356908	+1	no_errors	ENST00000396623	ensembl	human	known	69_37n	missense	297	18.18	66	SNP	0.969	T
ADNP	23394	genome.wustl.edu	37	20	49509888	49509888	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:49509888G>T	ENST00000396029.3	-	5	1930	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	ADNP_ENST00000396032.3_Missense_Mutation_p.L455I|ADNP_ENST00000349014.3_Missense_Mutation_p.L455I|ADNP_ENST00000371602.4_Missense_Mutation_p.L455I	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	455					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCAGGAAAAAGCTCATTACAG	0.418																																						dbGAP											0													140.0	145.0	143.0					20																	49509888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1363C>A	20.37:g.49509888G>T	ENSP00000379346:p.Leu455Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L455I	ENST00000396029.3	37	c.1363	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403663	0.62288	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	6.01	0.97437	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	L	0.52905	1.665	0.50313	D	0.999861	D	0.76494	0.999	D	0.79784	0.993	T	0.69476	-0.5135	9	0.49607	T	0.09	-6.4092	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	455	Q9H2P0	ADNP_HUMAN	I	455	.	ENSP00000342905:L455I	L	-	1	0	ADNP	48943295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.477000	0.66799	2.861000	0.98227	0.650000	0.86243	CTT	ADNP	-	smart_Znf_C2H2-like	ENSG00000101126		0.418	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	115	0.00	0	G	NM_181442		49509888	49509888	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	missense	83	10.75	10	SNP	1.000	T
ADNP	23394	genome.wustl.edu	37	20	49510275	49510275	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:49510275G>T	ENST00000396029.3	-	5	1543	c.976C>A	c.(976-978)Cat>Aat	p.H326N	ADNP_ENST00000396032.3_Missense_Mutation_p.H326N|ADNP_ENST00000349014.3_Missense_Mutation_p.H326N|ADNP_ENST00000371602.4_Missense_Mutation_p.H326N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	326					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGCTGCAGATGAACACTGGAC	0.458																																						dbGAP											0													142.0	126.0	131.0					20																	49510275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.976C>A	20.37:g.49510275G>T	ENSP00000379346:p.His326Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.H326N	ENST00000396029.3	37	c.976	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246567	0.22796	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.58810	1.83	0.54753	D	0.999987	D	0.53312	0.959	D	0.68192	0.956	T	0.66767	-0.5840	9	0.15499	T	0.54	-9.7251	20.2963	0.98556	0.0:0.0:1.0:0.0	.	326	Q9H2P0	ADNP_HUMAN	N	326	.	ENSP00000342905:H326N	H	-	1	0	ADNP	48943682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.828000	0.86729	2.813000	0.96785	0.655000	0.94253	CAT	ADNP	-	NULL	ENSG00000101126		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	190	0.00	0	G	NM_181442		49510275	49510275	-1	no_errors	ENST00000349014	ensembl	human	known	69_37n	missense	172	11.34	22	SNP	1.000	T
ADNP2	22850	genome.wustl.edu	37	18	77893626	77893626	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:77893626C>T	ENST00000262198.4	+	4	785	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	110					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTGCCCAAACTGTGTATTTG	0.418																																						dbGAP											0													153.0	132.0	139.0					18																	77893626		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.330C>T	18.37:g.77893626C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K951|O94943|Q9H9P3	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.N110	ENST00000262198.4	37	c.330	CCDS32853.1	18																																																																																			ADNP2	-	smart_Znf_C2H2-like	ENSG00000101544		0.418	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	166	0.00	0	C	NM_014913		77893626	77893626	+1	no_errors	ENST00000262198	ensembl	human	known	69_37n	silent	146	19.78	36	SNP	1.000	T
ADPGK	83440	genome.wustl.edu	37	15	73044753	73044753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:73044753G>A	ENST00000311669.8	-	7	1513	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	ADPGK_ENST00000456471.2_Nonsense_Mutation_p.R200*	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	475	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CCTACAGTTCGAATGGGGTCT	0.448																																						dbGAP											0													75.0	74.0	74.0					15																	73044753		1901	4110	6011	-	-	-	SO:0001587	stop_gained	0			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1420C>T	15.37:g.73044753G>A	ENSP00000312250:p.Arg474*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Nonsense_Mutation	SNP	pfam_ADP_PFK/GK	p.R474*	ENST00000311669.8	37	c.1420	CCDS42057.1	15	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941663	0.92526	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0779	20.139	0.98050	0.0:0.0:1.0:0.0	.	.	.	.	X	474;394;200	.	ENSP00000312250:R474X	R	-	1	2	ADPGK	70831806	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	4.419000	0.59835	2.764000	0.94973	0.655000	0.94253	CGA	ADPGK	-	pfam_ADP_PFK/GK	ENSG00000159322		0.448	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK	HGNC	protein_coding	OTTHUMT00000420434.1	116	0.00	0	G	NM_031284		73044753	73044753	-1	no_errors	ENST00000311669	ensembl	human	known	69_37n	nonsense	62	13.89	10	SNP	0.996	A
ADSS	159	genome.wustl.edu	37	1	244587324	244587324	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:244587324G>A	ENST00000366535.3	-	6	828	c.512C>T	c.(511-513)tCg>tTg	p.S171L	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			AGCTTTGGACGAATAAACTGG	0.423																																						dbGAP											0													67.0	64.0	65.0					1																	244587324		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.512C>T	1.37:g.244587324G>A	ENSP00000355493:p.Ser171Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.S171L	ENST00000366535.3	37	c.512	CCDS1624.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659484	0.88154	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.43688	0.94	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.77013	-0.2745	10	0.66056	D	0.02	-17.4499	18.5791	0.91165	0.0:0.0:1.0:0.0	.	171	P30520	PURA2_HUMAN	L	171;150	ENSP00000355493:S171L	ENSP00000355493:S171L	S	-	2	0	ADSS	242653947	1.000000	0.71417	0.998000	0.56505	0.569000	0.35902	9.624000	0.98398	2.393000	0.81446	0.467000	0.42956	TCG	ADSS	-	pfam_Adenylosuccinate_synthetase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	ENSG00000035687		0.423	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	HGNC	protein_coding	OTTHUMT00000096697.1	278	0.00	0	G	NM_001126		244587324	244587324	-1	no_errors	ENST00000366535	ensembl	human	known	69_37n	missense	307	17.25	64	SNP	1.000	A
ADTRP	84830	genome.wustl.edu	37	6	11714657	11714657	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:11714657G>T	ENST00000414691.3	-	0	1157				ADTRP_ENST00000229583.5_3'UTR|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AAAAAAAGATGAGAAAAATCT	0.398																																						dbGAP											0													115.0	103.0	107.0					6																	11714657		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.*54C>A	6.37:g.11714657G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7T9|B4DV39|Q5THW1	RNA	SNP	-	NULL	ENST00000414691.3	37	NULL	CCDS4521.1	6																																																																																			ADTRP	-	-	ENSG00000111863		0.398	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	441	0.00	0	G	NM_032744		11714657	11714657	-1	no_errors	ENST00000512139	ensembl	human	known	69_37n	rna	233	18.03	53	SNP	0.000	T
AEBP2	121536	genome.wustl.edu	37	12	19615448	19615448	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:19615448A>G	ENST00000398864.3	+	2	702	c.676A>G	c.(676-678)Agc>Ggc	p.S226G	AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10G|AEBP2_ENST00000266508.9_Missense_Mutation_p.S226G	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	226	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TTGTAGCATAAGCAGTACTAT	0.333																																						dbGAP											0													48.0	42.0	44.0					12																	19615448		1860	4101	5961	-	-	-	SO:0001583	missense	0				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.676A>G	12.37:g.19615448A>G	ENSP00000381840:p.Ser226Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S226G	ENST00000398864.3	37	c.676	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375057	0.42105	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.92149	-2.98;-2.98;-0.32	5.28	5.28	0.74379	.	.	.	.	.	D	0.86615	0.5975	L	0.27053	0.805	0.47065	D	0.999305	B	0.18610	0.029	B	0.17433	0.018	T	0.82216	-0.0567	9	0.25751	T	0.34	-1.7625	15.3844	0.74684	1.0:0.0:0.0:0.0	.	226	Q6ZN18	AEBP2_HUMAN	G	226;160;226;10	ENSP00000381840:S226G;ENSP00000266508:S226G;ENSP00000354267:S10G	ENSP00000266508:S226G	S	+	1	0	AEBP2	19506715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.698000	0.68302	2.210000	0.71456	0.533000	0.62120	AGC	AEBP2	-	NULL	ENSG00000139154		0.333	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	154	0.00	0	A	NM_153207		19615448	19615448	+1	no_errors	ENST00000398864	ensembl	human	known	69_37n	missense	117	27.78	45	SNP	1.000	G
AEBP2	121536	genome.wustl.edu	37	12	19615601	19615601	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:19615601G>A	ENST00000398864.3	+	2	855	c.829G>A	c.(829-831)Gat>Aat	p.D277N	AEBP2_ENST00000541908.1_Missense_Mutation_p.D48N|AEBP2_ENST00000360995.4_Missense_Mutation_p.D61N|AEBP2_ENST00000266508.9_Missense_Mutation_p.D277N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	277	Interaction with RBBP4.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CTCTAGCCCAGATCTGGCAGA	0.428																																						dbGAP											0													135.0	128.0	130.0					12																	19615601		1946	4139	6085	-	-	-	SO:0001583	missense	0				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.829G>A	12.37:g.19615601G>A	ENSP00000381840:p.Asp277Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D277N	ENST00000398864.3	37	c.829	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.268880	0.95429	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	D	0.94984	0.8377	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94314	0.7548	9	0.56958	D	0.05	-13.3673	19.9142	0.97043	0.0:0.0:1.0:0.0	.	277	Q6ZN18	AEBP2_HUMAN	N	48;48;277;211;277;61	ENSP00000444255:D48N;ENSP00000437983:D48N;ENSP00000381840:D277N;ENSP00000266508:D277N;ENSP00000354267:D61N	ENSP00000266508:D277N	D	+	1	0	AEBP2	19506868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GAT	AEBP2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000139154		0.428	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	484	0.00	0	G	NM_153207		19615601	19615601	+1	no_errors	ENST00000398864	ensembl	human	known	69_37n	missense	438	12.22	61	SNP	1.000	A
AFAP1L2	84632	genome.wustl.edu	37	10	116100470	116100470	+	Nonsense_Mutation	SNP	C	C	A	rs201870637		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:116100470C>A	ENST00000304129.4	-	2	66	c.37G>T	c.(37-39)Gag>Tag	p.E13*	AFAP1L2_ENST00000369271.3_Nonsense_Mutation_p.E13*|AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E13*			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	13				E -> K (in Ref. 4; BAF84401). {ECO:0000305}.	inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		TCATCCAACTCTGTCAGCAGC	0.552																																						dbGAP											0													79.0	78.0	78.0					10																	116100470		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.37G>T	10.37:g.116100470C>A	ENSP00000303042:p.Glu13*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E13*	ENST00000304129.4	37	c.37	CCDS31286.1	10	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779207	0.90195	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.2536	15.5913	0.76530	0.0:1.0:0.0:0.0	.	.	.	.	X	13;13;12;31;13;31	.	ENSP00000303042:E13X	E	-	1	0	AFAP1L2	116090460	0.999000	0.42202	0.965000	0.40720	0.871000	0.50021	5.223000	0.65283	2.469000	0.83416	0.655000	0.94253	GAG	AFAP1L2	-	NULL	ENSG00000169129		0.552	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1	161	0.00	0	C	NM_032550		116100470	116100470	-1	no_errors	ENST00000545353	ensembl	human	known	69_37n	nonsense	99	28.78	40	SNP	0.990	A
AFF2	2334	genome.wustl.edu	37	X	147733533	147733533	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:147733533G>T	ENST00000370460.2	+	2	540	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	AFF2_ENST00000342251.3_Missense_Mutation_p.D21Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D21Y|AFF2_ENST00000370458.1_Missense_Mutation_p.D21Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	21					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)					CTATGAACAAGACCGTAGTGC	0.363																																						dbGAP											0													157.0	152.0	154.0					X																	147733533		2203	4299	6502	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.61G>T	X.37:g.147733533G>T	ENSP00000359489:p.Asp21Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.D21Y	ENST00000370460.2	37	c.61	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513516	0.85389	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.62	5.62	0.85841	.	0.136884	0.45126	D	0.000388	D	0.86406	0.5925	L	0.56280	1.765	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.98;0.98;0.98;0.977;0.987;0.999	D	0.87473	0.2415	10	0.87932	D	0	.	18.6599	0.91469	0.0:0.0:1.0:0.0	.	21;21;21;21;21;21	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	Y	21	ENSP00000359489:D21Y;ENSP00000359486:D21Y;ENSP00000345459:D21Y;ENSP00000359487:D21Y	ENSP00000345459:D21Y	D	+	1	0	AFF2	147541225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.188000	0.94921	2.350000	0.79820	0.594000	0.82650	GAC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.363	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	534	0.00	0	G	NM_002025		147733533	147733533	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	358	12.04	49	SNP	1.000	T
AFF2	2334	genome.wustl.edu	37	X	148059971	148059971	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:148059971A>G	ENST00000370460.2	+	18	4035	c.3556A>G	c.(3556-3558)Atg>Gtg	p.M1186V	AFF2_ENST00000342251.3_Missense_Mutation_p.M1153V|AFF2_ENST00000370457.5_Missense_Mutation_p.M1151V|AFF2_ENST00000286437.5_Missense_Mutation_p.M827V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1186					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)					CAGATCACTGATGGAATATTT	0.363																																						dbGAP											0													167.0	153.0	158.0					X																	148059971		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3556A>G	X.37:g.148059971A>G	ENSP00000359489:p.Met1186Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.M1186V	ENST00000370460.2	37	c.3556	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	A	17.78	3.472382	0.63737	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	M	0.63428	1.95	0.45634	D	0.998569	B;P;P;D;D;D	0.58620	0.066;0.773;0.676;0.979;0.979;0.983	B;P;P;P;P;P	0.60415	0.092;0.802;0.502;0.801;0.801;0.874	T	0.73193	-0.4060	10	0.38643	T	0.18	.	15.3637	0.74503	1.0:0.0:0.0:0.0	.	827;1151;1151;1147;1176;1186	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1186;1151;1153;827	ENSP00000359489:M1186V;ENSP00000359486:M1151V;ENSP00000345459:M1153V;ENSP00000286437:M827V	ENSP00000286437:M827V	M	+	1	0	AFF2	147867655	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.028000	0.57246	2.012000	0.59069	0.441000	0.28932	ATG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.363	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	411	0.00	0	A	NM_002025		148059971	148059971	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	294	10.64	35	SNP	1.000	G
AFF4	27125	genome.wustl.edu	37	5	132227941	132227941	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:132227941G>A	ENST00000265343.5	-	13	2931	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	AFF4_ENST00000378595.3_Missense_Mutation_p.T851M	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	851	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGCCACTCGTCTCCTTGTT	0.468																																					Ovarian(126;889 1733 2942 10745 11605)	dbGAP											0													170.0	160.0	163.0					5																	132227941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2552C>T	5.37:g.132227941G>A	ENSP00000265343:p.Thr851Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.T851M	ENST00000265343.5	37	c.2552	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	G	6.190	0.403217	0.11754	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.64260	-0.09;-0.09	4.22	0.628	0.17681	.	0.439705	0.27500	N	0.019098	T	0.39036	0.1063	N	0.19112	0.55	0.21604	N	0.999626	P;P	0.41041	0.69;0.736	B;B	0.38655	0.121;0.278	T	0.26916	-1.0089	10	0.49607	T	0.09	-10.7123	3.9979	0.09566	0.0:0.3559:0.2137:0.4304	.	851;851	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	M	851	ENSP00000265343:T851M;ENSP00000367858:T851M	ENSP00000265343:T851M	T	-	2	0	AFF4	132255840	1.000000	0.71417	0.155000	0.22561	0.120000	0.20174	3.571000	0.53841	0.103000	0.17682	-0.457000	0.05445	ACG	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.468	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	182	0.00	0	G	NM_014423		132227941	132227941	-1	no_errors	ENST00000265343	ensembl	human	known	69_37n	missense	146	28.50	59	SNP	0.562	A
AGAP1	116987	genome.wustl.edu	37	2	236659077	236659077	+	Silent	SNP	G	G	T	rs139143512	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:236659077G>T	ENST00000304032.8	+	6	1198	c.618G>T	c.(616-618)acG>acT	p.T206T	AGAP1_ENST00000409538.1_Silent_p.T471T|AGAP1_ENST00000336665.5_Silent_p.T206T|AGAP1_ENST00000409457.1_Silent_p.T206T|AGAP1_ENST00000428334.2_Silent_p.T45T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	206	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.T206T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACGGTGCACGTACTACGAGA	0.522																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											260.0	210.0	227.0					2																	236659077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.618G>T	2.37:g.236659077G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.T206	ENST00000304032.8	37	c.618	CCDS33408.1	2																																																																																			AGAP1	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000157985		0.522	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	165	0.00	0	G	NM_014914		236659077	236659077	+1	no_errors	ENST00000304032	ensembl	human	known	69_37n	silent	90	34.78	48	SNP	0.015	T
AGAP7P	653268	genome.wustl.edu	37	10	51472612	51472612	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:51472612G>A	ENST00000374095.5	-	4	493	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		123					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GAATATTGTCGAACACAAGCT	0.373																																						dbGAP											0													36.0	30.0	32.0					10																	51472612		1941	3618	5559	-	-	-	SO:0001583	missense	0																														ENST00000374095.5:c.368C>T	10.37:g.51472612G>A	ENSP00000363208:p.Ser123Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S123L	ENST00000374095.5	37	c.368	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	1.649	-0.514504	0.04200	.	.	ENSG00000204169	ENST00000374095	T	0.49720	0.77	0.861	-1.72	0.08107	.	0.194233	0.43260	N	0.000598	T	0.32315	0.0825	L	0.48218	1.51	0.19575	N	0.999961	B	0.02656	0.0	B	0.01281	0.0	T	0.13818	-1.0495	10	0.30078	T	0.28	.	6.3337	0.21285	0.2683:0.0:0.7317:0.0	.	123	Q5VUJ5	AGAP7_HUMAN	L	123	ENSP00000363208:S123L	ENSP00000363208:S123L	S	-	2	0	AGAP7	51142618	1.000000	0.71417	0.090000	0.20809	0.001000	0.01503	1.368000	0.34216	-0.654000	0.05394	-2.942000	0.00086	TCG	AGAP7	-	NULL	ENSG00000204169		0.373	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	91	0.00	0	G			51472612	51472612	-1	no_errors	ENST00000374095	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	0.967	A
AGBL1	123624	genome.wustl.edu	37	15	87099511	87099511	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:87099511C>T	ENST00000441037.2	+	21	3009	c.2914C>T	c.(2914-2916)Ctt>Ttt	p.L972F	AGBL1_ENST00000389298.3_Missense_Mutation_p.L703F|AGBL1_ENST00000421325.2_Missense_Mutation_p.L972F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	972					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTGGATGGCCTTCAGGTATT	0.468																																						dbGAP											0													92.0	91.0	91.0					15																	87099511		1873	4114	5987	-	-	-	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2914C>T	15.37:g.87099511C>T	ENSP00000413001:p.Leu972Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.L972F	ENST00000441037.2	37	c.2914	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	C	3.875	-0.027037	0.07589	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.10668	2.86;2.85	3.77	2.66	0.31614	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45411	-0.9263	9	0.09590	T	0.72	.	5.3906	0.16242	0.0:0.1315:0.0:0.8685	.	972	Q96MI9	CBPC4_HUMAN	F	972;703	ENSP00000397173:L972F;ENSP00000373949:L703F	ENSP00000373949:L703F	L	+	1	0	AGBL1	84900515	0.007000	0.16637	0.091000	0.20842	0.002000	0.02628	0.210000	0.17455	0.810000	0.34279	-0.312000	0.09012	CTT	AGBL1	-	NULL	ENSG00000166748		0.468	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	388	0.00	0	C	NM_152336		87099511	87099511	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	missense	219	24.22	70	SNP	0.131	T
AGBL3	340351	genome.wustl.edu	37	7	134719084	134719084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:134719084G>T	ENST00000436302.2	+	7	995	c.742G>T	c.(742-744)Gag>Tag	p.E248*	AGBL3_ENST00000458078.1_Nonsense_Mutation_p.E222*|AGBL3_ENST00000435976.2_Nonsense_Mutation_p.E248*	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	248						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						TTCTGAAAAAGAGGCCAAGGC	0.453																																						dbGAP											0													87.0	69.0	75.0					7																	134719084		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.742G>T	7.37:g.134719084G>T	ENSP00000388275:p.Glu248*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z827|Q9H965	Nonsense_Mutation	SNP	pfam_Peptidase_M14	p.E222*	ENST00000436302.2	37	c.664	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	G	40	7.932527	0.98568	.	.	ENSG00000146856	ENST00000436302;ENST00000458078;ENST00000435976	.	.	.	5.28	5.28	0.74379	.	0.240719	0.41712	D	0.000829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-9.3449	18.491	0.90848	0.0:0.0:1.0:0.0	.	.	.	.	X	248;222;248	.	ENSP00000275763:E248X	E	+	1	0	AGBL3	134369624	1.000000	0.71417	0.912000	0.35992	0.960000	0.62799	5.237000	0.65360	2.446000	0.82766	0.557000	0.71058	GAG	AGBL3	-	NULL	ENSG00000146856		0.453	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	107	0.00	0	G	NM_178563		134719084	134719084	+1	no_errors	ENST00000458078	ensembl	human	known	69_37n	nonsense	75	15.73	14	SNP	1.000	T
AGBL5	60509	genome.wustl.edu	37	2	27277556	27277556	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27277556C>T	ENST00000360131.4	+	5	769	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R204C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	204					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATGGACTTCGTGTAGATCT	0.498																																						dbGAP											0													142.0	138.0	140.0					2																	27277556		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.610C>T	2.37:g.27277556C>T	ENSP00000353249:p.Arg204Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.R204C	ENST00000360131.4	37	c.610	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478460	0.84747	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.17691	2.29;2.26	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.52931	-0.8509	10	0.62326	D	0.03	-7.1423	20.2585	0.98435	0.0:1.0:0.0:0.0	.	204;204;204	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	C	204	ENSP00000323681:R204C;ENSP00000353249:R204C	ENSP00000323681:R204C	R	+	1	0	AGBL5	27131060	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.640000	0.54350	2.894000	0.99253	0.655000	0.94253	CGT	AGBL5	-	NULL	ENSG00000084693		0.498	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	158	0.00	0	C	NM_021831		27277556	27277556	+1	no_errors	ENST00000360131	ensembl	human	known	69_37n	missense	126	11.89	17	SNP	1.000	T
AGBL5	60509	genome.wustl.edu	37	2	27277999	27277999	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27277999C>A	ENST00000360131.4	+	6	945	c.786C>A	c.(784-786)ttC>ttA	p.F262L	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.F262L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	262					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTGTCTTCAATGGCTTTC	0.502																																						dbGAP											0													140.0	138.0	139.0					2																	27277999		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.786C>A	2.37:g.27277999C>A	ENSP00000353249:p.Phe262Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.F262L	ENST00000360131.4	37	c.786	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597785	0.66332	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.07688	3.17;3.17	6.11	6.11	0.99139	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.15609	0.0376	L	0.28400	0.85	0.47476	D	0.999435	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.996;0.997;0.997	T	0.10405	-1.0631	10	0.19147	T	0.46	-14.5812	11.0148	0.47682	0.0:0.8615:0.0:0.1385	.	262;262;262	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	L	262	ENSP00000323681:F262L;ENSP00000353249:F262L	ENSP00000323681:F262L	F	+	3	2	AGBL5	27131503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.406000	0.44557	2.906000	0.99361	0.655000	0.94253	TTC	AGBL5	-	pfam_Peptidase_M14	ENSG00000084693		0.502	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	138	0.00	0	C	NM_021831		27277999	27277999	+1	no_errors	ENST00000360131	ensembl	human	known	69_37n	missense	98	18.18	22	SNP	1.000	A
AGK	55750	genome.wustl.edu	37	7	141255292	141255292	+	Missense_Mutation	SNP	G	G	A	rs577821330	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:141255292G>A	ENST00000355413.4	+	2	286	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	AGK_ENST00000492693.1_Missense_Mutation_p.R9Q|AGK_ENST00000473247.1_5'UTR|AGK_ENST00000535825.1_Missense_Mutation_p.R9Q|AGK_ENST00000495028.1_3'UTR	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	9					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAAACGCTTCGAAATCACTGG	0.438													G|||	10	0.00199681	0.0	0.0	5008	,	,		18636	0.0		0.0	False		,,,				2504	0.0102					dbGAP											0													79.0	78.0	78.0					7																	141255292		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.26G>A	7.37:g.141255292G>A	ENSP00000347581:p.Arg9Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.R9Q	ENST00000355413.4	37	c.26	CCDS5865.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247500	0.80024	.	.	ENSG00000006530	ENST00000355413;ENST00000424238;ENST00000535825;ENST00000492693	T;T;T	0.75589	0.86;0.82;-0.95	5.3	4.42	0.53409	.	0.057835	0.64402	D	0.000003	T	0.79690	0.4489	M	0.77103	2.36	0.49051	D	0.99974	P	0.52316	0.952	P	0.49387	0.609	T	0.82390	-0.0481	10	0.72032	D	0.01	.	13.0765	0.59089	0.0792:0.0:0.9208:0.0	.	9	Q53H12	AGK_HUMAN	Q	9	ENSP00000347581:R9Q;ENSP00000444349:R9Q;ENSP00000418789:R9Q	ENSP00000347581:R9Q	R	+	2	0	AGK	140901761	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.945000	0.56637	1.235000	0.43724	0.650000	0.86243	CGA	AGK	-	NULL	ENSG00000006530		0.438	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	HGNC	protein_coding	OTTHUMT00000348969.1	221	0.89	2	G	NM_018238		141255292	141255292	+1	no_errors	ENST00000355413	ensembl	human	known	69_37n	missense	156	10.86	19	SNP	1.000	A
AGK	55750	genome.wustl.edu	37	7	141336802	141336802	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:141336802T>G	ENST00000355413.4	+	11	971	c.711T>G	c.(709-711)ttT>ttG	p.F237L	AGK_ENST00000473247.1_Missense_Mutation_p.F209L|AGK_ENST00000535825.1_Missense_Mutation_p.F234L	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	237					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CAGCCCACTTTTTCAGCACTC	0.308																																						dbGAP											0													125.0	116.0	119.0					7																	141336802		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.711T>G	7.37:g.141336802T>G	ENSP00000347581:p.Phe237Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.F237L	ENST00000355413.4	37	c.711	CCDS5865.1	7	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634034	0.29068	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.36699	2.69;2.69;1.24	4.8	-0.259	0.12971	.	0.177584	0.53938	D	0.000056	T	0.18964	0.0455	L	0.33189	0.99	0.40776	D	0.983134	B	0.06786	0.001	B	0.06405	0.002	T	0.31971	-0.9924	10	0.02654	T	1	.	8.2981	0.31997	0.0:0.5238:0.0:0.4762	.	237	Q53H12	AGK_HUMAN	L	237;209;234	ENSP00000347581:F237L;ENSP00000420776:F209L;ENSP00000444349:F234L	ENSP00000347581:F237L	F	+	3	2	AGK	140983271	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.225000	0.17757	0.002000	0.14630	0.528000	0.53228	TTT	AGK	-	NULL	ENSG00000006530		0.308	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGK	HGNC	protein_coding	OTTHUMT00000348969.1	559	0.00	0	T	NM_018238		141336802	141336802	+1	no_errors	ENST00000355413	ensembl	human	known	69_37n	missense	373	24.60	122	SNP	0.998	G
AGL	178	genome.wustl.edu	37	1	100327048	100327048	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:100327048T>G	ENST00000294724.4	+	3	560				AGL_ENST00000361915.3_Intron|AGL_ENST00000361302.3_Intron|AGL_ENST00000361522.4_Silent_p.A7A|AGL_ENST00000370163.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000370161.2_Intron	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAACATGTGCTTTTTATTTAG	0.308																																						dbGAP											0													48.0	50.0	49.0					1																	100327048		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.83-11T>G	1.37:g.100327048T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.A7	ENST00000294724.4	37	c.21	CCDS759.1	1																																																																																			AGL	-	NULL	ENSG00000162688		0.308	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	68	0.00	0	T	NM_000028		100327048	100327048	+1	no_errors	ENST00000361522	ensembl	human	known	69_37n	silent	54	21.74	15	SNP	0.048	G
AGL	178	genome.wustl.edu	37	1	100340971	100340971	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:100340971A>C	ENST00000294724.4	+	10	1721	c.1243A>C	c.(1243-1245)Aaa>Caa	p.K415Q	AGL_ENST00000361915.3_Missense_Mutation_p.K415Q|AGL_ENST00000361302.3_Missense_Mutation_p.K399Q|AGL_ENST00000477753.1_3'UTR|AGL_ENST00000361522.4_Missense_Mutation_p.K398Q|AGL_ENST00000370163.3_Missense_Mutation_p.K415Q|AGL_ENST00000370165.3_Missense_Mutation_p.K415Q|AGL_ENST00000370161.2_Missense_Mutation_p.K399Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	415					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCATGGTCCAAAACTAGGACC	0.353																																						dbGAP											0													119.0	108.0	112.0					1																	100340971		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1243A>C	1.37:g.100340971A>C	ENSP00000294724:p.Lys415Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.K415Q	ENST00000294724.4	37	c.1243	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445123	0.83993	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.94	5.94	0.96194	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	L	0.59912	1.85	0.80722	D	1	P;P;P	0.49635	0.926;0.926;0.879	P;P;P	0.54346	0.749;0.749;0.566	D	0.88317	0.2960	10	0.49607	T	0.09	.	16.4569	0.84021	1.0:0.0:0.0:0.0	.	398;399;415	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	415;415;415;415;399;399;398	ENSP00000355106:K415Q;ENSP00000359184:K415Q;ENSP00000359182:K415Q;ENSP00000294724:K415Q;ENSP00000354971:K399Q;ENSP00000359180:K399Q;ENSP00000354635:K398Q	ENSP00000294724:K415Q	K	+	1	0	AGL	100113559	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.888000	0.92464	2.289000	0.77006	0.524000	0.50904	AAA	AGL	-	superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.353	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	349	0.00	0	A	NM_000028		100340971	100340971	+1	no_errors	ENST00000294724	ensembl	human	known	69_37n	missense	253	13.95	41	SNP	1.000	C
AGMAT	79814	genome.wustl.edu	37	1	15901279	15901279	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:15901279C>T	ENST00000375826.3	-	6	1100	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	DNAJC16_ENST00000375849.1_3'UTR|DNAJC16_ENST00000483270.1_3'UTR	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	320					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAAACTTCGACAAGATCA	0.448																																					NSCLC(126;1678 1780 25805 43508 49531)	dbGAP											0													117.0	100.0	106.0					1																	15901279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.958G>A	1.37:g.15901279C>T	ENSP00000364986:p.Glu320Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDH1|Q9H5J3	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel	p.E320K	ENST00000375826.3	37	c.958	CCDS160.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235135	0.79800	.	.	ENSG00000116771	ENST00000375826	T	0.58940	0.3	5.93	5.02	0.67125	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.87724	0.6249	H	0.99894	4.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.93563	0.6897	10	0.87932	D	0	-25.1634	15.4392	0.75171	0.1399:0.8601:0.0:0.0	.	320	Q9BSE5	SPEB_HUMAN	K	320	ENSP00000364986:E320K	ENSP00000364986:E320K	E	-	1	0	AGMAT	15773866	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	5.367000	0.66127	1.515000	0.48885	0.603000	0.83216	GAA	AGMAT	-	pfam_Ureohydrolase,tigrfam_Agmatinase-rel	ENSG00000116771		0.448	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMAT	HGNC	protein_coding	OTTHUMT00000006763.1	116	0.00	0	C	NM_024758		15901279	15901279	-1	no_errors	ENST00000375826	ensembl	human	known	69_37n	missense	63	21.95	18	SNP	1.000	T
AGL	178	genome.wustl.edu	37	1	100350168	100350168	+	Nonsense_Mutation	SNP	C	C	T	rs113994130		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:100350168C>T	ENST00000294724.4	+	20	3068	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	AGL_ENST00000361915.3_Nonsense_Mutation_p.R864*|AGL_ENST00000361302.3_Nonsense_Mutation_p.R848*|AGL_ENST00000361522.4_Nonsense_Mutation_p.R847*|AGL_ENST00000370163.3_Nonsense_Mutation_p.R864*|AGL_ENST00000370165.3_Nonsense_Mutation_p.R864*|AGL_ENST00000370161.2_Nonsense_Mutation_p.R848*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	864					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAATTCTTCGAAATCATCT	0.333																																						dbGAP											0			GRCh37	CM960017	AGL	M	rs113994130						76.0	75.0	75.0					1																	100350168		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2590C>T	1.37:g.100350168C>T	ENSP00000294724:p.Arg864*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Nonsense_Mutation	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.R864*	ENST00000294724.4	37	c.2590	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.007797	0.99035	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.67	3.79	0.43588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7536	0.46223	0.1319:0.8001:0.0:0.068	.	.	.	.	X	864;864;864;864;848;848;847	.	ENSP00000294724:R864X	R	+	1	2	AGL	100122756	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	3.300000	0.51834	0.746000	0.32786	-0.321000	0.08615	CGA	AGL	-	tigrfam_Glycogen_debranch_met	ENSG00000162688		0.333	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	121	0.00	0	C	NM_000028		100350168	100350168	+1	no_errors	ENST00000294724	ensembl	human	known	69_37n	nonsense	76	11.63	10	SNP	1.000	T
AGMO	392636	genome.wustl.edu	37	7	15425114	15425114	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:15425114G>A	ENST00000342526.3	-	10	1200	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	344					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CAACATCAGAGCAAACTGTAC	0.358																																						dbGAP											0													102.0	100.0	101.0					7																	15425114		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1031C>T	7.37:g.15425114G>A	ENSP00000341662:p.Ala344Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D114|A6NCH5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.A344V	ENST00000342526.3	37	c.1031	CCDS34604.1	7	.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337395	0.05278	.	.	ENSG00000187546	ENST00000342526	T	0.29917	1.55	5.47	4.58	0.56647	.	0.275153	0.32258	N	0.006358	T	0.21227	0.0511	L	0.46157	1.445	0.29477	N	0.85665	B	0.14805	0.011	B	0.15052	0.012	T	0.25537	-1.0129	10	0.06099	T	0.92	-16.0164	8.3515	0.32305	0.2209:0.0:0.7791:0.0	.	344	Q6ZNB7	ALKMO_HUMAN	V	344	ENSP00000341662:A344V	ENSP00000341662:A344V	A	-	2	0	AGMO	15391639	0.716000	0.27956	0.993000	0.49108	0.641000	0.38312	1.054000	0.30455	2.582000	0.87167	0.655000	0.94253	GCT	AGMO	-	NULL	ENSG00000187546		0.358	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	156	0.00	0	G	NM_001004320		15425114	15425114	-1	no_errors	ENST00000342526	ensembl	human	known	69_37n	missense	125	11.27	16	SNP	0.896	A
AGTPBP1	23287	genome.wustl.edu	37	9	88204545	88204545	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:88204545G>A	ENST00000357081.3	-	20	2764	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R886W|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R834W			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	874					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ACATCTTTCCGAAAATAGATT	0.343																																						dbGAP											0													99.0	94.0	96.0					9																	88204545		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2620C>T	9.37:g.88204545G>A	ENSP00000349592:p.Arg874Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R886W	ENST00000357081.3	37	c.2656		9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219217	0.79464	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109	T;T;T	0.13307	2.6;2.6;2.6	5.96	5.96	0.96718	Peptidase M14, carboxypeptidase A (1);	0.051173	0.85682	D	0.000000	T	0.46560	0.1399	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77004	0.949;0.989;0.986	T	0.52578	-0.8557	10	0.87932	D	0	-12.4568	16.6815	0.85292	0.0:0.0:0.87:0.13	.	886;874;834	Q9UPW5-3;Q9UPW5;Q9UPW5-2	.;CBPC1_HUMAN;.	W	874;834;886	ENSP00000349592:R874W;ENSP00000365251:R834W;ENSP00000365277:R886W	ENSP00000349592:R874W	R	-	1	2	AGTPBP1	87394365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.802000	0.62539	2.832000	0.97577	0.655000	0.94253	CGG	AGTPBP1	-	pfam_Peptidase_M14	ENSG00000135049		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	303	0.00	0	G	NM_015239		88204545	88204545	-1	no_errors	ENST00000376109	ensembl	human	known	69_37n	missense	179	26.03	63	SNP	1.000	A
AGTR1	185	genome.wustl.edu	37	3	148459199	148459199	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:148459199G>A	ENST00000497524.1	+	2	768	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AGTR1_ENST00000542281.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000404754.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000474935.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000418473.2_Missense_Mutation_p.R126Q|AGTR1_ENST00000461609.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000402260.1_Missense_Mutation_p.R126Q|AGTR1_ENST00000349243.3_Missense_Mutation_p.R126Q|AGTR1_ENST00000475347.1_Missense_Mutation_p.R126Q	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	126					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AGCATTGATCGATACCTGGCT	0.507																																						dbGAP											0													132.0	126.0	128.0					3																	148459199		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.377G>A	3.37:g.148459199G>A	ENSP00000419422:p.Arg126Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13725|Q8TBK4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor	p.R126Q	ENST00000497524.1	37	c.377	CCDS3137.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.217913	0.95104	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	D;D;D;D;D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	10	0.87932	D	0	-11.7601	19.6742	0.95924	0.0:0.0:1.0:0.0	.	126	P30556	AGTR1_HUMAN	Q	126	ENSP00000419422:R126Q;ENSP00000273430:R126Q;ENSP00000443186:R126Q;ENSP00000398832:R126Q;ENSP00000385612:R126Q;ENSP00000419783:R126Q;ENSP00000418084:R126Q;ENSP00000418851:R126Q;ENSP00000385641:R126Q	ENSP00000273430:R126Q	R	+	2	0	AGTR1	149941889	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.707000	0.98725	2.639000	0.89480	0.655000	0.94253	CGA	AGTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	ENSG00000144891		0.507	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	HGNC	protein_coding	OTTHUMT00000355807.1	26	0.00	0	G			148459199	148459199	+1	no_errors	ENST00000349243	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	A
AGTR2	186	genome.wustl.edu	37	X	115303625	115303625	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:115303625C>A	ENST00000371906.4	+	3	282	c.92C>A	c.(91-93)tCt>tAt	p.S31Y		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	31					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	AACAATGAGTCTACCTTGAAC	0.388																																						dbGAP											0													126.0	109.0	115.0					X																	115303625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.92C>A	X.37:g.115303625C>A	ENSP00000360973:p.Ser31Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt	p.S31Y	ENST00000371906.4	37	c.92	CCDS14569.1	X	.	.	.	.	.	.	.	.	.	.	C	6.088	0.384599	0.11524	.	.	ENSG00000180772	ENST00000371906	T	0.38240	1.15	4.14	2.36	0.29203	.	0.844018	0.10647	N	0.650365	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	1	B	0.33448	0.412	B	0.31614	0.133	T	0.17410	-1.0370	10	0.51188	T	0.08	-5.3221	5.5128	0.16890	0.0:0.7389:0.0:0.2611	.	31	P50052	AGTR2_HUMAN	Y	31	ENSP00000360973:S31Y	ENSP00000360973:S31Y	S	+	2	0	AGTR2	115217653	0.004000	0.15560	0.057000	0.19452	0.788000	0.44548	0.528000	0.23002	0.273000	0.22049	0.506000	0.49869	TCT	AGTR2	-	prints_ATII_AT2_rcpt	ENSG00000180772		0.388	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	HGNC	protein_coding	OTTHUMT00000057984.1	304	0.00	0	C	NM_000686		115303625	115303625	+1	no_errors	ENST00000371906	ensembl	human	known	69_37n	missense	149	12.87	22	SNP	0.002	A
AGTRAP	57085	genome.wustl.edu	37	1	11806254	11806254	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:11806254C>T	ENST00000314340.5	+	2	116				AGTRAP_ENST00000376627.2_Nonsense_Mutation_p.R57*|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000400895.2_Nonsense_Mutation_p.R45*|AGTRAP_ENST00000376629.4_Intron|AGTRAP_ENST00000452018.2_Nonsense_Mutation_p.R45*|AGTRAP_ENST00000376637.3_Intron	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein						regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAAACTTCGAAGTGCAGC	0.448																																						dbGAP											0													68.0	65.0	66.0					1																	11806254		1958	4163	6121	-	-	-	SO:0001627	intron_variant	0			AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.62+360C>T	1.37:g.11806254C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Nonsense_Mutation	SNP	NULL	p.R45*	ENST00000314340.5	37	c.133	CCDS136.1	1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659497	0.29515	.	.	ENSG00000177674	ENST00000400895;ENST00000376627;ENST00000452018	.	.	.	2.76	-5.51	0.02568	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5124	0.22228	0.0:0.4501:0.3112:0.2387	.	.	.	.	X	45;57;45	.	ENSP00000365814:R57X	R	+	1	2	AGTRAP	11728841	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.675000	0.00841	-1.925000	0.01063	-3.551000	0.00030	CGA	AGTRAP	-	NULL	ENSG00000177674		0.448	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTRAP	HGNC	protein_coding	OTTHUMT00000006335.1	67	0.00	0	C	NM_020350		11806254	11806254	+1	no_errors	ENST00000452018	ensembl	human	known	69_37n	nonsense	35	50.68	37	SNP	0.000	T
AGXT2	64902	genome.wustl.edu	37	5	34998868	34998868	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:34998868A>C	ENST00000231420.6	-	14	1701	c.1501T>G	c.(1501-1503)Ttt>Gtt	p.F501V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	501					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GCAGAACGAAATACTTCTACT	0.373																																						dbGAP											0													221.0	197.0	205.0					5																	34998868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1501T>G	5.37:g.34998868A>C	ENSP00000231420:p.Phe501Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F501V	ENST00000231420.6	37	c.1501	CCDS3908.1	5	.	.	.	.	.	.	.	.	.	.	A	9.868	1.198043	0.22037	.	.	ENSG00000113492	ENST00000231420	T	0.19250	2.16	5.69	5.69	0.88448	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.046192	0.85682	D	0.000000	T	0.26882	0.0658	L	0.58354	1.805	0.50632	D	0.999887	B;D	0.60160	0.243;0.987	B;P	0.48063	0.033;0.565	T	0.02933	-1.1092	10	0.56958	D	0.05	-21.0081	9.2817	0.37733	0.8397:0.0:0.0:0.1603	.	426;501	E9PDL7;Q9BYV1	.;AGT2_HUMAN	V	501	ENSP00000231420:F501V	ENSP00000231420:F501V	F	-	1	0	AGXT2	35034625	0.992000	0.36948	0.827000	0.32855	0.034000	0.12701	2.087000	0.41653	2.171000	0.68590	0.528000	0.53228	TTT	AGXT2	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000113492		0.373	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	HGNC	protein_coding	OTTHUMT00000207574.2	991	0.00	0	A	NM_031900		34998868	34998868	-1	no_errors	ENST00000231420	ensembl	human	known	69_37n	missense	850	14.74	147	SNP	0.987	C
AHCTF1	25909	genome.wustl.edu	37	1	247076641	247076641	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:247076641C>T	ENST00000391829.2	-	4	572	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R159Q|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R185Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	150	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAAAAGCCATCGCAGACTTGG	0.408																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											0													71.0	72.0	72.0					1																	247076641		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.449G>A	1.37:g.247076641C>T	ENSP00000375705:p.Arg150Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.R159Q	ENST00000391829.2	37	c.476		1	.	.	.	.	.	.	.	.	.	.	C	36	5.616841	0.96649	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.21361	2.01;2.01;2.01	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.41945	-0.9480	10	0.62326	D	0.03	-11.7752	19.5077	0.95125	0.0:1.0:0.0:0.0	.	185;150	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Q	185;159;150	ENSP00000355464:R185Q;ENSP00000355465:R159Q;ENSP00000375705:R150Q	ENSP00000355465:R159Q	R	-	2	0	AHCTF1	245143264	1.000000	0.71417	0.903000	0.35520	0.960000	0.62799	7.466000	0.80914	2.683000	0.91414	0.655000	0.94253	CGA	AHCTF1	-	superfamily_Quinonprotein_ADH-like	ENSG00000153207		0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		261	0.76	2	C	NM_015446		247076641	247076641	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	missense	134	42.98	101	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62285595	62285595	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:62285595C>T	ENST00000378024.4	-	5	16568	c.16294G>A	c.(16294-16296)Gaa>Aaa	p.E5432K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5432					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTTCAGTTCGCCAGAAACC	0.527																																						dbGAP											0													74.0	75.0	75.0					11																	62285595		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.16294G>A	11.37:g.62285595C>T	ENSP00000367263:p.Glu5432Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E5432K	ENST00000378024.4	37	c.16294	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	9.414	1.081348	0.20309	.	.	ENSG00000124942	ENST00000378024	T	0.00932	5.53	4.69	4.69	0.59074	.	0.203842	0.23807	U	0.044368	T	0.02012	0.0063	N	0.17674	0.51	0.26697	N	0.971233	D	0.76494	0.999	P	0.61940	0.896	T	0.63152	-0.6701	10	0.19147	T	0.46	-13.7006	17.2349	0.86996	0.0:1.0:0.0:0.0	.	5432	Q09666	AHNK_HUMAN	K	5432	ENSP00000367263:E5432K	ENSP00000367263:E5432K	E	-	1	0	AHNAK	62042171	0.481000	0.25941	0.194000	0.23346	0.138000	0.21146	1.192000	0.32150	2.132000	0.65825	0.453000	0.30009	GAA	AHNAK	-	NULL	ENSG00000124942		0.527	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	125	0.00	0	C	NM_024060		62285595	62285595	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	75	26.92	28	SNP	0.490	T
AHNAK	79026	genome.wustl.edu	37	11	62286646	62286646	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:62286646C>A	ENST00000378024.4	-	5	15517	c.15243G>T	c.(15241-15243)aaG>aaT	p.K5081N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5081					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCGTTTTCTTGGTTTTGG	0.483																																						dbGAP											0													147.0	152.0	150.0					11																	62286646		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15243G>T	11.37:g.62286646C>A	ENSP00000367263:p.Lys5081Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K5081N	ENST00000378024.4	37	c.15243	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058345	0.36277	.	.	ENSG00000124942	ENST00000378024	T	0.10005	2.92	4.71	4.71	0.59529	.	0.148621	0.30593	N	0.009282	T	0.28167	0.0695	M	0.66439	2.03	0.37258	D	0.906855	D	0.65815	0.995	D	0.79784	0.993	T	0.08106	-1.0738	10	0.23302	T	0.38	-6.0249	13.4066	0.60917	0.0:0.8419:0.1581:0.0	.	5081	Q09666	AHNK_HUMAN	N	5081	ENSP00000367263:K5081N	ENSP00000367263:K5081N	K	-	3	2	AHNAK	62043222	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	2.560000	0.45896	2.335000	0.79485	0.542000	0.68232	AAG	AHNAK	-	NULL	ENSG00000124942		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	156	0.00	0	C	NM_024060		62286646	62286646	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	1.000	A
AHNAK	79026	genome.wustl.edu	37	11	62295891	62295891	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:62295891C>A	ENST00000378024.4	-	5	6272	c.5998G>T	c.(5998-6000)Ggc>Tgc	p.G2000C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2000					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGGCCTTTCAGGTGT	0.473																																						dbGAP											0													329.0	333.0	332.0					11																	62295891		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5998G>T	11.37:g.62295891C>A	ENSP00000367263:p.Gly2000Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G2000C	ENST00000378024.4	37	c.5998	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	11.51	1.660235	0.29515	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03358	3.96	3.63	3.63	0.41609	.	0.000000	0.41097	D	0.000956	T	0.27832	0.0685	H	0.97077	3.935	0.37597	D	0.92039	D	0.89917	1.0	D	0.80764	0.994	T	0.54603	-0.8269	10	0.87932	D	0	-2.4978	13.1669	0.59575	0.0:1.0:0.0:0.0	.	2000	Q09666	AHNK_HUMAN	C	89;2000	ENSP00000367263:G2000C	ENSP00000244934:G89C	G	-	1	0	AHNAK	62052467	0.998000	0.40836	0.553000	0.28255	0.350000	0.29205	0.832000	0.27490	1.590000	0.49995	0.291000	0.19559	GGC	AHNAK	-	NULL	ENSG00000124942		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	283	0.00	0	C	NM_024060		62295891	62295891	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	210	14.98	37	SNP	0.993	A
AHNAK	79026	genome.wustl.edu	37	11	62297185	62297185	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:62297185C>A	ENST00000378024.4	-	5	4978	c.4704G>T	c.(4702-4704)aaG>aaT	p.K1568N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1568					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCTTGGCATCTTGAACTTAG	0.438																																						dbGAP											0													104.0	113.0	110.0					11																	62297185		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4704G>T	11.37:g.62297185C>A	ENSP00000367263:p.Lys1568Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1568N	ENST00000378024.4	37	c.4704	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	12.96	2.094043	0.36952	.	.	ENSG00000124942	ENST00000378024	T	0.00691	5.84	4.38	3.46	0.39613	.	.	.	.	.	T	0.04363	0.0120	M	0.88181	2.935	0.34802	D	0.736812	D	0.89917	1.0	D	0.87578	0.998	T	0.05178	-1.0901	9	0.56958	D	0.05	.	7.2247	0.26007	0.0:0.7745:0.0:0.2255	.	1568	Q09666	AHNK_HUMAN	N	1568	ENSP00000367263:K1568N	ENSP00000367263:K1568N	K	-	3	2	AHNAK	62053761	0.369000	0.25039	1.000000	0.80357	0.310000	0.27922	-0.345000	0.07770	1.978000	0.57642	0.298000	0.19748	AAG	AHNAK	-	NULL	ENSG00000124942		0.438	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	84	0.00	0	C	NM_024060		62297185	62297185	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	A
AIMP2	7965	genome.wustl.edu	37	7	6054811	6054811	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:6054811C>T	ENST00000223029.3	+	2	289	c.170C>T	c.(169-171)tCc>tTc	p.S57F	AIMP2_ENST00000400479.2_5'UTR|SNORA42_ENST00000384488.1_RNA|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	57					apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCTCTTGAGTCCCGCCAAGAT	0.423																																						dbGAP											0													175.0	174.0	174.0					7																	6054811		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.170C>T	7.37:g.6054811C>T	ENSP00000223029:p.Ser57Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.S57F	ENST00000223029.3	37	c.170	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638895	0.67130	.	.	ENSG00000106305	ENST00000223029	T	0.32023	1.47	5.26	5.26	0.73747	.	0.233910	0.44483	D	0.000451	T	0.35278	0.0926	M	0.68317	2.08	0.80722	D	1	P	0.45715	0.865	B	0.39706	0.307	T	0.37056	-0.9722	10	0.72032	D	0.01	-20.7044	15.9655	0.79968	0.0:0.8655:0.1345:0.0	.	57	Q13155	AIMP2_HUMAN	F	57	ENSP00000223029:S57F	ENSP00000223029:S57F	S	+	2	0	AIMP2	6021337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.295000	0.59049	2.457000	0.83068	0.650000	0.86243	TCC	AIMP2	-	NULL	ENSG00000106305		0.423	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	229	0.43	1	C	NM_006303		6054811	6054811	+1	no_errors	ENST00000223029	ensembl	human	known	69_37n	missense	178	11.00	22	SNP	1.000	T
AK5	26289	genome.wustl.edu	37	1	77987614	77987614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:77987614G>T	ENST00000354567.2	+	12	1677	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	AK5_ENST00000344720.5_Nonsense_Mutation_p.E446*	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	472	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GCAAGGGGAAGAGTTCGGACG	0.537																																						dbGAP											0													52.0	53.0	53.0					1																	77987614		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1414G>T	1.37:g.77987614G>T	ENSP00000346577:p.Glu472*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.E472*	ENST00000354567.2	37	c.1414	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.801797	0.99764	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	.	.	.	4.76	4.76	0.60689	.	0.077808	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-24.2653	16.9143	0.86147	0.0:0.0:1.0:0.0	.	.	.	.	X	472;446	.	ENSP00000341430:E446X	E	+	1	0	AK5	77760202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.791000	0.91849	2.343000	0.79666	0.650000	0.86243	GAG	AK5	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenylate_kin1	ENSG00000154027		0.537	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	188	0.00	0	G	NM_174858		77987614	77987614	+1	no_errors	ENST00000354567	ensembl	human	known	69_37n	nonsense	118	13.87	19	SNP	1.000	T
AK7	122481	genome.wustl.edu	37	14	96909082	96909082	+	Missense_Mutation	SNP	G	G	A	rs114393353		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:96909082G>A	ENST00000267584.4	+	7	750	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	236					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E236*(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTGGTTGGGCGAGATTCCTGC	0.448																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											299.0	265.0	277.0					14																	96909082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.706G>A	14.37:g.96909082G>A	ENSP00000267584:p.Glu236Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.E236K	ENST00000267584.4	37	c.706	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114351	0.20795	.	.	ENSG00000140057	ENST00000267584	T	0.54071	0.59	4.64	4.64	0.57946	NAD(P)-binding domain (1);	0.456133	0.23556	N	0.046908	T	0.44540	0.1298	L	0.39326	1.205	0.80722	D	1	B	0.19331	0.035	B	0.16722	0.016	T	0.31641	-0.9936	10	0.27082	T	0.32	-3.6097	15.337	0.74266	0.0:0.0:1.0:0.0	.	236	Q96M32	KAD7_HUMAN	K	236	ENSP00000267584:E236K	ENSP00000267584:E236K	E	+	1	0	AK7	95978835	1.000000	0.71417	0.131000	0.22000	0.070000	0.16714	6.262000	0.72514	2.266000	0.75297	0.563000	0.77884	GAG	AK7	-	NULL	ENSG00000140057		0.448	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	540	0.00	0	G			96909082	96909082	+1	no_errors	ENST00000267584	ensembl	human	known	69_37n	missense	534	11.13	67	SNP	0.973	A
AKAP1	8165	genome.wustl.edu	37	17	55184058	55184058	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:55184058T>G	ENST00000337714.3	+	2	1466	c.1233T>G	c.(1231-1233)gcT>gcG	p.A411A	AKAP1_ENST00000539273.1_Silent_p.A411A|AKAP1_ENST00000571629.1_Silent_p.A411A|AKAP1_ENST00000314126.3_Silent_p.A411A|AKAP1_ENST00000572557.1_Silent_p.A411A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	411					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CAGAGGCAGCTGTTGCCCCGC	0.617																																						dbGAP											0													52.0	57.0	55.0					17																	55184058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.1233T>G	17.37:g.55184058T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.A411	ENST00000337714.3	37	c.1233	CCDS11594.1	17																																																																																			AKAP1	-	NULL	ENSG00000121057		0.617	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	45	0.00	0	T			55184058	55184058	+1	no_errors	ENST00000337714	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.000	G
AKAP11	11215	genome.wustl.edu	37	13	42874233	42874233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:42874233C>T	ENST00000025301.2	+	8	1526	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	451					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TAGTCCTATTCGATCCTCTGC	0.433																																						dbGAP											0													158.0	140.0	146.0					13																	42874233		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1351C>T	13.37:g.42874233C>T	ENSP00000025301:p.Arg451*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75124|Q9NUK7	Nonsense_Mutation	SNP	NULL	p.R451*	ENST00000025301.2	37	c.1351	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.745442	0.96882	.	.	ENSG00000023516	ENST00000025301	.	.	.	5.21	4.32	0.51571	.	0.125781	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9813	0.71313	0.2358:0.7642:0.0:0.0	.	.	.	.	X	451	.	ENSP00000025301:R451X	R	+	1	2	AKAP11	41772233	0.986000	0.35501	1.000000	0.80357	0.768000	0.43524	1.871000	0.39539	2.580000	0.87095	0.585000	0.79938	CGA	AKAP11	-	NULL	ENSG00000023516		0.433	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	189	0.00	0	C	NM_016248		42874233	42874233	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	nonsense	116	34.09	60	SNP	1.000	T
AKAP13	11214	genome.wustl.edu	37	15	86123532	86123532	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:86123532G>T	ENST00000394518.2	+	7	2328	c.2233G>T	c.(2233-2235)Gat>Tat	p.D745Y	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D745Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	745					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCAACGAAAAGATGTGAAACT	0.458																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													68.0	69.0	68.0					15																	86123532		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2233G>T	15.37:g.86123532G>T	ENSP00000378026:p.Asp745Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D745Y	ENST00000394518.2	37	c.2233	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384289	0.61845	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.14640	2.5;2.49	5.88	4.96	0.65561	.	.	.	.	.	T	0.20861	0.0502	L	0.27053	0.805	0.32695	N	0.513624	D;D	0.65815	0.992;0.995	P;P	0.60473	0.754;0.875	T	0.17592	-1.0364	9	0.72032	D	0.01	.	10.8531	0.46782	0.0864:0.0:0.9136:0.0	.	745;745	Q12802;Q12802-2	AKP13_HUMAN;.	Y	745;745;744;744	ENSP00000354718:D745Y;ENSP00000378026:D745Y	ENSP00000354718:D745Y	D	+	1	0	AKAP13	83924536	0.003000	0.15002	0.022000	0.16811	0.075000	0.17131	0.860000	0.27871	1.476000	0.48215	0.655000	0.94253	GAT	AKAP13	-	NULL	ENSG00000170776		0.458	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	82	0.00	0	G	NM_007200		86123532	86123532	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	74	11.90	10	SNP	0.023	T
AKAP3	10566	genome.wustl.edu	37	12	4736363	4736363	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:4736363C>T	ENST00000545990.2	-	5	2229	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D569N|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	569					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAAGATTCATCGGGAGCTACA	0.483																																						dbGAP											0													56.0	55.0	56.0					12																	4736363		2203	4300	6503	-	-	-	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1705G>A	12.37:g.4736363C>T	ENSP00000440994:p.Asp569Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.D569N	ENST00000545990.2	37	c.1705	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	C	0.189	-1.055317	0.01965	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08634	3.07;3.07	5.95	3.16	0.36331	A-kinase anchor 110kDa, C-terminal (1);	0.475892	0.21454	N	0.074295	T	0.07548	0.0190	L	0.57536	1.79	0.09310	N	1	B	0.18310	0.027	B	0.12837	0.008	T	0.44375	-0.9332	10	0.08837	T	0.75	-6.7019	6.2424	0.20797	0.0:0.6849:0.1524:0.1627	.	569	O75969	AKAP3_HUMAN	N	569	ENSP00000228850:D569N;ENSP00000440994:D569N	ENSP00000228850:D569N	D	-	1	0	AKAP3	4606624	0.068000	0.21057	0.003000	0.11579	0.001000	0.01503	1.643000	0.37217	0.424000	0.26061	-0.136000	0.14681	GAT	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.483	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	99	0.00	0	C	NM_006422		4736363	4736363	-1	no_errors	ENST00000228850	ensembl	human	known	69_37n	missense	61	12.86	9	SNP	0.003	T
AKAP4	8852	genome.wustl.edu	37	X	49958210	49958210	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:49958210G>T	ENST00000376056.2	-	5	1277	c.1127C>A	c.(1126-1128)tCt>tAt	p.S376Y	AKAP4_ENST00000358526.2_Missense_Mutation_p.S385Y|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.S376Y					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTCATGCAAGAATCAATCAA	0.448																																						dbGAP											0													74.0	62.0	66.0					X																	49958210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1127C>A	X.37:g.49958210G>T	ENSP00000365224:p.Ser376Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S385Y	ENST00000376056.2	37	c.1154	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729830	0.48833	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.13420	2.59;2.59;2.59	4.77	4.77	0.60923	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.47852	D	0.000218	T	0.36853	0.0982	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.13335	-1.0513	9	.	.	.	-9.3031	12.3529	0.55159	0.0:0.0:1.0:0.0	.	385	Q5JQC9	AKAP4_HUMAN	Y	376;385;376	ENSP00000365224:S376Y;ENSP00000351327:S385Y;ENSP00000365232:S376Y	.	S	-	2	0	AKAP4	49844950	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	5.550000	0.67268	1.964000	0.57103	0.468000	0.43344	TCT	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	134	0.00	0	G	NM_003886		49958210	49958210	-1	no_errors	ENST00000358526	ensembl	human	known	69_37n	missense	80	26.61	29	SNP	0.998	T
AKAP6	9472	genome.wustl.edu	37	14	33014535	33014535	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:33014535G>A	ENST00000280979.4	+	4	846	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	AKAP6_ENST00000557272.1_Missense_Mutation_p.E226K|AKAP6_ENST00000557354.1_Missense_Mutation_p.E226K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	226					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TACTGCATTCGAACTGTCTGA	0.453																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													157.0	141.0	146.0					14																	33014535		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.676G>A	14.37:g.33014535G>A	ENSP00000280979:p.Glu226Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.E226K	ENST00000280979.4	37	c.676	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956218	0.92726	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.35421	2.57;1.33;1.31	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.61811	-0.6986	10	0.87932	D	0	-18.1629	20.2963	0.98556	0.0:0.0:1.0:0.0	.	226;226	A7E242;Q13023	.;AKAP6_HUMAN	K	226	ENSP00000280979:E226K;ENSP00000450531:E226K;ENSP00000451247:E226K	ENSP00000280979:E226K	E	+	1	0	AKAP6	32084286	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.044000	0.93805	2.813000	0.96785	0.655000	0.94253	GAA	AKAP6	-	NULL	ENSG00000151320		0.453	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	273	0.00	0	G	NM_004274		33014535	33014535	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	194	16.24	38	SNP	1.000	A
AKAP6	9472	genome.wustl.edu	37	14	33291974	33291974	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:33291974G>A	ENST00000280979.4	+	13	5125	c.4955G>A	c.(4954-4956)cGa>cAa	p.R1652Q	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1652	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGATAAAACGAAGTGTTTCT	0.423																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													73.0	72.0	72.0					14																	33291974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4955G>A	14.37:g.33291974G>A	ENSP00000280979:p.Arg1652Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.R1652Q	ENST00000280979.4	37	c.4955	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355154	0.82243	.	.	ENSG00000151320	ENST00000280979	T	0.17854	2.25	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.25779	-1.0122	10	0.87932	D	0	-9.6398	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1652	Q13023	AKAP6_HUMAN	Q	1652	ENSP00000280979:R1652Q	ENSP00000280979:R1652Q	R	+	2	0	AKAP6	32361725	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.512000	0.81728	2.843000	0.97960	0.650000	0.86243	CGA	AKAP6	-	NULL	ENSG00000151320		0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	198	0.00	0	G	NM_004274		33291974	33291974	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	134	20.71	35	SNP	1.000	A
AKAP9	10142	genome.wustl.edu	37	7	91630601	91630601	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91630601T>C	ENST00000359028.2	+	9	1631	c.1406T>C	c.(1405-1407)aTg>aCg	p.M469T	AKAP9_ENST00000356239.3_Missense_Mutation_p.M457T|AKAP9_ENST00000358100.2_Missense_Mutation_p.M469T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	469	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGACAACACATGGCACAGATG	0.373			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													100.0	107.0	105.0					7																	91630601		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1406T>C	7.37:g.91630601T>C	ENSP00000351922:p.Met469Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.M469T	ENST00000359028.2	37	c.1406		7	.	.	.	.	.	.	.	.	.	.	T	0.102	-1.151178	0.01700	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.02916	4.12;4.11;4.11	5.76	5.76	0.90799	.	0.416142	0.20602	N	0.089137	T	0.03136	0.0092	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.18166	0.026;0.002;0.003;0.0	B;B;B;B	0.14023	0.01;0.004;0.003;0.002	T	0.39187	-0.9626	10	0.33940	T	0.23	.	6.4083	0.21676	0.0:0.1889:0.0:0.8111	.	469;457;457;469	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	T	457;469;469;469;469	ENSP00000348573:M457T;ENSP00000351922:M469T;ENSP00000350813:M469T	ENSP00000348573:M457T	M	+	2	0	AKAP9	91468537	0.157000	0.22836	0.970000	0.41538	0.158000	0.22134	3.101000	0.50283	2.323000	0.78572	0.528000	0.53228	ATG	AKAP9	-	NULL	ENSG00000127914		0.373	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		93	0.00	0	T	NM_005751		91630601	91630601	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	81	17.35	17	SNP	0.290	C
AKAP9	10142	genome.wustl.edu	37	7	91630970	91630970	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91630970A>C	ENST00000359028.2	+	9	2000	c.1775A>C	c.(1774-1776)gAa>gCa	p.E592A	AKAP9_ENST00000356239.3_Missense_Mutation_p.E580A|AKAP9_ENST00000358100.2_Missense_Mutation_p.E592A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	592	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGCATCTGAATCCAGAAAG	0.333			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													66.0	71.0	69.0					7																	91630970		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1775A>C	7.37:g.91630970A>C	ENSP00000351922:p.Glu592Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E592A	ENST00000359028.2	37	c.1775		7	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470358	0.26423	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.46063	0.88;0.88;0.88	5.53	4.38	0.52667	.	0.000000	0.40818	N	0.001011	T	0.52853	0.1760	L	0.47716	1.5	0.38108	D	0.937478	B;B;P;D	0.76494	0.296;0.42;0.946;0.999	B;B;P;D	0.75484	0.097;0.198;0.509;0.986	T	0.57745	-0.7758	10	0.72032	D	0.01	.	7.4899	0.27456	0.7853:0.1427:0.0721:0.0	.	592;580;580;592	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	A	580;592;592;592;592	ENSP00000348573:E580A;ENSP00000351922:E592A;ENSP00000350813:E592A	ENSP00000348573:E580A	E	+	2	0	AKAP9	91468906	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	5.479000	0.66813	1.048000	0.40298	0.533000	0.62120	GAA	AKAP9	-	NULL	ENSG00000127914		0.333	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		80	0.00	0	A	NM_005751		91630970	91630970	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	85	24.11	27	SNP	0.906	C
AKAP9	10142	genome.wustl.edu	37	7	91631472	91631472	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91631472A>C	ENST00000359028.2	+	9	2502	c.2277A>C	c.(2275-2277)gaA>gaC	p.E759D	AKAP9_ENST00000356239.3_Missense_Mutation_p.E747D|AKAP9_ENST00000358100.2_Missense_Mutation_p.E759D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	759	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTTCAAGAATTACAACTTA	0.299			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													36.0	40.0	39.0					7																	91631472		2176	4277	6453	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2277A>C	7.37:g.91631472A>C	ENSP00000351922:p.Glu759Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E759D	ENST00000359028.2	37	c.2277		7	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207861	0.39003	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.48836	0.8;0.8;0.8	5.73	1.78	0.24846	.	0.169199	0.28301	N	0.015853	T	0.56016	0.1957	L	0.60455	1.87	0.26112	N	0.980674	P;P;P;D	0.76494	0.924;0.955;0.867;0.999	B;P;B;D	0.79108	0.437;0.64;0.382;0.992	T	0.42865	-0.9426	10	0.26408	T	0.33	.	6.4995	0.22160	0.4547:0.0:0.5453:0.0	.	759;747;747;759	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	D	747;759;759;759;759	ENSP00000348573:E747D;ENSP00000351922:E759D;ENSP00000350813:E759D	ENSP00000348573:E747D	E	+	3	2	AKAP9	91469408	0.984000	0.35163	1.000000	0.80357	0.989000	0.77384	0.878000	0.28126	0.549000	0.28973	0.529000	0.55759	GAA	AKAP9	-	NULL	ENSG00000127914		0.299	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		74	0.00	0	A	NM_005751		91631472	91631472	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	0.999	C
AKAP9	10142	genome.wustl.edu	37	7	91659282	91659282	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91659282A>T	ENST00000359028.2	+	16	4483	c.4258A>T	c.(4258-4260)Aag>Tag	p.K1420*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1408*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1420*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1420					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGTGTGAAAAAGAATATTGA	0.279			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													97.0	104.0	101.0					7																	91659282		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4258A>T	7.37:g.91659282A>T	ENSP00000351922:p.Lys1420*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.K1420*	ENST00000359028.2	37	c.4258		7	.	.	.	.	.	.	.	.	.	.	A	42	9.480454	0.99183	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	4.24	0.25	0.15535	.	0.953299	0.08551	N	0.929016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	5.8953	0.18935	0.2744:0.2618:0.4638:0.0	.	.	.	.	X	1408;1420;1420;1420;1420	.	ENSP00000348573:K1408X	K	+	1	0	AKAP9	91497218	0.236000	0.23804	0.044000	0.18714	0.923000	0.55619	0.126000	0.15769	0.032000	0.15435	-0.462000	0.05337	AAG	AKAP9	-	NULL	ENSG00000127914		0.279	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		321	0.00	0	A	NM_005751		91659282	91659282	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	nonsense	190	11.98	26	SNP	0.077	T
AKAP9	10142	genome.wustl.edu	37	7	91682177	91682177	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91682177G>T	ENST00000359028.2	+	23	5767	c.5542G>T	c.(5542-5544)Gac>Tac	p.D1848Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.D1836Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.D1848Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1848	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTGAAATAGACCCTGAAAA	0.413			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													134.0	119.0	124.0					7																	91682177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5542G>T	7.37:g.91682177G>T	ENSP00000351922:p.Asp1848Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.D1848Y	ENST00000359028.2	37	c.5542		7	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812351	0.50527	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03496	3.92;3.92;3.91	5.25	5.25	0.73442	.	0.000000	0.40144	N	0.001177	T	0.15176	0.0366	M	0.67953	2.075	0.37085	D	0.899175	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.972;0.975;0.988	T	0.00501	-1.1702	10	0.66056	D	0.02	.	12.5604	0.56277	0.0765:0.0:0.9234:0.0	.	1848;1836;1836	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Y	1836;1848;1848;1848	ENSP00000348573:D1836Y;ENSP00000351922:D1848Y;ENSP00000350813:D1848Y	ENSP00000348573:D1836Y	D	+	1	0	AKAP9	91520113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.358000	0.59442	2.606000	0.88127	0.591000	0.81541	GAC	AKAP9	-	NULL	ENSG00000127914		0.413	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		162	0.00	0	G	NM_005751		91682177	91682177	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	113	10.32	13	SNP	1.000	T
AKAP9	10142	genome.wustl.edu	37	7	91726195	91726195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91726195C>T	ENST00000359028.2	+	41	10159	c.9934C>T	c.(9934-9936)Cga>Tga	p.R3312*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3308*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3258*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3312					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAGAAAGTTCGAATTCGGGA	0.473			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													97.0	95.0	96.0					7																	91726195		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9934C>T	7.37:g.91726195C>T	ENSP00000351922:p.Arg3312*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.R3312*	ENST00000359028.2	37	c.9934		7	.	.	.	.	.	.	.	.	.	.	C	52	19.827246	0.99924	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.56	3.71	0.42584	.	0.000000	0.37577	N	0.002026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1186	0.36773	0.2684:0.6625:0.0:0.0691	.	.	.	.	X	3308;3312;3258;3312;1154	.	ENSP00000348573:R3308X	R	+	1	2	AKAP9	91564131	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	3.129000	0.50500	0.773000	0.33404	0.655000	0.94253	CGA	AKAP9	-	NULL	ENSG00000127914		0.473	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		199	0.00	0	C	NM_005751		91726195	91726195	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	nonsense	114	23.49	35	SNP	0.998	T
AK9	221264	genome.wustl.edu	37	6	109816583	109816583	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:109816583C>T	ENST00000424296.2	-	39	5452	c.5376G>A	c.(5374-5376)ccG>ccA	p.P1792P	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1792					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TAAGAAGTATCGGTTCCCTTA	0.378																																						dbGAP											0													133.0	136.0	135.0					6																	109816583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5376G>A	6.37:g.109816583C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin	p.R630Q	ENST00000424296.2	37	c.1889	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.042|0.042	-1.282212|-1.282212	0.01398|0.01398	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000470564	.|.	.|.	.|.	5.5|5.5	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|T	0.18087|0.18087	0.0434|0.0434	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42120|0.42120	-0.9470|-0.9470	4|4	.|.	.|.	.|.	.|.	3.2743|3.2743	0.06893|0.06893	0.1945:0.0771:0.2555:0.4729|0.1945:0.0771:0.2555:0.4729	.|.	.|.	.|.	.|.	N|Q	193|630	.|.	.|.	D|R	-|-	1|2	0|0	AKD1|AKD1	109923276|109923276	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.014000|0.014000	0.08584|0.08584	-1.770000|-1.770000	0.01791|0.01791	-1.655000|-1.655000	0.01497|0.01497	-0.169000|-0.169000	0.13324|0.13324	GAT|CGA	AKD1	-	NULL	ENSG00000155085		0.378	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		927	0.00	0	C	NM_001145128		109816583	109816583	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000470564	ensembl	human	novel	69_37n	missense	464	23.61	144	SNP	0.037	T
AK9	221264	genome.wustl.edu	37	6	109827867	109827867	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:109827867T>G	ENST00000424296.2	-	34	4694	c.4618A>C	c.(4618-4620)Aat>Cat	p.N1540H	RP5-919F19.5_ENST00000423747.2_RNA|AL109947.2_ENST00000517228.1_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1540	Adenylate kinase 3.|LID 3. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CTTTGTTCATTTTCTTTTTCT	0.343																																						dbGAP											0													163.0	125.0	136.0					6																	109827867		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4618A>C	6.37:g.109827867T>G	ENSP00000410186:p.Asn1540His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.N1540H	ENST00000424296.2	37	c.4618	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.34|12.34	1.910079|1.910079	0.33721|0.33721	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.65549	.|-0.16	5.09|5.09	2.72|2.72	0.32119|0.32119	.|ATPase, AAA+ type, core (1);	.|.	.|.	.|.	.|.	T|T	0.25082|0.25082	0.0609|0.0609	N|N	0.08118|0.08118	0|0	0.23464|0.23464	N|N	0.997624|0.997624	.|P	.|0.43231	.|0.801	.|P	.|0.45474	.|0.482	T|T	0.08289|0.08289	-1.0729|-1.0729	5|8	.|.	.|.	.|.	.|.	8.8347|8.8347	0.35104|0.35104	0.0:0.1534:0.0:0.8466|0.0:0.1534:0.0:0.8466	.|.	.|1540	.|Q5TCS8	.|AKD1_HUMAN	N|H	377|1540	.|ENSP00000410186:N1540H	.|.	K|N	-|-	3|1	2|0	AKD1|AKD1	109934560|109934560	0.928000|0.928000	0.31464|0.31464	0.001000|0.001000	0.08648|0.08648	0.333000|0.333000	0.28666|0.28666	1.908000|1.908000	0.39907|0.39907	0.783000|0.783000	0.33636|0.33636	0.528000|0.528000	0.53228|0.53228	AAA|AAT	AKD1	-	pfam_Adenylate_kin,smart_AAA+_ATPase	ENSG00000155085		0.343	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		157	0.00	0	T	NM_001145128		109827867	109827867	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	missense	161	10.06	18	SNP	0.005	G
AKNAD1	254268	genome.wustl.edu	37	1	109359684	109359684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:109359684C>A	ENST00000370001.3	-	15	2633	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	789						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATTTTATTTCTTCAGTGCTA	0.428																																						dbGAP											0													89.0	92.0	91.0					1																	109359684		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2365G>T	1.37:g.109359684C>A	ENSP00000359018:p.Glu789*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	pfam_TF_AT-hook	p.E789*	ENST00000370001.3	37	c.2365	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	C	39	7.723997	0.98453	.	.	ENSG00000162641	ENST00000370001	.	.	.	5.62	1.2	0.21068	.	1.323230	0.05189	N	0.502712	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.5848	3.566	0.07900	0.0:0.3171:0.2037:0.4792	.	.	.	.	X	789	.	ENSP00000359018:E789X	E	-	1	0	AKNAD1	109161207	0.049000	0.20398	0.008000	0.14137	0.040000	0.13550	0.467000	0.22035	0.059000	0.16252	0.655000	0.94253	GAA	AKNAD1	-	NULL	ENSG00000162641		0.428	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	312	0.00	0	C	NM_152763		109359684	109359684	-1	no_errors	ENST00000370001	ensembl	human	known	69_37n	nonsense	222	18.38	50	SNP	0.037	A
AKR1C4	1109	genome.wustl.edu	37	10	5238627	5238627	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5238627C>A	ENST00000380448.1	+	3	205				U8_ENST00000516100.1_RNA|AKR1C4_ENST00000263126.1_5'Flank|AKR1CL1_ENST00000445191.1_Intron			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4						androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TGTAAAAATTCTCTTTGATAA	0.338																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.-48-156C>A	10.37:g.5238627C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6A3|Q8WW84|Q9NS54	RNA	SNP	-	NULL	ENST00000380448.1	37	NULL	CCDS7064.1	10																																																																																			AKR1C4	-	-	ENSG00000198610		0.338	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	40	0.00	0	C	NM_001818		5238627	5238627	+1	no_errors	ENST00000469875	ensembl	human	known	69_37n	rna	30	16.67	6	SNP	0.000	A
AKR1C4	1109	genome.wustl.edu	37	10	5254997	5254997	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5254997C>A	ENST00000380448.1	+	9	974	c.721C>A	c.(721-723)Ctt>Att	p.L241I	AKR1C4_ENST00000263126.1_Missense_Mutation_p.L241I			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	241					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GGACCCAGTTCTTTGTGCCTT	0.532																																						dbGAP											0													52.0	51.0	51.0					10																	5254997		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.721C>A	10.37:g.5254997C>A	ENSP00000369814:p.Leu241Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L241I	ENST00000380448.1	37	c.721	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	C	2.723	-0.266092	0.05754	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.27557	1.66;1.66	3.3	2.36	0.29203	NADP-dependent oxidoreductase domain (3);	0.117593	0.37219	N	0.002183	T	0.32224	0.0822	L	0.39085	1.19	0.34110	D	0.662888	B	0.27192	0.171	P	0.48270	0.572	T	0.41822	-0.9487	10	0.17832	T	0.49	.	6.0313	0.19681	0.0:0.7363:0.0:0.2637	.	241	P17516	AK1C4_HUMAN	I	241	ENSP00000369814:L241I;ENSP00000263126:L241I	ENSP00000263126:L241I	L	+	1	0	AKR1C4	5244997	0.002000	0.14202	0.424000	0.26647	0.021000	0.10359	-0.088000	0.11198	1.362000	0.46000	0.313000	0.20887	CTT	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000198610		0.532	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	202	0.00	0	C	NM_001818		5254997	5254997	+1	no_errors	ENST00000263126	ensembl	human	known	69_37n	missense	99	24.24	32	SNP	0.638	A
ALCAM	214	genome.wustl.edu	37	3	105243280	105243280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:105243280G>T	ENST00000306107.5	+	3	822	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	ALCAM_ENST00000486979.2_Nonsense_Mutation_p.E57*|ALCAM_ENST00000472644.2_Nonsense_Mutation_p.E108*|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	108	Ig-like V-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GATCAGTGATGAAAAGAGATT	0.413																																						dbGAP											0													217.0	197.0	203.0					3																	105243280		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.322G>T	3.37:g.105243280G>T	ENSP00000305988:p.Glu108*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Nonsense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.E108*	ENST00000306107.5	37	c.322	CCDS33810.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.119033	0.94385	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	.	.	.	5.63	3.8	0.43715	.	0.090107	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-13.7849	11.6222	0.51124	0.0674:0.1248:0.8078:0.0	.	.	.	.	X	108;108;57	.	ENSP00000305988:E108X	E	+	1	0	ALCAM	106725970	1.000000	0.71417	0.745000	0.31077	0.956000	0.61745	3.932000	0.56537	0.818000	0.34468	0.655000	0.94253	GAA	ALCAM	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr	ENSG00000170017		0.413	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	355	0.28	1	G	NM_001627		105243280	105243280	+1	no_errors	ENST00000306107	ensembl	human	known	69_37n	nonsense	214	25.44	73	SNP	1.000	T
ALDH1A1	216	genome.wustl.edu	37	9	75545796	75545796	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:75545796G>A	ENST00000297785.3	-	3	365	c.311C>T	c.(310-312)gCg>gTg	p.A104V	ALDH1A1_ENST00000376939.1_Splice_Site_p.A104V|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	104					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	AATACTCACCGCCAGCAGCAG	0.453																																						dbGAP											0													93.0	90.0	91.0					9																	75545796		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.312+1C>T	9.37:g.75545796G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.A104V	ENST00000297785.3	37	c.311	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291929	0.80914	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.162939	0.43260	D	0.000581	T	0.42539	0.1207	M	0.80028	2.48	0.52099	D	0.999946	D	0.67145	0.996	P	0.54889	0.763	T	0.42120	-0.9470	10	0.87932	D	0	.	15.3336	0.74234	0.0:0.1391:0.8609:0.0	.	104	P00352	AL1A1_HUMAN	V	104;104;118;104;104	ENSP00000297785:A104V;ENSP00000366138:A104V;ENSP00000388026:A104V;ENSP00000401361:A104V	ENSP00000297785:A104V	A	-	2	0	ALDH1A1	74735616	1.000000	0.71417	0.944000	0.38274	0.526000	0.34562	6.170000	0.71920	2.683000	0.91414	0.650000	0.86243	GCG	ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.453	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	174	0.00	0	G		Missense_Mutation	75545796	75545796	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	missense	96	15.52	18	SNP	0.998	A
ALDH1A3	220	genome.wustl.edu	37	15	101433160	101433160	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:101433160C>T	ENST00000329841.5	+	5	1018	c.486C>T	c.(484-486)gtC>gtT	p.V162V	ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	162					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ATGACAACGTCGTGTGCTTCA	0.483																																						dbGAP											0													165.0	129.0	141.0					15																	101433160		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.486C>T	15.37:g.101433160C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT64	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S119L	ENST00000329841.5	37	c.356	CCDS10389.1	15																																																																																			ALDH1A3	-	NULL	ENSG00000184254		0.483	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	103	0.00	0	C			101433160	101433160	+1	no_errors	ENST00000558033	ensembl	human	known	69_37n	missense	43	37.68	26	SNP	0.353	T
ALDH6A1	4329	genome.wustl.edu	37	14	74532021	74532021	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:74532021G>T	ENST00000553458.1	-	10	1365	c.1267C>A	c.(1267-1269)Ctt>Att	p.L423I	CCDC176_ENST00000394009.3_3'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.L410I|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.L140I	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	423					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		AGAACCACAAGAACTGGACCA	0.418																																						dbGAP											0													100.0	90.0	94.0					14																	74532021		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.1267C>A	14.37:g.74532021G>T	ENSP00000450436:p.Leu423Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	p.L423I	ENST00000553458.1	37	c.1267	CCDS9826.1	14	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285285	0.80803	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	T;T;T	0.78595	-1.19;-1.19;-1.19	5.77	5.77	0.91146	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.89111	0.6622	M	0.88842	2.985	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.66497	0.944;0.944	D	0.90641	0.4575	10	0.87932	D	0	.	15.1686	0.72850	0.0693:0.0:0.9307:0.0	.	410;423	B4DFS8;Q02252	.;MMSA_HUMAN	I	423;410;140	ENSP00000450436:L423I;ENSP00000342564:L410I;ENSP00000452081:L140I	ENSP00000342564:L423I	L	-	1	0	ALDH6A1	73601774	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.736000	0.68597	2.729000	0.93468	0.563000	0.77884	CTT	ALDH6A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	ENSG00000119711		0.418	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH6A1	HGNC	protein_coding	OTTHUMT00000412309.1	190	0.52	1	G			74532021	74532021	-1	no_errors	ENST00000553458	ensembl	human	known	69_37n	missense	133	29.63	56	SNP	1.000	T
ALG13	79868	genome.wustl.edu	37	X	111003084	111003084	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:111003084G>T	ENST00000394780.3	+	27	3283	c.3271G>T	c.(3271-3273)Gat>Tat	p.D1091Y	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.D908Y	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1091					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GGTTGTGCCAGATTATTCCTG	0.488																																						dbGAP											0													117.0	88.0	97.0					X																	111003084		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3271G>T	X.37:g.111003084G>T	ENSP00000378260:p.Asp1091Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.D908Y	ENST00000394780.3	37	c.2722	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	g	16.49	3.137477	0.56936	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.57273	1.45;0.41	5.8	5.8	0.92144	.	0.260791	0.37577	N	0.002030	T	0.63414	0.2509	L	0.50333	1.59	0.25035	N	0.991245	D;D;D	0.64830	0.986;0.989;0.994	P;P;P	0.62560	0.814;0.781;0.904	T	0.60084	-0.7332	10	0.72032	D	0.01	-12.6079	12.1229	0.53902	0.0809:0.0:0.9191:0.0	.	1013;1091;908	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	Y	908;1091;645	ENSP00000251943:D908Y;ENSP00000378260:D1091Y	ENSP00000251943:D908Y	D	+	1	0	ALG13	110889740	1.000000	0.71417	0.993000	0.49108	0.621000	0.37620	3.472000	0.53114	2.451000	0.82905	0.597000	0.82753	GAT	ALG13	-	NULL	ENSG00000101901		0.488	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	313	0.32	1	G	NM_018466		111003084	111003084	+1	no_errors	ENST00000251943	ensembl	human	known	69_37n	missense	199	14.22	33	SNP	1.000	T
ALG6	29929	genome.wustl.edu	37	1	63894396	63894396	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:63894396G>A	ENST00000494765.1	+	0	488				ALG6_ENST00000263440.4_Intron|ALG6_ENST00000371108.4_Intron			Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTTCTTTACGATTTTAGACC	0.259																																						dbGAP											0													58.0	59.0	59.0					1																	63894396		2189	4286	6475	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000494765.1:c.*485G>A	1.37:g.63894396G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMU2|Q5SXR9|Q9H3I0	RNA	SNP	-	NULL	ENST00000494765.1	37	NULL		1																																																																																			ALG6	-	-	ENSG00000088035		0.259	ALG6-004	KNOWN	basic	processed_transcript	ALG6	HGNC	protein_coding	OTTHUMT00000037174.1	607	0.00	0	G	NM_013339		63894396	63894396	+1	no_errors	ENST00000494765	ensembl	human	known	69_37n	rna	309	25.18	104	SNP	0.011	A
ALG9	79796	genome.wustl.edu	37	11	111709046	111709046	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:111709046G>A	ENST00000531154.1	-	11	1209	c.737C>T	c.(736-738)tCg>tTg	p.S246L	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.S239L	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	410					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CAGCCAATTCGATGTCACAGT	0.398																																						dbGAP											0													85.0	86.0	86.0					11																	111709046		1955	4140	6095	-	-	-	SO:0001583	missense	0				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.737C>T	11.37:g.111709046G>A	ENSP00000435517:p.Ser246Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.S246L	ENST00000531154.1	37	c.737	CCDS41714.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258582	0.80246	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.14144	2.56;2.53	5.88	5.88	0.94601	.	0.049430	0.85682	D	0.000000	T	0.30230	0.0758	L	0.37697	1.125	0.80722	D	1	D;B;D;B	0.76494	0.999;0.008;0.964;0.145	D;B;B;B	0.80764	0.994;0.007;0.307;0.057	T	0.00313	-1.1825	9	.	.	.	-13.1515	20.2241	0.98333	0.0:0.0:1.0:0.0	.	239;417;643;410	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	L	246;239;643	ENSP00000435517:S246L;ENSP00000381090:S239L	.	S	-	2	0	ALG9	111214256	1.000000	0.71417	0.100000	0.21137	0.911000	0.54048	9.703000	0.98714	2.785000	0.95823	0.655000	0.94253	TCG	ALG9	-	pfam_GPI_mannosylTrfase	ENSG00000086848		0.398	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1	223	0.00	0	G	NM_024740		111709046	111709046	-1	no_errors	ENST00000531154	ensembl	human	known	69_37n	missense	160	10.56	19	SNP	0.999	A
ALK	238	genome.wustl.edu	37	2	29430129	29430129	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:29430129G>A	ENST00000389048.3	-	26	4752	c.3846C>T	c.(3844-3846)taC>taT	p.Y1282Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCTTTCTATAGTAGCTCGCCC	0.483			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													67.0	64.0	65.0					2																	29430129		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3846C>T	2.37:g.29430129G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y1282	ENST00000389048.3	37	c.3846	CCDS33172.1	2																																																																																			ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000171094		0.483	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	73	0.00	0	G	NM_004304		29430129	29430129	-1	no_errors	ENST00000389048	ensembl	human	known	69_37n	silent	91	16.36	18	SNP	1.000	A
ALKBH8	91801	genome.wustl.edu	37	11	107396214	107396214	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:107396214C>T	ENST00000428149.2	-	9	1134	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	ALKBH8_ENST00000417449.2_Missense_Mutation_p.R331Q|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000389568.3_Missense_Mutation_p.R328Q	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	328	Alpha-ketoglutarate binding. {ECO:0000250}.|Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		AAATGATGTTCGTAGTCCCCT	0.353																																						dbGAP											0													134.0	110.0	117.0					11																	107396214		692	1591	2283	-	-	-	SO:0001583	missense	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.983G>A	11.37:g.107396214C>T	ENSP00000415885:p.Arg328Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.R331Q	ENST00000428149.2	37	c.992	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	C	33	5.264211	0.95399	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	D;D;D	0.96774	-4.12;-4.12;-4.12	5.83	5.83	0.93111	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	D	0.98858	0.9614	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99402	1.0928	10	0.87932	D	0	-27.6497	19.1114	0.93318	0.0:1.0:0.0:0.0	.	328;331	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	Q	328;328;331	ENSP00000415885:R328Q;ENSP00000374219:R328Q;ENSP00000397673:R331Q	ENSP00000374219:R328Q	R	-	2	0	ALKBH8	106901424	1.000000	0.71417	0.971000	0.41717	0.882000	0.50991	6.659000	0.74412	2.769000	0.95229	0.585000	0.79938	CGA	ALKBH8	-	NULL	ENSG00000137760		0.353	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	275	0.00	0	C	NM_138775		107396214	107396214	-1	no_errors	ENST00000417449	ensembl	human	known	69_37n	missense	156	22.00	44	SNP	0.994	T
ALKBH8	91801	genome.wustl.edu	37	11	107424591	107424591	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:107424591C>A	ENST00000428149.2	-	4	632	c.481G>T	c.(481-483)Gat>Tat	p.D161Y	ALKBH8_ENST00000417449.2_Missense_Mutation_p.D164Y|ALKBH8_ENST00000429370.1_Missense_Mutation_p.D161Y|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Missense_Mutation_p.D161Y	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	161					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTGTCTGTATCTTCTGTCCAA	0.358																																						dbGAP											0													77.0	68.0	71.0					11																	107424591		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.481G>T	11.37:g.107424591C>A	ENSP00000415885:p.Asp161Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.D164Y	ENST00000428149.2	37	c.490	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919341	0.33908	.	.	ENSG00000137760	ENST00000428149;ENST00000429370;ENST00000389568;ENST00000417449	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.6	3.39	0.38822	.	0.384779	0.30401	N	0.009704	T	0.35098	0.0920	L	0.50333	1.59	0.35862	D	0.827551	P	0.43607	0.812	P	0.49922	0.626	T	0.43925	-0.9361	10	0.51188	T	0.08	-31.2851	7.9492	0.30003	0.0:0.6985:0.1376:0.1638	.	161	Q96BT7	ALKB8_HUMAN	Y	161;161;161;164	ENSP00000415885:D161Y;ENSP00000391225:D161Y;ENSP00000374219:D161Y;ENSP00000397673:D164Y	ENSP00000260318:D161Y	D	-	1	0	ALKBH8	106929801	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	0.800000	0.27042	1.378000	0.46305	0.591000	0.81541	GAT	ALKBH8	-	NULL	ENSG00000137760		0.358	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	177	0.00	0	C	NM_138775		107424591	107424591	-1	no_errors	ENST00000417449	ensembl	human	known	69_37n	missense	101	22.90	30	SNP	0.920	A
ALLC	55821	genome.wustl.edu	37	2	3743393	3743393	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:3743393G>C	ENST00000252505.3	+	8	760	c.598G>C	c.(598-600)Gcc>Ccc	p.A200P	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	219					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGACCTAGTGGCCATCGCTTT	0.438										HNSCC(21;0.051)																												dbGAP											0													88.0	89.0	89.0					2																	3743393		1887	4098	5985	-	-	-	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.598G>C	2.37:g.3743393G>C	ENSP00000252505:p.Ala200Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.A200P	ENST00000252505.3	37	c.598	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145247	0.37825	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	-1.69	0.08186	Galactose-binding domain-like (1);	0.322325	0.36854	N	0.002377	T	0.51601	0.1684	M	0.89287	3.02	0.09310	N	0.999991	B	0.18741	0.03	B	0.22753	0.041	T	0.53816	-0.8385	9	0.72032	D	0.01	-8.8013	5.4654	0.16639	0.3989:0.0:0.4294:0.1717	.	219	Q8N6M5	ALLC_HUMAN	P	200	.	ENSP00000252505:A200P	A	+	1	0	ALLC	3721268	0.987000	0.35691	0.002000	0.10522	0.301000	0.27625	0.612000	0.24283	-0.181000	0.10619	-0.258000	0.10820	GCC	ALLC	-	superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.438	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	178	0.00	0	G			3743393	3743393	+1	no_errors	ENST00000252505	ensembl	human	known	69_37n	missense	209	12.92	31	SNP	0.001	C
ALMS1	7840	genome.wustl.edu	37	2	73651926	73651926	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:73651926A>C	ENST00000264448.6	+	5	1244	c.1133A>C	c.(1132-1134)gAa>gCa	p.E378A	ALMS1_ENST00000377715.1_Missense_Mutation_p.E378A|ALMS1_ENST00000409009.1_Missense_Mutation_p.E336A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	378					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAACTGATGAAAACATAGCT	0.363																																						dbGAP											0													83.0	77.0	79.0					2																	73651926		1878	4116	5994	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1133A>C	2.37:g.73651926A>C	ENSP00000264448:p.Glu378Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E378A	ENST00000264448.6	37	c.1133	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	4.014	0.000025	0.07819	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19938	3.01;3.0;2.11	4.02	2.87	0.33458	.	0.370767	0.19653	N	0.109159	T	0.22513	0.0543	L	0.36672	1.1	0.22305	N	0.99922	D;P	0.56035	0.974;0.95	P;P	0.52066	0.689;0.689	T	0.04752	-1.0929	10	0.87932	D	0	.	6.2211	0.20681	0.8872:0.0:0.1128:0.0	.	336;378	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	A	336;378;378	ENSP00000386627:E336A;ENSP00000264448:E378A;ENSP00000366944:E378A	ENSP00000264448:E378A	E	+	2	0	ALMS1	73505434	0.998000	0.40836	0.963000	0.40424	0.016000	0.09150	2.114000	0.41911	0.910000	0.36722	-0.385000	0.06624	GAA	ALMS1	-	NULL	ENSG00000116127		0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	181	0.00	0	A	NM_015120		73651926	73651926	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	108	15.50	20	SNP	0.972	C
ALMS1	7840	genome.wustl.edu	37	2	73675581	73675581	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:73675581G>A	ENST00000264448.6	+	8	2035	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E600K|ALMS1_ENST00000377715.1_Missense_Mutation_p.E642K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	642	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAACTTAACCGAAGAGCCTTT	0.478																																						dbGAP											0													103.0	102.0	102.0					2																	73675581		1864	4093	5957	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1924G>A	2.37:g.73675581G>A	ENSP00000264448:p.Glu642Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E642K	ENST00000264448.6	37	c.1924	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819140	0.32145	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16743	3.2;3.2;2.32	4.2	0.242	0.15498	.	0.623617	0.15251	N	0.272331	T	0.12817	0.0311	L	0.50333	1.59	0.09310	N	1	P;P;P	0.50617	0.824;0.893;0.937	B;B;B	0.41894	0.238;0.369;0.369	T	0.16424	-1.0403	10	0.33141	T	0.24	.	3.7103	0.08417	0.3165:0.1905:0.493:0.0	.	642;600;642	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	K	600;642;642	ENSP00000386627:E600K;ENSP00000264448:E642K;ENSP00000366944:E642K	ENSP00000264448:E642K	E	+	1	0	ALMS1	73529089	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.195000	0.17155	0.028000	0.15324	0.655000	0.94253	GAA	ALMS1	-	NULL	ENSG00000116127		0.478	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	139	0.00	0	G	NM_015120		73675581	73675581	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	78	23.53	24	SNP	0.000	A
ALMS1	7840	genome.wustl.edu	37	2	73676816	73676816	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:73676816G>T	ENST00000264448.6	+	8	3270	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1011D|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1053D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1053	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACAGAGGGAGAAGCCTAGTG	0.488																																						dbGAP											0													138.0	138.0	138.0					2																	73676816		1896	4118	6014	-	-	-	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3159G>T	2.37:g.73676816G>T	ENSP00000264448:p.Glu1053Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E1053D	ENST00000264448.6	37	c.3159	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329560	0.24167	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.18502	3.09;3.08;2.21	4.49	-0.649	0.11461	.	0.877118	0.09790	N	0.755488	T	0.29588	0.0738	L	0.54323	1.7	0.09310	N	1	B;D;B	0.89917	0.206;1.0;0.257	B;D;B	0.71656	0.147;0.974;0.084	T	0.15954	-1.0419	10	0.62326	D	0.03	.	4.7025	0.12834	0.2745:0.2553:0.4702:0.0	.	1053;1011;1053	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	D	1011;1053;1053	ENSP00000386627:E1011D;ENSP00000264448:E1053D;ENSP00000366944:E1053D	ENSP00000264448:E1053D	E	+	3	2	ALMS1	73530324	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	-0.906000	0.04071	-0.121000	0.11787	0.591000	0.81541	GAG	ALMS1	-	NULL	ENSG00000116127		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	170	0.00	0	G	NM_015120		73676816	73676816	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	missense	123	19.08	29	SNP	0.003	T
ALMS1	7840	genome.wustl.edu	37	2	73677668	73677668	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:73677668G>A	ENST00000264448.6	+	8	4122	c.4011G>A	c.(4009-4011)gaG>gaA	p.E1337E	ALMS1_ENST00000409009.1_Silent_p.E1295E|ALMS1_ENST00000377715.1_Silent_p.E1337E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1337	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACACACAGAGAAGCCTGGTG	0.453																																						dbGAP											0													126.0	126.0	126.0					2																	73677668		1850	4089	5939	-	-	-	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4011G>A	2.37:g.73677668G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.E1337	ENST00000264448.6	37	c.4011	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	104	0.00	0	G	NM_015120		73677668	73677668	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	silent	77	23.00	23	SNP	0.004	A
ALMS1P	200420	genome.wustl.edu	37	2	73901065	73901065	+	RNA	SNP	C	C	T	rs528493371		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:73901065C>T	ENST00000450720.1	+	0	863					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												ATGCGCTATTCGACATTGACA	0.532													.|||	1	0.000199681	0.0	0.0	5008	,	,		19304	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	72.0	75.0					2																	73901065		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73901065C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.532	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	124	0.00	0	C	NR_003683		73901065	73901065	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	63	31.52	29	SNP	0.622	T
ALOXE3	59344	genome.wustl.edu	37	17	8022084	8022084	+	5'Flank	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:8022084C>A	ENST00000448843.2	-	0	0				ALOXE3_ENST00000380149.1_5'Flank|ALOXE3_ENST00000318227.3_Missense_Mutation_p.A5S	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3						arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGTCTGAATGCCCCGCGTGGC	0.642											OREG0024155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													59.0	54.0	55.0					17																	8022084		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179		17.37:g.8022084C>A	Exception_encountered	Somatic	646	WXS	Illumina GAIIx	Phase_IV	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.A5S	ENST00000448843.2	37	c.13	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902619	0.33628	.	.	ENSG00000179148	ENST00000318227	T	0.74947	-0.89	3.79	-2.42	0.06542	.	.	.	.	.	T	0.48909	0.1526	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.34378	-0.9831	9	0.59425	D	0.04	.	4.4709	0.11712	0.0:0.3917:0.1643:0.444	.	5	B7Z3W0	.	S	5	ENSP00000314879:A5S	ENSP00000314879:A5S	A	-	1	0	ALOXE3	7962809	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.033000	0.03571	-0.388000	0.07797	-0.444000	0.05651	GCA	ALOXE3	-	NULL	ENSG00000179148		0.642	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	109	0.00	0	C			8022084	8022084	-1	no_errors	ENST00000318227	ensembl	human	known	69_37n	missense	31	20.00	8	SNP	0.000	A
ALPK2	115701	genome.wustl.edu	37	18	56203433	56203433	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:56203433G>T	ENST00000361673.3	-	5	4199	c.3986C>A	c.(3985-3987)tCt>tAt	p.S1329Y	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1329						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACCCCGGGAAGAAAGACTTCT	0.512																																						dbGAP											0													89.0	86.0	87.0					18																	56203433		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3986C>A	18.37:g.56203433G>T	ENSP00000354991:p.Ser1329Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S1329Y	ENST00000361673.3	37	c.3986	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	g	16.02	3.003033	0.54254	.	.	ENSG00000198796	ENST00000361673	T	0.56103	0.48	5.63	2.6	0.31112	.	2.410650	0.01160	N	0.006633	T	0.70245	0.3202	L	0.52573	1.65	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.921	T	0.55263	-0.8168	10	0.52906	T	0.07	-0.7415	12.9209	0.58232	0.0:0.486:0.514:0.0	.	1324;1329	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	Y	1329	ENSP00000354991:S1329Y	ENSP00000354991:S1329Y	S	-	2	0	ALPK2	54354413	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	0.426000	0.21363	0.680000	0.31366	0.457000	0.33378	TCT	ALPK2	-	NULL	ENSG00000198796		0.512	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	242	0.00	0	G	NM_052947		56203433	56203433	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	missense	128	29.67	54	SNP	0.001	T
ALPL	249	genome.wustl.edu	37	1	21902414	21902414	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:21902414T>C	ENST00000374840.3	+	10	1436	c.1186T>C	c.(1186-1188)Ttt>Ctt	p.F396L	ALPL_ENST00000425315.2_Missense_Mutation_p.F396L|ALPL_ENST00000540617.1_Missense_Mutation_p.F341L|ALPL_ENST00000374830.1_Missense_Mutation_p.F42L|ALPL_ENST00000539907.1_Missense_Mutation_p.F319L|ALPL_ENST00000374829.1_Missense_Mutation_p.F42L|ALPL_ENST00000374832.1_Missense_Mutation_p.F396L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	396					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CAACTCTATCTTTGGTAGGTG	0.597																																						dbGAP											0													100.0	98.0	99.0					1																	21902414		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1186T>C	1.37:g.21902414T>C	ENSP00000363973:p.Phe396Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.F396L	ENST00000374840.3	37	c.1186	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.860810	0.32884	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67;-3.67;-3.67	4.91	4.91	0.64330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.056176	0.64402	D	0.000001	D	0.89884	0.6844	N	0.05280	-0.08	0.80722	D	1	B;P;D	0.58268	0.338;0.875;0.982	B;P;P	0.57911	0.444;0.691;0.829	D	0.86820	0.2004	10	0.05959	T	0.93	4.7659	12.5123	0.56013	0.0:0.0:0.0:1.0	.	319;344;396	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	L	319;341;396;396;396;42;42	ENSP00000437674:F319L;ENSP00000442672:F341L;ENSP00000363973:F396L;ENSP00000363965:F396L;ENSP00000394765:F396L;ENSP00000363963:F42L;ENSP00000363962:F42L	ENSP00000363962:F42L	F	+	1	0	ALPL	21775001	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.031000	0.64134	1.850000	0.53721	0.459000	0.35465	TTT	ALPL	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000162551		0.597	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	80	0.00	0	T	NM_000478		21902414	21902414	+1	no_errors	ENST00000374832	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	C
ALS2CR11	151254	genome.wustl.edu	37	2	202352429	202352429	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:202352429C>T	ENST00000286195.3	-	15	1822	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.R1790Q|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	593										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TGAAACCATTCGACGACTTGT	0.363																																						dbGAP											0													284.0	270.0	275.0					2																	202352429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1778G>A	2.37:g.202352429C>T	ENSP00000286195:p.Arg593Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R593Q	ENST00000286195.3	37	c.1778	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834661	0.32421	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	T;T	0.18174	2.23;2.23	4.78	3.91	0.45181	.	0.000000	0.32970	N	0.005439	T	0.09774	0.0240	N	0.19112	0.55	0.80722	D	1	P;P	0.44690	0.841;0.841	B;B	0.36092	0.158;0.217	T	0.08911	-1.0699	10	0.87932	D	0	.	9.0256	0.36227	0.0:0.8993:0.0:0.1007	.	1790;593	E9PGG4;Q53TS8	.;AL2SA_HUMAN	Q	593;1790	ENSP00000286195:R593Q;ENSP00000409937:R1790Q	ENSP00000286195:R593Q	R	-	2	0	ALS2CR11	202060674	0.761000	0.28439	0.988000	0.46212	0.021000	0.10359	2.172000	0.42463	1.233000	0.43693	-0.263000	0.10527	CGA	ALS2CR11	-	NULL	ENSG00000155754		0.363	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	376	0.00	0	C	NM_152525		202352429	202352429	-1	no_errors	ENST00000286195	ensembl	human	known	69_37n	missense	215	19.78	53	SNP	0.941	T
ALS2CR11	151254	genome.wustl.edu	37	2	202358222	202358222	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:202358222C>A	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.E948*|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTATCTAATTCTATCACTTTG	0.373																																						dbGAP											0													53.0	41.0	45.0					2																	202358222		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+2395G>T	2.37:g.202358222C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E948*	ENST00000286195.3	37	c.2842	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.866885	0.97043	.	.	ENSG00000155754	ENST00000439140	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.7811	0.46377	0.0:0.9136:0.0:0.0864	.	.	.	.	X	948	.	ENSP00000409937:E948X	E	-	1	0	ALS2CR11	202066467	0.941000	0.31946	1.000000	0.80357	0.180000	0.23129	1.768000	0.38511	2.693000	0.91896	0.563000	0.77884	GAA	ALS2CR11	-	NULL	ENSG00000155754		0.373	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	81	0.00	0	C	NM_152525		202358222	202358222	-1	no_errors	ENST00000439140	ensembl	human	novel	69_37n	nonsense	35	16.67	7	SNP	1.000	A
ALS2CR12	130540	genome.wustl.edu	37	2	202207136	202207136	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:202207136G>A	ENST00000286190.5	-	6	527	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.L161F|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.L161F|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.L161F|ALS2CR12_ENST00000448967.1_5'UTR			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	161					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GCACAGCGGAGATCCATTTCA	0.478																																						dbGAP											0													156.0	128.0	137.0					2																	202207136		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.481C>T	2.37:g.202207136G>A	ENSP00000286190:p.Leu161Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.L161F	ENST00000286190.5	37	c.481	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	G	1.017	-0.686055	0.03328	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.59	-1.1	0.09872	.	1.361850	0.04946	N	0.459379	T	0.38188	0.1031	L	0.56769	1.78	0.09310	N	1	P;P	0.36837	0.571;0.571	B;B	0.34385	0.181;0.181	T	0.34502	-0.9826	10	0.37606	T	0.19	2.498	8.8245	0.35047	0.0:0.1281:0.259:0.6129	.	161;161	Q96Q35;G5E9S3	AL2SB_HUMAN;.	F	161	ENSP00000286190:L161F;ENSP00000385098:L161F;ENSP00000376086:L161F;ENSP00000412073:L161F	ENSP00000286190:L161F	L	-	1	0	ALS2CR12	201915381	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.006000	0.13152	-0.336000	0.08438	-0.270000	0.10280	CTC	ALS2CR12	-	superfamily_t-SNARE	ENSG00000155749		0.478	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	272	0.37	1	G	NM_139163		202207136	202207136	-1	no_errors	ENST00000286190	ensembl	human	known	69_37n	missense	204	13.56	32	SNP	0.000	A
ALS2CR11	151254	genome.wustl.edu	37	2	202358408	202358408	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:202358408C>A	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.E886*|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATTGGTGTTTCACTTGGCTCT	0.353																																						dbGAP											0													103.0	79.0	87.0					2																	202358408		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+2209G>T	2.37:g.202358408C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E886*	ENST00000286195.3	37	c.2656	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.430898	0.96150	.	.	ENSG00000155754	ENST00000439140	.	.	.	5.49	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.9685	0.35892	0.0:0.641:0.2786:0.0803	.	.	.	.	X	886	.	ENSP00000409937:E886X	E	-	1	0	ALS2CR11	202066653	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.341000	0.19909	0.755000	0.32990	0.563000	0.77884	GAA	ALS2CR11	-	NULL	ENSG00000155754		0.353	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	99	0.00	0	C	NM_152525		202358408	202358408	-1	no_errors	ENST00000439140	ensembl	human	novel	69_37n	nonsense	72	26.53	26	SNP	0.001	A
AMIGO1	57463	genome.wustl.edu	37	1	110050452	110050452	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:110050452G>T	ENST00000369864.4	-	2	1432	c.1083C>A	c.(1081-1083)ttC>ttA	p.F361L	AMIGO1_ENST00000369862.1_Missense_Mutation_p.F361L					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CGTGCAAGGTGAAATTGTGCA	0.512																																						dbGAP											0													179.0	150.0	160.0					1																	110050452		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1083C>A	1.37:g.110050452G>T	ENSP00000358880:p.Phe361Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like	p.F361L	ENST00000369864.4	37	c.1083	CCDS30795.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187069	0.38609	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.50001	0.76;0.76	6.17	5.27	0.74061	.	0.246550	0.32593	N	0.005900	T	0.23094	0.0558	L	0.49350	1.555	0.58432	D	0.999993	B	0.14438	0.01	B	0.06405	0.002	T	0.09662	-1.0664	10	0.21540	T	0.41	-4.7963	10.6239	0.45495	0.147:0.0:0.853:0.0	.	361	Q86WK6	AMGO1_HUMAN	L	361	ENSP00000358880:F361L;ENSP00000358878:F361L	ENSP00000358878:F361L	F	-	3	2	AMIGO1	109851975	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.935000	0.56560	1.635000	0.50512	0.655000	0.94253	TTC	AMIGO1	-	NULL	ENSG00000181754		0.512	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO1	HGNC	protein_coding	OTTHUMT00000032247.1	81	0.00	0	G	NM_020703		110050452	110050452	-1	no_errors	ENST00000369862	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	T
AMY2A	279	genome.wustl.edu	37	1	104166590	104166590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:104166590C>T	ENST00000414303.2	+	8	1268	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	AMY2A_ENST00000497748.1_3'UTR	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	402					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.R402*(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	CTGTGAACATCGATGGCGCCA	0.343																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											9.0	9.0	9.0					1																	104166590		1665	3373	5038	-	-	-	SO:0001587	stop_gained	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.1204C>T	1.37:g.104166590C>T	ENSP00000397582:p.Arg402*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJG1|Q9UBH3	Nonsense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R402*	ENST00000414303.2	37	c.1204	CCDS783.1	1	.	.	.	.	.	.	.	.	.	.	-	34	5.347456	0.95807	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	2.94	1.99	0.26369	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5171	0.39113	0.3781:0.6219:0.0:0.0	.	.	.	.	X	402	.	ENSP00000377509:R402X	R	+	1	2	AMY2A	103968113	0.999000	0.42202	0.992000	0.48379	0.892000	0.51952	1.860000	0.39428	0.540000	0.28808	0.305000	0.20034	CGA	AMY2A	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000243480		0.343	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	59	0.00	0	C	NM_000699		104166590	104166590	+1	no_errors	ENST00000414303	ensembl	human	known	69_37n	nonsense	38	28.30	15	SNP	1.000	T
AMY1C	278	genome.wustl.edu	37	1	104297390	104297390	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:104297390G>A	ENST00000370079.3	+	7	1119	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	352					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GGATTTACACGAGTAATGTCA	0.318																																						dbGAP											0													47.0	51.0	50.0					1																	104297390		2167	4196	6363	-	-	-	SO:0001583	missense	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"""amylase, alpha 1C; salivary"""	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1055G>A	1.37:g.104297390G>A	ENSP00000359096:p.Arg352Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R352Q	ENST00000370079.3	37	c.1055	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537039	0.45176	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	M	0.79475	2.455	0.80722	D	1	.	.	.	.	.	.	T	0.67130	-0.5748	7	0.40728	T	0.16	.	12.8048	0.57607	0.0:0.0:1.0:0.0	.	.	.	.	Q	352	.	ENSP00000359096:R352Q	R	+	2	0	AMY1C	104098913	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	5.757000	0.68766	1.239000	0.43787	0.184000	0.17185	CGA	AMY1C	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000187733		0.318	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	208	0.00	0	G	NM_001008219		104297390	104297390	+1	no_errors	ENST00000370079	ensembl	human	known	69_37n	missense	104	19.38	25	SNP	0.999	A
AMPD1	270	genome.wustl.edu	37	1	115218219	115218219	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:115218219C>A	ENST00000520113.2	-	12	1725	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	AMPD1_ENST00000369538.3_Missense_Mutation_p.K566N|AMPD1_ENST00000353928.6_Missense_Mutation_p.K537N			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	570					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGATGGATTCTTTTCCAATG	0.478																																						dbGAP											0													230.0	215.0	220.0					1																	115218219		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1710G>T	1.37:g.115218219C>A	ENSP00000430075:p.Lys570Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.K570N	ENST00000520113.2	37	c.1710	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285378	0.40394	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82167	-1.58;-1.58;-1.58	5.68	-4.43	0.03568	Adenosine/AMP deaminase (1);	0.208628	0.64402	N	0.000019	T	0.45478	0.1344	N	0.21142	0.635	0.51012	D	0.999908	B;B	0.11235	0.004;0.0	B;B	0.17098	0.017;0.008	T	0.05632	-1.0873	10	0.30078	T	0.28	-3.7265	4.1338	0.10160	0.0908:0.4924:0.2544:0.1624	.	566;537	Q5TF02;P23109	.;AMPD1_HUMAN	N	570;566;537	ENSP00000430075:K570N;ENSP00000358551:K566N;ENSP00000316520:K537N	ENSP00000316520:K537N	K	-	3	2	AMPD1	115019742	0.098000	0.21812	0.954000	0.39281	0.992000	0.81027	-0.412000	0.07132	-0.754000	0.04715	0.561000	0.74099	AAG	AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.478	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	280	0.00	0	C			115218219	115218219	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	missense	193	15.35	35	SNP	0.987	A
AMZ2P1	201283	genome.wustl.edu	37	17	62969614	62969614	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:62969614C>T	ENST00000430983.1	-	0	1035					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AGTGTCTGTTCGGAATACCGT	0.358																																						dbGAP											0																																										-	-	-			0			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969614C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-	ENSG00000214174		0.358	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	42	0.00	0	C	NM_153032		62969614	62969614	-1	no_errors	ENST00000397713	ensembl	human	known	69_37n	rna	38	13.64	6	SNP	0.722	T
ANAPC1	64682	genome.wustl.edu	37	2	112526921	112526921	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:112526921A>C	ENST00000341068.3	-	48	6554	c.5782T>G	c.(5782-5784)Ttg>Gtg	p.L1928V	MIR4771-1_ENST00000577758.1_RNA	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1928					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATCTCAGCAAAGCTCGCACT	0.473																																						dbGAP											0													23.0	21.0	21.0					2																	112526921		2199	4276	6475	-	-	-	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5782T>G	2.37:g.112526921A>C	ENSP00000339109:p.Leu1928Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.L1928V	ENST00000341068.3	37	c.5782	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021930	0.54576	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.73	2.36	0.29203	.	0.000000	0.39615	N	0.001307	T	0.52058	0.1711	L	0.34521	1.04	0.42482	D	0.992863	P	0.52842	0.956	P	0.62184	0.899	T	0.41288	-0.9517	9	0.21540	T	0.41	-17.6705	7.7978	0.29158	0.6996:0.0:0.3004:0.0	.	1928	Q9H1A4	APC1_HUMAN	V	1928	.	ENSP00000339109:L1928V	L	-	1	2	ANAPC1	112243392	0.712000	0.27916	0.998000	0.56505	0.998000	0.95712	1.192000	0.32150	0.280000	0.22209	0.459000	0.35465	TTG	ANAPC1	-	NULL	ENSG00000153107		0.473	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	69	0.00	0	A	NM_022662		112526921	112526921	-1	no_errors	ENST00000341068	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.996	C
ANGPTL3	27329	genome.wustl.edu	37	1	63063490	63063490	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:63063490C>A	ENST00000371129.3	+	1	333	c.253C>A	c.(253-255)Cta>Ata	p.L85I	DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	85					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TTTTTATGATCTATCGCTGCA	0.333																																						dbGAP											0													72.0	72.0	72.0					1																	63063490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.253C>A	1.37:g.63063490C>A	ENSP00000360170:p.Leu85Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLS0|B1ALJ0|B2RCW1	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L85I	ENST00000371129.3	37	c.253	CCDS622.1	1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108487	0.56291	.	.	ENSG00000132855	ENST00000371129	T	0.65364	-0.15	5.72	0.604	0.17547	.	0.123452	0.56097	D	0.000033	T	0.56978	0.2022	M	0.70275	2.135	0.46798	D	0.999205	D	0.63880	0.993	P	0.59487	0.858	T	0.56823	-0.7915	10	0.45353	T	0.12	.	5.7878	0.18343	0.1176:0.5433:0.0:0.3391	.	85	Q9Y5C1	ANGL3_HUMAN	I	85	ENSP00000360170:L85I	ENSP00000360170:L85I	L	+	1	2	ANGPTL3	62836078	0.970000	0.33590	0.241000	0.24154	0.780000	0.44128	1.518000	0.35877	-0.069000	0.12931	-0.143000	0.13931	CTA	ANGPTL3	-	NULL	ENSG00000132855		0.333	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL3	HGNC	protein_coding	OTTHUMT00000025344.1	169	0.00	0	C	NM_014495		63063490	63063490	+1	no_errors	ENST00000371129	ensembl	human	known	69_37n	missense	96	17.24	20	SNP	0.849	A
ANGPTL3	27329	genome.wustl.edu	37	1	63066746	63066746	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:63066746T>G	ENST00000371129.3	+	3	686				DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3						acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						TTATATTCTTTTATCAGCTCA	0.338																																						dbGAP											0													55.0	55.0	55.0					1																	63066746		2202	4293	6495	-	-	-	SO:0001627	intron_variant	0			AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.607-7T>G	1.37:g.63066746T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLS0|B1ALJ0|B2RCW1	RNA	SNP	-	NULL	ENST00000371129.3	37	NULL	CCDS622.1	1																																																																																			ANGPTL3	-	-	ENSG00000132855		0.338	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL3	HGNC	protein_coding	OTTHUMT00000025344.1	104	0.00	0	T	NM_014495		63066746	63066746	+1	no_errors	ENST00000482591	ensembl	human	known	69_37n	rna	43	17.31	9	SNP	0.923	G
ANGEL2	90806	genome.wustl.edu	37	1	213173739	213173739	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:213173739G>T	ENST00000366962.3	-	7	1416				ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000473303.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)											central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TAAGAATAGAGGAAAATATAT	0.348																																						dbGAP											0													106.0	99.0	101.0					1																	213173739		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1262-14C>A	1.37:g.213173739G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	RNA	SNP	-	NULL	ENST00000366962.3	37	NULL	CCDS1512.1	1																																																																																			ANGEL2	-	-	ENSG00000174606		0.348	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	264	0.00	0	G	NM_144567		213173739	213173739	-1	no_errors	ENST00000498650	ensembl	human	known	69_37n	rna	156	29.09	64	SNP	0.000	T
ANGPTL5	253935	genome.wustl.edu	37	11	101765736	101765736	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101765736A>C	ENST00000334289.3	-	8	1316	c.721T>G	c.(721-723)Ttt>Gtt	p.F241V		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	241	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TACAGCATAAAACTGGTATTT	0.279																																						dbGAP											0													64.0	66.0	66.0					11																	101765736		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.721T>G	11.37:g.101765736A>C	ENSP00000335255:p.Phe241Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K658|Q86VR9	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.F241V	ENST00000334289.3	37	c.721	CCDS8312.1	11	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607980	0.87258	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;D	0.97016	-1.43;-4.21	5.38	5.38	0.77491	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.77820	2.39	0.80722	D	1	D	0.63046	0.992	D	0.63033	0.91	D	0.98374	1.0555	10	0.72032	D	0.01	.	15.4155	0.74962	1.0:0.0:0.0:0.0	.	241	Q86XS5	ANGL5_HUMAN	V	241;176	ENSP00000335255:F241V;ENSP00000433562:F176V	ENSP00000335255:F241V	F	-	1	0	ANGPTL5	101270946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.354000	0.90080	2.027000	0.59764	0.528000	0.53228	TTT	ANGPTL5	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000187151		0.279	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	203	0.00	0	A	NM_178127		101765736	101765736	-1	no_errors	ENST00000334289	ensembl	human	known	69_37n	missense	108	23.94	34	SNP	1.000	C
ANK1	286	genome.wustl.edu	37	8	41574525	41574525	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:41574525C>T	ENST00000347528.4	-	13	1433	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	ANK1_ENST00000379758.2_Silent_p.T450T|ANK1_ENST00000265709.8_Silent_p.T483T|ANK1_ENST00000396942.1_Silent_p.T450T|ANK1_ENST00000289734.7_Silent_p.T450T|ANK1_ENST00000352337.4_Silent_p.T450T|ANK1_ENST00000396945.1_Silent_p.T450T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	450	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCACTTCCGTGTGCCCGG	0.473																																						dbGAP											0													224.0	198.0	207.0					8																	41574525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1350G>A	8.37:g.41574525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.T450	ENST00000347528.4	37	c.1350	CCDS6119.1	8																																																																																			ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.473	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	167	0.00	0	C	NM_020475		41574525	41574525	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	silent	93	13.08	14	SNP	0.034	T
ANK2	287	genome.wustl.edu	37	4	114277368	114277368	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:114277368G>T	ENST00000357077.4	+	38	7647	c.7594G>T	c.(7594-7596)Ggg>Tgg	p.G2532W	ANK2_ENST00000264366.6_Missense_Mutation_p.G2499W|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2532					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAGAGCTCAGGGAAGAGCCC	0.547																																						dbGAP											0													98.0	101.0	100.0					4																	114277368		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.7594G>T	4.37:g.114277368G>T	ENSP00000349588:p.Gly2532Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G2532W	ENST00000357077.4	37	c.7594	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405599	0.83230	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	D;D	0.93763	-3.26;-3.28	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000020	D	0.96664	0.8911	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95793	0.8826	9	.	.	.	.	20.1511	0.98086	0.0:0.0:1.0:0.0	.	2499;2532	Q01484;Q01484-4	ANK2_HUMAN;.	W	2532;2499	ENSP00000349588:G2532W;ENSP00000264366:G2499W	.	G	+	1	0	ANK2	114496817	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	7.848000	0.86902	2.778000	0.95560	0.655000	0.94253	GGG	ANK2	-	NULL	ENSG00000145362		0.547	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	127	0.00	0	G	NM_001148		114277368	114277368	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	99	11.61	13	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114277951	114277951	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:114277951C>A	ENST00000357077.4	+	38	8230	c.8177C>A	c.(8176-8178)aCt>aAt	p.T2726N	ANK2_ENST00000264366.6_Missense_Mutation_p.T2693N|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2726					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATGAAGATACTCAGGAAGAG	0.423																																						dbGAP											0													73.0	73.0	73.0					4																	114277951		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8177C>A	4.37:g.114277951C>A	ENSP00000349588:p.Thr2726Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.T2726N	ENST00000357077.4	37	c.8177	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	5.606	0.296644	0.10622	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66099	-0.18;-0.19	6.03	-3.4	0.04853	.	0.887861	0.09618	N	0.777913	T	0.41926	0.1180	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.24119	-1.0169	9	.	.	.	.	0.9389	0.01351	0.2988:0.322:0.1415:0.2377	.	2693;2726	Q01484;Q01484-4	ANK2_HUMAN;.	N	2726;2693	ENSP00000349588:T2726N;ENSP00000264366:T2693N	.	T	+	2	0	ANK2	114497400	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.580000	0.05827	-0.625000	0.05604	-0.940000	0.02684	ACT	ANK2	-	NULL	ENSG00000145362		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	163	0.00	0	C	NM_001148		114277951	114277951	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	107	19.55	26	SNP	0.000	A
ANK2	287	genome.wustl.edu	37	4	114290938	114290938	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:114290938G>A	ENST00000357077.4	+	43	11640	c.11587G>A	c.(11587-11589)Gat>Aat	p.D3863N	ANK2_ENST00000264366.6_Missense_Mutation_p.D3830N|ANK2_ENST00000394537.3_Missense_Mutation_p.D1778N|ANK2_ENST00000510275.2_Missense_Mutation_p.D430N|ANK2_ENST00000509550.1_Missense_Mutation_p.D954N|ANK2_ENST00000506722.1_Missense_Mutation_p.D1769N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3863					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAAGACTCGATGAAGATGC	0.483																																						dbGAP											0													92.0	84.0	87.0					4																	114290938		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11587G>A	4.37:g.114290938G>A	ENSP00000349588:p.Asp3863Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D3863N	ENST00000357077.4	37	c.11587	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.986654|1.986654	0.35036|0.35036	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960	T;T;T;T;T;D;D|.	0.96073|.	-0.22;-0.2;-0.25;-0.26;-0.98;-2.02;-3.9|.	5.63|5.63	2.98|2.98	0.34508|0.34508	.|.	1.070410|.	0.07316|.	N|.	0.876678|.	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;P;B;P;B|.	0.49358|.	0.059;0.001;0.923;0.0;0.857;0.007|.	B;B;B;B;B;B|.	0.39419|.	0.01;0.002;0.27;0.0;0.299;0.008|.	T|T	0.35226|0.35226	-0.9797|-0.9797	10|5	0.30854|.	T|.	0.27|.	.|.	1.5801|1.5801	0.02633|0.02633	0.2281:0.1262:0.473:0.1727|0.2281:0.1262:0.473:0.1727	.|.	954;813;779;1778;3863;1769|.	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.|.	N|Q	1769;813;1778;3863;3830;1769;954;430;873|779	ENSP00000421067:D1769N;ENSP00000378044:D1778N;ENSP00000349588:D3863N;ENSP00000264366:D3830N;ENSP00000426944:D954N;ENSP00000421023:D430N;ENSP00000422498:D873N|.	ENSP00000264366:D3830N|.	D|R	+|+	1|2	0|0	ANK2|ANK2	114510387|114510387	0.031000|0.031000	0.19500|0.19500	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.561000|0.561000	0.23515|0.23515	0.410000|0.410000	0.25675|0.25675	-0.929000|-0.929000	0.02709|0.02709	GAT|CGA	ANK2	-	NULL	ENSG00000145362		0.483	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	181	0.00	0	G	NM_001148		114290938	114290938	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	119	22.08	34	SNP	0.000	A
ANK3	288	genome.wustl.edu	37	10	61830574	61830574	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:61830574G>T	ENST00000280772.2	-	37	10256	c.10065C>A	c.(10063-10065)tcC>tcA	p.S3355S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3355					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTTCTGGTTGGAAGCCTTTT	0.388																																						dbGAP											0													154.0	153.0	153.0					10																	61830574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10065C>A	10.37:g.61830574G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S3355	ENST00000280772.2	37	c.10065	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	358	0.00	0	G	NM_020987		61830574	61830574	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	silent	231	24.39	80	SNP	0.053	T
ANK3	288	genome.wustl.edu	37	10	61832853	61832853	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:61832853G>A	ENST00000280772.2	-	37	7977	c.7786C>T	c.(7786-7788)Cgt>Tgt	p.R2596C	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2596					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTTGTCACGAAAAAACTGT	0.418																																						dbGAP											0													108.0	102.0	104.0					10																	61832853		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7786C>T	10.37:g.61832853G>A	ENSP00000280772:p.Arg2596Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R2596C	ENST00000280772.2	37	c.7786	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202574	0.58234	.	.	ENSG00000151150	ENST00000280772	T	0.74526	-0.85	5.66	5.66	0.87406	.	0.000000	0.42420	D	0.000701	T	0.82263	0.4999	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83552	0.0102	10	0.87932	D	0	.	19.7366	0.96208	0.0:0.0:1.0:0.0	.	2596	Q12955	ANK3_HUMAN	C	2596	ENSP00000280772:R2596C	ENSP00000280772:R2596C	R	-	1	0	ANK3	61502859	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.383000	0.66219	2.667000	0.90743	0.462000	0.41574	CGT	ANK3	-	NULL	ENSG00000151150		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	60	0.00	0	G	NM_020987		61832853	61832853	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61844966	61844966	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:61844966G>T	ENST00000280772.2	-	31	3985	c.3794C>A	c.(3793-3795)cCt>cAt	p.P1265H	ANK3_ENST00000503366.1_Missense_Mutation_p.P1266H|ANK3_ENST00000355288.2_Missense_Mutation_p.P399H|ANK3_ENST00000373827.2_Missense_Mutation_p.P1259H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1265	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAACGTCAAAGGAGTTGTTCC	0.398																																						dbGAP											0													79.0	75.0	76.0					10																	61844966		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3794C>A	10.37:g.61844966G>T	ENSP00000280772:p.Pro1265His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P1265H	ENST00000280772.2	37	c.3794	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737671	0.89573	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	6.17	6.17	0.99709	.	0.000000	0.41823	D	0.000807	T	0.62539	0.2436	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;1.0;0.999;0.999;0.994	D;D;P;D;P;D;P	0.83275	0.968;0.979;0.807;0.996;0.879;0.976;0.819	T	0.67476	-0.5661	10	0.87932	D	0	.	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	1266;399;798;1259;1265;500;399	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	H	1265;1259;399;399;1266;1245;500;900;900;398;798	ENSP00000280772:P1265H;ENSP00000362933:P1259H;ENSP00000347436:P399H;ENSP00000425236:P1266H	ENSP00000280772:P1265H	P	-	2	0	ANK3	61514972	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.002000	0.88514	2.941000	0.99782	0.655000	0.94253	CCT	ANK3	-	NULL	ENSG00000151150		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	147	0.00	0	G	NM_020987		61844966	61844966	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	112	12.50	16	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61894114	61894114	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:61894114G>A	ENST00000280772.2	-	25	2947	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L	ANK3_ENST00000503366.1_Missense_Mutation_p.S920L|ANK3_ENST00000355288.2_Missense_Mutation_p.S53L|ANK3_ENST00000373827.2_Missense_Mutation_p.S913L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	919					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGACCTATCCGAACTGAAGGA	0.403																																						dbGAP											0													108.0	88.0	95.0					10																	61894114		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2756C>T	10.37:g.61894114G>A	ENSP00000280772:p.Ser919Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S919L	ENST00000280772.2	37	c.2756	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167551	0.78339	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049;ENST00000506635	T;T;T;T;T;T;T	0.67698	-0.28;2.25;2.25;2.25;2.25;2.25;2.25	6.07	6.07	0.98685	.	0.000000	0.36740	N	0.002430	T	0.81564	0.4849	M	0.64567	1.98	0.80722	D	1	B;D;P;B;D;B;D	0.89917	0.2;0.974;0.474;0.014;1.0;0.375;0.997	B;B;B;B;D;B;D	0.79108	0.047;0.231;0.057;0.003;0.992;0.03;0.968	T	0.81313	-0.0989	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	920;53;441;913;919;154;53	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	L	919;913;53;53;920;899;154;554;554;52;441;44;44;44	ENSP00000280772:S919L;ENSP00000362933:S913L;ENSP00000347436:S53L;ENSP00000425236:S920L;ENSP00000362921:S44L;ENSP00000426582:S44L;ENSP00000422506:S44L	ENSP00000280772:S919L	S	-	2	0	ANK3	61564120	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCG	ANK3	-	NULL	ENSG00000151150		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	308	0.00	0	G	NM_020987		61894114	61894114	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	163	24.54	53	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61965607	61965607	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:61965607T>C	ENST00000280772.2	-	11	1427	c.1236A>G	c.(1234-1236)cgA>cgG	p.R412R	ANK3_ENST00000503366.1_Silent_p.R395R|ANK3_ENST00000373827.2_Silent_p.R406R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	412					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTACTTTAATTCGATTCTTCT	0.423																																						dbGAP											0													132.0	115.0	121.0					10																	61965607		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1236A>G	10.37:g.61965607T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R412	ENST00000280772.2	37	c.1236	CCDS7258.1	10																																																																																			ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	298	0.00	0	T	NM_020987		61965607	61965607	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	silent	237	12.87	35	SNP	0.987	C
ANKFY1	51479	genome.wustl.edu	37	17	4111374	4111374	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:4111374C>T	ENST00000341657.4	-	6	621	c.586G>A	c.(586-588)Gac>Aac	p.D196N	ANKFY1_ENST00000570535.1_Missense_Mutation_p.D238N|ANKFY1_ENST00000574367.1_Missense_Mutation_p.D196N|ANKFY1_ENST00000433651.1_Missense_Mutation_p.D196N	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	196					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTCCTCAGGTCGTCCTGAGAA	0.453																																						dbGAP											0													107.0	101.0	103.0					17																	4111374		1951	4160	6111	-	-	-	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.586G>A	17.37:g.4111374C>T	ENSP00000343362:p.Asp196Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.D238N	ENST00000341657.4	37	c.712		17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648857	0.87958	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.52057	0.87;0.68	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	L	0.31578	0.945	0.80722	D	1	D;D;P;P;P	0.89917	1.0;0.999;0.871;0.921;0.954	D;P;B;B;B	0.83275	0.996;0.894;0.256;0.441;0.311	T	0.56481	-0.7972	10	0.38643	T	0.18	-30.613	18.0755	0.89426	0.0:1.0:0.0:0.0	.	137;196;196;196;238	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	N	196;137;196	ENSP00000343362:D196N;ENSP00000416005:D196N	ENSP00000343362:D196N	D	-	1	0	ANKFY1	4058123	1.000000	0.71417	0.999000	0.59377	0.358000	0.29455	7.769000	0.85360	2.519000	0.84933	0.655000	0.94253	GAC	ANKFY1	-	NULL	ENSG00000185722		0.453	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	124	0.00	0	C	NM_016376		4111374	4111374	-1	no_errors	ENST00000570535	ensembl	human	known	69_37n	missense	78	15.22	14	SNP	1.000	T
ANKHD1	54882	genome.wustl.edu	37	5	139876702	139876702	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:139876702C>A	ENST00000360839.2	+	15	2997	c.2843C>A	c.(2842-2844)tCt>tAt	p.S948Y	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S948Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S948Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	948						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAAATTCTCTTGAACTT	0.428																																						dbGAP											0													130.0	131.0	131.0					5																	139876702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2843C>A	5.37:g.139876702C>A	ENSP00000354085:p.Ser948Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.S948Y	ENST00000360839.2	37	c.2843	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230121	0.58777	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.67865	-0.25;-0.29;-0.18;-0.29	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.121924	0.64402	D	0.000020	T	0.73218	0.3559	L	0.43152	1.355	0.58432	D	0.999999	P;D;D	0.56968	0.763;0.978;0.978	P;P;P	0.54664	0.533;0.758;0.758	T	0.73701	-0.3900	10	0.56958	D	0.05	.	19.9803	0.97323	0.0:1.0:0.0:0.0	.	948;948;948	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	Y	948;981;948;948;482;967;948	ENSP00000354085:S948Y;ENSP00000297183:S948Y;ENSP00000394489:S967Y;ENSP00000432016:S948Y	ENSP00000432016:S948Y	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139856886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.790000	0.55461	2.718000	0.92993	0.591000	0.81541	TCT	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.428	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	99	0.00	0	C	NM_017747		139876702	139876702	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	A
ANKRD10	55608	genome.wustl.edu	37	13	111545431	111545432	+	Nonsense_Mutation	DNP	CG	CG	TA			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:111545431_111545432CG>TA	ENST00000267339.2	-	4	768_769	c.634_635CG>TA	c.(634-636)CGa>TAa	p.R212*	ANKRD10_ENST00000310847.4_3'UTR|ANKRD10_ENST00000375758.5_3'UTR|ANKRD10-IT1_ENST00000426991.1_RNA|ANKRD10_ENST00000489973.2_5'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	212										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GCATCTCTTTCGATTTGTTCCC	0.406																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.634_635delinsTA	13.37:g.111545431_111545432delinsTA	ENSP00000267339:p.Arg212*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW12|Q9BV12	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R212Q|p.R212*	ENST00000267339.2	37	c.635|c.634	CCDS9520.1	13																																																																																			ANKRD10	-	NULL	ENSG00000088448		0.406	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD10	HGNC	protein_coding	OTTHUMT00000045783.1	284|280	0.00	0	C|G			111545431|111545432	111545431|111545432	-1	no_errors	ENST00000267339	ensembl	human	known	69_37n	missense|nonsense	196|187	12.11|15.38	27|34	SNP	1.000	T|A
ANKRD12	23253	genome.wustl.edu	37	18	9254427	9254427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:9254427G>T	ENST00000262126.4	+	9	1402	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E365*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E365*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	388						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAACGAAAAGAAAATGAACC	0.323																																						dbGAP											0													79.0	85.0	83.0					18																	9254427		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1162G>T	18.37:g.9254427G>T	ENSP00000262126:p.Glu388*	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E388*	ENST00000262126.4	37	c.1162	CCDS11843.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.650349|5.650349	0.96714|0.96714	.|.	.|.	ENSG00000101745|ENSG00000101745	ENST00000546007|ENST00000383440;ENST00000262126;ENST00000359158	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.188645	.|0.50627	.|D	.|0.000104	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.49607	.|T	.|0.09	.|-29.336	13.3878|13.3878	0.60805|0.60805	0.0716:0.0:0.9284:0.0|0.0716:0.0:0.9284:0.0	.|.	.|.	.|.	.|.	.|X	-1|365;388;95	.|.	.|ENSP00000262126:E388X	.|E	+|+	.|1	.|0	ANKRD12|ANKRD12	9244427|9244427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.618000|4.618000	0.61211|0.61211	2.771000|2.771000	0.95319|0.95319	0.650000|0.650000	0.86243|0.86243	.|GAA	ANKRD12	-	NULL	ENSG00000101745		0.323	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	148	0.00	0	G	NM_015208		9254427	9254427	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	nonsense	151	17.49	32	SNP	1.000	T
ANKRD12	23253	genome.wustl.edu	37	18	9256080	9256080	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:9256080G>A	ENST00000262126.4	+	9	3055	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D916N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D916N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	939						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TAAACAATCAGATAATAGTGA	0.299																																						dbGAP											0													27.0	28.0	28.0					18																	9256080		2181	4273	6454	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2815G>A	18.37:g.9256080G>A	ENSP00000262126:p.Asp939Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D939N	ENST00000262126.4	37	c.2815	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675388	0.67928	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.36157	1.27;1.27	5.55	5.55	0.83447	.	0.105065	0.64402	D	0.000005	T	0.35335	0.0928	N	0.24115	0.695	0.48901	D	0.999723	P;P	0.46142	0.873;0.799	P;B	0.47346	0.544;0.343	T	0.03212	-1.1060	10	0.30078	T	0.28	-20.4689	19.5021	0.95100	0.0:0.0:1.0:0.0	.	916;939	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	N	916;939	ENSP00000372932:D916N;ENSP00000262126:D939N	ENSP00000262126:D939N	D	+	1	0	ANKRD12	9246080	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	9.397000	0.97276	2.606000	0.88127	0.557000	0.71058	GAT	ANKRD12	-	NULL	ENSG00000101745		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	219	0.00	0	G	NM_015208		9256080	9256080	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	164	23.00	49	SNP	1.000	A
ANKRD17	26057	genome.wustl.edu	37	4	73959889	73959889	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:73959889C>T	ENST00000358602.4	-	28	5350	c.5234G>A	c.(5233-5235)gGc>gAc	p.G1745D	ANKRD17_ENST00000330838.6_Missense_Mutation_p.G1494D|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G1632D	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1745	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATATTACAGCCTCCTCTTCC	0.348																																						dbGAP											0													162.0	151.0	155.0					4																	73959889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5234G>A	4.37:g.73959889C>T	ENSP00000351416:p.Gly1745Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.G1745D	ENST00000358602.4	37	c.5234	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	30	5.051879	0.93793	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	D;D;D	0.94184	-3.37;-3.37;-3.37	5.52	5.52	0.82312	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.64402	D	0.000006	D	0.98160	0.9392	H	0.97758	4.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.99308	1.0903	10	0.87932	D	0	.	19.4499	0.94862	0.0:1.0:0.0:0.0	.	1744;1494;1745;1632	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	D	1745;1152;1494;1632;129	ENSP00000351416:G1745D;ENSP00000332265:G1494D;ENSP00000427151:G1632D	ENSP00000332265:G1494D	G	-	2	0	ANKRD17	74178753	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.416000	0.80143	2.582000	0.87167	0.585000	0.79938	GGC	ANKRD17	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000132466		0.348	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	580	0.00	0	C	NM_032217		73959889	73959889	-1	no_errors	ENST00000358602	ensembl	human	known	69_37n	missense	317	23.19	96	SNP	1.000	T
ANKRD18B	441459	genome.wustl.edu	37	9	33548190	33548190	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:33548190G>T	ENST00000290943.6	+	9	1314	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	406										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TGAAAGCTGAGAATGCAAGGC	0.358																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.1218G>T	9.37:g.33548190G>T	ENSP00000290943:p.Glu406Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E406D	ENST00000290943.6	37	c.1218		9	.	.	.	.	.	.	.	.	.	.	g	8.881	0.951575	0.18431	.	.	ENSG00000230453	ENST00000290943	T	0.39229	1.09	1.61	-0.384	0.12474	.	.	.	.	.	T	0.38374	0.1038	.	.	.	0.23036	N	0.998398	.	.	.	.	.	.	T	0.47861	-0.9084	5	0.54805	T	0.06	.	5.5292	0.16974	0.348:0.0:0.652:0.0	.	.	.	.	D	406	ENSP00000290943:E406D	ENSP00000290943:E406D	E	+	3	2	ANKRD18B	33538190	1.000000	0.71417	0.029000	0.17559	0.079000	0.17450	1.444000	0.35068	-0.124000	0.11724	0.298000	0.19748	GAG	ANKRD18B	-	NULL	ENSG00000230453		0.358	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	429	0.00	0	G	XM_001718334		33548190	33548190	+1	no_errors	ENST00000290943	ensembl	human	known	69_37n	missense	265	30.99	119	SNP	0.956	T
ANKRD18B	441459	genome.wustl.edu	37	9	33558170	33558170	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:33558170G>A	ENST00000290943.6	+	12	2355	c.2259G>A	c.(2257-2259)aaG>aaA	p.K753K		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	753										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TTCTGTTTAAGAAGCTAAAAC	0.303																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.2259G>A	9.37:g.33558170G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K753	ENST00000290943.6	37	c.2259		9																																																																																			ANKRD18B	-	NULL	ENSG00000230453		0.303	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	160	0.00	0	G	XM_001718334		33558170	33558170	+1	no_errors	ENST00000290943	ensembl	human	known	69_37n	silent	55	34.52	29	SNP	0.001	A
ANKRD18A	253650	genome.wustl.edu	37	9	38575693	38575693	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:38575693G>A	ENST00000399703.5	-	15	3118	c.2744C>T	c.(2743-2745)tCg>tTg	p.S915L	ANKRD18A_ENST00000313339.3_Missense_Mutation_p.S36L|ANKRD18A_ENST00000566717.2_Missense_Mutation_p.S53L|ANKRD18A_ENST00000357072.5_5'UTR|ANKRD18A_ENST00000607974.1_Missense_Mutation_p.S36L	NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	915										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTTCTTATCCGATCTGTAAAG	0.373																																						dbGAP											0													50.0	48.0	49.0					9																	38575693		692	1591	2283	-	-	-	SO:0001583	missense	0			AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.2744C>T	9.37:g.38575693G>A	ENSP00000382610:p.Ser915Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S915L	ENST00000399703.5	37	c.2744	CCDS55311.1	9	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580850	0.28180	.	.	ENSG00000180071	ENST00000313339;ENST00000357072;ENST00000399703	T;T	0.31769	1.48;1.48	1.4	1.4	0.22301	.	.	.	.	.	T	0.38558	0.1045	M	0.72479	2.2	0.09310	N	1	P;P	0.52692	0.955;0.955	P;P	0.50490	0.46;0.642	T	0.19976	-1.0289	9	0.66056	D	0.02	.	6.2663	0.20928	0.0:0.0:1.0:0.0	.	36;915	Q6QA70;Q8IVF6	.;AN18A_HUMAN	L	36;36;915	ENSP00000326555:S36L;ENSP00000382610:S915L	ENSP00000326555:S36L	S	-	2	0	ANKRD18A	38565693	0.003000	0.15002	0.006000	0.13384	0.038000	0.13279	0.523000	0.22925	1.086000	0.41228	0.194000	0.17425	TCG	ANKRD18A	-	pfam_DUF3496	ENSG00000180071		0.373	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD18A	HGNC	protein_coding	OTTHUMT00000052506.3	233	0.00	0	G			38575693	38575693	-1	no_errors	ENST00000399703	ensembl	human	known	69_37n	missense	157	11.80	21	SNP	0.002	A
ANKRD24	170961	genome.wustl.edu	37	19	4207815	4207815	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:4207815G>A	ENST00000600132.1	+	10	958	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	ANKRD24_ENST00000262970.5_Missense_Mutation_p.E318K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E228K|RN7SL84P_ENST00000578969.1_RNA	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	228										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGCCAGCCCCGAAACAGTGGA	0.687											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													12.0	14.0	13.0					19																	4207815		1902	4098	6000	-	-	-	SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.682G>A	19.37:g.4207815G>A	ENSP00000471252:p.Glu228Lys	Somatic	617	WXS	Illumina GAIIx	Phase_IV	O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E318K	ENST00000600132.1	37	c.952	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076901	0.76415	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.68479	-0.33;-0.33	4.86	4.86	0.63082	Ankyrin repeat-containing domain (3);	0.294056	0.18628	N	0.135641	T	0.73442	0.3587	L	0.33137	0.985	0.45076	D	0.998097	D;P	0.89917	1.0;0.853	D;B	0.87578	0.998;0.393	T	0.75479	-0.3303	10	0.72032	D	0.01	-11.5603	13.529	0.61611	0.0:0.0:1.0:0.0	.	228;318	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	K	228;318	ENSP00000321731:E228K;ENSP00000262970:E318K	ENSP00000262970:E318K	E	+	1	0	ANKRD24	4158815	1.000000	0.71417	0.866000	0.34008	0.791000	0.44710	8.095000	0.89535	2.262000	0.75019	0.456000	0.33151	GAA	ANKRD24	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000089847		0.687	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	83	0.00	0	G	XM_114000		4207815	4207815	+1	no_errors	ENST00000262970	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.996	A
ANKRD26	22852	genome.wustl.edu	37	10	27329051	27329051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27329051C>A	ENST00000376087.4	-	21	2383	c.2218G>T	c.(2218-2220)Gaa>Taa	p.E740*	ANKRD26_ENST00000376070.3_Nonsense_Mutation_p.E297*|ANKRD26_ENST00000436985.2_Nonsense_Mutation_p.E756*	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E740K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTAAGTTCTAATAATCTT	0.299																																						dbGAP											1	Substitution - Missense(1)	lung(1)											70.0	61.0	64.0					10																	27329051		1798	4067	5865	-	-	-	SO:0001587	stop_gained	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2218G>T	10.37:g.27329051C>A	ENSP00000365255:p.Glu740*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Nonsense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E756*	ENST00000376087.4	37	c.2266	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.382435	0.98248	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	5.18	3.34	0.38264	.	0.112714	0.37669	N	0.001994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	5.7441	0.18110	0.0:0.6647:0.1599:0.1754	.	.	.	.	X	297;740;756	.	ENSP00000365238:E297X	E	-	1	0	ANKRD26	27369057	0.999000	0.42202	0.019000	0.16419	0.960000	0.62799	0.778000	0.26732	0.683000	0.31428	0.585000	0.79938	GAA	ANKRD26	-	NULL	ENSG00000107890		0.299	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	127	0.00	0	C			27329051	27329051	-1	no_errors	ENST00000436985	ensembl	human	known	69_37n	nonsense	124	13.89	20	SNP	0.078	A
ANKRD26	22852	genome.wustl.edu	37	10	27366454	27366454	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27366454C>T	ENST00000376087.4	-	9	1055	c.890G>A	c.(889-891)gGc>gAc	p.G297D	ANKRD26_ENST00000466890.1_5'UTR|ANKRD26_ENST00000436985.2_Missense_Mutation_p.G346D	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	297					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTCACAGTGCCATATGTTGC	0.323																																						dbGAP											0													180.0	154.0	162.0					10																	27366454		1846	4095	5941	-	-	-	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.890G>A	10.37:g.27366454C>T	ENSP00000365255:p.Gly297Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G346D	ENST00000376087.4	37	c.1037	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	C	6.905	0.536551	0.13188	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.29917	1.58;1.55	5.32	-4.14	0.03892	.	.	.	.	.	T	0.25606	0.0623	L	0.56769	1.78	0.09310	N	1	B;B;B	0.13594	0.008;0.005;0.005	B;B;B	0.13407	0.009;0.004;0.004	T	0.32402	-0.9908	9	0.52906	T	0.07	.	7.3144	0.26493	0.0:0.331:0.122:0.547	.	297;297;346	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	D	297;346	ENSP00000365255:G297D;ENSP00000405112:G346D	ENSP00000365255:G297D	G	-	2	0	ANKRD26	27406460	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-0.289000	0.08365	-0.930000	0.03752	0.491000	0.48974	GGC	ANKRD26	-	NULL	ENSG00000107890		0.323	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	433	0.00	0	C			27366454	27366454	-1	no_errors	ENST00000436985	ensembl	human	known	69_37n	missense	359	15.73	67	SNP	0.000	T
ANKRD27	84079	genome.wustl.edu	37	19	33134361	33134361	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:33134361C>A	ENST00000306065.4	-	7	773	c.615G>T	c.(613-615)atG>atT	p.M205I	ANKRD27_ENST00000587352.1_Missense_Mutation_p.M205I	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	205					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCATCAGGTTCATCTGGGCCT	0.577																																						dbGAP											0													164.0	171.0	168.0					19																	33134361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.615G>T	19.37:g.33134361C>A	ENSP00000304292:p.Met205Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.M205I	ENST00000306065.4	37	c.615	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882071	0.91740	.	.	ENSG00000105186	ENST00000306065	T	0.27720	1.65	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	T	0.47728	0.1461	L	0.32530	0.975	0.48762	D	0.999704	D	0.71674	0.998	D	0.76071	0.987	T	0.41752	-0.9491	10	0.56958	D	0.05	-40.8524	19.6533	0.95827	0.0:1.0:0.0:0.0	.	205	Q96NW4	ANR27_HUMAN	I	205	ENSP00000304292:M205I	ENSP00000304292:M205I	M	-	3	0	ANKRD27	37826201	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.735000	0.74806	2.642000	0.89623	0.442000	0.29010	ATG	ANKRD27	-	NULL	ENSG00000105186		0.577	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	45	0.00	0	C	NM_032139		33134361	33134361	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	A
ANKRD27	84079	genome.wustl.edu	37	19	33135274	33135274	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:33135274C>T	ENST00000306065.4	-	5	640	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ANKRD27_ENST00000587352.1_Missense_Mutation_p.R161Q	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	161				HRTFRECERKSLRHHI -> LIEHSENARERASVTT (in Ref. 4; AAQ04657). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCGGAATGTTCGATGGAAAGA	0.537																																						dbGAP											0													265.0	256.0	259.0					19																	33135274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.482G>A	19.37:g.33135274C>T	ENSP00000304292:p.Arg161Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.R161Q	ENST00000306065.4	37	c.482	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895286	0.33442	.	.	ENSG00000105186	ENST00000306065	T	0.29917	1.55	5.61	5.61	0.85477	.	0.000000	0.47093	D	0.000253	T	0.17323	0.0416	N	0.14661	0.345	0.24455	N	0.994465	P	0.41929	0.765	B	0.21151	0.033	T	0.18147	-1.0346	10	0.56958	D	0.05	-13.7576	19.694	0.96016	0.0:1.0:0.0:0.0	.	161	Q96NW4	ANR27_HUMAN	Q	161	ENSP00000304292:R161Q	ENSP00000304292:R161Q	R	-	2	0	ANKRD27	37827114	0.996000	0.38824	0.955000	0.39395	0.235000	0.25334	2.385000	0.44371	2.651000	0.90000	0.456000	0.33151	CGA	ANKRD27	-	NULL	ENSG00000105186		0.537	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	116	0.00	0	C	NM_032139		33135274	33135274	-1	no_errors	ENST00000306065	ensembl	human	known	69_37n	missense	61	28.24	24	SNP	0.721	T
ANKRD28	23243	genome.wustl.edu	37	3	15765995	15765995	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:15765995C>T	ENST00000399451.2	-	7	954	c.587G>A	c.(586-588)gGa>gAa	p.G196E	ANKRD28_ENST00000383777.1_Missense_Mutation_p.G229E|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	196						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CACTTCAGCTCCATGCGACAC	0.368																																						dbGAP											0													53.0	48.0	50.0					3																	15765995		1916	4140	6056	-	-	-	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.587G>A	3.37:g.15765995C>T	ENSP00000382379:p.Gly196Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G229E	ENST00000399451.2	37	c.686	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911703	0.92178	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	D;D;D	0.81821	-1.54;-1.54;-1.54	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.92031	0.7475	M	0.93854	3.465	0.80722	D	1	D;P;D	0.67145	0.996;0.951;0.979	D;P;D	0.68765	0.96;0.673;0.935	D	0.93494	0.6838	10	0.66056	D	0.02	.	16.7649	0.85521	0.0:0.8714:0.1286:0.0	.	229;226;196	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	E	196;229;196	ENSP00000382379:G196E;ENSP00000373287:G229E;ENSP00000397341:G196E	ENSP00000373287:G229E	G	-	2	0	ANKRD28	15740999	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.037000	0.57311	2.678000	0.91216	0.650000	0.86243	GGA	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000206560		0.368	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	105	0.00	0	C	NM_015199		15765995	15765995	-1	no_errors	ENST00000383777	ensembl	human	known	69_37n	missense	78	11.36	10	SNP	1.000	T
ANKRD30A	91074	genome.wustl.edu	37	10	37431191	37431191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:37431191G>T	ENST00000602533.1	+	7	1297	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.E400*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E400*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	456					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E400*(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTACAAAAGAATCATCTAC	0.378																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											53.0	50.0	51.0					10																	37431191		1876	4118	5994	-	-	-	SO:0001587	stop_gained	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1198G>T	10.37:g.37431191G>T	ENSP00000473551:p.Glu400*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W025	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E400*	ENST00000602533.1	37	c.1198		10	.	.	.	.	.	.	.	.	.	.	.	16.17	3.047849	0.55110	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	0.509	-0.802	0.10889	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	.	.	.	.	.	.	.	X	400	.	ENSP00000354432:E400X	E	+	1	0	ANKRD30A	37471197	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.425000	0.01028	-0.293000	0.08986	-1.368000	0.01194	GAA	ANKRD30A	-	NULL	ENSG00000148513		0.378	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	74	0.00	0	G	NM_052997		37431191	37431191	+1	no_errors	ENST00000361713	ensembl	human	known	69_37n	nonsense	49	20.97	13	SNP	0.003	T
ANKRD30B	374860	genome.wustl.edu	37	18	14748485	14748485	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14748485G>A	ENST00000358984.4	+	1	247	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E23K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	23										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CCCCTTCAGCGAACGGGTCTA	0.637																																						dbGAP											0													24.0	27.0	26.0					18																	14748485		692	1591	2283	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.67G>A	18.37:g.14748485G>A	ENSP00000351875:p.Glu23Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E23K	ENST00000358984.4	37	c.67	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	6.438	0.448883	0.12223	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.31247	1.54;1.5	0.676	-0.808	0.10868	.	.	.	.	.	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.35240	0.198	T	0.23655	-1.0182	8	0.17369	T	0.5	.	.	.	.	.	23	F8WAG3	.	K	23	ENSP00000351875:E23K;ENSP00000399031:E23K	ENSP00000351875:E23K	E	+	1	0	ANKRD30B	14738485	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.755000	0.01814	-0.320000	0.08640	0.423000	0.28283	GAA	ANKRD30B	-	NULL	ENSG00000180777		0.637	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	40	0.00	0	G	NM_001145029		14748485	14748485	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	0.000	A
ANKRD30B	374860	genome.wustl.edu	37	18	14772201	14772201	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14772201G>A	ENST00000358984.4	+	9	1483	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E435K|AP006564.1_ENST00000579337.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	435										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TACAAAAGTTGAGGAAGACTT	0.294																																						dbGAP											0													110.0	92.0	97.0					18																	14772201		692	1583	2275	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1303G>A	18.37:g.14772201G>A	ENSP00000351875:p.Glu435Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E435K	ENST00000358984.4	37	c.1303	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	11.50	1.658137	0.29425	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.44083	1.24;0.93	1.36	-0.76	0.11041	.	.	.	.	.	T	0.17450	0.0419	L	0.29908	0.895	0.09310	N	1	P	0.39424	0.673	B	0.28916	0.096	T	0.18147	-1.0346	9	0.06757	T	0.87	.	2.6548	0.05008	0.222:0.3114:0.4667:0.0	.	435	F8WAG3	.	K	435	ENSP00000351875:E435K;ENSP00000399031:E435K	ENSP00000351875:E435K	E	+	1	0	ANKRD30B	14762201	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	0.364000	0.20325	-0.261000	0.09405	0.478000	0.44815	GAG	ANKRD30B	-	NULL	ENSG00000180777		0.294	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	195	0.00	0	G	NM_001145029		14772201	14772201	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	170	15.00	30	SNP	0.000	A
ANKRD30B	374860	genome.wustl.edu	37	18	14787081	14787081	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14787081A>C	ENST00000358984.4	+	15	1896	c.1716A>C	c.(1714-1716)gaA>gaC	p.E572D	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E572D	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	572										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACGATGAAGAAAATTCTTGGG	0.289																																						dbGAP											0													172.0	146.0	154.0					18																	14787081		692	1585	2277	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1716A>C	18.37:g.14787081A>C	ENSP00000351875:p.Glu572Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E572D	ENST00000358984.4	37	c.1716	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	4.777	0.144398	0.09134	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.07021	3.23;3.23	1.15	-0.256	0.12984	.	.	.	.	.	T	0.06508	0.0167	L	0.41824	1.3	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.37731	-0.9693	9	0.62326	D	0.03	.	3.0412	0.06139	0.6059:0.0:0.0:0.3941	.	572	F8WAG3	.	D	572	ENSP00000351875:E572D;ENSP00000399031:E572D	ENSP00000351875:E572D	E	+	3	2	ANKRD30B	14777081	0.163000	0.22920	0.002000	0.10522	0.003000	0.03518	0.177000	0.16801	-0.068000	0.12953	0.241000	0.17934	GAA	ANKRD30B	-	NULL	ENSG00000180777		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	878	0.00	0	A	NM_001145029		14787081	14787081	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	551	27.50	209	SNP	0.002	C
ANKRD30B	374860	genome.wustl.edu	37	18	14850273	14850273	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14850273T>G	ENST00000358984.4	+	35	3279	c.3099T>G	c.(3097-3099)atT>atG	p.I1033M		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1033										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAAAAAATTAGACCCGAAG	0.284																																						dbGAP											0													55.0	48.0	51.0					18																	14850273		692	1576	2268	-	-	-	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3099T>G	18.37:g.14850273T>G	ENSP00000351875:p.Ile1033Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1033M	ENST00000358984.4	37	c.3099	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	T	2.917	-0.223947	0.06061	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.17691	2.26	1.48	0.285	0.15705	.	.	.	.	.	T	0.13543	0.0328	L	0.39020	1.185	0.58432	D	0.999999	D;D	0.58268	0.969;0.982	B;P	0.47603	0.265;0.551	T	0.18903	-1.0322	9	0.37606	T	0.19	.	4.0135	0.09632	0.0:0.4291:0.0:0.5709	.	1118;1033	Q9BXX2;F8WAG3	AN30B_HUMAN;.	M	1033;427;453	ENSP00000351875:I1033M	ENSP00000277669:I453M	I	+	3	3	ANKRD30B	14840273	0.013000	0.17824	0.411000	0.26484	0.084000	0.17831	0.132000	0.15891	0.075000	0.16796	0.145000	0.16022	ATT	ANKRD30B	-	NULL	ENSG00000180777		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	88	0.00	0	T	NM_001145029		14850273	14850273	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	0.911	G
ANKRD30B	374860	genome.wustl.edu	37	18	14852066	14852066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14852066G>T	ENST00000358984.4	+	36	3946	c.3766G>T	c.(3766-3768)Gaa>Taa	p.E1256*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1256										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGATCTAAGAGAAAATGCATT	0.348																																						dbGAP											0													56.0	42.0	46.0					18																	14852066		692	1590	2282	-	-	-	SO:0001587	stop_gained	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3766G>T	18.37:g.14852066G>T	ENSP00000351875:p.Glu1256*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGP1|F8WAG3|Q4G175	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1256*	ENST00000358984.4	37	c.3766	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	37	6.024799	0.97211	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	.	.	.	1.39	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.7313	0.34501	0.0:0.0:1.0:0.0	.	.	.	.	X	1256;650;676	.	ENSP00000277669:E676X	E	+	1	0	ANKRD30B	14842066	1.000000	0.71417	0.892000	0.35008	0.084000	0.17831	5.664000	0.68045	1.076000	0.40961	0.173000	0.16961	GAA	ANKRD30B	-	NULL	ENSG00000180777		0.348	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	69	0.00	0	G	NM_001145029		14852066	14852066	+1	no_errors	ENST00000358984	ensembl	human	known	69_37n	nonsense	51	12.07	7	SNP	0.991	T
ANKRD31	256006	genome.wustl.edu	37	5	74442501	74442501	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:74442501G>T	ENST00000274361.3	-	14	2926	c.2735C>A	c.(2734-2736)gCt>gAt	p.A912D	ANKRD31_ENST00000504022.1_Intron|ANKRD31_ENST00000506364.2_Missense_Mutation_p.A912D	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	912										endometrium(1)|kidney(4)	5						AGATGTTATAGCCTTCTCAGA	0.308																																						dbGAP											0													32.0	26.0	28.0					5																	74442501		692	1588	2280	-	-	-	SO:0001583	missense	0			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.2735C>A	5.37:g.74442501G>T	ENSP00000274361:p.Ala912Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A912D	ENST00000274361.3	37	c.2735		5	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503087	0.26949	.	.	ENSG00000145700	ENST00000274361	T	0.62232	0.04	5.35	3.45	0.39498	.	.	.	.	.	T	0.40347	0.1113	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.24693	-1.0153	7	0.38643	T	0.18	.	6.2715	0.20956	0.094:0.0:0.7237:0.1823	.	.	.	.	D	912	ENSP00000274361:A912D	ENSP00000274361:A912D	A	-	2	0	ANKRD31	74478257	0.008000	0.16893	0.013000	0.15412	0.008000	0.06430	1.626000	0.37039	1.391000	0.46566	-0.136000	0.14681	GCT	ANKRD31	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145700		0.308	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		106	0.00	0	G	NM_001164443		74442501	74442501	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	missense	79	11.24	10	SNP	0.004	T
ANKRD31	256006	genome.wustl.edu	37	5	74495461	74495461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:74495461C>A	ENST00000274361.3	-	6	633	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	ANKRD31_ENST00000506364.2_Nonsense_Mutation_p.E148*	NM_001164443.1	NP_001157915.1	Q8N7Z5	ANR31_HUMAN	ankyrin repeat domain 31	148										endometrium(1)|kidney(4)	5						CCAACCTTTTCTATGTGTGGC	0.338																																						dbGAP											0													112.0	97.0	102.0					5																	74495461		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK097510	CCDS47233.1	5q13.3	2013-01-10			ENSG00000145700	ENSG00000145700		"""Ankyrin repeat domain containing"""	26853	protein-coding gene	gene with protein product							Standard	NM_001164443		Approved	FLJ40191	uc003kdo.2	Q8N7Z5	OTTHUMG00000162649	ENST00000274361.3:c.442G>T	5.37:g.74495461C>A	ENSP00000274361:p.Glu148*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E148*	ENST00000274361.3	37	c.442		5	.	.	.	.	.	.	.	.	.	.	C	34	5.361429	0.95877	.	.	ENSG00000145700	ENST00000274361;ENST00000506364	.	.	.	4.17	2.32	0.28847	.	0.430839	0.17211	N	0.182711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.9814	0.24706	0.0:0.7813:0.0:0.2187	.	.	.	.	X	148	.	ENSP00000274361:E148X	E	-	1	0	ANKRD31	74531217	0.189000	0.23263	0.542000	0.28115	0.896000	0.52359	0.059000	0.14322	0.499000	0.27970	0.655000	0.94253	GAA	ANKRD31	-	NULL	ENSG00000145700		0.338	ANKRD31-201	KNOWN	basic|appris_principal	protein_coding	ANKRD31	HGNC	protein_coding		227	0.00	0	C	NM_001164443		74495461	74495461	-1	no_errors	ENST00000274361	ensembl	human	known	69_37n	nonsense	119	19.59	29	SNP	0.703	A
ANKRD34B	340120	genome.wustl.edu	37	5	79854754	79854754	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79854754C>A	ENST00000338682.3	-	5	1757	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	362						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCCCAAGTTTCTTTTTTGAAC	0.438																																						dbGAP											0													47.0	51.0	50.0					5																	79854754		2184	4295	6479	-	-	-	SO:0001583	missense	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1085G>T	5.37:g.79854754C>A	ENSP00000339802:p.Arg362Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R362I	ENST00000338682.3	37	c.1085	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303968	0.81136	.	.	ENSG00000189127	ENST00000338682	T	0.22134	1.97	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.40498	0.1119	M	0.71581	2.175	0.80722	D	1	D	0.57899	0.981	P	0.57371	0.819	T	0.27839	-1.0062	10	0.51188	T	0.08	-18.7817	14.2067	0.65739	0.0:0.9283:0.0:0.0717	.	362	A5PLL1	AN34B_HUMAN	I	362	ENSP00000339802:R362I	ENSP00000339802:R362I	R	-	2	0	ANKRD34B	79890510	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	3.996000	0.57009	1.616000	0.50265	0.655000	0.94253	AGA	ANKRD34B	-	NULL	ENSG00000189127		0.438	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	78	0.00	0	C	NM_001004441		79854754	79854754	-1	no_errors	ENST00000338682	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	A
ANKRD34B	340120	genome.wustl.edu	37	5	79855613	79855613	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79855613C>T	ENST00000338682.3	-	5	898	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	76						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ATGTTGGGATCGGCATTGTTC	0.463																																						dbGAP											0													165.0	163.0	164.0					5																	79855613		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.226G>A	5.37:g.79855613C>T	ENSP00000339802:p.Asp76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D76N	ENST00000338682.3	37	c.226	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994657	0.93167	.	.	ENSG00000189127	ENST00000338682	T	0.37584	1.19	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.49592	0.1566	L	0.31157	0.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31420	-0.9944	10	0.31617	T	0.26	-18.1505	18.586	0.91189	0.0:1.0:0.0:0.0	.	76	A5PLL1	AN34B_HUMAN	N	76	ENSP00000339802:D76N	ENSP00000339802:D76N	D	-	1	0	ANKRD34B	79891369	1.000000	0.71417	0.708000	0.30435	0.911000	0.54048	7.682000	0.84083	2.726000	0.93360	0.561000	0.74099	GAT	ANKRD34B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000189127		0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	127	0.00	0	C	NM_001004441		79855613	79855613	-1	no_errors	ENST00000338682	ensembl	human	known	69_37n	missense	85	15.84	16	SNP	1.000	T
ANKRD36	375248	genome.wustl.edu	37	2	97788702	97788702	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:97788702A>C	ENST00000461153.2	+	4	809	c.565A>C	c.(565-567)Aat>Cat	p.N189H	ANKRD36_ENST00000420699.2_Missense_Mutation_p.N189H			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	189										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAAAAAAGCAAATGTAAATGC	0.348																																						dbGAP											0													191.0	151.0	163.0					2																	97788702		692	1589	2281	-	-	-	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.565A>C	2.37:g.97788702A>C	ENSP00000419530:p.Asn189His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N189H	ENST00000461153.2	37	c.565	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	A	11.72	1.724117	0.30593	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000455519	T;T	0.56941	0.43;0.43	1.44	-1.4	0.08968	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.60843	0.2300	M	0.64997	1.995	0.09310	N	1	B;D	0.69078	0.372;0.997	B;D	0.78314	0.081;0.991	T	0.51044	-0.8755	9	0.87932	D	0	.	2.219	0.03968	0.4544:0.3206:0.225:0.0	.	189;189	A6QL64;F2Z332	AN36A_HUMAN;.	H	189	ENSP00000419530:N189H;ENSP00000391950:N189H	ENSP00000377149:N189H	N	+	1	0	ANKRD36	97152429	0.001000	0.12720	0.002000	0.10522	0.087000	0.18053	0.151000	0.16283	-0.405000	0.07599	0.164000	0.16699	AAT	ANKRD36	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000135976		0.348	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	327	0.00	0	A			97788702	97788702	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	missense	251	27.67	96	SNP	0.004	C
ANKRD36BP2	645784	genome.wustl.edu	37	2	89103953	89103953	+	RNA	SNP	C	C	T	rs201340478		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:89103953C>T	ENST00000393525.3	+	0	4427									ankyrin repeat domain 36B pseudogene 2																		GGATGGAAGGCGACGCACAAA	0.313																																						dbGAP											0																																										-	-	-			0					2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89103953C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			ANKRD36BP2	-	-	ENSG00000230006		0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	HGNC	pseudogene	OTTHUMT00000323523.1	411	0.00	0	C			89103953	89103953	+1	no_errors	ENST00000393515	ensembl	human	known	69_37n	rna	359	12.14	50	SNP	0.000	T
ANKRD36C	400986	genome.wustl.edu	37	2	96521468	96521468	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96521468G>T	ENST00000456556.1	-	63	4625	c.4541C>A	c.(4540-4542)tCt>tAt	p.S1514Y	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.S541Y|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.S765Y			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1514							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGTTGCAGAGAAAGAATCAG	0.398																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4541C>A	2.37:g.96521468G>T	ENSP00000403302:p.Ser1514Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1514Y	ENST00000456556.1	37	c.4541		2	.	.	.	.	.	.	.	.	.	.	g	11.24	1.580961	0.28180	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.18960	2.18;2.18;2.18	1.87	1.87	0.25490	.	.	.	.	.	T	0.32912	0.0845	M	0.68317	2.08	0.33163	D	0.547306	.	.	.	.	.	.	T	0.51244	-0.8730	7	0.87932	D	0	.	9.724	0.40320	0.0:0.0:1.0:0.0	.	.	.	.	Y	765;1514;541	ENSP00000415231:S765Y;ENSP00000403302:S1514Y;ENSP00000407838:S541Y	ENSP00000407838:S541Y	S	-	2	0	AC073995.2	95885195	1.000000	0.71417	0.425000	0.26659	0.074000	0.17049	3.858000	0.55979	1.361000	0.45981	0.313000	0.20887	TCT	ANKRD36C	-	NULL	ENSG00000174501		0.398	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	185	0.00	0	G	NM_001010914		96521468	96521468	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	missense	111	11.90	15	SNP	0.921	T
ANKRD36C	400986	genome.wustl.edu	37	2	96521730	96521730	+	Nonsense_Mutation	SNP	C	C	A	rs2696786		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96521730C>A	ENST00000456556.1	-	63	4363	c.4279G>T	c.(4279-4281)Gaa>Taa	p.E1427*	ANKRD36C_ENST00000419039.2_Nonsense_Mutation_p.E454*|ANKRD36C_ENST00000420871.2_Nonsense_Mutation_p.E678*			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1427							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GCTATCGTTTCTGCTAATGTT	0.413																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4279G>T	2.37:g.96521730C>A	ENSP00000403302:p.Glu1427*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1427*	ENST00000456556.1	37	c.4279		2	.	.	.	.	.	.	.	.	.	.	c	48	14.127030	0.99781	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	.	.	.	1.87	0.664	0.17890	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.6346	0.04954	0.0:0.1744:0.2775:0.5481	.	.	.	.	X	678;1427;454	.	ENSP00000407838:E454X	E	-	1	0	AC073995.2	95885457	1.000000	0.71417	0.002000	0.10522	0.007000	0.05969	1.628000	0.37060	0.175000	0.19841	-0.993000	0.02533	GAA	ANKRD36C	-	NULL	ENSG00000174501		0.413	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	232	0.00	0	C	NM_001010914		96521730	96521730	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	nonsense	120	24.05	38	SNP	0.172	A
ANKRD36C	400986	genome.wustl.edu	37	2	96523224	96523224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96523224C>A	ENST00000456556.1	-	62	3997	c.3913G>T	c.(3913-3915)Gaa>Taa	p.E1305*	ANKRD36C_ENST00000419039.2_Nonsense_Mutation_p.E332*|ANKRD36C_ENST00000420871.2_Nonsense_Mutation_p.E556*			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1305							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTTTTTTTCTTGCTGTATG	0.318																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3913G>T	2.37:g.96523224C>A	ENSP00000403302:p.Glu1305*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1305*	ENST00000456556.1	37	c.3913		2	.	.	.	.	.	.	.	.	.	.	c	49	15.612853	0.99839	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	.	.	.	1.51	1.51	0.23008	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	8.9413	0.35731	0.0:1.0:0.0:0.0	.	.	.	.	X	556;1305;332	.	ENSP00000407838:E332X	E	-	1	0	AC073995.2	95886951	1.000000	0.71417	0.064000	0.19789	0.014000	0.08584	3.267000	0.51577	1.130000	0.42092	0.313000	0.20887	GAA	ANKRD36C	-	NULL	ENSG00000174501		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	275	0.00	0	C	NM_001010914		96523224	96523224	-1	no_errors	ENST00000456556	ensembl	human	known	69_37n	nonsense	192	13.51	30	SNP	0.995	A
ANKRD36C	400986	genome.wustl.edu	37	2	96576148	96576148	+	Intron	SNP	C	C	A	rs570089119	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96576148C>A	ENST00000456556.1	-	42	2738				ANKRD36C_ENST00000295246.5_Nonsense_Mutation_p.E59*|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C								ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CCATCCTTTTCTTCTCTGGCT	0.328																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.2653+1843G>T	2.37:g.96576148C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Nonsense_Mutation	SNP	NULL	p.E59*	ENST00000456556.1	37	c.175		2	.	.	.	.	.	.	.	.	.	.	c	35	5.538624	0.96474	.	.	ENSG00000174501	ENST00000295246	.	.	.	0.852	-0.528	0.11905	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0677	0.06220	0.0:0.3092:0.0:0.6908	.	.	.	.	X	59	.	ENSP00000295246:E59X	E	-	1	0	AC073995.2	95939875	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.646000	0.05403	-0.190000	0.10465	-1.615000	0.00797	GAA	ANKRD36C	-	NULL	ENSG00000174501		0.328	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	190	0.00	0	C	NM_001010914		96576148	96576148	-1	no_start_codon:no_stop_codon	ENST00000295246	ensembl	human	known	69_37n	nonsense	131	12.67	19	SNP	0.001	A
ANKRD36	375248	genome.wustl.edu	37	2	97864373	97864373	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:97864373G>A	ENST00000461153.2	+	44	2977	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	ANKRD36_ENST00000420699.2_Silent_p.K911K			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	911										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAGGAAAAAAGGATGGAGAAA	0.328																																						dbGAP											0													18.0	9.0	12.0					2																	97864373		692	1539	2231	-	-	-	SO:0001819	synonymous_variant	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2733G>A	2.37:g.97864373G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K911	ENST00000461153.2	37	c.2733	CCDS54379.1	2																																																																																			ANKRD36	-	NULL	ENSG00000135976		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	144	0.00	0	G			97864373	97864373	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	silent	112	16.42	22	SNP	0.005	A
ANKRD40	91369	genome.wustl.edu	37	17	48774363	48774363	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:48774363G>A	ENST00000285243.6	-	4	1167	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	Y_RNA_ENST00000364470.1_RNA|RP11-294J22.6_ENST00000574246.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	300										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TTAACACCCAGCTCACAGCAA	0.418																																						dbGAP											0													133.0	123.0	126.0					17																	48774363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.898C>T	17.37:g.48774363G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E32	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L300	ENST00000285243.6	37	c.898	CCDS11572.1	17																																																																																			ANKRD40	-	NULL	ENSG00000154945		0.418	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	HGNC	protein_coding	OTTHUMT00000368201.2	154	0.00	0	G	NM_052855		48774363	48774363	-1	no_errors	ENST00000285243	ensembl	human	known	69_37n	silent	107	18.32	24	SNP	1.000	A
ANKRD53	79998	genome.wustl.edu	37	2	71211329	71211329	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71211329C>T	ENST00000360589.3	+	6	937				ANKRD53_ENST00000441349.1_Missense_Mutation_p.S238F|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.S327F|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53									p.S327Y(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CAGGACATTTCTCTACTATCA	0.483																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											144.0	133.0	137.0					2																	71211329		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.904-412C>T	2.37:g.71211329C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYP8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S327F	ENST00000360589.3	37	c.980	CCDS46321.1	2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937958	0.34189	.	.	ENSG00000144031	ENST00000272421;ENST00000441349	T;T	0.74526	-0.59;-0.85	3.96	3.96	0.45880	.	.	.	.	.	D	0.82861	0.5129	.	.	.	0.52501	D	0.999951	D;D	0.69078	0.994;0.997	P;D	0.64237	0.84;0.923	D	0.83809	0.0240	8	0.56958	D	0.05	.	11.7906	0.52068	0.0:1.0:0.0:0.0	.	238;327	C9JQK2;Q8N9V6-2	.;.	F	327;238	ENSP00000272421:S327F;ENSP00000388883:S238F	ENSP00000272421:S327F	S	+	2	0	ANKRD53	71064837	0.003000	0.15002	0.071000	0.20095	0.008000	0.06430	0.290000	0.18975	2.499000	0.84300	0.563000	0.77884	TCT	ANKRD53	-	NULL	ENSG00000144031		0.483	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	144	0.69	1	C	NM_024933		71211329	71211329	+1	no_errors	ENST00000272421	ensembl	human	known	69_37n	missense	91	10.78	11	SNP	0.078	T
ANKRD55	79722	genome.wustl.edu	37	5	55407326	55407326	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:55407326G>T	ENST00000341048.4	-	10	1400	c.1249C>A	c.(1249-1251)Ctc>Atc	p.L417I	ANKRD55_ENST00000434982.2_Missense_Mutation_p.L129I|ANKRD55_ENST00000504958.2_Missense_Mutation_p.L374I|ANKRD55_ENST00000505970.2_5'Flank	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	417								p.L417I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCTGGTAAGAGATATTTTGAA	0.483																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											119.0	121.0	120.0					5																	55407326		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1249C>A	5.37:g.55407326G>T	ENSP00000342295:p.Leu417Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L417I	ENST00000341048.4	37	c.1249	CCDS34161.1	5	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729988	0.48939	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.51574	1.02;0.7;1.12	5.59	5.59	0.84812	.	0.169618	0.39615	N	0.001312	T	0.39306	0.1073	L	0.32530	0.975	0.37786	D	0.927177	B;B	0.31077	0.014;0.307	B;B	0.31946	0.012;0.138	T	0.44329	-0.9335	10	0.62326	D	0.03	.	13.266	0.60133	0.0727:0.0:0.9273:0.0	.	417;416	B3KVT8;Q3KP44	.;ANR55_HUMAN	I	417;417;374;129	ENSP00000342295:L417I;ENSP00000424230:L374I;ENSP00000429421:L129I	ENSP00000342295:L417I	L	-	1	0	ANKRD55	55443083	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	3.964000	0.56780	2.810000	0.96702	0.650000	0.86243	CTC	ANKRD55	-	NULL	ENSG00000164512		0.483	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	161	0.00	0	G	NM_024669		55407326	55407326	-1	no_errors	ENST00000341048	ensembl	human	known	69_37n	missense	127	30.22	55	SNP	1.000	T
ANKS6	203286	genome.wustl.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:101536359G>A	ENST00000353234.4	-	9	1668	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_ENST00000540940.1_Nonsense_Mutation_p.R346*|ANKS6_ENST00000375018.1_Nonsense_Mutation_p.R541*|ANKS6_ENST00000375019.2_Nonsense_Mutation_p.R240*			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	541						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557																																						dbGAP											0													30.0	35.0	33.0					9																	101536359		1896	4122	6018	-	-	-	SO:0001587	stop_gained	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1621C>T	9.37:g.101536359G>A	ENSP00000297837:p.Arg541*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.R541*	ENST00000353234.4	37	c.1621	CCDS43856.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.348455|5.348455	0.95807|0.95807	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	.|.	.|.	.|.	5.48|5.48	4.5|4.5	0.54988|0.54988	.|.	0.107337|.	0.64402|.	D|.	0.000008|.	.|T	.|0.61009	.|0.2313	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67658	.|-0.5614	.|3	0.02654|.	T|.	1|.	-11.1796|-11.1796	12.2897|12.2897	0.54810|0.54810	0.0:0.0:0.7562:0.2438|0.0:0.0:0.7562:0.2438	.|.	.|.	.|.	.|.	X|L	240;541;541;346|9	.|.	ENSP00000297837:R541X|.	R|S	-|-	1|2	2|0	ANKS6|ANKS6	100576180|100576180	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.954000|0.954000	0.61252|0.61252	4.849000|4.849000	0.62882|0.62882	2.580000|2.580000	0.87095|0.87095	0.561000|0.561000	0.74099|0.74099	CGA|TCG	ANKS6	-	NULL	ENSG00000165138		0.557	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	58	0.00	0	G	NM_173551		101536359	101536359	-1	no_errors	ENST00000375018	ensembl	human	known	69_37n	nonsense	37	22.92	11	SNP	1.000	A
ANO1	55107	genome.wustl.edu	37	11	70034017	70034017	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:70034017C>T	ENST00000355303.5	+	26	3173	c.2868C>T	c.(2866-2868)gaC>gaT	p.D956D	ANO1_ENST00000538023.1_Silent_p.D956D|ANO1_ENST00000530676.1_Silent_p.D810D|ANO1_ENST00000398543.2_Silent_p.D810D|ANO1_ENST00000531349.1_Silent_p.D665D|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	956					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GGCAGAAGGACGAGCCGCCGT	0.627																																						dbGAP											0													25.0	42.0	36.0					11																	70034017		2110	4209	6319	-	-	-	SO:0001819	synonymous_variant	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2868C>T	11.37:g.70034017C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	pfam_Anoctamin	p.D956	ENST00000355303.5	37	c.2868	CCDS44663.1	11																																																																																			ANO1	-	NULL	ENSG00000131620		0.627	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	54	0.00	0	C	NM_018043		70034017	70034017	+1	no_errors	ENST00000355303	ensembl	human	known	69_37n	silent	31	13.89	5	SNP	0.000	T
ANO10	55129	genome.wustl.edu	37	3	43591293	43591293	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:43591293C>T	ENST00000292246.3	-	11	1886	c.1716G>A	c.(1714-1716)gcG>gcA	p.A572A	ANO10_ENST00000350459.4_Silent_p.A382A|ANO10_ENST00000451430.2_Silent_p.A461A|ANO10_ENST00000396091.3_Silent_p.A506A|ANO10_ENST00000414522.2_Silent_p.A572A	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	572					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TTCCAATCAGCGCACAGTTAG	0.358																																						dbGAP											0													142.0	132.0	135.0					3																	43591293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1716G>A	3.37:g.43591293C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.R100H	ENST00000292246.3	37	c.299	CCDS2710.2	3	.	.	.	.	.	.	.	.	.	.	C	8.883	0.952087	0.18431	.	.	ENSG00000160746	ENST00000448045	.	.	.	5.33	-3.04	0.05412	.	.	.	.	.	T	0.36880	0.0983	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35992	-0.9766	4	.	.	.	.	0.7063	0.00917	0.3058:0.2931:0.1415:0.2596	.	.	.	.	H	100	.	.	R	-	2	0	ANO10	43566297	0.184000	0.23200	0.996000	0.52242	0.943000	0.58893	-0.465000	0.06680	-0.196000	0.10366	-1.031000	0.02408	CGC	ANO10	-	pfam_Anoctamin	ENSG00000160746		0.358	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	373	0.00	0	C	NM_018075		43591293	43591293	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448045	ensembl	human	putative	69_37n	missense	310	10.66	37	SNP	0.491	T
ANO10	55129	genome.wustl.edu	37	3	43641880	43641880	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:43641880A>C	ENST00000292246.3	-	3	503	c.333T>G	c.(331-333)ttT>ttG	p.F111L	ANO10_ENST00000350459.4_Missense_Mutation_p.F111L|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000396091.3_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.F111L	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	111					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GCTTACCATCAAAACCTTTGA	0.383																																						dbGAP											0													190.0	189.0	189.0					3																	43641880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.333T>G	3.37:g.43641880A>C	ENSP00000292246:p.Phe111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.F111L	ENST00000292246.3	37	c.333	CCDS2710.2	3	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021637	0.35701	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141;ENST00000428831	T;T;T;D;D;D	0.86297	0.33;-0.43;0.36;-2.1;-2.1;-2.1	5.75	-4.35	0.03656	.	0.139275	0.64402	D	0.000003	T	0.76955	0.4060	L	0.45581	1.43	0.19775	N	0.99995	B;B;B	0.30686	0.017;0.29;0.017	B;B;B	0.31442	0.044;0.13;0.027	T	0.65586	-0.6132	10	0.11182	T	0.66	.	10.4624	0.44587	0.6856:0.101:0.2134:0.0	.	111;111;111	C9JHS1;Q9NW15-2;Q9NW15	.;.;ANO10_HUMAN	L	111	ENSP00000292246:F111L;ENSP00000327767:F111L;ENSP00000396990:F111L;ENSP00000402845:F111L;ENSP00000399103:F111L;ENSP00000397360:F111L	ENSP00000292246:F111L	F	-	3	2	ANO10	43616884	0.930000	0.31532	0.001000	0.08648	0.630000	0.37929	0.312000	0.19397	-1.085000	0.03088	-1.751000	0.00678	TTT	ANO10	-	NULL	ENSG00000160746		0.383	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	668	0.00	0	A	NM_018075		43641880	43641880	-1	no_errors	ENST00000292246	ensembl	human	known	69_37n	missense	462	14.44	78	SNP	0.001	C
ANO2	57101	genome.wustl.edu	37	12	5916518	5916518	+	Silent	SNP	G	G	A	rs374607322	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:5916518G>A	ENST00000356134.5	-	9	971	c.900C>T	c.(898-900)atC>atT	p.I300I	ANO2_ENST00000546188.1_Silent_p.I300I|ANO2_ENST00000327087.8_Silent_p.I299I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	304					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TATTGTTTGCGATCAGAGAGT	0.393																																						dbGAP											0													74.0	74.0	74.0					12																	5916518		1878	4048	5926	-	-	-	SO:0001819	synonymous_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.900C>T	12.37:g.5916518G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.I300	ENST00000356134.5	37	c.900		12																																																																																			ANO2	-	NULL	ENSG00000047617		0.393	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	265	0.00	0	G	NM_020373		5916518	5916518	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	silent	209	30.23	91	SNP	0.931	A
ANO4	121601	genome.wustl.edu	37	12	101493480	101493480	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:101493480G>T	ENST00000392977.3	+	22	2341	c.2131G>T	c.(2131-2133)Gat>Tat	p.D711Y	ANO4_ENST00000550015.1_Missense_Mutation_p.D231Y|ANO4_ENST00000392979.3_Missense_Mutation_p.D676Y|ANO4_ENST00000299222.9_Missense_Mutation_p.D231Y			Q32M45	ANO4_HUMAN	anoctamin 4	711					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGACTCTTCGATGAATACTT	0.328										HNSCC(74;0.22)																												dbGAP											0													74.0	73.0	74.0					12																	101493480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2131G>T	12.37:g.101493480G>T	ENSP00000376703:p.Asp711Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.D711Y	ENST00000392977.3	37	c.2131		12	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923308	0.73213	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.37507	1.11	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.75020	0.985;0.982;0.985	T	0.59451	-0.7452	10	0.02654	T	1	.	20.0432	0.97601	0.0:0.0:1.0:0.0	.	231;711;676	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	Y	676;231;711;231	ENSP00000376705:D676Y;ENSP00000299222:D231Y;ENSP00000376703:D711Y;ENSP00000450192:D231Y	ENSP00000299222:D231Y	D	+	1	0	ANO4	100017611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.098000	0.71458	2.740000	0.93945	0.650000	0.86243	GAT	ANO4	-	pfam_Anoctamin	ENSG00000151572		0.328	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	113	0.00	0	G	NM_178826		101493480	101493480	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	1.000	T
ANO4	121601	genome.wustl.edu	37	12	101505376	101505376	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:101505376C>A	ENST00000392977.3	+	24	2548	c.2338C>A	c.(2338-2340)Ctc>Atc	p.L780I	ANO4_ENST00000550015.1_Missense_Mutation_p.L300I|ANO4_ENST00000392979.3_Missense_Mutation_p.L745I|ANO4_ENST00000299222.9_Missense_Mutation_p.L300I			Q32M45	ANO4_HUMAN	anoctamin 4	780					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CATTGGAATTCTCTCTGTTAT	0.368										HNSCC(74;0.22)																												dbGAP											0													127.0	122.0	123.0					12																	101505376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2338C>A	12.37:g.101505376C>A	ENSP00000376703:p.Leu780Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.L780I	ENST00000392977.3	37	c.2338		12	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672791	0.67928	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000007	T	0.54382	0.1855	N	0.20483	0.58	0.48288	D	0.999629	P;P;P	0.48162	0.798;0.593;0.906	B;P;B	0.44860	0.409;0.462;0.409	T	0.54377	-0.8303	10	0.35671	T	0.21	.	19.6276	0.95684	0.0:1.0:0.0:0.0	.	300;780;745	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	I	745;300;780;300	ENSP00000376705:L745I;ENSP00000299222:L300I;ENSP00000376703:L780I;ENSP00000450192:L300I	ENSP00000299222:L300I	L	+	1	0	ANO4	100029507	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.417000	0.44653	2.652000	0.90054	0.655000	0.94253	CTC	ANO4	-	pfam_Anoctamin	ENSG00000151572		0.368	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	566	0.00	0	C	NM_178826		101505376	101505376	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	missense	321	13.48	50	SNP	1.000	A
ANO5	203859	genome.wustl.edu	37	11	22283680	22283680	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:22283680C>A	ENST00000324559.8	+	16	1953	c.1636C>A	c.(1636-1638)Cct>Act	p.P546T	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	546					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P546S(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACAGAAATTCCTCGAACATA	0.343																																						dbGAP											1	Substitution - Missense(1)	lung(1)											126.0	123.0	124.0					11																	22283680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1636C>A	11.37:g.22283680C>A	ENSP00000315371:p.Pro546Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Anoctamin	p.P546T	ENST00000324559.8	37	c.1636	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897131	0.91962	.	.	ENSG00000171714	ENST00000324559	T	0.62941	-0.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.88704	2.975	0.80722	D	1	D	0.60160	0.987	D	0.65573	0.936	T	0.82208	-0.0571	10	0.45353	T	0.12	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	546	Q75V66	ANO5_HUMAN	T	546	ENSP00000315371:P546T	ENSP00000315371:P546T	P	+	1	0	ANO5	22240256	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	CCT	ANO5	-	pfam_Anoctamin	ENSG00000171714		0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	372	0.00	0	C	NM_213599		22283680	22283680	+1	no_errors	ENST00000324559	ensembl	human	known	69_37n	missense	278	15.76	52	SNP	1.000	A
ANO5	203859	genome.wustl.edu	37	11	22283790	22283790	+	Silent	SNP	C	C	T	rs267602823		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:22283790C>T	ENST00000324559.8	+	16	2063	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	582					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGGAAGTTCGTAGGCTATC	0.378																																						dbGAP											0													137.0	134.0	135.0					11																	22283790		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1746C>T	11.37:g.22283790C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Anoctamin	p.F582	ENST00000324559.8	37	c.1746	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	419	0.00	0	C	NM_213599		22283790	22283790	+1	no_errors	ENST00000324559	ensembl	human	known	69_37n	silent	245	30.40	107	SNP	0.959	T
ANP32A	8125	genome.wustl.edu	37	15	69076865	69076865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:69076865C>A	ENST00000465139.2	-	4	540	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Nonsense_Mutation_p.E133*	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	133	LRRCT.				gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						AACACATTTTCTCGGTAGTCG	0.502																																						dbGAP											0													102.0	108.0	106.0					15																	69076865		2200	4298	6498	-	-	-	SO:0001587	stop_gained	0			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.397G>T	15.37:g.69076865C>A	ENSP00000417864:p.Glu133*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C	p.E133*	ENST00000465139.2	37	c.397	CCDS45292.1	15	.	.	.	.	.	.	.	.	.	.	C	38	7.213218	0.98139	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	.	.	.	5.5	5.5	0.81552	.	0.045170	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.3922	0.90487	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000350970:E133X	E	-	1	0	ANP32A	66863919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.395000	0.79876	2.580000	0.87095	0.655000	0.94253	GAA	ANP32A	-	smart_U2A'_phosphoprotein32A_C	ENSG00000140350		0.502	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32A	HGNC	protein_coding	OTTHUMT00000335525.2	257	0.00	0	C			69076865	69076865	-1	no_errors	ENST00000465139	ensembl	human	known	69_37n	nonsense	181	11.27	23	SNP	1.000	A
ANPEP	290	genome.wustl.edu	37	15	90349347	90349347	+	Silent	SNP	C	C	A	rs141514548		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:90349347C>A	ENST00000300060.6	-	2	781	c.468G>T	c.(466-468)gtG>gtT	p.V156V		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	156	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CGGTGGGCTCCACCAGCTCAG	0.617																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											0													83.0	77.0	79.0					15																	90349347		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.468G>T	15.37:g.90349347C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V156	ENST00000300060.6	37	c.468	CCDS10356.1	15																																																																																			ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	145	0.00	0	C			90349347	90349347	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	silent	55	22.54	16	SNP	0.000	A
ANXA1	301	genome.wustl.edu	37	9	75778399	75778399	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:75778399G>A	ENST00000376911.1	+	7	1445	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	ANXA1_ENST00000257497.6_Missense_Mutation_p.R188Q			P04083	ANXA1_HUMAN	annexin A1	188					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CAGGGTGACCGATCTGAGGAC	0.363																																						dbGAP											0													171.0	158.0	162.0					9																	75778399		2203	4300	6503	-	-	-	SO:0001583	missense	0			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.563G>A	9.37:g.75778399G>A	ENSP00000366109:p.Arg188Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.R188Q	ENST00000376911.1	37	c.563	CCDS6645.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.463586	0.96257	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.17054	2.3;2.3;2.3	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.70160	-0.4948	10	0.87932	D	0	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	188	P04083	ANXA1_HUMAN	Q	188;199;188	ENSP00000257497:R188Q;ENSP00000412489:R199Q;ENSP00000366109:R188Q	ENSP00000257497:R188Q	R	+	2	0	ANXA1	74968219	1.000000	0.71417	0.861000	0.33841	0.962000	0.63368	7.163000	0.77524	2.760000	0.94817	0.655000	0.94253	CGA	ANXA1	-	superfamily_Annexin	ENSG00000135046		0.363	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	HGNC	protein_coding	OTTHUMT00000052665.1	435	0.00	0	G	NM_000700		75778399	75778399	+1	no_errors	ENST00000257497	ensembl	human	known	69_37n	missense	195	25.19	66	SNP	0.994	A
ANXA4	307	genome.wustl.edu	37	2	70033529	70033529	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:70033529G>A	ENST00000394295.4	+	5	453	c.205G>A	c.(205-207)Gac>Aac	p.D69N	ANXA4_ENST00000409920.1_Missense_Mutation_p.D69N|ANXA4_ENST00000536030.1_5'UTR	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	67					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTTGATAGACGACCTGAAGTC	0.522																																						dbGAP											0													145.0	115.0	125.0					2																	70033529		2203	4300	6503	-	-	-	SO:0001583	missense	0			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.205G>A	2.37:g.70033529G>A	ENSP00000377833:p.Asp69Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV	p.D69N	ENST00000394295.4	37	c.205	CCDS1894.1	2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745581	0.69418	.	.	ENSG00000196975	ENST00000409920;ENST00000394295	T;T	0.04360	3.64;3.64	4.88	4.88	0.63580	.	0.104565	0.64402	D	0.000006	T	0.28433	0.0703	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	T	0.18241	-1.0343	9	.	.	.	.	15.8659	0.79063	0.0:0.0:1.0:0.0	.	69;69	Q6P452;Q6LES2	.;.	N	69	ENSP00000386756:D69N;ENSP00000377833:D69N	.	D	+	1	0	ANXA4	69887033	1.000000	0.71417	0.901000	0.35422	0.493000	0.33554	5.818000	0.69236	2.414000	0.81942	0.555000	0.69702	GAC	ANXA4	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat	ENSG00000196975		0.522	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA4	HGNC	protein_coding	OTTHUMT00000251848.2	281	0.00	0	G	NM_001153		70033529	70033529	+1	no_errors	ENST00000394295	ensembl	human	known	69_37n	missense	241	14.54	41	SNP	0.989	A
ANXA6	309	genome.wustl.edu	37	5	150502564	150502564	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:150502564C>T	ENST00000354546.5	-	16	1374	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	ANXA6_ENST00000521512.1_Missense_Mutation_p.E176K|ANXA6_ENST00000523714.1_Missense_Mutation_p.E351K|ANXA6_ENST00000356496.5_Missense_Mutation_p.E383K|ANXA6_ENST00000377751.5_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	383					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.E383K(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGTGTCTTCGTCAGTCCCT	0.572																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											140.0	146.0	144.0					5																	150502564		2134	4252	6386	-	-	-	SO:0001583	missense	0			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1147G>A	5.37:g.150502564C>T	ENSP00000346550:p.Glu383Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV	p.E383K	ENST00000354546.5	37	c.1147	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623217	0.87460	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.48	4.6	0.57074	Annexin repeat, conserved site (1);	0.103749	0.64402	D	0.000005	T	0.14917	0.0360	L	0.50993	1.605	0.80722	D	1	P;D;D	0.59767	0.924;0.986;0.986	B;P;P	0.54759	0.295;0.705;0.76	T	0.00655	-1.1624	10	0.59425	D	0.04	.	15.1622	0.72793	0.0:0.8577:0.1422:0.0	.	176;383;383	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	K	383;351;383;176;257	ENSP00000346550:E383K;ENSP00000430517:E351K;ENSP00000348889:E383K;ENSP00000430420:E176K	ENSP00000346550:E383K	E	-	1	0	ANXA6	150482757	1.000000	0.71417	0.033000	0.17914	0.021000	0.10359	5.234000	0.65343	1.280000	0.44463	-0.175000	0.13238	GAA	ANXA6	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat	ENSG00000197043		0.572	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	HGNC	protein_coding	OTTHUMT00000377668.2	290	0.34	1	C	NM_001155		150502564	150502564	-1	no_errors	ENST00000354546	ensembl	human	known	69_37n	missense	159	33.19	79	SNP	1.000	T
AOC2	314	genome.wustl.edu	37	17	40998016	40998016	+	Missense_Mutation	SNP	C	C	A	rs541580943		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:40998016C>A	ENST00000253799.3	+	1	1400	c.1373C>A	c.(1372-1374)tCt>tAt	p.S458Y	AOC2_ENST00000452774.2_Missense_Mutation_p.S458Y	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	458					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTGGTCAGGTCTGTGTCATCT	0.502																																						dbGAP											0													128.0	117.0	121.0					17																	40998016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1373C>A	17.37:g.40998016C>A	ENSP00000253799:p.Ser458Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.S458Y	ENST00000253799.3	37	c.1373	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481031	0.63849	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.04119	3.7;3.7	5.68	4.7	0.59300	Copper amine oxidase, C-terminal (3);	0.139160	0.49916	D	0.000128	T	0.19805	0.0476	M	0.85373	2.75	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.39502	-0.9611	10	0.02654	T	1	-50.4281	15.0156	0.71581	0.0:0.9304:0.0:0.0696	.	458;458	O75106;O75106-2	AOC2_HUMAN;.	Y	458	ENSP00000253799:S458Y;ENSP00000406134:S458Y	ENSP00000253799:S458Y	S	+	2	0	AOC2	38251542	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.747000	0.62141	1.367000	0.46095	0.591000	0.81541	TCT	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131480		0.502	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	191	0.00	0	C	NM_009590, NM_001158		40998016	40998016	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	missense	96	11.93	13	SNP	1.000	A
AOC2	314	genome.wustl.edu	37	17	41002295	41002295	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:41002295C>A	ENST00000253799.3	+	4	2228	c.2201C>A	c.(2200-2202)cCt>cAt	p.P734H	AOC2_ENST00000452774.2_Missense_Mutation_p.P707H|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	734					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCATCAATCCTGTGGCCTGC	0.597																																						dbGAP											0													163.0	171.0	169.0					17																	41002295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.2201C>A	17.37:g.41002295C>A	ENSP00000253799:p.Pro734His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.P734H	ENST00000253799.3	37	c.2201	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	3.392	-0.124102	0.06795	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03553	3.89;3.89	5.19	3.11	0.35812	Copper amine oxidase, C-terminal (1);	0.669731	0.15067	N	0.282419	T	0.02807	0.0084	N	0.19112	0.55	0.31039	N	0.716583	B;B	0.06786	0.0;0.001	B;B	0.12156	0.003;0.007	T	0.27640	-1.0068	10	0.31617	T	0.26	-35.8049	7.4052	0.26987	0.3053:0.6116:0.0:0.0831	.	734;707	O75106;O75106-2	AOC2_HUMAN;.	H	734;707	ENSP00000253799:P734H;ENSP00000406134:P707H	ENSP00000253799:P734H	P	+	2	0	AOC2	38255821	0.629000	0.27146	0.989000	0.46669	0.359000	0.29487	1.274000	0.33132	0.498000	0.27948	0.561000	0.74099	CCT	AOC2	-	superfamily_Cu_amine_oxidase_C	ENSG00000131480		0.597	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	254	0.00	0	C	NM_009590, NM_001158		41002295	41002295	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	missense	94	10.48	11	SNP	0.409	A
AOC3	8639	genome.wustl.edu	37	17	41004823	41004823	+	Missense_Mutation	SNP	G	G	A	rs146487990		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:41004823G>A	ENST00000308423.2	+	1	1623	c.1463G>A	c.(1462-1464)cGa>cAa	p.R488Q	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	488					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.R488Q(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATAGAAATACGATTCTATGCC	0.547																																					NSCLC(3;192 220 10664 11501 16477)	dbGAP											1	Substitution - Missense(1)	skin(1)											126.0	112.0	117.0					17																	41004823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1463G>A	17.37:g.41004823G>A	ENSP00000312326:p.Arg488Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R488Q	ENST00000308423.2	37	c.1463	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361778	0.24684	.	.	ENSG00000131471	ENST00000308423	T	0.03580	3.88	5.26	-2.76	0.05896	Copper amine oxidase, C-terminal (3);	0.357463	0.27393	N	0.019571	T	0.05044	0.0135	M	0.64404	1.975	0.29603	N	0.847509	P	0.50943	0.94	B	0.41723	0.365	T	0.06935	-1.0799	10	0.56958	D	0.05	.	13.0099	0.58725	0.5705:0.0:0.4295:0.0	.	488	Q16853	AOC3_HUMAN	Q	488	ENSP00000312326:R488Q	ENSP00000312326:R488Q	R	+	2	0	AOC3	38258349	0.000000	0.05858	0.004000	0.12327	0.020000	0.10135	0.126000	0.15769	-0.753000	0.04721	-0.768000	0.03414	CGA	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.547	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	176	0.00	0	G	NM_003734		41004823	41004823	+1	no_errors	ENST00000308423	ensembl	human	known	69_37n	missense	93	12.26	13	SNP	0.068	A
AOC4P	90586	genome.wustl.edu	37	17	41020434	41020434	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:41020434G>A	ENST00000585538.1	+	0	1273					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		TCTGCTCTACGAAGCCGGTAC	0.587																																						dbGAP											0																																										-	-	-			0					17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41020434G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000585538.1	37	NULL		17																																																																																			AOC4	-	-	ENSG00000260105		0.587	AOC4P-006	KNOWN	basic	processed_transcript	AOC4	Clone_based_vega_gene	pseudogene	OTTHUMT00000452449.1	30	0.00	0	G			41020434	41020434	+1	no_errors	ENST00000585538	ensembl	human	known	69_37n	rna	18	30.77	8	SNP	0.000	A
AOX1	316	genome.wustl.edu	37	2	201459997	201459997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:201459997C>T	ENST00000374700.2	+	3	347	c.106C>T	c.(106-108)Cga>Tga	p.R36*		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	36	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTTCCAGTTCGACTCACAGG	0.428																																						dbGAP											0													104.0	86.0	92.0					2																	201459997		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.106C>T	2.37:g.201459997C>T	ENSP00000363832:p.Arg36*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Nonsense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.R36*	ENST00000374700.2	37	c.106	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266825	0.59540	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	.	.	.	5.65	2.86	0.33363	.	0.313555	0.32503	N	0.006011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0512	10.0146	0.42008	0.0:0.5343:0.3939:0.0718	.	.	.	.	X	36;11	.	ENSP00000363832:R36X	R	+	1	2	AOX1	201168242	0.008000	0.16893	0.002000	0.10522	0.012000	0.07955	1.833000	0.39161	0.466000	0.27193	-0.951000	0.02657	CGA	AOX1	-	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	258	0.00	0	C	NM_001159		201459997	201459997	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	nonsense	253	15.61	47	SNP	0.001	T
AOX1	316	genome.wustl.edu	37	2	201521604	201521604	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:201521604C>T	ENST00000374700.2	+	27	3356	c.3115C>T	c.(3115-3117)Ctg>Ttg	p.L1039L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1039					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGCTCTGTGCTGGTCACTCA	0.428																																						dbGAP											0													113.0	104.0	107.0					2																	201521604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3115C>T	2.37:g.201521604C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.L1039	ENST00000374700.2	37	c.3115	CCDS33360.1	2																																																																																			AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	320	0.00	0	C	NM_001159		201521604	201521604	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	silent	140	30.00	60	SNP	1.000	T
AOX1	316	genome.wustl.edu	37	2	201527626	201527626	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:201527626C>T	ENST00000374700.2	+	31	3718	c.3477C>T	c.(3475-3477)ttC>ttT	p.F1159F	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1159					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCAGCCCTTCGAATACTTTG	0.488																																						dbGAP											0													170.0	161.0	164.0					2																	201527626		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3477C>T	2.37:g.201527626C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.F1159	ENST00000374700.2	37	c.3477	CCDS33360.1	2																																																																																			AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.488	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	577	0.00	0	C	NM_001159		201527626	201527626	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	silent	323	26.76	118	SNP	0.074	T
AP1B1	162	genome.wustl.edu	37	22	29750740	29750740	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:29750740T>C	ENST00000405198.1	-	6	868	c.837A>G	c.(835-837)acA>acG	p.T279T	AP1B1_ENST00000317368.7_Silent_p.T279T|AP1B1_ENST00000357586.2_Silent_p.T279T|AP1B1_ENST00000402502.1_Silent_p.T279T|AP1B1_ENST00000432560.2_Silent_p.T279T|AP1B1_ENST00000415447.1_Silent_p.T279T|AP1B1_ENST00000356015.2_Silent_p.T279T			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	279					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						TCTTGAGCAGTGTGCCGTAGT	0.557																																						dbGAP											0													160.0	119.0	133.0					22																	29750740		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.837A>G	22.37:g.29750740T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.T279	ENST00000405198.1	37	c.837	CCDS13855.1	22																																																																																			AP1B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu	ENSG00000100280		0.557	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	101	0.00	0	T	NM_001127		29750740	29750740	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	silent	93	10.48	11	SNP	0.434	C
AP2B1	163	genome.wustl.edu	37	17	33935377	33935377	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33935377C>T	ENST00000262325.7	+	5	1049	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	AP2B1_ENST00000538556.1_Missense_Mutation_p.R109W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R166W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R166W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R128W|AP2B1_ENST00000589344.1_Missense_Mutation_p.R166W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	166					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGATTCTCTACGGGATCTCAT	0.408																																						dbGAP											0													104.0	108.0	107.0					17																	33935377		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.496C>T	17.37:g.33935377C>T	ENSP00000262325:p.Arg166Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.R166W	ENST00000262325.7	37	c.496	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123577	0.77436	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.41	4.43	0.53597	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.84683	2.71	0.80722	D	1	D;D;D	0.71674	0.995;0.998;0.995	D;P;P	0.64410	0.925;0.907;0.72	T	0.59952	-0.7357	10	0.87932	D	0	-9.9798	12.6231	0.56614	0.3004:0.6996:0.0:0.0	.	128;166;166	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	W	166;166;109;166	ENSP00000262325:R166W;ENSP00000314414:R166W;ENSP00000440563:R109W;ENSP00000437413:R166W	ENSP00000262325:R166W	R	+	1	2	AP2B1	30959490	0.288000	0.24324	1.000000	0.80357	0.997000	0.91878	0.772000	0.26647	1.282000	0.44496	0.650000	0.86243	CGG	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu	ENSG00000006125		0.408	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	74	0.00	0	C			33935377	33935377	+1	no_errors	ENST00000312678	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	T
AP3B1	8546	genome.wustl.edu	37	5	77471610	77471610	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:77471610T>G	ENST00000255194.6	-	10	1268	c.1093A>C	c.(1093-1095)Aag>Cag	p.K365Q	AP3B1_ENST00000519295.1_Missense_Mutation_p.K316Q	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	365					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATACATACCTTTCTTTGAATT	0.303									Hermansky-Pudlak syndrome																													dbGAP											0													158.0	160.0	159.0					5																	77471610		2202	4297	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1093A>C	5.37:g.77471610T>G	ENSP00000255194:p.Lys365Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	p.K365Q	ENST00000255194.6	37	c.1093	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	T	16.02	3.002877	0.54254	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.13420	2.59;2.59	4.82	4.82	0.62117	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.048404	0.85682	D	0.000000	T	0.18551	0.0445	M	0.64567	1.98	0.54753	D	0.99998	P	0.37548	0.599	B	0.37943	0.261	T	0.01988	-1.1234	10	0.59425	D	0.04	-16.0737	14.3773	0.66886	0.0:0.0:0.0:1.0	.	365	O00203	AP3B1_HUMAN	Q	365;316;365;269	ENSP00000255194:K365Q;ENSP00000430597:K316Q	ENSP00000255194:K365Q	K	-	1	0	AP3B1	77507366	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	5.970000	0.70431	1.797000	0.52628	0.383000	0.25322	AAG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	ENSG00000132842		0.303	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	471	0.00	0	T			77471610	77471610	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	missense	312	14.29	52	SNP	1.000	G
AP3B2	8120	genome.wustl.edu	37	15	83331507	83331507	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:83331507G>A	ENST00000261722.3	-	22	2922	c.2715C>T	c.(2713-2715)ggC>ggT	p.G905G	AP3B2_ENST00000535348.1_Silent_p.G873G|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.G924G	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	905					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCACATGCAGGCCCTTGATGG	0.577																																						dbGAP											0													38.0	42.0	41.0					15																	83331507		2000	4152	6152	-	-	-	SO:0001819	synonymous_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2715C>T	15.37:g.83331507G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_complex_bsu	p.G905	ENST00000261722.3	37	c.2715	CCDS45331.1	15																																																																																			AP3B2	-	superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_complex_bsu	ENSG00000103723		0.577	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	96	0.00	0	G			83331507	83331507	-1	no_errors	ENST00000261722	ensembl	human	known	69_37n	silent	66	33.33	33	SNP	1.000	A
AP3M1	26985	genome.wustl.edu	37	10	75886111	75886111	+	Missense_Mutation	SNP	A	A	C	rs535082272		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:75886111A>C	ENST00000355264.4	-	7	1117	c.806T>G	c.(805-807)cTa>cGa	p.L269R	AP3M1_ENST00000372745.1_Missense_Mutation_p.L269R	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	269	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TATTGCCACTAGACTAAAAAG	0.408													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21007	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													72.0	63.0	66.0					10																	75886111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.806T>G	10.37:g.75886111A>C	ENSP00000347408:p.Leu269Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L269R	ENST00000355264.4	37	c.806	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	A	22.4	4.291595	0.80914	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.19938	2.11;2.11	5.52	5.52	0.82312	Clathrin adaptor, mu subunit, C-terminal (3);	0.072921	0.53938	D	0.000049	T	0.39937	0.1097	M	0.70595	2.14	0.80722	D	1	P;P	0.44690	0.841;0.592	B;P	0.52710	0.396;0.707	T	0.23332	-1.0191	10	0.62326	D	0.03	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	215;269	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	R	269	ENSP00000347408:L269R;ENSP00000361831:L269R	ENSP00000347408:L269R	L	-	2	0	AP3M1	75556117	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.957000	0.93082	2.088000	0.63022	0.533000	0.62120	CTA	AP3M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000185009		0.408	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	137	0.00	0	A			75886111	75886111	-1	no_errors	ENST00000355264	ensembl	human	known	69_37n	missense	113	14.39	19	SNP	1.000	C
AP4E1	23431	genome.wustl.edu	37	15	51260498	51260498	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:51260498T>G	ENST00000261842.5	+	15	1996	c.1890T>G	c.(1888-1890)gcT>gcG	p.A630A	AP4E1_ENST00000560508.1_Silent_p.A555A	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	630					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTTTTGTGGCTGAAGGACTCA	0.348																																						dbGAP											0													51.0	48.0	49.0					15																	51260498		2196	4294	6490	-	-	-	SO:0001819	synonymous_variant	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1890T>G	15.37:g.51260498T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.A630	ENST00000261842.5	37	c.1890	CCDS32240.1	15																																																																																			AP4E1	-	superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.348	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	395	0.00	0	T			51260498	51260498	+1	no_errors	ENST00000261842	ensembl	human	known	69_37n	silent	354	13.66	56	SNP	0.998	G
APAF1	317	genome.wustl.edu	37	12	99042154	99042154	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:99042154G>A	ENST00000551964.1	+	2	753	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	APAF1_ENST00000549007.1_Missense_Mutation_p.R6Q|APAF1_ENST00000357310.1_Missense_Mutation_p.R6Q|APAF1_ENST00000550527.1_Missense_Mutation_p.R6Q|APAF1_ENST00000339433.3_Missense_Mutation_p.R6Q|APAF1_ENST00000547743.1_Missense_Mutation_p.R6Q|APAF1_ENST00000547045.1_Missense_Mutation_p.R6Q|APAF1_ENST00000552268.1_Missense_Mutation_p.R6Q|APAF1_ENST00000333991.1_Missense_Mutation_p.R6Q|APAF1_ENST00000359972.2_Missense_Mutation_p.R6Q	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	6	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GCAAAAGCTCGAAATTGTTTG	0.378																																						dbGAP											0													181.0	196.0	191.0					12																	99042154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.17G>A	12.37:g.99042154G>A	ENSP00000448165:p.Arg6Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.R6Q	ENST00000551964.1	37	c.17	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.854139	0.97030	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.96	5.96	0.96718	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;P;P;D;D	0.74348	0.931;0.896;0.851;0.937;0.983	T	0.39623	-0.9605	10	0.52906	T	0.07	-4.7187	20.4082	0.99013	0.0:0.0:1.0:0.0	.	6;6;6;6;6	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Q	6	ENSP00000448165:R6Q;ENSP00000353059:R6Q;ENSP00000349862:R6Q;ENSP00000341830:R6Q;ENSP00000334558:R6Q;ENSP00000450175:R6Q;ENSP00000448826:R6Q;ENSP00000448449:R6Q;ENSP00000449791:R6Q;ENSP00000448161:R6Q	ENSP00000334558:R6Q	R	+	2	0	APAF1	97566285	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.104000	0.64584	2.814000	0.96858	0.655000	0.94253	CGA	APAF1	-	pfam_CARD,superfamily_DEATH-like,pirsf_Apoptotic_pept-activating_1,pfscan_CARD	ENSG00000120868		0.378	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	79	0.00	0	G	NM_181861.1		99042154	99042154	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	1.000	A
APAF1	317	genome.wustl.edu	37	12	99065489	99065489	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:99065489G>A	ENST00000551964.1	+	12	2521	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	APAF1_ENST00000549007.1_Silent_p.L595L|APAF1_ENST00000357310.1_Silent_p.L595L|APAF1_ENST00000550527.1_Silent_p.L584L|APAF1_ENST00000339433.3_Silent_p.L595L|APAF1_ENST00000547045.1_Silent_p.L595L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Silent_p.L584L	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	595					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGCTTTACCTGGAATGGATGT	0.438																																						dbGAP											0													95.0	97.0	96.0					12																	99065489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1785G>A	12.37:g.99065489G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.L595	ENST00000551964.1	37	c.1785	CCDS9069.1	12																																																																																			APAF1	-	pirsf_Apoptotic_pept-activating_1	ENSG00000120868		0.438	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	213	0.00	0	G	NM_181861.1		99065489	99065489	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	silent	151	15.56	28	SNP	1.000	A
APAF1	317	genome.wustl.edu	37	12	99076931	99076931	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:99076931C>A	ENST00000551964.1	+	15	2793	c.2057C>A	c.(2056-2058)tCt>tAt	p.S686Y	APAF1_ENST00000549007.1_Missense_Mutation_p.S686Y|APAF1_ENST00000357310.1_Missense_Mutation_p.S686Y|APAF1_ENST00000550527.1_Missense_Mutation_p.S675Y|APAF1_ENST00000339433.3_Missense_Mutation_p.S686Y|APAF1_ENST00000547045.1_Missense_Mutation_p.S686Y|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.S675Y	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	686					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATTTGGAATTCTATGACTGGG	0.398																																						dbGAP											0													95.0	84.0	88.0					12																	99076931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2057C>A	12.37:g.99076931C>A	ENSP00000448165:p.Ser686Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S686Y	ENST00000551964.1	37	c.2057	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782449	0.70222	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.80909	1.63;2.26;5.06;-1.43;1.63;5.06;-1.43	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.168955	0.52532	D	0.000068	D	0.85048	0.5608	L	0.29908	0.895	0.80722	D	1	D;D;D;P;D	0.89917	0.988;0.997;0.993;0.933;1.0	P;D;P;B;D	0.87578	0.629;0.956;0.863;0.352;0.998	D	0.84375	0.0546	10	0.41790	T	0.15	-16.6408	19.3706	0.94481	0.0:1.0:0.0:0.0	.	686;686;675;686;675	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	Y	686;675;686;686;675;686;686	ENSP00000448165:S686Y;ENSP00000353059:S675Y;ENSP00000349862:S686Y;ENSP00000341830:S686Y;ENSP00000448449:S675Y;ENSP00000449791:S686Y;ENSP00000448161:S686Y	ENSP00000341830:S686Y	S	+	2	0	APAF1	97601062	0.976000	0.34144	1.000000	0.80357	0.943000	0.58893	2.351000	0.44071	2.676000	0.91093	0.655000	0.94253	TCT	APAF1	-	superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120868		0.398	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	346	0.00	0	C	NM_181861.1		99076931	99076931	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	missense	171	14.07	28	SNP	0.988	A
APAF1	317	genome.wustl.edu	37	12	99080547	99080547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:99080547G>T	ENST00000551964.1	+	16	2936	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	APAF1_ENST00000549007.1_Nonsense_Mutation_p.E734*|APAF1_ENST00000357310.1_Nonsense_Mutation_p.E734*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.E723*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.E734*|APAF1_ENST00000547045.1_Nonsense_Mutation_p.E734*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.E723*	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	734					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAATCAAAAAGAATGTCGAAA	0.343																																						dbGAP											0													110.0	104.0	106.0					12																	99080547		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2200G>T	12.37:g.99080547G>T	ENSP00000448165:p.Glu734*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.E734*	ENST00000551964.1	37	c.2200	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	G	44	10.632623	0.99441	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	.	.	.	5.54	2.68	0.31781	.	0.656519	0.16224	N	0.223934	.	.	.	.	.	.	0.45108	D	0.99812	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-25.1353	4.5212	0.11960	0.0741:0.115:0.4018:0.4091	.	.	.	.	X	734;723;734;734;723;734;734	.	ENSP00000341830:E734X	E	+	1	0	APAF1	97604678	0.000000	0.05858	0.984000	0.44739	0.934000	0.57294	-0.025000	0.12413	0.279000	0.22186	-0.819000	0.03115	GAA	APAF1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120868		0.343	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	412	0.24	1	G	NM_181861.1		99080547	99080547	+1	no_errors	ENST00000551964	ensembl	human	known	69_37n	nonsense	213	27.30	80	SNP	0.764	T
APBA1	320	genome.wustl.edu	37	9	72064697	72064697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:72064697G>A	ENST00000265381.4	-	10	2206	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	662	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCTCCTTTCTGCTTCTCTATG	0.498																																						dbGAP											0													55.0	53.0	54.0					9																	72064697		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1984C>T	9.37:g.72064697G>A	ENSP00000265381:p.Gln662*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14914|O60570|Q5VYR8	Nonsense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.Q662*	ENST00000265381.4	37	c.1984	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.424618	0.98806	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.78	5.78	0.91487	.	0.131736	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-18.9693	20.0124	0.97464	0.0:0.0:1.0:0.0	.	.	.	.	X	662	.	ENSP00000265381:Q662X	Q	-	1	0	APBA1	71254517	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.688000	0.74557	2.749000	0.94314	0.655000	0.94253	CAG	APBA1	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000107282		0.498	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	90	0.00	0	G	NM_001163		72064697	72064697	-1	no_errors	ENST00000265381	ensembl	human	known	69_37n	nonsense	63	17.11	13	SNP	1.000	A
APBB1	322	genome.wustl.edu	37	11	6432248	6432248	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6432248G>T	ENST00000609360.1	-	2	429	c.330C>A	c.(328-330)ccC>ccA	p.P110P	APBB1_ENST00000299402.6_Silent_p.P110P|APBB1_ENST00000311051.3_Silent_p.P110P|APBB1_ENST00000389906.2_Silent_p.P110P	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	110					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCAGGCCTTTGGGGCCCAAGG	0.632																																					GBM(147;1810 2556 5672 39622)	dbGAP											0													164.0	178.0	173.0					11																	6432248		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.330C>A	11.37:g.6432248G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.P110	ENST00000609360.1	37	c.330		11																																																																																			APBB1	-	NULL	ENSG00000166313		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	87	0.00	0	G	NM_001164		6432248	6432248	-1	no_errors	ENST00000389906	ensembl	human	known	69_37n	silent	83	17.00	17	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112102990	112102990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112102990G>T	ENST00000457016.1	+	4	705	c.325G>T	c.(325-327)Gag>Tag	p.E109*	APC_ENST00000508376.2_Nonsense_Mutation_p.E109*|APC_ENST00000257430.4_Nonsense_Mutation_p.E109*			P25054	APC_HUMAN	adenomatous polyposis coli	109	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCGTTCTGGAGAGTGCAGTCC	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0													97.0	94.0	95.0					5																	112102990		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.325G>T	5.37:g.112102990G>T	ENSP00000413133:p.Glu109*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E109*	ENST00000457016.1	37	c.325	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243755	0.79912	.	.	ENSG00000134982	ENST00000509732;ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.47	5.47	0.80525	.	0.108993	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.518	19.3285	0.94273	0.0:0.0:1.0:0.0	.	.	.	.	X	109;109;119;109;109;109	.	ENSP00000257430:E109X	E	+	1	0	APC	112130889	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.780000	0.85658	2.567000	0.86603	0.585000	0.79938	GAG	APC	-	NULL	ENSG00000134982		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	250	0.00	0	G	NM_000038		112102990	112102990	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	nonsense	185	10.63	22	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112154954	112154954	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112154954C>A	ENST00000457016.1	+	10	1605	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I	APC_ENST00000508376.2_Missense_Mutation_p.L409I|APC_ENST00000257430.4_Missense_Mutation_p.L409I			P25054	APC_HUMAN	adenomatous polyposis coli	409	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L409V(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCCTTCATCTTTTGGAACA	0.507		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Substitution - Missense(1)	ovary(1)	GRCh37	CD020833	APC	D							52.0	51.0	51.0					5																	112154954		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1225C>A	5.37:g.112154954C>A	ENSP00000413133:p.Leu409Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L409I	ENST00000457016.1	37	c.1225	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654676	0.88056	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	L	0.38175	1.15	0.80722	D	1	B;B	0.26577	0.153;0.153	B;B	0.43103	0.408;0.408	T	0.65286	-0.6205	10	0.62326	D	0.03	-14.1993	20.4191	0.99033	0.0:1.0:0.0:0.0	.	411;409	Q4LE70;P25054	.;APC_HUMAN	I	409;391;409;409;409	ENSP00000413133:L409I;ENSP00000423224:L391I;ENSP00000257430:L409I;ENSP00000427089:L409I;ENSP00000423828:L409I	ENSP00000257430:L409I	L	+	1	0	APC	112182853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.898000	0.63238	2.832000	0.97577	0.650000	0.86243	CTT	APC	-	superfamily_ARM-type_fold	ENSG00000134982		0.507	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	120	0.00	0	C	NM_000038		112154954	112154954	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	51	26.09	18	SNP	1.000	A
APC	324	genome.wustl.edu	37	5	112175388	112175388	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112175388C>T	ENST00000457016.1	+	16	4477	c.4097C>T	c.(4096-4098)gCt>gTt	p.A1366V	APC_ENST00000508376.2_Missense_Mutation_p.A1366V|APC_ENST00000257430.4_Missense_Mutation_p.A1366V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1366	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.A1366V(2)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAAGTGGTGCTCAGACACCC	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	4	Substitution - Missense(2)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(2)|soft_tissue(1)|skin(1)											74.0	73.0	73.0					5																	112175388		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4097C>T	5.37:g.112175388C>T	ENSP00000413133:p.Ala1366Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A1366V	ENST00000457016.1	37	c.4097	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657694	0.67586	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89810	-2.57;-2.57;-2.57	6.17	5.31	0.75309	.	0.048961	0.85682	N	0.000000	D	0.82481	0.5046	L	0.32530	0.975	0.51482	D	0.999922	B;B	0.28512	0.214;0.096	B;B	0.20767	0.031;0.021	T	0.78595	-0.2143	9	.	.	.	-18.8831	15.2208	0.73310	0.0:0.9326:0.0:0.0674	.	1368;1366	Q4LE70;P25054	.;APC_HUMAN	V	1366	ENSP00000413133:A1366V;ENSP00000257430:A1366V;ENSP00000427089:A1366V	.	A	+	2	0	APC	112203287	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.223000	0.72257	1.635000	0.50512	0.655000	0.94253	GCT	APC	-	NULL	ENSG00000134982		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	234	0.00	0	C	NM_000038		112175388	112175388	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	185	26.00	65	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112175490	112175490	+	Missense_Mutation	SNP	C	C	T	rs267600319		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112175490C>T	ENST00000457016.1	+	16	4579	c.4199C>T	c.(4198-4200)tCg>tTg	p.S1400L	APC_ENST00000508376.2_Missense_Mutation_p.S1400L|APC_ENST00000257430.4_Missense_Mutation_p.S1400L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1400	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1400*(6)|p.S1400fs*1(6)|p.Y1376fs*41(1)|p.?(1)|p.S1400L(1)|p.K1192fs*3(1)|p.S1400fs*5(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAGAGTCGTTCGATTGCCAGC	0.478		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	17	Deletion - Frameshift(9)|Substitution - Nonsense(6)|Unknown(1)|Substitution - Missense(1)	large_intestine(15)|soft_tissue(1)|skin(1)	GRCh37	CM995167	APC	M							109.0	102.0	104.0					5																	112175490		2202	4300	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4199C>T	5.37:g.112175490C>T	ENSP00000413133:p.Ser1400Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1400L	ENST00000457016.1	37	c.4199	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245123	0.79912	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91894	-2.93;-2.93;-2.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.93788	0.7090	9	.	.	.	-9.695	20.4898	0.99202	0.0:1.0:0.0:0.0	.	1402;1400	Q4LE70;P25054	.;APC_HUMAN	L	1400	ENSP00000413133:S1400L;ENSP00000257430:S1400L;ENSP00000427089:S1400L	.	S	+	2	0	APC	112203389	1.000000	0.71417	0.721000	0.30653	0.765000	0.43378	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	TCG	APC	-	NULL	ENSG00000134982		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	342	0.29	1	C	NM_000038		112175490	112175490	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	313	14.95	55	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112176706	112176706	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112176706C>A	ENST00000457016.1	+	16	5795	c.5415C>A	c.(5413-5415)ttC>ttA	p.F1805L	APC_ENST00000508376.2_Missense_Mutation_p.F1805L|APC_ENST00000257430.4_Missense_Mutation_p.F1805L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1805	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAGAGTTTTCTCAGACAACA	0.318		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)											43.0	42.0	42.0					5																	112176706		2202	4294	6496	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5415C>A	5.37:g.112176706C>A	ENSP00000413133:p.Phe1805Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.F1805L	ENST00000457016.1	37	c.5415	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	9.979	1.227636	0.22542	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88509	-2.39;-2.39;-2.39	6.07	4.18	0.49190	.	0.135819	0.52532	D	0.000068	T	0.73473	0.3591	N	0.08118	0	0.28059	N	0.933062	B;B	0.17465	0.022;0.022	B;B	0.16722	0.016;0.01	T	0.60182	-0.7313	9	.	.	.	-7.116	5.8663	0.18777	0.0:0.6754:0.0:0.3246	.	1807;1805	Q4LE70;P25054	.;APC_HUMAN	L	1805	ENSP00000413133:F1805L;ENSP00000257430:F1805L;ENSP00000427089:F1805L	.	F	+	3	2	APC	112204605	0.764000	0.28473	1.000000	0.80357	0.828000	0.46876	1.633000	0.37113	1.447000	0.47661	0.650000	0.86243	TTC	APC	-	NULL	ENSG00000134982		0.318	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	128	0.00	0	C	NM_000038		112176706	112176706	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	122	11.59	16	SNP	0.998	A
APC	324	genome.wustl.edu	37	5	112177959	112177959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112177959C>A	ENST00000457016.1	+	16	7048	c.6668C>A	c.(6667-6669)tCa>tAa	p.S2223*	APC_ENST00000508376.2_Nonsense_Mutation_p.S2223*|APC_ENST00000257430.4_Nonsense_Mutation_p.S2223*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2223	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACATGCCTTCAATCTCTCGA	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											74.0	80.0	78.0					5																	112177959		2198	4296	6494	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6668C>A	5.37:g.112177959C>A	ENSP00000413133:p.Ser2223*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S2223*	ENST00000457016.1	37	c.6668	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.797165	0.99604	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.02	6.02	0.97574	.	0.175767	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.9837	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	X	2223	.	.	S	+	2	0	APC	112205858	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.063000	0.41423	2.857000	0.98124	0.650000	0.86243	TCA	APC	-	pfam_APC_basic_dom	ENSG00000134982		0.398	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	119	0.00	0	C	NM_000038		112177959	112177959	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	nonsense	89	22.61	26	SNP	1.000	A
APH1A	51107	genome.wustl.edu	37	1	150240037	150240037	+	Intron	SNP	G	G	T	rs16835635	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150240037G>T	ENST00000369109.3	-	3	547				APH1A_ENST00000414276.2_Intron|APH1A_ENST00000360244.4_Intron|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_Intron	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCCACTTAGAACATGTGGA	0.517																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.358+78C>A	1.37:g.150240037G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	RNA	SNP	-	NULL	ENST00000369109.3	37	NULL	CCDS41390.1	1																																																																																			APH1A	-	-	ENSG00000117362		0.517	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	36	0.00	0	G	NM_016022		150240037	150240037	-1	no_errors	ENST00000486720	ensembl	human	known	69_37n	rna	22	24.14	7	SNP	0.056	T
APH1B	83464	genome.wustl.edu	37	15	63571492	63571492	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:63571492C>T	ENST00000261879.5	+	2	316	c.246C>T	c.(244-246)atC>atT	p.I82I	APH1B_ENST00000380343.4_Silent_p.I82I	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	82					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTCTATATCCAAGAAATGT	0.358																																						dbGAP											0													115.0	115.0	115.0					15																	63571492		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.246C>T	15.37:g.63571492C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Silent	SNP	pfam_Aph-1	p.I82	ENST00000261879.5	37	c.246	CCDS10184.1	15																																																																																			APH1B	-	pfam_Aph-1	ENSG00000138613		0.358	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1	199	0.00	0	C	NM_031301		63571492	63571492	+1	no_errors	ENST00000261879	ensembl	human	known	69_37n	silent	118	30.59	52	SNP	0.981	T
API5	8539	genome.wustl.edu	37	11	43342392	43342392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:43342392G>T	ENST00000531273.1	+	3	392	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	API5_ENST00000455725.2_Nonsense_Mutation_p.E74*|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Nonsense_Mutation_p.E85*|API5_ENST00000420461.2_Nonsense_Mutation_p.E31*|API5_ENST00000378852.3_Nonsense_Mutation_p.E85*			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	85	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGCAATTAAAGAACTGCCTCA	0.338																																					Pancreas(1;98 122 5625 20895 49453)	dbGAP											0													93.0	99.0	97.0					11																	43342392		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.253G>T	11.37:g.43342392G>T	ENSP00000431391:p.Glu85*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Nonsense_Mutation	SNP	pfam_API5,superfamily_ARM-type_fold	p.E85*	ENST00000531273.1	37	c.253	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.623094	0.98396	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	.	.	.	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-15.4959	20.4703	0.99162	0.0:0.0:1.0:0.0	.	.	.	.	X	74;85;31;85;85	.	ENSP00000368129:E85X	E	+	1	0	API5	43298968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.793000	0.99091	2.937000	0.99478	0.650000	0.86243	GAA	API5	-	pfam_API5,superfamily_ARM-type_fold	ENSG00000166181		0.338	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	303	0.00	0	G	NM_006595		43342392	43342392	+1	no_errors	ENST00000531273	ensembl	human	known	69_37n	nonsense	134	22.09	38	SNP	1.000	T
CORT	1325	genome.wustl.edu	37	1	10511647	10511647	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:10511647A>G	ENST00000377049.3	+	2	818	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1-CORT_ENST00000470413.2_3'UTR|CORT_ENST00000320498.4_Missense_Mutation_p.K155E|APITD1_ENST00000602787.1_Missense_Mutation_p.K164E|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.K164E	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CTCCTCCTGCAAATAAAACCT	0.532																																						dbGAP											0													13.0	15.0	14.0					1																	10511647		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.313A>G	1.37:g.10511647A>G	ENSP00000366248:p.Lys105Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6G0|Q6UX11	Missense_Mutation	SNP	pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold	p.K164E	ENST00000377049.3	37	c.490	CCDS117.2	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219557	0.79464	.	.	ENSG00000175279;ENSG00000251503;ENSG00000241563;ENSG00000241563	ENST00000556104;ENST00000400900;ENST00000377049;ENST00000320498	.	.	.	5.07	3.85	0.44370	.	0.123818	0.36740	N	0.002431	T	0.53270	0.1786	L	0.48362	1.52	0.27116	N	0.962243	D;D	0.89917	1.0;0.999	D;D	0.83275	0.994;0.996	T	0.41161	-0.9524	9	0.87932	D	0	.	9.1051	0.36692	0.8363:0.0:0.0:0.1637	.	105;164	O00230;Q8N2Z9-2	CORT_HUMAN;.	E	164;164;105;155	.	ENSP00000383692:K164E	K	+	1	0	APITD1-CORT;APITD1;CORT	10434234	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	2.649000	0.46656	2.219000	0.72066	0.533000	0.62120	AAA	APITD1-CORT	-	NULL	ENSG00000251503		0.532	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	APITD1-CORT	HGNC	protein_coding	OTTHUMT00000005410.3	31	0.00	0	A	NM_001302		10511647	10511647	+1	no_errors	ENST00000400900	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.996	G
APLF	200558	genome.wustl.edu	37	2	68753199	68753199	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:68753199T>C	ENST00000303795.4	+	6	800	c.629T>C	c.(628-630)gTa>gCa	p.V210A		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	210					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAAGGTAATGTAATCCAGGGA	0.318																																						dbGAP											0													49.0	51.0	50.0					2																	68753199		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.629T>C	2.37:g.68753199T>C	ENSP00000307004:p.Val210Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.V210A	ENST00000303795.4	37	c.629	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	t	9.200	1.028326	0.19512	.	.	ENSG00000169621	ENST00000303795	T	0.24350	1.86	4.67	3.47	0.39725	.	0.705055	0.13125	N	0.411867	T	0.16811	0.0404	N	0.22421	0.69	0.09310	N	1	B;B	0.25563	0.129;0.01	B;B	0.24848	0.056;0.003	T	0.19418	-1.0306	10	0.42905	T	0.14	.	7.4091	0.27007	0.0:0.1002:0.0:0.8998	.	210;210	F8WET0;Q8IW19	.;APLF_HUMAN	A	210	ENSP00000307004:V210A	ENSP00000307004:V210A	V	+	2	0	APLF	68606703	0.007000	0.16637	0.043000	0.18650	0.721000	0.41392	0.883000	0.28200	0.884000	0.36064	0.477000	0.44152	GTA	APLF	-	NULL	ENSG00000169621		0.318	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	51	0.00	0	T	NM_173545		68753199	68753199	+1	no_errors	ENST00000303795	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	0.121	C
APLP1	333	genome.wustl.edu	37	19	36368715	36368715	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:36368715G>T	ENST00000221891.4	+	12	1732	c.1540G>T	c.(1540-1542)Gat>Tat	p.D514Y	APLP1_ENST00000586861.1_Missense_Mutation_p.D508Y|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.D475Y	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	514					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGCCTCCAGATTCCAAGGA	0.572																																						dbGAP											0													50.0	50.0	50.0					19																	36368715		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1540G>T	19.37:g.36368715G>T	ENSP00000221891:p.Asp514Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.D514Y	ENST00000221891.4	37	c.1540	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	g	7.492	0.650825	0.14516	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.95069	-3.31;-3.6	5.47	3.31	0.37934	.	1.375920	0.04932	N	0.457031	D	0.87346	0.6154	N	0.08118	0	0.09310	N	0.999997	B;B;P;P	0.42649	0.0;0.241;0.786;0.681	B;B;B;B	0.37601	0.0;0.212;0.243;0.254	T	0.80783	-0.1228	10	0.66056	D	0.02	-1.3963	7.1132	0.25403	0.0872:0.0:0.7439:0.1688	.	508;475;514;514	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	Y	475;514	ENSP00000441501:D475Y;ENSP00000221891:D514Y	ENSP00000221891:D514Y	D	+	1	0	APLP1	41060555	0.502000	0.26107	0.991000	0.47740	0.952000	0.60782	2.837000	0.48191	0.678000	0.31325	-0.119000	0.15052	GAT	APLP1	-	NULL	ENSG00000105290		0.572	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	79	0.00	0	G	NM_001024807		36368715	36368715	+1	no_errors	ENST00000221891	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.297	T
APLP1	333	genome.wustl.edu	37	19	36369976	36369976	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:36369976G>T	ENST00000221891.4	+	16	1906	c.1714G>T	c.(1714-1716)Gca>Tca	p.A572S	APLP1_ENST00000586861.1_Splice_Site_p.A565S|RN7SL402P_ENST00000465059.1_RNA|APLP1_ENST00000537454.2_Splice_Site_p.A532S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	571					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCTGCAGGCACCAGCTGG	0.637																																						dbGAP											0													45.0	47.0	46.0					19																	36369976		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1714-1G>T	19.37:g.36369976G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.A572S	ENST00000221891.4	37	c.1714	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819986	0.32145	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.93811	-3.21;-3.29	5.0	3.92	0.45320	.	0.193270	0.25442	N	0.030646	D	0.84520	0.5490	N	0.14661	0.345	0.32000	N	0.603464	B;B;B;B	0.33694	0.421;0.141;0.341;0.094	B;B;B;B	0.30495	0.081;0.085;0.116;0.034	D	0.84020	0.0353	9	.	.	.	-9.4907	11.5306	0.50607	0.0:0.1794:0.8206:0.0	.	565;532;572;571	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	532;572	ENSP00000441501:A532S;ENSP00000221891:A572S	.	A	+	1	0	APLP1	41061816	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.039000	0.64185	2.299000	0.77371	0.655000	0.94253	GCA	APLP1	-	NULL	ENSG00000105290		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	60	0.00	0	G	NM_001024807	Missense_Mutation	36369976	36369976	+1	no_errors	ENST00000221891	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	0.995	T
APOA5	116519	genome.wustl.edu	37	11	116660863	116660863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:116660863C>T	ENST00000227665.4	-	3	1116	c.1082G>A	c.(1081-1083)aGc>aAc	p.S361N	APOA5_ENST00000542499.1_Missense_Mutation_p.S361N|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	361					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCCCAGATGGCTGTGGCCCTG	0.577																																						dbGAP											0													87.0	69.0	75.0					11																	116660863		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.1082G>A	11.37:g.116660863C>T	ENSP00000227665:p.Ser361Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.S361N	ENST00000227665.4	37	c.1082	CCDS8376.2	11	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219036	0.22373	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.69685	-0.42;-0.42	4.96	4.05	0.47172	.	0.592610	0.14962	N	0.288293	T	0.48333	0.1494	L	0.29908	0.895	0.09310	N	1	B;B	0.30068	0.267;0.099	B;B	0.22601	0.04;0.04	T	0.25082	-1.0142	10	0.15066	T	0.55	-6.1993	9.147	0.36939	0.0:0.9019:0.0:0.0981	.	358;361	B0YIW1;Q6Q788	.;APOA5_HUMAN	N	361	ENSP00000227665:S361N;ENSP00000445002:S361N	ENSP00000227665:S361N	S	-	2	0	APOA5	116166073	0.000000	0.05858	0.002000	0.10522	0.130000	0.20726	-0.012000	0.12699	1.311000	0.45024	-0.258000	0.10820	AGC	APOA5	-	NULL	ENSG00000110243		0.577	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	97	0.00	0	C			116660863	116660863	-1	no_errors	ENST00000227665	ensembl	human	known	69_37n	missense	86	17.31	18	SNP	0.003	T
APOA4	337	genome.wustl.edu	37	11	116692346	116692346	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:116692346C>T	ENST00000357780.3	-	3	542	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	143	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACCTGGGTGCGCAGCTGGTC	0.687																																						dbGAP											0													36.0	36.0	36.0					11																	116692346		2200	4296	6496	-	-	-	SO:0001583	missense	0				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.428G>A	11.37:g.116692346C>T	ENSP00000350425:p.Arg143His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.R143H	ENST00000357780.3	37	c.428	CCDS31681.1	11	.	.	.	.	.	.	.	.	.	.	C	7.699	0.692761	0.15039	.	.	ENSG00000110244	ENST00000357780	T	0.75589	-0.95	5.02	1.36	0.22044	Apolipoprotein/apolipophorin (1);	0.941356	0.08965	N	0.868119	T	0.67998	0.2953	L	0.54323	1.7	0.21416	N	0.999694	B	0.26975	0.165	B	0.25291	0.059	T	0.58278	-0.7664	10	0.54805	T	0.06	-10.5496	8.3194	0.32119	0.0:0.4933:0.0:0.5067	.	143	P06727	APOA4_HUMAN	H	143	ENSP00000350425:R143H	ENSP00000350425:R143H	R	-	2	0	APOA4	116197556	0.000000	0.05858	0.932000	0.37286	0.132000	0.20833	-0.346000	0.07760	0.399000	0.25367	0.462000	0.41574	CGC	APOA4	-	pfam_ApoA1_A4_E	ENSG00000110244		0.687	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	HGNC	protein_coding	OTTHUMT00000106279.2	49	0.00	0	C	NM_000482		116692346	116692346	-1	no_errors	ENST00000357780	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.229	T
APOB	338	genome.wustl.edu	37	2	21228053	21228053	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:21228053G>A	ENST00000233242.1	-	26	11814	c.11687C>T	c.(11686-11688)gCc>gTc	p.A3896V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3896					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A3896V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCCAAGTGGCATTATACAC	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											111.0	113.0	112.0					2																	21228053		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11687C>T	2.37:g.21228053G>A	ENSP00000233242:p.Ala3896Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A3896V	ENST00000233242.1	37	c.11687	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	6.266	0.417196	0.11870	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.20200	2.09	5.73	2.9	0.33743	.	0.787153	0.11337	N	0.574437	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	0.999995	B	0.24823	0.112	B	0.18871	0.023	T	0.32719	-0.9896	10	0.02654	T	1	.	7.98	0.30177	0.3971:0.0:0.6029:0.0	.	3896	P04114	APOB_HUMAN	V	3896	ENSP00000233242:A3896V	ENSP00000233242:A3896V	A	-	2	0	APOB	21081558	0.018000	0.18449	0.335000	0.25508	0.502000	0.33828	1.032000	0.30178	0.729000	0.32403	0.655000	0.94253	GCC	APOB	-	NULL	ENSG00000084674		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	137	0.00	0	G			21228053	21228053	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	0.010	A
APOB	338	genome.wustl.edu	37	2	21229644	21229644	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:21229644G>T	ENST00000233242.1	-	26	10223	c.10096C>A	c.(10096-10098)Ctc>Atc	p.L3366I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3366					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGAAAGGAGATGAGCAACA	0.393																																						dbGAP											0													118.0	112.0	114.0					2																	21229644		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10096C>A	2.37:g.21229644G>T	ENSP00000233242:p.Leu3366Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L3366I	ENST00000233242.1	37	c.10096	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225420	0.39300	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35789	1.29	5.63	1.88	0.25563	.	0.507607	0.19701	N	0.108034	T	0.19167	0.0460	L	0.31752	0.955	0.45979	D	0.998798	B	0.24483	0.104	B	0.19148	0.024	T	0.12451	-1.0547	10	0.35671	T	0.21	.	0.3745	0.00385	0.408:0.1417:0.1747:0.2756	.	3366	P04114	APOB_HUMAN	I	3366	ENSP00000233242:L3366I	ENSP00000233242:L3366I	L	-	1	0	APOB	21083149	0.087000	0.21565	0.791000	0.31998	0.987000	0.75469	0.513000	0.22770	0.065000	0.16485	0.655000	0.94253	CTC	APOB	-	NULL	ENSG00000084674		0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	53	0.00	0	G			21229644	21229644	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	0.379	T
APOB	338	genome.wustl.edu	37	2	21230820	21230820	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:21230820A>C	ENST00000233242.1	-	26	9047	c.8920T>G	c.(8920-8922)Ttg>Gtg	p.L2974V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2974					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATAAACCAAGTTTTGGTTT	0.398																																						dbGAP											0													117.0	121.0	120.0					2																	21230820		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8920T>G	2.37:g.21230820A>C	ENSP00000233242:p.Leu2974Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L2974V	ENST00000233242.1	37	c.8920	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	9.830	1.188223	0.21954	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00784	5.7	5.74	-8.16	0.01061	.	1.197100	0.06192	N	0.681593	T	0.00724	0.0024	L	0.50919	1.6	0.53005	D	0.99996	B	0.17465	0.022	B	0.14023	0.01	T	0.46911	-0.9157	10	0.36615	T	0.2	.	0.9889	0.01452	0.1821:0.168:0.2699:0.38	.	2974	P04114	APOB_HUMAN	V	2974	ENSP00000233242:L2974V	ENSP00000233242:L2974V	L	-	1	2	APOB	21084325	0.000000	0.05858	0.000000	0.03702	0.796000	0.44982	-2.693000	0.00829	-1.339000	0.02230	0.459000	0.35465	TTG	APOB	-	NULL	ENSG00000084674		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	241	0.00	0	A			21230820	21230820	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	169	15.08	30	SNP	0.000	C
APOB	338	genome.wustl.edu	37	2	21237331	21237331	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:21237331G>T	ENST00000233242.1	-	24	3958	c.3831C>A	c.(3829-3831)ctC>ctA	p.L1277L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1277					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTAAGAAGAGGTTTTCTG	0.378																																						dbGAP											0													101.0	100.0	101.0					2																	21237331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3831C>A	2.37:g.21237331G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L1277	ENST00000233242.1	37	c.3831	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	419	0.00	0	G			21237331	21237331	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	silent	282	26.18	100	SNP	0.999	T
APOBEC3G	60489	genome.wustl.edu	37	22	39474970	39474970	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:39474970C>A	ENST00000407997.3	+	2	408	c.51C>A	c.(49-51)ttC>ttA	p.F17L	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.F17L	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	17	Essential for cytoplasmic localization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GAGACACATTCTCCTACAACT	0.512																																						dbGAP											0													61.0	57.0	59.0					22																	39474970		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.51C>A	22.37:g.39474970C>A	ENSP00000385057:p.Phe17Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F17L	ENST00000407997.3	37	c.51	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404556	0.25378	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.74106	-0.81;-0.81	1.76	0.706	0.18133	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.73666	0.3616	M	0.86805	2.84	0.09310	N	1	B	0.25105	0.118	B	0.27796	0.083	T	0.67764	-0.5586	9	0.72032	D	0.01	.	4.0828	0.09934	0.0:0.7746:0.0:0.2254	.	17	Q9HC16	ABC3G_HUMAN	L	17	ENSP00000413376:F17L;ENSP00000385057:F17L	ENSP00000385057:F17L	F	+	3	2	APOBEC3G	37804916	0.087000	0.21565	0.005000	0.12908	0.002000	0.02628	1.449000	0.35123	0.283000	0.22279	0.462000	0.41574	TTC	APOBEC3G	-	pfam_APOBEC_N	ENSG00000239713		0.512	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	203	0.00	0	C	NM_021822		39474970	39474970	+1	no_errors	ENST00000407997	ensembl	human	known	69_37n	missense	105	13.93	17	SNP	0.006	A
APOL4	80832	genome.wustl.edu	37	22	36595647	36595647	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:36595647C>T	ENST00000397275.2	-	4	375	c.43G>A	c.(43-45)Gga>Aga	p.G15R	APOL4_ENST00000479929.1_Intron|APOL4_ENST00000332987.1_Intron|APOL4_ENST00000328429.4_Missense_Mutation_p.G15R|APOL4_ENST00000352371.1_Intron|APOL4_ENST00000404685.3_Intron|APOL4_ENST00000405511.1_Intron|APOL4_ENST00000429038.2_Intron			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	166					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						AGGAAAAGTCCGCTTGTCCTG	0.458																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"""Apolipoproteins"""	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000397275.2:c.43G>A	22.37:g.36595647C>T	ENSP00000380445:p.Gly15Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	NULL	p.G15R	ENST00000397275.2	37	c.43		22	.	.	.	.	.	.	.	.	.	.	c	1.526	-0.545666	0.04024	.	.	ENSG00000100336	ENST00000397275;ENST00000328429	.	.	.	1.85	-3.71	0.04424	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39313	-0.9620	5	0.87932	D	0	.	2.4551	0.04527	0.391:0.3215:0.0:0.2875	.	.	.	.	R	15	.	ENSP00000331089:G15R	G	-	1	0	APOL4	34925593	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.509000	0.02264	-1.031000	0.03308	-2.247000	0.00284	GGA	APOL4	-	NULL	ENSG00000100336		0.458	APOL4-004	PUTATIVE	basic	protein_coding	APOL4	HGNC	protein_coding	OTTHUMT00000319258.1	27	0.00	0	C	NM_145660		36595647	36595647	-1	no_errors	ENST00000328429	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.000	T
APOBEC3G	60489	genome.wustl.edu	37	22	39477143	39477143	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:39477143T>G	ENST00000407997.3	+	3	734	c.377T>G	c.(376-378)tTc>tGc	p.F126C	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.F126C	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	126					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CTCTACTACTTCTGGGACCCA	0.557																																						dbGAP											0													89.0	85.0	87.0					22																	39477143		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.377T>G	22.37:g.39477143T>G	ENSP00000385057:p.Phe126Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F126C	ENST00000407997.3	37	c.377	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	9.723	1.160279	0.21454	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.63744	-0.06;-0.06	2.03	-4.06	0.03986	.	.	.	.	.	T	0.62319	0.2418	L	0.39147	1.195	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.54721	-0.8251	9	0.44086	T	0.13	.	3.1528	0.06494	0.2573:0.0:0.2407:0.502	.	126	Q9HC16	ABC3G_HUMAN	C	126	ENSP00000413376:F126C;ENSP00000385057:F126C	ENSP00000385057:F126C	F	+	2	0	APOBEC3G	37807089	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-2.154000	0.01285	-1.900000	0.01097	-0.648000	0.03929	TTC	APOBEC3G	-	superfamily_Cytidine_deaminase-like	ENSG00000239713		0.557	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	137	0.00	0	T	NM_021822		39477143	39477143	+1	no_errors	ENST00000407997	ensembl	human	known	69_37n	missense	89	18.92	21	SNP	0.000	G
APOOL	139322	genome.wustl.edu	37	X	84309402	84309402	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:84309402A>G	ENST00000373173.2	+	4	380	c.293A>G	c.(292-294)aAa>aGa	p.K98R		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	98						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAATTTGGAAAAGGTAGGTGA	0.313																																						dbGAP											0													126.0	107.0	113.0					X																	84309402		1815	4060	5875	-	-	-	SO:0001583	missense	0			AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"""chromosome X open reading frame 33"", ""family with sequence similarity 121A"""	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.293A>G	X.37:g.84309402A>G	ENSP00000362268:p.Lys98Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNU7|Q5H9D1	Missense_Mutation	SNP	pfam_Apolipoprotein_O	p.K98R	ENST00000373173.2	37	c.293	CCDS48138.1	X	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458257	0.26161	.	.	ENSG00000155008	ENST00000373173;ENST00000373169	.	.	.	4.85	3.68	0.42216	.	0.206724	0.50627	N	0.000115	T	0.70176	0.3194	M	0.72576	2.205	0.35836	D	0.825688	D	0.89917	1.0	D	0.91635	0.999	T	0.72523	-0.4267	9	0.30854	T	0.27	-13.0292	8.9654	0.35874	0.9083:0.0:0.0917:0.0	.	98	Q6UXV4	APOOL_HUMAN	R	98	.	ENSP00000362264:K98R	K	+	2	0	APOOL	84196058	1.000000	0.71417	0.992000	0.48379	0.021000	0.10359	2.790000	0.47821	0.630000	0.30394	-0.321000	0.08615	AAA	APOOL	-	pfam_Apolipoprotein_O	ENSG00000155008		0.313	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOOL	HGNC	protein_coding	OTTHUMT00000057385.2	1100	0.00	0	A	NM_198450		84309402	84309402	+1	no_errors	ENST00000373173	ensembl	human	known	69_37n	missense	558	12.81	82	SNP	1.000	G
APP	351	genome.wustl.edu	37	21	27326925	27326925	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:27326925C>T	ENST00000346798.3	-	13	1699	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	APP_ENST00000348990.5_Missense_Mutation_p.E481K|APP_ENST00000358918.3_Missense_Mutation_p.E556K|APP_ENST00000448388.2_Missense_Mutation_p.E446K|APP_ENST00000354192.3_Missense_Mutation_p.E425K|APP_ENST00000359726.3_Missense_Mutation_p.E500K|APP_ENST00000357903.3_Missense_Mutation_p.E537K|APP_ENST00000440126.3_Missense_Mutation_p.E532K|APP_ENST00000439274.2_Missense_Mutation_p.E500K	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	556					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAATCTCCTCGGCCACTGCA	0.463																																						dbGAP											0													116.0	90.0	99.0					21																	27326925		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1666G>A	21.37:g.27326925C>T	ENSP00000284981:p.Glu556Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E556K	ENST00000346798.3	37	c.1666	CCDS13576.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.40|18.40	3.615293|3.615293	0.66672|0.66672	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209|ENST00000448850	T;T;T;T;T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Amyloidogenic glycoprotein, E2 domain (1);|.	0.152384|.	0.64402|.	D|.	0.000016|.	T|T	0.67069|0.67069	0.2854|0.2854	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999992|0.999992	P;P;P;P;P;P;P|.	0.49635|.	0.879;0.798;0.64;0.926;0.755;0.755;0.798|.	B;B;B;B;B;B;B|.	0.35859|.	0.105;0.105;0.041;0.212;0.089;0.089;0.088|.	T|T	0.62238|0.62238	-0.6896|-0.6896	10|5	0.72032|.	D|.	0.01|.	-22.3226|-22.3226	17.6521|17.6521	0.88167|0.88167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446;500;532;425;481;537;556|.	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;A4_HUMAN|.	K|Q	556;425;481;537;556;500;446;532;500;143|458	ENSP00000284981:E556K;ENSP00000346129:E425K;ENSP00000345463:E481K;ENSP00000350578:E537K;ENSP00000351796:E556K;ENSP00000352760:E500K;ENSP00000388538:E446K;ENSP00000387483:E532K;ENSP00000398879:E500K;ENSP00000397795:E143K|.	ENSP00000284981:E556K|.	E|R	-|-	1|2	0|0	APP|APP	26248796|26248796	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.992000|0.992000	0.81027|0.81027	3.485000|3.485000	0.53208|0.53208	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAG|CGA	APP	-	superfamily_Amyloid_glyco_E2_domain	ENSG00000142192		0.463	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	240	0.00	0	C	NM_000484		27326925	27326925	-1	no_errors	ENST00000346798	ensembl	human	known	69_37n	missense	202	12.55	29	SNP	0.997	T
LVRN	206338	genome.wustl.edu	37	5	115329550	115329550	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:115329550G>T	ENST00000357872.4	+	6	1497	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		458						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAACTCCCAAGAGTAAGTATG	0.279																																						dbGAP											0													55.0	55.0	55.0					5																	115329550		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000357872.4:c.1374+1G>T	5.37:g.115329550G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R458I	ENST00000357872.4	37	c.1373	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	6.179	0.401246	0.11696	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02177	4.41	5.47	-3.86	0.04230	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.680771	0.14818	N	0.296653	T	0.00906	0.0030	N	0.04805	-0.155	0.31010	N	0.719309	B	0.18310	0.027	B	0.18561	0.022	T	0.44081	-0.9351	10	0.21540	T	0.41	.	1.4861	0.02447	0.2758:0.0994:0.1585:0.4663	.	458	Q6Q4G3	AMPQ_HUMAN	I	458;447	ENSP00000350541:R458I	ENSP00000350541:R458I	R	+	2	0	AC010282.1	115357449	0.798000	0.28890	0.177000	0.23020	0.387000	0.30353	1.006000	0.29847	-0.338000	0.08413	0.650000	0.86243	AGA	LVRN	-	pfam_Peptidase_M1_N	ENSG00000172901		0.279	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Clone_based_vega_gene	protein_coding	OTTHUMT00000250852.1	234	0.00	0	G		Missense_Mutation	115329550	115329550	+1	no_errors	ENST00000357872	ensembl	human	known	69_37n	missense	128	16.88	26	SNP	0.014	T
LVRN	206338	genome.wustl.edu	37	5	115361749	115361749	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:115361749G>T	ENST00000357872.4	+	20	3031	c.2907G>T	c.(2905-2907)aaG>aaT	p.K969N	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		969						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGACAATAAAGAATGAAAATC	0.433																																						dbGAP											0													91.0	80.0	84.0					5																	115361749		2202	4300	6502	-	-	-	SO:0001583	missense	0																														ENST00000357872.4:c.2907G>T	5.37:g.115361749G>T	ENSP00000350541:p.Lys969Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.K969N	ENST00000357872.4	37	c.2907	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261564	0.80358	.	.	ENSG00000172901	ENST00000357872;ENST00000379578;ENST00000512413	T	0.01335	5.0	5.44	5.44	0.79542	.	0.208409	0.33272	N	0.005092	T	0.06142	0.0159	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.07616	-1.0763	10	0.72032	D	0.01	.	14.6374	0.68699	0.0:0.0:1.0:0.0	.	969	Q6Q4G3	AMPQ_HUMAN	N	969;958;68	ENSP00000350541:K969N	ENSP00000350541:K969N	K	+	3	2	AC010282.1	115389648	1.000000	0.71417	0.939000	0.37840	0.946000	0.59487	2.559000	0.45888	2.828000	0.97474	0.655000	0.94253	AAG	LVRN	-	NULL	ENSG00000172901		0.433	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Clone_based_vega_gene	protein_coding	OTTHUMT00000250852.1	229	0.43	1	G			115361749	115361749	+1	no_errors	ENST00000357872	ensembl	human	known	69_37n	missense	190	10.80	23	SNP	0.957	T
ARAF	369	genome.wustl.edu	37	X	47428972	47428972	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47428972C>T	ENST00000377045.4	+	13	1529	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGGTGAAGATCGGTGACTTTG	0.602											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													68.0	52.0	57.0					X																	47428972		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1335C>T	X.37:g.47428972C>T		Somatic	946	WXS	Illumina GAIIx	Phase_IV	P07557|Q5H9B2|Q5H9B3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I445	ENST00000377045.4	37	c.1335	CCDS35232.1	X																																																																																			ARAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000078061		0.602	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	125	0.00	0	C			47428972	47428972	+1	no_errors	ENST00000377045	ensembl	human	known	69_37n	silent	90	15.09	16	SNP	0.191	T
ARAP2	116984	genome.wustl.edu	37	4	36214110	36214110	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:36214110C>A	ENST00000303965.4	-	5	1531		c.e5-1			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGATCGCTTCTATTAAAAAA	0.333																																						dbGAP											0													82.0	78.0	79.0					4																	36214110		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1042-1G>T	4.37:g.36214110C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	SNP	-	e4-1	ENST00000303965.4	37	c.1042-1	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	8.516	0.867635	0.17250	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.64	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5077	0.11896	0.2144:0.6543:0.0:0.1313	.	.	.	.	.	-1	.	.	.	-	.	.	ARAP2	35890505	0.994000	0.37717	0.982000	0.44146	0.116000	0.19942	0.791000	0.26915	1.476000	0.48215	0.655000	0.94253	.	ARAP2	-	-	ENSG00000047365		0.333	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	369	0.00	0	C	NM_015230	Intron	36214110	36214110	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	splice_site	231	12.50	33	SNP	0.966	A
ARAP2	116984	genome.wustl.edu	37	4	36214928	36214928	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:36214928C>A	ENST00000303965.4	-	4	1467	c.978G>T	c.(976-978)gaG>gaT	p.E326D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	326					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.E326D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAGATGAATTCTCCTCATTTG	0.313																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											62.0	67.0	66.0					4																	36214928		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.978G>T	4.37:g.36214928C>A	ENSP00000302895:p.Glu326Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E326D	ENST00000303965.4	37	c.978	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846280	0.32606	.	.	ENSG00000047365	ENST00000303965	T	0.08896	3.04	5.57	1.4	0.22301	.	0.232737	0.36002	N	0.002857	T	0.03564	0.0102	N	0.17474	0.49	0.21897	N	0.999489	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.44159	-0.9346	10	0.10111	T	0.7	.	3.7018	0.08386	0.3483:0.4571:0.0:0.1945	.	256;326	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	D	326	ENSP00000302895:E326D	ENSP00000302895:E326D	E	-	3	2	ARAP2	35891323	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	0.058000	0.14301	0.316000	0.23135	0.591000	0.81541	GAG	ARAP2	-	NULL	ENSG00000047365		0.313	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	258	0.00	0	C	NM_015230		36214928	36214928	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	missense	136	29.17	56	SNP	0.999	A
ARAP3	64411	genome.wustl.edu	37	5	141039455	141039455	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:141039455C>T	ENST00000239440.4	-	22	3223	c.3158G>A	c.(3157-3159)cGg>cAg	p.R1053Q	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R715Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.R884Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1053	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGCCAAGTTCCGCGTGCACAT	0.552																																						dbGAP											0													59.0	49.0	53.0					5																	141039455		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3158G>A	5.37:g.141039455C>T	ENSP00000239440:p.Arg1053Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT1|D3DQE3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.R1053Q	ENST00000239440.4	37	c.3158	CCDS4266.1	5	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461080	0.84317	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.17854	2.25;2.25;2.25	5.19	5.19	0.71726	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.063684	0.64402	D	0.000019	T	0.14141	0.0342	N	0.13235	0.315	0.38643	D	0.951666	P;D;D	0.67145	0.604;0.995;0.996	B;P;P	0.52793	0.19;0.661;0.709	T	0.03534	-1.1027	10	0.34782	T	0.22	.	6.6259	0.22828	0.0:0.7914:0.0:0.2086	.	715;884;1053	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	Q	884;1053;715	ENSP00000421826:R884Q;ENSP00000239440:R1053Q;ENSP00000421468:R715Q	ENSP00000239440:R1053Q	R	-	2	0	ARAP3	141019639	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	4.500000	0.60387	2.711000	0.92665	0.655000	0.94253	CGG	ARAP3	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000120318		0.552	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	185	0.00	0	C	NM_022481		141039455	141039455	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	missense	108	25.00	36	SNP	0.998	T
AREG	374	genome.wustl.edu	37	4	75316115	75316115	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:75316115C>T	ENST00000395748.3	+	4	743	c.531C>T	c.(529-531)ttC>ttT	p.F177F	AREG_ENST00000502307.1_Silent_p.F177F|AREG_ENST00000264487.2_Silent_p.F177F|AREG_ENST00000511560.1_3'UTR	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	177	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			AAGAATATTTCGGTGAACGGT	0.378																																						dbGAP											0													11.0	14.0	14.0					4																	75316115		206	1804	2010	-	-	-	SO:0001819	synonymous_variant	0			M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.531C>T	4.37:g.75316115C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U026	Silent	SNP	pfscan_EG-like_dom	p.F177	ENST00000395748.3	37	c.531	CCDS3565.1	4																																																																																			AREG	-	pfscan_EG-like_dom	ENSG00000109321		0.378	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AREG	HGNC	protein_coding	OTTHUMT00000252277.1	79	0.00	0	C			75316115	75316115	+1	no_errors	ENST00000264487	ensembl	human	known	69_37n	silent	45	10.00	5	SNP	1.000	T
ARFGEF1	10565	genome.wustl.edu	37	8	68179665	68179665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:68179665C>A	ENST00000262215.3	-	11	1974	c.1585G>T	c.(1585-1587)Gaa>Taa	p.E529*	ARFGEF1_ENST00000520381.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	529					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.E529*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGAAAATTTCTTTAAAGAAC	0.318																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											40.0	45.0	43.0					8																	68179665		2193	4291	6484	-	-	-	SO:0001587	stop_gained	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1585G>T	8.37:g.68179665C>A	ENSP00000262215:p.Glu529*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E529*	ENST00000262215.3	37	c.1585	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	42	9.544910	0.99201	.	.	ENSG00000066777	ENST00000262215	.	.	.	5.64	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9102	0.79467	0.1365:0.8635:0.0:0.0	.	.	.	.	X	529	.	ENSP00000262215:E529X	E	-	1	0	ARFGEF1	68342219	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	7.412000	0.80091	1.369000	0.46134	-0.188000	0.12872	GAA	ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.318	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	168	0.00	0	C	NM_006421		68179665	68179665	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	nonsense	100	14.53	17	SNP	1.000	A
ARFIP1	27236	genome.wustl.edu	37	4	153750861	153750861	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:153750861G>A	ENST00000451320.2	+	2	240	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	ARFIP1_ENST00000356064.3_Missense_Mutation_p.E26K|ARFIP1_ENST00000353617.2_Missense_Mutation_p.E26K|ARFIP1_ENST00000429148.2_Missense_Mutation_p.E26K|ARFIP1_ENST00000405727.2_Missense_Mutation_p.E26K			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	26					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)		p.E26*(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TGACTCTCGTGAACATAGCTT	0.338																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)											134.0	140.0	138.0					4																	153750861		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.76G>A	4.37:g.153750861G>A	ENSP00000395083:p.Glu26Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.E26K	ENST00000451320.2	37	c.76	CCDS34080.1	4	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405154	0.83230	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	D;D;D;D	0.83335	-1.7;-1.7;-1.71;-1.71	5.65	5.65	0.86999	.	0.099228	0.64402	D	0.000002	D	0.89413	0.6708	L	0.53249	1.67	0.58432	D	0.999998	P;D;D	0.69078	0.532;0.995;0.997	B;D;D	0.73380	0.059;0.936;0.98	D	0.89703	0.3906	10	0.66056	D	0.02	-11.3261	18.4954	0.90863	0.0:0.0:1.0:0.0	.	26;26;26	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	K	26	ENSP00000395083:E26K;ENSP00000296557:E26K;ENSP00000384189:E26K;ENSP00000348360:E26K	ENSP00000296557:E26K	E	+	1	0	ARFIP1	153970311	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	6.167000	0.71902	2.654000	0.90174	0.557000	0.71058	GAA	ARFIP1	-	NULL	ENSG00000164144		0.338	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1	568	0.00	0	G	NM_014447		153750861	153750861	+1	no_errors	ENST00000353617	ensembl	human	known	69_37n	missense	420	13.91	68	SNP	1.000	A
ARG1	383	genome.wustl.edu	37	6	131904514	131904514	+	Missense_Mutation	SNP	C	C	A	rs538034569		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:131904514C>A	ENST00000368087.3	+	7	824	c.685C>A	c.(685-687)Cta>Ata	p.L229I	ARG1_ENST00000356962.2_Missense_Mutation_p.L237I|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	229					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GCCAATTCATCTAAGTTTTGA	0.398																																						dbGAP											0													112.0	109.0	110.0					6																	131904514		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.685C>A	6.37:g.131904514C>A	ENSP00000357066:p.Leu229Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.L237I	ENST00000368087.3	37	c.709	CCDS5145.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082699	0.76528	.	.	ENSG00000118520	ENST00000368087;ENST00000356962	D;T	0.97553	-4.43;0.58	6.02	2.16	0.27623	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	M	0.77712	2.385	0.80722	D	1	P;P	0.46020	0.844;0.871	P;P	0.58780	0.759;0.845	D	0.96033	0.9018	10	0.62326	D	0.03	-11.9525	11.7639	0.51920	0.0:0.8318:0.0:0.1682	.	237;229	P05089-2;P05089	.;ARGI1_HUMAN	I	229;237	ENSP00000357066:L229I;ENSP00000349446:L237I	ENSP00000349446:L237I	L	+	1	2	ARG1	131946207	0.183000	0.23186	0.995000	0.50966	0.997000	0.91878	0.300000	0.19156	0.105000	0.17753	0.655000	0.94253	CTA	ARG1	-	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	ENSG00000118520		0.398	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG1	HGNC	protein_coding	OTTHUMT00000042223.1	472	0.00	0	C			131904514	131904514	+1	no_errors	ENST00000356962	ensembl	human	known	69_37n	missense	278	22.13	79	SNP	1.000	A
ARG2	384	genome.wustl.edu	37	14	68087650	68087650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:68087650G>T	ENST00000261783.3	+	2	331	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	51					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TGCCATAAGAGAAGCTGGCTT	0.418																																						dbGAP											0													175.0	162.0	166.0					14																	68087650		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.151G>T	14.37:g.68087650G>T	ENSP00000261783:p.Glu51*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R690|Q6FHY8	Nonsense_Mutation	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.E51*	ENST00000261783.3	37	c.151	CCDS9785.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.822355	0.97865	.	.	ENSG00000081181	ENST00000261783	.	.	.	4.91	4.91	0.64330	.	0.275199	0.40908	N	0.001000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	15.1197	0.72432	0.0:0.0:1.0:0.0	.	.	.	.	X	51	.	ENSP00000261783:E51X	E	+	1	0	ARG2	67157403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.262000	0.51538	2.558000	0.86282	0.655000	0.94253	GAA	ARG2	-	pfam_Ureohydrolase,tigrfam_Arginase	ENSG00000081181		0.418	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	HGNC	protein_coding	OTTHUMT00000415190.2	973	0.00	0	G	NM_001172		68087650	68087650	+1	no_errors	ENST00000261783	ensembl	human	known	69_37n	nonsense	540	28.76	218	SNP	1.000	T
ARGLU1	55082	genome.wustl.edu	37	13	107211877	107211877	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:107211877C>T	ENST00000400198.3	-	2	720	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ARGLU1_ENST00000375926.1_Missense_Mutation_p.E9K|ARGLU1_ENST00000472226.1_5'Flank	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	159	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTCCACCCTTCGGAGAACTTC	0.473																																						dbGAP											0													170.0	167.0	168.0					13																	107211877		1900	4126	6026	-	-	-	SO:0001583	missense	0			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.476G>A	13.37:g.107211877C>T	ENSP00000383059:p.Arg159Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	NULL	p.R159Q	ENST00000400198.3	37	c.476	CCDS41906.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.194823|5.194823	0.94960|0.94960	.|.	.|.	ENSG00000134884|ENSG00000134884	ENST00000375926;ENST00000360629|ENST00000400198;ENST00000426600	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.063133	.|0.64402	.|D	.|0.000004	T|T	0.72407|0.72407	0.3456|0.3456	M|M	0.84585|0.84585	2.705|2.705	0.33230|0.33230	D|D	0.555858|0.555858	.|D	.|0.67145	.|0.996	.|P	.|0.50570	.|0.644	T|T	0.83011|0.83011	-0.0172|-0.0172	6|9	0.87932|0.72032	D|D	0|0.01	-4.2596|-4.2596	19.451|19.451	0.94867|0.94867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|159	.|Q9NWB6	.|ARGL1_HUMAN	K|Q	9|159;109	.|.	ENSP00000353844:E9K|ENSP00000383059:R159Q	E|R	-|-	1|2	0|0	ARGLU1|ARGLU1	106009878|106009878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.398000|7.398000	0.79919|0.79919	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GAA|CGA	ARGLU1	-	NULL	ENSG00000134884		0.473	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	HGNC	protein_coding	OTTHUMT00000045727.1	326	0.00	0	C	NM_018011		107211877	107211877	-1	no_errors	ENST00000400198	ensembl	human	known	69_37n	missense	214	11.89	29	SNP	1.000	T
ARHGAP11A	9824	genome.wustl.edu	37	15	32920994	32920994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:32920994G>T	ENST00000361627.3	+	7	1650	c.928G>T	c.(928-930)Gaa>Taa	p.E310*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E121*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E310*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E310*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E121*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	310					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ACCTCAAGAAGAAAGAATTGG	0.249																																					Colon(45;757 1134 30003 36652)	dbGAP											0													40.0	43.0	42.0					15																	32920994		2198	4281	6479	-	-	-	SO:0001587	stop_gained	0			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.928G>T	15.37:g.32920994G>T	ENSP00000355090:p.Glu310*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E310*	ENST00000361627.3	37	c.928	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	43	10.314707	0.99381	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	4.99	4.99	0.66335	.	0.331370	0.26103	N	0.026335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8299	0.92133	0.0:0.0:1.0:0.0	.	.	.	.	X	310;121	.	ENSP00000355090:E310X	E	+	1	0	ARHGAP11A	30708286	1.000000	0.71417	0.503000	0.27626	0.427000	0.31564	8.421000	0.90259	2.753000	0.94483	0.467000	0.42956	GAA	ARHGAP11A	-	NULL	ENSG00000198826		0.249	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	129	0.00	0	G	NM_014783		32920994	32920994	+1	no_errors	ENST00000361627	ensembl	human	known	69_37n	nonsense	59	28.92	24	SNP	0.995	T
ARHGAP11A	9824	genome.wustl.edu	37	15	32928050	32928050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:32928050C>T	ENST00000361627.3	+	11	2139	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.R284*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.R473*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.R445*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.R284*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	473					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R473*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTAAAAAATCGAATTGAATC	0.313																																					Colon(45;757 1134 30003 36652)	dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											68.0	67.0	67.0					15																	32928050		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1417C>T	15.37:g.32928050C>T	ENSP00000355090:p.Arg473*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZN9|Q6PI96|Q9Y3S6	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R473*	ENST00000361627.3	37	c.1417	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	40	8.363373	0.98779	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	.	.	.	6.06	2.5	0.30297	.	0.391477	0.24796	N	0.035522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4595	0.16610	0.4561:0.2615:0.2824:0.0	.	.	.	.	X	473;284	.	ENSP00000355090:R473X	R	+	1	2	ARHGAP11A	30715342	0.007000	0.16637	0.326000	0.25389	0.574000	0.36063	0.426000	0.21363	0.187000	0.20147	-0.275000	0.10095	CGA	ARHGAP11A	-	NULL	ENSG00000198826		0.313	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	171	0.00	0	C	NM_014783		32928050	32928050	+1	no_errors	ENST00000361627	ensembl	human	known	69_37n	nonsense	98	16.95	20	SNP	0.009	T
ARHGAP12	94134	genome.wustl.edu	37	10	32096536	32096536	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:32096536G>T	ENST00000344936.2	-	0	2825				ARHGAP12_ENST00000375250.5_3'UTR|ARHGAP12_ENST00000396144.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000375245.4_3'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ATAAACATTTGAAATCTGATG	0.378																																						dbGAP											0													32.0	32.0	32.0					10																	32096536		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.*50C>A	10.37:g.32096536G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	RNA	SNP	-	NULL	ENST00000344936.2	37	NULL	CCDS7170.1	10																																																																																			ARHGAP12	-	-	ENSG00000165322		0.378	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	72	0.00	0	G			32096536	32096536	-1	no_errors	ENST00000492028	ensembl	human	known	69_37n	rna	56	13.85	9	SNP	0.081	T
ARHGAP19	84986	genome.wustl.edu	37	10	99023380	99023380	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99023380C>T	ENST00000358531.4	-	4	438	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R128Q|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R137Q|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R137Q|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R128Q|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.R137Q	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	137	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		ACCCTCTACTCGCAAGTCTGT	0.373																																						dbGAP											0													81.0	80.0	80.0					10																	99023380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.410G>A	10.37:g.99023380C>T	ENSP00000351333:p.Arg137Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R137Q	ENST00000358531.4	37	c.410	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888589	0.72524	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.87	5.87	0.94306	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.072802	0.56097	U	0.000037	T	0.20373	0.0490	N	0.11255	0.115	0.43708	D	0.996178	P;P;D	0.67145	0.953;0.858;0.996	B;B;P	0.56865	0.307;0.357;0.808	T	0.12344	-1.0551	10	0.22109	T	0.4	-4.9677	20.197	0.98244	0.0:1.0:0.0:0.0	.	137;137;128	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	Q	137;137;128;137;128;137	ENSP00000414774:R137Q;ENSP00000324468:R137Q;ENSP00000347526:R128Q;ENSP00000351333:R137Q;ENSP00000360066:R128Q;ENSP00000351058:R137Q	ENSP00000324468:R137Q	R	-	2	0	ARHGAP19	99013370	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.609000	0.67661	2.775000	0.95449	0.655000	0.94253	CGA	ARHGAP19	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000213390		0.373	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19	HGNC	protein_coding	OTTHUMT00000049647.2	73	0.00	0	C	NM_032900		99023380	99023380	-1	no_errors	ENST00000453547	ensembl	human	known	69_37n	missense	88	22.12	25	SNP	1.000	T
ARHGAP20	57569	genome.wustl.edu	37	11	110495028	110495028	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:110495028T>C	ENST00000260283.4	-	5	645	c.361A>G	c.(361-363)Aat>Gat	p.N121D	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.N95D|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.N98D|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.N85D|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.N85D|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.N95D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	121	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTAAAGTTATTGTTATATCTA	0.328																																						dbGAP											0													17.0	18.0	18.0					11																	110495028		2187	4283	6470	-	-	-	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.361A>G	11.37:g.110495028T>C	ENSP00000260283:p.Asn121Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.N121D	ENST00000260283.4	37	c.361	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	T	10.76	1.439990	0.25900	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.87	5.87	0.94306	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.330859	0.35436	N	0.003210	T	0.24198	0.0586	L	0.34521	1.04	0.30221	N	0.796796	P;P	0.38767	0.514;0.646	B;B	0.39027	0.15;0.288	T	0.21280	-1.0250	10	0.38643	T	0.18	.	9.5171	0.39113	0.1571:0.0:0.0:0.8429	.	121;98	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	121;95;98;85;95;85	ENSP00000260283:N121D;ENSP00000349660:N95D;ENSP00000432076:N98D;ENSP00000436319:N85D;ENSP00000436522:N95D;ENSP00000431399:N85D	ENSP00000260283:N121D	N	-	1	0	ARHGAP20	110000238	1.000000	0.71417	0.992000	0.48379	0.002000	0.02628	4.197000	0.58413	2.248000	0.74166	0.533000	0.62120	AAT	ARHGAP20	-	smart_Pleckstrin_homology	ENSG00000137727		0.328	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	142	0.00	0	T	NM_020809		110495028	110495028	-1	no_errors	ENST00000260283	ensembl	human	known	69_37n	missense	90	13.46	14	SNP	1.000	C
ARHGAP21	57584	genome.wustl.edu	37	10	24908458	24908458	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:24908458C>A	ENST00000396432.2	-	9	2852	c.2366G>T	c.(2365-2367)aGa>aTa	p.R789I	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R576I	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	788					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CGAGGCTTTTCTTTCCTCCAT	0.473																																						dbGAP											0													95.0	97.0	96.0					10																	24908458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2366G>T	10.37:g.24908458C>A	ENSP00000379709:p.Arg789Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R789I	ENST00000396432.2	37	c.2366	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442524	0.63067	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.25	5.25	0.73442	.	0.215286	0.44902	D	0.000406	T	0.63153	0.2487	L	0.43152	1.355	0.41784	D	0.989831	D;D	0.69078	0.997;0.983	D;P	0.70016	0.967;0.83	T	0.64508	-0.6391	10	0.59425	D	0.04	.	12.5658	0.56308	0.0:0.9235:0.0:0.0765	.	779;788	F8W9U9;Q5T5U3	.;RHG21_HUMAN	I	789;576;779;789;624	ENSP00000379709:R789I;ENSP00000365604:R576I;ENSP00000365592:R779I;ENSP00000405018:R789I	ENSP00000365604:R576I	R	-	2	0	ARHGAP21	24948464	1.000000	0.71417	0.981000	0.43875	0.768000	0.43524	2.644000	0.46613	2.590000	0.87494	0.655000	0.94253	AGA	ARHGAP21	-	NULL	ENSG00000107863		0.473	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	382	0.00	0	C	NM_020824		24908458	24908458	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	missense	223	13.23	34	SNP	0.966	A
ARHGAP26	23092	genome.wustl.edu	37	5	142500707	142500707	+	Missense_Mutation	SNP	G	G	A	rs374932134		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:142500707G>A	ENST00000274498.4	+	18	2071	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.E565K	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	565	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.E565K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAACCACGAAAAGGTAAT	0.428																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											97.0	89.0	92.0					5																	142500707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1693G>A	5.37:g.142500707G>A	ENSP00000274498:p.Glu565Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E565K	ENST00000274498.4	37	c.1693	CCDS4277.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425991	0.83667	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668	T;T	0.23147	1.92;1.92	5.38	5.38	0.77491	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.101035	0.64402	D	0.000003	T	0.39627	0.1085	M	0.63169	1.94	0.80722	D	1	D;B;P	0.56035	0.974;0.276;0.608	P;B;B	0.49361	0.608;0.096;0.258	T	0.24977	-1.0145	10	0.56958	D	0.05	.	19.1627	0.93541	0.0:0.0:1.0:0.0	.	565;138;565	Q9UNA1;B3KT96;Q9UNA1-2	RHG26_HUMAN;.;.	K	565;565;138	ENSP00000274498:E565K;ENSP00000367243:E565K	ENSP00000274498:E565K	E	+	1	0	ARHGAP26	142480900	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.655000	0.83696	2.515000	0.84797	0.655000	0.94253	GAA	ARHGAP26	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000145819		0.428	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	301	0.00	0	G	NM_015071		142500707	142500707	+1	no_errors	ENST00000274498	ensembl	human	known	69_37n	missense	184	30.30	80	SNP	1.000	A
ARHGAP28	79822	genome.wustl.edu	37	18	6870700	6870700	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:6870700C>T	ENST00000383472.4	+	7	1027	c.923C>T	c.(922-924)tCa>tTa	p.S308L	RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S149L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S149L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S144L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S256L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S149L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S131L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S308L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	308					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTTAAGAAATCAGAGATTAAG	0.348																																						dbGAP											0													67.0	77.0	74.0					18																	6870700		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.923C>T	18.37:g.6870700C>T	ENSP00000372964:p.Ser308Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S308L	ENST00000383472.4	37	c.923		18	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877866	0.33162	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08896	3.2;3.16;3.1;3.11;3.1;3.04	5.22	1.06	0.20224	.	0.570338	0.18876	N	0.128703	T	0.07279	0.0184	L	0.46157	1.445	0.26135	N	0.980354	B;B;B;B	0.12013	0.005;0.001;0.002;0.001	B;B;B;B	0.10450	0.002;0.002;0.005;0.005	T	0.30119	-0.9989	10	0.31617	T	0.26	.	6.9545	0.24563	0.246:0.6166:0.0:0.1374	.	308;140;149;256	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	308;256;149;144;149;149;140;131	ENSP00000382963:S308L;ENSP00000262227:S256L;ENSP00000392660:S149L;ENSP00000437262:S144L;ENSP00000313506:S149L;ENSP00000406907:S149L	ENSP00000262227:S256L	S	+	2	0	ARHGAP28	6860700	0.986000	0.35501	0.622000	0.29159	0.959000	0.62525	1.432000	0.34936	0.265000	0.21872	0.655000	0.94253	TCA	ARHGAP28	-	NULL	ENSG00000088756		0.348	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	72	0.00	0	C	XM_371108		6870700	6870700	+1	no_errors	ENST00000400091	ensembl	human	known	69_37n	missense	59	20.27	15	SNP	0.680	T
ARHGAP29	9411	genome.wustl.edu	37	1	94640033	94640033	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94640033C>A	ENST00000260526.6	-	23	3360	c.3178G>T	c.(3178-3180)Gac>Tac	p.D1060Y	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1060					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTAGCAGCGTCTTTTCTATTA	0.373																																						dbGAP											0													116.0	117.0	117.0					1																	94640033		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3178G>T	1.37:g.94640033C>A	ENSP00000260526:p.Asp1060Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.D1060Y	ENST00000260526.6	37	c.3178	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453553	0.63290	.	.	ENSG00000137962	ENST00000260526	T	0.22743	1.94	5.73	3.61	0.41365	.	0.000000	0.40385	N	0.001104	T	0.19644	0.0472	L	0.46157	1.445	0.58432	D	0.999999	D	0.69078	0.997	P	0.59221	0.854	T	0.00675	-1.1615	10	0.62326	D	0.03	-12.4911	6.4326	0.21805	0.1361:0.6537:0.1321:0.0781	.	1060	Q52LW3	RHG29_HUMAN	Y	1060	ENSP00000260526:D1060Y	ENSP00000260526:D1060Y	D	-	1	0	ARHGAP29	94412621	0.998000	0.40836	0.995000	0.50966	0.667000	0.39255	2.107000	0.41844	2.713000	0.92767	0.591000	0.81541	GAC	ARHGAP29	-	NULL	ENSG00000137962		0.373	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	247	0.00	0	C	NM_004815		94640033	94640033	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	159	16.15	31	SNP	0.800	A
ARHGAP29	9411	genome.wustl.edu	37	1	94645488	94645488	+	Missense_Mutation	SNP	C	C	T	rs41311170		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94645488C>T	ENST00000260526.6	-	20	2455	c.2273G>A	c.(2272-2274)cGa>cAa	p.R758Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	758	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTTGTACAATCGAAATAAAAT	0.289																																						dbGAP											0													80.0	78.0	79.0					1																	94645488		2202	4293	6495	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2273G>A	1.37:g.94645488C>T	ENSP00000260526:p.Arg758Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.R758Q	ENST00000260526.6	37	c.2273	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.114781	0.94339	.	.	ENSG00000137962	ENST00000260526	T	0.21031	2.03	6.07	5.15	0.70609	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.32518	N	0.005986	T	0.32704	0.0838	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.966;0.997	T	0.00948	-1.1504	10	0.56958	D	0.05	-10.478	15.6717	0.77283	0.0:0.9338:0.0:0.0662	.	758;758	F8VWZ8;Q52LW3	.;RHG29_HUMAN	Q	758	ENSP00000260526:R758Q	ENSP00000260526:R758Q	R	-	2	0	ARHGAP29	94418076	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	3.699000	0.54778	2.890000	0.99128	0.650000	0.86243	CGA	ARHGAP29	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000137962		0.289	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	147	0.00	0	C	NM_004815		94645488	94645488	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	85	32.00	40	SNP	0.999	T
ARHGAP29	9411	genome.wustl.edu	37	1	94668239	94668239	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94668239C>T	ENST00000260526.6	-	11	1186	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.R335H	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	335					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCATCTTGACGTTGCATGCA	0.378																																						dbGAP											0													159.0	143.0	148.0					1																	94668239		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1004G>A	1.37:g.94668239C>T	ENSP00000260526:p.Arg335His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.R335H	ENST00000260526.6	37	c.1004	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767347	0.90020	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.45668	0.89;0.89	6.07	4.99	0.66335	.	0.000000	0.38058	N	0.001829	T	0.61714	0.2369	M	0.85777	2.775	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.65874	0.917;0.939	T	0.66689	-0.5860	10	0.87932	D	0	-18.6807	16.2806	0.82678	0.0:0.927:0.0:0.073	.	335;335	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	H	335	ENSP00000260526:R335H;ENSP00000359237:R335H	ENSP00000260526:R335H	R	-	2	0	ARHGAP29	94440827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.351000	0.66022	2.885000	0.99019	0.655000	0.94253	CGT	ARHGAP29	-	NULL	ENSG00000137962		0.378	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	319	0.00	0	C	NM_004815		94668239	94668239	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	174	12.56	25	SNP	1.000	T
ARHGAP31	57514	genome.wustl.edu	37	3	119087250	119087250	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:119087250C>A	ENST00000264245.4	+	3	767	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	79	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGTCCAGATCTGACAAGGGA	0.517																																					Pancreas(7;176 297 5394 51128 51241)	dbGAP											0													131.0	125.0	127.0					3																	119087250		1968	4153	6121	-	-	-	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.235C>A	3.37:g.119087250C>A	ENSP00000264245:p.Leu79Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L79M	ENST00000264245.4	37	c.235	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994791	0.74703	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.20200	2.09;2.09	5.51	5.51	0.81932	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.56097	D	0.000022	T	0.50582	0.1624	M	0.86502	2.82	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.55114	-0.8191	10	0.87932	D	0	.	12.3374	0.55075	0.0:0.9199:0.0:0.0801	.	79	Q2M1Z3	RHG31_HUMAN	M	79;79;50	ENSP00000264245:L79M;ENSP00000418429:L50M	ENSP00000264245:L79M	L	+	1	2	ARHGAP31	120569940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.609000	0.46317	2.873000	0.98535	0.561000	0.74099	CTG	ARHGAP31	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000031081		0.517	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	168	0.00	0	C			119087250	119087250	+1	no_errors	ENST00000264245	ensembl	human	known	69_37n	missense	132	26.67	48	SNP	1.000	A
ARHGAP32	9743	genome.wustl.edu	37	11	128843044	128843044	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:128843044C>T	ENST00000310343.9	-	21	3314	c.3315G>A	c.(3313-3315)gaG>gaA	p.E1105E	ARHGAP32_ENST00000392657.3_Silent_p.E756E|ARHGAP32_ENST00000527272.1_Silent_p.E756E|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1105					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGTGGAACTGCTCTGCTGGTC	0.478																																						dbGAP											0													201.0	187.0	192.0					11																	128843044		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3315G>A	11.37:g.128843044C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E1105	ENST00000310343.9	37	c.3315	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	325	0.00	0	C	NM_014715		128843044	128843044	-1	no_errors	ENST00000310343	ensembl	human	known	69_37n	silent	167	20.10	42	SNP	0.890	T
ARHGAP35	2909	genome.wustl.edu	37	19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CAGCCTGTTTCGAGAAGACAC	0.478																																						dbGAP											0													63.0	62.0	63.0					19																	47424921		1939	4149	6088	-	-	-	SO:0001587	stop_gained	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2989C>T	19.37:g.47424921C>T	ENSP00000385720:p.Arg997*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R997*	ENST00000404338.3	37	c.2989	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.316244	0.98757	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.76	3.57	0.40892	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.3842	10.1905	0.43024	0.2739:0.5937:0.1324:0.0	.	.	.	.	X	997	.	ENSP00000324820:R997X	R	+	1	2	ARHGAP35	52116761	0.001000	0.12720	0.999000	0.59377	0.993000	0.82548	-0.110000	0.10824	0.737000	0.32582	0.655000	0.94253	CGA	ARHGAP35	-	NULL	ENSG00000160007		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	67	0.00	0	C	NM_004491		47424921	47424921	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	nonsense	47	12.96	7	SNP	1.000	T
ARHGAP36	158763	genome.wustl.edu	37	X	130217158	130217158	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:130217158G>A	ENST00000276211.5	+	3	618	c.273G>A	c.(271-273)ccG>ccA	p.P91P	ARHGAP36_ENST00000370922.1_Silent_p.P79P|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	91					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P91P(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGACCGTCCGAACACCTTGG	0.413																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											108.0	109.0	109.0					X																	130217158		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.273G>A	X.37:g.130217158G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P91	ENST00000276211.5	37	c.273	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL	ENSG00000147256		0.413	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	430	0.00	0	G	NM_144967		130217158	130217158	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	silent	220	13.73	35	SNP	0.991	A
ARHGAP5	394	genome.wustl.edu	37	14	32562420	32562420	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:32562420C>A	ENST00000345122.3	+	2	2860	c.2545C>A	c.(2545-2547)Cat>Aat	p.H849N	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H849N|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H849N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H849N|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	849					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGAACTAGTTCATGGGTATAT	0.373																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													43.0	44.0	44.0					14																	32562420		2201	4290	6491	-	-	-	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2545C>A	14.37:g.32562420C>A	ENSP00000371897:p.His849Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.H849N	ENST00000345122.3	37	c.2545	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224366	0.58668	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.73225	-0.4050	10	0.72032	D	0.01	.	15.031	0.71708	0.0:0.9314:0.0:0.0686	.	849;849	Q13017-2;Q13017	.;RHG05_HUMAN	N	849	ENSP00000452222:H849N;ENSP00000441692:H849N;ENSP00000371897:H849N;ENSP00000393307:H849N	ENSP00000371897:H849N	H	+	1	0	ARHGAP5	31632171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.745000	0.85046	1.524000	0.49035	0.650000	0.86243	CAT	ARHGAP5	-	NULL	ENSG00000100852		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	42	0.00	0	C	NM_001030055		32562420	32562420	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	missense	36	30.77	16	SNP	1.000	A
ARHGAP9	64333	genome.wustl.edu	37	12	57872536	57872536	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57872536C>T	ENST00000356411.2	-	3	459	c.321G>A	c.(319-321)ccG>ccA	p.P107P	ARHGAP9_ENST00000393791.3_Silent_p.P107P|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Silent_p.P178P|ARHGAP9_ENST00000424809.2_Silent_p.P107P|ARHGAP9_ENST00000550288.1_Silent_p.P186P			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	107					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAAACAACTTCGGCCCTGGAA	0.562																																						dbGAP											0													37.0	37.0	37.0					12																	57872536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.321G>A	12.37:g.57872536C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.P107	ENST00000356411.2	37	c.321		12																																																																																			ARHGAP9	-	NULL	ENSG00000123329		0.562	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		139	0.00	0	C	NM_032496		57872536	57872536	-1	no_errors	ENST00000356411	ensembl	human	known	69_37n	silent	65	28.57	26	SNP	0.010	T
ARHGEF10	9639	genome.wustl.edu	37	8	1842705	1842705	+	Silent	SNP	C	C	T	rs147974725		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:1842705C>T	ENST00000398564.1	+	13	1482	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	ARHGEF10_ENST00000520359.1_Silent_p.S431S|ARHGEF10_ENST00000262112.6_Silent_p.S494S|ARHGEF10_ENST00000518288.1_Silent_p.S494S|ARHGEF10_ENST00000398560.1_Silent_p.S455S|ARHGEF10_ENST00000349830.3_Silent_p.S469S			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	494	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AGTGGGACTCCGTGGAAATGA	0.547																																						dbGAP											0													84.0	78.0	80.0					8																	1842705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1482C>T	8.37:g.1842705C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.S494	ENST00000398564.1	37	c.1482		8																																																																																			ARHGEF10	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000104728		0.547	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		65	0.00	0	C			1842705	1842705	+1	no_errors	ENST00000398564	ensembl	human	known	69_37n	silent	34	22.73	10	SNP	0.011	T
ARHGEF10	9639	genome.wustl.edu	37	8	1876716	1876716	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:1876716G>A	ENST00000398564.1	+	24	2896	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E903K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E937K|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E965K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E941K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	966					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGTTCCCGTCGAGGAGAAGCG	0.587																																						dbGAP											0													111.0	106.0	108.0					8																	1876716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2896G>A	8.37:g.1876716G>A	ENSP00000381571:p.Glu966Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.E966K	ENST00000398564.1	37	c.2896		8	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101833	0.56183	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.03;-0.03	5.44	1.32	0.21799	.	0.352780	0.31936	N	0.006830	T	0.47948	0.1473	L	0.52573	1.65	0.44562	D	0.997524	P;P	0.49961	0.93;0.777	B;B	0.40375	0.327;0.103	T	0.50127	-0.8864	10	0.07813	T	0.8	-22.3458	10.7321	0.46102	0.0683:0.3718:0.5599:0.0	.	903;941	O15013-7;O15013-5	.;.	K	941;903;965;966;937;585	ENSP00000340297:E941K;ENSP00000427909:E903K;ENSP00000431012:E965K;ENSP00000381571:E966K;ENSP00000262112:E937K;ENSP00000427768:E585K	ENSP00000262112:E937K	E	+	1	0	ARHGEF10	1864123	1.000000	0.71417	0.000000	0.03702	0.014000	0.08584	3.437000	0.52863	-0.043000	0.13513	0.655000	0.94253	GAG	ARHGEF10	-	superfamily_WD40_repeat_dom	ENSG00000104728		0.587	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		186	0.00	0	G			1876716	1876716	+1	no_errors	ENST00000398564	ensembl	human	known	69_37n	missense	96	25.38	33	SNP	0.254	A
ARHGEF12	23365	genome.wustl.edu	37	11	120278467	120278467	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:120278467G>A	ENST00000397843.2	+	3	243	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	26					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATTTTGAACCGAGAGTCACCA	0.328			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													145.0	134.0	137.0					11																	120278467		1903	4147	6050	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.77G>A	11.37:g.120278467G>A	ENSP00000380942:p.Arg26Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R26Q	ENST00000397843.2	37	c.77	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.520827	0.96416	.	.	ENSG00000196914	ENST00000397843;ENST00000356641	T;T	0.69306	-0.33;-0.39	5.65	5.65	0.86999	.	0.000000	0.38492	N	0.001677	T	0.71409	0.3336	N	0.24115	0.695	0.44937	D	0.99795	D;D	0.76494	0.998;0.999	P;P	0.62184	0.899;0.844	T	0.73300	-0.4026	10	0.52906	T	0.07	-8.9993	19.7179	0.96131	0.0:0.0:1.0:0.0	.	26;26	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	Q	26	ENSP00000380942:R26Q;ENSP00000349056:R26Q	ENSP00000349056:R26Q	R	+	2	0	ARHGEF12	119783677	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.081000	0.64444	2.675000	0.91044	0.650000	0.86243	CGA	ARHGEF12	-	superfamily_PDZ	ENSG00000196914		0.328	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	265	0.00	0	G	NM_015313		120278467	120278467	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	153	26.79	56	SNP	1.000	A
ARHGEF12	23365	genome.wustl.edu	37	11	120317156	120317156	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:120317156T>C	ENST00000397843.2	+	17	1556	c.1390T>C	c.(1390-1392)Tat>Cat	p.Y464H	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.Y361H|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.Y445H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	464	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GCATCGCCACTATATCCAAAC	0.363			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													97.0	90.0	92.0					11																	120317156		1887	4132	6019	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1390T>C	11.37:g.120317156T>C	ENSP00000380942:p.Tyr464His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Y445H	ENST00000397843.2	37	c.1333	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569650	0.65765	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.82984	-1.67;-1.67;-1.67	6.17	6.17	0.99709	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.44688	D	0.000421	D	0.83547	0.5278	M	0.67953	2.075	0.42842	D	0.99405	B;B;B	0.25169	0.119;0.081;0.099	B;B;B	0.32762	0.1;0.094;0.152	T	0.79546	-0.1759	10	0.28530	T	0.3	-14.8858	16.8222	0.85835	0.0:0.0:0.0:1.0	.	361;445;464	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	H	464;445;361	ENSP00000380942:Y464H;ENSP00000349056:Y445H;ENSP00000432984:Y361H	ENSP00000349056:Y445H	Y	+	1	0	ARHGEF12	119822366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.658000	0.46733	2.371000	0.80710	0.533000	0.62120	TAT	ARHGEF12	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam	ENSG00000196914		0.363	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	248	0.00	0	T	NM_015313		120317156	120317156	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	175	26.16	62	SNP	1.000	C
ARHGEF12	23365	genome.wustl.edu	37	11	120348899	120348899	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:120348899G>A	ENST00000397843.2	+	37	3733	c.3567G>A	c.(3565-3567)tcG>tcA	p.S1189S	ARHGEF12_ENST00000532993.1_Silent_p.S1086S|ARHGEF12_ENST00000356641.3_Silent_p.S1170S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1189					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTTAATATCGTCAAAACCTC	0.378			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													82.0	74.0	76.0					11																	120348899		1850	4096	5946	-	-	-	SO:0001819	synonymous_variant	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3567G>A	11.37:g.120348899G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1170	ENST00000397843.2	37	c.3510	CCDS41727.1	11																																																																																			ARHGEF12	-	NULL	ENSG00000196914		0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	111	0.00	0	G	NM_015313		120348899	120348899	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	silent	111	11.11	14	SNP	0.056	A
ARHGEF25	115557	genome.wustl.edu	37	12	58007866	58007866	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:58007866T>C	ENST00000286494.4	+	6	1080	c.620T>C	c.(619-621)tTt>tCt	p.F207S	AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.F246S	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	207	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGGATTGTGTTTGGGAATATC	0.552																																						dbGAP											0													106.0	104.0	105.0					12																	58007866		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.620T>C	12.37:g.58007866T>C	ENSP00000286494:p.Phe207Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F246S	ENST00000286494.4	37	c.737	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	t	32	5.119101	0.94385	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	D;D	0.84298	-1.83;-1.83	4.83	4.83	0.62350	Dbl homology (DH) domain (5);	0.000000	0.38837	N	0.001542	D	0.95802	0.8634	H	0.99368	4.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97373	0.9977	10	0.87932	D	0	.	13.6982	0.62593	0.0:0.0:0.0:1.0	.	246;207;81	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	S	246;81;207	ENSP00000335560:F246S;ENSP00000286494:F207S	ENSP00000286494:F207S	F	+	2	0	ARHGEF25	56294133	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.563000	0.82314	1.952000	0.56665	0.460000	0.39030	TTT	ARHGEF25	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000240771		0.552	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	133	0.00	0	T	NM_133483		58007866	58007866	+1	no_errors	ENST00000333972	ensembl	human	known	69_37n	missense	43	27.87	17	SNP	1.000	C
ARHGEF26	26084	genome.wustl.edu	37	3	153973138	153973138	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:153973138G>A	ENST00000356448.4	+	15	2776	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R831Q	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	831	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GAGGGGGAACGACTACGAGAT	0.463																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	dbGAP											0													139.0	137.0	138.0					3																	153973138		1962	4154	6116	-	-	-	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2492G>A	3.37:g.153973138G>A	ENSP00000348828:p.Arg831Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R831Q	ENST00000356448.4	37	c.2492	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.379353	0.95945	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66288	-0.5961	10	0.87932	D	0	-16.4877	19.8936	0.96942	0.0:0.0:1.0:0.0	.	831	Q96DR7	ARHGQ_HUMAN	Q	831	ENSP00000348828:R831Q;ENSP00000423418:R831Q	ENSP00000348828:R831Q	R	+	2	0	ARHGEF26	155455832	1.000000	0.71417	0.068000	0.19968	0.989000	0.77384	9.210000	0.95106	2.793000	0.96121	0.655000	0.94253	CGA	ARHGEF26	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000114790		0.463	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	332	0.00	0	G	NM_015595		153973138	153973138	+1	no_errors	ENST00000356448	ensembl	human	known	69_37n	missense	207	33.65	106	SNP	0.905	A
ARHGEF33	100271715	genome.wustl.edu	37	2	39156191	39156191	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:39156191G>T	ENST00000536934.1	+	3	304	c.219G>T	c.(217-219)aaG>aaT	p.K73N	ARHGEF33_ENST00000398800.4_Missense_Mutation_p.K73N|ARHGEF33_ENST00000409978.1_Missense_Mutation_p.K73N			A8MVX0	ARG33_HUMAN	Rho guanine nucleotide exchange factor (GEF) 33	73							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|pancreas(1)|prostate(1)	5						CTGAGATGAAGAATTCATTAA	0.368																																						dbGAP											0													152.0	142.0	145.0					2																	39156191		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46263.1, CCDS46263.2	2p22.1	2012-07-24			ENSG00000214694	ENSG00000214694		"""Rho guanine nucleotide exchange factors"""	37252	protein-coding gene	gene with protein product							Standard	NM_001145451		Approved		uc021vgd.1	A8MVX0	OTTHUMG00000153540	ENST00000536934.1:c.219G>T	2.37:g.39156191G>T	ENSP00000445586:p.Lys73Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KPX2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain	p.K73N	ENST00000536934.1	37	c.219		2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698102	0.88830	.	.	ENSG00000214694	ENST00000409978;ENST00000398800;ENST00000536934	T;T;T	0.53206	0.63;0.63;0.63	6.07	6.07	0.98685	.	.	.	.	.	T	0.56077	0.1961	N	0.19112	0.55	0.42680	D	0.993546	D	0.69078	0.997	D	0.63488	0.915	T	0.59369	-0.7467	9	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	73	A8MVX0	ARG33_HUMAN	N	73	ENSP00000387020:K73N;ENSP00000381780:K73N;ENSP00000445586:K73N	ENSP00000381780:K73N	K	+	3	2	ARHGEF33	39009695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.700000	0.54786	2.885000	0.99019	0.655000	0.94253	AAG	ARHGEF33	-	superfamily_Prefoldin	ENSG00000214694		0.368	ARHGEF33-202	KNOWN	basic	protein_coding	ARHGEF33	HGNC	protein_coding		391	0.00	0	G	NM_001145451		39156191	39156191	+1	no_errors	ENST00000398800	ensembl	human	known	69_37n	missense	180	27.13	67	SNP	1.000	T
ARHGEF40	55701	genome.wustl.edu	37	14	21543143	21543144	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21543143_21543144insA	ENST00000298694.4	+	3	1381_1382	c.1254_1255insA	c.(1255-1257)tcafs	p.S419fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.S419fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	419						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCAATCTGCCCTCACCAAGTGA	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		Exception_encountered	14.37:g.21543143_21543144insA	ENSP00000298694:p.Ser419fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S418fs	ENST00000298694.4	37	c.1254_1255	CCDS32041.1	14																																																																																			ARHGEF40	-	NULL	ENSG00000165801		0.569	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	105	0.00	0	-			21543143	21543144	+1	no_errors	ENST00000298694	ensembl	human	known	69_37n	frame_shift_ins	75	12.79	11	INS	0.001:0.000	A
ARHGEF5	7984	genome.wustl.edu	37	7	144060821	144060821	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:144060821G>T	ENST00000056217.5	+	2	1233	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	353					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAAAATCAGAGGAAGTAACTG	0.527																																						dbGAP											0													37.0	33.0	34.0					7																	144060821		1427	2932	4359	-	-	-	SO:0001583	missense	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1059G>T	7.37:g.144060821G>T	ENSP00000056217:p.Glu353Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E353D	ENST00000056217.5	37	c.1059	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271820	0.40194	.	.	ENSG00000050327	ENST00000056217	T	0.74526	-0.85	3.7	3.7	0.42460	.	.	.	.	.	T	0.65228	0.2671	L	0.46157	1.445	0.26871	N	0.967754	P	0.37781	0.608	B	0.32289	0.143	T	0.57888	-0.7733	8	.	.	.	-1.0227	12.9776	0.58546	0.0:0.0:1.0:0.0	.	353	Q12774	ARHG5_HUMAN	D	353	ENSP00000056217:E353D	.	E	+	3	2	ARHGEF5	143691754	0.456000	0.25744	0.004000	0.12327	0.275000	0.26752	1.375000	0.34295	1.896000	0.54893	0.555000	0.69702	GAG	ARHGEF5	-	NULL	ENSG00000050327		0.527	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	518	0.00	0	G	NM_005435		144060821	144060821	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	missense	257	23.96	81	SNP	0.017	T
ARHGEF6	9459	genome.wustl.edu	37	X	135761740	135761740	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135761740C>T	ENST00000250617.6	-	16	2989	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R441Q|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R468Q|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R441Q	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	595					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGGTGCAGGTCGTAGACAACT	0.433																																						dbGAP											0													143.0	140.0	141.0					X																	135761740		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1784G>A	X.37:g.135761740C>T	ENSP00000250617:p.Arg595Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.R595Q	ENST00000250617.6	37	c.1784	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275090	0.80580	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.62941	0.05;0.13;0.13;-0.01	5.56	4.7	0.59300	.	0.112392	0.64402	D	0.000017	T	0.78672	0.4320	M	0.79475	2.455	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80973	-0.1143	10	0.72032	D	0.01	.	13.4948	0.61419	0.0:0.923:0.0:0.077	.	468;595	B7Z3C7;Q15052	.;ARHG6_HUMAN	Q	595;441;441;441;468	ENSP00000250617:R595Q;ENSP00000359654:R441Q;ENSP00000359656:R441Q;ENSP00000439483:R468Q	ENSP00000250617:R595Q	R	-	2	0	ARHGEF6	135589406	1.000000	0.71417	0.944000	0.38274	0.996000	0.88848	7.123000	0.77176	1.109000	0.41680	0.544000	0.68410	CGA	ARHGEF6	-	NULL	ENSG00000129675		0.433	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	438	0.23	1	C	NM_004840		135761740	135761740	-1	no_errors	ENST00000250617	ensembl	human	known	69_37n	missense	283	24.13	90	SNP	0.998	T
ARHGEF9	23229	genome.wustl.edu	37	X	62857911	62857911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:62857911delT	ENST00000253401.6	-	10	2348	c.1548delA	c.(1546-1548)aaafs	p.K516fs	ARHGEF9_ENST00000374872.1_Frame_Shift_Del_p.K495fs|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Frame_Shift_Del_p.K463fs|ARHGEF9_ENST00000374870.4_Frame_Shift_Del_p.K414fs|ARHGEF9_ENST00000433323.2_Frame_Shift_Del_p.K243fs|ARHGEF9_ENST00000374878.1_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	516					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GTAGGTATCATTTTTTGAAGG	0.408																																						dbGAP											0													52.0	47.0	49.0					X																	62857911		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1548delA	X.37:g.62857911delT	ENSP00000253401:p.Lys516fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Frame_Shift_Del	DEL	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K516fs	ENST00000253401.6	37	c.1548	CCDS35315.1	X																																																																																			ARHGEF9	-	NULL	ENSG00000131089		0.408	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	334	0.00	0	T			62857911	62857911	-1	no_errors	ENST00000253401	ensembl	human	known	69_37n	frame_shift_del	292	11.45	38	DEL	1.000	-
ARHGEF6	9459	genome.wustl.edu	37	X	135767928	135767928	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135767928C>T	ENST00000250617.6	-	12	2505	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E280K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E307K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E280K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	434					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TGAATAGGTTCGGACAGTATC	0.393																																						dbGAP											0													160.0	128.0	139.0					X																	135767928		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1300G>A	X.37:g.135767928C>T	ENSP00000250617:p.Glu434Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.E434K	ENST00000250617.6	37	c.1300	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	c	17.11	3.306391	0.60305	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.36	5.36	0.76844	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.67397	2.05	0.80722	D	1	B;P	0.40144	0.411;0.704	B;B	0.43082	0.148;0.407	T	0.40459	-0.9562	10	0.17832	T	0.49	.	18.1967	0.89825	0.0:1.0:0.0:0.0	.	307;434	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	434;280;280;280;307	ENSP00000250617:E434K;ENSP00000359654:E280K;ENSP00000359656:E280K;ENSP00000439483:E307K	ENSP00000250617:E434K	E	-	1	0	ARHGEF6	135595594	1.000000	0.71417	0.951000	0.38953	0.044000	0.14063	7.815000	0.86186	2.235000	0.73313	0.519000	0.50382	GAA	ARHGEF6	-	NULL	ENSG00000129675		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	221	0.00	0	C	NM_004840		135767928	135767928	-1	no_errors	ENST00000250617	ensembl	human	known	69_37n	missense	259	15.31	47	SNP	1.000	T
ARID1B	57492	genome.wustl.edu	37	6	157528291	157528291	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:157528291G>T	ENST00000350026.5	+	19	5978	c.5977G>T	c.(5977-5979)Gcc>Tcc	p.A1993S	ARID1B_ENST00000367148.1_Missense_Mutation_p.A2046S|ARID1B_ENST00000275248.4_Missense_Mutation_p.A1988S|ARID1B_ENST00000346085.5_Missense_Mutation_p.A2006S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1993					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGGGGGTGGCCTGCAGCAA	0.557																																						dbGAP											0													107.0	108.0	108.0					6																	157528291		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5977G>T	6.37:g.157528291G>T	ENSP00000055163:p.Ala1993Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A2046S	ENST00000350026.5	37	c.6136	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257318	0.22965	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.28	3.46	0.39613	.	0.377591	0.29932	N	0.010840	T	0.02342	0.0072	N	0.00980	-1.08	0.40360	D	0.979239	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.15870	0.014;0.008;0.008	T	0.43621	-0.9380	10	0.05833	T	0.94	.	6.7713	0.23594	0.071:0.1283:0.6681:0.1326	.	1993;2006;1988	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	S	2006;1993;2046;1988;1515	ENSP00000344546:A2006S;ENSP00000055163:A1993S;ENSP00000356116:A2046S;ENSP00000275248:A1988S;ENSP00000412835:A1515S	ENSP00000275248:A1988S	A	+	1	0	ARID1B	157569983	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.243000	0.51392	1.349000	0.45751	-0.257000	0.10917	GCC	ARID1B	-	pfam_DUF3518	ENSG00000049618		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	278	0.00	0	G	NM_020732		157528291	157528291	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	missense	251	11.58	33	SNP	1.000	T
ARID2	196528	genome.wustl.edu	37	12	46245783	46245783	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:46245783C>A	ENST00000334344.6	+	15	4049	c.3877C>A	c.(3877-3879)Ctt>Att	p.L1293I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.L903I|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.L1144I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1293					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGTGGGAAGTCTTTTAAATGG	0.438			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													51.0	52.0	52.0					12																	46245783		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3877C>A	12.37:g.46245783C>A	ENSP00000335044:p.Leu1293Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1293I	ENST00000334344.6	37	c.3877	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	4.403	0.074383	0.08485	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.48836	0.8	6.07	4.16	0.48862	.	0.116343	0.64402	D	0.000015	T	0.27731	0.0682	N	0.12746	0.255	0.80722	D	1	B;B;B	0.22414	0.069;0.054;0.018	B;B;B	0.23018	0.043;0.026;0.019	T	0.07908	-1.0748	10	0.33940	T	0.23	-9.5734	8.9836	0.35980	0.2539:0.6785:0.0:0.0676	.	1293;903;1293	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	I	1293;410;410;1144;903	ENSP00000335044:L1293I	ENSP00000335044:L1293I	L	+	1	0	ARID2	44532050	1.000000	0.71417	0.995000	0.50966	0.538000	0.34931	3.426000	0.52778	1.579000	0.49836	-0.150000	0.13652	CTT	ARID2	-	NULL	ENSG00000189079		0.438	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	159	0.00	0	C	XM_350875		46245783	46245783	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	1.000	A
ARID4A	5926	genome.wustl.edu	37	14	58814545	58814545	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:58814545C>T	ENST00000355431.3	+	15	1726	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000348476.3_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	451					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAAATATCGATTCAAACA	0.313																																						dbGAP											0													75.0	79.0	78.0					14																	58814545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1353C>T	14.37:g.58814545C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.I451	ENST00000355431.3	37	c.1353	CCDS9732.1	14																																																																																			ARID4A	-	NULL	ENSG00000032219		0.313	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	280	0.00	0	C	NM_023001		58814545	58814545	+1	no_errors	ENST00000355431	ensembl	human	known	69_37n	silent	209	29.39	87	SNP	0.075	T
ARID4B	51742	genome.wustl.edu	37	1	235345863	235345863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:235345863C>T	ENST00000264183.3	-	20	2868	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	ARID4B_ENST00000349213.3_Missense_Mutation_p.E705K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E791K|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	791					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCAGTATCTTCGGATAATACT	0.323																																						dbGAP											0													126.0	113.0	118.0					1																	235345863		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2371G>A	1.37:g.235345863C>T	ENSP00000264183:p.Glu791Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E791K	ENST00000264183.3	37	c.2371	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818880	0.71028	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.24723	1.85;1.84;1.84	6.06	6.06	0.98353	.	0.320369	0.34088	N	0.004275	T	0.29976	0.0750	N	0.14661	0.345	0.49051	D	0.999744	D;P;D;P	0.71674	0.986;0.882;0.998;0.685	P;B;P;B	0.53593	0.63;0.128;0.73;0.06	T	0.03443	-1.1036	10	0.49607	T	0.09	-25.6519	20.6244	0.99512	0.0:1.0:0.0:0.0	.	472;791;705;791	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	K	791;705;791;791	ENSP00000264184:E705K;ENSP00000355562:E791K;ENSP00000264183:E791K	ENSP00000264183:E791K	E	-	1	0	ARID4B	233412486	0.985000	0.35326	0.974000	0.42286	0.860000	0.49131	2.637000	0.46553	2.879000	0.98667	0.650000	0.86243	GAA	ARID4B	-	NULL	ENSG00000054267		0.323	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	288	0.00	0	C	NM_016374		235345863	235345863	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	missense	364	10.34	42	SNP	0.999	T
ARL1	400	genome.wustl.edu	37	12	101789418	101789418	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:101789418T>G	ENST00000261636.8	-	6	720	c.546A>C	c.(544-546)taA>taC	p.*182Y	ARL1_ENST00000539055.1_Nonstop_Mutation_p.*136Y|ARL1_ENST00000551688.1_Nonstop_Mutation_p.*53Y|ARL1_ENST00000536227.1_Nonstop_Mutation_p.*165Y|ARL1_ENST00000551828.1_Nonstop_Mutation_p.*165Y	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	0					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		ATGGACTGAATTACTGTCTGC	0.318																																						dbGAP											0													117.0	106.0	110.0					12																	101789418		1837	4070	5907	-	-	-	SO:0001578	stop_lost	0			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.546A>C	12.37:g.101789418T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWW1|P80417|Q53XB1	Nonstop_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.*182Y	ENST00000261636.8	37	c.546	CCDS44958.1	12	.	.	.	.	.	.	.	.	.	.	T	11.49	1.655767	0.29425	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551688;ENST00000551828	.	.	.	4.35	0.832	0.18867	.	.	.	.	.	.	.	.	.	.	.	0.43444	D	0.995624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9118	0.19033	0.0:0.3353:0.0:0.6647	.	.	.	.	Y	182;136;165;53;165	.	.	X	-	3	2	ARL1	100313549	0.982000	0.34865	0.430000	0.26722	0.826000	0.46750	1.665000	0.37449	0.140000	0.18849	-0.250000	0.11733	TAA	ARL1	-	NULL	ENSG00000120805		0.318	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL1	HGNC	protein_coding	OTTHUMT00000408246.1	370	0.00	0	T	NM_001177		101789418	101789418	-1	no_errors	ENST00000261636	ensembl	human	known	69_37n	nonstop	284	12.62	41	SNP	0.581	G
ARMC1	55156	genome.wustl.edu	37	8	66534538	66534538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:66534538C>A	ENST00000276569.3	-	3	479	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	ARMC1_ENST00000523384.1_Intron|ARMC1_ENST00000458464.2_Missense_Mutation_p.R40I	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	79					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ATACCCAGTTCTCCTTTCATC	0.343																																						dbGAP											0													182.0	175.0	178.0					8																	66534538		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.235G>T	8.37:g.66534538C>A	ENSP00000276569:p.Glu79*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2W7|Q9H018|Q9H820	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_HeavyMe-assoc_HMA,pirsf_UCP013899_metal-bd	p.E79*	ENST00000276569.3	37	c.235	CCDS6181.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.609987|6.609987	0.97705|0.97705	.|.	.|.	ENSG00000104442|ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352|ENST00000458464	.|.	.|.	.|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.67841	.|0.2936	.|.	.|.	.|.	0.54753|0.54753	D|D	0.99998|0.99998	.|B	.|0.32781	.|0.384	.|B	.|0.43018	.|0.405	.|T	.|0.68554	.|-0.5378	.|7	0.72032|0.49607	D|T	0.01|0.09	.|.	18.6342|18.6342	0.91371|0.91371	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|40	.|B4E2W7	.|.	X|I	79|40	.|.	ENSP00000276569:E79X|ENSP00000388572:R40I	E|R	-|-	1|2	0|0	ARMC1|ARMC1	66697092|66697092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.416000|7.416000	0.80143|0.80143	2.476000|2.476000	0.83614|0.83614	0.467000|0.467000	0.42956|0.42956	GAA|AGA	ARMC1	-	pirsf_UCP013899_metal-bd	ENSG00000104442		0.343	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC1	HGNC	protein_coding	OTTHUMT00000378480.1	260	0.00	0	C	NM_018120		66534538	66534538	-1	no_errors	ENST00000276569	ensembl	human	known	69_37n	nonsense	172	28.33	68	SNP	1.000	A
ARMC3	219681	genome.wustl.edu	37	10	23297757	23297757	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:23297757C>A	ENST00000298032.5	+	16	2026	c.1942C>A	c.(1942-1944)Cat>Aat	p.H648N	ARMC3_ENST00000409983.3_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.H648N|ARMC3_ENST00000376528.4_Missense_Mutation_p.H385N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	648						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAATAGTTATCATTTTAGTGC	0.353																																						dbGAP											0													52.0	51.0	51.0					10																	23297757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1942C>A	10.37:g.23297757C>A	ENSP00000298032:p.His648Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H648N	ENST00000298032.5	37	c.1942	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	c	6.688	0.495575	0.12762	.	.	ENSG00000165309	ENST00000298032;ENST00000409049;ENST00000376528	T;T;T	0.36340	1.27;1.26;2.5	5.51	4.61	0.57282	.	1.448970	0.04116	N	0.315501	T	0.28366	0.0701	N	0.24115	0.695	0.21220	N	0.999751	B	0.06786	0.001	B	0.01281	0.0	T	0.16748	-1.0392	10	0.36615	T	0.2	-1.3489	7.3698	0.26794	0.2075:0.7084:0.0:0.0841	.	648	Q5W041	ARMC3_HUMAN	N	648;648;385	ENSP00000298032:H648N;ENSP00000387288:H648N;ENSP00000365711:H385N	ENSP00000298032:H648N	H	+	1	0	ARMC3	23337763	0.091000	0.21658	0.800000	0.32199	0.524000	0.34500	0.852000	0.27764	1.320000	0.45209	0.447000	0.29281	CAT	ARMC3	-	NULL	ENSG00000165309		0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	249	0.00	0	C	NM_173081		23297757	23297757	+1	no_errors	ENST00000298032	ensembl	human	known	69_37n	missense	157	14.13	26	SNP	0.805	A
ARMC3	219681	genome.wustl.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:23326238C>T	ENST00000298032.5	+	19	2533	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_ENST00000409983.3_Missense_Mutation_p.R810C|ARMC3_ENST00000376528.4_Missense_Mutation_p.R554C	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	817						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542																																						dbGAP											0													112.0	109.0	110.0					10																	23326238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2449C>T	10.37:g.23326238C>T	ENSP00000298032:p.Arg817Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R817C	ENST00000298032.5	37	c.2449	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509953	0.44660	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.63255	-0.03;-0.03;1.21	5.68	4.77	0.60923	.	0.063312	0.64402	D	0.000010	D	0.82848	0.5126	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87089	0.2171	10	0.87932	D	0	-7.066	16.1674	0.81777	0.1341:0.8659:0.0:0.0	.	810;817	Q5W041-4;Q5W041	.;ARMC3_HUMAN	C	817;810;554	ENSP00000298032:R817C;ENSP00000386943:R810C;ENSP00000365711:R554C	ENSP00000298032:R817C	R	+	1	0	ARMC3	23366244	1.000000	0.71417	0.085000	0.20634	0.011000	0.07611	3.600000	0.54052	1.370000	0.46153	0.655000	0.94253	CGC	ARMC3	-	NULL	ENSG00000165309		0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	130	0.00	0	C	NM_173081		23326238	23326238	+1	no_errors	ENST00000298032	ensembl	human	known	69_37n	missense	109	31.87	51	SNP	1.000	T
ARMC4	55130	genome.wustl.edu	37	10	28229609	28229609	+	Silent	SNP	C	C	T	rs189617150	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:28229609C>T	ENST00000305242.5	-	13	1961	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	ARMC4_ENST00000537576.1_Silent_p.T315T|ARMC4_ENST00000545014.1_Silent_p.T148T	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	623					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTCTTTATTCGTATGACTCT	0.532													C|||	5	0.000998403	0.0	0.0058	5008	,	,		12736	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													116.0	106.0	109.0					10																	28229609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1869G>A	10.37:g.28229609C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.T623	ENST00000305242.5	37	c.1869	CCDS7157.1	10																																																																																			ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169126		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	110	0.00	0	C	NM_018076		28229609	28229609	-1	no_errors	ENST00000305242	ensembl	human	known	69_37n	silent	61	10.29	7	SNP	0.000	T
ARMCX1	51309	genome.wustl.edu	37	X	100808691	100808691	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100808691G>T	ENST00000372829.3	+	4	1149	c.778G>T	c.(778-780)Gac>Tac	p.D260Y		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	260						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AAAAACAAAAGACCCCATAAT	0.393																																						dbGAP											0													106.0	97.0	100.0					X																	100808691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.778G>T	X.37:g.100808691G>T	ENSP00000361917:p.Asp260Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D260Y	ENST00000372829.3	37	c.778	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	g	13.13	2.145282	0.37825	.	.	ENSG00000126947	ENST00000372829	T	0.39056	1.1	3.71	3.71	0.42584	Armadillo-like helical (1);Armadillo-type fold (1);	0.600501	0.17355	N	0.177242	T	0.47060	0.1425	N	0.22421	0.69	0.33634	D	0.606379	D	0.76494	0.999	D	0.78314	0.991	T	0.57745	-0.7758	10	0.56958	D	0.05	-15.1015	9.9619	0.41701	0.0:0.0:1.0:0.0	.	260	Q9P291	ARMX1_HUMAN	Y	260	ENSP00000361917:D260Y	ENSP00000361917:D260Y	D	+	1	0	ARMCX1	100695347	0.980000	0.34600	0.987000	0.45799	0.900000	0.52787	2.811000	0.47986	2.102000	0.63906	0.544000	0.68410	GAC	ARMCX1	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000126947		0.393	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	192	0.00	0	G	NM_016608		100808691	100808691	+1	no_errors	ENST00000372829	ensembl	human	known	69_37n	missense	177	23.04	53	SNP	0.987	T
ARMCX1	51309	genome.wustl.edu	37	X	100808833	100808833	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100808833C>T	ENST00000372829.3	+	4	1291	c.920C>T	c.(919-921)gCt>gTt	p.A307V		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	307						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GTGCAGATGGCTGGGCTAAGA	0.423																																						dbGAP											0													147.0	100.0	116.0					X																	100808833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.920C>T	X.37:g.100808833C>T	ENSP00000361917:p.Ala307Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A307V	ENST00000372829.3	37	c.920	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	c	14.46	2.542314	0.45280	.	.	ENSG00000126947	ENST00000372829;ENST00000538894	T	0.36520	1.25	3.21	3.21	0.36854	Armadillo-like helical (1);Armadillo-type fold (1);	0.120124	0.56097	D	0.000038	T	0.38241	0.1033	L	0.29908	0.895	0.45205	D	0.998215	P	0.44946	0.846	P	0.58620	0.842	T	0.05566	-1.0877	10	0.24483	T	0.36	-8.6086	9.0243	0.36220	0.0:1.0:0.0:0.0	.	307	Q9P291	ARMX1_HUMAN	V	307;12	ENSP00000361917:A307V	ENSP00000361917:A307V	A	+	2	0	ARMCX1	100695489	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	3.299000	0.51826	1.864000	0.54056	0.544000	0.68410	GCT	ARMCX1	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000126947		0.423	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	303	0.00	0	C	NM_016608		100808833	100808833	+1	no_errors	ENST00000372829	ensembl	human	known	69_37n	missense	271	15.05	48	SNP	0.996	T
ARMCX3	51566	genome.wustl.edu	37	X	100880573	100880573	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100880573G>T	ENST00000341189.4	+	5	1470	c.604G>T	c.(604-606)Gta>Tta	p.V202L	ARMCX3_ENST00000471229.2_Missense_Mutation_p.V202L|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V202L|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	202					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CAGGCTTAAAGTATACATGAA	0.398																																						dbGAP											0													96.0	90.0	92.0					X																	100880573		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.604G>T	X.37:g.100880573G>T	ENSP00000340672:p.Val202Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.V202L	ENST00000341189.4	37	c.604	CCDS14489.1	X	.	.	.	.	.	.	.	.	.	.	G	8.752	0.921622	0.17982	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.50548	0.74;0.74	4.29	1.84	0.25277	Armadillo-like helical (1);Armadillo-type fold (1);	0.324721	0.37136	N	0.002230	T	0.32526	0.0832	L	0.38175	1.15	0.29317	N	0.867608	B	0.24483	0.104	B	0.29353	0.101	T	0.17531	-1.0366	9	.	.	.	-6.1615	5.2195	0.15362	0.7463:0.0:0.2537:0.0	.	202	Q9UH62	ARMX3_HUMAN	L	202	ENSP00000340672:V202L;ENSP00000439032:V202L	.	V	+	1	0	ARMCX3	100767229	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	0.789000	0.26886	0.269000	0.21961	-0.395000	0.06472	GTA	ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000102401		0.398	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	391	0.00	0	G	NM_016607		100880573	100880573	+1	no_errors	ENST00000341189	ensembl	human	known	69_37n	missense	255	21.30	69	SNP	1.000	T
ARMCX6	54470	genome.wustl.edu	37	X	100871324	100871324	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100871324C>T	ENST00000361910.4	-	3	631	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	ARMCX6_ENST00000538627.1_Missense_Mutation_p.R96Q|ARMCX6_ENST00000539247.1_Missense_Mutation_p.R96Q|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	96						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGGGTGTGCTCGGTTGGCCTT	0.537																																						dbGAP											0													99.0	96.0	97.0					X																	100871324		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007677	CCDS14488.1	Xq21.33-q22.3	2014-03-21			ENSG00000198960	ENSG00000198960		"""Armadillo repeat containing"""	26094	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_001184768		Approved	FLJ20811, GASP10	uc004ehy.3	Q7L4S7	OTTHUMG00000022034	ENST00000361910.4:c.287G>A	X.37:g.100871324C>T	ENSP00000354708:p.Arg96Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWJ3	Missense_Mutation	SNP	pfam_ARM-rpt_dom	p.R96Q	ENST00000361910.4	37	c.287	CCDS14488.1	X	.	.	.	.	.	.	.	.	.	.	.	15.47	2.843806	0.51164	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.49720	0.77;0.77;0.77	3.56	3.56	0.40772	.	0.000000	0.38778	N	0.001564	T	0.53610	0.1807	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.34950	-0.9808	10	0.38643	T	0.18	-6.9474	9.7811	0.40649	0.0:1.0:0.0:0.0	.	96	Q7L4S7	ARMX6_HUMAN	Q	96	ENSP00000354708:R96Q;ENSP00000444537:R96Q;ENSP00000440648:R96Q	ENSP00000354708:R96Q	R	-	2	0	ARMCX6	100757980	0.890000	0.30428	0.125000	0.21846	0.996000	0.88848	1.698000	0.37794	2.056000	0.61249	0.472000	0.43445	CGA	ARMCX6	-	NULL	ENSG00000198960		0.537	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX6	HGNC	protein_coding	OTTHUMT00000057562.1	117	0.85	1	C	NM_019007		100871324	100871324	-1	no_errors	ENST00000361910	ensembl	human	known	69_37n	missense	70	25.26	24	SNP	0.104	T
ARMCX5	64860	genome.wustl.edu	37	X	101858439	101858439	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101858439C>T	ENST00000604957.1	+	1	3992	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	ARMCX5_ENST00000536530.1_Missense_Mutation_p.S457L|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S457L|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S457L|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S457L|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S457L	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	457										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AAAGTGTTTTCGTGTTTGTCT	0.353																																						dbGAP											0													57.0	53.0	54.0					X																	101858439		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1370C>T	X.37:g.101858439C>T	ENSP00000474720:p.Ser457Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S457L	ENST00000604957.1	37	c.1370	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.969226	0.00457	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.97	-2.29	0.06805	Armadillo-like helical (1);Armadillo-type fold (1);	0.766119	0.10671	N	0.647569	T	0.03305	0.0096	N	0.00121	-2.07	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38023	-0.9680	10	0.02654	T	1	1.8982	3.7208	0.08456	0.1969:0.4407:0.0:0.3624	.	457	Q6P1M9	ARMX5_HUMAN	L	457	ENSP00000246174:S457L;ENSP00000439001:S457L;ENSP00000446385:S457L;ENSP00000445851:S457L;ENSP00000361827:S457L	ENSP00000246174:S457L	S	+	2	0	ARMCX5	101745095	0.000000	0.05858	0.000000	0.03702	0.697000	0.40408	-0.687000	0.05156	-0.446000	0.07149	-0.513000	0.04457	TCG	ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.353	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	220	0.00	0	C	NM_022838		101858439	101858439	+1	no_errors	ENST00000246174	ensembl	human	known	69_37n	missense	105	24.46	34	SNP	0.000	T
ARNT2	9915	genome.wustl.edu	37	15	80762577	80762577	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:80762577C>T	ENST00000303329.4	+	4	378	c.213C>T	c.(211-213)atC>atT	p.I71I	ARNT2_ENST00000527771.1_Silent_p.I60I|ARNT2_ENST00000533983.1_Silent_p.I60I	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	71	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATAGTGAAATCGAAAGGCGCA	0.483																																						dbGAP											0													65.0	58.0	60.0					15																	80762577		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.213C>T	15.37:g.80762577C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIS7|O15024|Q8IYC2	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat,tigrfam_PAS	p.I71	ENST00000303329.4	37	c.213	CCDS32307.1	15																																																																																			ARNT2	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000172379		0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	117	0.00	0	C			80762577	80762577	+1	no_errors	ENST00000303329	ensembl	human	known	69_37n	silent	83	20.95	22	SNP	0.330	T
ARNTL	406	genome.wustl.edu	37	11	13393860	13393860	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:13393860T>C	ENST00000403290.1	+	13	1326	c.971T>C	c.(970-972)gTa>gCa	p.V324A	ARNTL_ENST00000403510.3_Missense_Mutation_p.V280A|ARNTL_ENST00000389708.3_Missense_Mutation_p.V324A|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.V323A|ARNTL_ENST00000401424.1_Missense_Mutation_p.V281A|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000403482.3_Missense_Mutation_p.V322A|ARNTL_ENST00000389707.4_Missense_Mutation_p.V323A			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	324					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CATTCTCATGTAGTTCCACAA	0.483																																						dbGAP											0													123.0	105.0	111.0					11																	13393860		2200	4294	6494	-	-	-	SO:0001583	missense	0			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.971T>C	11.37:g.13393860T>C	ENSP00000384517:p.Val324Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.V324A	ENST00000403290.1	37	c.971		11	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880543	0.51801	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000389708;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T	0.08282	3.13;3.13;3.13;3.13;3.11;3.13;3.12	5.43	5.43	0.79202	.	0.382752	0.25593	N	0.029618	T	0.06781	0.0173	N	0.14661	0.345	0.39717	D	0.971412	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.0;0.001;0.0	T	0.27297	-1.0078	10	0.54805	T	0.06	.	15.1692	0.72858	0.0:0.0:0.0:1.0	.	322;281;324;323;280	O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;BMAL1_HUMAN;.;.	A	323;323;281;324;324;280;280;322	ENSP00000379718:V323A;ENSP00000374357:V323A;ENSP00000385915:V281A;ENSP00000384517:V324A;ENSP00000374358:V324A;ENSP00000385581:V280A;ENSP00000385897:V322A	ENSP00000340289:V280A	V	+	2	0	ARNTL	13350436	1.000000	0.71417	0.786000	0.31890	0.895000	0.52256	4.808000	0.62583	2.062000	0.61559	0.528000	0.53228	GTA	ARNTL	-	prints_Nuc_translocat	ENSG00000133794		0.483	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	270	0.00	0	T	NM_001178		13393860	13393860	+1	no_errors	ENST00000403290	ensembl	human	known	69_37n	missense	210	24.37	68	SNP	0.979	C
ARPC2	10109	genome.wustl.edu	37	2	219114119	219114119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:219114119C>T	ENST00000295685.10	+	8	970	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Nonsense_Mutation_p.R237*	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	237					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCAGTGCTCGAGACAACAC	0.547																																						dbGAP											0													184.0	128.0	147.0					2																	219114119		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.709C>T	2.37:g.219114119C>T	ENSP00000295685:p.Arg237*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92801|Q9P1D4	Nonsense_Mutation	SNP	pfam_P34-arc	p.R237*	ENST00000295685.10	37	c.709	CCDS2410.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.024669	0.98010	.	.	ENSG00000163466	ENST00000315717;ENST00000295685;ENST00000456575	.	.	.	6.17	3.15	0.36227	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0202	0.30404	0.5157:0.4041:0.0:0.0802	.	.	.	.	X	237;237;52	.	ENSP00000295685:R237X	R	+	1	2	ARPC2	218822364	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	4.521000	0.60532	0.925000	0.37094	-0.169000	0.13324	CGA	ARPC2	-	pfam_P34-arc	ENSG00000163466		0.547	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	190	0.00	0	C	NM_005731		219114119	219114119	+1	no_errors	ENST00000295685	ensembl	human	known	69_37n	nonsense	140	14.02	23	SNP	1.000	T
ARPC2	10109	genome.wustl.edu	37	2	219118827	219118827	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:219118827G>T	ENST00000295685.10	+	0	1353				RP11-378A13.1_ENST00000562328.1_RNA|ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TAGTTCCCAAGAATTAAAAAA	0.378																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.*189G>T	2.37:g.219118827G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92801|Q9P1D4	RNA	SNP	-	NULL	ENST00000295685.10	37	NULL	CCDS2410.1	2																																																																																			ARPC2	-	-	ENSG00000163466		0.378	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	15	0.00	0	G	NM_005731		219118827	219118827	+1	no_errors	ENST00000477992	ensembl	human	known	69_37n	rna	15	18.18	4	SNP	1.000	T
ARR3	407	genome.wustl.edu	37	X	69496527	69496527	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:69496527G>A	ENST00000307959.8	+	8	465	c.414G>A	c.(412-414)ggG>ggA	p.G138G	ARR3_ENST00000374495.3_Silent_p.G138G	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	138					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGCCCTGTGGGATTGACTTTG	0.493																																						dbGAP											0													115.0	102.0	107.0					X																	69496527		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.414G>A	X.37:g.69496527G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.G138	ENST00000307959.8	37	c.414	CCDS14399.1	X																																																																																			ARR3	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000120500		0.493	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2	383	0.00	0	G	NM_004312		69496527	69496527	+1	no_errors	ENST00000307959	ensembl	human	known	69_37n	silent	341	12.34	48	SNP	0.923	A
ARSJ	79642	genome.wustl.edu	37	4	114823848	114823848	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:114823848G>A	ENST00000315366.7	-	2	2248	c.1382C>T	c.(1381-1383)cCt>cTt	p.P461L	ARSJ_ENST00000541197.1_Missense_Mutation_p.P461L	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	461					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GCTGTAGCCAGGATTTCCTGT	0.532																																						dbGAP											0													94.0	95.0	95.0					4																	114823848		1947	4144	6091	-	-	-	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1382C>T	4.37:g.114823848G>A	ENSP00000320219:p.Pro461Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.P461L	ENST00000315366.7	37	c.1382	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730749	0.69074	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.98135	-4.74;-4.74	5.54	5.54	0.83059	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.819802	0.10436	N	0.674936	D	0.98861	0.9615	M	0.83118	2.625	0.80722	D	1	D;D	0.62365	0.991;0.974	D;D	0.67103	0.942;0.949	D	0.98346	1.0541	10	0.62326	D	0.03	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	461;461	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	L	461;461;30	ENSP00000320219:P461L;ENSP00000438836:P461L	ENSP00000320219:P461L	P	-	2	0	ARSJ	115043297	1.000000	0.71417	0.773000	0.31616	0.562000	0.35680	7.355000	0.79434	2.600000	0.87896	0.655000	0.94253	CCT	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.532	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	193	0.00	0	G	NM_024590		114823848	114823848	-1	no_errors	ENST00000315366	ensembl	human	known	69_37n	missense	78	26.17	28	SNP	1.000	A
ART3	419	genome.wustl.edu	37	4	77003402	77003402	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:77003402C>T	ENST00000355810.4	+	3	614	c.495C>T	c.(493-495)agC>agT	p.S165S	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Silent_p.S165S|ART3_ENST00000341029.5_Silent_p.S165S	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	165					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATAGAACAAGCCAGGGCACTT	0.468																																						dbGAP											0													47.0	45.0	46.0					4																	77003402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.495C>T	4.37:g.77003402C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Silent	SNP	pfam_ART,prints_ART	p.S165	ENST00000355810.4	37	c.495	CCDS47079.1	4																																																																																			ART3	-	pfam_ART	ENSG00000156219		0.468	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ART3	HGNC	protein_coding	OTTHUMT00000252416.2	125	0.00	0	C	NM_001179		77003402	77003402	+1	no_errors	ENST00000355810	ensembl	human	known	69_37n	silent	82	25.45	28	SNP	0.038	T
ARSJ	79642	genome.wustl.edu	37	4	114824661	114824661	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:114824661C>A	ENST00000315366.7	-	2	1435	c.569G>T	c.(568-570)aGa>aTa	p.R190I	ARSJ_ENST00000541197.1_Missense_Mutation_p.R190I	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	190					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		AAATCCTCTTCTGGTGGGCAT	0.433																																						dbGAP											0													183.0	169.0	173.0					4																	114824661		1920	4135	6055	-	-	-	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.569G>T	4.37:g.114824661C>A	ENSP00000320219:p.Arg190Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R190I	ENST00000315366.7	37	c.569	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507700	0.44558	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.96619	-4.07;-4.07	5.51	0.314	0.15847	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.580895	0.17561	N	0.169803	D	0.96611	0.8894	M	0.79614	2.46	0.31398	N	0.677066	P;P	0.41978	0.767;0.767	P;P	0.54026	0.74;0.637	D	0.94267	0.7507	10	0.41790	T	0.15	.	9.337	0.38056	0.0:0.2725:0.0:0.7275	.	190;190	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	I	190	ENSP00000320219:R190I;ENSP00000438836:R190I	ENSP00000320219:R190I	R	-	2	0	ARSJ	115044110	0.419000	0.25449	0.960000	0.40013	0.976000	0.68499	0.804000	0.27098	-0.139000	0.11414	-0.238000	0.12139	AGA	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.433	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	246	0.00	0	C	NM_024590		114824661	114824661	-1	no_errors	ENST00000315366	ensembl	human	known	69_37n	missense	146	18.89	34	SNP	0.942	A
ASAP2	8853	genome.wustl.edu	37	2	9484865	9484865	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:9484865G>A	ENST00000281419.3	+	11	1299	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	ASAP2_ENST00000315273.4_Missense_Mutation_p.R320Q	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	320	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACAAGGATCCGAAAAGTGTGG	0.398																																						dbGAP											0													128.0	118.0	121.0					2																	9484865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.959G>A	2.37:g.9484865G>A	ENSP00000281419:p.Arg320Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y8	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.R320Q	ENST00000281419.3	37	c.959	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767176	0.90020	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.75367	-0.93;-0.93	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.050376	0.85682	D	0.000000	T	0.81740	0.4886	M	0.91459	3.21	0.80722	D	1	P;B	0.40360	0.714;0.425	B;B	0.38194	0.159;0.267	D	0.84845	0.0810	10	0.52906	T	0.07	.	19.8942	0.96945	0.0:0.0:1.0:0.0	.	320;320	O43150-2;O43150	.;ASAP2_HUMAN	Q	320	ENSP00000281419:R320Q;ENSP00000316404:R320Q	ENSP00000281419:R320Q	R	+	2	0	ASAP2	9402316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.458000	0.97634	2.692000	0.91855	0.655000	0.94253	CGA	ASAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000151693		0.398	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	375	0.00	0	G	NM_003887		9484865	9484865	+1	no_errors	ENST00000281419	ensembl	human	known	69_37n	missense	253	30.30	110	SNP	1.000	A
ASAP2	8853	genome.wustl.edu	37	2	9496399	9496399	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:9496399G>T	ENST00000281419.3	+	14	1592	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	ASAP2_ENST00000315273.4_Nonsense_Mutation_p.E418*	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	418					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)	p.E418*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CATCGTCCAAGAACTGACAAA	0.483																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											87.0	83.0	84.0					2																	9496399		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1252G>T	2.37:g.9496399G>T	ENSP00000281419:p.Glu418*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y8	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.E418*	ENST00000281419.3	37	c.1252	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.345437	0.98769	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.0263	0.92934	0.0:0.0:1.0:0.0	.	.	.	.	X	418	.	ENSP00000281419:E418X	E	+	1	0	ASAP2	9413850	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	9.199000	0.95003	2.723000	0.93209	0.655000	0.94253	GAA	ASAP2	-	NULL	ENSG00000151693		0.483	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	132	0.00	0	G	NM_003887		9496399	9496399	+1	no_errors	ENST00000281419	ensembl	human	known	69_37n	nonsense	123	13.38	19	SNP	1.000	T
ASB7	140460	genome.wustl.edu	37	15	101188558	101188558	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:101188558G>A	ENST00000332783.7	+	6	1633	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	ASB7_ENST00000558747.1_Missense_Mutation_p.R81Q	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	283	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			GACCTGTGCCGAATTAAAATT	0.353																																						dbGAP											0													83.0	80.0	81.0					15																	101188558		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.848G>A	15.37:g.101188558G>A	ENSP00000328327:p.Arg283Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.R283Q	ENST00000332783.7	37	c.848	CCDS10387.1	15	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651302	0.88056	.	.	ENSG00000183475	ENST00000332783	D	0.85484	-1.99	5.51	5.51	0.81932	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	M	0.92923	3.36	0.80722	D	1	D	0.63046	0.992	P	0.59424	0.857	D	0.92121	0.5704	10	0.25751	T	0.34	-4.2342	19.451	0.94867	0.0:0.0:1.0:0.0	.	283	Q9H672	ASB7_HUMAN	Q	283	ENSP00000328327:R283Q	ENSP00000328327:R283Q	R	+	2	0	ASB7	99006081	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.593000	0.87608	0.655000	0.94253	CGA	ASB7	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000183475		0.353	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB7	HGNC	protein_coding	OTTHUMT00000313617.1	224	0.00	0	G	NM_024708		101188558	101188558	+1	no_errors	ENST00000332783	ensembl	human	known	69_37n	missense	145	11.38	19	SNP	1.000	A
ASB9	140462	genome.wustl.edu	37	X	15270445	15270445	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:15270445G>T	ENST00000380488.4	-	4	637	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	ASB9_ENST00000473862.1_Intron|ASB9_ENST00000380483.3_Missense_Mutation_p.L122M|ASB9_ENST00000546332.1_Missense_Mutation_p.L122M|ASB9_ENST00000380485.3_Missense_Mutation_p.L122M	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	122					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CCGTGCTGCAGAAGCAAATTC	0.493																																						dbGAP											0													64.0	55.0	58.0					X																	15270445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.364C>A	X.37:g.15270445G>T	ENSP00000369855:p.Leu122Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L122M	ENST00000380488.4	37	c.364	CCDS35208.1	X	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489565	0.44249	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.73047	-0.71;-0.64;-0.64;-0.64	5.68	2.55	0.30701	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.79845	0.4516	M	0.67569	2.06	0.41648	D	0.989118	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.79359	-0.1836	10	0.87932	D	0	-15.2357	9.2321	0.37444	0.3229:0.0:0.6771:0.0	.	122;122;122	Q9BVF5;Q96DX5;Q96DX5-2	.;ASB9_HUMAN;.	M	122	ENSP00000369850:L122M;ENSP00000369852:L122M;ENSP00000369855:L122M;ENSP00000438943:L122M	ENSP00000369850:L122M	L	-	1	2	ASB9	15180366	0.998000	0.40836	0.537000	0.28052	0.490000	0.33462	1.349000	0.33998	0.560000	0.29169	0.502000	0.49764	CTG	ASB9	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000102048		0.493	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB9	HGNC	protein_coding	OTTHUMT00000055844.1	118	0.84	1	G			15270445	15270445	-1	no_errors	ENST00000380488	ensembl	human	known	69_37n	missense	89	11.00	11	SNP	0.375	T
ASH1L	55870	genome.wustl.edu	37	1	155448823	155448823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155448823G>A	ENST00000368346.3	-	3	4477	c.3838C>T	c.(3838-3840)Cga>Tga	p.R1280*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R1280*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1280					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTCTATTTCGAAGCTGGGGA	0.403																																						dbGAP											0													118.0	128.0	125.0					1																	155448823		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3838C>T	1.37:g.155448823G>A	ENSP00000357330:p.Arg1280*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R1280*	ENST00000368346.3	37	c.3838		1	.	.	.	.	.	.	.	.	.	.	G	46	12.756154	0.99693	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.1	3.16	0.36331	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6171	0.62115	0.0:0.0:0.7173:0.2826	.	.	.	.	X	1280	.	ENSP00000357330:R1280X	R	-	1	2	ASH1L	153715447	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	5.190000	0.65104	0.681000	0.31386	0.591000	0.81541	CGA	ASH1L	-	NULL	ENSG00000116539		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	162	0.00	0	G	NM_018489		155448823	155448823	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	nonsense	122	28.65	49	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155448984	155448984	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155448984G>T	ENST00000368346.3	-	3	4316	c.3677C>A	c.(3676-3678)tCt>tAt	p.S1226Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1226Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1226					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGCTCAAAAGAATGCCTCCT	0.403																																						dbGAP											0													162.0	169.0	167.0					1																	155448984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3677C>A	1.37:g.155448984G>T	ENSP00000357330:p.Ser1226Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.S1226Y	ENST00000368346.3	37	c.3677		1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045343	0.55110	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91521	-2.86;-2.86	5.16	5.16	0.70880	.	0.070724	0.56097	D	0.000023	D	0.89993	0.6876	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.989;0.994	P;P	0.62740	0.809;0.906	D	0.91731	0.5396	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	1226;1226	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	1226	ENSP00000357330:S1226Y;ENSP00000376204:S1226Y	ENSP00000357330:S1226Y	S	-	2	0	ASH1L	153715608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.823000	0.62694	2.700000	0.92200	0.585000	0.79938	TCT	ASH1L	-	NULL	ENSG00000116539		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	412	0.00	0	G	NM_018489		155448984	155448984	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	289	27.02	107	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155450884	155450884	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155450884C>T	ENST00000368346.3	-	3	2416	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E593K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	593					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E593K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAAATTTCTTCGATTAGTTCT	0.373																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											59.0	62.0	61.0					1																	155450884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1777G>A	1.37:g.155450884C>T	ENSP00000357330:p.Glu593Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.E593K	ENST00000368346.3	37	c.1777		1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988084	0.74589	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89939	-2.59;-2.59	5.23	4.31	0.51392	.	0.159234	0.44902	D	0.000416	T	0.70868	0.3273	N	0.14661	0.345	0.80722	D	1	P;P	0.50066	0.886;0.931	B;B	0.38755	0.146;0.281	T	0.75838	-0.3176	10	0.39692	T	0.17	.	15.8692	0.79098	0.0:0.8639:0.1361:0.0	.	593;593	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	593	ENSP00000357330:E593K;ENSP00000376204:E593K	ENSP00000357330:E593K	E	-	1	0	ASH1L	153717508	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.551000	0.45820	1.557000	0.49525	0.655000	0.94253	GAA	ASH1L	-	NULL	ENSG00000116539		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	110	0.00	0	C	NM_018489		155450884	155450884	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	1.000	T
ASIC1	41	genome.wustl.edu	37	12	50474498	50474498	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50474498C>T	ENST00000447966.2	+	9	1526				ASIC1_ENST00000228468.4_Missense_Mutation_p.P475S|ASIC1_ENST00000552438.1_Intron	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CTTCCCCAAACCCTGTTGTCT	0.562																																						dbGAP											0													38.0	33.0	35.0					12																	50474498		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1297+126C>T	12.37:g.50474498C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.P475S	ENST00000447966.2	37	c.1423	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689915	0.68271	.	.	ENSG00000110881	ENST00000228468	T	0.58358	0.34	4.88	0.697	0.18081	.	4.472910	0.00481	N	0.000140	T	0.35008	0.0917	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10613	-1.0622	9	0.25106	T	0.35	-0.3801	3.7992	0.08751	0.0:0.4925:0.1831:0.3244	.	475	P78348-1	.	S	475	ENSP00000228468:P475S	ENSP00000228468:P475S	P	+	1	0	ACCN2	48760765	0.000000	0.05858	0.000000	0.03702	0.655000	0.38815	-0.001000	0.12947	0.158000	0.19367	0.555000	0.69702	CCC	ASIC1	-	pfam_Na+channel_ASC	ENSG00000110881		0.562	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	135	0.00	0	C	NM_020039		50474498	50474498	+1	no_errors	ENST00000228468	ensembl	human	known	69_37n	missense	92	25.20	31	SNP	0.000	T
ASNA1	439	genome.wustl.edu	37	19	12856239	12856239	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12856239G>A	ENST00000591090.1	+	4	460	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ASNA1_ENST00000357332.3_Missense_Mutation_p.E120K					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CGAGTTCTTCGAGGAGGACAA	0.597																																						dbGAP											0													68.0	59.0	62.0					19																	12856239		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.358G>A	19.37:g.12856239G>A	ENSP00000466379:p.Glu120Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3	p.E120K	ENST00000591090.1	37	c.358	CCDS32920.1	19	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932876	0.73442	.	.	ENSG00000198356	ENST00000357332	T	0.41065	1.01	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.45228	1.405	0.80722	D	1	P;B	0.42757	0.789;0.003	B;B	0.40864	0.342;0.005	T	0.15378	-1.0439	10	0.29301	T	0.29	-28.6045	17.3696	0.87372	0.0:0.0:1.0:0.0	.	102;120	E7EVN0;O43681	.;ASNA_HUMAN	K	120	ENSP00000349887:E120K	ENSP00000349887:E120K	E	+	1	0	ASNA1	12717239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.030000	0.93725	2.466000	0.83321	0.655000	0.94253	GAG	ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3	ENSG00000198356		0.597	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1	97	0.00	0	G	NM_004317		12856239	12856239	+1	no_errors	ENST00000357332	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	1.000	A
ASNSD1	54529	genome.wustl.edu	37	2	190532551	190532551	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:190532551G>A	ENST00000260952.4	+	5	1939	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ASNSD1_ENST00000607062.1_Missense_Mutation_p.R28H	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	509	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.R509H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			CATCGTGTCCGCTTTCAGTCG	0.403																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											115.0	118.0	117.0					2																	190532551		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1526G>A	2.37:g.190532551G>A	ENSP00000260952:p.Arg509His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	pfam_Asn_synthase	p.R509H	ENST00000260952.4	37	c.1526	CCDS2300.1	2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415292	0.42817	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.48836	0.8;0.8	5.33	4.45	0.53987	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.231729	0.44688	D	0.000422	T	0.53367	0.1792	M	0.83953	2.67	0.58432	D	0.999998	B	0.19073	0.033	B	0.21708	0.036	T	0.55823	-0.8080	10	0.52906	T	0.07	-0.3156	14.0241	0.64575	0.0729:0.0:0.9271:0.0	.	509	Q9NWL6	ASND1_HUMAN	H	509	ENSP00000260952:R509H;ENSP00000406790:R509H	ENSP00000260952:R509H	R	+	2	0	ASNSD1	190240796	1.000000	0.71417	0.813000	0.32504	0.718000	0.41266	9.476000	0.97823	1.249000	0.43950	0.561000	0.74099	CGC	ASNSD1	-	pfam_Asn_synthase	ENSG00000138381		0.403	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	237	0.00	0	G	NM_019048		190532551	190532551	+1	no_errors	ENST00000260952	ensembl	human	known	69_37n	missense	129	11.03	16	SNP	0.998	A
ASNSD1	54529	genome.wustl.edu	37	2	190535346	190535346	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:190535346G>T	ENST00000260952.4	+	6	2239	c.1826G>T	c.(1825-1827)aGa>aTa	p.R609I	ASNSD1_ENST00000607062.1_Missense_Mutation_p.R128I	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	609					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTGGATCAAGAATTGCAAAA	0.398																																						dbGAP											0													67.0	68.0	68.0					2																	190535346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1826G>T	2.37:g.190535346G>T	ENSP00000260952:p.Arg609Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	pfam_Asn_synthase	p.R609I	ENST00000260952.4	37	c.1826	CCDS2300.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352265	0.82132	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.43294	0.95;0.95	5.66	3.54	0.40534	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.044646	0.85682	D	0.000000	T	0.60444	0.2269	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.66551	-0.5895	10	0.87932	D	0	-15.6572	13.5466	0.61707	0.1463:0.0:0.8537:0.0	.	609	Q9NWL6	ASND1_HUMAN	I	609	ENSP00000260952:R609I;ENSP00000406790:R609I	ENSP00000260952:R609I	R	+	2	0	ASNSD1	190243591	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.363000	0.73082	1.402000	0.46780	0.561000	0.74099	AGA	ASNSD1	-	NULL	ENSG00000138381		0.398	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	150	0.00	0	G	NM_019048		190535346	190535346	+1	no_errors	ENST00000260952	ensembl	human	known	69_37n	missense	67	23.86	21	SNP	1.000	T
ASPH	444	genome.wustl.edu	37	8	62430671	62430671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:62430671C>A	ENST00000379454.4	-	23	2099	c.1912G>T	c.(1912-1914)Gaa>Taa	p.E638*	ASPH_ENST00000541428.1_Nonsense_Mutation_p.E609*	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	638					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAGGCATTTTCATTTCTTCTT	0.398																																						dbGAP											0													128.0	130.0	130.0					8																	62430671		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1912G>T	8.37:g.62430671C>A	ENSP00000368767:p.Glu638*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Nonsense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E638*	ENST00000379454.4	37	c.1912	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.738794	0.98462	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	.	.	.	5.58	5.58	0.84498	.	0.180393	0.47852	D	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-30.5706	19.5801	0.95464	0.0:1.0:0.0:0.0	.	.	.	.	X	609;638	.	ENSP00000368767:E638X	E	-	1	0	ASPH	62593225	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.454000	0.60068	2.615000	0.88500	0.462000	0.41574	GAA	ASPH	-	pfam_Asp_Arg_b-Hydrxlase	ENSG00000198363		0.398	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	328	0.00	0	C	NM_004318		62430671	62430671	-1	no_errors	ENST00000379454	ensembl	human	known	69_37n	nonsense	250	14.38	42	SNP	1.000	A
ASPH	444	genome.wustl.edu	37	8	62479734	62479734	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:62479734T>G	ENST00000379454.4	-	17	1480	c.1293A>C	c.(1291-1293)caA>caC	p.Q431H	ASPH_ENST00000541428.1_Missense_Mutation_p.Q402H	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	431					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TACCTAGAAATTGTTGCCTGT	0.448																																						dbGAP											0													121.0	96.0	104.0					8																	62479734		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1293A>C	8.37:g.62479734T>G	ENSP00000368767:p.Gln431His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q431H	ENST00000379454.4	37	c.1293	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698434	0.68386	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454	T;T	0.37752	1.18;1.18	5.64	-6.05	0.02172	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.979	T	0.58482	-0.7629	10	0.72032	D	0.01	-21.5821	20.9777	0.99942	0.0:0.8651:0.0:0.1349	.	402;412;431	F5H667;F8W7A9;Q12797	.;.;ASPH_HUMAN	H	412;402;431	ENSP00000437864:Q402H;ENSP00000368767:Q431H	ENSP00000368767:Q431H	Q	-	3	2	ASPH	62642288	0.266000	0.24112	0.903000	0.35520	0.625000	0.37756	-0.437000	0.06914	-1.198000	0.02669	-0.899000	0.02877	CAA	ASPH	-	pfscan_TPR-contain_dom	ENSG00000198363		0.448	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	278	0.00	0	T	NM_004318		62479734	62479734	-1	no_errors	ENST00000379454	ensembl	human	known	69_37n	missense	170	21.66	47	SNP	0.994	G
ASPH	444	genome.wustl.edu	37	8	62559382	62559382	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:62559382C>A	ENST00000379454.4	-	6	733	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ASPH_ENST00000445642.3_Missense_Mutation_p.E168D|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000541428.1_Missense_Mutation_p.E153D|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000522919.1_5'Flank|ASPH_ENST00000356457.5_Missense_Mutation_p.E182D|ASPH_ENST00000517903.1_Missense_Mutation_p.E168D|ASPH_ENST00000517847.2_Missense_Mutation_p.E168D	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	182	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACTCATCATCCTCTTGTTGTG	0.408																																						dbGAP											0													408.0	409.0	409.0					8																	62559382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.546G>T	8.37:g.62559382C>A	ENSP00000368767:p.Glu182Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E182D	ENST00000379454.4	37	c.546	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148144	0.78001	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000517903;ENST00000445642;ENST00000517847	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.48	0.938	0.19500	Aspartyl beta-hydroxylase/Triadin domain (1);	0.973848	0.08505	N	0.935870	T	0.48750	0.1517	N	0.20685	0.6	0.39607	D	0.969826	B;P;D;B;D;B;P;P	0.61697	0.121;0.929;0.96;0.008;0.99;0.037;0.931;0.822	B;P;P;B;P;B;P;B	0.59357	0.069;0.856;0.814;0.014;0.819;0.024;0.761;0.423	T	0.48790	-0.9004	10	0.46703	T	0.11	-16.0753	4.2683	0.10775	0.0:0.3507:0.4295:0.2199	.	182;168;168;153;182;182;168;182	B8Y0L3;B7ZM95;B7ZM96;F5H667;F8W7A9;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;ASPH_HUMAN	D	182;153;182;182;197;168;168;168	ENSP00000437864:E153D;ENSP00000368767:E182D;ENSP00000348841:E182D;ENSP00000427823:E197D;ENSP00000430245:E168D;ENSP00000394013:E168D;ENSP00000429954:E168D	ENSP00000348841:E182D	E	-	3	2	ASPH	62721936	0.034000	0.19679	0.564000	0.28396	0.367000	0.29736	-0.263000	0.08670	0.224000	0.20940	0.655000	0.94253	GAG	ASPH	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000198363		0.408	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	436	0.00	0	C	NM_004318		62559382	62559382	-1	no_errors	ENST00000379454	ensembl	human	known	69_37n	missense	336	12.27	47	SNP	0.867	A
ASPM	259266	genome.wustl.edu	37	1	197062325	197062325	+	Missense_Mutation	SNP	G	G	A	rs142024644		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197062325G>A	ENST00000367409.4	-	21	9407	c.9151C>T	c.(9151-9153)Cgg>Tgg	p.R3051W	ASPM_ENST00000294732.7_Missense_Mutation_p.R1466W|ASPM_ENST00000367408.1_Missense_Mutation_p.R716W	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3051	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATTTCTGCCGAAGAAAGACC	0.353													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17125	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													75.0	82.0	79.0					1																	197062325		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9151C>T	1.37:g.197062325G>A	ENSP00000356379:p.Arg3051Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R3051W	ENST00000367409.4	37	c.9151	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541439	0.65085	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;D	0.95724	-0.58;-0.58;-3.79	5.18	3.29	0.37713	.	0.746374	0.12050	N	0.504231	D	0.96408	0.8828	L	0.52905	1.665	0.09310	N	0.999995	B;B;D	0.89917	0.008;0.005;1.0	B;B;D	0.76071	0.001;0.001;0.987	D	0.89344	0.3656	10	0.72032	D	0.01	.	9.0257	0.36227	0.0774:0.0:0.7748:0.1478	.	1037;1466;3051	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	W	3051;1466;716;1037	ENSP00000356379:R3051W;ENSP00000294732:R1466W;ENSP00000356378:R716W	ENSP00000294732:R1466W	R	-	1	2	ASPM	195328948	0.781000	0.28676	0.015000	0.15790	0.864000	0.49448	3.560000	0.53763	0.554000	0.29061	-0.282000	0.10007	CGG	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	164	0.00	0	G	NM_018136		197062325	197062325	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	88	38.03	54	SNP	0.371	A
ASPM	259266	genome.wustl.edu	37	1	197070795	197070795	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197070795C>T	ENST00000367409.4	-	18	7842	c.7586G>A	c.(7585-7587)aGa>aAa	p.R2529K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2529					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGCCATTGTCTGATATAATT	0.328																																						dbGAP											0													83.0	83.0	83.0					1																	197070795		2202	4296	6498	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7586G>A	1.37:g.197070795C>T	ENSP00000356379:p.Arg2529Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2529K	ENST00000367409.4	37	c.7586	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	2.774	-0.255051	0.05829	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71579	-0.58	4.66	-0.191	0.13252	.	0.495811	0.20411	N	0.092856	T	0.59918	0.2229	N	0.19112	0.55	0.09310	N	0.999998	P;B	0.35612	0.512;0.0	P;B	0.52386	0.697;0.001	T	0.52902	-0.8513	10	0.13470	T	0.59	.	3.8354	0.08891	0.0:0.2903:0.1966:0.5132	.	515;2529	E7EQ84;Q8IZT6	.;ASPM_HUMAN	K	2529;515	ENSP00000356379:R2529K	ENSP00000356376:R515K	R	-	2	0	ASPM	195337418	0.002000	0.14202	0.000000	0.03702	0.246000	0.25737	1.202000	0.32271	0.125000	0.18397	-0.260000	0.10688	AGA	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.328	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	98	0.00	0	C	NM_018136		197070795	197070795	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	73	17.98	16	SNP	0.001	T
ASPM	259266	genome.wustl.edu	37	1	197074201	197074201	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197074201G>T	ENST00000367409.4	-	18	4436	c.4180C>A	c.(4180-4182)Ctt>Att	p.L1394I	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1394	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTAGCCCAAAGATATCGTTTA	0.299																																						dbGAP											0													98.0	94.0	95.0					1																	197074201		2202	4296	6498	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4180C>A	1.37:g.197074201G>T	ENSP00000356379:p.Leu1394Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L1394I	ENST00000367409.4	37	c.4180	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479395	0.44044	.	.	ENSG00000066279	ENST00000367409	T	0.58210	0.35	5.24	4.32	0.51571	.	0.458062	0.20708	N	0.087155	T	0.64983	0.2648	M	0.75447	2.3	0.09310	N	0.999995	P	0.51933	0.949	P	0.55222	0.771	T	0.59204	-0.7498	10	0.22706	T	0.39	.	15.1642	0.72807	0.0:0.2662:0.7338:0.0	.	1394	Q8IZT6	ASPM_HUMAN	I	1394	ENSP00000356379:L1394I	ENSP00000356379:L1394I	L	-	1	0	ASPM	195340824	0.013000	0.17824	0.076000	0.20297	0.949000	0.60115	1.828000	0.39111	1.327000	0.45338	0.650000	0.86243	CTT	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.299	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	176	0.00	0	G	NM_018136		197074201	197074201	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	142	23.66	44	SNP	0.003	T
ASPM	259266	genome.wustl.edu	37	1	197108974	197108974	+	Missense_Mutation	SNP	G	G	T	rs112997359		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197108974G>T	ENST00000367409.4	-	4	2205	c.1949C>A	c.(1948-1950)tCt>tAt	p.S650Y	ASPM_ENST00000294732.7_Missense_Mutation_p.S650Y	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	650					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTGTTTTAGAAATTGGAGT	0.289																																						dbGAP											0													148.0	149.0	148.0					1																	197108974		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1949C>A	1.37:g.197108974G>T	ENSP00000356379:p.Ser650Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.S650Y	ENST00000367409.4	37	c.1949	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	2.428	-0.331575	0.05314	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.59502	0.26;1.54	5.47	0.0834	0.14433	.	0.506503	0.19376	N	0.115778	T	0.43010	0.1228	L	0.50333	1.59	0.09310	N	1	B;B	0.18013	0.001;0.025	B;B	0.12837	0.003;0.008	T	0.23511	-1.0186	10	0.34782	T	0.22	.	4.193	0.10430	0.2767:0.0:0.4788:0.2445	.	650;650	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Y	650	ENSP00000356379:S650Y;ENSP00000294732:S650Y	ENSP00000294732:S650Y	S	-	2	0	ASPM	195375597	0.048000	0.20356	0.252000	0.24328	0.080000	0.17528	0.357000	0.20199	0.001000	0.14605	-0.156000	0.13503	TCT	ASPM	-	NULL	ENSG00000066279		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	422	0.00	0	G	NM_018136		197108974	197108974	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	296	13.41	46	SNP	0.000	T
ASPSCR1	79058	genome.wustl.edu	37	17	79941456	79941456	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:79941456C>A	ENST00000306739.4	+	3	282	c.185C>A	c.(184-186)tCt>tAt	p.S62Y	ASPSCR1_ENST00000581647.1_Missense_Mutation_p.S62Y|ASPSCR1_ENST00000306729.7_Missense_Mutation_p.S62Y|ASPSCR1_ENST00000580534.1_5'UTR	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	62					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTCGACCTTTCTCTCCAGTGG	0.622			T	TFE3	alveolar soft part sarcoma																																	dbGAP		Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													100.0	80.0	87.0					17																	79941456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.185C>A	17.37:g.79941456C>A	ENSP00000302176:p.Ser62Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG,pfam_UBX,pfscan_UBX	p.S62Y	ENST00000306739.4	37	c.185	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521178	0.27211	.	.	ENSG00000169696	ENST00000306739;ENST00000306729	T;T	0.33654	1.4;1.41	3.98	3.98	0.46160	.	0.259629	0.36167	N	0.002755	T	0.60495	0.2273	M	0.85945	2.785	0.80722	D	1	D;D	0.64830	0.994;0.992	P;D	0.64144	0.827;0.922	T	0.68864	-0.5296	10	0.87932	D	0	-16.5922	13.3617	0.60659	0.0:1.0:0.0:0.0	.	62;62	Q9BZE9-2;Q9BZE9	.;ASPC1_HUMAN	Y	62	ENSP00000302176:S62Y;ENSP00000306625:S62Y	ENSP00000306625:S62Y	S	+	2	0	ASPSCR1	77534745	0.999000	0.42202	0.983000	0.44433	0.563000	0.35712	4.323000	0.59221	1.965000	0.57142	0.484000	0.47621	TCT	ASPSCR1	-	pfam_TUG	ENSG00000169696		0.622	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	60	0.00	0	C	NM_024083		79941456	79941456	+1	no_errors	ENST00000306729	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	1.000	A
ASTL	431705	genome.wustl.edu	37	2	96798457	96798457	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96798457G>T	ENST00000342380.2	-	6	458	c.459C>A	c.(457-459)tgC>tgA	p.C153*		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CACTCGAGAAGCACCTGCAGG	0.607																																						dbGAP											0													52.0	52.0	52.0					2																	96798457		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.459C>A	2.37:g.96798457G>T	ENSP00000343674:p.Cys153*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	p.C153*	ENST00000342380.2	37	c.459	CCDS33249.1	2	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964508	0.53507	.	.	ENSG00000188886	ENST00000342380	.	.	.	4.93	3.03	0.35002	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4815	7.082	0.25237	0.3023:0.0:0.6977:0.0	.	.	.	.	X	153	.	ENSP00000343674:C153X	C	-	3	2	ASTL	96162184	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	2.117000	0.41939	0.430000	0.26230	0.551000	0.68910	TGC	ASTL	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo	ENSG00000188886		0.607	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	HGNC	protein_coding	OTTHUMT00000338801.1	33	0.00	0	G			96798457	96798457	-1	no_errors	ENST00000342380	ensembl	human	known	69_37n	nonsense	19	20.83	5	SNP	1.000	T
ASTN1	460	genome.wustl.edu	37	1	176905332	176905332	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:176905332G>T	ENST00000367654.3	-	15	2718				ASTN1_ENST00000361833.2_Intron|ASTN1_ENST00000424564.2_Intron|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGACCAAAGGCTTCTCCCC	0.483																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2506+69C>A	1.37:g.176905332G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	RNA	SNP	-	NULL	ENST00000367654.3	37	NULL		1																																																																																			ASTN1	-	-	ENSG00000152092		0.483	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		176	0.00	0	G	NM_004319		176905332	176905332	-1	no_errors	ENST00000281881	ensembl	human	known	69_37n	rna	107	27.21	40	SNP	0.000	T
ASXL1	171023	genome.wustl.edu	37	20	31024379	31024379	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31024379T>C	ENST00000375687.4	+	13	4288	c.3864T>C	c.(3862-3864)ggT>ggC	p.G1288G	ASXL1_ENST00000306058.5_Silent_p.G1283G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1288					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCAGACAGGTCGGGCCCTGG	0.552			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													79.0	74.0	76.0					20																	31024379		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3864T>C	20.37:g.31024379T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.G1288	ENST00000375687.4	37	c.3864	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.552	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	59	0.00	0	T	NM_015338		31024379	31024379	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.000	C
ASXL2	55252	genome.wustl.edu	37	2	25976476	25976476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:25976476G>A	ENST00000435504.4	-	11	1362	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	ASXL2_ENST00000404843.1_Nonsense_Mutation_p.R97*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.R329*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.R97*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	357					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.R97*(1)|p.R357*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCTTGTCGAATTCTCACC	0.358																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											203.0	194.0	197.0					2																	25976476		1828	4095	5923	-	-	-	SO:0001587	stop_gained	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1069C>T	2.37:g.25976476G>A	ENSP00000391447:p.Arg357*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R357*	ENST00000435504.4	37	c.1069		2	.	.	.	.	.	.	.	.	.	.	G	46	12.202324	0.99646	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.72	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6413	14.8828	0.70545	0.0:0.0:0.8563:0.1437	.	.	.	.	X	357;329;97;97	.	ENSP00000272341:R97X	R	-	1	2	ASXL2	25829980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.932000	0.48940	2.714000	0.92807	0.643000	0.83706	CGA	ASXL2	-	NULL	ENSG00000143970		0.358	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	346	0.29	1	G	NM_018263		25976476	25976476	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	nonsense	215	24.30	69	SNP	1.000	A
ASXL2	55252	genome.wustl.edu	37	2	25982356	25982356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:25982356G>A	ENST00000435504.4	-	9	1227	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ASXL2_ENST00000404843.1_Nonsense_Mutation_p.R52*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.R284*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.R52*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	312					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCACCTGTCGATCTACCTCT	0.378																																						dbGAP											0													167.0	153.0	157.0					2																	25982356		1866	4110	5976	-	-	-	SO:0001587	stop_gained	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.934C>T	2.37:g.25982356G>A	ENSP00000391447:p.Arg312*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R312*	ENST00000435504.4	37	c.934		2	.	.	.	.	.	.	.	.	.	.	G	46	12.343485	0.99659	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.74	4.81	0.61882	.	0.132849	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0636	13.3055	0.60349	0.0:0.0:0.7738:0.2261	.	.	.	.	X	312;284;52;52	.	ENSP00000272341:R52X	R	-	1	2	ASXL2	25835860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.221000	0.51215	2.704000	0.92352	0.655000	0.94253	CGA	ASXL2	-	NULL	ENSG00000143970		0.378	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	237	0.00	0	G	NM_018263		25982356	25982356	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	nonsense	146	28.43	58	SNP	1.000	A
ATAD2	29028	genome.wustl.edu	37	8	124383979	124383979	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:124383979C>T	ENST00000287394.5	-	4	574	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	156					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CCTACAACTTCGACGCACTTC	0.368																																						dbGAP											0													197.0	149.0	165.0					8																	124383979		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.467G>A	8.37:g.124383979C>T	ENSP00000287394:p.Arg156Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R156Q	ENST00000287394.5	37	c.467	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380034	0.82682	.	.	ENSG00000156802	ENST00000287394	T	0.28895	1.59	4.86	4.86	0.63082	.	1.176860	0.05974	N	0.642838	T	0.61098	0.2320	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.45440	-0.9261	10	0.62326	D	0.03	-6.2759	16.7787	0.85558	0.0:1.0:0.0:0.0	.	156	Q6PL18	ATAD2_HUMAN	Q	156	ENSP00000287394:R156Q	ENSP00000287394:R156Q	R	-	2	0	ATAD2	124453160	1.000000	0.71417	0.971000	0.41717	0.617000	0.37484	6.005000	0.70716	2.231000	0.72958	0.561000	0.74099	CGA	ATAD2	-	NULL	ENSG00000156802		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	310	0.00	0	C	NM_014109		124383979	124383979	-1	no_errors	ENST00000287394	ensembl	human	known	69_37n	missense	219	14.73	38	SNP	1.000	T
ATAD2B	54454	genome.wustl.edu	37	2	23980332	23980332	+	Missense_Mutation	SNP	G	G	T	rs375324464		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:23980332G>T	ENST00000238789.5	-	25	4377	c.4034C>A	c.(4033-4035)cCt>cAt	p.P1345H	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1345						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGAGCCAGGTTCTAACTT	0.373																																						dbGAP											0													153.0	144.0	147.0					2																	23980332		1833	4100	5933	-	-	-	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4034C>A	2.37:g.23980332G>T	ENSP00000238789:p.Pro1345His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P1345H	ENST00000238789.5	37	c.4034	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.601|6.601	0.479278|0.479278	0.12581|0.12581	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.91521	.|-2.86	5.26|5.26	4.26|4.26	0.50523|0.50523	.|.	.|3.718980	.|0.01030	.|N	.|0.004134	D|D	0.84982|0.84982	0.5593|0.5593	N|N	0.14661|0.14661	0.345|0.345	0.27546|0.27546	N|N	0.950647|0.950647	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.69580|0.69580	-0.5107|-0.5107	5|10	.|0.46703	.|T	.|0.11	.|.	10.557|10.557	0.45123|0.45123	0.0:0.0:0.6815:0.3185|0.0:0.0:0.6815:0.3185	.|.	.|1345;1340	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	M|H	621|1345;513	.|ENSP00000238789:P1345H	.|ENSP00000238789:P1345H	L|P	-|-	1|2	2|0	ATAD2B|ATAD2B	23833836|23833836	0.774000|0.774000	0.28592|0.28592	0.246000|0.246000	0.24233|0.24233	0.496000|0.496000	0.33645|0.33645	1.473000|1.473000	0.35387|0.35387	2.618000|2.618000	0.88619|0.88619	0.557000|0.557000	0.71058|0.71058	CTG|CCT	ATAD2B	-	NULL	ENSG00000119778		0.373	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	248	0.00	0	G	NM_017552		23980332	23980332	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	missense	157	15.59	29	SNP	0.548	T
ATAD2B	54454	genome.wustl.edu	37	2	24086361	24086361	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:24086361C>A	ENST00000238789.5	-	12	1712	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	457						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTGCATTCATTAGCTAAT	0.403																																						dbGAP											0													36.0	35.0	36.0					2																	24086361		1844	4085	5929	-	-	-	SO:0001587	stop_gained	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1369G>T	2.37:g.24086361C>A	ENSP00000238789:p.Glu457*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E457*	ENST00000238789.5	37	c.1369	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.059403|5.059403	0.93846|0.93846	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789|ENST00000366438	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76227	.|0.3958	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74757	.|-0.3557	.|3	0.72032|.	D|.	0.01|.	.|.	19.4538|19.4538	0.94878|0.94878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	457|78	.|.	ENSP00000238789:E457X|.	E|M	-|-	1|3	0|0	ATAD2B|ATAD2B	23939865|23939865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.676000|2.676000	0.91093|0.91093	0.563000|0.563000	0.77884|0.77884	GAA|ATG	ATAD2B	-	pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,smart_AAA+_ATPase	ENSG00000119778		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1	156	0.00	0	C	NM_017552		24086361	24086361	-1	no_errors	ENST00000238789	ensembl	human	known	69_37n	nonsense	96	20.66	25	SNP	1.000	A
ATF2	1386	genome.wustl.edu	37	2	175983072	175983072	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:175983072G>T	ENST00000264110.2	-	6	523	c.225C>A	c.(223-225)ttC>ttA	p.F75L	ATF2_ENST00000409635.1_Missense_Mutation_p.F17L|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.F75L|ATF2_ENST00000409833.1_Missense_Mutation_p.F75L|ATF2_ENST00000538946.1_Missense_Mutation_p.F57L|ATF2_ENST00000426833.3_Missense_Mutation_p.F57L|ATF2_ENST00000487334.2_Missense_Mutation_p.F57L|ATF2_ENST00000345739.5_Missense_Mutation_p.F17L|ATF2_ENST00000409437.1_Missense_Mutation_p.F57L|ATF2_ENST00000409499.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	75					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	AGTTTTTCAAGAATCTTGTTG	0.313																																					Pancreas(17;87 705 4534 15538 30988)	dbGAP											0													102.0	100.0	100.0					2																	175983072		2202	4299	6501	-	-	-	SO:0001583	missense	0			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.225C>A	2.37:g.175983072G>T	ENSP00000264110:p.Phe75Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.F75L	ENST00000264110.2	37	c.225	CCDS2262.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.95|10.95	1.495336|1.495336	0.26774|0.26774	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946;ENST00000487334;ENST00000437522;ENST00000409833|ENST00000435004	T;T;T;T;T;T;T;T;T|.	0.72835|.	1.71;-0.69;1.71;-0.69;1.71;1.71;1.71;1.71;1.71|.	5.46|5.46	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57858|0.57858	0.2082|0.2082	L|L	0.39245|0.39245	1.2|1.2	0.58432|0.58432	D|D	0.999991|0.999991	P;D;D;P|.	0.89917|.	0.956;1.0;1.0;0.934|.	P;D;D;P|.	0.91635|.	0.899;0.998;0.999;0.871|.	T|T	0.61372|0.61372	-0.7076|-0.7076	10|6	0.49607|0.87932	T|D	0.09|0	-2.4829|-2.4829	10.6944|10.6944	0.45890|0.45890	0.1464:0.0:0.8536:0.0|0.1464:0.0:0.8536:0.0	.|.	57;52;17;75|.	A4D7U4;B3KY57;Q3B7B7;P15336|.	.;.;.;ATF2_HUMAN|.	L|Y	75;17;52;57;17;75;57;57;57;17;75|64	ENSP00000264110:F75L;ENSP00000340576:F17L;ENSP00000386326:F57L;ENSP00000387093:F17L;ENSP00000376327:F75L;ENSP00000407911:F57L;ENSP00000437952:F57L;ENSP00000443513:F57L;ENSP00000386526:F75L|.	ENSP00000264110:F75L|ENSP00000410086:S43Y	F|S	-|-	3|2	2|0	ATF2|ATF2	175691318|175691318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.856000|1.856000	0.39389|0.39389	1.449000|1.449000	0.47699|0.47699	-0.237000|-0.237000	0.12165|0.12165	TTC|TCT	ATF2	-	pirsf_TF_cAMP-dep	ENSG00000115966		0.313	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	738	0.00	0	G	NM_001880		175983072	175983072	-1	no_errors	ENST00000264110	ensembl	human	known	69_37n	missense	333	25.45	114	SNP	1.000	T
ATF6	22926	genome.wustl.edu	37	1	161928323	161928323	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161928323C>T	ENST00000367942.3	+	16	1959	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	631					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S631L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	ATCAAAAGTTCGTCAGTTCCT	0.517																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											185.0	144.0	158.0					1																	161928323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1892C>T	1.37:g.161928323C>T	ENSP00000356919:p.Ser631Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.S631L	ENST00000367942.3	37	c.1892	CCDS1235.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.226069	0.95173	.	.	ENSG00000118217	ENST00000367942	T	0.19806	2.12	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.71036	2.16	0.47341	D	0.999391	D	0.89917	1.0	D	0.80764	0.994	T	0.25433	-1.0132	9	0.87932	D	0	-9.4663	17.2159	0.86944	0.0:1.0:0.0:0.0	.	631	P18850	ATF6A_HUMAN	L	631	ENSP00000356919:S631L	ENSP00000356919:S631L	S	+	2	0	ATF6	160194947	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	6.470000	0.73558	2.657000	0.90304	0.650000	0.86243	TCG	ATF6	-	NULL	ENSG00000118217		0.517	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	HGNC	protein_coding	OTTHUMT00000060304.2	97	0.00	0	C	NM_007348		161928323	161928323	+1	no_errors	ENST00000367942	ensembl	human	known	69_37n	missense	80	19.00	19	SNP	1.000	T
ATG9A	79065	genome.wustl.edu	37	2	220088390	220088390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220088390G>A	ENST00000409618.1	-	10	1955	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	ATG9A_ENST00000361242.4_Nonsense_Mutation_p.R506*|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Nonsense_Mutation_p.R506*|ATG9A_ENST00000409422.1_Nonsense_Mutation_p.R445*			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	506					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAAGTTTCGGAAGAAGTCT	0.547																																						dbGAP											0													64.0	72.0	69.0					2																	220088390		2013	4188	6201	-	-	-	SO:0001587	stop_gained	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1516C>T	2.37:g.220088390G>A	ENSP00000386710:p.Arg506*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.R506*	ENST00000409618.1	37	c.1516	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643542	0.67244	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	.	.	.	5.78	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8365	12.4461	0.55651	0.135:0.0:0.865:0.0	.	.	.	.	X	506;506;506;445;65	.	ENSP00000355173:R506X	R	-	1	2	ATG9A	219796634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.943000	0.63554	0.807000	0.34208	0.650000	0.86243	CGA	ATG9A	-	pfam_Autophagy-rel_prot_9	ENSG00000198925		0.547	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	46	0.00	0	G	NM_024085		220088390	220088390	-1	no_errors	ENST00000361242	ensembl	human	known	69_37n	nonsense	27	30.77	12	SNP	1.000	A
ATG9B	285973	genome.wustl.edu	37	7	150713794	150713794	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:150713794C>T	ENST00000377974.2	-	11	2477	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ATG9B_ENST00000444312.1_Missense_Mutation_p.R287Q|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_3'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662																																						dbGAP											0													35.0	39.0	38.0					7																	150713794		692	1591	2283	-	-	-	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2402G>A	7.37:g.150713794C>T	ENSP00000475005:p.Arg801Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000377974.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441260	0.43326	.	.	ENSG00000248602	ENST00000377974;ENST00000444312	.	.	.	5.54	3.47	0.39725	.	0.544272	0.19726	N	0.107478	T	0.25754	0.0627	.	.	.	.	.	.	B	0.20671	0.047	B	0.15484	0.013	T	0.19192	-1.0313	7	0.15952	T	0.53	-17.2276	7.254	0.26166	0.1735:0.7294:0.0:0.0971	.	802	Q674R7	ATG9B_HUMAN	Q	801;287	.	ENSP00000444232:R801Q	R	-	2	0	AC010973.1	150344727	.	.	0.957000	0.39632	0.907000	0.53573	.	.	2.595000	0.87683	0.561000	0.74099	CGA	ATG9B	-	-	ENSG00000181652		0.662	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		63	0.00	0	C	NM_173681		150713794	150713794	-1	no_errors	ENST00000377974	ensembl	human	known	69_37n	rna	40	11.11	5	SNP	0.675	T
ATL1	51062	genome.wustl.edu	37	14	51087316	51087316	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:51087316G>T	ENST00000358385.6	+	9	1103		c.e9-1		ATL1_ENST00000441560.2_Splice_Site|ATL1_ENST00000357032.3_Splice_Site|ATL1_ENST00000354525.4_Splice_Site	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1						axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTTACTTGTAGAAATAGATGA	0.373																																						dbGAP											0													58.0	60.0	59.0					14																	51087316		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.863-1G>T	14.37:g.51087316G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Splice_Site	SNP	-	e9-1	ENST00000358385.6	37	c.863-1	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200797	0.79015	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.827	0.92123	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATL1	50157066	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.869000	0.99810	2.695000	0.91970	0.561000	0.74099	.	ATL1	-	-	ENSG00000198513		0.373	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	150	0.00	0	G		Intron	51087316	51087316	+1	no_errors	ENST00000357032	ensembl	human	known	69_37n	splice_site	112	15.79	21	SNP	1.000	T
ATL3	25923	genome.wustl.edu	37	11	63410931	63410931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:63410931G>A	ENST00000398868.3	-	8	1024	c.748C>T	c.(748-750)Cga>Tga	p.R250*	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Nonsense_Mutation_p.R232*|ATL3_ENST00000332645.4_Nonsense_Mutation_p.R277*	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	250	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						ATGTGATTTCGAACATTCTGA	0.418																																						dbGAP											0													107.0	103.0	104.0					11																	63410931		1947	4138	6085	-	-	-	SO:0001587	stop_gained	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.748C>T	11.37:g.63410931G>A	ENSP00000381844:p.Arg250*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7W5|Q9H8Q5|Q9UFL1	Nonsense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.R277*	ENST00000398868.3	37	c.829	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.610972	0.98387	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	.	.	.	5.33	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2365	13.4231	0.61009	0.0:0.0:0.8425:0.1575	.	.	.	.	X	250;277;232	.	ENSP00000329034:R277X	R	-	1	2	ATL3	63167507	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	2.642000	0.46596	1.229000	0.43630	0.454000	0.30748	CGA	ATL3	-	pfam_Guanylate-bd_N	ENSG00000184743		0.418	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1	132	0.00	0	G	NM_015459		63410931	63410931	-1	no_errors	ENST00000332645	ensembl	human	known	69_37n	nonsense	92	11.54	12	SNP	1.000	A
ATM	472	genome.wustl.edu	37	11	108117799	108117799	+	Missense_Mutation	SNP	G	G	A	rs202160435	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:108117799G>A	ENST00000452508.2	+	9	1199	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	ATM_ENST00000278616.4_Missense_Mutation_p.R337H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.F336_A340del(1)|p.R337H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCAGGATTTCGTAATATTGCC	0.323			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G|||	2	0.000399361	0.0	0.0029	5008	,	,		17218	0.0		0.0	False		,,,				2504	0.0					dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)											61.0	62.0	61.0					11																	108117799		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1010G>A	11.37:g.108117799G>A	ENSP00000388058:p.Arg337His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R337H	ENST00000452508.2	37	c.1010	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.274975	0.95459	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02301	4.35;4.65;4.65	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.00055	-1.2179	10	0.72032	D	0.01	.	19.8868	0.96915	0.0:0.0:1.0:0.0	.	337	Q13315	ATM_HUMAN	H	337	ENSP00000435747:R337H;ENSP00000278616:R337H;ENSP00000388058:R337H	ENSP00000278616:R337H	R	+	2	0	ATM	107623009	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.141000	0.94612	2.709000	0.92574	0.655000	0.94253	CGT	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	146	0.00	0	G	NM_000051		108117799	108117799	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	91	24.79	30	SNP	1.000	A
ATM	472	genome.wustl.edu	37	11	108200943	108200943	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:108200943A>G	ENST00000452508.2	+	51	7499	c.7310A>G	c.(7309-7311)tAc>tGc	p.Y2437C	ATM_ENST00000278616.4_Missense_Mutation_p.Y2437C|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2437	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TATGCAAGATACACAGTAAAG	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													72.0	76.0	75.0					11																	108200943		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7310A>G	11.37:g.108200943A>G	ENSP00000388058:p.Tyr2437Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y2437C	ENST00000452508.2	37	c.7310	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111867	0.77210	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.90955	-2.76;-2.76	4.7	4.7	0.59300	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95201	0.8317	10	0.66056	D	0.02	.	13.6318	0.62200	1.0:0.0:0.0:0.0	.	2437	Q13315	ATM_HUMAN	C	2437	ENSP00000278616:Y2437C;ENSP00000388058:Y2437C	ENSP00000278616:Y2437C	Y	+	2	0	ATM	107706153	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.584000	0.90798	1.860000	0.53959	0.459000	0.35465	TAC	ATM	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000149311		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	375	0.00	0	A	NM_000051		108200943	108200943	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	253	15.38	46	SNP	1.000	G
ATP10D	57205	genome.wustl.edu	37	4	47525087	47525087	+	Missense_Mutation	SNP	C	C	A	rs200556408		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:47525087C>A	ENST00000273859.3	+	4	813	c.544C>A	c.(544-546)Cgc>Agc	p.R182S	ATP10D_ENST00000504445.1_Missense_Mutation_p.R182S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	182					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGACTTTATTCGCCTCTCCTG	0.388																																						dbGAP											0													106.0	94.0	98.0					4																	47525087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.544C>A	4.37:g.47525087C>A	ENSP00000273859:p.Arg182Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R182S	ENST00000273859.3	37	c.544	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176078	0.78564	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.90563	-2.69;-2.69	5.94	5.94	0.96194	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.131962	0.52532	D	0.000068	D	0.94814	0.8325	M	0.91818	3.245	0.34806	D	0.737181	P;B	0.40107	0.703;0.293	P;P	0.46796	0.527;0.527	D	0.97644	1.0150	10	0.56958	D	0.05	-10.9269	19.3405	0.94339	0.0:1.0:0.0:0.0	.	182;182	Q9P241;Q6PEW3	AT10D_HUMAN;.	S	182	ENSP00000273859:R182S;ENSP00000420909:R182S	ENSP00000273859:R182S	R	+	1	0	ATP10D	47219844	0.981000	0.34729	1.000000	0.80357	0.944000	0.59088	1.908000	0.39907	2.821000	0.97095	0.484000	0.47621	CGC	ATP10D	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000145246		0.388	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	221	0.00	0	C	NM_020453		47525087	47525087	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	150	19.35	36	SNP	1.000	A
ATP10D	57205	genome.wustl.edu	37	4	47574185	47574185	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:47574185G>T	ENST00000273859.3	+	17	3447	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1060					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGTGCCAATGATGTTAGCAT	0.453																																						dbGAP											0													283.0	242.0	256.0					4																	47574185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3178G>T	4.37:g.47574185G>T	ENSP00000273859:p.Asp1060Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D1060Y	ENST00000273859.3	37	c.3178	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775293	0.90108	.	.	ENSG00000145246	ENST00000273859	D	0.99667	-6.34	5.77	5.77	0.91146	HAD-like domain (2);	0.048542	0.85682	D	0.000000	D	0.99813	0.9918	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97032	0.9751	10	0.87932	D	0	-22.9058	18.965	0.92692	0.0:0.0:1.0:0.0	.	1060	Q9P241	AT10D_HUMAN	Y	1060	ENSP00000273859:D1060Y	ENSP00000273859:D1060Y	D	+	1	0	ATP10D	47268942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.828000	0.99408	2.724000	0.93272	0.591000	0.81541	GAT	ATP10D	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000145246		0.453	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	717	0.14	1	G	NM_020453		47574185	47574185	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	506	12.28	71	SNP	1.000	T
ATP11B	23200	genome.wustl.edu	37	3	182559900	182559900	+	Nonsense_Mutation	SNP	G	G	T	rs512215	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:182559900G>T	ENST00000323116.5	+	8	954	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	232					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACAAATGGAAGAAATTGTAAG	0.308																																						dbGAP											0													97.0	103.0	101.0					3																	182559900		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.694G>T	3.37:g.182559900G>T	ENSP00000321195:p.Glu232*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E232*	ENST00000323116.5	37	c.694	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.016437|8.016437	0.98610|0.98610	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.047137|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74596	.|0.3737	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72388	.|-0.4309	.|4	0.22109|.	T|.	0.4|.	.|.	18.0583|18.0583	0.89369|0.89369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	232|32	.|.	ENSP00000321195:E232X|.	E|K	+|+	1|3	0|2	ATP11B|ATP11B	184042594|184042594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.209000|7.209000	0.77916|0.77916	2.710000|2.710000	0.92621|0.92621	0.585000|0.585000	0.79938|0.79938	GAA|AAG	ATP11B	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000058063		0.308	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	567	0.00	0	G	NM_014616		182559900	182559900	+1	no_errors	ENST00000323116	ensembl	human	known	69_37n	nonsense	456	12.31	64	SNP	1.000	T
ATP11B	23200	genome.wustl.edu	37	3	182584203	182584203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:182584203G>T	ENST00000323116.5	+	14	1851	c.1591G>T	c.(1591-1593)Gaa>Taa	p.E531*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	531					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTCACCAGATGAAAAGGCTCT	0.398																																						dbGAP											0													88.0	87.0	87.0					3																	182584203		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1591G>T	3.37:g.182584203G>T	ENSP00000321195:p.Glu531*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E531*	ENST00000323116.5	37	c.1591	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.077213|8.077213	0.98643|0.98643	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74997	.|0.3790	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73471	.|-0.3972	.|4	0.87932|.	D|.	0|.	.|.	19.2761|19.2761	0.94031|0.94031	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	531|331	.|.	ENSP00000321195:E531X|.	E|M	+|+	1|3	0|0	ATP11B|ATP11B	184066897|184066897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.315000|0.315000	0.28087|0.28087	9.420000|9.420000	0.97426|0.97426	2.610000|2.610000	0.88304|0.88304	0.585000|0.585000	0.79938|0.79938	GAA|ATG	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000058063		0.398	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	146	0.00	0	G	NM_014616		182584203	182584203	+1	no_errors	ENST00000323116	ensembl	human	known	69_37n	nonsense	100	11.50	13	SNP	1.000	T
ATP11B	23200	genome.wustl.edu	37	3	182615190	182615190	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:182615190C>A	ENST00000323116.5	+	27	3408	c.3148C>A	c.(3148-3150)Ctc>Atc	p.L1050I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1050					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGGAGGGATTCTCTGGTGAGT	0.318																																						dbGAP											0													79.0	88.0	85.0					3																	182615190		2200	4289	6489	-	-	-	SO:0001583	missense	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3148C>A	3.37:g.182615190C>A	ENSP00000321195:p.Leu1050Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FN1|Q9UKK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L1050I	ENST00000323116.5	37	c.3148	CCDS33896.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	4.667|4.667|4.667	0.124057|0.124057|0.124057	0.08931|0.08931|0.08931	.|.|.	.|.|.	ENSG00000058063|ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116|ENST00000491699	.|T|.	.|0.13307|.	.|2.6|.	5.38|5.38|5.38	2.22|2.22|2.22	0.28083|0.28083|0.28083	.|.|.	.|0.157883|.	.|0.56097|.	.|D|.	.|0.000040|.	T|T|T	0.15349|0.15349|0.15349	0.0370|0.0370|0.0370	N|N|N	0.01235|0.01235|0.01235	-0.94|-0.94|-0.94	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B|.	.|0.06786|.	.|0.001;0.0|.	.|B;B|.	.|0.06405|.	.|0.002;0.0|.	T|T|T	0.05937|0.05937|0.05937	-1.0855|-1.0855|-1.0855	5|10|5	.|0.07990|.	.|T|.	.|0.79|.	.|.|.	4.339|4.339|4.339	0.11101|0.11101|0.11101	0.3735:0.4332:0.0:0.1934|0.3735:0.4332:0.0:0.1934|0.3735:0.4332:0.0:0.1934	.|.|.	.|624;1050|.	.|B3KSJ2;Q9Y2G3|.	.|.;AT11B_HUMAN|.	L|I|Y	850|1050|34	.|ENSP00000321195:L1050I|.	.|ENSP00000321195:L1050I|.	F|L|S	+|+|+	3|1|2	2|0|0	ATP11B|ATP11B|ATP11B	184097884|184097884|184097884	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	4.298000|4.298000|4.298000	0.59067|0.59067|0.59067	1.284000|1.284000|1.284000	0.44531|0.44531|0.44531	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTC|TCT	ATP11B	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000058063		0.318	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	136	0.00	0	C	NM_014616		182615190	182615190	+1	no_errors	ENST00000323116	ensembl	human	known	69_37n	missense	73	24.74	24	SNP	1.000	A
ATP11C	286410	genome.wustl.edu	37	X	138844149	138844149	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:138844149C>A	ENST00000327569.3	-	22	2718	c.2620G>T	c.(2620-2622)Gca>Tca	p.A874S	ATP11C_ENST00000370557.1_Missense_Mutation_p.A868S|ATP11C_ENST00000370543.1_Missense_Mutation_p.A874S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.A874S|ATP11C_ENST00000359686.2_Missense_Mutation_p.A874S	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	874					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|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(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACAAGGTGTGCTATTCTCACA	0.353																																						dbGAP											0													126.0	111.0	116.0					X																	138844149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2620G>T	X.37:g.138844149C>A	ENSP00000332756:p.Ala874Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A874S	ENST00000327569.3	37	c.2620	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553845	0.45487	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	N	0.22421	0.69	0.80722	D	1	P;B;P	0.39480	0.675;0.155;0.675	P;B;B	0.48815	0.591;0.145;0.386	T	0.01202	-1.1420	10	0.02654	T	1	.	17.8829	0.88845	0.0:1.0:0.0:0.0	.	874;874;874	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	S	868;874;874;874;874	ENSP00000359588:A868S;ENSP00000355165:A874S;ENSP00000332756:A874S;ENSP00000359574:A874S;ENSP00000352715:A874S	ENSP00000332756:A874S	A	-	1	0	ATP11C	138671815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.576000	0.60915	2.444000	0.82710	0.544000	0.68410	GCA	ATP11C	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000101974		0.353	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	347	0.00	0	C	NM_173694		138844149	138844149	-1	no_errors	ENST00000327569	ensembl	human	known	69_37n	missense	199	19.43	48	SNP	1.000	A
ATP12A	479	genome.wustl.edu	37	13	25264523	25264523	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:25264523G>A	ENST00000381946.3	+	6	761	c.594G>A	c.(592-594)gaG>gaA	p.E198E	ATP12A_ENST00000218548.6_Silent_p.E198E			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	198					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCCCTTCAGAGCAGCTGGTGG	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)	dbGAP											0													110.0	103.0	106.0					13																	25264523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.594G>A	13.37:g.25264523G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E198	ENST00000381946.3	37	c.594	CCDS31948.1	13																																																																																			ATP12A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000075673		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	328	0.00	0	G	NM_001676		25264523	25264523	+1	no_errors	ENST00000218548	ensembl	human	known	69_37n	silent	255	11.11	32	SNP	1.000	A
ATP13A3	79572	genome.wustl.edu	37	3	194134543	194134543	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:194134543C>T	ENST00000439040.1	-	32	4219	c.3428G>A	c.(3427-3429)cGt>cAt	p.R1143H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R1143H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1143						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATAGTTACACGCCACTGATA	0.343																																						dbGAP											0													217.0	200.0	205.0					3																	194134543		1964	4173	6137	-	-	-	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3428G>A	3.37:g.194134543C>T	ENSP00000416508:p.Arg1143His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.R1143H	ENST00000439040.1	37	c.3428	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800698	0.90538	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88818	-2.43;-2.43	6.03	6.03	0.97812	.	0.048523	0.85682	D	0.000000	D	0.94265	0.8158	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.67725	0.953	D	0.94037	0.7306	10	0.72032	D	0.01	-14.1304	19.545	0.95291	0.0:1.0:0.0:0.0	.	1143	Q9H7F0	AT133_HUMAN	H	1143	ENSP00000416508:R1143H;ENSP00000256031:R1143H	ENSP00000256031:R1143H	R	-	2	0	ATP13A3	195615832	0.996000	0.38824	0.972000	0.41901	0.981000	0.71138	3.437000	0.52863	2.861000	0.98227	0.655000	0.94253	CGT	ATP13A3	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000133657		0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	192	0.00	0	C	NM_024524		194134543	194134543	-1	no_errors	ENST00000256031	ensembl	human	known	69_37n	missense	187	27.52	71	SNP	0.988	T
ATP13A4	84239	genome.wustl.edu	37	3	193272273	193272273	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:193272273T>G	ENST00000342695.4	-	1	383				ATP13A4_ENST00000392443.3_Intron|ATP13A4-AS1_ENST00000426459.1_RNA|ATP13A4-AS1_ENST00000431512.1_RNA|ATP13A4_ENST00000295548.3_Intron	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTCTCTGTTTTCTTTAAAAA	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.60+255A>C	3.37:g.193272273T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	RNA	SNP	-	NULL	ENST00000342695.4	37	NULL	CCDS3304.2	3																																																																																			ATP13A4-AS1	-	-	ENSG00000225473		0.343	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4-AS1	HGNC	protein_coding	OTTHUMT00000157244.4	24	0.00	0	T	NM_032279		193272273	193272273	+1	no_errors	ENST00000426459	ensembl	human	putative	69_37n	rna	14	33.33	7	SNP	0.001	G
ATP13A3	79572	genome.wustl.edu	37	3	194147864	194147864	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:194147864G>T	ENST00000439040.1	-	29	3856	c.3065C>A	c.(3064-3066)tCt>tAt	p.S1022Y	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S1022Y			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1022						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAACCCAAAGATTGAAATCC	0.388																																						dbGAP											0													67.0	65.0	66.0					3																	194147864		1812	4080	5892	-	-	-	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3065C>A	3.37:g.194147864G>T	ENSP00000416508:p.Ser1022Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S1022Y	ENST00000439040.1	37	c.3065	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538635	0.45176	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88277	-2.36;-2.36	5.52	4.6	0.57074	.	0.273764	0.39759	N	0.001280	T	0.76004	0.3927	N	0.03050	-0.425	0.28855	N	0.895831	B	0.06786	0.001	B	0.09377	0.004	T	0.61797	-0.6989	10	0.22706	T	0.39	-0.7796	17.967	0.89102	0.0:0.131:0.869:0.0	.	1022	Q9H7F0	AT133_HUMAN	Y	1022	ENSP00000416508:S1022Y;ENSP00000256031:S1022Y	ENSP00000256031:S1022Y	S	-	2	0	ATP13A3	195629153	0.798000	0.28890	1.000000	0.80357	0.996000	0.88848	1.772000	0.38552	2.587000	0.87381	0.585000	0.79938	TCT	ATP13A3	-	tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000133657		0.388	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	299	0.00	0	G	NM_024524		194147864	194147864	-1	no_errors	ENST00000256031	ensembl	human	known	69_37n	missense	212	12.40	30	SNP	0.999	T
ATP1A1	476	genome.wustl.edu	37	1	116936207	116936207	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:116936207A>C	ENST00000295598.5	+	12	1774	c.1522A>C	c.(1522-1524)Aag>Cag	p.K508Q	ATP1A1_ENST00000369496.4_Missense_Mutation_p.K477Q|ATP1A1_ENST00000537345.1_Missense_Mutation_p.K508Q	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	508					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTTGGTGATGAAGGGCGCCCC	0.522																																						dbGAP											0													107.0	112.0	111.0					1																	116936207		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1522A>C	1.37:g.116936207A>C	ENSP00000295598:p.Lys508Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.K508Q	ENST00000295598.5	37	c.1522	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883645	0.91740	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.91740	-2.9;-2.9;-2.9	4.82	4.82	0.62117	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99334	1.0910	10	0.87932	D	0	.	14.8259	0.70113	1.0:0.0:0.0:0.0	.	508;508	F5H3A1;P05023	.;AT1A1_HUMAN	Q	508;508;507;477	ENSP00000295598:K508Q;ENSP00000445306:K508Q;ENSP00000358508:K477Q	ENSP00000295598:K508Q	K	+	1	0	ATP1A1	116737730	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.963000	0.93385	2.152000	0.67230	0.528000	0.53228	AAG	ATP1A1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.522	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	291	0.00	0	A	NM_001160233		116936207	116936207	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	196	19.01	46	SNP	1.000	C
ATP1A2	477	genome.wustl.edu	37	1	160093110	160093110	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160093110C>T	ENST00000361216.3	+	4	374	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ATP1A2_ENST00000392233.3_Silent_p.F95F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCT	0.602																																						dbGAP											0													195.0	198.0	197.0					1																	160093110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.285C>T	1.37:g.160093110C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.F95	ENST00000361216.3	37	c.285	CCDS1196.1	1																																																																																			ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000018625		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	234	0.00	0	C	NM_000702		160093110	160093110	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	silent	145	21.39	40	SNP	0.977	T
ATP1B1	481	genome.wustl.edu	37	1	169100531	169100531	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169100531G>A	ENST00000367816.1	+	7	1179	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	ATP1B1_ENST00000367815.4_Splice_Site_p.R217Q|ATP1B1_ENST00000499679.3_Splice_Site_p.R161Q|ATP1B1_ENST00000367813.3_Splice_Site_p.R209Q			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	217	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GGATTTCAGCGAGATGAAGAT	0.393																																						dbGAP											0													138.0	139.0	139.0					1																	169100531		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.649-1G>A	1.37:g.169100531G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGZ3	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.R217Q	ENST00000367816.1	37	c.650	CCDS1276.1	1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414383	0.42817	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.46	5.46	0.80206	.	0.099607	0.64402	D	0.000002	T	0.33323	0.0859	M	0.75447	2.3	0.45594	D	0.998536	D	0.69078	0.997	P	0.54174	0.744	T	0.16364	-1.0405	9	0.21540	T	0.41	-26.4881	13.579	0.61891	0.0745:0.0:0.9255:0.0	.	217	P05026	AT1B1_HUMAN	Q	217;217;161;209	ENSP00000356790:R217Q;ENSP00000356789:R217Q;ENSP00000423450:R161Q;ENSP00000356787:R209Q	ENSP00000356787:R209Q	R	+	2	0	ATP1B1	167367155	1.000000	0.71417	0.764000	0.31436	0.091000	0.18340	4.034000	0.57289	2.568000	0.86640	0.650000	0.86243	CGA	ATP1B1	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000143153		0.393	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	202	0.00	0	G		Missense_Mutation	169100531	169100531	+1	no_errors	ENST00000367815	ensembl	human	known	69_37n	missense	188	10.43	22	SNP	1.000	A
ATP2A1	487	genome.wustl.edu	37	16	28895923	28895923	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:28895923G>A	ENST00000357084.3	+	6	758	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R164Q|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R39Q|SNORA43_ENST00000516652.1_RNA	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	164					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCAGACATCCGAATCCTCGCC	0.557																																						dbGAP											0													64.0	57.0	59.0					16																	28895923		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.491G>A	16.37:g.28895923G>A	ENSP00000349595:p.Arg164Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R164Q	ENST00000357084.3	37	c.491	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.166365	0.94768	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.91521	-2.86;-2.86;-2.86	5.99	5.99	0.97316	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.049251	0.85682	N	0.000000	D	0.96568	0.8880	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.97110	1.0;0.968;0.945	D	0.96766	0.9565	10	0.87932	D	0	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	39;164;164	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	164;164;201;39	ENSP00000349595:R164Q;ENSP00000378879:R164Q;ENSP00000443101:R39Q	ENSP00000349595:R164Q	R	+	2	0	ATP2A1	28803424	1.000000	0.71417	0.972000	0.41901	0.965000	0.64279	9.835000	0.99442	2.843000	0.97960	0.655000	0.94253	CGA	ATP2A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000196296		0.557	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	34	0.00	0	G	NM_004320		28895923	28895923	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	missense	20	30.00	9	SNP	1.000	A
ATP2B1	490	genome.wustl.edu	37	12	89985069	89985069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:89985069G>A	ENST00000428670.3	-	21	3811	c.3355C>T	c.(3355-3357)Cga>Tga	p.R1119*	AC068641.1_ENST00000585304.1_RNA|ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.R862*|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.R1119*|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.R1083*|ATP2B1_ENST00000359142.3_Missense_Mutation_p.S1170L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1157	Calmodulin-binding subdomain B.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTCACCACTCGAATCTGTAAA	0.328																																						dbGAP											0													51.0	50.0	50.0					12																	89985069		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3355C>T	12.37:g.89985069G>A	ENSP00000392043:p.Arg1119*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R1119*	ENST00000428670.3	37	c.3355	CCDS9035.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.086656|10.086656	0.99333|0.99333	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164|ENST00000359142	.|D	.|0.93133	.|-3.17	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.309128|.	0.32578|.	N|.	0.005911|.	.|D	.|0.90954	.|0.7156	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.17268	.|0.021	.|B	.|0.14578	.|0.011	.|D	.|0.87176	.|0.2224	.|8	0.02654|0.45353	T|T	1|0.12	-17.166|-17.166	18.7023|18.7023	0.91625|0.91625	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1170	.|P20020-2	.|.	X|L	1119;1083;1119;862|1170	.|ENSP00000352054:S1170L	ENSP00000261173:R1119X|ENSP00000352054:S1170L	R|S	-|-	1|2	2|0	ATP2B1|ATP2B1	88509200|88509200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.407000|2.407000	0.81776|0.81776	0.591000|0.591000	0.81541|0.81541	CGA|TCG	ATP2B1	-	pfam_ATP_Ca_trans_C	ENSG00000070961		0.328	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	107	0.00	0	G	NM_001682		89985069	89985069	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	nonsense	97	17.65	21	SNP	1.000	A
ATP2B1	490	genome.wustl.edu	37	12	90013815	90013815	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:90013815C>T	ENST00000428670.3	-	11	2246	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	ATP2B1_ENST00000393164.2_Missense_Mutation_p.R340Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R597Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R597Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R597Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	597					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R597Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GCTGAATATTCGATAACTTCC	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											113.0	110.0	111.0					12																	90013815		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1790G>A	12.37:g.90013815C>T	ENSP00000392043:p.Arg597Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R597Q	ENST00000428670.3	37	c.1790	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.374897	0.95923	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.72624	2.21	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.994	D;P;P	0.77557	0.99;0.747;0.516	D	0.97880	1.0291	10	0.66056	D	0.02	-38.6369	19.3416	0.94344	0.0:1.0:0.0:0.0	.	597;597;597	P20020-3;P20020-2;P20020-6	.;.;.	Q	597;597;597;597;340	ENSP00000261173:R597Q;ENSP00000343599:R597Q;ENSP00000352054:R597Q;ENSP00000392043:R597Q;ENSP00000376869:R340Q	ENSP00000261173:R597Q	R	-	2	0	ATP2B1	88537946	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	6.086000	0.71352	2.560000	0.86352	0.467000	0.42956	CGA	ATP2B1	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000070961		0.353	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	114	0.00	0	C	NM_001682		90013815	90013815	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	86	18.10	19	SNP	1.000	T
ATP2B1	490	genome.wustl.edu	37	12	90028639	90028639	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:90028639C>T	ENST00000428670.3	-	5	1159	c.703G>A	c.(703-705)Gat>Aat	p.D235N	ATP2B1_ENST00000261173.2_Missense_Mutation_p.D235N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.D235N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.D235N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	235					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTTTAAGATCGTTGCCTTGA	0.299																																						dbGAP											0													56.0	54.0	55.0					12																	90028639		2203	4299	6502	-	-	-	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.703G>A	12.37:g.90028639C>T	ENSP00000392043:p.Asp235Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.D235N	ENST00000428670.3	37	c.703	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.217610	0.95104	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.91436	0.7297	L	0.31157	0.91	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.953	D	0.89698	0.3903	9	.	.	.	-6.569	20.1615	0.98135	0.0:1.0:0.0:0.0	.	235;235	P20020-3;P20020-2	.;.	N	235	ENSP00000261173:D235N;ENSP00000343599:D235N;ENSP00000352054:D235N;ENSP00000392043:D235N	.	D	-	1	0	ATP2B1	88552770	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	GAT	ATP2B1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000070961		0.299	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	110	0.00	0	C	NM_001682		90028639	90028639	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	missense	97	18.49	22	SNP	1.000	T
ATP2B2	491	genome.wustl.edu	37	3	10387137	10387137	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:10387137G>T	ENST00000352432.4	-	17	2703	c.2634C>A	c.(2632-2634)ttC>ttA	p.F878L	ATP2B2_ENST00000343816.4_Missense_Mutation_p.F864L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.F833L|ATP2B2_ENST00000397077.1_Missense_Mutation_p.F833L|ATP2B2_ENST00000360273.2_Missense_Mutation_p.F878L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	878					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGAACTGCAAGAATTTGGAGA	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													213.0	150.0	172.0					3																	10387137		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2634C>A	3.37:g.10387137G>T	ENSP00000324172:p.Phe878Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.F878L	ENST00000352432.4	37	c.2634	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305479	0.81247	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58;-4.58	4.06	4.06	0.47325	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98773	0.9587	M	0.86805	2.84	0.80722	D	1	D;D;D	0.89917	0.982;1.0;1.0	D;D;D	0.97110	0.961;1.0;1.0	D	0.99826	1.1050	10	0.87932	D	0	-30.6095	16.6121	0.84886	0.0:0.0:1.0:0.0	.	813;845;878	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	878;833;833;878;864;813;67;734;878	ENSP00000324172:F878L;ENSP00000373311:F833L;ENSP00000380267:F833L;ENSP00000353414:F878L;ENSP00000344677:F864L;ENSP00000414854:F734L	ENSP00000342954:F878L	F	-	3	2	ATP2B2	10362137	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.130000	0.42064	1.989000	0.58080	0.484000	0.47621	TTC	ATP2B2	-	tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000157087		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	244	0.00	0	G	NM_001683		10387137	10387137	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	missense	152	12.14	21	SNP	1.000	T
ATP2B2	491	genome.wustl.edu	37	3	10430013	10430013	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:10430013G>T	ENST00000352432.4	-	5	924	c.855C>A	c.(853-855)atC>atA	p.I285I	ATP2B2_ENST00000343816.4_Silent_p.I285I|ATP2B2_ENST00000383800.4_Silent_p.I285I|ATP2B2_ENST00000397077.1_Silent_p.I285I|ATP2B2_ENST00000360273.2_Silent_p.I285I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	285					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGAGGGTAAAGATGATGCCAG	0.527																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													262.0	234.0	244.0					3																	10430013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.855C>A	3.37:g.10430013G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.I285	ENST00000352432.4	37	c.855	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom	ENSG00000157087		0.527	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	410	0.00	0	G	NM_001683		10430013	10430013	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	silent	385	16.85	78	SNP	1.000	T
ATP2B3	492	genome.wustl.edu	37	X	152826285	152826285	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:152826285C>T	ENST00000349466.2	+	18	3317	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	ATP2B3_ENST00000370181.2_Silent_p.F983F|ATP2B3_ENST00000359149.3_Silent_p.F997F|ATP2B3_ENST00000393842.1_Silent_p.F983F|ATP2B3_ENST00000263519.4_Silent_p.F997F|ATP2B3_ENST00000370186.1_Silent_p.F983F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	997					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAACGTGTTCGACGGCATCT	0.552																																						dbGAP											0													305.0	217.0	247.0					X																	152826285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2991C>T	X.37:g.152826285C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.F997	ENST00000349466.2	37	c.2991	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000067842		0.552	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	323	0.00	0	C	NM_021949		152826285	152826285	+1	no_errors	ENST00000263519	ensembl	human	known	69_37n	silent	153	24.39	50	SNP	0.990	T
ATP2C1	27032	genome.wustl.edu	37	3	130714897	130714897	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130714897G>A	ENST00000510168.1	+	23	2618	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	ATP2C1_ENST00000504948.1_Missense_Mutation_p.E674K|ATP2C1_ENST00000508532.1_Missense_Mutation_p.E690K|ATP2C1_ENST00000507488.2_Missense_Mutation_p.E674K|ATP2C1_ENST00000422190.2_Missense_Mutation_p.E690K|ATP2C1_ENST00000513801.1_Missense_Mutation_p.E674K|ATP2C1_ENST00000393221.4_Missense_Mutation_p.E724K|ATP2C1_ENST00000504381.1_Missense_Mutation_p.E635K|ATP2C1_ENST00000428331.2_Missense_Mutation_p.E690K|ATP2C1_ENST00000505330.1_Missense_Mutation_p.E674K|ATP2C1_ENST00000328560.8_Missense_Mutation_p.E690K|ATP2C1_ENST00000533801.2_Missense_Mutation_p.E685K|ATP2C1_ENST00000359644.3_Missense_Mutation_p.E690K			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	690					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E690K(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCTGCAATCGAAGAGGGTAA	0.299									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											78.0	93.0	88.0					3																	130714897		2202	4297	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2068G>A	3.37:g.130714897G>A	ENSP00000427461:p.Glu690Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E724K	ENST00000510168.1	37	c.2170	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.593587	0.96602	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	5.75	5.75	0.90469	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.99;1.0;0.99;1.0;1.0	D;D;P;D;P;D;D	0.81914	0.995;0.988;0.754;0.995;0.754;0.995;0.988	D	0.97774	1.0228	10	0.44086	T	0.13	.	19.9312	0.97120	0.0:0.0:1.0:0.0	.	724;685;724;690;724;690;690	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	K	674;635;674;724;685;690;690;674;674;690;690;690;690;689	ENSP00000423774:E674K;ENSP00000425320:E635K;ENSP00000421326:E674K;ENSP00000376914:E724K;ENSP00000432956:E685K;ENSP00000427461:E690K;ENSP00000424783:E690K;ENSP00000423330:E674K;ENSP00000422872:E674K;ENSP00000329664:E690K;ENSP00000395809:E690K;ENSP00000352665:E690K;ENSP00000402677:E690K	ENSP00000329664:E690K	E	+	1	0	ATP2C1	132197587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.689000	0.98673	2.720000	0.93068	0.491000	0.48974	GAA	ATP2C1	-	prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000017260		0.299	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	95	0.00	0	G	NM_001001486		130714897	130714897	+1	no_errors	ENST00000393221	ensembl	human	known	69_37n	missense	57	21.92	16	SNP	1.000	A
ATP2C2	9914	genome.wustl.edu	37	16	84480011	84480011	+	Missense_Mutation	SNP	C	C	T	rs531822897		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:84480011C>T	ENST00000262429.4	+	16	1567	c.1478C>T	c.(1477-1479)gCg>gTg	p.A493V	ATP2C2_ENST00000416219.2_Missense_Mutation_p.A493V|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	493					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AAGTGGATGGCGGTGAAATGC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		16124	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													65.0	71.0	69.0					16																	84480011		1833	4086	5919	-	-	-	SO:0001583	missense	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1478C>T	16.37:g.84480011C>T	ENSP00000262429:p.Ala493Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.A493V	ENST00000262429.4	37	c.1478	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668853	0.88348	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.70749	-0.51;-0.51	4.85	4.85	0.62838	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000004	T	0.82066	0.4956	M	0.65320	2	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.987;0.998;0.999	D;P;D;D	0.70716	0.952;0.86;0.95;0.97	D	0.84314	0.0512	10	0.87932	D	0	.	17.304	0.87190	0.0:1.0:0.0:0.0	.	493;342;510;493	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	493;493;342	ENSP00000397925:A493V;ENSP00000262429:A493V	ENSP00000262429:A493V	A	+	2	0	ATP2C2	83037512	1.000000	0.71417	0.945000	0.38365	0.528000	0.34623	5.063000	0.64332	2.400000	0.81607	0.561000	0.74099	GCG	ATP2C2	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000064270		0.398	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	149	0.00	0	C	NM_014861		84480011	84480011	+1	no_errors	ENST00000262429	ensembl	human	known	69_37n	missense	52	15.87	10	SNP	1.000	T
ATP5A1	498	genome.wustl.edu	37	18	43664271	43664271	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:43664271A>C	ENST00000398752.6	-	12	1760	c.1639T>G	c.(1639-1641)Ttc>Gtc	p.F547V	ATP5A1_ENST00000593152.2_Missense_Mutation_p.F497V|ATP5A1_ENST00000282050.2_Missense_Mutation_p.F547V|ATP5A1_ENST00000590665.1_Missense_Mutation_p.F525V	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	547					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CCAGCCAAGAAATTTGTTACA	0.363																																						dbGAP											0													91.0	86.0	88.0					18																	43664271		2202	4300	6502	-	-	-	SO:0001583	missense	0			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1639T>G	18.37:g.43664271A>C	ENSP00000381736:p.Phe547Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_F1-cplx_asu	p.F547V	ENST00000398752.6	37	c.1639	CCDS11927.1	18	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264695	0.80358	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81908	-1.55;-1.55	5.22	5.22	0.72569	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91680	0.7370	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93077	0.6488	10	0.87932	D	0	-11.8739	15.1154	0.72397	1.0:0.0:0.0:0.0	.	547	P25705	ATPA_HUMAN	V	547;547;497	ENSP00000282050:F547V;ENSP00000381736:F547V	ENSP00000282050:F547V	F	-	1	0	ATP5A1	41918269	1.000000	0.71417	0.990000	0.47175	0.730000	0.41778	9.253000	0.95501	1.972000	0.57404	0.533000	0.62120	TTC	ATP5A1	-	superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_asu	ENSG00000152234		0.363	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5A1	HGNC	protein_coding	OTTHUMT00000255884.1	357	0.00	0	A	NM_004046		43664271	43664271	-1	no_errors	ENST00000282050	ensembl	human	known	69_37n	missense	225	14.45	38	SNP	1.000	C
ATP5SL	55101	genome.wustl.edu	37	19	41939320	41939320	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:41939320C>A	ENST00000221943.9	-	5	458	c.453G>T	c.(451-453)caG>caT	p.Q151H	ATP5SL_ENST00000590641.2_Missense_Mutation_p.Q130H|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000592922.2_Missense_Mutation_p.Q124H|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Q157H|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Q124H	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	151						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GCGACAAGGACTGGAGCTCCT	0.642																																						dbGAP											0													56.0	60.0	58.0					19																	41939320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.453G>T	19.37:g.41939320C>A	ENSP00000221943:p.Gln151His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	NULL	p.Q157H	ENST00000221943.9	37	c.471	CCDS33032.1	19	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563558	0.45694	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000507129	T;T	0.76709	-1.04;-1.04	4.43	3.36	0.38483	.	0.272311	0.30356	N	0.009818	D	0.85340	0.5674	M	0.86420	2.815	0.27719	N	0.945186	D;D;P;D	0.65815	0.995;0.958;0.928;0.991	P;P;P;P	0.61201	0.885;0.66;0.662;0.835	T	0.77948	-0.2396	10	0.72032	D	0.01	-12.9663	6.1488	0.20301	0.0:0.7051:0.1933:0.1016	.	130;124;151;157	B4DFT4;E9PDC6;Q9NW81;F5H4W7	.;.;AT5SL_HUMAN;.	H	151;124;157;227	ENSP00000221943:Q151H;ENSP00000403910:Q157H	ENSP00000221943:Q151H	Q	-	3	2	ATP5SL	46631160	0.010000	0.17322	0.985000	0.45067	0.484000	0.33280	0.551000	0.23361	1.168000	0.42723	0.563000	0.77884	CAG	ATP5SL	-	NULL	ENSG00000105341		0.642	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	90	0.00	0	C	NM_018035		41939320	41939320	-1	no_errors	ENST00000417807	ensembl	human	known	69_37n	missense	51	26.09	18	SNP	0.964	A
ATP6AP2	10159	genome.wustl.edu	37	X	40456897	40456897	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:40456897C>A	ENST00000378438.4	+	5	673	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.S140Y|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.S96Y|ATP6AP2_ENST00000486558.1_3'UTR	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	172					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						CCCCTCAATTCTCTGAGTAGG	0.398																																						dbGAP											0													81.0	76.0	78.0					X																	40456897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.515C>A	X.37:g.40456897C>A	ENSP00000367697:p.Ser172Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	pfam_Renin_rcpt	p.S172Y	ENST00000378438.4	37	c.515	CCDS14252.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.888634|3.888634	0.72524|0.72524	.|.	.|.	ENSG00000182220|ENSG00000182220	ENST00000447485|ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975	.|T;T;T;T	.|0.53423	.|1.43;1.39;0.62;1.4	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.046793	.|0.85682	.|D	.|0.000000	T|T	0.67692|0.67692	0.2920|0.2920	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.83275	.|0.996;0.991;0.965	T|T	0.70350|0.70350	-0.4896|-0.4896	5|10	.|0.66056	.|D	.|0.02	-21.3348|-21.3348	18.2563|18.2563	0.90021|0.90021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;96;172	.|B7Z9I3;B7Z413;O75787	.|.;.;RENR_HUMAN	I|Y	147|140;172;172;96	.|ENSP00000438415:S140Y;ENSP00000367697:S172Y;ENSP00000403969:S172Y;ENSP00000440459:S96Y	.|ENSP00000367697:S172Y	L|S	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40341841|40341841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.922000|0.922000	0.55478|0.55478	7.232000|7.232000	0.78116|0.78116	2.336000|2.336000	0.79503|0.79503	0.513000|0.513000	0.50165|0.50165	CTC|TCT	ATP6AP2	-	NULL	ENSG00000182220		0.398	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP2	HGNC	protein_coding	OTTHUMT00000060679.1	146	0.00	0	C	NM_005765		40456897	40456897	+1	no_errors	ENST00000378438	ensembl	human	known	69_37n	missense	112	14.50	19	SNP	1.000	A
ATP6V0A1	535	genome.wustl.edu	37	17	40613024	40613024	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:40613024C>T	ENST00000343619.4	+	2	235	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.R38C|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.R38C|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.R38C|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.R38C|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.R38C	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	38					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGTTCAGTTTCGTGACGTAAG	0.418																																						dbGAP											0													241.0	247.0	245.0					17																	40613024		2203	4300	6503	-	-	-	SO:0001583	missense	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.112C>T	17.37:g.40613024C>T	ENSP00000342951:p.Arg38Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.R38C	ENST00000343619.4	37	c.112	CCDS45684.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719913	0.89205	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.94101	3.495	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.987;0.996;0.999;0.977;1.0	D	0.96304	0.9223	10	0.87932	D	0	-11.3025	19.3285	0.94273	0.0:1.0:0.0:0.0	.	38;38;38;38;38;38	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	C	38	ENSP00000342951:R38C;ENSP00000444676:R38C;ENSP00000377415:R38C;ENSP00000264649:R38C;ENSP00000443991:R38C	ENSP00000264649:R38C	R	+	1	0	ATP6V0A1	37866550	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.707000	0.54838	2.641000	0.89580	0.561000	0.74099	CGT	ATP6V0A1	-	pfam_ATPase_V0/A0_a	ENSG00000033627		0.418	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	520	0.00	0	C	NM_001130020		40613024	40613024	+1	no_errors	ENST00000264649	ensembl	human	known	69_37n	missense	289	16.67	58	SNP	1.000	T
ATP6V0A2	23545	genome.wustl.edu	37	12	124218544	124218544	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124218544G>T	ENST00000330342.3	+	7	968	c.720G>T	c.(718-720)aaG>aaT	p.K240N		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	240					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGGTTAAGAAGATATGTGATT	0.343																																						dbGAP											0													149.0	152.0	151.0					12																	124218544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.720G>T	12.37:g.124218544G>T	ENSP00000332247:p.Lys240Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K026|Q6NUM0	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.K240N	ENST00000330342.3	37	c.720	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076067	0.76415	.	.	ENSG00000185344	ENST00000330342;ENST00000541854;ENST00000504192	D;D	0.87966	-2.32;-2.32	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.986;0.998	D	0.94807	0.7975	10	0.87932	D	0	-39.7217	13.0187	0.58773	0.0738:0.0:0.9262:0.0	.	240;240	Q9Y487;Q8TBM3	VPP2_HUMAN;.	N	240;240;110	ENSP00000332247:K240N;ENSP00000443441:K110N	ENSP00000332247:K240N	K	+	3	2	ATP6V0A2	122784497	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.326000	0.65875	2.674000	0.91012	0.591000	0.81541	AAG	ATP6V0A2	-	pfam_ATPase_V0/A0_a	ENSG00000185344		0.343	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	407	0.00	0	G	NM_012463		124218544	124218544	+1	no_errors	ENST00000330342	ensembl	human	known	69_37n	missense	283	27.99	110	SNP	1.000	T
ATP6V0A4	50617	genome.wustl.edu	37	7	138433922	138433922	+	Missense_Mutation	SNP	C	C	A	rs201159182		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:138433922C>A	ENST00000310018.2	-	12	1452	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.E390D|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.E390D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	390					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTGGGTTTATCTCCCGGTAGC	0.473																																						dbGAP											0													120.0	118.0	119.0					7																	138433922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1170G>T	7.37:g.138433922C>A	ENSP00000308122:p.Glu390Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.E390D	ENST00000310018.2	37	c.1170	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288961	0.59976	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.97430	-4.38;-4.38;-4.38	5.13	3.95	0.45737	.	0.000000	0.64402	D	0.000001	D	0.98858	0.9614	H	0.97491	4.015	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.98427	1.0580	10	0.87932	D	0	-19.827	9.8319	0.40948	0.0:0.801:0.0:0.199	.	390	Q9HBG4	VPP4_HUMAN	D	390	ENSP00000308122:E390D;ENSP00000376774:E390D;ENSP00000253856:E390D	ENSP00000308122:E390D	E	-	3	2	ATP6V0A4	138084462	0.994000	0.37717	1.000000	0.80357	0.554000	0.35429	0.427000	0.21379	0.786000	0.33708	0.561000	0.74099	GAG	ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.473	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	213	0.00	0	C	NM_020632		138433922	138433922	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	missense	153	11.56	20	SNP	1.000	A
ATP6V0E1	8992	genome.wustl.edu	37	5	172421821	172421821	+	Missense_Mutation	SNP	C	C	T	rs207466625		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:172421821C>T	ENST00000519374.1	+	2	252	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L50F|ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L50F|ATP6V0E1_ENST00000265093.4_Intron	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	50					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGCTGCTATCTCTTGTAAGT	0.299																																						dbGAP											0													222.0	204.0	210.0					5																	172421821		2201	4297	6498	-	-	-	SO:0001583	missense	0			Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"""ATPases / V-type"""	863	protein-coding gene	gene with protein product		603931	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD"", ""ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"""	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.148C>T	5.37:g.172421821C>T	ENSP00000429690:p.Leu50Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R557|D3DQM1|Q6IBE8	Missense_Mutation	SNP	pfam_ATPase_V0-cplx_esu,pirsf_ATPase_V0-cplx_esu_met	p.L50F	ENST00000519374.1	37	c.148	CCDS4383.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017477	0.75161	.	.	ENSG00000113732	ENST00000519374;ENST00000519911;ENST00000517669	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.77725	0.4173	.	.	.	0.58432	D	0.999999	D	0.60575	0.988	D	0.67900	0.954	T	0.80379	-0.1407	8	0.87932	D	0	-0.5934	13.8346	0.63402	0.0:1.0:0.0:0.0	.	50	O15342	VA0E1_HUMAN	F	50	.	ENSP00000427941:L50F	L	+	1	0	ATP6V0E1	172354427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.813000	0.38962	2.627000	0.88993	0.655000	0.94253	CTC	ATP6V0E1	-	pfam_ATPase_V0-cplx_esu,pirsf_ATPase_V0-cplx_esu_met	ENSG00000113732		0.299	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0E1	HGNC	protein_coding	OTTHUMT00000252935.2	678	0.00	0	C	NM_003945		172421821	172421821	+1	no_errors	ENST00000517669	ensembl	human	known	69_37n	missense	494	28.09	193	SNP	1.000	T
ATP6V1B1	525	genome.wustl.edu	37	2	71192113	71192113	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71192113C>T	ENST00000234396.4	+	14	1477	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.F451F|RN7SL160P_ENST00000468558.2_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	468					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCTCGGTGTTCGAGTCGCTGG	0.612											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													47.0	48.0	48.0					2																	71192113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1404C>T	2.37:g.71192113C>T		Somatic	1128	WXS	Illumina GAIIx	Phase_IV	Q53FY0|Q6P4H6	Silent	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.F468	ENST00000234396.4	37	c.1404	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.612	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	35	0.00	0	C	NM_001692		71192113	71192113	+1	no_errors	ENST00000234396	ensembl	human	known	69_37n	silent	20	31.03	9	SNP	0.986	T
ATP6V1B2	526	genome.wustl.edu	37	8	20068139	20068139	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:20068139G>T	ENST00000276390.2	+	5	485	c.445G>T	c.(445-447)Gac>Tac	p.D149Y		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	149					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	ACTGGCCGAAGACTTCCTTGA	0.443																																					Pancreas(119;1230 1726 3901 4036 31644)	dbGAP											0													159.0	151.0	154.0					8																	20068139		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.445G>T	8.37:g.20068139G>T	ENSP00000276390:p.Asp149Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.D149Y	ENST00000276390.2	37	c.445	CCDS6014.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792809|4.792809	0.90453|0.90453	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000276390;ENST00000542368|ENST00000519667	D|.	0.81739|.	-1.53|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.086938|.	0.85682|.	D|.	0.000000|.	D|D	0.85969|0.85969	0.5821|0.5821	M|M	0.91612|0.91612	3.225|3.225	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	P|.	0.60345|.	0.873|.	D|D	0.88306|0.88306	0.2953|0.2953	10|5	0.87932|.	D|.	0|.	-0.9039|-0.9039	18.5427|18.5427	0.91035|0.91035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	149|.	P21281|.	VATB2_HUMAN|.	Y|I	149;23|138	ENSP00000276390:D149Y|.	ENSP00000276390:D149Y|.	D|R	+|+	1|2	0|0	ATP6V1B2|ATP6V1B2	20112419|20112419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.978000|7.978000	0.88095|0.88095	2.791000|2.791000	0.96007|0.96007	0.637000|0.637000	0.83480|0.83480	GAC|AGA	ATP6V1B2	-	tigrfam_ATPase_V1-cplx_bsu	ENSG00000147416		0.443	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B2	HGNC	protein_coding	OTTHUMT00000253732.1	394	0.00	0	G	NM_001693		20068139	20068139	+1	no_errors	ENST00000276390	ensembl	human	known	69_37n	missense	214	26.21	76	SNP	1.000	T
ATP6V1B2	526	genome.wustl.edu	37	8	20077881	20077881	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:20077881G>A	ENST00000276390.2	+	14	1544	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	502					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CACCCTCAGCGAATTTTACCC	0.468																																					Pancreas(119;1230 1726 3901 4036 31644)	dbGAP											0													79.0	76.0	77.0					8																	20077881		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1504G>A	8.37:g.20077881G>A	ENSP00000276390:p.Glu502Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.E502K	ENST00000276390.2	37	c.1504	CCDS6014.1	8	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771031	0.49680	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.82803	-1.65	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	N	0.04787	-0.16	0.80722	D	1	B	0.06786	0.001	B	0.18263	0.021	T	0.63677	-0.6583	10	0.07030	T	0.85	-36.922	18.4056	0.90535	0.0:0.0:1.0:0.0	.	502	P21281	VATB2_HUMAN	K	502;376	ENSP00000276390:E502K	ENSP00000276390:E502K	E	+	1	0	ATP6V1B2	20122161	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.699000	0.74613	2.759000	0.94783	0.563000	0.77884	GAA	ATP6V1B2	-	tigrfam_ATPase_V1-cplx_bsu	ENSG00000147416		0.468	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B2	HGNC	protein_coding	OTTHUMT00000253732.1	129	0.00	0	G	NM_001693		20077881	20077881	+1	no_errors	ENST00000276390	ensembl	human	known	69_37n	missense	61	26.19	22	SNP	1.000	A
ATP6V1C2	245973	genome.wustl.edu	37	2	10915117	10915117	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:10915117G>A	ENST00000272238.4	+	10	854	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.E249K	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	249					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CACTGTTCGTGAATTTTACTA	0.458																																					NSCLC(188;1042 2136 10807 16813 47705)	dbGAP											0													141.0	141.0	141.0					2																	10915117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.745G>A	2.37:g.10915117G>A	ENSP00000272238:p.Glu249Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96EL8	Missense_Mutation	SNP	pfam_ATPase_V1-cplx_csu	p.E249K	ENST00000272238.4	37	c.745	CCDS42653.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.731339	0.96856	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.51071	0.72;0.72	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.71710	0.3372	M	0.86651	2.83	0.80722	D	1	P;D	0.57571	0.917;0.98	P;P	0.59221	0.713;0.854	T	0.76567	-0.2912	10	0.87932	D	0	-1.6718	19.8333	0.96644	0.0:0.0:1.0:0.0	.	249;249	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	K	249	ENSP00000272238:E249K;ENSP00000371077:E249K	ENSP00000272238:E249K	E	+	1	0	ATP6V1C2	10832568	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	9.869000	0.99810	2.698000	0.92095	0.491000	0.48974	GAA	ATP6V1C2	-	pfam_ATPase_V1-cplx_csu	ENSG00000143882		0.458	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ATP6V1C2	HGNC	protein_coding	OTTHUMT00000323555.1	226	0.00	0	G	NM_144583		10915117	10915117	+1	no_errors	ENST00000272238	ensembl	human	known	69_37n	missense	122	18.54	28	SNP	1.000	A
ATP6V1D	51382	genome.wustl.edu	37	14	67810109	67810109	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:67810109C>T	ENST00000216442.7	-	7	1053	c.503G>A	c.(502-504)cGt>cAt	p.R168H	ATP6V1D_ENST00000555431.1_Missense_Mutation_p.R113H|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.R69H|ATP6V1D_ENST00000554236.1_Intron	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	168					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		GGCATTTACACGCCTGTTGGT	0.378																																						dbGAP											0													205.0	157.0	173.0					14																	67810109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"""ATPases / V-type"""	13527	protein-coding gene	gene with protein product		609398	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"""	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.503G>A	14.37:g.67810109C>T	ENSP00000216442:p.Arg168His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE33|Q9Y688	Missense_Mutation	SNP	pfam_V_ATPase_D,tigrfam_V_ATPase_D	p.R168H	ENST00000216442.7	37	c.503	CCDS9780.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.712962	0.96830	.	.	ENSG00000100554	ENST00000555474;ENST00000216442;ENST00000555431	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93293	0.6670	9	0.87932	D	0	-0.9937	19.9813	0.97326	0.0:1.0:0.0:0.0	.	168	Q9Y5K8	VATD_HUMAN	H	69;168;113	.	ENSP00000216442:R168H	R	-	2	0	ATP6V1D	66879862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.670000	0.83925	2.726000	0.93360	0.655000	0.94253	CGT	ATP6V1D	-	pfam_V_ATPase_D,tigrfam_V_ATPase_D	ENSG00000100554		0.378	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1D	HGNC	protein_coding	OTTHUMT00000412511.1	192	0.00	0	C	NM_015994		67810109	67810109	-1	no_errors	ENST00000216442	ensembl	human	known	69_37n	missense	124	18.95	29	SNP	1.000	T
ATP6V1H	51606	genome.wustl.edu	37	8	54684598	54684598	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:54684598C>A	ENST00000359530.2	-	10	1263	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.D334Y|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.D316Y|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.D294Y|ATP6V1H_ENST00000523899.1_5'Flank	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	334					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AATTTGATATCTTCGCTGATA	0.403																																						dbGAP											0													134.0	122.0	126.0					8																	54684598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1000G>T	8.37:g.54684598C>A	ENSP00000352522:p.Asp334Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	p.D334Y	ENST00000359530.2	37	c.1000	CCDS6153.1	8	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557995	0.86231	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83738	0.0202	9	0.62326	D	0.03	-28.4229	19.1196	0.93357	0.0:1.0:0.0:0.0	.	316;334	Q9UI12-2;Q9UI12	.;VATH_HUMAN	Y	316;294;334;334	.	ENSP00000347359:D316Y	D	-	1	0	ATP6V1H	54847151	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.581000	0.87130	0.609000	0.83330	GAT	ATP6V1H	-	pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	ENSG00000047249		0.403	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1	300	0.66	2	C	NM_015941		54684598	54684598	-1	no_errors	ENST00000359530	ensembl	human	known	69_37n	missense	240	10.78	29	SNP	1.000	A
ATP6V1H	51606	genome.wustl.edu	37	8	54742051	54742051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:54742051C>A	ENST00000359530.2	-	4	522	c.259G>T	c.(259-261)Gaa>Taa	p.E87*	ATP6V1H_ENST00000396774.2_Nonsense_Mutation_p.E87*|ATP6V1H_ENST00000355221.3_Nonsense_Mutation_p.E87*|ATP6V1H_ENST00000520188.1_Nonsense_Mutation_p.E47*	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	87					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACGGTCTGTTCTTTGCAGATA	0.299																																						dbGAP											0													137.0	130.0	132.0					8																	54742051		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.259G>T	8.37:g.54742051C>A	ENSP00000352522:p.Glu87*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Nonsense_Mutation	SNP	pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	p.E87*	ENST00000359530.2	37	c.259	CCDS6153.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.276073	0.97435	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774;ENST00000520070;ENST00000521275;ENST00000524234	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-26.9919	18.7224	0.91700	0.0:1.0:0.0:0.0	.	.	.	.	X	87;47;87;87;67;87;87	.	ENSP00000347359:E87X	E	-	1	0	ATP6V1H	54904604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.394000	0.73223	2.723000	0.93209	0.650000	0.86243	GAA	ATP6V1H	-	pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	ENSG00000047249		0.299	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1	840	0.00	0	C	NM_015941		54742051	54742051	-1	no_errors	ENST00000359530	ensembl	human	known	69_37n	nonsense	500	15.68	93	SNP	1.000	A
ATP7A	538	genome.wustl.edu	37	X	77245057	77245057	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:77245057G>T	ENST00000341514.6	+	4	1094	c.939G>T	c.(937-939)gaG>gaT	p.E313D	ATP7A_ENST00000343533.5_Missense_Mutation_p.E313D|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	313	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTTCTTTAGAGAATAGGTCTG	0.383																																						dbGAP											0													163.0	157.0	159.0					X																	77245057		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.939G>T	X.37:g.77245057G>T	ENSP00000345728:p.Glu313Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.E313D	ENST00000341514.6	37	c.939	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939693	0.52972	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.85773	-2.03;-2.03	5.41	4.54	0.55810	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.053838	0.64402	D	0.000001	D	0.90943	0.7153	M	0.73753	2.245	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.69142	0.957;0.962	D	0.91180	0.4975	10	0.51188	T	0.08	-20.1883	13.7989	0.63188	0.0771:0.0:0.9229:0.0	.	313;323	Q04656;Q59HD1	ATP7A_HUMAN;.	D	313;313;323	ENSP00000343026:E313D;ENSP00000345728:E313D	ENSP00000345728:E313D	E	+	3	2	ATP7A	77131713	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.165000	0.42396	2.288000	0.76882	0.590000	0.80494	GAG	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd	ENSG00000165240		0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	234	0.00	0	G	NM_000052		77245057	77245057	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	133	30.37	58	SNP	1.000	T
ATP8A1	10396	genome.wustl.edu	37	4	42588435	42588435	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:42588435C>A	ENST00000381668.5	-	9	884	c.653G>T	c.(652-654)aGa>aTa	p.R218I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R218I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	218					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ACACTCAATTCTGCCAGAAAT	0.348																																						dbGAP											0													122.0	116.0	118.0					4																	42588435		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.653G>T	4.37:g.42588435C>A	ENSP00000371084:p.Arg218Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.R218I	ENST00000381668.5	37	c.653	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099731	0.56183	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.76316	-1.01;-1.01	6.06	2.46	0.29980	ATPase, P-type, ATPase-associated domain (1);	0.174023	0.51477	D	0.000095	T	0.60248	0.2254	L	0.31578	0.945	0.80722	D	1	B;B;B	0.27882	0.192;0.025;0.012	B;B;B	0.24974	0.056;0.057;0.014	T	0.43475	-0.9389	10	0.23302	T	0.38	.	5.6286	0.17497	0.1262:0.6197:0.0:0.2541	.	218;218;218	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	I	218	ENSP00000371084:R218I;ENSP00000264449:R218I	ENSP00000264449:R218I	R	-	2	0	ATP8A1	42283192	1.000000	0.71417	0.989000	0.46669	0.887000	0.51463	1.799000	0.38824	0.153000	0.19213	0.655000	0.94253	AGA	ATP8A1	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000124406		0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	297	0.00	0	C	NM_006095		42588435	42588435	-1	no_errors	ENST00000381668	ensembl	human	known	69_37n	missense	181	12.98	27	SNP	1.000	A
ATP8B4	79895	genome.wustl.edu	37	15	50336860	50336860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:50336860C>T	ENST00000284509.6	-	5	372	c.231G>A	c.(229-231)tgG>tgA	p.W77*	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.W77*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	77						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)		TGGTGGTAAACCAGGTCAAGG	0.378																																						dbGAP											0													92.0	82.0	85.0					15																	50336860		2196	4295	6491	-	-	-	SO:0001587	stop_gained	0			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.231G>A	15.37:g.50336860C>T	ENSP00000284509:p.Trp77*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H727	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.W77*	ENST00000284509.6	37	c.231	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	38	6.669624	0.97751	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.2034	0.82103	0.0:1.0:0.0:0.0	.	.	.	.	X	77	.	ENSP00000284509:W77X	W	-	3	0	ATP8B4	48124152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.417000	0.82017	0.551000	0.68910	TGG	ATP8B4	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000104043		0.378	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	232	0.00	0	C	NM_024837		50336860	50336860	-1	no_errors	ENST00000284509	ensembl	human	known	69_37n	nonsense	166	23.85	52	SNP	1.000	T
ATP8B4	79895	genome.wustl.edu	37	15	50339641	50339641	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:50339641C>T	ENST00000284509.6	-	4	249	c.108G>A	c.(106-108)tcG>tcA	p.S36S	ATP8B4_ENST00000558959.1_5'Flank|ATP8B4_ENST00000559829.1_Silent_p.S36S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	36						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)	p.S36S(1)		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)		TATTATATTTCGATGTGTGGA	0.358																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											100.0	103.0	102.0					15																	50339641		2196	4295	6491	-	-	-	SO:0001819	synonymous_variant	0			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.108G>A	15.37:g.50339641C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H727	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S36	ENST00000284509.6	37	c.108	CCDS32238.1	15																																																																																			ATP8B4	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000104043		0.358	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	246	0.00	0	C	NM_024837		50339641	50339641	-1	no_errors	ENST00000284509	ensembl	human	known	69_37n	silent	166	23.15	50	SNP	0.999	T
ATPAF1	64756	genome.wustl.edu	37	1	47108915	47108915	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:47108915T>C	ENST00000371937.4	-	8	847	c.743A>G	c.(742-744)gAa>gGa	p.E248G	ATPAF1_ENST00000532925.1_Missense_Mutation_p.E160G|ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.E97G|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000576409.1_Missense_Mutation_p.E271G	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	248					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GCCCTTTTCTTCCTTAAGTTC	0.438																																					Melanoma(138;107 1777 21672 30337 52312)	dbGAP											0													81.0	70.0	74.0					1																	47108915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.743A>G	1.37:g.47108915T>C	ENSP00000361005:p.Glu248Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	pfam_ATP11	p.E271G	ENST00000371937.4	37	c.812		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.58|16.58	3.163121|3.163121	0.57476|0.57476	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925|ENST00000534216	T|.	0.51574|.	0.7|.	5.79|5.79	4.6|4.6	0.57074|0.57074	.|.	0.349611|.	0.36200|.	N|.	0.002731|.	T|T	0.70360|0.70360	0.3215|0.3215	M|M	0.68952|0.68952	2.095|2.095	0.42148|0.42148	D|D	0.991542|0.991542	P;P|.	0.50528|.	0.669;0.936|.	B;B|.	0.41764|.	0.192;0.366|.	T|T	0.71013|0.71013	-0.4715|-0.4715	10|5	0.56958|.	D|.	0.05|.	-5.9692|-5.9692	12.6512|12.6512	0.56761|0.56761	0.0:0.0:0.1378:0.8622|0.0:0.0:0.1378:0.8622	.|.	160;248|.	B7Z7I6;Q5TC12|.	.;ATPF1_HUMAN|.	G|E	248;52;97;160|103	ENSP00000361005:E248G|.	ENSP00000361005:E248G|.	E|K	-|-	2|1	0|0	ATPAF1|ATPAF1	46881502|46881502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.449000|5.449000	0.66619|0.66619	2.209000|2.209000	0.71365|0.71365	0.528000|0.528000	0.53228|0.53228	GAA|AAG	ATPAF1	-	pfam_ATP11	ENSG00000123472		0.438	ATPAF1-201	KNOWN	basic	protein_coding	ATPAF1	HGNC	protein_coding		159	0.00	0	T	NM_022745		47108915	47108915	-1	no_errors	ENST00000576409	ensembl	human	known	69_37n	missense	102	22.39	30	SNP	1.000	C
ATR	545	genome.wustl.edu	37	3	142178199	142178199	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142178199G>A	ENST00000350721.4	-	43	7340	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2407	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACACTGGCGAAGTTCTTTT	0.383								Other conserved DNA damage response genes																														dbGAP											0													61.0	59.0	60.0					3																	142178199		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7219C>T	3.37:g.142178199G>A	ENSP00000343741:p.Arg2407Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.R2407C	ENST00000350721.4	37	c.7219	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.583950|3.583950	0.65992|0.65992	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.76316|.	-1.01;-1.01|.	4.58|4.58	4.58|4.58	0.56647|0.56647	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75620|0.75620	0.3874|0.3874	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.66351|.	0.943|.	T|T	0.76838|0.76838	-0.2811|-0.2811	10|5	0.72032|.	D|.	0.01|.	-2.5085|-2.5085	17.7085|17.7085	0.88315|0.88315	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2407|.	Q13535|.	ATR_HUMAN|.	C|L	2407;2343|253	ENSP00000343741:R2407C;ENSP00000372581:R2343C|.	ENSP00000343741:R2407C|.	R|S	-|-	1|2	0|0	ATR|ATR	143660889|143660889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.777000|4.777000	0.62361|0.62361	2.265000|2.265000	0.75225|0.75225	0.491000|0.491000	0.48974|0.48974	CGC|TCG	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000175054		0.383	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	99	0.00	0	G	NM_001184		142178199	142178199	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	61	28.74	25	SNP	1.000	A
ATR	545	genome.wustl.edu	37	3	142242885	142242885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142242885G>A	ENST00000350721.4	-	22	4223	c.4102C>T	c.(4102-4104)Cga>Tga	p.R1368*	ATR_ENST00000383101.3_Nonsense_Mutation_p.R1304*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1368					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAATCTAATCGACCTGGATCT	0.423								Other conserved DNA damage response genes																														dbGAP											0													137.0	129.0	132.0					3																	142242885		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4102C>T	3.37:g.142242885G>A	ENSP00000343741:p.Arg1368*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.R1368*	ENST00000350721.4	37	c.4102	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.480037	0.99413	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	5.36	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8855	13.522	0.61574	0.0:0.0:0.6145:0.3855	.	.	.	.	X	1368;1304	.	ENSP00000343741:R1368X	R	-	1	2	ATR	143725575	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.931000	0.56529	1.344000	0.45657	0.655000	0.94253	CGA	ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.423	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	300	0.00	0	G	NM_001184		142242885	142242885	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	nonsense	241	13.93	39	SNP	1.000	A
ATR	545	genome.wustl.edu	37	3	142259779	142259779	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142259779C>T	ENST00000350721.4	-	18	3669	c.3548G>A	c.(3547-3549)cGa>cAa	p.R1183Q	ATR_ENST00000383101.3_Missense_Mutation_p.R1119Q	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1183					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATCCTTGAATCGAAGGCCAGT	0.378								Other conserved DNA damage response genes																														dbGAP											0													117.0	102.0	107.0					3																	142259779		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3548G>A	3.37:g.142259779C>T	ENSP00000343741:p.Arg1183Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.R1183Q	ENST00000350721.4	37	c.3548	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781429	0.70222	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.41400	1.0;1.0	4.97	4.08	0.47627	UME (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.069413	0.56097	D	0.000025	T	0.45196	0.1330	L	0.39633	1.23	0.54753	D	0.999988	D	0.55172	0.97	P	0.52031	0.688	T	0.26849	-1.0091	10	0.27785	T	0.31	-11.1246	15.4798	0.75517	0.0:0.8606:0.1394:0.0	.	1183	Q13535	ATR_HUMAN	Q	1183;1119	ENSP00000343741:R1183Q;ENSP00000372581:R1119Q	ENSP00000343741:R1183Q	R	-	2	0	ATR	143742469	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.715000	0.84713	1.163000	0.42636	0.650000	0.86243	CGA	ATR	-	pfam_UME,superfamily_ARM-type_fold,smart_UME	ENSG00000175054		0.378	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	364	0.00	0	C	NM_001184		142259779	142259779	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	262	26.61	95	SNP	1.000	T
ATRNL1	26033	genome.wustl.edu	37	10	117226686	117226686	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:117226686G>A	ENST00000355044.3	+	23	3546	c.3420G>A	c.(3418-3420)tcG>tcA	p.S1140S	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.S191S	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1140					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTGGTAGTCGAACAAAAATC	0.274																																						dbGAP											0													110.0	106.0	107.0					10																	117226686		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3420G>A	10.37:g.117226686G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.S1140	ENST00000355044.3	37	c.3420	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.274	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	229	0.00	0	G	XM_049349		117226686	117226686	+1	no_errors	ENST00000355044	ensembl	human	known	69_37n	silent	129	10.42	15	SNP	0.982	A
ATRNL1	26033	genome.wustl.edu	37	10	117228793	117228793	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:117228793C>T	ENST00000355044.3	+	24	3734	c.3608C>T	c.(3607-3609)aCa>aTa	p.T1203I	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Missense_Mutation_p.T254I	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1203					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTAACATTACATTCTATGTG	0.299																																						dbGAP											0													56.0	60.0	59.0					10																	117228793		2197	4279	6476	-	-	-	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3608C>T	10.37:g.117228793C>T	ENSP00000347152:p.Thr1203Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.T1203I	ENST00000355044.3	37	c.3608	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691011	0.88735	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.50001	0.76;0.76	5.73	5.73	0.89815	.	0.047034	0.85682	D	0.000000	T	0.71221	0.3314	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.991	T	0.73107	-0.4087	10	0.87932	D	0	-16.391	19.9112	0.97025	0.0:1.0:0.0:0.0	.	254;1203	B4DH41;Q5VV63	.;ATRN1_HUMAN	I	1203;254	ENSP00000347152:T1203I;ENSP00000409624:T254I	ENSP00000347152:T1203I	T	+	2	0	ATRNL1	117218783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.718000	0.92993	0.585000	0.79938	ACA	ATRNL1	-	NULL	ENSG00000107518		0.299	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	115	0.00	0	C	XM_049349		117228793	117228793	+1	no_errors	ENST00000355044	ensembl	human	known	69_37n	missense	74	16.85	15	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76855269	76855269	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:76855269A>G	ENST00000373344.5	-	24	5932	c.5718T>C	c.(5716-5718)agT>agC	p.S1906S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.S1868S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1906					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATTCATCCATACTGTCTTCAT	0.308			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											55.0	51.0	52.0					X																	76855269		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5718T>C	X.37:g.76855269A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1906	ENST00000373344.5	37	c.5718	CCDS14434.1	X																																																																																			ATRX	-	NULL	ENSG00000085224		0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	224	0.00	0	A	NM_000489		76855269	76855269	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	silent	179	11.33	23	SNP	1.000	G
ATRX	546	genome.wustl.edu	37	X	76891541	76891541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:76891541C>A	ENST00000373344.5	-	16	4778	c.4564G>T	c.(4564-4566)Gaa>Taa	p.E1522*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1484*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1522					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCTTCAATTTCTATCACCTAC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											76.0	67.0	70.0					X																	76891541		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4564G>T	X.37:g.76891541C>A	ENSP00000362441:p.Glu1522*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1522*	ENST00000373344.5	37	c.4564	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	48	14.037722	0.99776	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.33	5.33	0.75918	.	0.076490	0.52532	U	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-13.5556	18.127	0.89589	0.0:1.0:0.0:0.0	.	.	.	.	X	1522;1484	.	ENSP00000362441:E1522X	E	-	1	0	ATRX	76778197	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.463000	0.80869	2.217000	0.71921	0.513000	0.50165	GAA	ATRX	-	NULL	ENSG00000085224		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	225	0.00	0	C	NM_000489		76891541	76891541	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	nonsense	175	22.22	50	SNP	1.000	A
ATRX	546	genome.wustl.edu	37	X	76937356	76937356	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:76937356C>A	ENST00000373344.5	-	9	3606	c.3392G>T	c.(3391-3393)aGa>aTa	p.R1131I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1093I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1131					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAATTCTATTCTTTTCAGTCT	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											74.0	77.0	76.0					X																	76937356		2203	4286	6489	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3392G>T	X.37:g.76937356C>A	ENSP00000362441:p.Arg1131Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1131I	ENST00000373344.5	37	c.3392	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897497	0.33535	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.95980	-3.87;-3.84	5.51	5.51	0.81932	.	0.141721	0.46758	D	0.000269	D	0.94512	0.8233	L	0.34521	1.04	0.80722	D	1	D;D;P;P	0.60575	0.963;0.988;0.731;0.771	P;P;B;B	0.58454	0.548;0.839;0.444;0.424	D	0.94160	0.7413	10	0.72032	D	0.01	-7.6194	8.7667	0.34706	0.0:0.8901:0.0:0.1099	.	1131;1063;1093;1131	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	I	1131;1093;1058	ENSP00000362441:R1131I;ENSP00000378967:R1093I	ENSP00000362441:R1131I	R	-	2	0	ATRX	76824012	0.307000	0.24500	0.862000	0.33874	0.906000	0.53458	0.308000	0.19314	2.296000	0.77279	0.513000	0.50165	AGA	ATRX	-	NULL	ENSG00000085224		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	75	0.00	0	C	NM_000489		76937356	76937356	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	0.980	A
ATRX	546	genome.wustl.edu	37	X	76937587	76937587	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:76937587G>A	ENST00000373344.5	-	9	3375	c.3161C>T	c.(3160-3162)tCt>tTt	p.S1054F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1016F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1054					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTCTTTTTAGAAGTTTTATC	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											78.0	88.0	84.0					X																	76937587		2203	4280	6483	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3161C>T	X.37:g.76937587G>A	ENSP00000362441:p.Ser1054Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1054F	ENST00000373344.5	37	c.3161	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	0.314	-0.965761	0.02249	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92348	-3.02;-3.02	5.56	3.73	0.42828	.	0.546215	0.19498	N	0.112810	D	0.85309	0.5667	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.20671	0.02;0.047;0.003;0.002	B;B;B;B	0.19946	0.027;0.021;0.007;0.005	T	0.76580	-0.2907	10	0.35671	T	0.21	-0.2691	7.8095	0.29221	0.0916:0.3123:0.5961:0.0	.	1054;986;1016;1054	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	F	1054;1016;981	ENSP00000362441:S1054F;ENSP00000378967:S1016F	ENSP00000362441:S1054F	S	-	2	0	ATRX	76824243	0.120000	0.22244	0.400000	0.26346	0.080000	0.17528	-0.001000	0.12947	0.477000	0.27464	0.513000	0.50165	TCT	ATRX	-	NULL	ENSG00000085224		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	109	0.00	0	G	NM_000489		76937587	76937587	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	0.918	A
ATRX	546	genome.wustl.edu	37	X	76938943	76938943	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:76938943C>T	ENST00000373344.5	-	9	2019	c.1805G>A	c.(1804-1806)gGt>gAt	p.G602D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.G564D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	602					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACAATCAGCACCTTTAATTGG	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											197.0	225.0	215.0					X																	76938943		2203	4296	6499	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1805G>A	X.37:g.76938943C>T	ENSP00000362441:p.Gly602Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G602D	ENST00000373344.5	37	c.1805	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481209	0.26598	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91894	-2.92;-2.93	5.22	4.34	0.51931	.	0.208971	0.41001	D	0.000969	D	0.92831	0.7720	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.64830	0.981;0.994;0.96;0.981	P;P;P;P	0.60117	0.69;0.869;0.59;0.69	D	0.93159	0.6556	10	0.59425	D	0.04	-12.3907	13.5009	0.61454	0.0:0.6298:0.3702:0.0	.	602;534;564;602	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	D	602;564;529	ENSP00000362441:G602D;ENSP00000378967:G564D	ENSP00000362441:G602D	G	-	2	0	ATRX	76825599	0.994000	0.37717	1.000000	0.80357	0.943000	0.58893	0.262000	0.18460	2.177000	0.69029	0.509000	0.49947	GGT	ATRX	-	NULL	ENSG00000085224		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	153	0.00	0	C	NM_000489		76938943	76938943	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	156	15.96	30	SNP	1.000	T
ATRX	546	genome.wustl.edu	37	X	76939514	76939514	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:76939514C>A	ENST00000373344.5	-	9	1448	c.1234G>T	c.(1234-1236)Gac>Tac	p.D412Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D374Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	412					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAATTTAAGTCTTCTTCCAAT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											184.0	186.0	186.0					X																	76939514		2203	4296	6499	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1234G>T	X.37:g.76939514C>A	ENSP00000362441:p.Asp412Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D412Y	ENST00000373344.5	37	c.1234	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	c	4.846	0.157284	0.09236	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92099	-2.96;-2.97	5.06	4.18	0.49190	.	0.141131	0.47852	D	0.000201	D	0.90841	0.7123	L	0.40543	1.245	0.80722	D	1	P;D;P;P	0.53885	0.828;0.963;0.892;0.828	B;P;P;B	0.53809	0.34;0.735;0.542;0.34	D	0.90529	0.4494	10	0.56958	D	0.05	-7.0403	9.687	0.40105	0.0:0.8339:0.0:0.1661	.	412;373;374;412	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Y	412;374;368	ENSP00000362441:D412Y;ENSP00000378967:D374Y	ENSP00000362441:D412Y	D	-	1	0	ATRX	76826170	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	2.305000	0.43664	2.093000	0.63338	0.509000	0.49947	GAC	ATRX	-	NULL	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	271	0.00	0	C	NM_000489		76939514	76939514	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	218	24.83	72	SNP	1.000	A
ATXN7L1	222255	genome.wustl.edu	37	7	105260694	105260694	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:105260694G>A	ENST00000419735.3	-	9	1515	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	ATXN7L1_ENST00000472910.1_5'UTR|ATXN7L1_ENST00000477775.1_Silent_p.F366F|ATXN7L1_ENST00000388807.4_Silent_p.F48F	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	490										endometrium(1)|large_intestine(4)|lung(5)	10						AGTTTAGTGCGAATCGAAAAC	0.408																																						dbGAP											0													164.0	126.0	138.0					7																	105260694		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1470C>T	7.37:g.105260694G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	pfam_SCA7_dom	p.F490	ENST00000419735.3	37	c.1470	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL	ENSG00000146776		0.408	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	176	0.00	0	G			105260694	105260694	-1	no_errors	ENST00000419735	ensembl	human	known	69_37n	silent	185	12.32	26	SNP	0.954	A
ATXN7L2	127002	genome.wustl.edu	37	1	110031015	110031015	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:110031015C>T	ENST00000369870.3	+	6	726	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	237	SCA7. {ECO:0000255|PROSITE- ProRule:PRU00838}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGAAGGAGTGCGACCTCAACA	0.537																																						dbGAP											0													117.0	88.0	98.0					1																	110031015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.711C>T	1.37:g.110031015C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SCA7_dom	p.C237	ENST00000369870.3	37	c.711	CCDS30794.1	1																																																																																			ATXN7L2	-	pfam_SCA7_dom	ENSG00000162650		0.537	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	186	0.00	0	C	NM_153340		110031015	110031015	+1	no_errors	ENST00000369870	ensembl	human	known	69_37n	silent	104	21.21	28	SNP	0.996	T
AVIL	10677	genome.wustl.edu	37	12	58200177	58200177	+	Missense_Mutation	SNP	C	C	T	rs549145073		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:58200177C>T	ENST00000257861.3	-	13	2067	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	TSFM_ENST00000548851.1_Intron|RP11-571M6.17_ENST00000602802.1_lincRNA|RNU6-1083P_ENST00000384022.1_RNA|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Missense_Mutation_p.R539Q	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	546	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGCCTGAGTTCGCAGCAGAAA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18311	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													137.0	115.0	123.0					12																	58200177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1637G>A	12.37:g.58200177C>T	ENSP00000257861:p.Arg546Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.R546Q	ENST00000257861.3	37	c.1637	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125538	0.37533	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.54071	0.59;0.59	5.16	1.06	0.20224	Gelsolin domain (1);	0.373706	0.29172	N	0.012929	T	0.20780	0.0500	N	0.01228	-0.945	0.19775	N	0.999952	B;B	0.10296	0.0;0.003	B;B	0.09377	0.002;0.004	T	0.22034	-1.0228	10	0.38643	T	0.18	-8.818	8.5658	0.33538	0.0:0.5748:0.0:0.4252	.	539;546	O75366-2;O75366	.;AVIL_HUMAN	Q	539;546	ENSP00000443207:R539Q;ENSP00000257861:R546Q	ENSP00000257861:R546Q	R	-	2	0	AVIL	56486444	0.000000	0.05858	0.088000	0.20740	0.834000	0.47266	-0.342000	0.07801	0.288000	0.22398	-0.367000	0.07326	CGA	AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000135407		0.547	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	210	0.00	0	C	NM_006576		58200177	58200177	-1	no_errors	ENST00000257861	ensembl	human	known	69_37n	missense	149	12.87	22	SNP	0.370	T
AVPI1	60370	genome.wustl.edu	37	10	99437779	99437779	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99437779G>T	ENST00000370626.3	-	3	858	c.291C>A	c.(289-291)atC>atA	p.I97I		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	97					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GGGGCTCCAGGATTCTGCAGA	0.488																																						dbGAP											0													73.0	71.0	72.0					10																	99437779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.291C>A	10.37:g.99437779G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G32|Q9H2R9|Q9HBN9	Silent	SNP	NULL	p.I97	ENST00000370626.3	37	c.291	CCDS7470.1	10																																																																																			AVPI1	-	NULL	ENSG00000119986		0.488	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPI1	HGNC	protein_coding	OTTHUMT00000049736.1	90	0.00	0	G	NM_021732		99437779	99437779	-1	no_errors	ENST00000370626	ensembl	human	known	69_37n	silent	87	13.00	13	SNP	0.000	T
AWAT2	158835	genome.wustl.edu	37	X	69263346	69263346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:69263346C>A	ENST00000276101.3	-	4	459	c.454G>T	c.(454-456)Gaa>Taa	p.E152*		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	152					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.E152*(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATTACATATTCTCTGAGGAAA	0.493																																					NSCLC(80;1334 1436 9350 24214 26427)	dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											36.0	32.0	33.0					X																	69263346		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.454G>T	X.37:g.69263346C>A	ENSP00000421172:p.Glu152*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE3|Q6P437	Nonsense_Mutation	SNP	pfam_DAGAT	p.E152*	ENST00000276101.3	37	c.454	CCDS35320.1	X	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908906	0.52439	.	.	ENSG00000147160	ENST00000276101	.	.	.	5.02	5.02	0.67125	.	0.593663	0.16144	N	0.227580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5334	0.67942	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000421172:E152X	E	-	1	0	AWAT2	69180071	1.000000	0.71417	0.408000	0.26446	0.031000	0.12232	5.401000	0.66326	2.307000	0.77673	0.513000	0.50165	GAA	AWAT2	-	pfam_DAGAT	ENSG00000147160		0.493	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	144	0.00	0	C	NM_001002254		69263346	69263346	-1	no_errors	ENST00000276101	ensembl	human	known	69_37n	nonsense	126	10.00	14	SNP	1.000	A
AXDND1	126859	genome.wustl.edu	37	1	179437776	179437776	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:179437776C>T	ENST00000367618.3	+	17	2384	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	AXDND1_ENST00000457238.2_3'UTR|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	666								p.S666L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATTCTGTTTCGTAAGTTCCC	0.308																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											81.0	83.0	82.0					1																	179437776		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1997+1C>T	1.37:g.179437776C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.S666L	ENST00000367618.3	37	c.1997	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079007	0.20227	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21932	1.98;1.98	4.42	-2.43	0.06522	.	1.820580	0.02310	N	0.071991	T	0.11367	0.0277	N	0.05510	-0.035	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.17289	-1.0374	10	0.29301	T	0.29	2.4503	8.4349	0.32780	0.0:0.4807:0.0:0.5193	.	624;666	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	L	666;624;600	ENSP00000356590:S666L;ENSP00000391716:S600L	ENSP00000353471:S624L	S	+	2	0	AXDND1	177704399	0.068000	0.21057	0.397000	0.26308	0.031000	0.12232	-0.686000	0.05161	-0.275000	0.09219	-0.290000	0.09829	TCG	AXDND1	-	NULL	ENSG00000162779		0.308	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	395	0.00	0	C	NM_144696	Missense_Mutation	179437776	179437776	+1	no_errors	ENST00000367618	ensembl	human	known	69_37n	missense	276	10.10	31	SNP	0.459	T
B3GNT5	84002	genome.wustl.edu	37	3	182988607	182988607	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:182988607G>T	ENST00000326505.3	+	2	1551	c.1021G>T	c.(1021-1023)Gta>Tta	p.V341L	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.V341L|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.V341L	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	341					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGATCCTAAAGTAAAAACCAT	0.348																																						dbGAP											0													48.0	47.0	48.0					3																	182988607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.1021G>T	3.37:g.182988607G>T	ENSP00000316173:p.Val341Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	pfam_Glyco_trans_31,superfamily_Luciferase-like_dom	p.V341L	ENST00000326505.3	37	c.1021	CCDS3244.1	3	.	.	.	.	.	.	.	.	.	.	G	4.315	0.057799	0.08339	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.36878	1.23;1.23;1.23	5.82	5.82	0.92795	.	0.000000	0.35970	U	0.002872	T	0.30916	0.0780	M	0.62723	1.935	0.48452	D	0.999659	P	0.42456	0.78	B	0.31016	0.123	T	0.38112	-0.9676	10	0.02654	T	1	.	20.0938	0.97831	0.0:0.0:1.0:0.0	.	341	Q9BYG0	B3GN5_HUMAN	L	341	ENSP00000316173:V341L;ENSP00000420778:V341L;ENSP00000417868:V341L	ENSP00000316173:V341L	V	+	1	0	B3GNT5	184471301	1.000000	0.71417	0.839000	0.33178	0.198000	0.23893	6.266000	0.72540	2.757000	0.94681	0.585000	0.79938	GTA	B3GNT5	-	NULL	ENSG00000176597		0.348	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT5	HGNC	protein_coding	OTTHUMT00000351009.1	80	0.00	0	G	NM_032047		182988607	182988607	+1	no_errors	ENST00000326505	ensembl	human	known	69_37n	missense	82	36.92	48	SNP	0.999	T
B4GALT3	8703	genome.wustl.edu	37	1	161145756	161145756	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161145756C>T	ENST00000319769.5	-	3	317	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	B4GALT3_ENST00000367998.1_Missense_Mutation_p.R32Q|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	32					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	ACTGAGACTTCGGAAGCCCCC	0.602																																						dbGAP											0													82.0	83.0	83.0					1																	161145756		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.95G>A	1.37:g.161145756C>T	ENSP00000320965:p.Arg32Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.R32Q	ENST00000319769.5	37	c.95	CCDS1222.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974238	0.74246	.	.	ENSG00000158850	ENST00000319769;ENST00000541560;ENST00000310413;ENST00000367998;ENST00000367997	T;T	0.52057	0.68;0.68	5.37	5.37	0.77165	.	0.073434	0.52532	D	0.000079	T	0.19287	0.0463	N	0.19112	0.55	0.43550	D	0.99585	B;B	0.31209	0.313;0.079	B;B	0.14578	0.011;0.007	T	0.03875	-1.0996	10	0.32370	T	0.25	-6.7801	17.888	0.88863	0.0:1.0:0.0:0.0	.	32;32	B3KPV4;O60512	.;B4GT3_HUMAN	Q	32	ENSP00000320965:R32Q;ENSP00000356977:R32Q	ENSP00000308551:R32Q	R	-	2	0	B4GALT3	159412380	0.997000	0.39634	0.998000	0.56505	0.973000	0.67179	3.428000	0.52792	2.511000	0.84671	0.467000	0.42956	CGA	B4GALT3	-	NULL	ENSG00000158850		0.602	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	206	0.00	0	C	NM_003779		161145756	161145756	-1	no_errors	ENST00000319769	ensembl	human	known	69_37n	missense	113	27.39	43	SNP	0.998	T
B4GALT5	9334	genome.wustl.edu	37	20	48330160	48330160	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:48330160G>T	ENST00000371711.4	-	1	255	c.68C>A	c.(67-69)tCt>tAt	p.S23Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	23					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GGACGAGAGAGAAAAGAAGAA	0.711																																						dbGAP											0													8.0	12.0	11.0					20																	48330160		2163	4263	6426	-	-	-	SO:0001583	missense	0			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.68C>A	20.37:g.48330160G>T	ENSP00000360776:p.Ser23Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.S23Y	ENST00000371711.4	37	c.68	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082092	0.36758	.	.	ENSG00000158470	ENST00000371711	T	0.42513	0.97	2.7	1.73	0.24493	.	0.231062	0.38164	U	0.001786	T	0.35480	0.0933	M	0.64404	1.975	0.51767	D	0.999937	B	0.27229	0.172	B	0.17979	0.02	T	0.18808	-1.0325	10	0.59425	D	0.04	0.9033	8.2631	0.31797	0.1294:0.0:0.8706:0.0	.	23	O43286	B4GT5_HUMAN	Y	23	ENSP00000360776:S23Y	ENSP00000360776:S23Y	S	-	2	0	B4GALT5	47763567	1.000000	0.71417	0.955000	0.39395	0.632000	0.37999	2.047000	0.41269	0.334000	0.23590	0.195000	0.17529	TCT	B4GALT5	-	NULL	ENSG00000158470		0.711	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3	27	0.00	0	G	NM_004776		48330160	48330160	-1	no_errors	ENST00000371711	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.996	T
B4GALT7	11285	genome.wustl.edu	37	5	177031436	177031436	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:177031436G>A	ENST00000029410.5	+	2	418	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	103	UDP-alpha-D-galactose binding.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTTCCGCGAACGCTTCGA	0.677																																						dbGAP											0													40.0	41.0	41.0					5																	177031436		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.307G>A	5.37:g.177031436G>A	ENSP00000029410:p.Glu103Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN39|Q9UHN2	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.E103K	ENST00000029410.5	37	c.307	CCDS4429.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.198982	0.94997	.	.	ENSG00000027847	ENST00000029410;ENST00000507061	T;T	0.33865	1.39;1.39	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	M	0.66506	2.035	0.80722	D	1	P	0.52061	0.95	P	0.48795	0.59	T	0.53872	-0.8377	10	0.72032	D	0.01	-22.4567	15.2131	0.73241	0.0:0.0:1.0:0.0	.	103	Q9UBV7	B4GT7_HUMAN	K	103;42	ENSP00000029410:E103K;ENSP00000423868:E42K	ENSP00000029410:E103K	E	+	1	0	B4GALT7	176964042	1.000000	0.71417	0.616000	0.29078	0.950000	0.60333	9.128000	0.94424	2.239000	0.73571	0.549000	0.68633	GAA	B4GALT7	-	pfam_Galactosyl_T_2_met	ENSG00000027847		0.677	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT7	HGNC	protein_coding	OTTHUMT00000253421.1	66	0.00	0	G	NM_007255		177031436	177031436	+1	no_errors	ENST00000029410	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	0.998	A
BAAT	570	genome.wustl.edu	37	9	104124756	104124756	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:104124756C>A	ENST00000395051.3	-	3	1281	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	BAAT_ENST00000259407.2_Missense_Mutation_p.R404I			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	404					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCTGAGAAATCTCTGGATCTC	0.483																																						dbGAP											0													111.0	106.0	108.0					9																	104124756		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1211G>T	9.37:g.104124756C>A	ENSP00000378491:p.Arg404Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.R404I	ENST00000395051.3	37	c.1211	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172570	0.57584	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.45668	0.89;0.89	4.86	2.34	0.29019	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.353602	0.27831	N	0.017676	T	0.24699	0.0599	N	0.12182	0.205	0.34470	D	0.70274	P	0.44877	0.845	P	0.44359	0.447	T	0.29243	-1.0018	10	0.48119	T	0.1	-15.7896	5.2847	0.15694	0.1563:0.0883:0.0:0.7554	.	404	Q14032	BAAT_HUMAN	I	404	ENSP00000259407:R404I;ENSP00000378491:R404I	ENSP00000259407:R404I	R	-	2	0	BAAT	103164577	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.803000	0.27083	0.330000	0.23485	-0.290000	0.09829	AGA	BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.483	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	353	0.00	0	C			104124756	104124756	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	missense	203	27.50	77	SNP	1.000	A
BAAT	570	genome.wustl.edu	37	9	104125295	104125295	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:104125295G>T	ENST00000395051.3	-	3	742	c.672C>A	c.(670-672)gtC>gtA	p.V224V	BAAT_ENST00000259407.2_Silent_p.V224V			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	224					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTGAGCCAAAGACCTGAAAAA	0.383																																						dbGAP											0													44.0	46.0	45.0					9																	104125295		2193	4299	6492	-	-	-	SO:0001819	synonymous_variant	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.672C>A	9.37:g.104125295G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Silent	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.V224	ENST00000395051.3	37	c.672	CCDS6752.1	9																																																																																			BAAT	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.383	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	104	0.00	0	G			104125295	104125295	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	silent	85	11.46	11	SNP	0.217	T
BAAT	570	genome.wustl.edu	37	9	104133260	104133260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:104133260G>A	ENST00000395051.3	-	1	497	c.427C>T	c.(427-429)Cga>Tga	p.R143*	BAAT_ENST00000259407.2_Nonsense_Mutation_p.R143*			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	143					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CGGCCTTCTCGAACCTTAATT	0.443																																						dbGAP											0													85.0	84.0	84.0					9																	104133260		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.427C>T	9.37:g.104133260G>A	ENSP00000378491:p.Arg143*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7W9|Q96L31	Nonsense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.R143*	ENST00000395051.3	37	c.427	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397942	0.62177	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	.	.	.	4.51	-0.315	0.12746	.	1.064430	0.07469	N	0.902022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1847	7.3655	0.26770	0.0993:0.0:0.222:0.6787	.	.	.	.	X	143	.	ENSP00000259407:R143X	R	-	1	2	BAAT	103173081	0.000000	0.05858	0.001000	0.08648	0.250000	0.25880	-0.051000	0.11885	0.080000	0.16959	0.655000	0.94253	CGA	BAAT	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000136881		0.443	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	HGNC	protein_coding	OTTHUMT00000053433.1	185	0.00	0	G			104133260	104133260	-1	no_errors	ENST00000259407	ensembl	human	known	69_37n	nonsense	88	25.21	30	SNP	0.001	A
BAI3	577	genome.wustl.edu	37	6	69703748	69703748	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:69703748G>T	ENST00000370598.1	+	11	2644	c.1823G>T	c.(1822-1824)aGa>aTa	p.R608I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	608					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTAACTCAGAGAAAAAATTTC	0.453																																						dbGAP											0													159.0	167.0	165.0					6																	69703748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1823G>T	6.37:g.69703748G>T	ENSP00000359630:p.Arg608Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R608I	ENST00000370598.1	37	c.1823	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837964	0.91117	.	.	ENSG00000135298	ENST00000370598	T	0.11495	2.77	6.05	6.05	0.98169	Domain of unknown function DUF3497 (1);	0.104309	0.64402	D	0.000005	T	0.23370	0.0565	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.00141	-1.1999	10	0.52906	T	0.07	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	608	O60242	BAI3_HUMAN	I	608	ENSP00000359630:R608I	ENSP00000359630:R608I	R	+	2	0	BAI3	69760469	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.534000	0.67167	2.878000	0.98634	0.650000	0.86243	AGA	BAI3	-	pfam_DUF3497	ENSG00000135298		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	459	0.22	1	G			69703748	69703748	+1	no_errors	ENST00000370598	ensembl	human	known	69_37n	missense	244	12.86	36	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	69703796	69703796	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:69703796G>T	ENST00000370598.1	+	11	2692	c.1871G>T	c.(1870-1872)aGa>aTa	p.R624I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	624					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGATCCTGAGAAATGTGACA	0.453																																						dbGAP											0													124.0	124.0	124.0					6																	69703796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1871G>T	6.37:g.69703796G>T	ENSP00000359630:p.Arg624Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R624I	ENST00000370598.1	37	c.1871	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368080	0.82463	.	.	ENSG00000135298	ENST00000370598	T	0.10099	2.91	6.05	5.16	0.70880	Domain of unknown function DUF3497 (1);	0.256502	0.37136	N	0.002235	T	0.22859	0.0552	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01757	-1.1280	10	0.56958	D	0.05	.	16.5115	0.84287	0.0:0.0:0.8681:0.1319	.	624	O60242	BAI3_HUMAN	I	624	ENSP00000359630:R624I	ENSP00000359630:R624I	R	+	2	0	BAI3	69760517	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.032000	0.88838	1.527000	0.49086	0.650000	0.86243	AGA	BAI3	-	pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000135298		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	391	0.00	0	G			69703796	69703796	+1	no_errors	ENST00000370598	ensembl	human	known	69_37n	missense	206	14.88	36	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	69949018	69949018	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:69949018A>G	ENST00000370598.1	+	20	3535	c.2714A>G	c.(2713-2715)tAc>tGc	p.Y905C	BAI3_ENST00000238918.8_Missense_Mutation_p.Y111C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	905					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGGCTAGGTACATACGCTCT	0.363																																						dbGAP											0													172.0	168.0	169.0					6																	69949018		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2714A>G	6.37:g.69949018A>G	ENSP00000359630:p.Tyr905Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.Y905C	ENST00000370598.1	37	c.2714	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566224	0.65651	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.37584	1.19;1.19	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.983	T	0.30851	-0.9964	10	0.39692	T	0.17	.	15.1789	0.72938	1.0:0.0:0.0:0.0	.	111;905;905	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	905;111	ENSP00000359630:Y905C;ENSP00000238918:Y111C	ENSP00000238918:Y111C	Y	+	2	0	BAI3	70005739	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.306000	0.78905	1.983000	0.57843	0.533000	0.62120	TAC	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000135298		0.363	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	227	0.00	0	A			69949018	69949018	+1	no_errors	ENST00000370598	ensembl	human	known	69_37n	missense	165	13.54	26	SNP	1.000	G
BANK1	55024	genome.wustl.edu	37	4	102839149	102839149	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:102839149G>T	ENST00000322953.4	+	7	1283		c.e7-1		BANK1_ENST00000504592.1_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000428908.1_Splice_Site|BANK1_ENST00000444316.2_Splice_Site	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1						B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TATGCTTACAGATACTCATTT	0.358																																						dbGAP											0													85.0	83.0	84.0					4																	102839149		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1010-1G>T	4.37:g.102839149G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Splice_Site	SNP	-	e7-1	ENST00000322953.4	37	c.1010-1	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	G	7.497	0.651946	0.14516	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9399	0.58337	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BANK1	103058172	1.000000	0.71417	0.389000	0.26208	0.034000	0.12701	6.061000	0.71148	2.409000	0.81822	0.655000	0.94253	.	BANK1	-	-	ENSG00000153064		0.358	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	145	0.00	0	G	NM_017935	Intron	102839149	102839149	+1	no_errors	ENST00000322953	ensembl	human	known	69_37n	splice_site	85	10.53	10	SNP	0.848	T
BASP1	10409	genome.wustl.edu	37	5	17275436	17275436	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:17275436G>A	ENST00000322611.3	+	2	371	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	37					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGGGGACCCCGAAGGAGAGTG	0.647																																						dbGAP											0													25.0	32.0	29.0					5																	17275436		2197	4287	6484	-	-	-	SO:0001819	synonymous_variant	0			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.111G>A	5.37:g.17275436G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Silent	SNP	pfam_BASP1	p.P37	ENST00000322611.3	37	c.111	CCDS3888.1	5																																																																																			BASP1	-	pfam_BASP1	ENSG00000176788		0.647	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BASP1	HGNC	protein_coding	OTTHUMT00000253716.2	168	0.00	0	G			17275436	17275436	+1	no_errors	ENST00000322611	ensembl	human	known	69_37n	silent	65	13.33	10	SNP	0.706	A
BATF3	55509	genome.wustl.edu	37	1	212870346	212870346	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:212870346C>A	ENST00000243440.1	-	2	374	c.152G>T	c.(151-153)aGa>aTa	p.R51I	BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3	51	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		CTTCCGACTTCTCTGAGCAGC	0.572																																						dbGAP											0													207.0	171.0	183.0					1																	212870346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"""basic leucine zipper proteins"""	28915	protein-coding gene	gene with protein product	"""Jun dimerization protein 1"""	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.152G>T	1.37:g.212870346C>A	ENSP00000243440:p.Arg51Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,prints_Leuzip_Fos,pfscan_bZIP	p.R51I	ENST00000243440.1	37	c.152	CCDS1508.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483472	0.84854	.	.	ENSG00000123685	ENST00000243440	T	0.61742	0.08	5.09	5.09	0.68999	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.93420	3.415	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.87626	0.2513	10	0.87932	D	0	-1.1071	18.1133	0.89542	0.0:1.0:0.0:0.0	.	51	Q9NR55	BATF3_HUMAN	I	51	ENSP00000243440:R51I	ENSP00000243440:R51I	R	-	2	0	BATF3	210936969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.273000	0.51623	2.356000	0.79943	0.555000	0.69702	AGA	BATF3	-	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,prints_Leuzip_Fos,pfscan_bZIP	ENSG00000123685		0.572	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF3	HGNC	protein_coding	OTTHUMT00000089403.1	481	0.00	0	C	NM_018664		212870346	212870346	-1	no_errors	ENST00000243440	ensembl	human	known	69_37n	missense	281	22.38	81	SNP	1.000	A
BAZ1B	9031	genome.wustl.edu	37	7	72873871	72873871	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72873871C>A	ENST00000339594.4	-	13	3765	c.3427G>T	c.(3427-3429)Gca>Tca	p.A1143S	BAZ1B_ENST00000404251.1_Missense_Mutation_p.A1143S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1143					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AATACCTTTGCTTCCTCTACC	0.368																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													182.0	172.0	176.0					7																	72873871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3427G>T	7.37:g.72873871C>A	ENSP00000342434:p.Ala1143Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A1143S	ENST00000339594.4	37	c.3427	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318695	0.81469	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.29655	1.56;1.56	5.59	5.59	0.84812	.	0.047932	0.85682	D	0.000000	T	0.21962	0.0529	L	0.29908	0.895	0.53688	D	0.999979	P	0.36144	0.539	B	0.31191	0.125	T	0.04678	-1.0934	10	0.10636	T	0.68	-14.4333	18.5789	0.91164	0.0:1.0:0.0:0.0	.	1143	Q9UIG0	BAZ1B_HUMAN	S	1143	ENSP00000342434:A1143S;ENSP00000385442:A1143S	ENSP00000342434:A1143S	A	-	1	0	BAZ1B	72511807	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.266000	0.78452	2.625000	0.88918	0.650000	0.86243	GCA	BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.368	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	607	0.00	0	C	NM_032408		72873871	72873871	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	459	10.70	55	SNP	1.000	A
BAZ1B	9031	genome.wustl.edu	37	7	72873879	72873879	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72873879A>G	ENST00000339594.4	-	13	3757	c.3419T>C	c.(3418-3420)gTa>gCa	p.V1140A	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1140A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1140					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCTTCCTCTACCATTTTCTT	0.353																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													193.0	183.0	186.0					7																	72873879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3419T>C	7.37:g.72873879A>G	ENSP00000342434:p.Val1140Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.V1140A	ENST00000339594.4	37	c.3419	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	A	4.069	0.010541	0.07912	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.28069	1.63;1.63	5.59	3.14	0.36123	.	0.097322	0.64402	N	0.000001	T	0.08714	0.0216	N	0.01352	-0.895	0.34150	D	0.667394	B	0.02656	0.0	B	0.01281	0.0	T	0.30995	-0.9959	10	0.06099	T	0.92	-3.2329	8.6863	0.34240	0.2368:0.0:0.7632:0.0	.	1140	Q9UIG0	BAZ1B_HUMAN	A	1140	ENSP00000342434:V1140A;ENSP00000385442:V1140A	ENSP00000342434:V1140A	V	-	2	0	BAZ1B	72511815	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.135000	0.71696	0.337000	0.23665	-0.417000	0.06048	GTA	BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.353	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	644	0.31	2	A	NM_032408		72873879	72873879	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	402	31.06	182	SNP	1.000	G
BAZ1B	9031	genome.wustl.edu	37	7	72891324	72891324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72891324C>A	ENST00000339594.4	-	7	2805	c.2467G>T	c.(2467-2469)Gaa>Taa	p.E823*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.E823*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	823				E -> R (in Ref. 3; BAA89210). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCACAATTTCTTTTTTCCTA	0.388																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													167.0	157.0	161.0					7																	72891324		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2467G>T	7.37:g.72891324C>A	ENSP00000342434:p.Glu823*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Nonsense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E823*	ENST00000339594.4	37	c.2467	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.560900	0.98863	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	.	.	.	5.7	4.82	0.62117	.	0.153283	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-15.7569	9.139	0.36892	0.0:0.7753:0.1466:0.0781	.	.	.	.	X	823	.	ENSP00000342434:E823X	E	-	1	0	BAZ1B	72529260	1.000000	0.71417	0.942000	0.38095	0.850000	0.48378	7.328000	0.79160	1.430000	0.47334	0.491000	0.48974	GAA	BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.388	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	339	0.00	0	C	NM_032408		72891324	72891324	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	nonsense	283	10.44	33	SNP	0.995	A
BAZ1B	9031	genome.wustl.edu	37	7	72892235	72892235	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72892235C>T	ENST00000339594.4	-	7	1894	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R519Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	519	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AACAAGACTTCGCAATTCTTC	0.443																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													109.0	113.0	112.0					7																	72892235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1556G>A	7.37:g.72892235C>T	ENSP00000342434:p.Arg519Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R519Q	ENST00000339594.4	37	c.1556	CCDS5549.1	7	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285512	0.40394	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.59502	0.26;0.26	5.51	5.51	0.81932	.	0.113149	0.64402	D	0.000011	T	0.37461	0.1004	N	0.14661	0.345	0.33877	D	0.635631	B	0.25312	0.123	B	0.13407	0.009	T	0.47674	-0.9099	10	0.23891	T	0.37	-12.4588	11.8241	0.52256	0.0:0.9203:0.0:0.0797	.	519	Q9UIG0	BAZ1B_HUMAN	Q	519	ENSP00000342434:R519Q;ENSP00000385442:R519Q	ENSP00000342434:R519Q	R	-	2	0	BAZ1B	72530171	0.986000	0.35501	0.295000	0.24960	0.996000	0.88848	3.458000	0.53014	2.593000	0.87608	0.655000	0.94253	CGA	BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.443	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	262	0.00	0	C	NM_032408		72892235	72892235	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	missense	164	14.95	29	SNP	0.912	T
BAZ1B	9031	genome.wustl.edu	37	7	72892480	72892480	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72892480C>T	ENST00000339594.4	-	7	1649	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	BAZ1B_ENST00000404251.1_Silent_p.Q437Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	437	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAAAGTCATCTGCTTCATTT	0.463																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													137.0	119.0	125.0					7																	72892480		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1311G>A	7.37:g.72892480C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q437	ENST00000339594.4	37	c.1311	CCDS5549.1	7																																																																																			BAZ1B	-	NULL	ENSG00000009954		0.463	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	267	0.00	0	C	NM_032408		72892480	72892480	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	silent	177	26.56	64	SNP	1.000	T
BAZ2A	11176	genome.wustl.edu	37	12	57009156	57009156	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57009156G>T	ENST00000551812.1	-	3	571	c.378C>A	c.(376-378)atC>atA	p.I126I	BAZ2A_ENST00000549884.1_Silent_p.I124I|BAZ2A_ENST00000379441.3_Silent_p.I126I|BAZ2A_ENST00000179765.5_Silent_p.I124I	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	126					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGCCCCCAAGGATGCCGTTGA	0.592																																						dbGAP											0													102.0	100.0	101.0					12																	57009156		1940	4130	6070	-	-	-	SO:0001819	synonymous_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.378C>A	12.37:g.57009156G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I126	ENST00000551812.1	37	c.378	CCDS44924.1	12																																																																																			BAZ2A	-	NULL	ENSG00000076108		0.592	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	240	0.41	1	G	NM_013449		57009156	57009156	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	silent	202	11.40	26	SNP	0.998	T
BAZ2B	29994	genome.wustl.edu	37	2	160261563	160261563	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:160261563G>A	ENST00000392783.2	-	15	3235	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R878W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R814W|AC008277.1_ENST00000594921.1_RNA|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R880W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	914	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTAGCAACCCGAGCCTGTTCC	0.343																																						dbGAP											0													163.0	141.0	148.0					2																	160261563		1805	4089	5894	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2740C>T	2.37:g.160261563G>A	ENSP00000376534:p.Arg914Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R914W	ENST00000392783.2	37	c.2740	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	35	5.525714	0.96431	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;D	0.86627	1.54;1.54;1.54;-2.15	5.81	5.81	0.92471	.	0.000000	0.32640	U	0.005839	D	0.91365	0.7276	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.985;0.993;0.987;0.983	D	0.91720	0.5388	10	0.87932	D	0	-9.2475	20.0714	0.97726	0.0:0.0:1.0:0.0	.	718;814;878;914	Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	W	878;914;880;814	ENSP00000376533:R878W;ENSP00000376534:R914W;ENSP00000348087:R880W;ENSP00000339670:R814W	ENSP00000339670:R814W	R	-	1	2	BAZ2B	159969809	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.773000	0.85462	2.750000	0.94351	0.585000	0.79938	CGG	BAZ2B	-	NULL	ENSG00000123636		0.343	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	372	0.53	2	G			160261563	160261563	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	185	21.10	50	SNP	1.000	A
BAZ2B	29994	genome.wustl.edu	37	2	160304846	160304846	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:160304846G>A	ENST00000392783.2	-	5	904	c.409C>T	c.(409-411)Cca>Tca	p.P137S	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P135S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P135S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P137S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AATAGTGGTGGAATTCCCAGT	0.448																																						dbGAP											0													133.0	134.0	134.0					2																	160304846		1948	4158	6106	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.409C>T	2.37:g.160304846G>A	ENSP00000376534:p.Pro137Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P137S	ENST00000392783.2	37	c.409	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256319	0.59321	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335;ENST00000437839	T;T;T;T;T	0.45668	2.82;2.82;2.82;2.82;0.89	5.68	5.68	0.88126	.	0.000000	0.32055	U	0.006654	T	0.47116	0.1428	L	0.38531	1.155	0.36226	D	0.85232	P;P;D;B;B;B	0.53462	0.607;0.513;0.96;0.033;0.033;0.02	B;B;P;B;B;B	0.54815	0.224;0.147;0.761;0.032;0.032;0.014	T	0.57289	-0.7837	10	0.87932	D	0	-9.133	12.6161	0.56578	0.1181:0.0:0.8819:0.0	.	135;74;137;135;135;137	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	S	135;137;137;135;74;137	ENSP00000376533:P135S;ENSP00000376534:P137S;ENSP00000348087:P137S;ENSP00000339670:P135S;ENSP00000415613:P137S	ENSP00000339670:P135S	P	-	1	0	BAZ2B	160013092	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.421000	0.66447	2.686000	0.91538	0.555000	0.69702	CCA	BAZ2B	-	NULL	ENSG00000123636		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	488	0.20	1	G			160304846	160304846	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	336	27.62	129	SNP	1.000	A
BBS10	79738	genome.wustl.edu	37	12	76740692	76740692	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:76740692G>A	ENST00000393262.3	-	2	1156	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	358					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTCACACTGCGAAAAGGCCTG	0.398									Bardet-Biedl syndrome																													dbGAP											0													77.0	67.0	71.0					12																	76740692		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1073C>T	12.37:g.76740692G>A	ENSP00000376946:p.Ser358Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.S358L	ENST00000393262.3	37	c.1073	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	G	6.395	0.441029	0.12164	.	.	ENSG00000179941	ENST00000393262	D	0.84660	-1.88	5.03	3.22	0.36961	.	0.335211	0.24856	N	0.035045	T	0.81044	0.4741	M	0.70595	2.14	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.69964	-0.5002	10	0.40728	T	0.16	-4.5069	6.2676	0.20936	0.3695:0.0:0.6305:0.0	.	358	Q8TAM1	BBS10_HUMAN	L	358	ENSP00000376946:S358L	ENSP00000376946:S358L	S	-	2	0	BBS10	75264823	0.002000	0.14202	0.027000	0.17364	0.883000	0.51084	0.743000	0.26231	0.843000	0.35070	0.650000	0.86243	TCG	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000179941		0.398	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	162	0.00	0	G	NM_024685		76740692	76740692	-1	no_errors	ENST00000393262	ensembl	human	known	69_37n	missense	119	11.85	16	SNP	0.002	A
BBS9	27241	genome.wustl.edu	37	7	33303927	33303927	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:33303927G>T	ENST00000242067.6	+	7	1164	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	BBS9_ENST00000396127.2_Missense_Mutation_p.D215Y|BBS9_ENST00000355070.2_Missense_Mutation_p.D215Y|BBS9_ENST00000350941.3_Missense_Mutation_p.D215Y|BBS9_ENST00000354265.4_Missense_Mutation_p.D215Y|BBS9_ENST00000425508.2_Missense_Mutation_p.D170Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	215					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTTGCAACAGATGCAGATAA	0.254									Bardet-Biedl syndrome																													dbGAP											0													40.0	45.0	43.0					7																	33303927		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.643G>T	7.37:g.33303927G>T	ENSP00000242067:p.Asp215Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.D215Y	ENST00000242067.6	37	c.643	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317106	0.81469	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.39	5.39	0.77823	.	0.053424	0.64402	D	0.000001	D	0.89904	0.6850	L	0.58669	1.825	0.58432	D	0.999995	D;D;D;D;D	0.89917	0.999;0.994;0.997;0.994;1.0	D;D;D;D;D	0.79108	0.965;0.935;0.976;0.935;0.992	D	0.90361	0.4373	10	0.66056	D	0.02	-17.5247	19.1392	0.93441	0.0:0.0:1.0:0.0	.	215;215;215;215;215	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	Y	215;215;215;215;215;215;215;170;93;93	ENSP00000242067:D215Y;ENSP00000313122:D215Y;ENSP00000379433:D215Y;ENSP00000347182:D215Y;ENSP00000346214:D215Y;ENSP00000405151:D170Y;ENSP00000388646:D93Y	ENSP00000242067:D215Y	D	+	1	0	BBS9	33270452	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.965000	0.87945	2.535000	0.85469	0.655000	0.94253	GAT	BBS9	-	NULL	ENSG00000122507		0.254	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	112	0.00	0	G			33303927	33303927	+1	no_errors	ENST00000242067	ensembl	human	known	69_37n	missense	67	21.18	18	SNP	1.000	T
BBS9	27241	genome.wustl.edu	37	7	33573622	33573622	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:33573622G>A	ENST00000242067.6	+	21	2876	c.2355G>A	c.(2353-2355)tcG>tcA	p.S785S	BBS9_ENST00000396127.2_Silent_p.S750S|BBS9_ENST00000350941.3_Silent_p.S745S|BBS9_ENST00000355070.2_Silent_p.S780S|BBS9_ENST00000354265.4_Silent_p.S750S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	785					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CTTGCCTGTCGAAGAGTTCTA	0.448									Bardet-Biedl syndrome																													dbGAP											0													156.0	144.0	148.0					7																	33573622		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2355G>A	7.37:g.33573622G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.E352K	ENST00000242067.6	37	c.1054	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	G	7.572	0.666873	0.14710	.	.	ENSG00000122507	ENST00000434373	.	.	.	5.75	-11.5	0.00074	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.48135	D	0.999598	.	.	.	.	.	.	T	0.53620	-0.8413	4	.	.	.	-4.7656	6.6536	0.22975	0.479:0.2446:0.2197:0.0567	.	.	.	.	K	352	.	.	E	+	1	0	BBS9	33540147	0.000000	0.05858	0.004000	0.12327	0.940000	0.58332	-2.959000	0.00673	-2.841000	0.00335	-0.768000	0.03414	GAA	BBS9	-	NULL	ENSG00000122507		0.448	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	257	0.00	0	G			33573622	33573622	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434373	ensembl	human	known	69_37n	missense	160	13.04	24	SNP	0.000	A
BCAS2	10286	genome.wustl.edu	37	1	115118301	115118301	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:115118301G>T	ENST00000369541.3	-	4	376	c.329C>A	c.(328-330)tCt>tAt	p.S110Y	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	110					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGGCCATAGAATTGTTTAC	0.368																																						dbGAP											0													140.0	130.0	134.0					1																	115118301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.329C>A	1.37:g.115118301G>T	ENSP00000358554:p.Ser110Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.S110Y	ENST00000369541.3	37	c.329	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870842	0.91587	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.81536	0.4843	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.82416	-0.0468	9	0.56958	D	0.05	-26.5911	19.5317	0.95231	0.0:0.0:1.0:0.0	.	110	O75934	SPF27_HUMAN	Y	110	.	ENSP00000358554:S110Y	S	-	2	0	BCAS2	114919824	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.189000	0.94928	2.701000	0.92244	0.644000	0.83932	TCT	BCAS2	-	pfam_BCAS2	ENSG00000116752		0.368	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	540	0.00	0	G	NM_005872		115118301	115118301	-1	no_errors	ENST00000369541	ensembl	human	known	69_37n	missense	281	28.50	112	SNP	1.000	T
BCAS3	54828	genome.wustl.edu	37	17	58885371	58885371	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:58885371A>G	ENST00000390652.5	+	7	441	c.410A>G	c.(409-411)cAa>cGa	p.Q137R	BCAS3_ENST00000407086.3_Missense_Mutation_p.Q137R|BCAS3_ENST00000588462.1_Missense_Mutation_p.Q137R|BCAS3_ENST00000589222.1_Missense_Mutation_p.Q137R|AC079005.1_ENST00000390181.1_RNA|BCAS3_ENST00000408905.3_Missense_Mutation_p.Q137R	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCAGGTGCTCAAAAATGTGAT	0.323																																						dbGAP											0													174.0	179.0	178.0					17																	58885371		1800	4063	5863	-	-	-	SO:0001583	missense	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.410A>G	17.37:g.58885371A>G	ENSP00000375067:p.Gln137Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.Q137R	ENST00000390652.5	37	c.410	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566552	0.45694	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.06294	3.32;3.32;3.32	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);	0.122626	0.56097	D	0.000031	T	0.05914	0.0154	L	0.36672	1.1	0.80722	D	1	P;B;B	0.35982	0.531;0.046;0.076	B;B;B	0.25987	0.065;0.029;0.065	T	0.42682	-0.9437	10	0.36615	T	0.2	.	14.2701	0.66147	1.0:0.0:0.0:0.0	.	137;137;137	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	R	137	ENSP00000375067:Q137R;ENSP00000385323:Q137R;ENSP00000386173:Q137R	ENSP00000375067:Q137R	Q	+	2	0	BCAS3	56240153	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.829000	0.55760	2.168000	0.68352	0.533000	0.62120	CAA	BCAS3	-	NULL	ENSG00000141376		0.323	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	232	0.00	0	A	NM_017679		58885371	58885371	+1	no_errors	ENST00000390652	ensembl	human	known	69_37n	missense	91	20.87	24	SNP	1.000	G
BCAS3	54828	genome.wustl.edu	37	17	59161889	59161889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:59161889C>T	ENST00000390652.5	+	23	2465	c.2434C>T	c.(2434-2436)Cga>Tga	p.R812*	BCAS3_ENST00000407086.3_Nonsense_Mutation_p.R797*|BCAS3_ENST00000585744.1_Nonsense_Mutation_p.R583*|BCAS3_ENST00000588874.1_Nonsense_Mutation_p.R568*|BCAS3_ENST00000588462.1_Nonsense_Mutation_p.R812*|BCAS3_ENST00000589222.1_Nonsense_Mutation_p.R797*|BCAS3_ENST00000408905.3_Nonsense_Mutation_p.R797*	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTCTCTGATCGAAGGGGAGT	0.463																																						dbGAP											0													68.0	70.0	69.0					17																	59161889		1959	4163	6122	-	-	-	SO:0001587	stop_gained	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2434C>T	17.37:g.59161889C>T	ENSP00000375067:p.Arg812*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.R812*	ENST00000390652.5	37	c.2434	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	40	7.926749	0.98565	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000408905	.	.	.	5.92	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5411	0.84385	0.1317:0.8683:0.0:0.0	.	.	.	.	X	812;797;797	.	ENSP00000375067:R812X	R	+	1	2	BCAS3	56516671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.542000	0.67218	1.496000	0.48567	0.655000	0.94253	CGA	BCAS3	-	NULL	ENSG00000141376		0.463	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	149	0.00	0	C	NM_017679		59161889	59161889	+1	no_errors	ENST00000390652	ensembl	human	known	69_37n	nonsense	80	23.58	25	SNP	1.000	T
BCHE	590	genome.wustl.edu	37	3	165547490	165547490	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:165547490G>T	ENST00000264381.3	-	2	1498	c.1332C>A	c.(1330-1332)gcC>gcA	p.A444A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	444					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AGTAGAAAAAGGCATTATTTC	0.428																																						dbGAP											0													101.0	105.0	104.0					3																	165547490		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1332C>A	3.37:g.165547490G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.A444	ENST00000264381.3	37	c.1332	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	211	0.00	0	G			165547490	165547490	-1	no_errors	ENST00000264381	ensembl	human	known	69_37n	silent	132	15.38	24	SNP	0.008	T
BCKDHB	594	genome.wustl.edu	37	6	80838892	80838892	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:80838892G>T	ENST00000320393.6	+	3	336	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.D97Y|BCKDHB_ENST00000545529.1_Missense_Mutation_p.D97Y|BCKDHB_ENST00000369760.4_Missense_Mutation_p.D97Y	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	97					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTTGGTGAAGATGTTGCCTT	0.264																																						dbGAP											0													121.0	125.0	123.0					6																	80838892		2202	4300	6502	-	-	-	SO:0001583	missense	0			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.289G>T	6.37:g.80838892G>T	ENSP00000318351:p.Asp97Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2J3|Q9BQL0	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.D97Y	ENST00000320393.6	37	c.289	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942482	0.73672	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	5.79	5.79	0.91817	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	H	0.99958	5.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98327	1.0531	10	0.87932	D	0	-21.647	15.5419	0.76057	0.0:0.0:1.0:0.0	.	97	P21953	ODBB_HUMAN	Y	97;97;97;97;27	ENSP00000358775:D97Y;ENSP00000318351:D97Y;ENSP00000348880:D97Y;ENSP00000443564:D97Y	ENSP00000318351:D97Y	D	+	1	0	BCKDHB	80895611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.611000	0.82962	2.737000	0.93849	0.643000	0.83706	GAT	BCKDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000083123		0.264	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	927	0.00	0	G	NM_000056		80838892	80838892	+1	no_errors	ENST00000320393	ensembl	human	known	69_37n	missense	529	13.84	85	SNP	1.000	T
BCL10	8915	genome.wustl.edu	37	1	85736371	85736371	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85736371C>A	ENST00000370580.1	-	2	1013	c.276G>T	c.(274-276)caG>caT	p.Q92H		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	92	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TCAGGAAGTTCTGTGTTTTTT	0.348			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	dbGAP		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													108.0	109.0	109.0					1																	85736371		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.276G>T	1.37:g.85736371C>A	ENSP00000359612:p.Gln92His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUF1	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.Q92H	ENST00000370580.1	37	c.276	CCDS704.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774794	0.70107	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.25749	1.78	5.99	5.99	0.97316	DEATH-like (2);Caspase Recruitment (1);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	L	0.53249	1.67	0.43263	D	0.9952	D	0.65815	0.995	D	0.70487	0.969	T	0.06935	-1.0799	10	0.72032	D	0.01	-14.6086	14.0585	0.64786	0.0:0.9231:0.0:0.0769	.	92	O95999	BCL10_HUMAN	H	92	ENSP00000359612:Q92H	ENSP00000271015:Q92H	Q	-	3	2	BCL10	85508959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.614000	0.46359	2.840000	0.97914	0.655000	0.94253	CAG	BCL10	-	pfam_CARD,superfamily_DEATH-like	ENSG00000142867		0.348	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1	356	0.00	0	C	NM_003921		85736371	85736371	-1	no_errors	ENST00000271015	ensembl	human	known	69_37n	missense	238	18.77	55	SNP	1.000	A
BCO2	83875	genome.wustl.edu	37	11	112064204	112064204	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:112064204C>A	ENST00000357685.5	+	3	436	c.301C>A	c.(301-303)Cat>Aat	p.H101N	BCO2_ENST00000526088.1_Missense_Mutation_p.H67N|AP002884.3_ENST00000532612.1_Missense_Mutation_p.H72N|BCO2_ENST00000393032.2_Missense_Mutation_p.H67N|SDHD_ENST00000532699.1_3'UTR|BCO2_ENST00000438022.1_Missense_Mutation_p.H67N|BCO2_ENST00000532593.1_5'UTR|BCO2_ENST00000531169.1_Missense_Mutation_p.H67N|BCO2_ENST00000361053.4_Missense_Mutation_p.H101N|SDHD_ENST00000525468.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	101					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AAGGTACAATCATTGGTTTGA	0.368																																					GBM(177;1916 2099 21049 29541 39946)	dbGAP											0													65.0	60.0	62.0					11																	112064204		2201	4297	6498	-	-	-	SO:0001583	missense	0			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.301C>A	11.37:g.112064204C>A	ENSP00000350314:p.His101Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Nonsense_Mutation	SNP	pfam_Carotenoid_Oase	p.S3*	ENST00000357685.5	37	c.8	CCDS8358.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.405562|4.405562	0.83230|0.83230	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000531169|ENST00000530677	D;D;D;D;D;D|.	0.97089|.	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.046065|.	0.85682|.	D|.	0.000000|.	D|.	0.87605|.	0.6219|.	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.986;0.996|.	D|.	0.90673|.	0.4599|.	10|.	0.87932|.	D|.	0|.	-18.1095|-18.1095	19.4558|19.4558	0.94889|0.94889	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	78;101;101|.	C9JEZ9;E9PBI8;Q9BYV7|.	.;.;BCDO2_HUMAN|.	N|X	101;67;101;67;67;67|3	ENSP00000350314:H101N;ENSP00000376752:H67N;ENSP00000354338:H101N;ENSP00000414843:H67N;ENSP00000436615:H67N;ENSP00000437053:H67N|.	ENSP00000350314:H101N|.	H|S	+|+	1|2	0|0	BCO2|BCO2	111569414|111569414	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.661000|0.661000	0.39034|0.39034	5.507000|5.507000	0.66999|0.66999	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	CAT|TCA	BCO2	-	pfam_Carotenoid_Oase	ENSG00000197580		0.368	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3	202	0.00	0	C	NM_001037290		112064204	112064204	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530677	ensembl	human	novel	69_37n	nonsense	163	13.30	25	SNP	1.000	A
BCO2	83875	genome.wustl.edu	37	11	112085592	112085592	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:112085592C>A	ENST00000357685.5	+	10	1575	c.1440C>A	c.(1438-1440)ttC>ttA	p.F480L	BCO2_ENST00000526088.1_Missense_Mutation_p.F446L|BCO2_ENST00000393032.2_Missense_Mutation_p.F446L|BCO2_ENST00000438022.1_Missense_Mutation_p.F446L|BCO2_ENST00000532593.1_Missense_Mutation_p.F375L|BCO2_ENST00000531169.1_Missense_Mutation_p.F446L|BCO2_ENST00000361053.4_Missense_Mutation_p.F407L			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	480					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						AGTATCATTTCTTTTATGGCT	0.403																																					GBM(177;1916 2099 21049 29541 39946)	dbGAP											0													201.0	192.0	195.0					11																	112085592		2201	4297	6498	-	-	-	SO:0001583	missense	0			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"""beta-carotene 9',10' oxygenase"", ""carotenoid-9',10'-cleaving dioxygenase"""	611740	"""beta-carotene dioxygenase 2"""	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.1440C>A	11.37:g.112085592C>A	ENSP00000350314:p.Phe480Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.F480L	ENST00000357685.5	37	c.1440	CCDS8358.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.47|18.47	3.631995|3.631995	0.67015|0.67015	.|.	.|.	ENSG00000197580|ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169|ENST00000530677	D;D;D;D;D;D;D|.	0.94931|.	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56|.	5.63|5.63	4.72|4.72	0.59763|0.59763	.|.	0.159869|.	0.56097|.	D|.	0.000023|.	T|T	0.75867|0.75867	0.3908|0.3908	M|M	0.81802|0.81802	2.56|2.56	0.42406|0.42406	D|D	0.99258|0.99258	B;P;B;B|.	0.41498|.	0.416;0.752;0.416;0.417|.	B;B;B;B|.	0.42163|.	0.292;0.366;0.378;0.213|.	T|T	0.78127|0.78127	-0.2325|-0.2325	10|5	0.87932|.	D|.	0|.	-33.3512|-33.3512	14.3169|14.3169	0.66457|0.66457	0.0:0.9284:0.0:0.0716|0.0:0.9284:0.0:0.0716	.|.	457;407;480;307|.	C9JEZ9;E9PBI8;Q9BYV7;Q8NAZ7|.	.;.;BCDO2_HUMAN;.|.	L|I	480;446;407;446;446;375;446|248	ENSP00000350314:F480L;ENSP00000376752:F446L;ENSP00000354338:F407L;ENSP00000414843:F446L;ENSP00000436615:F446L;ENSP00000431802:F375L;ENSP00000437053:F446L|.	ENSP00000350314:F480L|.	F|L	+|+	3|1	2|0	BCO2|BCO2	111590802|111590802	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.900000|0.900000	0.52787|0.52787	1.998000|1.998000	0.40796|0.40796	1.384000|1.384000	0.46424|0.46424	0.655000|0.655000	0.94253|0.94253	TTC|CTT	BCO2	-	pfam_Carotenoid_Oase	ENSG00000197580		0.403	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3	267	0.00	0	C	NM_001037290		112085592	112085592	+1	no_errors	ENST00000357685	ensembl	human	known	69_37n	missense	236	11.94	32	SNP	1.000	A
BCOR	54880	genome.wustl.edu	37	X	39911452	39911452	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:39911452C>A	ENST00000378444.4	-	15	5406	c.5178G>T	c.(5176-5178)ctG>ctT	p.L1726L	BCOR_ENST00000378455.4_Silent_p.L1674L|BCOR_ENST00000378463.1_Silent_p.L569L|BCOR_ENST00000397354.3_Silent_p.L1692L|BCOR_ENST00000342274.4_Silent_p.L1692L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1726	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAATTCCACCAGATCTAACA	0.502			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													62.0	50.0	54.0					X																	39911452		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5178G>T	X.37:g.39911452C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1726	ENST00000378444.4	37	c.5178	CCDS48093.1	X																																																																																			BCOR	-	NULL	ENSG00000183337		0.502	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	123	0.00	0	C	NM_017745		39911452	39911452	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	silent	103	16.80	21	SNP	1.000	A
BCOR	54880	genome.wustl.edu	37	X	39934252	39934252	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:39934252G>A	ENST00000378444.4	-	4	575	c.347C>T	c.(346-348)tCg>tTg	p.S116L	BCOR_ENST00000378455.4_Missense_Mutation_p.S116L|BCOR_ENST00000397354.3_Missense_Mutation_p.S116L|BCOR_ENST00000342274.4_Missense_Mutation_p.S116L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	116					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATTTCTTTCCGAAGAAAACCC	0.527			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													60.0	56.0	58.0					X																	39934252		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.347C>T	X.37:g.39934252G>A	ENSP00000367705:p.Ser116Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S116L	ENST00000378444.4	37	c.347	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	g	15.13	2.741439	0.49151	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.32	5.32	0.75619	.	.	.	.	.	T	0.44644	0.1303	N	0.14661	0.345	0.33854	D	0.632996	P;P;P;P	0.41450	0.75;0.75;0.635;0.75	B;B;B;B	0.30401	0.072;0.115;0.054;0.115	T	0.62445	-0.6853	9	0.59425	D	0.04	-9.9214	18.1447	0.89651	0.0:0.0:1.0:0.0	.	116;116;116;116	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	L	116	ENSP00000367716:S116L;ENSP00000380512:S116L;ENSP00000367705:S116L;ENSP00000345923:S116L;ENSP00000384485:S116L	ENSP00000345923:S116L	S	-	2	0	BCOR	39819196	1.000000	0.71417	0.877000	0.34402	0.963000	0.63663	6.870000	0.75526	2.221000	0.72209	0.525000	0.51046	TCG	BCOR	-	NULL	ENSG00000183337		0.527	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	97	0.00	0	G	NM_017745		39934252	39934252	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	84	13.27	13	SNP	0.984	A
BDKRB2	624	genome.wustl.edu	37	14	96707396	96707396	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:96707396C>T	ENST00000306005.3	+	3	927	c.731C>T	c.(730-732)aCg>aTg	p.T244M	BDKRB2_ENST00000554311.1_Missense_Mutation_p.T244M|BDKRB2_ENST00000539359.1_Missense_Mutation_p.T217M|BDKRB2_ENST00000542454.2_Missense_Mutation_p.T217M|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	244					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	ACCTTCTGCACGATGCAGATC	0.552																																						dbGAP											0													110.0	88.0	96.0					14																	96707396		2203	4300	6503	-	-	-	SO:0001583	missense	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.731C>T	14.37:g.96707396C>T	ENSP00000307713:p.Thr244Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_B2_bradkn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.T244M	ENST00000306005.3	37	c.731	CCDS9942.1	14	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758877	0.69763	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.109446	0.64402	D	0.000008	T	0.59018	0.2163	M	0.75264	2.295	0.47065	D	0.999308	D	0.89917	1.0	D	0.74023	0.982	T	0.63967	-0.6517	10	0.87932	D	0	-26.4925	13.7137	0.62682	0.0:0.8455:0.1545:0.0	.	244	P30411	BKRB2_HUMAN	M	217;244;244;217	ENSP00000439459:T217M;ENSP00000450482:T244M;ENSP00000307713:T244M;ENSP00000438376:T217M	ENSP00000307713:T244M	T	+	2	0	BDKRB2	95777149	1.000000	0.71417	0.947000	0.38551	0.863000	0.49368	4.737000	0.62066	2.254000	0.74563	0.561000	0.74099	ACG	BDKRB2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Brdyknn_rcpt	ENSG00000168398		0.552	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	66	0.00	0	C			96707396	96707396	+1	no_errors	ENST00000306005	ensembl	human	known	69_37n	missense	42	19.23	10	SNP	0.998	T
BDP1	55814	genome.wustl.edu	37	5	70759924	70759924	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:70759924G>A	ENST00000358731.4	+	4	902	c.639G>A	c.(637-639)tcG>tcA	p.S213S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	213	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S213S(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAAGCCATCGACTCCAGTCC	0.274																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											35.0	37.0	36.0					5																	70759924		1790	4067	5857	-	-	-	SO:0001819	synonymous_variant	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.639G>A	5.37:g.70759924G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.S213	ENST00000358731.4	37	c.639	CCDS43328.1	5																																																																																			BDP1	-	NULL	ENSG00000145734		0.274	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	171	0.00	0	G	NM_018429		70759924	70759924	+1	no_errors	ENST00000358731	ensembl	human	known	69_37n	silent	63	27.59	24	SNP	0.001	A
BEND2	139105	genome.wustl.edu	37	X	18194144	18194144	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:18194144G>T	ENST00000380033.4	-	11	1832	c.1700C>A	c.(1699-1701)tCt>tAt	p.S567Y	BEND2_ENST00000380030.3_Missense_Mutation_p.S476Y	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	567	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATTGATACCAGAAATACAGTC	0.363																																						dbGAP											0													89.0	77.0	81.0					X																	18194144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1700C>A	X.37:g.18194144G>T	ENSP00000369372:p.Ser567Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	pfam_BEN_domain	p.S567Y	ENST00000380033.4	37	c.1700	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183697	0.38609	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.46063	0.88;0.88	5.5	3.73	0.42828	BEN domain (2);	0.505981	0.17953	N	0.156436	T	0.47985	0.1475	L	0.36672	1.1	0.09310	N	1	D;D	0.69078	0.997;0.997	D;D	0.67900	0.944;0.954	T	0.32107	-0.9919	10	0.87932	D	0	-6.0807	5.7523	0.18154	0.1694:0.0:0.6756:0.155	.	476;567	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	Y	567;476	ENSP00000369372:S567Y;ENSP00000369369:S476Y	ENSP00000369369:S476Y	S	-	2	0	BEND2	18104065	0.977000	0.34250	0.000000	0.03702	0.003000	0.03518	2.729000	0.47327	0.508000	0.28173	-0.192000	0.12808	TCT	BEND2	-	pfam_BEN_domain	ENSG00000177324		0.363	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	238	0.00	0	G	NM_153346		18194144	18194144	-1	no_errors	ENST00000380033	ensembl	human	known	69_37n	missense	161	14.21	27	SNP	0.001	T
BEND5	79656	genome.wustl.edu	37	1	49193586	49193586	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:49193586C>T	ENST00000371833.3	-	6	1324	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	413						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TGCTTCCCTTCGTTCTTCATT	0.373																																						dbGAP											0													191.0	182.0	185.0					1																	49193586		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1238G>A	1.37:g.49193586C>T	ENSP00000360899:p.Arg413Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	pfam_BEN_domain	p.R413Q	ENST00000371833.3	37	c.1238	CCDS552.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.430857	0.96150	.	.	ENSG00000162373	ENST00000371833;ENST00000294347	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.62183	0.2407	N	0.14661	0.345	0.58432	D	0.999995	D	0.71674	0.998	D	0.79108	0.992	T	0.60581	-0.7235	8	.	.	.	-5.7459	19.1348	0.93422	0.0:1.0:0.0:0.0	.	413	Q7L4P6	BEND5_HUMAN	Q	413;125	.	.	R	-	2	0	BEND5	48966173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.779000	0.95612	0.591000	0.81541	CGA	BEND5	-	NULL	ENSG00000162373		0.373	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	484	0.00	0	C	NM_024603		49193586	49193586	-1	no_errors	ENST00000371833	ensembl	human	known	69_37n	missense	302	16.11	58	SNP	1.000	T
BFSP2	8419	genome.wustl.edu	37	3	133193873	133193873	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:133193873G>A	ENST00000302334.2	+	0	1394					NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin						cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCTGACCCAAGAAGTTGCTTG	0.478																																						dbGAP											0													100.0	79.0	85.0					3																	133193873		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.*57G>A	3.37:g.133193873G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D32|Q9HBW5	RNA	SNP	-	NULL	ENST00000302334.2	37	NULL	CCDS33859.1	3																																																																																			BFSP2	-	-	ENSG00000170819		0.478	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP2	HGNC	protein_coding	OTTHUMT00000357031.1	255	0.00	0	G			133193873	133193873	+1	no_errors	ENST00000510039	ensembl	human	known	69_37n	rna	123	25.45	42	SNP	0.000	A
BHLHB9	80823	genome.wustl.edu	37	X	102005078	102005078	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:102005078T>C	ENST00000372735.1	+	4	1740	c.1155T>C	c.(1153-1155)acT>acC	p.T385T	BHLHB9_ENST00000448867.1_Silent_p.T385T|BHLHB9_ENST00000457056.1_Silent_p.T385T|BHLHB9_ENST00000361229.4_Silent_p.T385T|BHLHB9_ENST00000447531.1_Silent_p.T385T			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	385					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAAAAAGACTGTAATTACTC	0.368																																						dbGAP											0													72.0	64.0	67.0					X																	102005078		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1155T>C	X.37:g.102005078T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0G2	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.T385	ENST00000372735.1	37	c.1155	CCDS14502.1	X																																																																																			BHLHB9	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000198908		0.368	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	208	0.00	0	T	NM_030639		102005078	102005078	+1	no_errors	ENST00000361229	ensembl	human	known	69_37n	silent	110	27.15	41	SNP	0.594	C
BHMT2	23743	genome.wustl.edu	37	5	78376542	78376542	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:78376542C>T	ENST00000255192.3	+	4	357	c.291C>T	c.(289-291)ctC>ctT	p.L97L	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	97	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)	p.L97L(1)		endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCTGTGACCTCGCCAGGGAAG	0.438																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											117.0	119.0	118.0					5																	78376542		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.291C>T	5.37:g.78376542C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z516|Q9NXX7	Silent	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.L97	ENST00000255192.3	37	c.291	CCDS4045.1	5																																																																																			BHMT2	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000132840		0.438	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT2	HGNC	protein_coding	OTTHUMT00000226962.2	586	0.00	0	C	NM_017614		78376542	78376542	+1	no_errors	ENST00000255192	ensembl	human	known	69_37n	silent	441	26.25	158	SNP	0.025	T
BICD1	636	genome.wustl.edu	37	12	32369267	32369267	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:32369267G>A	ENST00000281474.5	+	2	403	c.300G>A	c.(298-300)tcG>tcA	p.S100S	BICD1_ENST00000548411.1_Silent_p.S100S	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	100					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGTCAGCATCGAAGGAGGCTT	0.527																																						dbGAP											0													111.0	104.0	106.0					12																	32369267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.300G>A	12.37:g.32369267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2C3|F8W113|O43892|O43893	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like	p.S100	ENST00000281474.5	37	c.300	CCDS8726.1	12																																																																																			BICD1	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000151746		0.527	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	160	0.00	0	G	NM_001714		32369267	32369267	+1	no_errors	ENST00000281474	ensembl	human	known	69_37n	silent	140	11.39	18	SNP	0.000	A
BIRC2	329	genome.wustl.edu	37	11	102220963	102220963	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:102220963G>T	ENST00000227758.2	+	2	1777	c.378G>T	c.(376-378)aaG>aaT	p.K126N	BIRC2_ENST00000530675.1_Missense_Mutation_p.K77N|BIRC2_ENST00000532672.1_Missense_Mutation_p.K105N|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	126					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CCACCTCTAAGAATACGTCTC	0.418																																						dbGAP											0													112.0	116.0	114.0					11																	102220963		2203	4299	6502	-	-	-	SO:0001583	missense	0			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.378G>T	11.37:g.102220963G>T	ENSP00000227758:p.Lys126Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.K126N	ENST00000227758.2	37	c.378	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	G	7.311	0.615009	0.14129	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	5.48	3.49	0.39957	Baculoviral inhibition of apoptosis protein repeat (1);	0.275249	0.47852	D	0.000208	T	0.02533	0.0077	L	0.34521	1.04	0.28880	N	0.894468	B	0.26318	0.146	B	0.25987	0.065	T	0.34750	-0.9816	10	0.17369	T	0.5	-19.8175	1.8427	0.03153	0.1791:0.1581:0.4985:0.1643	.	126	Q13490	BIRC2_HUMAN	N	77;126;126;105;105	ENSP00000431723:K77N;ENSP00000227758:K126N;ENSP00000434979:K105N;ENSP00000434708:K105N	ENSP00000227758:K126N	K	+	3	2	BIRC2	101726173	0.642000	0.27260	0.973000	0.42090	0.746000	0.42486	1.086000	0.30853	1.562000	0.49601	0.650000	0.86243	AAG	BIRC2	-	NULL	ENSG00000110330		0.418	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	139	0.00	0	G	NM_001166		102220963	102220963	+1	no_errors	ENST00000227758	ensembl	human	known	69_37n	missense	55	13.85	9	SNP	0.566	T
BIRC2	329	genome.wustl.edu	37	11	102239269	102239269	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:102239269A>C	ENST00000227758.2	+	6	2755	c.1356A>C	c.(1354-1356)gaA>gaC	p.E452D	BIRC2_ENST00000530675.1_Missense_Mutation_p.E403D|BIRC2_ENST00000532672.1_Missense_Mutation_p.E431D|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	452					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAGCTGAAGAAATGGCATCAG	0.398																																						dbGAP											0													128.0	135.0	133.0					11																	102239269		2203	4299	6502	-	-	-	SO:0001583	missense	0			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1356A>C	11.37:g.102239269A>C	ENSP00000227758:p.Glu452Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.E452D	ENST00000227758.2	37	c.1356	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489772	0.44249	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.23754	1.91;2.9;1.89;1.9	5.43	4.08	0.47627	.	0.046056	0.85682	D	0.000000	T	0.30541	0.0768	M	0.80028	2.48	0.47905	D	0.999544	B	0.15473	0.013	B	0.24155	0.051	T	0.05954	-1.0854	10	0.27082	T	0.32	-17.4677	9.2395	0.37486	0.8895:0.0:0.1105:0.0	.	452	Q13490	BIRC2_HUMAN	D	403;114;452;452;431	ENSP00000431723:E403D;ENSP00000433851:E114D;ENSP00000227758:E452D;ENSP00000434979:E431D	ENSP00000227758:E452D	E	+	3	2	BIRC2	101744479	0.957000	0.32711	0.917000	0.36280	0.985000	0.73830	0.976000	0.29462	0.702000	0.31825	0.397000	0.26171	GAA	BIRC2	-	NULL	ENSG00000110330		0.398	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	508	0.00	0	A	NM_001166		102239269	102239269	+1	no_errors	ENST00000227758	ensembl	human	known	69_37n	missense	380	24.75	125	SNP	0.998	C
BIRC6	57448	genome.wustl.edu	37	2	32698261	32698261	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:32698261G>T	ENST00000421745.2	+	33	6808	c.6674G>T	c.(6673-6675)aGa>aTa	p.R2225I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2225					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCCTTGATAGATTATATTCC	0.308																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													39.0	37.0	38.0					2																	32698261		2195	4287	6482	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6674G>T	2.37:g.32698261G>T	ENSP00000393596:p.Arg2225Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.R2225I	ENST00000421745.2	37	c.6674	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703803	0.68501	.	.	ENSG00000115760	ENST00000421745	T	0.81330	-1.48	5.56	5.56	0.83823	.	0.147946	0.44483	D	0.000452	D	0.88669	0.6499	M	0.62723	1.935	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.89215	0.3567	10	0.87932	D	0	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	2225	Q9NR09	BIRC6_HUMAN	I	2225	ENSP00000393596:R2225I	ENSP00000393596:R2225I	R	+	2	0	BIRC6	32551765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.607000	0.88179	0.644000	0.83932	AGA	BIRC6	-	NULL	ENSG00000115760		0.308	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	147	0.00	0	G	NM_016252		32698261	32698261	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	156	15.22	28	SNP	1.000	T
BIRC6	57448	genome.wustl.edu	37	2	32832625	32832625	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:32832625G>A	ENST00000421745.2	+	72	14308	c.14174G>A	c.(14173-14175)cGa>cAa	p.R4725Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4725					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R4725Q(1)|p.R4697Q(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGAGTTCTCGAGAATATGAT	0.413																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											2	Substitution - Missense(2)	large_intestine(2)											161.0	159.0	160.0					2																	32832625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14174G>A	2.37:g.32832625G>A	ENSP00000393596:p.Arg4725Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.R4725Q	ENST00000421745.2	37	c.14174	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	33	5.201202	0.94997	.	.	ENSG00000115760	ENST00000421745	T	0.37235	1.21	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.130440	0.49305	D	0.000151	T	0.50120	0.1597	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.31420	-0.9944	10	0.25106	T	0.35	.	19.4363	0.94796	0.0:0.0:1.0:0.0	.	4725	Q9NR09	BIRC6_HUMAN	Q	4725	ENSP00000393596:R4725Q	ENSP00000393596:R4725Q	R	+	2	0	BIRC6	32686129	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.573000	0.86826	0.585000	0.79938	CGA	BIRC6	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000115760		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	522	0.19	1	G	NM_016252		32832625	32832625	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	422	14.23	70	SNP	1.000	A
BLNK	29760	genome.wustl.edu	37	10	97983634	97983634	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:97983634G>A	ENST00000224337.5	-	6	614	c.473C>T	c.(472-474)gCt>gTt	p.A158V	BLNK_ENST00000371176.2_Missense_Mutation_p.A158V|BLNK_ENST00000413476.2_Missense_Mutation_p.A158V|BLNK_ENST00000427367.2_Missense_Mutation_p.A158V	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	158	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTTCTGCAAAGCAGTCAGGGC	0.572																																						dbGAP											0													133.0	129.0	130.0					10																	97983634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.473C>T	10.37:g.97983634G>A	ENSP00000224337:p.Ala158Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.A158V	ENST00000224337.5	37	c.473	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813521	0.32053	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000428924	.	.	.	5.7	4.79	0.61399	.	1.065940	0.07040	N	0.830031	T	0.29850	0.0746	N	0.04959	-0.14	0.29695	N	0.840611	B;B;B;B;B	0.27971	0.161;0.161;0.196;0.047;0.124	B;B;B;B;B	0.35413	0.079;0.079;0.202;0.036;0.099	T	0.14420	-1.0473	9	0.39692	T	0.17	-3.5736	11.5941	0.50962	0.0837:0.0:0.9163:0.0	.	158;158;158;158;158	Q2MD54;Q2MD49;Q8WV28-2;Q2MD52;Q8WV28	.;.;.;.;BLNK_HUMAN	V	158	.	ENSP00000224337:A158V	A	-	2	0	BLNK	97973624	0.978000	0.34361	0.853000	0.33588	0.128000	0.20619	1.896000	0.39789	2.849000	0.98006	0.609000	0.83330	GCT	BLNK	-	NULL	ENSG00000095585		0.572	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	297	0.00	0	G	NM_013314		97983634	97983634	-1	no_errors	ENST00000224337	ensembl	human	known	69_37n	missense	203	26.09	72	SNP	0.837	A
BLVRA	644	genome.wustl.edu	37	7	43830886	43830886	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:43830886C>A	ENST00000402924.1	+	5	336	c.173C>A	c.(172-174)tCt>tAt	p.S58Y	BLVRA_ENST00000265523.4_Missense_Mutation_p.S58Y	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	58					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						CAGCAGATTTCTTTGGAGGAT	0.498																																						dbGAP											0													128.0	120.0	123.0					7																	43830886		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.173C>A	7.37:g.43830886C>A	ENSP00000385757:p.Ser58Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.S58Y	ENST00000402924.1	37	c.173	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827398	0.71143	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.27104	1.69;1.69;1.69	4.8	4.8	0.61643	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.519237	0.22806	N	0.055401	T	0.60011	0.2236	H	0.94385	3.53	0.40794	D	0.983284	D	0.76494	0.999	D	0.65684	0.937	T	0.72714	-0.4210	10	0.87932	D	0	.	13.7354	0.62815	0.0:1.0:0.0:0.0	.	58	P53004	BIEA_HUMAN	Y	58	ENSP00000265523:S58Y;ENSP00000385757:S58Y;ENSP00000412005:S58Y	ENSP00000265523:S58Y	S	+	2	0	BLVRA	43797411	0.932000	0.31603	1.000000	0.80357	0.985000	0.73830	1.873000	0.39558	2.367000	0.80283	0.563000	0.77884	TCT	BLVRA	-	pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	ENSG00000106605		0.498	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	126	0.00	0	C	NM_000712		43830886	43830886	+1	no_errors	ENST00000265523	ensembl	human	known	69_37n	missense	96	11.11	12	SNP	1.000	A
BMI1	648	genome.wustl.edu	37	10	22615839	22615839	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:22615839C>T	ENST00000376663.3	+	3	638	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.R188C	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	45					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTGTATTGTTCGTTACCTGGA	0.363																																						dbGAP											0													162.0	168.0	166.0					10																	22615839		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.133C>T	10.37:g.22615839C>T	ENSP00000365851:p.Arg45Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R45C	ENST00000376663.3	37	c.133	CCDS7138.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.195619	0.94960	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.67	5.67	0.87782	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.048157	0.85682	D	0.000000	D	0.93360	0.7883	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70016	0.94;0.967	D	0.93609	0.6937	10	0.87932	D	0	-8.088	19.3831	0.94545	0.0:1.0:0.0:0.0	.	45;45	Q5U0M5;P35226	.;BMI1_HUMAN	C	45;29;45;45;45;45;22	ENSP00000365851:R45C;ENSP00000397912:R45C;ENSP00000399220:R45C;ENSP00000390768:R22C	ENSP00000365851:R45C	R	+	1	0	BMI1	22655845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.880000	0.63107	2.689000	0.91719	0.650000	0.86243	CGT	BMI1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000168283		0.363	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1	157	0.63	1	C	NM_005180		22615839	22615839	+1	no_errors	ENST00000376663	ensembl	human	known	69_37n	missense	72	25.77	25	SNP	1.000	T
BMP5	653	genome.wustl.edu	37	6	55620352	55620352	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:55620352T>C	ENST00000370830.3	-	7	2042	c.1344A>G	c.(1342-1344)gtA>gtG	p.V448V	BMP5_ENST00000446683.2_Silent_p.V411V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	448					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACATGAGCGTACTACCATAT	0.328																																						dbGAP											0													55.0	58.0	57.0					6																	55620352		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1344A>G	6.37:g.55620352T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.V448	ENST00000370830.3	37	c.1344	CCDS4958.1	6																																																																																			BMP5	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000112175		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	120	0.00	0	T			55620352	55620352	-1	no_errors	ENST00000370830	ensembl	human	known	69_37n	silent	60	28.09	25	SNP	0.061	C
BMP5	653	genome.wustl.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:55638912C>T	ENST00000370830.3	-	4	1660	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R321Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R321Q(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											196.0	168.0	178.0					6																	55638912		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.962G>A	6.37:g.55638912C>T	ENSP00000359866:p.Arg321Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R321Q	ENST00000370830.3	37	c.962	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364119	0.41902	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72942	-0.7;-0.37	5.74	5.74	0.90152	.	0.052929	0.85682	D	0.000000	T	0.37489	0.1005	N	0.20986	0.625	0.36890	D	0.889858	B;B	0.26975	0.165;0.005	B;B	0.14578	0.011;0.011	T	0.32666	-0.9898	10	0.27082	T	0.32	.	10.3562	0.43964	0.0:0.855:0.0:0.145	.	321;321	B4E0Y4;P22003	.;BMP5_HUMAN	Q	321	ENSP00000359866:R321Q;ENSP00000391818:R321Q	ENSP00000359866:R321Q	R	-	2	0	BMP5	55746871	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	2.335000	0.43929	2.703000	0.92315	0.655000	0.94253	CGA	BMP5	-	NULL	ENSG00000112175		0.478	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	212	0.47	1	C			55638912	55638912	-1	no_errors	ENST00000370830	ensembl	human	known	69_37n	missense	142	22.40	41	SNP	1.000	T
BMP5	653	genome.wustl.edu	37	6	55739516	55739516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:55739516C>A	ENST00000370830.3	-	1	846	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.E50*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	50					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTATTTCCCGTCTTTCG	0.453																																						dbGAP											0													199.0	183.0	188.0					6																	55739516		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.148G>T	6.37:g.55739516C>A	ENSP00000359866:p.Glu50*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E50*	ENST00000370830.3	37	c.148	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	C	44	11.050843	0.99508	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.72	5.72	0.89469	.	0.148859	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.8674	0.96824	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000359866:E50X	E	-	1	0	BMP5	55847475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.690000	0.91761	0.655000	0.94253	GAA	BMP5	-	pfam_TGF-b_N	ENSG00000112175		0.453	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	594	0.00	0	C			55739516	55739516	-1	no_errors	ENST00000370830	ensembl	human	known	69_37n	nonsense	404	10.60	48	SNP	1.000	A
BMPER	168667	genome.wustl.edu	37	7	34091518	34091518	+	Missense_Mutation	SNP	G	G	A	rs200453593	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:34091518G>A	ENST00000297161.2	+	9	1096	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	BMPER_ENST00000426693.1_Missense_Mutation_p.R241Q|BMPER_ENST00000494786.1_3'UTR	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	241	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCCTCTTTCGAAGTGATGTT	0.473													G|||	3	0.000599042	0.0	0.0043	5008	,	,		22030	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													207.0	178.0	188.0					7																	34091518		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.722G>A	7.37:g.34091518G>A	ENSP00000297161:p.Arg241Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1P8|Q8TF36	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.R241Q	ENST00000297161.2	37	c.722	CCDS5442.1	7	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	17.16	3.317513	0.60524	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.64260	-0.09;-0.09	5.44	4.55	0.56014	von Willebrand factor, type C (1);	0.243100	0.45126	D	0.000385	T	0.37348	0.1000	L	0.47716	1.5	0.46901	D	0.999248	P	0.41784	0.762	B	0.33568	0.166	T	0.27434	-1.0074	10	0.14252	T	0.57	.	8.7091	0.34374	0.169:0.0:0.831:0.0	.	241	Q8N8U9	BMPER_HUMAN	Q	241	ENSP00000297161:R241Q;ENSP00000393950:R241Q	ENSP00000297161:R241Q	R	+	2	0	BMPER	34058043	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.069000	0.50026	2.715000	0.92844	0.655000	0.94253	CGA	BMPER	-	smart_VWF_C	ENSG00000164619		0.473	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	231	0.00	0	G	NM_133468		34091518	34091518	+1	no_errors	ENST00000297161	ensembl	human	known	69_37n	missense	186	15.07	33	SNP	1.000	A
BMPR1B	658	genome.wustl.edu	37	4	96075782	96075782	+	Missense_Mutation	SNP	A	A	C	rs146773802		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:96075782A>C	ENST00000515059.1	+	13	1750	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	BMPR1B_ENST00000264568.4_Missense_Mutation_p.K489N|BMPR1B_ENST00000394931.1_Missense_Mutation_p.K489N|BMPR1B_ENST00000440890.2_Missense_Mutation_p.K519N	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	489	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GGGTTAAGAAAACACTTGCCA	0.463																																						dbGAP											0													70.0	72.0	72.0					4																	96075782		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1467A>C	4.37:g.96075782A>C	ENSP00000426617:p.Lys489Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.K519N	ENST00000515059.1	37	c.1557	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299970	0.81136	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.93	-0.826	0.10805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73808	-0.3866	10	0.72032	D	0.01	.	10.7964	0.46464	0.5289:0.0:0.4711:0.0	.	489	O00238	BMR1B_HUMAN	N	489;489;489;519;489;489	ENSP00000426617:K489N;ENSP00000425444:K489N;ENSP00000421671:K489N;ENSP00000401907:K519N;ENSP00000264568:K489N;ENSP00000378389:K489N	ENSP00000264568:K489N	K	+	3	2	BMPR1B	96294805	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	0.644000	0.24766	-0.118000	0.11851	0.482000	0.46254	AAA	BMPR1B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000138696		0.463	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	143	0.00	0	A	NM_001203		96075782	96075782	+1	no_errors	ENST00000440890	ensembl	human	known	69_37n	missense	113	15.56	21	SNP	1.000	C
BMPR2	659	genome.wustl.edu	37	2	203378463	203378463	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:203378463G>A	ENST00000374580.4	+	4	979	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.R147Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	147					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCATTTAACCGAGATGAGACA	0.313																																						dbGAP											0													149.0	142.0	144.0					2																	203378463		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.440G>A	2.37:g.203378463G>A	ENSP00000363708:p.Arg147Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R147Q	ENST00000374580.4	37	c.440	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463828	0.43736	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.88975	-2.45;-2.39	5.69	4.81	0.61882	.	0.258631	0.38217	N	0.001780	T	0.80576	0.4649	L	0.27053	0.805	0.50313	D	0.999866	B;B	0.24920	0.052;0.114	B;B	0.12156	0.004;0.007	T	0.75167	-0.3413	10	0.12103	T	0.63	.	14.3708	0.66838	0.0712:0.0:0.9288:0.0	.	147;147	Q13161;Q13873	.;BMPR2_HUMAN	Q	147	ENSP00000363708:R147Q;ENSP00000363702:R147Q	ENSP00000363702:R147Q	R	+	2	0	BMPR2	203086708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.073000	0.57570	1.540000	0.49301	0.655000	0.94253	CGA	BMPR2	-	NULL	ENSG00000204217		0.313	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	117	0.00	0	G	NM_001204		203378463	203378463	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	missense	122	19.74	30	SNP	1.000	A
RP11-464F9.1	0	genome.wustl.edu	37	10	75482182	75482182	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:75482182G>A	ENST00000399449.3	-	0	660				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							TGTTTTAATCGCTTCTTTGTC	0.373																																						dbGAP											0																																										-	-	-			0																															10.37:g.75482182G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000399449.3	37	NULL		10																																																																																			RP11-464F9.1	-	-	ENSG00000242288		0.373	RP11-464F9.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	BMS1P4	Clone_based_vega_gene	processed_transcript	OTTHUMT00000048674.2	96	0.00	0	G			75482182	75482182	-1	no_errors	ENST00000399449	ensembl	human	known	69_37n	rna	75	23.47	23	SNP	1.000	A
BNC1	646	genome.wustl.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	BNC1_ENST00000569704.1_Missense_Mutation_p.R964C|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	971					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTCGACTGCGAACAGACGAA	0.507																																						dbGAP											0													158.0	152.0	154.0					15																	83926268		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2911C>T	15.37:g.83926268G>A	ENSP00000307041:p.Arg971Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R971C	ENST00000345382.2	37	c.2911	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775166	0.90108	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.55234	0.53	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.988	T	0.75855	-0.3170	10	0.87932	D	0	-34.6311	20.3398	0.98759	0.0:0.0:1.0:0.0	.	964;971	F5GY04;Q01954	.;BNC1_HUMAN	C	971;964	ENSP00000307041:R971C	ENSP00000307041:R971C	R	-	1	0	BNC1	81717272	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	6.482000	0.73613	2.811000	0.96726	0.557000	0.71058	CGC	BNC1	-	smart_Znf_C2H2-like	ENSG00000169594		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	205	0.00	0	G	NM_001717		83926268	83926268	-1	no_errors	ENST00000345382	ensembl	human	known	69_37n	missense	146	14.12	24	SNP	1.000	A
BNIP3P1	319138	genome.wustl.edu	37	14	28734493	28734493	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:28734493G>T	ENST00000550043.1	+	0	898									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TAAAATAAAAGAATAGACACT	0.343																																						dbGAP											0																																										-	-	-			0					14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734493G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000550043.1	37	NULL		14																																																																																			BNIP3P1	-	-	ENSG00000197358		0.343	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	24	0.00	0	G			28734493	28734493	+1	no_errors	ENST00000550043	ensembl	human	known	69_37n	rna	15	25.00	5	SNP	0.000	T
BOC	91653	genome.wustl.edu	37	3	112997053	112997053	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:112997053G>A	ENST00000495514.1	+	10	2355	c.1651G>A	c.(1651-1653)Gct>Act	p.A551T	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Missense_Mutation_p.A552T|BOC_ENST00000355385.3_Missense_Mutation_p.A551T			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	551	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGAGATGGCAGCTTACAACTG	0.562																																						dbGAP											0													128.0	112.0	117.0					3																	112997053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1651G>A	3.37:g.112997053G>A	ENSP00000418663:p.Ala551Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A552T	ENST00000495514.1	37	c.1654	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.547576	0.96488	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.61627	0.09;0.09;0.09	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055068	0.64402	D	0.000001	T	0.75852	0.3906	M	0.68317	2.08	0.58432	D	0.999996	D;D	0.71674	0.998;0.998	D;D	0.71414	0.933;0.973	T	0.76597	-0.2901	10	0.72032	D	0.01	.	20.0466	0.97609	0.0:0.0:1.0:0.0	.	552;551	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	T	551;552;551	ENSP00000418663:A551T;ENSP00000273395:A552T;ENSP00000347546:A551T	ENSP00000273395:A552T	A	+	1	0	BOC	114479743	1.000000	0.71417	0.952000	0.39060	0.945000	0.59286	9.467000	0.97671	2.729000	0.93468	0.563000	0.77884	GCT	BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.562	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	99	0.00	0	G	NM_033254		112997053	112997053	+1	no_errors	ENST00000273395	ensembl	human	known	69_37n	missense	68	12.66	10	SNP	0.998	A
BOD1L1	259282	genome.wustl.edu	37	4	13605283	13605283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:13605283C>A	ENST00000040738.5	-	10	3376	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1081						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGGCCATTTCTTGTGACAAG	0.418																																						dbGAP											0													117.0	110.0	112.0					4																	13605283		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3241G>T	4.37:g.13605283C>A	ENSP00000040738:p.Glu1081*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.E1081*	ENST00000040738.5	37	c.3241	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	40	8.302654	0.98750	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.53	5.53	0.82687	.	0.125136	0.36778	N	0.002405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.6394	13.0249	0.58808	0.0:0.9228:0.0:0.0772	.	.	.	.	X	1081	.	ENSP00000040738:E1081X	E	-	1	0	BOD1L	13214381	1.000000	0.71417	0.998000	0.56505	0.440000	0.31957	3.499000	0.53310	2.603000	0.88011	0.650000	0.86243	GAA	BOD1L1	-	NULL	ENSG00000038219		0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	196	0.00	0	C	NM_148894		13605283	13605283	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	nonsense	149	13.87	24	SNP	1.000	A
BOD1L2	284257	genome.wustl.edu	37	18	54814814	54814814	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:54814814C>A	ENST00000585477.1	+	1	522	c.271C>A	c.(271-273)Cct>Act	p.P91T	CTD-2526M8.3_ENST00000590942.1_lincRNA	NM_001257964.1	NP_001244893.1	Q8IYS8	BD1L2_HUMAN	biorientation of chromosomes in cell division 1-like 2	91																	GGAATGGAATCCTCCAGCAAA	0.522																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK127964	CCDS59322.1	18q21.31	2013-10-11	2012-04-10	2012-04-10	ENSG00000228075	ENSG00000228075			28505	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member C"", ""biorientation of chromosomes in cell division 1 pseudogene"""	FAM44C, BOD1P		17938248	Standard	NM_001257964		Approved	MGC33608	uc002lgm.3	Q8IYS8	OTTHUMG00000180124	ENST00000585477.1:c.271C>A	18.37:g.54814814C>A	ENSP00000467843:p.Pro91Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU4|Q8WW13	Missense_Mutation	SNP	NULL	p.P91T	ENST00000585477.1	37	c.271	CCDS59322.1	18	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702805	0.30232	.	.	ENSG00000228075	ENST00000420277	.	.	.	2.43	0.469	0.16741	.	.	.	.	.	T	0.36826	0.0981	.	.	.	0.37172	D	0.903109	B	0.17268	0.021	B	0.22152	0.038	T	0.31308	-0.9948	7	0.66056	D	0.02	.	1.2204	0.01923	0.2249:0.4102:0.221:0.1439	.	91	Q8IYS8	BD1L2_HUMAN	T	63	.	ENSP00000442342:P63T	P	+	1	0	AC100775.1	52965812	0.998000	0.40836	0.192000	0.23308	0.460000	0.32559	2.444000	0.44890	-0.043000	0.13513	0.585000	0.79938	CCT	BOD1L2	-	NULL	ENSG00000228075		0.522	BOD1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L2	HGNC	protein_coding	OTTHUMT00000449763.1	102	0.00	0	C	NM_001257964		54814814	54814814	+1	no_errors	ENST00000585477	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	0.862	A
BOLL	66037	genome.wustl.edu	37	2	198641827	198641827	+	Missense_Mutation	SNP	C	C	T	rs577424738	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:198641827C>T	ENST00000392296.4	-	4	541	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	BOLL_ENST00000282278.8_Intron|BOLL_ENST00000433157.1_Missense_Mutation_p.V78I|BOLL_ENST00000321801.7_Missense_Mutation_p.V90I|BOLL_ENST00000430004.1_Missense_Mutation_p.V78I	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TCAAAAGTGACGAAACCATAC	0.209													C|||	5	0.000998403	0.0	0.0	5008	,	,		14472	0.001		0.0	False		,,,				2504	0.0041					dbGAP											0													53.0	54.0	54.0					2																	198641827		2202	4289	6491	-	-	-	SO:0001583	missense	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.232G>A	2.37:g.198641827C>T	ENSP00000376116:p.Val78Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.V90I	ENST00000392296.4	37	c.268	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443393	0.25987	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.96	-4.8	0.03190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.532723	0.18574	N	0.137248	T	0.16514	0.0397	N	0.20807	0.61	0.50039	D	0.999843	B;B;B;B	0.30605	0.287;0.003;0.003;0.003	B;B;B;B	0.23716	0.048;0.009;0.016;0.018	T	0.00950	-1.1503	10	0.44086	T	0.13	-11.6757	15.2117	0.73230	0.0:0.288:0.0:0.712	.	84;90;78;84	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	I	78;78;90;78	ENSP00000397711:V78I;ENSP00000376116:V78I;ENSP00000314792:V90I;ENSP00000396099:V78I	ENSP00000314792:V90I	V	-	1	0	BOLL	198350072	0.000000	0.05858	0.065000	0.19835	0.983000	0.72400	-1.594000	0.02094	-0.931000	0.03746	-0.897000	0.02905	GTC	BOLL	-	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	ENSG00000152430		0.209	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	240	0.00	0	C	NM_033030		198641827	198641827	-1	no_errors	ENST00000321801	ensembl	human	known	69_37n	missense	132	26.26	47	SNP	0.121	T
BOLL	66037	genome.wustl.edu	37	2	198646557	198646557	+	Missense_Mutation	SNP	T	T	G	rs145625446		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:198646557T>G	ENST00000392296.4	-	2	327	c.18A>C	c.(16-18)ttA>ttC	p.L6F	BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000433157.1_Missense_Mutation_p.L6F|BOLL_ENST00000321801.7_Missense_Mutation_p.L18F|BOLL_ENST00000430004.1_Missense_Mutation_p.L6F	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	6					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						GGGATGGAGATAATGAATCTG	0.403																																						dbGAP											0													222.0	224.0	223.0					2																	198646557		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.18A>C	2.37:g.198646557T>G	ENSP00000376116:p.Leu6Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.L18F	ENST00000392296.4	37	c.54	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540023	0.65085	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.36520	1.58;1.72;1.25;1.72	5.4	0.397	0.16314	.	0.528402	0.17781	N	0.162256	T	0.36580	0.0972	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	D;D;D;D	0.83275	0.996;0.991;0.969;0.986	T	0.15037	-1.0451	10	0.52906	T	0.07	-11.51	8.0625	0.30642	0.0:0.4374:0.0:0.5626	.	12;18;6;12	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	F	6;6;18;6	ENSP00000397711:L6F;ENSP00000376116:L6F;ENSP00000314792:L18F;ENSP00000396099:L6F	ENSP00000314792:L18F	L	-	3	2	BOLL	198354802	0.994000	0.37717	0.999000	0.59377	0.985000	0.73830	0.030000	0.13688	0.052000	0.16007	0.459000	0.35465	TTA	BOLL	-	NULL	ENSG00000152430		0.403	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	325	0.00	0	T	NM_033030		198646557	198646557	-1	no_errors	ENST00000321801	ensembl	human	known	69_37n	missense	160	24.53	52	SNP	0.999	G
BORA	79866	genome.wustl.edu	37	13	73305497	73305497	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:73305497C>T	ENST00000390667.5	+	3	329	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	78					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGATATTCATCGTCAAGCTTT	0.348																																						dbGAP											0													118.0	110.0	112.0					13																	73305497		1820	4074	5894	-	-	-	SO:0001583	missense	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.232C>T	13.37:g.73305497C>T	ENSP00000375082:p.Arg78Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.R78C	ENST00000390667.5	37	c.232	CCDS9446.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.086995|4.086995	0.76642|0.76642	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000390667|ENST00000377814	T|.	0.36340|.	1.26|.	5.48|5.48	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61862|0.61862	0.2381|0.2381	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.59757|0.59757	-0.7394|-0.7394	10|5	0.87932|.	D|.	0|.	-18.8046|-18.8046	13.5623|13.5623	0.61797|0.61797	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	78;78|.	A8K631;Q6PGQ7|.	.;BORA_HUMAN|.	C|L	78|55	ENSP00000375082:R78C|.	ENSP00000375082:R78C|.	R|S	+|+	1|2	0|0	BORA|BORA	72203498|72203498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.738000|6.738000	0.74822|0.74822	1.451000|1.451000	0.47736|0.47736	-0.145000|-0.145000	0.13849|0.13849	CGT|TCG	BORA	-	NULL	ENSG00000136122		0.348	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	262	0.00	0	C	NM_024808		73305497	73305497	+1	no_errors	ENST00000390667	ensembl	human	known	69_37n	missense	141	18.50	32	SNP	1.000	T
BORA	79866	genome.wustl.edu	37	13	73321178	73321178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:73321178G>T	ENST00000390667.5	+	10	1508	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*	BORA_ENST00000377815.3_Nonsense_Mutation_p.E401*	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	471					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										CTTCAGTATTGAAAACTCTCA	0.403																																						dbGAP											0													202.0	189.0	193.0					13																	73321178		1927	4138	6065	-	-	-	SO:0001587	stop_gained	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1411G>T	13.37:g.73321178G>T	ENSP00000375082:p.Glu471*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Nonsense_Mutation	SNP	prints_Aurora_borealis_protien	p.E471*	ENST00000390667.5	37	c.1411	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	G	38	6.915427	0.97932	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	.	.	.	5.7	5.7	0.88788	.	0.044701	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.5123	19.8351	0.96655	0.0:0.0:1.0:0.0	.	.	.	.	X	401;471	.	ENSP00000367046:E401X	E	+	1	0	BORA	72219179	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.049000	0.76613	2.687000	0.91594	0.655000	0.94253	GAA	BORA	-	NULL	ENSG00000136122		0.403	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	328	0.00	0	G	NM_024808		73321178	73321178	+1	no_errors	ENST00000390667	ensembl	human	known	69_37n	nonsense	242	23.17	73	SNP	1.000	T
BPHL	670	genome.wustl.edu	37	6	3129411	3129411	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:3129411G>A	ENST00000380379.5	+	4	560	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	BPHL_ENST00000380368.2_Missense_Mutation_p.E154K|BPHL_ENST00000380375.3_Missense_Mutation_p.E154K|BPHL_ENST00000434640.1_Missense_Mutation_p.E154K	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	171					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CGTCACTGACGAAGACAGCAT	0.527																																						dbGAP											0													103.0	78.0	86.0					6																	3129411		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.511G>A	6.37:g.3129411G>A	ENSP00000369739:p.Glu171Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.E171K	ENST00000380379.5	37	c.511	CCDS4483.2	6	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077808	0.20227	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.23	3.42	0.39159	.	0.203036	0.50627	D	0.000120	T	0.37625	0.1010	L	0.45352	1.415	0.58432	D	0.999993	B;B	0.19445	0.036;0.029	B;B	0.19946	0.027;0.016	T	0.37820	-0.9689	10	0.08837	T	0.75	-22.3338	15.4675	0.75412	0.0:0.2752:0.7248:0.0	.	171;154	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	K	154;154;154;171	ENSP00000390472:E154K;ENSP00000369734:E154K;ENSP00000369726:E154K;ENSP00000369739:E171K	ENSP00000369726:E154K	E	+	1	0	BPHL	3074410	0.999000	0.42202	0.007000	0.13788	0.022000	0.10575	2.879000	0.48522	0.579000	0.29504	0.561000	0.74099	GAA	BPHL	-	NULL	ENSG00000137274		0.527	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPHL	HGNC	protein_coding	OTTHUMT00000039670.5	276	0.00	0	G			3129411	3129411	+1	no_errors	ENST00000380379	ensembl	human	known	69_37n	missense	96	54.50	115	SNP	0.790	A
BPIFA3	128861	genome.wustl.edu	37	20	31811624	31811624	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31811624T>G	ENST00000375454.3	+	2	345	c.135T>G	c.(133-135)gcT>gcG	p.A45A	BPIFA3_ENST00000375452.3_Silent_p.A45A|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	45						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAGTTATTGCTCAGGGCCTCA	0.557																																						dbGAP											0													104.0	87.0	93.0					20																	31811624		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.135T>G	20.37:g.31811624T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWG8|Q6NZ38	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.A45	ENST00000375454.3	37	c.135	CCDS13216.2	20																																																																																			BPIFA3	-	superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000131059		0.557	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BPIFA3	HGNC	protein_coding	OTTHUMT00000078672.1	261	0.00	0	T	NM_178466		31811624	31811624	+1	no_errors	ENST00000375454	ensembl	human	known	69_37n	silent	241	29.07	100	SNP	0.838	G
BPIFB6	128859	genome.wustl.edu	37	20	31630657	31630657	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31630657G>A	ENST00000349552.1	+	13	1225	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	409						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAGCTATCTCGAAGAAGCCTA	0.458																																						dbGAP											0													124.0	105.0	112.0					20																	31630657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1225G>A	20.37:g.31630657G>A	ENSP00000344929:p.Glu409Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.E409K	ENST00000349552.1	37	c.1225	CCDS13211.1	20	.	.	.	.	.	.	.	.	.	.	G	7.059	0.565917	0.13560	.	.	ENSG00000167104	ENST00000349552	T	0.08458	3.09	4.77	3.82	0.43975	.	0.552403	0.16315	N	0.219839	T	0.02970	0.0088	N	0.08118	0	0.23959	N	0.996343	P	0.35944	0.529	B	0.22386	0.039	T	0.32534	-0.9903	10	0.06099	T	0.92	-19.6419	10.6825	0.45823	0.0:0.7943:0.2057:0.0	.	409	Q8NFQ5	BPIB6_HUMAN	K	409	ENSP00000344929:E409K	ENSP00000344929:E409K	E	+	1	0	BPIFB6	31094318	0.131000	0.22433	0.979000	0.43373	0.116000	0.19942	1.159000	0.31749	1.230000	0.43646	-0.311000	0.09066	GAA	BPIFB6	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000167104		0.458	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB6	HGNC	protein_coding	OTTHUMT00000078658.2	88	0.00	0	G	NM_174897		31630657	31630657	+1	no_errors	ENST00000349552	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	0.996	A
BPIFB3	359710	genome.wustl.edu	37	20	31643318	31643318	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31643318C>T	ENST00000375494.3	+	1	89	c.89C>T	c.(88-90)aCg>aTg	p.T30M	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	30	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ACGGTGGGCACGCTCGCTCGG	0.592																																						dbGAP											0													94.0	87.0	89.0					20																	31643318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.89C>T	20.37:g.31643318C>T	ENSP00000364643:p.Thr30Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDX7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T30M	ENST00000375494.3	37	c.89	CCDS13212.1	20	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816481	0.70912	.	.	ENSG00000186190	ENST00000375494	T	0.04406	3.63	4.69	4.69	0.59074	.	0.236054	0.30036	N	0.010578	T	0.15912	0.0383	L	0.54323	1.7	0.34623	D	0.718818	D	0.89917	1.0	D	0.80764	0.994	T	0.03852	-1.0998	10	0.52906	T	0.07	-11.3805	13.0035	0.58690	0.0:1.0:0.0:0.0	.	30	P59826	BPIB3_HUMAN	M	30	ENSP00000364643:T30M	ENSP00000364643:T30M	T	+	2	0	BPIFB3	31106979	0.982000	0.34865	0.976000	0.42696	0.890000	0.51754	3.319000	0.51983	2.437000	0.82529	0.655000	0.94253	ACG	BPIFB3	-	superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000186190		0.592	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB3	HGNC	protein_coding	OTTHUMT00000078654.2	149	0.00	0	C	NM_182658		31643318	31643318	+1	no_errors	ENST00000375494	ensembl	human	known	69_37n	missense	82	15.31	15	SNP	0.968	T
BPIFA3	128861	genome.wustl.edu	37	20	31815361	31815361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31815361G>T	ENST00000375454.3	+	7	913	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	BPIFA3_ENST00000375452.3_Nonsense_Mutation_p.E199*|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	235						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGCTGCTCATGAACCAACCCA	0.557																																						dbGAP											0													93.0	104.0	101.0					20																	31815361		2062	4201	6263	-	-	-	SO:0001587	stop_gained	0				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.703G>T	20.37:g.31815361G>T	ENSP00000364603:p.Glu235*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWG8|Q6NZ38	Nonsense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.E235*	ENST00000375454.3	37	c.703	CCDS13216.2	20	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434414	0.43224	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	.	.	.	3.17	-2.78	0.05859	.	1.856640	0.02953	N	0.142027	.	.	.	.	.	.	0.27488	N	0.952365	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	0.2124	4.4198	0.11474	0.5376:0.1852:0.2772:0.0	.	.	.	.	X	235;199	.	ENSP00000364601:E199X	E	+	1	0	BPIFA3	31279022	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.015000	0.13355	-0.596000	0.05821	0.462000	0.41574	GAA	BPIFA3	-	NULL	ENSG00000131059		0.557	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BPIFA3	HGNC	protein_coding	OTTHUMT00000078672.1	136	0.00	0	G	NM_178466		31815361	31815361	+1	no_errors	ENST00000375454	ensembl	human	known	69_37n	nonsense	96	30.22	42	SNP	0.000	T
BPIFC	254240	genome.wustl.edu	37	22	32813114	32813114	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32813114G>T	ENST00000397452.1	-	14	1392	c.1282C>A	c.(1282-1284)Cta>Ata	p.L428I	BPIFC_ENST00000300399.3_Missense_Mutation_p.L428I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L152I|BPIFC_ENST00000432451.2_Missense_Mutation_p.L185I			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	428						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										ATGGACGATAGAATATTTTCA	0.378																																						dbGAP											0													139.0	147.0	144.0					22																	32813114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1282C>A	22.37:g.32813114G>T	ENSP00000380594:p.Leu428Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.L428I	ENST00000397452.1	37	c.1282	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813426	0.70912	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.76	2.26	0.28386	.	0.073821	0.56097	D	0.000035	T	0.30885	0.0779	M	0.64997	1.995	0.34362	D	0.691099	D;D	0.64830	0.994;0.962	P;P	0.59595	0.86;0.784	T	0.38628	-0.9652	10	0.42905	T	0.14	-8.678	4.1894	0.10414	0.3:0.0:0.5454:0.1546	.	185;428	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	I	428;428;152;185	ENSP00000380594:L428I;ENSP00000300399:L428I;ENSP00000439123:L152I;ENSP00000408920:L185I	ENSP00000300399:L428I	L	-	1	2	BPIFC	31143114	1.000000	0.71417	0.955000	0.39395	0.953000	0.61014	1.232000	0.32636	0.612000	0.30071	0.655000	0.94253	CTA	BPIFC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	ENSG00000184459		0.378	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	205	0.00	0	G	NM_174932		32813114	32813114	-1	no_errors	ENST00000300399	ensembl	human	known	69_37n	missense	137	22.16	39	SNP	0.918	T
BRAP	8315	genome.wustl.edu	37	12	112096634	112096634	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:112096634C>T	ENST00000327551.6	-	9	1177	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	BRAP_ENST00000419234.4_Missense_Mutation_p.R376Q|BRAP_ENST00000539060.1_Missense_Mutation_p.R197Q			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TGCAACCAGTCGATGAACATA	0.348																																					Pancreas(146;846 1904 7830 25130 26065)	dbGAP											0													137.0	126.0	130.0					12																	112096634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1037G>A	12.37:g.112096634C>T	ENSP00000330813:p.Arg346Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.R376Q	ENST00000327551.6	37	c.1127		12	.	.	.	.	.	.	.	.	.	.	C	35	5.503246	0.96371	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.70164	-0.46;-0.46;-0.46	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	M	0.93016	3.37	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.70227	0.968;0.914	D	0.88877	0.3337	10	0.62326	D	0.03	-7.1227	19.4175	0.94708	0.0:1.0:0.0:0.0	.	197;376	B4DRM1;Q7Z569	.;BRAP_HUMAN	Q	376;197;346;158	ENSP00000403524:R376Q;ENSP00000441659:R197Q;ENSP00000330813:R346Q	ENSP00000330813:R346Q	R	-	2	0	BRAP	110581017	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.232000	0.78116	2.606000	0.88127	0.650000	0.86243	CGA	BRAP	-	pfam_Znf_UBP,pfscan_Znf_UBP	ENSG00000089234		0.348	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	152	0.00	0	C			112096634	112096634	-1	no_errors	ENST00000419234	ensembl	human	known	69_37n	missense	147	18.33	33	SNP	1.000	T
BRAP	8315	genome.wustl.edu	37	12	112117032	112117032	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:112117032C>T	ENST00000327551.6	-	4	606	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	BRAP_ENST00000419234.4_Missense_Mutation_p.E186K|BRAP_ENST00000539060.1_Missense_Mutation_p.E45K			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TCAATTACTTCGTTAAATGGG	0.383																																					Pancreas(146;846 1904 7830 25130 26065)	dbGAP											0													100.0	92.0	95.0					12																	112117032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.466G>A	12.37:g.112117032C>T	ENSP00000330813:p.Glu156Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.E186K	ENST00000327551.6	37	c.556		12	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444210	0.63067	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551	T;T;T	0.46451	0.87;0.91;0.87	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);BRCA1-associated 2 (2);	0.141346	0.64402	D	0.000005	T	0.31857	0.0810	L	0.29908	0.895	0.58432	D	0.999999	B;P	0.40794	0.382;0.729	B;B	0.35073	0.056;0.195	T	0.06338	-1.0832	10	0.22109	T	0.4	-11.3602	19.0153	0.92892	0.0:1.0:0.0:0.0	.	45;186	B4DRM1;Q7Z569	.;BRAP_HUMAN	K	186;45;156	ENSP00000403524:E186K;ENSP00000441659:E45K;ENSP00000330813:E156K	ENSP00000330813:E156K	E	-	1	0	BRAP	110601415	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.398000	0.79919	2.572000	0.86782	0.385000	0.25706	GAA	BRAP	-	pfam_BRAP2	ENSG00000089234		0.383	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	153	0.00	0	C			112117032	112117032	-1	no_errors	ENST00000419234	ensembl	human	known	69_37n	missense	117	11.28	15	SNP	1.000	T
N4BP2L1	90634	genome.wustl.edu	37	13	32972674	32972674	+	IGR	SNP	G	G	A	rs28897761		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:32972674G>A	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.E3342K|BRCA2_ENST00000544455.1_Missense_Mutation_p.E3342K	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AATAGCTGACGAAGAACTTGC	0.358																																						dbGAP											0													54.0	58.0	56.0					13																	32972674		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972674G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN21|Q5TBK0	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.E3342K	ENST00000380130.2	37	c.10024	CCDS9345.2	13	.	.	.	.	.	.	.	.	.	.	G	33	5.258010	0.95368	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.02103	4.45;4.45	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.76328	2.33	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.00031	-1.2279	10	0.87932	D	0	.	19.8745	0.96864	0.0:0.0:1.0:0.0	rs28897761	3342	P51587	BRCA2_HUMAN	K	3342	ENSP00000369497:E3342K;ENSP00000439902:E3342K	ENSP00000369497:E3342K	E	+	1	0	BRCA2	31870674	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.778000	0.75043	2.704000	0.92352	0.467000	0.42956	GAA	BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.358	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding		165	0.00	0	G	NM_052818		32972674	32972674	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	1.000	A
BRD4	23476	genome.wustl.edu	37	19	15355563	15355563	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:15355563C>T	ENST00000263377.2	-	12	2390	c.2169G>A	c.(2167-2169)ccG>ccA	p.P723P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	723					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.P723P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTTTTGACTTCGGAGCCATCT	0.567			T	C15orf55	lethal midline carcinoma of young people																																	dbGAP		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	1	Substitution - coding silent(1)	large_intestine(1)											113.0	112.0	113.0					19																	15355563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2169G>A	19.37:g.15355563C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P723	ENST00000263377.2	37	c.2169	CCDS12328.1	19																																																																																			BRD4	-	NULL	ENSG00000141867		0.567	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	76	0.00	0	C	NM_058243		15355563	15355563	-1	no_errors	ENST00000263377	ensembl	human	known	69_37n	silent	40	12.77	6	SNP	0.935	T
BRD8	10902	genome.wustl.edu	37	5	137498853	137498853	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:137498853C>T	ENST00000254900.5	-	15	2424	c.2053G>A	c.(2053-2055)Gac>Aac	p.D685N	BRD8_ENST00000515014.1_Intron|BRD8_ENST00000455658.2_Missense_Mutation_p.D644N|BRD8_ENST00000230901.5_Missense_Mutation_p.D758N|BRD8_ENST00000402931.1_Missense_Mutation_p.D685N|BRD8_ENST00000411594.2_Missense_Mutation_p.D688N	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	685					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGATGGAGTCTGCCAGTGTG	0.488																																						dbGAP											0													223.0	177.0	193.0					5																	137498853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2053G>A	5.37:g.137498853C>T	ENSP00000254900:p.Asp685Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.D685N	ENST00000254900.5	37	c.2053	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.703834	0.96812	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T	0.35421	1.68;1.31;1.33;1.47;1.45;1.32;1.45	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	L	0.32530	0.975	0.80722	D	1	D;P;D;D;D;D;D;D	0.89917	0.993;0.942;0.995;0.997;0.998;0.985;1.0;1.0	D;P;P;D;D;P;D;D	0.91635	0.909;0.693;0.849;0.983;0.962;0.804;0.999;0.996	T	0.45745	-0.9240	10	0.51188	T	0.08	-11.17	18.5908	0.91212	0.0:1.0:0.0:0.0	.	644;669;464;758;688;579;758;685	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	N	685;714;683;758;685;688;579;644;153	ENSP00000254900:D685N;ENSP00000398067:D714N;ENSP00000398873:D683N;ENSP00000230901:D758N;ENSP00000384845:D685N;ENSP00000394330:D688N;ENSP00000408396:D644N	ENSP00000230901:D758N	D	-	1	0	BRD8	137526752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.312000	0.78968	2.873000	0.98535	0.561000	0.74099	GAC	BRD8	-	NULL	ENSG00000112983		0.488	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	432	0.00	0	C	NM_006696		137498853	137498853	-1	no_errors	ENST00000254900	ensembl	human	known	69_37n	missense	391	15.18	70	SNP	1.000	T
BRDT	676	genome.wustl.edu	37	1	92446270	92446270	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:92446270A>G	ENST00000362005.3	+	10	1776	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	BRDT_ENST00000394530.3_Missense_Mutation_p.E407G|BRDT_ENST00000402388.1_Missense_Mutation_p.E453G|BRDT_ENST00000370389.2_Missense_Mutation_p.E380G|BRDT_ENST00000399546.2_Missense_Mutation_p.E453G	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	453					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAAAGAAAGAGAAGTCTAAA	0.323																																						dbGAP											0													43.0	49.0	47.0					1																	92446270		2197	4292	6489	-	-	-	SO:0001583	missense	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1358A>G	1.37:g.92446270A>G	ENSP00000354568:p.Glu453Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E453G	ENST00000362005.3	37	c.1358	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.263490	0.23136	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5	5.91	4.8	0.61643	.	0.373710	0.25453	N	0.030564	T	0.11281	0.0275	M	0.86502	2.82	0.39933	D	0.974313	B;B;B;B	0.15141	0.012;0.012;0.009;0.012	B;B;B;B	0.17098	0.006;0.006;0.017;0.006	T	0.04128	-1.0975	10	0.44086	T	0.13	-7.6445	9.1569	0.36998	0.8378:0.0:0.1622:0.0	.	407;407;457;453	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	G	453;380;453;453;407;453;453	ENSP00000354568:E453G;ENSP00000359416:E380G;ENSP00000387822:E453G;ENSP00000378038:E407G;ENSP00000404969:E453G;ENSP00000384051:E453G	ENSP00000354568:E453G	E	+	2	0	BRDT	92218858	0.987000	0.35691	0.791000	0.31998	0.127000	0.20565	2.664000	0.46783	2.256000	0.74724	0.528000	0.53228	GAG	BRDT	-	NULL	ENSG00000137948		0.323	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	87	0.00	0	A	NM_207189		92446270	92446270	+1	no_errors	ENST00000362005	ensembl	human	known	69_37n	missense	65	14.47	11	SNP	0.960	G
BRE	9577	genome.wustl.edu	37	2	28248273	28248273	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:28248273A>G	ENST00000342045.2	+	6	622	c.481A>G	c.(481-483)Aaa>Gaa	p.K161E	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379632.2_Missense_Mutation_p.K161E|BRE_ENST00000344773.2_Missense_Mutation_p.K161E|BRE_ENST00000379624.1_Missense_Mutation_p.K161E|BRE_ENST00000361704.2_Missense_Mutation_p.K161E	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTATGCTGGGAAAAAAAACAA	0.393																																						dbGAP											0													47.0	51.0	49.0					2																	28248273		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.481A>G	2.37:g.28248273A>G	ENSP00000339371:p.Lys161Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Brain/reproduct-express_prot	p.K161E	ENST00000342045.2	37	c.481	CCDS1763.1	2	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687693	0.48097	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629;ENST00000379623	.	.	.	5.51	5.51	0.81932	.	0.177544	0.44902	D	0.000418	T	0.46639	0.1403	L	0.38175	1.15	0.43283	D	0.995251	P;P;P;P	0.47910	0.902;0.611;0.557;0.557	B;B;B;B	0.43301	0.415;0.187;0.118;0.118	T	0.40327	-0.9569	8	.	.	.	-22.3668	15.6604	0.77182	1.0:0.0:0.0:0.0	.	161;161;161;161	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	E	161;161;161;161;161;161;63	.	.	K	+	1	0	BRE	28101777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.095000	0.63458	0.528000	0.53228	AAA	BRE	-	pfam_Brain/reproduct-express_prot	ENSG00000158019		0.393	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	179	0.56	1	A			28248273	28248273	+1	no_errors	ENST00000344773	ensembl	human	known	69_37n	missense	150	10.12	17	SNP	1.000	G
BRE	9577	genome.wustl.edu	37	2	28561332	28561333	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:28561332_28561333insT	ENST00000342045.2	+	13	1245_1246	c.1104_1105insT	c.(1105-1107)tttfs	p.F369fs	BRE_ENST00000379632.2_3'UTR|BRE_ENST00000344773.2_3'UTR|BRE_ENST00000379624.1_Frame_Shift_Ins_p.F369fs|BRE_ENST00000361704.2_3'UTR	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ATTTCAAAACCTTTGTCCCTCA	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1107dupT	2.37:g.28561335_28561335dupT	ENSP00000339371:p.Phe369fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Brain/reproduct-express_prot	p.V369fs	ENST00000342045.2	37	c.1104_1105	CCDS1763.1	2																																																																																			BRE	-	NULL	ENSG00000158019		0.475	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BRE	HGNC	protein_coding	OTTHUMT00000215114.1	210	0.00	0	-			28561332	28561333	+1	no_errors	ENST00000342045	ensembl	human	known	69_37n	frame_shift_ins	153	19.47	37	INS	1.000:1.000	T
BRIP1	83990	genome.wustl.edu	37	17	59763302	59763302	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:59763302A>C	ENST00000259008.2	-	19	3067	c.2800T>G	c.(2800-2802)Ttt>Gtt	p.F934V	BRIP1_ENST00000577598.1_Missense_Mutation_p.F934V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	934	Interaction with BRCA1.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTTCCACAAAATTTTCTGGT	0.373			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													182.0	184.0	183.0					17																	59763302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2800T>G	17.37:g.59763302A>C	ENSP00000259008:p.Phe934Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.F934V	ENST00000259008.2	37	c.2800	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	A	0.550	-0.849971	0.02651	.	.	ENSG00000136492	ENST00000259008	T	0.72835	-0.69	5.38	-0.989	0.10242	.	11.625700	0.01015	N	0.003893	T	0.51924	0.1703	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.16689	-1.0394	9	.	.	.	-0.037	0.9597	0.01393	0.1913:0.1401:0.3496:0.319	.	934;934	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	V	934	ENSP00000259008:F934V	.	F	-	1	0	BRIP1	57118084	0.982000	0.34865	0.015000	0.15790	0.046000	0.14306	0.170000	0.16663	-0.091000	0.12440	-0.438000	0.05819	TTT	BRIP1	-	superfamily_TIL_dom	ENSG00000136492		0.373	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	288	0.00	0	A	NM_032043		59763302	59763302	-1	no_errors	ENST00000259008	ensembl	human	known	69_37n	missense	168	21.03	45	SNP	0.017	C
BRMS1L	84312	genome.wustl.edu	37	14	36333140	36333140	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:36333140G>T	ENST00000216807.7	+	6	802	c.603G>T	c.(601-603)aaG>aaT	p.K201N	BRMS1L_ENST00000543183.1_Missense_Mutation_p.K153N	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	201					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CTGACAAAAAGAAGCCAGTTG	0.348																																						dbGAP											0													98.0	102.0	100.0					14																	36333140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.603G>T	14.37:g.36333140G>T	ENSP00000216807:p.Lys201Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFW5|A6NH45|B2RD65|Q9BRI4	Missense_Mutation	SNP	pfam_Sds3	p.K201N	ENST00000216807.7	37	c.603	CCDS32066.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.107082|4.107082	0.77096|0.77096	.|.	.|.	ENSG00000100916|ENSG00000100916	ENST00000216807;ENST00000543183|ENST00000551774	.|.	.|.	.|.	5.65|5.65	4.76|4.76	0.60689|0.60689	.|.	0.127552|.	0.64402|.	D|.	0.000001|.	T|T	0.74726|0.74726	0.3754|0.3754	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	P|.	0.52692|.	0.955|.	P|.	0.60609|.	0.877|.	T|T	0.76181|0.76181	-0.3053|-0.3053	9|5	0.87932|.	D|.	0|.	-19.4462|-19.4462	12.3951|12.3951	0.55380|0.55380	0.1398:0.0:0.8602:0.0|0.1398:0.0:0.8602:0.0	.|.	201|.	Q5PSV4|.	BRM1L_HUMAN|.	N|I	201;153|116	.|.	ENSP00000216807:K201N|.	K|R	+|+	3|2	2|0	BRMS1L|BRMS1L	35402891|35402891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.244000|4.244000	0.58728|0.58728	1.386000|1.386000	0.46466|0.46466	0.655000|0.655000	0.94253|0.94253	AAG|AGA	BRMS1L	-	pfam_Sds3	ENSG00000100916		0.348	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1L	HGNC	protein_coding	OTTHUMT00000409601.2	563	0.00	0	G	NM_032352		36333140	36333140	+1	no_errors	ENST00000216807	ensembl	human	known	69_37n	missense	417	27.23	156	SNP	1.000	T
BRWD1	54014	genome.wustl.edu	37	21	40619685	40619685	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:40619685C>A	ENST00000333229.2	-	21	2750	c.2423G>T	c.(2422-2424)aGa>aTa	p.R808I	BRWD1_ENST00000380800.3_Missense_Mutation_p.R808I|BRWD1_ENST00000342449.3_Missense_Mutation_p.R808I	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	808					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCTACGATTTCTTCTACCATA	0.363																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													98.0	92.0	94.0					21																	40619685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2423G>T	21.37:g.40619685C>A	ENSP00000330753:p.Arg808Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R808I	ENST00000333229.2	37	c.2423	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325777	0.60743	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.58506	0.33;0.35;0.42	5.44	4.32	0.51571	.	0.458102	0.23874	N	0.043713	T	0.57607	0.2065	L	0.59436	1.845	0.80722	D	1	P;P	0.48911	0.589;0.917	B;P	0.47470	0.195;0.548	T	0.61992	-0.6948	10	0.87932	D	0	-11.6972	9.3982	0.38415	0.0:0.8637:0.0:0.1363	.	808;808	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	I	808	ENSP00000330753:R808I;ENSP00000344333:R808I;ENSP00000370178:R808I	ENSP00000330753:R808I	R	-	2	0	BRWD1	39541555	0.996000	0.38824	0.996000	0.52242	0.939000	0.58152	1.899000	0.39818	2.711000	0.92665	0.591000	0.81541	AGA	BRWD1	-	NULL	ENSG00000185658		0.363	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	261	0.00	0	C	NM_033656		40619685	40619685	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	223	22.84	66	SNP	0.977	A
BRWD3	254065	genome.wustl.edu	37	X	79932158	79932158	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:79932158T>C	ENST00000373275.4	-	41	5575	c.5359A>G	c.(5359-5361)Aaa>Gaa	p.K1787E	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1787					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTGTCATTTTACGCACTCTG	0.363																																						dbGAP											0													62.0	53.0	56.0					X																	79932158		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5359A>G	X.37:g.79932158T>C	ENSP00000362372:p.Lys1787Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.K1787E	ENST00000373275.4	37	c.5359	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723154	0.30503	.	.	ENSG00000165288	ENST00000373275	T	0.66460	-0.21	4.24	4.24	0.50183	.	0.061991	0.64402	D	0.000008	T	0.50820	0.1638	L	0.27053	0.805	0.35729	D	0.817798	P	0.42692	0.787	B	0.38056	0.264	T	0.60596	-0.7232	9	.	.	.	-15.8153	12.9298	0.58280	0.0:0.0:0.0:1.0	.	1787	Q6RI45	BRWD3_HUMAN	E	1787	ENSP00000362372:K1787E	.	K	-	1	0	BRWD3	79818814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.405000	0.52630	1.692000	0.51112	0.417000	0.27973	AAA	BRWD3	-	NULL	ENSG00000165288		0.363	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	210	0.00	0	T	NM_153252		79932158	79932158	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	178	16.82	36	SNP	1.000	C
BRWD3	254065	genome.wustl.edu	37	X	79971733	79971733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:79971733G>A	ENST00000373275.4	-	20	2464	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	750					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTGCAGTTCGACATTCTTCC	0.299																																						dbGAP											0													151.0	130.0	137.0					X																	79971733		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2248C>T	X.37:g.79971733G>A	ENSP00000362372:p.Arg750*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R750*	ENST00000373275.4	37	c.2248	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	41	8.890289	0.98992	.	.	ENSG00000165288	ENST00000373275	.	.	.	5.17	3.3	0.37823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1228	12.4261	0.55548	0.0:0.0:0.5232:0.4767	.	.	.	.	X	750	.	.	R	-	1	2	BRWD3	79858389	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.677000	0.46892	0.483000	0.27608	0.544000	0.68410	CGA	BRWD3	-	NULL	ENSG00000165288		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	287	0.00	0	G	NM_153252		79971733	79971733	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	nonsense	113	11.02	14	SNP	1.000	A
BRWD3	254065	genome.wustl.edu	37	X	79990692	79990692	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:79990692G>A	ENST00000373275.4	-	10	1135	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	307					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCACCGGGCGATCTCTAAAG	0.388																																						dbGAP											0													59.0	53.0	55.0					X																	79990692		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.919C>T	X.37:g.79990692G>A	ENSP00000362372:p.Arg307Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R307C	ENST00000373275.4	37	c.919	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890431	0.72524	.	.	ENSG00000165288	ENST00000373275	T	0.19532	2.14	5.06	4.2	0.49525	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.065297	0.64402	D	0.000003	T	0.42223	0.1193	M	0.72118	2.19	0.47374	D	0.999405	D	0.89917	1.0	D	0.66351	0.943	T	0.28650	-1.0037	9	.	.	.	-4.7757	12.9324	0.58294	0.0802:0.0:0.9198:0.0	.	307	Q6RI45	BRWD3_HUMAN	C	307	ENSP00000362372:R307C	.	R	-	1	0	BRWD3	79877348	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.523000	0.73787	1.130000	0.42092	0.544000	0.68410	CGC	BRWD3	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	186	0.00	0	G	NM_153252		79990692	79990692	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	139	11.80	19	SNP	1.000	A
BSDC1	55108	genome.wustl.edu	37	1	32842065	32842065	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:32842065G>A	ENST00000455895.2	-	9	987	c.954C>T	c.(952-954)ggC>ggT	p.G318G	BSDC1_ENST00000419121.2_Silent_p.G262G|BSDC1_ENST00000341071.7_Silent_p.G335G|BSDC1_ENST00000446293.2_Silent_p.G335G|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Silent_p.G318G|BSDC1_ENST00000413080.1_Silent_p.G257G|BSDC1_ENST00000526031.1_Silent_p.G223G	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	318										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCACAGCCAGGCCCTGTTCCT	0.637																																						dbGAP											0													93.0	85.0	88.0					1																	32842065		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.954C>T	1.37:g.32842065G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.G335	ENST00000455895.2	37	c.1005	CCDS363.2	1																																																																																			BSDC1	-	NULL	ENSG00000160058		0.637	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	143	0.00	0	G	NM_018045		32842065	32842065	-1	no_errors	ENST00000341071	ensembl	human	known	69_37n	silent	122	11.51	16	SNP	0.044	A
BSN	8927	genome.wustl.edu	37	3	49679770	49679770	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:49679770C>T	ENST00000296452.4	+	3	817	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	235					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACTGCACCTCGCTCCAAGAG	0.597																																						dbGAP											0													31.0	31.0	31.0					3																	49679770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.703C>T	3.37:g.49679770C>T	ENSP00000296452:p.Arg235Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R235C	ENST00000296452.4	37	c.703	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092732	0.56075	.	.	ENSG00000164061	ENST00000296452	T	0.19806	2.12	4.92	4.92	0.64577	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	L	0.55481	1.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.71184	0.972	T	0.28996	-1.0026	10	0.56958	D	0.05	.	18.4708	0.90774	0.0:1.0:0.0:0.0	.	235	Q9UPA5	BSN_HUMAN	C	235	ENSP00000296452:R235C	ENSP00000296452:R235C	R	+	1	0	BSN	49654774	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.758000	0.62220	2.436000	0.82500	0.462000	0.41574	CGC	BSN	-	superfamily_Znf_FYVE_PHD	ENSG00000164061		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	51	0.00	0	C	NM_003458		49679770	49679770	+1	no_errors	ENST00000296452	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	T
BTBD1	53339	genome.wustl.edu	37	15	83710631	83710631	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:83710631T>G	ENST00000261721.4	-	4	913	c.711A>C	c.(709-711)gaA>gaC	p.E237D	BTBD1_ENST00000560015.1_5'Flank|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.E237D|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	237					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		AAAGTCGACTTTCTCGAATAC	0.373																																						dbGAP											0													117.0	111.0	113.0					15																	83710631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.711A>C	15.37:g.83710631T>G	ENSP00000261721:p.Glu237Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.E237D	ENST00000261721.4	37	c.711	CCDS10322.1	15	.	.	.	.	.	.	.	.	.	.	T	22.6	4.306355	0.81247	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	D;D	0.93426	-3.22;-3.22	5.62	3.33	0.38152	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	H	0.95224	3.64	0.53005	D	0.999963	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.985	D	0.96206	0.9149	10	0.87932	D	0	-28.0293	7.73	0.28781	0.0:0.2905:0.0:0.7095	.	237;237	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	D	237	ENSP00000261721:E237D;ENSP00000368713:E237D	ENSP00000261721:E237D	E	-	3	2	BTBD1	81501635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.778000	0.38614	0.965000	0.38133	0.533000	0.62120	GAA	BTBD1	-	pfam_BACK,smart_BACK	ENSG00000064726		0.373	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	306	0.00	0	T			83710631	83710631	-1	no_errors	ENST00000261721	ensembl	human	known	69_37n	missense	253	11.23	32	SNP	1.000	G
BTBD10	84280	genome.wustl.edu	37	11	13443377	13443377	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:13443377G>A	ENST00000278174.5	-	3	355	c.110C>T	c.(109-111)tCg>tTg	p.S37L	BTBD10_ENST00000530907.1_Missense_Mutation_p.S45L|BTBD10_ENST00000528120.1_5'UTR|BTBD10_ENST00000532261.1_5'UTR	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	37						nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGCAATACGCGAGGAAGTACT	0.378																																						dbGAP											0													65.0	58.0	61.0					11																	13443377		2200	4294	6494	-	-	-	SO:0001583	missense	0			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.110C>T	11.37:g.13443377G>A	ENSP00000278174:p.Ser37Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z228|Q86WG1	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.S37L	ENST00000278174.5	37	c.110	CCDS7811.1	11	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666067	0.47677	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000529708;ENST00000526841	T;T	0.33865	1.45;1.39	5.11	5.11	0.69529	.	0.162482	0.42053	D	0.000763	T	0.16342	0.0393	N	0.08118	0	0.80722	D	1	P;P;B	0.41313	0.745;0.593;0.44	B;B;B	0.23018	0.043;0.043;0.043	T	0.10823	-1.0613	10	0.20046	T	0.44	-9.1726	18.3211	0.90238	0.0:0.0:1.0:0.0	.	6;45;37	B7Z2J1;B7Z228;Q9BSF8	.;.;BTBDA_HUMAN	L	37;45;37;37	ENSP00000278174:S37L;ENSP00000431186:S45L	ENSP00000278174:S37L	S	-	2	0	BTBD10	13399953	1.000000	0.71417	0.995000	0.50966	0.614000	0.37383	5.825000	0.69286	2.665000	0.90641	0.655000	0.94253	TCG	BTBD10	-	NULL	ENSG00000148925		0.378	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD10	HGNC	protein_coding	OTTHUMT00000386200.1	107	0.00	0	G	NM_032320		13443377	13443377	-1	no_errors	ENST00000278174	ensembl	human	known	69_37n	missense	48	31.43	22	SNP	1.000	A
BTBD16	118663	genome.wustl.edu	37	10	124094412	124094412	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:124094412C>T	ENST00000260723.4	+	14	1432	c.1181C>T	c.(1180-1182)tCg>tTg	p.S394L	BTBD16_ENST00000368994.2_Missense_Mutation_p.S395L|BTBD16_ENST00000495370.2_3'UTR	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	394										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ACAACTTATTCGAAAACGATT	0.383																																						dbGAP											0													112.0	110.0	111.0					10																	124094412		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1181C>T	10.37:g.124094412C>T	ENSP00000260723:p.Ser394Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	superfamily_BTB/POZ_fold	p.S395L	ENST00000260723.4	37	c.1184	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877571	0.51801	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.19250	2.16;2.16	5.53	4.59	0.56863	.	0.120271	0.35805	N	0.002968	T	0.38558	0.1045	M	0.67953	2.075	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.61275	0.886;0.886	T	0.19582	-1.0301	10	0.34782	T	0.22	-10.627	12.0285	0.53384	0.0:0.826:0.174:0.0	.	395;394	Q32M84-2;Q32M84	.;BTBDG_HUMAN	L	394;395	ENSP00000260723:S394L;ENSP00000357990:S395L	ENSP00000260723:S394L	S	+	2	0	BTBD16	124084402	0.688000	0.27680	0.018000	0.16275	0.034000	0.12701	2.400000	0.44504	1.275000	0.44379	0.655000	0.94253	TCG	BTBD16	-	NULL	ENSG00000138152		0.383	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3	131	0.00	0	C	NM_144587		124094412	124094412	+1	no_errors	ENST00000368994	ensembl	human	known	69_37n	missense	96	20.66	25	SNP	0.092	T
BTBD3	22903	genome.wustl.edu	37	20	11903822	11903823	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:11903822_11903823insGC	ENST00000405977.1	+	5	1702_1703	c.1077_1078insGC	c.(1078-1080)cttfs	p.L360fs	BTBD3_ENST00000378226.2_Frame_Shift_Ins_p.L360fs|BTBD3_ENST00000399006.2_Frame_Shift_Ins_p.L299fs|BTBD3_ENST00000254977.3_Frame_Shift_Ins_p.L299fs	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	360					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAAGCCTGAGCTTCAGTTTGT	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	Exception_encountered	20.37:g.11903822_11903823insGC	ENSP00000384545:p.Leu360fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW19|Q5JY73	Frame_Shift_Ins	INS	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.L359fs	ENST00000405977.1	37	c.1077_1078	CCDS13113.1	20																																																																																			BTBD3	-	NULL	ENSG00000132640		0.525	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD3	HGNC	protein_coding	OTTHUMT00000078021.3	124	0.00	0	-			11903822	11903823	+1	no_errors	ENST00000378226	ensembl	human	known	69_37n	frame_shift_ins	94	12.15	13	INS	1.000:0.956	GC
BTNL3	10917	genome.wustl.edu	37	5	180429772	180429772	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:180429772C>A	ENST00000342868.6	+	4	958	c.774C>A	c.(772-774)ttC>ttA	p.F258L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	258						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TAATTGTTTTCTTCAAATCCA	0.502																																						dbGAP											0													189.0	157.0	168.0					5																	180429772		1959	3847	5806	-	-	-	SO:0001583	missense	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.774C>A	5.37:g.180429772C>A	ENSP00000341787:p.Phe258Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496L7|Q9Y2C7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.F258L	ENST00000342868.6	37	c.774	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	C	1.751	-0.489137	0.04352	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.37752	1.18	2.71	1.8	0.24995	.	.	.	.	.	T	0.19765	0.0475	N	0.24115	0.695	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.08055	0.003;0.002	T	0.29852	-0.9998	9	0.10902	T	0.67	.	6.7095	0.23270	0.2816:0.7184:0.0:0.0	.	188;258	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	L	258;188	ENSP00000341787:F258L	ENSP00000341787:F258L	F	+	3	2	BTNL3	180362378	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	0.655000	0.24933	0.437000	0.26423	0.536000	0.68110	TTC	BTNL3	-	NULL	ENSG00000168903		0.502	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	375	0.00	0	C	NM_197975		180429772	180429772	+1	no_errors	ENST00000342868	ensembl	human	known	69_37n	missense	259	11.30	33	SNP	0.001	A
BTNL8	79908	genome.wustl.edu	37	5	180377039	180377039	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:180377039C>A	ENST00000340184.4	+	8	1204	c.998C>A	c.(997-999)tCt>tAt	p.S333Y	BTNL8_ENST00000511704.1_Missense_Mutation_p.S217Y|BTNL8_ENST00000505126.1_Missense_Mutation_p.S126Y|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.S208Y|BTNL8_ENST00000533815.2_Missense_Mutation_p.S149Y|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	333	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|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)			GTGGTGGCTTCTCAGAGTTTC	0.512																																						dbGAP											0													94.0	93.0	93.0					5																	180377039		2145	3948	6093	-	-	-	SO:0001583	missense	0			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.998C>A	5.37:g.180377039C>A	ENSP00000342197:p.Ser333Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.S333Y	ENST00000340184.4	37	c.998	CCDS43413.1	5	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999635	0.35320	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	1.89	0.858	0.19030	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.28333	0.0700	M	0.83312	2.635	0.09310	N	1	D;D;D	0.76494	0.995;0.985;0.999	D;P;D	0.87578	0.973;0.879;0.998	T	0.34229	-0.9837	9	0.02654	T	1	.	5.224	0.15383	0.0:0.7617:0.0:0.2383	.	208;217;333	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	Y	333;208;217;126;149	ENSP00000342197:S333Y;ENSP00000383543:S208Y;ENSP00000425207:S217Y;ENSP00000427441:S126Y;ENSP00000435098:S149Y	ENSP00000342197:S333Y	S	+	2	0	BTNL8	180309645	0.000000	0.05858	0.026000	0.17262	0.278000	0.26855	-0.466000	0.06672	0.072000	0.16694	0.430000	0.28490	TCT	BTNL8	-	superfamily_ConA-like_lec_gl,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000113303		0.512	BTNL8-002	KNOWN	basic|CCDS	protein_coding	BTNL8	HGNC	protein_coding	OTTHUMT00000368440.1	927	0.00	0	C	NM_024850		180377039	180377039	+1	no_errors	ENST00000340184	ensembl	human	known	69_37n	missense	633	10.97	78	SNP	0.288	A
BTNL3	10917	genome.wustl.edu	37	5	180432613	180432613	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:180432613G>A	ENST00000342868.6	+	8	1326	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TGGGTCCTCAGACTGACAACA	0.498																																						dbGAP											0													165.0	181.0	176.0					5																	180432613		2158	4248	6406	-	-	-	SO:0001583	missense	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1142G>A	5.37:g.180432613G>A	ENSP00000341787:p.Arg381Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496L7|Q9Y2C7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.R381K	ENST00000342868.6	37	c.1142	CCDS47358.1	5	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153564	0.21371	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.69685	-0.42	3.0	-3.56	0.04626	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.48484	0.1502	L	0.48174	1.505	0.09310	N	1	B;B	0.24317	0.101;0.007	B;B	0.25506	0.061;0.011	T	0.37150	-0.9718	9	0.12103	T	0.63	.	3.2533	0.06822	0.3056:0.0:0.3898:0.3046	.	347;381	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	K	381;347	ENSP00000341787:R381K	ENSP00000341787:R381K	R	+	2	0	BTNL3	180365219	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.057000	0.14279	-0.942000	0.03695	0.195000	0.17529	AGA	BTNL3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000168903		0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	497	0.00	0	G	NM_197975		180432613	180432613	+1	no_errors	ENST00000342868	ensembl	human	known	69_37n	missense	289	34.83	155	SNP	0.000	A
BUB1	699	genome.wustl.edu	37	2	111416309	111416309	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:111416309T>C	ENST00000302759.6	-	12	1405	c.1287A>G	c.(1285-1287)acA>acG	p.T429T	BUB1_ENST00000535254.1_Silent_p.T409T|BUB1_ENST00000409311.1_Silent_p.T429T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	429					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAACCTTATGTGTTTCACACC	0.408																																						dbGAP											0													178.0	154.0	162.0					2																	111416309		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1287A>G	2.37:g.111416309T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.T429	ENST00000302759.6	37	c.1287	CCDS33273.1	2																																																																																			BUB1	-	NULL	ENSG00000169679		0.408	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	482	0.00	0	T	NM_004336		111416309	111416309	-1	no_errors	ENST00000302759	ensembl	human	known	69_37n	silent	366	13.68	58	SNP	0.000	C
BUD13	84811	genome.wustl.edu	37	11	116633414	116633414	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:116633414C>T	ENST00000260210.4	-	4	914	c.891G>A	c.(889-891)aaG>aaA	p.K297K	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	297					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.K297N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTGGAGAAGTCTTGCTAGAGG	0.488																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											119.0	119.0	119.0					11																	116633414		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.891G>A	11.37:g.116633414C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0S0|Q96LS7	Missense_Mutation	SNP	NULL	p.D47N	ENST00000260210.4	37	c.139	CCDS8374.1	11																																																																																			BUD13	-	NULL	ENSG00000137656		0.488	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	244	0.41	1	C	NM_032725		116633414	116633414	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419189	ensembl	human	known	69_37n	missense	167	17.73	36	SNP	0.091	T
BVES	11149	genome.wustl.edu	37	6	105573279	105573279	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:105573279G>T	ENST00000314641.5	-	4	742	c.526C>A	c.(526-528)Ctc>Atc	p.L176I	BVES_ENST00000336775.5_Missense_Mutation_p.L176I|BVES_ENST00000446408.2_Missense_Mutation_p.L176I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	176					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CCCTTCAAGAGAATACTCAGA	0.408																																						dbGAP											0													140.0	143.0	142.0					6																	105573279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.526C>A	6.37:g.105573279G>T	ENSP00000313172:p.Leu176Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.L176I	ENST00000314641.5	37	c.526	CCDS5051.1	6	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434304	0.62955	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.39592	1.07;1.07;1.07	5.82	3.73	0.42828	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.54695	0.1874	M	0.82517	2.595	0.47584	D	0.999468	D	0.76494	0.999	D	0.76575	0.988	T	0.59166	-0.7505	10	0.44086	T	0.13	-13.7337	11.2377	0.48951	0.2172:0.0:0.7828:0.0	.	176	Q8NE79	POPD1_HUMAN	I	176	ENSP00000313172:L176I;ENSP00000337259:L176I;ENSP00000397310:L176I	ENSP00000313172:L176I	L	-	1	0	BVES	105679972	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.307000	0.72815	1.467000	0.48044	0.655000	0.94253	CTC	BVES	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000112276		0.408	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	136	0.73	1	G	NM_147147		105573279	105573279	-1	no_errors	ENST00000314641	ensembl	human	known	69_37n	missense	93	11.43	12	SNP	0.998	T
C10orf11	83938	genome.wustl.edu	37	10	77795833	77795833	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:77795833G>A	ENST00000372499.1	+	2	330	c.115G>A	c.(115-117)Gac>Aac	p.D39N	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	39					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TCAGCTGGGGGACGACCTTGT	0.542											OREG0020279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													179.0	148.0	159.0					10																	77795833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.115G>A	10.37:g.77795833G>A	ENSP00000361577:p.Asp39Asn	Somatic	1178	WXS	Illumina GAIIx	Phase_IV	B1AVW6	Missense_Mutation	SNP	NULL	p.D67N	ENST00000372499.1	37	c.199	CCDS7351.1	10	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114429	0.20795	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.34859	1.34	4.39	-0.0672	0.13761	.	0.319686	0.35466	N	0.003190	T	0.20455	0.0492	L	0.31804	0.96	0.31113	N	0.709738	B	0.14438	0.01	B	0.26770	0.073	T	0.15896	-1.0421	10	0.18276	T	0.48	-2.8497	4.7652	0.13128	0.399:0.1662:0.4348:0.0	.	39	Q9H2I8	CJ011_HUMAN	N	67;39	ENSP00000361577:D39N	ENSP00000346310:D67N	D	+	1	0	C10orf11	77465839	0.998000	0.40836	0.438000	0.26821	0.992000	0.81027	2.269000	0.43346	0.092000	0.17331	0.455000	0.32223	GAC	C10orf11	-	NULL	ENSG00000148655		0.542	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf11	HGNC	protein_coding	OTTHUMT00000048839.1	211	0.00	0	G	NM_032024		77795833	77795833	+1	no_errors	ENST00000354343	ensembl	human	known	69_37n	missense	158	14.97	28	SNP	0.983	A
CCDC186	55088	genome.wustl.edu	37	10	115891064	115891064	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115891064C>T	ENST00000369287.3	-	12	2209	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	C10orf118_ENST00000543782.1_Missense_Mutation_p.R246Q|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		648										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTCTTTTCGCAGTTCTTC	0.348																																						dbGAP											0													223.0	233.0	230.0					10																	115891064		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369287.3:c.1943G>A	10.37:g.115891064C>T	ENSP00000358293:p.Arg648Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R648Q	ENST00000369287.3	37	c.1943	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264231	0.59431	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T	0.26518	1.73	5.98	2.93	0.34026	.	0.119031	0.56097	N	0.000033	T	0.25158	0.0611	M	0.72894	2.215	0.23304	N	0.997949	B;B	0.18461	0.008;0.028	B;B	0.12156	0.003;0.007	T	0.18840	-1.0324	10	0.23891	T	0.37	.	9.0801	0.36547	0.0:0.7523:0.0:0.2477	.	246;648	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	Q	648;246;754	ENSP00000358293:R648Q	ENSP00000358293:R648Q	R	-	2	0	C10orf118	115881054	0.017000	0.18338	0.152000	0.22495	0.495000	0.33615	1.556000	0.36288	0.760000	0.33108	0.585000	0.79938	CGA	C10orf118	-	NULL	ENSG00000165813		0.348	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	377	0.00	0	C			115891064	115891064	-1	no_errors	ENST00000369287	ensembl	human	known	69_37n	missense	207	31.80	97	SNP	0.372	T
CCDC7	79741	genome.wustl.edu	37	10	33018264	33018264	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:33018264T>C	ENST00000375030.2	+	13	1347	c.729T>C	c.(727-729)ttT>ttC	p.F243F	C10orf68_ENST00000375028.3_Silent_p.F211F|C10orf68_ENST00000375025.4_Silent_p.F235F			Q9H943	CJ068_HUMAN		235										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATTTAGCGTTTCCTTTAGAAA	0.323																																						dbGAP											0													52.0	55.0	54.0					10																	33018264		2201	4292	6493	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000375030.2:c.729T>C	10.37:g.33018264T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ71|Q08AN7|Q8N7T7	Silent	SNP	NULL	p.F235	ENST00000375030.2	37	c.705		10																																																																																			C10orf68	-	NULL	ENSG00000150076		0.323	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	100	0.00	0	T			33018264	33018264	+1	no_errors	ENST00000375025	ensembl	human	known	69_37n	silent	64	12.33	9	SNP	0.109	C
C10orf128	170371	genome.wustl.edu	37	10	50363785	50363785	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50363785C>A	ENST00000474718.1	-	0	485				C10orf128_ENST00000374153.2_3'UTR	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						ACTGTATATTCTATTCCTTCT	0.428																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.*145G>T	10.37:g.50363785C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XND2|Q5T289|Q5T291	RNA	SNP	-	NULL	ENST00000474718.1	37	NULL	CCDS41519.1	10																																																																																			C10orf128	-	-	ENSG00000204161		0.428	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf128	HGNC	protein_coding	OTTHUMT00000047978.1	44	0.00	0	C	NM_001010863		50363785	50363785	-1	no_errors	ENST00000488276	ensembl	human	known	69_37n	rna	51	20.31	13	SNP	0.000	A
C10orf71	118461	genome.wustl.edu	37	10	50532196	50532196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50532196G>T	ENST00000374144.3	+	3	1894	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*	C10orf71_ENST00000323868.4_Nonsense_Mutation_p.E536*			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	536										endometrium(1)	1						TGGAAAGCAAGAACCTGTGAG	0.502																																						dbGAP											0													74.0	77.0	76.0					10																	50532196		2024	4172	6196	-	-	-	SO:0001587	stop_gained	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1606G>T	10.37:g.50532196G>T	ENSP00000363259:p.Glu536*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL8	Nonsense_Mutation	SNP	NULL	p.E536*	ENST00000374144.3	37	c.1606	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.949503	0.97134	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	.	.	.	5.52	5.52	0.82312	.	0.000000	0.36778	N	0.002414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.5467	0.45064	0.1183:0.0:0.8817:0.0	.	.	.	.	X	536	.	ENSP00000318713:E536X	E	+	1	0	C10orf71	50202202	1.000000	0.71417	0.320000	0.25306	0.278000	0.26855	1.593000	0.36686	2.586000	0.87340	0.591000	0.81541	GAA	C10orf71	-	NULL	ENSG00000177354		0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	168	0.00	0	G	NM_199459		50532196	50532196	+1	no_errors	ENST00000374144	ensembl	human	known	69_37n	nonsense	74	22.68	22	SNP	0.583	T
C10orf71	118461	genome.wustl.edu	37	10	50533651	50533651	+	Missense_Mutation	SNP	G	G	A	rs563008657	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50533651G>A	ENST00000374144.3	+	3	3349	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1021										endometrium(1)	1						ATGGCAGCCCGAAAACTGTTG	0.587													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													47.0	48.0	47.0					10																	50533651		692	1591	2283	-	-	-	SO:0001583	missense	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3061G>A	10.37:g.50533651G>A	ENSP00000363259:p.Glu1021Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL8	Missense_Mutation	SNP	NULL	p.E1021K	ENST00000374144.3	37	c.3061	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	G	3.019	-0.202119	0.06219	.	.	ENSG00000177354	ENST00000374144	T	0.04317	3.65	5.53	2.44	0.29823	.	0.655376	0.12606	N	0.454310	T	0.04543	0.0124	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.42396	-0.9454	8	0.09084	T	0.74	.	6.7673	0.23575	0.1681:0.4237:0.4082:0.0	.	.	.	.	K	1021	ENSP00000363259:E1021K	ENSP00000363259:E1021K	E	+	1	0	C10orf71	50203657	0.000000	0.05858	0.002000	0.10522	0.124000	0.20399	0.023000	0.13533	0.675000	0.31264	0.491000	0.48974	GAA	C10orf71	-	NULL	ENSG00000177354		0.587	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	150	0.00	0	G	NM_199459		50533651	50533651	+1	no_errors	ENST00000374144	ensembl	human	known	69_37n	missense	95	11.21	12	SNP	0.000	A
C10orf2	56652	genome.wustl.edu	37	10	102750681	102750681	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:102750681A>C	ENST00000311916.2	+	4	1833	c.1648A>C	c.(1648-1650)Aac>Cac	p.N550H	C10orf2_ENST00000370228.1_Missense_Mutation_p.N550H|C10orf2_ENST00000473656.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	550	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AACAGACAATAACTGCCATGT	0.488																																						dbGAP											0													178.0	171.0	173.0					10																	102750681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1648A>C	10.37:g.102750681A>C	ENSP00000309595:p.Asn550His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.N550H	ENST00000311916.2	37	c.1648	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650178	0.67472	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	T;D	0.94613	-0.4;-3.47	5.94	4.82	0.62117	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.306917	0.43579	D	0.000544	D	0.95404	0.8508	M	0.68952	2.095	0.24446	N	0.994505	P;P	0.44734	0.547;0.842	B;P	0.56514	0.346;0.8	D	0.90456	0.4442	10	0.62326	D	0.03	-17.8473	9.55	0.39304	0.9184:0.0:0.0816:0.0	.	550;550	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	H	550	ENSP00000309595:N550H;ENSP00000359248:N550H	ENSP00000309595:N550H	N	+	1	0	C10orf2	102740671	0.416000	0.25424	0.285000	0.24819	0.890000	0.51754	2.301000	0.43628	2.276000	0.75962	0.455000	0.32223	AAC	C10orf2	-	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	ENSG00000107815		0.488	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	108	0.00	0	A	NM_021830		102750681	102750681	+1	no_errors	ENST00000311916	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	0.939	C
CCDC186	55088	genome.wustl.edu	37	10	115905410	115905410	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115905410C>A	ENST00000369287.3	-	5	1265	c.999G>T	c.(997-999)gaG>gaT	p.E333D	C10orf118_ENST00000543782.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		333										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAAGTTTTTTCTCAAGTGTCT	0.368																																						dbGAP											0													205.0	191.0	196.0					10																	115905410		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369287.3:c.999G>T	10.37:g.115905410C>A	ENSP00000358293:p.Glu333Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E333D	ENST00000369287.3	37	c.999	CCDS7587.1	10	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712492	0.68730	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.53206	0.63	5.52	-0.919	0.10478	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.54437	-0.8294	10	0.40728	T	0.16	.	10.0296	0.42092	0.0:0.4614:0.0:0.5386	.	333	Q7Z3E2	CJ118_HUMAN	D	333;439	ENSP00000358293:E333D	ENSP00000358293:E333D	E	-	3	2	C10orf118	115895400	0.994000	0.37717	0.955000	0.39395	0.991000	0.79684	0.433000	0.21477	-0.215000	0.10063	0.650000	0.86243	GAG	C10orf118	-	NULL	ENSG00000165813		0.368	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	HGNC	protein_coding	OTTHUMT00000050455.1	758	0.00	0	C			115905410	115905410	-1	no_errors	ENST00000369287	ensembl	human	known	69_37n	missense	521	12.29	73	SNP	1.000	A
C10orf82	143379	genome.wustl.edu	37	10	118425226	118425226	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:118425226A>C	ENST00000369210.3	-	3	221	c.167T>G	c.(166-168)tTg>tGg	p.L56W	C10orf82_ENST00000588184.1_Missense_Mutation_p.L56W	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	56										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		TGCGCAGCACAATTCCCGCAG	0.547																																						dbGAP											0													115.0	107.0	110.0					10																	118425226		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.167T>G	10.37:g.118425226A>C	ENSP00000358212:p.Leu56Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUM9|D3DRC3	Missense_Mutation	SNP	NULL	p.L56W	ENST00000369210.3	37	c.167	CCDS7596.1	10	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410407	0.62399	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.50813	0.73	5.16	5.16	0.70880	.	0.593695	0.14350	N	0.325106	T	0.55768	0.1941	L	0.46157	1.445	0.09310	N	1	D;D	0.69078	0.977;0.997	P;P	0.56960	0.735;0.81	T	0.50285	-0.8846	10	0.72032	D	0.01	-0.4613	11.3861	0.49787	1.0:0.0:0.0:0.0	.	56;56	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	W	56	ENSP00000358212:L56W	ENSP00000358212:L56W	L	-	2	0	C10orf82	118415216	0.059000	0.20769	0.002000	0.10522	0.011000	0.07611	4.622000	0.61240	1.940000	0.56252	0.459000	0.35465	TTG	C10orf82	-	NULL	ENSG00000165863		0.547	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050527.1	116	0.00	0	A	NM_144661		118425226	118425226	-1	no_errors	ENST00000588184	ensembl	human	known	69_37n	missense	62	24.39	20	SNP	0.005	C
C10orf90	118611	genome.wustl.edu	37	10	128192743	128192743	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:128192743A>C	ENST00000284694.7	-	3	1146	c.1026T>G	c.(1024-1026)agT>agG	p.S342R	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000392694.1_Missense_Mutation_p.S295R|C10orf90_ENST00000356858.3_Missense_Mutation_p.S295R|C10orf90_ENST00000454341.1_Missense_Mutation_p.S342R|C10orf90_ENST00000544758.1_Missense_Mutation_p.S439R	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	342					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCTTCAAGTGACTTTCTTGTA	0.532											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													69.0	68.0	68.0					10																	128192743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1026T>G	10.37:g.128192743A>C	ENSP00000284694:p.Ser342Arg	Somatic	1563	WXS	Illumina GAIIx	Phase_IV	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.S439R	ENST00000284694.7	37	c.1317	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	A	17.79	3.476032	0.63737	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.24908	2.14;2.14;2.15;2.14;1.83	5.14	-2.87	0.05700	.	0.409242	0.23622	N	0.046229	T	0.36082	0.0954	L	0.47716	1.5	0.09310	N	1	B;D;D;D;B	0.76494	0.114;0.995;0.999;0.986;0.043	B;D;D;P;B	0.67548	0.047;0.914;0.952;0.858;0.047	T	0.29731	-1.0002	10	0.72032	D	0.01	-0.051	11.8086	0.52169	0.4591:0.0:0.5409:0.0	.	439;439;295;342;342	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	R	295;342;342;439;342;295;295	ENSP00000284694:S342R;ENSP00000398786:S342R;ENSP00000444369:S439R;ENSP00000405995:S342R;ENSP00000376459:S295R	ENSP00000284694:S342R	S	-	3	2	C10orf90	128182733	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.292000	0.08332	-0.804000	0.04410	-0.256000	0.11100	AGT	C10orf90	-	NULL	ENSG00000154493		0.532	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		227	0.44	1	A	NM_001004298		128192743	128192743	-1	no_errors	ENST00000544758	ensembl	human	known	69_37n	missense	119	12.50	17	SNP	0.000	C
BTBD18	643376	genome.wustl.edu	37	11	57509323	57509323	+	IGR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:57509323C>T	ENST00000436147.3	-	0	2947				C11orf31_ENST00000388857.4_Silent_p.S55S|C11orf31_ENST00000534355.1_Silent_p.S55S|RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18											endometrium(3)|kidney(1)	4						CGGCCCTGAGCCAGGCGCTGC	0.701																																						dbGAP											0													8.0	10.0	9.0					11																	57509323		1788	4027	5815	-	-	-	SO:0001628	intergenic_variant	0				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203		11.37:g.57509323C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.P27S	ENST00000436147.3	37	c.79	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785361	0.31593	.	.	ENSG00000211450	ENST00000528798	.	.	.	5.28	4.37	0.52481	.	.	.	.	.	T	0.62073	0.2398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58278	-0.7664	4	.	.	.	-12.0609	10.8411	0.46715	0.0:0.8378:0.0:0.1622	.	.	.	.	S	27	.	.	P	+	1	0	C11orf31	57265899	0.992000	0.36948	1.000000	0.80357	0.985000	0.73830	0.558000	0.23469	0.808000	0.34231	-0.797000	0.03246	CCA	C11orf31	-	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	ENSG00000211450		0.701	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf31	HGNC	protein_coding	OTTHUMT00000393718.2	60	0.00	0	C	NM_001145101		57509323	57509323	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000528798	ensembl	human	known	69_37n	missense	48	28.36	19	SNP	0.999	T
MYRF	745	genome.wustl.edu	37	11	61538993	61538993	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:61538993G>A	ENST00000278836.5	+	6	858	c.762G>A	c.(760-762)aaG>aaA	p.K254K	MYRF_ENST00000327797.1_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.K245K	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	254	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACCCCTCCAAGAAGAGGAAGC	0.622																																						dbGAP											0													59.0	66.0	64.0					11																	61538993		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.762G>A	11.37:g.61538993G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.K254	ENST00000278836.5	37	c.762	CCDS44622.1	11																																																																																			C11orf9	-	NULL	ENSG00000124920		0.622	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf9	HGNC	protein_coding	OTTHUMT00000398519.2	33	0.00	0	G	NM_013279		61538993	61538993	+1	no_errors	ENST00000278836	ensembl	human	known	69_37n	silent	14	30.00	6	SNP	1.000	A
C11orf70	85016	genome.wustl.edu	37	11	101952056	101952056	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101952056T>G	ENST00000434758.2	+	6	703				C11orf70_ENST00000526781.1_Missense_Mutation_p.F240C	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70											breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTAATTACTTTTTATTAATAG	0.294																																						dbGAP											0													37.0	39.0	38.0					11																	101952056		2202	4288	6490	-	-	-	SO:0001627	intron_variant	0			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.675+44T>G	11.37:g.101952056T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PJU1	Missense_Mutation	SNP	NULL	p.F240C	ENST00000434758.2	37	c.719	CCDS8313.2	11	.	.	.	.	.	.	.	.	.	.	T	4.794	0.147621	0.09134	.	.	ENSG00000137691	ENST00000526781	.	.	.	5.26	-5.37	0.02681	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	.	0.1101	0.00055	0.314:0.2262:0.2151:0.2447	.	.	.	.	C	240	.	.	F	+	2	0	C11orf70	101457266	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.839000	0.04368	-0.852000	0.04141	-0.644000	0.03951	TTT	C11orf70	-	NULL	ENSG00000137691		0.294	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf70	HGNC	protein_coding	OTTHUMT00000394144.1	150	0.00	0	T	NM_032930		101952056	101952056	+1	no_errors	ENST00000526781	ensembl	human	putative	69_37n	missense	94	16.81	19	SNP	0.000	G
C11orf45	219833	genome.wustl.edu	37	11	128774420	128774420	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:128774420C>T	ENST00000524878.1	-	2	212	c.42G>A	c.(40-42)acG>acA	p.T14T	C11orf45_ENST00000530168.1_5'Flank|KCNJ5_ENST00000338350.4_Intron|C11orf45_ENST00000310799.3_Silent_p.T14T|KCNJ5_ENST00000529694.1_Intron			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	14						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gcggagaGGTCGtgctactca	0.582																																						dbGAP											0													112.0	90.0	97.0					11																	128774420		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.42G>A	11.37:g.128774420C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAD0	Silent	SNP	NULL	p.T14	ENST00000524878.1	37	c.42	CCDS8478.1	11																																																																																			C11orf45	-	NULL	ENSG00000174370		0.582	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	C11orf45	HGNC	protein_coding	OTTHUMT00000386243.1	61	0.00	0	C	NM_145013		128774420	128774420	-1	no_errors	ENST00000310799	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	0.000	T
C12orf40	283461	genome.wustl.edu	37	12	40040215	40040215	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:40040215C>T	ENST00000324616.5	+	4	441	c.287C>T	c.(286-288)tCg>tTg	p.S96L	C12orf40_ENST00000398716.1_Missense_Mutation_p.S19L|C12orf40_ENST00000405531.3_Missense_Mutation_p.S96L	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	96										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTTACAATGTCGCCTCACTGT	0.323																																						dbGAP											0													141.0	137.0	139.0					12																	40040215		1830	4084	5914	-	-	-	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.287C>T	12.37:g.40040215C>T	ENSP00000317671:p.Ser96Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.S96L	ENST00000324616.5	37	c.287	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007763	0.54361	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.58210	0.35;0.36	5.35	5.35	0.76521	.	0.000000	0.39274	N	0.001412	T	0.61800	0.2376	L	0.29908	0.895	0.28912	N	0.892652	D	0.89917	1.0	D	0.87578	0.998	T	0.60021	-0.7344	10	0.87932	D	0	.	14.9176	0.70810	0.0:1.0:0.0:0.0	.	96	Q86WS4	CL040_HUMAN	L	96;19;96	ENSP00000383897:S96L;ENSP00000317671:S96L	ENSP00000317671:S96L	S	+	2	0	C12orf40	38326482	0.996000	0.38824	0.996000	0.52242	0.092000	0.18411	4.081000	0.57627	2.667000	0.90743	0.650000	0.86243	TCG	C12orf40	-	NULL	ENSG00000180116		0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	365	0.00	0	C	NM_173599		40040215	40040215	+1	no_errors	ENST00000324616	ensembl	human	known	69_37n	missense	142	36.89	83	SNP	0.995	T
C12orf40	283461	genome.wustl.edu	37	12	40085854	40085854	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:40085854C>T	ENST00000324616.5	+	11	1505	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	C12orf40_ENST00000405531.3_Silent_p.L451L	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	451										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTCCTAGATTCTGATGGAAGA	0.254																																						dbGAP											0													29.0	29.0	29.0					12																	40085854		1775	3975	5750	-	-	-	SO:0001819	synonymous_variant	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1351C>T	12.37:g.40085854C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.L451	ENST00000324616.5	37	c.1351	CCDS41770.1	12																																																																																			C12orf40	-	NULL	ENSG00000180116		0.254	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	130	0.00	0	C	NM_173599		40085854	40085854	+1	no_errors	ENST00000324616	ensembl	human	known	69_37n	silent	68	28.42	27	SNP	0.064	T
C12orf50	160419	genome.wustl.edu	37	12	88388501	88388501	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:88388501C>T	ENST00000298699.2	-	7	681	c.501G>A	c.(499-501)ccG>ccA	p.P167P	C12orf50_ENST00000550553.1_Silent_p.P167P	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	167										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAAGTTTTGTCGGAACTGTAA	0.328																																						dbGAP											0													142.0	129.0	133.0					12																	88388501		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.501G>A	12.37:g.88388501C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P674	Silent	SNP	NULL	p.P167	ENST00000298699.2	37	c.501	CCDS9031.1	12																																																																																			C12orf50	-	NULL	ENSG00000165805		0.328	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	382	0.00	0	C	NM_152589		88388501	88388501	-1	no_errors	ENST00000298699	ensembl	human	known	69_37n	silent	291	11.52	38	SNP	0.999	T
CFAP54	144535	genome.wustl.edu	37	12	97093794	97093794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:97093794G>T	ENST00000524981.4	+	46	6420	c.6397G>T	c.(6397-6399)Gag>Tag	p.E2133*				Q96N23	CL055_HUMAN		0																	AGCCTTTTATGAGATATCCCA	0.318																																						dbGAP											0													72.0	80.0	77.0					12																	97093794		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000524981.4:c.6397G>T	12.37:g.97093794G>T	ENSP00000431759:p.Glu2133*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E558*	ENST00000524981.4	37	c.1672		12	.	.	.	.	.	.	.	.	.	.	G	45	11.973416	0.99623	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.96	5.96	0.96718	.	0.062739	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-24.6648	18.983	0.92761	0.0:0.0:1.0:0.0	.	.	.	.	X	2133;558	.	ENSP00000345466:E558X	E	+	1	0	C12orf63	95617925	1.000000	0.71417	0.998000	0.56505	0.173000	0.22820	6.026000	0.70873	2.831000	0.97527	0.650000	0.86243	GAG	C12orf55	-	NULL	ENSG00000188596		0.318	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	123	0.00	0	G			97093794	97093794	+1	no_errors	ENST00000342887	ensembl	human	known	69_37n	nonsense	122	15.28	22	SNP	1.000	T
SMCO3	440087	genome.wustl.edu	37	12	14959392	14959392	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:14959392T>C	ENST00000316048.2	-	2	295	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	C12orf60_ENST00000527783.1_Intron|WBP11_ENST00000261167.2_5'Flank|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	75			K -> R (in dbSNP:rs2241221).			integral component of membrane (GO:0016021)											TTTTGGATTTTCATAATGGCT	0.408																																						dbGAP											0													174.0	160.0	165.0					12																	14959392		1874	4109	5983	-	-	-	SO:0001583	missense	0				CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.223A>G	12.37:g.14959392T>C	ENSP00000381895:p.Lys75Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAI5	Missense_Mutation	SNP	NULL	p.K75E	ENST00000316048.2	37	c.223	CCDS41759.1	12	.	.	.	.	.	.	.	.	.	.	T	3.154	-0.173610	0.06421	.	.	ENSG00000179256	ENST00000316048	T	0.10860	2.83	5.1	-3.49	0.04724	.	0.545806	0.14928	N	0.290257	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43972	-0.9358	10	0.09338	T	0.73	-17.6099	6.3971	0.21618	0.0:0.4002:0.1401:0.4596	.	75	A2RU48	CL069_HUMAN	E	75	ENSP00000381895:K75E	ENSP00000381895:K75E	K	-	1	0	C12orf69	14850659	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.059000	0.11731	-0.858000	0.04110	-1.162000	0.01777	AAA	C12orf69	-	NULL	ENSG00000179256		0.408	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf69	HGNC	protein_coding	OTTHUMT00000394738.1	284	0.00	0	T	NM_001013698		14959392	14959392	-1	no_errors	ENST00000316048	ensembl	human	known	69_37n	missense	164	14.51	28	SNP	0.000	C
C12orf71	728858	genome.wustl.edu	37	12	27235380	27235380	+	Missense_Mutation	SNP	C	C	T	rs374505766		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:27235380C>T	ENST00000429849.2	-	1	67	c.37G>A	c.(37-39)Gac>Aac	p.D13N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	13										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TTGGAGCTGTCGTCCTCTATG	0.458																																						dbGAP											0													34.0	32.0	33.0					12																	27235380		1873	4113	5986	-	-	-	SO:0001583	missense	0				CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.37G>A	12.37:g.27235380C>T	ENSP00000413728:p.Asp13Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D13N	ENST00000429849.2	37	c.37	CCDS44851.1	12	.	.	.	.	.	.	.	.	.	.	C	6.187	0.402581	0.11696	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.42900	0.96	2.92	-1.77	0.07982	.	7.634450	0.00864	U	0.001946	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.09164	-1.0687	10	0.25106	T	0.35	7.5485	3.2163	0.06700	0.362:0.2194:0.0:0.4186	.	13	A8MTZ7	CL071_HUMAN	N	13	ENSP00000413728:D13N	ENSP00000381796:D13N	D	-	1	0	C12orf71	27126647	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.715000	0.04997	-0.055000	0.13244	-0.446000	0.05623	GAC	C12orf71	-	NULL	ENSG00000214700		0.458	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf71	HGNC	protein_coding	OTTHUMT00000403258.1	76	0.00	0	C	NM_001080406		27235380	27235380	-1	no_errors	ENST00000429849	ensembl	human	known	69_37n	missense	96	15.04	17	SNP	0.000	T
CFAP54	144535	genome.wustl.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	C	T	rs537859109		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:97157951C>T	ENST00000524981.4	+	59	8086	c.8063C>T	c.(8062-8064)tCt>tTt	p.S2688F				Q96N23	CL055_HUMAN		0																	AGAAGTAGTTCTGTTAAAGAA	0.333																																						dbGAP											0													114.0	113.0	113.0					12																	97157951		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000524981.4:c.8063C>T	12.37:g.97157951C>T	ENSP00000431759:p.Ser2688Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S1113F	ENST00000524981.4	37	c.3338		12	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103286	0.56183	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.48	3.6	0.41247	.	0.493383	0.18902	N	0.128011	T	0.38957	0.1060	L	0.54323	1.7	0.09310	N	1	P	0.50066	0.931	P	0.50590	0.645	T	0.28586	-1.0039	9	0.72032	D	0.01	-15.5806	4.8034	0.13308	0.1561:0.6114:0.1509:0.0815	.	1113	Q6ZTY8	CL063_HUMAN	F	2688;1113	.	ENSP00000345466:S1113F	S	+	2	0	C12orf63	95682082	0.942000	0.31987	0.962000	0.40283	0.206000	0.24218	1.497000	0.35649	1.264000	0.44198	0.561000	0.74099	TCT	C12orf55	-	NULL	ENSG00000188596		0.333	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	491	0.00	0	C			97157951	97157951	+1	no_errors	ENST00000342887	ensembl	human	known	69_37n	missense	294	27.34	111	SNP	0.034	T
MEDAG	84935	genome.wustl.edu	37	13	31495811	31495811	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:31495811C>A	ENST00000380482.4	+	4	940	c.615C>A	c.(613-615)ttC>ttA	p.F205L	TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000592950.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	205					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											TTGATTTCTTCTATTGGTTTG	0.348																																						dbGAP											0													86.0	88.0	87.0					13																	31495811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"""mesenteric estrogen-dependent adipose 4"", ""activated in W/Wv mouse stomach 3 homolog"""		"""chromosome 13 open reading frame 33"""	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.615C>A	13.37:g.31495811C>A	ENSP00000369849:p.Phe205Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXF1|Q96K26|Q96NC8	Missense_Mutation	SNP	NULL	p.F205L	ENST00000380482.4	37	c.615	CCDS9338.1	13	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251231	0.22880	.	.	ENSG00000102802	ENST00000380482	T	0.44881	0.91	5.33	5.33	0.75918	.	0.164042	0.56097	D	0.000034	T	0.48978	0.1530	L	0.29908	0.895	0.34179	D	0.670721	D	0.56035	0.974	D	0.70487	0.969	T	0.60052	-0.7338	10	0.49607	T	0.09	-19.8144	10.0994	0.42495	0.0:0.9087:0.0:0.0913	.	205	Q5VYS4	CM033_HUMAN	L	205	ENSP00000369849:F205L	ENSP00000369849:F205L	F	+	3	2	C13orf33	30393811	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.018000	0.30002	2.509000	0.84616	0.462000	0.41574	TTC	C13orf33	-	NULL	ENSG00000102802		0.348	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C13orf33	HGNC	protein_coding	OTTHUMT00000044375.1	474	0.00	0	C	NM_032849		31495811	31495811	+1	no_errors	ENST00000380482	ensembl	human	known	69_37n	missense	378	10.21	43	SNP	1.000	A
TMEM260	54916	genome.wustl.edu	37	14	57083910	57083910	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:57083910G>T	ENST00000261556.6	+	9	1073	c.951G>T	c.(949-951)caG>caT	p.Q317H	TMEM260_ENST00000538838.1_Missense_Mutation_p.Q317H|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	317						integral component of membrane (GO:0016021)											GGGACAGACAGAATCCATCAT	0.269																																						dbGAP											0													123.0	115.0	117.0					14																	57083910		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.951G>T	14.37:g.57083910G>T	ENSP00000261556:p.Gln317His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.Q317H	ENST00000261556.6	37	c.951	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824113	0.02755	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.46063	1.46;0.88	5.64	2.2	0.27929	.	0.493156	0.23789	N	0.044549	T	0.35970	0.0950	L	0.53249	1.67	0.19575	N	0.999966	B	0.30709	0.291	B	0.31191	0.125	T	0.18745	-1.0327	10	0.27785	T	0.31	-12.4731	11.734	0.51755	0.2987:0.0:0.7013:0.0	.	317	Q9NX78	CN101_HUMAN	H	317	ENSP00000261556:Q317H;ENSP00000441934:Q317H	ENSP00000261556:Q317H	Q	+	3	2	C14orf101	56153663	0.001000	0.12720	0.774000	0.31636	0.064000	0.16182	0.765000	0.26546	0.669000	0.31146	0.563000	0.77884	CAG	C14orf101	-	NULL	ENSG00000070269		0.269	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf101	HGNC	protein_coding	OTTHUMT00000276924.1	252	0.00	0	G	NM_017799		57083910	57083910	+1	no_errors	ENST00000261556	ensembl	human	known	69_37n	missense	149	21.58	41	SNP	0.009	T
GPATCH2L	55668	genome.wustl.edu	37	14	76647162	76647162	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:76647162G>A	ENST00000261530.7	+	8	1229	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.R383Q|GPATCH2L_ENST00000553588.1_Missense_Mutation_p.E9K|GPATCH2L_ENST00000556675.1_3'UTR	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	388																	GCTTCTCACCGAAGGTGTTCA	0.428																																						dbGAP											0													234.0	204.0	214.0					14																	76647162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1163G>A	14.37:g.76647162G>A	ENSP00000261530:p.Arg388Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.R388Q	ENST00000261530.7	37	c.1163	CCDS9848.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.492007|4.492007	0.84962|0.84962	.|.	.|.	ENSG00000089916|ENSG00000089916	ENST00000336993;ENST00000554799;ENST00000553588|ENST00000312858;ENST00000261530	.|T;T	.|0.52526	.|0.66;0.78	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.601212	.|0.15126	.|N	.|0.279093	T|T	0.64349|0.64349	0.2590|0.2590	L|L	0.46157|0.46157	1.445|1.445	0.35991|0.35991	D|D	0.836672|0.836672	.|D;D	.|0.71674	.|0.997;0.998	.|D;P	.|0.69479	.|0.964;0.801	T|T	0.68557|0.68557	-0.5377|-0.5377	6|10	0.66056|0.66056	D|D	0.02|0.02	-63.8455|-63.8455	18.2217|18.2217	0.89904|0.89904	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|383;388	.|Q9NWQ4-4;Q9NWQ4	.|.;CN118_HUMAN	K|Q	382;9;9|383;388	.|ENSP00000323775:R383Q;ENSP00000261530:R388Q	ENSP00000337200:E382K|ENSP00000261530:R388Q	E|R	+|+	1|2	0|0	C14orf118|C14orf118	75716915|75716915	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.248000|0.248000	0.25809|0.25809	6.488000|6.488000	0.73637|0.73637	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	GAA|CGA	C14orf118	-	NULL	ENSG00000089916		0.428	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	C14orf118	HGNC	protein_coding	OTTHUMT00000413698.2	542	0.00	0	G	NM_017926		76647162	76647162	+1	no_errors	ENST00000261530	ensembl	human	known	69_37n	missense	381	12.61	55	SNP	1.000	A
LRRC74A	145497	genome.wustl.edu	37	14	77297635	77297635	+	Missense_Mutation	SNP	C	C	T	rs377584165		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:77297635C>T	ENST00000393774.3	+	3	431	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.R86W	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CTACTTCATTCGGAACATGGA	0.537																																					Ovarian(165;1056 1958 32571 36789 48728)	dbGAP											0													138.0	116.0	123.0					14																	77297635		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000393774.3:c.307C>T	14.37:g.77297635C>T	ENSP00000377369:p.Arg103Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R103W	ENST00000393774.3	37	c.307	CCDS9853.2	14	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954639	0.73902	.	.	ENSG00000100565	ENST00000393774;ENST00000450042	T;T	0.54071	0.59;2.25	5.66	4.69	0.59074	.	0.056688	0.64402	D	0.000001	T	0.77116	0.4083	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82080	-0.0634	10	0.87932	D	0	.	15.3738	0.74587	0.1483:0.8517:0.0:0.0	.	103	Q0VAA2	CN16B_HUMAN	W	103;86	ENSP00000377369:R103W;ENSP00000396260:R86W	ENSP00000216450:R103W	R	+	1	2	C14orf166B	76367388	0.886000	0.30341	0.991000	0.47740	0.935000	0.57460	1.588000	0.36633	2.682000	0.91365	0.555000	0.69702	CGG	C14orf166B	-	NULL	ENSG00000100565		0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf166B	HGNC	protein_coding	OTTHUMT00000316592.1	183	0.00	0	C			77297635	77297635	+1	no_errors	ENST00000393774	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	0.795	T
C14orf93	60686	genome.wustl.edu	37	14	23457128	23457128	+	Missense_Mutation	SNP	C	C	T	rs17851131		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:23457128C>T	ENST00000299088.6	-	6	1610	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	C14orf93_ENST00000397382.4_Missense_Mutation_p.R394Q|C14orf93_ENST00000397379.3_Missense_Mutation_p.R394Q|C14orf93_ENST00000406429.2_Missense_Mutation_p.R394Q|C14orf93_ENST00000341470.4_Missense_Mutation_p.R394Q|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.R214Q|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	394				R -> L (in Ref. 5; AAH14299). {ECO:0000305}.		extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCGGCGACTTCGAAGTTTCTT	0.488																																						dbGAP											0													102.0	99.0	100.0					14																	23457128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1181G>A	14.37:g.23457128C>T	ENSP00000299088:p.Arg394Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	NULL	p.R394Q	ENST00000299088.6	37	c.1181	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	c	21.9	4.213005	0.79352	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.17	5.17	0.71159	.	0.114268	0.34959	N	0.003542	T	0.50650	0.1628	N	0.08118	0	0.39357	D	0.96585	D;D	0.89917	0.998;1.0	D;D	0.81914	0.979;0.995	T	0.63834	-0.6547	10	0.72032	D	0.01	-31.0344	17.4752	0.87658	0.0:1.0:0.0:0.0	.	394;394	Q9H972;Q9H972-2	CN093_HUMAN;.	Q	394;394;394;394;214;394	ENSP00000299088:R394Q;ENSP00000341353:R394Q;ENSP00000380535:R394Q;ENSP00000380538:R394Q;ENSP00000380533:R214Q;ENSP00000384768:R394Q	ENSP00000299088:R394Q	R	-	2	0	C14orf93	22526968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.041000	0.64196	2.415000	0.81967	0.645000	0.84053	CGA	C14orf93	-	NULL	ENSG00000100802		0.488	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	222	0.00	0	C	NM_021944		23457128	23457128	-1	no_errors	ENST00000299088	ensembl	human	known	69_37n	missense	132	12.00	18	SNP	1.000	T
C14orf182	283551	genome.wustl.edu	37	14	50472229	50472229	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:50472229G>A	ENST00000529902.1	-	0	1008				C14orf182_ENST00000399206.1_Intron			A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182											large_intestine(2)|urinary_tract(1)	3						CTGAGGCCCCGAAGCAGCAGA	0.517																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000529902.1:c.-3271C>T	14.37:g.50472229G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYX4	RNA	SNP	-	NULL	ENST00000529902.1	37	NULL		14																																																																																			C14orf182	-	-	ENSG00000214900		0.517	C14orf182-004	KNOWN	basic	processed_transcript	C14orf182	HGNC	protein_coding	OTTHUMT00000395721.1	55	0.00	0	G	NM_001012706		50472229	50472229	-1	no_errors	ENST00000529902	ensembl	human	known	69_37n	rna	29	17.14	6	SNP	0.000	A
C14orf37	145407	genome.wustl.edu	37	14	58599889	58599889	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:58599889A>G	ENST00000267485.7	-	3	1734	c.1540T>C	c.(1540-1542)Tca>Cca	p.S514P	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	514						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CATCTTCTTGACAGCTGAGTA	0.498																																						dbGAP											0													111.0	112.0	112.0					14																	58599889		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1540T>C	14.37:g.58599889A>G	ENSP00000267485:p.Ser514Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.S514P	ENST00000267485.7	37	c.1540	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	A	9.110	1.006360	0.19199	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.23147	1.92	5.49	1.96	0.26148	.	0.135027	0.37437	N	0.002096	T	0.15869	0.0382	L	0.31664	0.95	0.09310	N	1	B;B;B;B	0.23735	0.015;0.09;0.015;0.015	B;B;B;B	0.23419	0.027;0.046;0.027;0.027	T	0.14980	-1.0453	10	0.37606	T	0.19	-0.7157	6.6939	0.23187	0.7458:0.0:0.2542:0.0	.	552;514;514;514	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	P	514;552	ENSP00000267485:S514P	ENSP00000267485:S514P	S	-	1	0	C14orf37	57669642	0.000000	0.05858	0.141000	0.22245	0.627000	0.37826	-0.094000	0.11094	0.906000	0.36621	0.460000	0.39030	TCA	C14orf37	-	NULL	ENSG00000139971		0.498	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	122	0.00	0	A	NM_001001872		58599889	58599889	-1	no_errors	ENST00000267485	ensembl	human	known	69_37n	missense	89	10.10	10	SNP	0.022	G
CCDC175	729665	genome.wustl.edu	37	14	60018123	60018123	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60018123C>A	ENST00000537690.2	-	8	1040	c.985G>T	c.(985-987)Gat>Tat	p.D329Y	CCDC175_ENST00000281581.4_Missense_Mutation_p.D329Y|CCDC175_ENST00000556996.1_5'UTR	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	329																	GATATATCATCTAGTTTTTCT	0.294																																						dbGAP											0													123.0	110.0	114.0					14																	60018123		692	1588	2280	-	-	-	SO:0001583	missense	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.985G>T	14.37:g.60018123C>A	ENSP00000453940:p.Asp329Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.D329Y	ENST00000537690.2	37	c.985	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516851	0.27123	.	.	ENSG00000151838	ENST00000555041	.	.	.	3.95	1.03	0.20045	.	1.598840	0.03784	N	0.261805	T	0.35128	0.0921	L	0.32530	0.975	0.09310	N	1	.	.	.	.	.	.	T	0.27536	-1.0071	6	.	.	.	-0.5796	6.7241	0.23346	0.0:0.7133:0.0:0.2867	.	.	.	.	Y	329	.	.	D	-	1	0	C14orf38	59087876	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.066000	0.14489	0.219000	0.20840	-0.258000	0.10820	GAT	C14orf38	-	superfamily_Prefoldin	ENSG00000151838		0.294	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf38	HGNC	protein_coding	OTTHUMT00000471273.1	594	0.00	0	C	NM_001164399		60018123	60018123	-1	no_errors	ENST00000281581	ensembl	human	known	69_37n	missense	262	25.99	92	SNP	0.000	A
C14orf39	317761	genome.wustl.edu	37	14	60921799	60921799	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60921799G>T	ENST00000321731.3	-	16	1582	c.1423C>A	c.(1423-1425)Ctt>Att	p.L475I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	475					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TAACTCATAAGAAAAGAAAGT	0.308																																						dbGAP											0													55.0	61.0	59.0					14																	60921799		2202	4288	6490	-	-	-	SO:0001583	missense	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1423C>A	14.37:g.60921799G>T	ENSP00000324920:p.Leu475Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Missense_Mutation	SNP	NULL	p.L475I	ENST00000321731.3	37	c.1423	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158703	0.38119	.	.	ENSG00000179008	ENST00000321731	T	0.29142	1.58	5.84	1.92	0.25849	.	0.222920	0.30151	N	0.010285	T	0.19208	0.0461	L	0.35723	1.085	0.27946	N	0.937345	B	0.23249	0.082	B	0.22601	0.04	T	0.14727	-1.0462	9	.	.	.	-3.2034	5.1562	0.15036	0.1533:0.0:0.5535:0.2932	.	475	Q8N1H7	S6OS1_HUMAN	I	475	ENSP00000324920:L475I	.	L	-	1	0	C14orf39	59991552	0.978000	0.34361	0.644000	0.29465	0.985000	0.73830	0.878000	0.28126	0.363000	0.24346	0.561000	0.74099	CTT	C14orf39	-	NULL	ENSG00000179008		0.308	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	235	0.00	0	G	NM_174978		60921799	60921799	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	missense	111	28.85	45	SNP	0.832	T
C14orf39	317761	genome.wustl.edu	37	14	60923745	60923745	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60923745C>A	ENST00000321731.3	-	15	1407	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	416					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GTGGAAAATTCTCAGCTCTCT	0.358																																						dbGAP											0													91.0	104.0	99.0					14																	60923745		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1248G>T	14.37:g.60923745C>A	ENSP00000324920:p.Glu416Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Missense_Mutation	SNP	NULL	p.E416D	ENST00000321731.3	37	c.1248	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166274	0.21621	.	.	ENSG00000179008	ENST00000321731	T	0.46819	0.86	5.32	-0.0246	0.13938	.	0.161766	0.43579	N	0.000553	T	0.36166	0.0957	L	0.59436	1.845	0.28184	N	0.928035	B	0.09022	0.002	B	0.14578	0.011	T	0.27571	-1.0070	10	0.56958	D	0.05	-2.9063	3.3453	0.07133	0.1799:0.4212:0.0:0.3988	.	416	Q8N1H7	S6OS1_HUMAN	D	416	ENSP00000324920:E416D	ENSP00000324920:E416D	E	-	3	2	C14orf39	59993498	0.678000	0.27586	0.880000	0.34516	0.012000	0.07955	-0.749000	0.04813	0.089000	0.17243	0.563000	0.77884	GAG	C14orf39	-	NULL	ENSG00000179008		0.358	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	228	0.00	0	C	NM_174978		60923745	60923745	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	missense	130	10.96	16	SNP	0.904	A
C14orf39	317761	genome.wustl.edu	37	14	60938454	60938454	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60938454T>C	ENST00000321731.3	-	6	486	c.327A>G	c.(325-327)gaA>gaG	p.E109E		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	109					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CATGATACATTTCTCTGTTAA	0.269																																						dbGAP											0													46.0	47.0	47.0					14																	60938454		2195	4279	6474	-	-	-	SO:0001819	synonymous_variant	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.327A>G	14.37:g.60938454T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Silent	SNP	NULL	p.E109	ENST00000321731.3	37	c.327	CCDS9746.1	14																																																																																			C14orf39	-	NULL	ENSG00000179008		0.269	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	260	0.00	0	T	NM_174978		60938454	60938454	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	silent	164	30.38	72	SNP	1.000	C
C14orf39	317761	genome.wustl.edu	37	14	60951607	60951607	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60951607C>A	ENST00000321731.3	-	3	257	c.98G>T	c.(97-99)aGa>aTa	p.R33I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	33					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACTATTAATTCTTTGAATCAT	0.279																																						dbGAP											0													77.0	83.0	81.0					14																	60951607		2202	4292	6494	-	-	-	SO:0001583	missense	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.98G>T	14.37:g.60951607C>A	ENSP00000324920:p.Arg33Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Missense_Mutation	SNP	NULL	p.R33I	ENST00000321731.3	37	c.98	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488192	0.64074	.	.	ENSG00000179008	ENST00000321731;ENST00000555476;ENST00000556799	T;T	0.49720	1.77;0.77	4.98	3.01	0.34805	.	0.235529	0.29376	N	0.012325	T	0.54111	0.1838	L	0.51422	1.61	0.42430	D	0.992677	D	0.76494	0.999	D	0.68943	0.961	T	0.55192	-0.8179	10	0.56958	D	0.05	-3.2154	5.0388	0.14449	0.2094:0.6854:0.0:0.1053	.	33	Q8N1H7	S6OS1_HUMAN	I	33;4;33	ENSP00000324920:R33I;ENSP00000451665:R4I	ENSP00000324920:R33I	R	-	2	0	C14orf39	60021360	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	0.977000	0.29475	2.480000	0.83734	0.655000	0.94253	AGA	C14orf39	-	NULL	ENSG00000179008		0.279	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	559	0.00	0	C	NM_174978		60951607	60951607	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	missense	242	22.19	69	SNP	0.995	A
ELMSAN1	91748	genome.wustl.edu	37	14	74203782	74203782	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:74203782C>A	ENST00000286523.5	-	3	2450	c.1668G>T	c.(1666-1668)caG>caT	p.Q556H	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.Q556H|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CAGCAGGGTTCTGTTCAGGAC	0.607																																						dbGAP											0													96.0	81.0	86.0					14																	74203782		2203	4300	6503	-	-	-	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1668G>T	14.37:g.74203782C>A	ENSP00000286523:p.Gln556His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.Q556H	ENST00000286523.5	37	c.1668	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067199	0.36470	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.24	4.34	0.51931	.	0.182943	0.36854	N	0.002373	T	0.08980	0.0222	N	0.14661	0.345	0.31207	N	0.699052	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.05599	-1.0875	10	0.41790	T	0.15	-14.2194	5.4969	0.16807	0.0:0.6733:0.2031:0.1237	.	556;556	A0PJD3;Q6PJG2	.;CN043_HUMAN	H	556	ENSP00000377634:Q556H;ENSP00000286523:Q556H;ENSP00000407767:Q556H;ENSP00000402380:Q556H	ENSP00000286523:Q556H	Q	-	3	2	C14orf43	73273535	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	1.445000	0.35079	1.418000	0.47098	0.655000	0.94253	CAG	C14orf43	-	NULL	ENSG00000156030		0.607	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	106	0.00	0	C	NM_194278		74203782	74203782	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	missense	84	10.64	10	SNP	0.980	A
C14orf177	283598	genome.wustl.edu	37	14	99182659	99182659	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:99182659C>A	ENST00000325812.2	+	3	550	c.131C>A	c.(130-132)tCt>tAt	p.S44Y		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	44								p.S44F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGCCCAAGTTCTCAGCACCTG	0.532																																						dbGAP											1	Substitution - Missense(1)	lung(1)											131.0	95.0	107.0					14																	99182659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.131C>A	14.37:g.99182659C>A	ENSP00000321360:p.Ser44Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7D2	Missense_Mutation	SNP	NULL	p.S44Y	ENST00000325812.2	37	c.131	CCDS9948.1	14	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182313	0.21870	.	.	ENSG00000176605	ENST00000325812;ENST00000541516	T;T	0.40756	1.11;1.02	3.43	-1.92	0.07618	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	P	0.41784	0.762	B	0.35353	0.201	T	0.13335	-1.0513	9	0.87932	D	0	.	0.6947	0.00897	0.1696:0.3527:0.1662:0.3115	.	44	Q52M58	CN177_HUMAN	Y	44	ENSP00000321360:S44Y;ENSP00000440687:S44Y	ENSP00000321360:S44Y	S	+	2	0	C14orf177	98252412	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.185000	0.16958	-0.439000	0.07222	0.650000	0.86243	TCT	C14orf177	-	NULL	ENSG00000176605		0.532	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf177	HGNC	protein_coding	OTTHUMT00000396078.1	242	0.00	0	C	NM_182560		99182659	99182659	+1	no_errors	ENST00000325812	ensembl	human	known	69_37n	missense	227	10.98	28	SNP	0.000	A
KATNBL1	79768	genome.wustl.edu	37	15	34445073	34445073	+	Missense_Mutation	SNP	C	C	T	rs369374470		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:34445073C>T	ENST00000256544.3	-	4	498	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	119						nucleolus (GO:0005730)											CAAATATGTTCGACTATCATG	0.413																																						dbGAP											0													77.0	77.0	77.0					15																	34445073		2201	4298	6499	-	-	-	SO:0001583	missense	0			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.356G>A	15.37:g.34445073C>T	ENSP00000256544:p.Arg119Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	NULL	p.R119Q	ENST00000256544.3	37	c.356	CCDS10034.1	15	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603444	0.66445	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	5.47	5.47	0.80525	.	0.224065	0.47455	D	0.000225	T	0.58148	0.2102	L	0.32530	0.975	0.53005	D	0.999962	D	0.71674	0.998	P	0.52066	0.689	T	0.51172	-0.8739	9	0.19147	T	0.46	.	19.325	0.94258	0.0:1.0:0.0:0.0	.	119	Q9H079	CO029_HUMAN	Q	119;23	.	ENSP00000256544:R119Q	R	-	2	0	C15orf29	32232365	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	3.609000	0.54117	2.572000	0.86782	0.655000	0.94253	CGA	C15orf29	-	NULL	ENSG00000134152		0.413	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf29	HGNC	protein_coding	OTTHUMT00000251520.1	65	0.00	0	C	NM_024713		34445073	34445073	-1	no_errors	ENST00000256544	ensembl	human	known	69_37n	missense	56	26.32	20	SNP	0.999	T
KNSTRN	90417	genome.wustl.edu	37	15	40675196	40675196	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40675196C>A	ENST00000249776.8	+	1	275	c.160C>A	c.(160-162)Ctt>Att	p.L54I	KNSTRN_ENST00000416151.2_Missense_Mutation_p.L54I|KNSTRN_ENST00000448395.2_Missense_Mutation_p.L54I|KNSTRN_ENST00000608100.1_5'UTR	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TGCAGGGAATCTTTTAAACGA	0.617																																						dbGAP											0													60.0	67.0	65.0					15																	40675196		1867	4093	5960	-	-	-	SO:0001583	missense	0			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.160C>A	15.37:g.40675196C>A	ENSP00000249776:p.Leu54Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L54I	ENST00000249776.8	37	c.160	CCDS42021.1	15	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576446	0.65878	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.32988	1.43;1.43;1.43	4.9	-0.555	0.11807	.	0.843246	0.10136	N	0.711509	T	0.16171	0.0389	N	0.24115	0.695	0.09310	N	1	P;P;P	0.36535	0.557;0.557;0.557	B;B;B	0.35971	0.215;0.215;0.215	T	0.21690	-1.0238	10	0.22109	T	0.4	.	4.4745	0.11729	0.0:0.4171:0.3117:0.2712	.	54;54;54	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	I	54	ENSP00000249776:L54I;ENSP00000391233:L54I;ENSP00000393001:L54I	ENSP00000249776:L54I	L	+	1	0	C15orf23	38462488	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.583000	0.02115	0.036000	0.15547	0.561000	0.74099	CTT	C15orf23	-	NULL	ENSG00000128944		0.617	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf23	HGNC	protein_coding	OTTHUMT00000418636.1	26	0.00	0	C	NM_001142761		40675196	40675196	+1	no_errors	ENST00000249776	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.000	A
C15orf32	145858	genome.wustl.edu	37	15	93015504	93015504	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:93015504T>G	ENST00000333334.2	+	1	621	c.126T>G	c.(124-126)gcT>gcG	p.A42A	C15orf32_ENST00000556865.1_Silent_p.A42A|RP11-763K15.1_ENST00000554440.1_lincRNA	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	42										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AAGGAACGGCTCCCCCTTTCT	0.542																																						dbGAP											0													101.0	105.0	104.0					15																	93015504		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.126T>G	15.37:g.93015504T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C5HTZ8|Q96M45	Silent	SNP	NULL	p.A42	ENST00000333334.2	37	c.126	CCDS10373.1	15																																																																																			C15orf32	-	NULL	ENSG00000183643		0.542	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C15orf32	HGNC	protein_coding	OTTHUMT00000313527.2	192	0.00	0	T	NM_153040		93015504	93015504	+1	no_errors	ENST00000333334	ensembl	human	known	69_37n	silent	116	27.04	43	SNP	0.001	G
C16orf45	89927	genome.wustl.edu	37	16	15596229	15596229	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:15596229G>T	ENST00000300006.4	+	2	465				C16orf45_ENST00000566490.1_Intron|RP11-1021N1.1_ENST00000568222.1_Intron|C16orf45_ENST00000452191.2_Missense_Mutation_p.K17N	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGAGTGCAAAGAAAGGTATGA	0.557																																						dbGAP											0													138.0	127.0	130.0					16																	15596229		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.107-12933G>T	16.37:g.15596229G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	pfam_DUF3585	p.K17N	ENST00000300006.4	37	c.51	CCDS10561.1	16	.	.	.	.	.	.	.	.	.	.	G	5.427	0.263960	0.10294	.	.	ENSG00000166780	ENST00000452191	.	.	.	3.2	-6.39	0.01951	.	.	.	.	.	T	0.26195	0.0639	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.29822	-0.9999	5	0.29301	T	0.29	.	6.1298	0.20199	0.6607:0.0:0.1977:0.1416	.	.	.	.	N	17	.	ENSP00000408976:K17N	K	+	3	2	C16orf45	15503730	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.089000	0.03376	-1.503000	0.01812	-0.218000	0.12543	AAG	C16orf45	-	NULL	ENSG00000166780		0.557	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf45	HGNC	protein_coding	OTTHUMT00000252130.2	480	0.00	0	G	NM_033201		15596229	15596229	+1	no_errors	ENST00000452191	ensembl	human	known	69_37n	missense	265	15.46	49	SNP	0.000	T
C16orf70	80262	genome.wustl.edu	37	16	67174455	67174455	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:67174455G>A	ENST00000219139.3	+	10	1025	c.837G>A	c.(835-837)tcG>tcA	p.S279S	C16orf70_ENST00000569600.1_Silent_p.S279S	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	279										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AAGTTCCATCGAAGTGTAATG	0.368																																						dbGAP											0													129.0	123.0	125.0					16																	67174455		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.837G>A	16.37:g.67174455G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HA86	Silent	SNP	pfam_UPF0183	p.S279	ENST00000219139.3	37	c.837	CCDS10828.1	16																																																																																			C16orf70	-	pfam_UPF0183	ENSG00000125149		0.368	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2	116	0.00	0	G	NM_025187		67174455	67174455	+1	no_errors	ENST00000219139	ensembl	human	known	69_37n	silent	38	28.30	15	SNP	0.615	A
VPS9D1	9605	genome.wustl.edu	37	16	89783151	89783151	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:89783151C>T	ENST00000389386.3	-	3	379	c.255G>A	c.(253-255)acG>acA	p.T85T	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_Silent_p.T15T	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	85					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GCTTGGCGGCCGTCGACTGGG	0.652																																						dbGAP											0													22.0	28.0	26.0					16																	89783151		1926	4112	6038	-	-	-	SO:0001819	synonymous_variant	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.255G>A	16.37:g.89783151C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.T85	ENST00000389386.3	37	c.255	CCDS42220.1	16																																																																																			C16orf7	-	NULL	ENSG00000075399		0.652	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C16orf7	HGNC	protein_coding	OTTHUMT00000422508.1	26	0.00	0	C	NM_004913		89783151	89783151	-1	no_errors	ENST00000389386	ensembl	human	known	69_37n	silent	8	57.89	11	SNP	0.062	T
C17orf102	400591	genome.wustl.edu	37	17	32906012	32906012	+	Silent	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:32906012G>C	ENST00000357754.1	-	1	376	c.288C>G	c.(286-288)ggC>ggG	p.G96G	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	96										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGCCCCCGCGGCCCGAGAGGA	0.667																																						dbGAP											0													41.0	47.0	45.0					17																	32906012		1845	4085	5930	-	-	-	SO:0001819	synonymous_variant	0				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.288C>G	17.37:g.32906012G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX0|Q6ZTB3	Silent	SNP	NULL	p.G96	ENST00000357754.1	37	c.288	CCDS42297.1	17																																																																																			C17orf102	-	NULL	ENSG00000197322		0.667	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	29	0.00	0	G	NM_207454		32906012	32906012	-1	no_errors	ENST00000357754	ensembl	human	known	69_37n	silent	3	57.14	4	SNP	0.036	C
C17orf47	284083	genome.wustl.edu	37	17	56620618	56620618	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:56620618C>A	ENST00000321691.3	-	1	1111	c.930G>T	c.(928-930)aaG>aaT	p.K310N	SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	310										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATACTAAGACCTTTGCGGAGG	0.527																																						dbGAP											0													82.0	75.0	78.0					17																	56620618		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.930G>T	17.37:g.56620618C>A	ENSP00000354874:p.Lys310Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N821	Missense_Mutation	SNP	NULL	p.K310N	ENST00000321691.3	37	c.930	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770859	0.49680	.	.	ENSG00000181013	ENST00000321691	T	0.41400	1.0	4.99	0.76	0.18442	.	0.097482	0.44902	D	0.000420	T	0.44726	0.1307	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.26189	-1.0110	10	0.52906	T	0.07	-18.9326	7.1898	0.25818	0.0:0.6263:0.0:0.3737	.	310	Q8NEP4	CQ047_HUMAN	N	310	ENSP00000354874:K310N	ENSP00000354874:K310N	K	-	3	2	C17orf47	53975617	0.009000	0.17119	0.049000	0.19019	0.056000	0.15407	0.043000	0.13971	0.007000	0.14760	-0.379000	0.06801	AAG	C17orf47	-	NULL	ENSG00000181013		0.527	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	160	0.00	0	C	NM_001038704		56620618	56620618	-1	no_errors	ENST00000321691	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	0.034	A
C17orf77	146723	genome.wustl.edu	37	17	72588523	72588523	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:72588523C>A	ENST00000392620.1	+	3	700	c.338C>A	c.(337-339)tCt>tAt	p.S113Y	CD300LD_ENST00000375352.1_5'Flank|C17orf77_ENST00000328023.2_Missense_Mutation_p.S113Y	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	113	Cys-rich.					extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGGTGTCATTCTTTGAAAAGA	0.428																																						dbGAP											0													128.0	125.0	126.0					17																	72588523		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.338C>A	17.37:g.72588523C>A	ENSP00000376396:p.Ser113Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S113Y	ENST00000392620.1	37	c.338	CCDS32721.1	17	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276583	0.05679	.	.	ENSG00000182352	ENST00000392620;ENST00000328023	T;T	0.19806	2.12;2.12	3.16	-0.232	0.13082	.	.	.	.	.	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.52189	0.692	T	0.12993	-1.0526	8	.	.	.	.	3.0461	0.06154	0.0:0.4658:0.2312:0.303	.	113	Q96MU5	CQ077_HUMAN	Y	113	ENSP00000376396:S113Y;ENSP00000329353:S113Y	.	S	+	2	0	C17orf77	70100118	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.581000	0.02119	-0.000000	0.14550	-0.192000	0.12808	TCT	C17orf77	-	NULL	ENSG00000182352		0.428	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf77	HGNC	protein_coding	OTTHUMT00000145090.2	238	0.00	0	C	NM_152460		72588523	72588523	+1	no_errors	ENST00000328023	ensembl	human	known	69_37n	missense	248	15.88	47	SNP	0.000	A
C18orf8	29919	genome.wustl.edu	37	18	21096373	21096373	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:21096373C>T	ENST00000269221.3	+	7	749	c.639C>T	c.(637-639)atC>atT	p.I213I	C18orf8_ENST00000590868.1_Silent_p.I165I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	213						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGAGACATCGCAATGGCTA	0.448											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													97.0	80.0	86.0					18																	21096373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.639C>T	18.37:g.21096373C>T		Somatic	745	WXS	Illumina GAIIx	Phase_IV	Q9BU17|Q9Y5M0	Silent	SNP	pfam_Mic1,superfamily_WD40_repeat_dom	p.I213	ENST00000269221.3	37	c.639	CCDS32803.1	18																																																																																			C18orf8	-	superfamily_WD40_repeat_dom	ENSG00000141452		0.448	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C18orf8	HGNC	protein_coding	OTTHUMT00000445386.1	106	0.00	0	C	NM_013326		21096373	21096373	+1	no_errors	ENST00000269221	ensembl	human	known	69_37n	silent	99	13.16	15	SNP	0.268	T
C19orf40	91442	genome.wustl.edu	37	19	33467512	33467512	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:33467512C>T	ENST00000588258.1	+	5	682	c.572C>T	c.(571-573)tCc>tTc	p.S191F	C19orf40_ENST00000589646.1_Missense_Mutation_p.S96F|C19orf40_ENST00000590179.1_Missense_Mutation_p.S96F|C19orf40_ENST00000590281.1_Missense_Mutation_p.S191F	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	191	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AGTAATGCTTCCATTGGGGAA	0.567								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	115.0	120.0					19																	33467512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.572C>T	19.37:g.33467512C>T	ENSP00000466121:p.Ser191Phe	Somatic	840	WXS	Illumina GAIIx	Phase_IV	B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.S191F	ENST00000588258.1	37	c.572	CCDS12426.1	19	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091146	0.55968	.	.	ENSG00000131944	ENST00000254262	.	.	.	5.35	5.35	0.76521	RuvA domain 2-like (1);	0.051483	0.85682	D	0.000000	D	0.90563	0.7042	H	0.97918	4.105	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	D	0.93805	0.7104	9	0.87932	D	0	-17.139	19.0757	0.93161	0.0:1.0:0.0:0.0	.	191	Q9BTP7	FAP24_HUMAN	F	191	.	ENSP00000254262:S191F	S	+	2	0	C19orf40	38159352	0.791000	0.28800	0.611000	0.29010	0.018000	0.09664	5.283000	0.65621	2.662000	0.90505	0.579000	0.79373	TCC	C19orf40	-	superfamily_RuvA_2-like	ENSG00000131944		0.567	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf40	HGNC	protein_coding	OTTHUMT00000450823.2	150	0.00	0	C	NM_152266		33467512	33467512	+1	no_errors	ENST00000588258	ensembl	human	known	69_37n	missense	116	18.18	26	SNP	0.993	T
C19orf18	147685	genome.wustl.edu	37	19	58470070	58470070	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58470070C>A	ENST00000314391.3	-	6	649	c.548G>T	c.(547-549)aGa>aTa	p.R183I		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	183						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATTTTTGCTTCTTTTTGATAT	0.313																																						dbGAP											0													49.0	45.0	46.0					19																	58470070		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.548G>T	19.37:g.58470070C>A	ENSP00000321519:p.Arg183Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R183I	ENST00000314391.3	37	c.548	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516340	0.27123	.	.	ENSG00000177025	ENST00000314391	T	0.58940	0.3	3.14	2.08	0.27032	.	0.207171	0.24115	N	0.041401	T	0.33118	0.0852	N	0.17082	0.46	0.31022	N	0.718066	P	0.40909	0.732	B	0.34779	0.189	T	0.32375	-0.9909	10	0.31617	T	0.26	-18.9746	7.8095	0.29221	0.2461:0.7539:0.0:0.0	.	183	Q8NEA5	CS018_HUMAN	I	183	ENSP00000321519:R183I	ENSP00000321519:R183I	R	-	2	0	C19orf18	63161882	0.088000	0.21588	0.365000	0.25901	0.491000	0.33493	0.491000	0.22419	0.881000	0.35993	0.485000	0.47835	AGA	C19orf18	-	NULL	ENSG00000177025		0.313	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1	188	0.00	0	C	NM_152474		58470070	58470070	-1	no_errors	ENST00000314391	ensembl	human	known	69_37n	missense	124	43.64	96	SNP	0.469	A
C1GALT1	56913	genome.wustl.edu	37	7	7278212	7278212	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:7278212C>A	ENST00000223122.3	+	2	609	c.547C>A	c.(547-549)Ctt>Att	p.L183I	C1GALT1_ENST00000436587.2_Missense_Mutation_p.L183I|C1GALT1_ENST00000402468.3_Missense_Mutation_p.L183I			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	183					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GAGGTGGCTTCTTTCAAAATA	0.383																																						dbGAP											0													71.0	70.0	70.0					7																	7278212		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.547C>A	7.37:g.7278212C>A	ENSP00000223122:p.Leu183Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96QH4|Q9BTU1	Missense_Mutation	SNP	pfam_Fringe-like,pfam_Glyco_trans_31	p.L183I	ENST00000223122.3	37	c.547	CCDS5355.1	7	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280043	0.59758	.	.	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.75477	-0.94;-0.94;-0.94	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.87758	2.905	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.79108	0.99;0.992	D	0.87969	0.2735	9	.	.	.	-17.2983	12.9021	0.58130	0.0:0.9253:0.0:0.0747	.	183;183	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	I	183	ENSP00000389176:L183I;ENSP00000223122:L183I;ENSP00000384550:L183I	.	L	+	1	0	C1GALT1	7244737	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	4.643000	0.61390	2.717000	0.92951	0.650000	0.86243	CTT	C1GALT1	-	pfam_Fringe-like,pfam_Glyco_trans_31	ENSG00000106392		0.383	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1	HGNC	protein_coding	OTTHUMT00000324379.2	170	0.00	0	C	NM_020156		7278212	7278212	+1	no_errors	ENST00000223122	ensembl	human	known	69_37n	missense	89	27.42	34	SNP	1.000	A
C1GALT1C1	29071	genome.wustl.edu	37	X	119760860	119760860	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:119760860T>G	ENST00000304661.5	-	2	400	c.162A>C	c.(160-162)aaA>aaC	p.K54N	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.K54N	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	54					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CCTCTGAAATTTTCAAGATAT	0.413																																						dbGAP											0													146.0	124.0	131.0					X																	119760860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.162A>C	X.37:g.119760860T>G	ENSP00000304364:p.Lys54Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.K54N	ENST00000304661.5	37	c.162	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	T	8.998	0.979445	0.18812	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.45668	0.89;0.89	5.76	4.59	0.56863	.	0.231003	0.45361	D	0.000377	T	0.24547	0.0595	L	0.27053	0.805	0.40207	D	0.977588	B	0.15473	0.013	B	0.15484	0.013	T	0.10636	-1.0621	9	.	.	.	-17.5534	3.6428	0.08173	0.1636:0.1744:0.0:0.662	.	54	Q96EU7	C1GLC_HUMAN	N	54	ENSP00000304364:K54N;ENSP00000360363:K54N	.	K	-	3	2	C1GALT1C1	119644888	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.566000	0.36396	0.787000	0.33731	0.441000	0.28932	AAA	C1GALT1C1	-	NULL	ENSG00000171155		0.413	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	167	0.00	0	T	NM_152692		119760860	119760860	-1	no_errors	ENST00000304661	ensembl	human	known	69_37n	missense	82	22.64	24	SNP	1.000	G
C1QTNF3	114899	genome.wustl.edu	37	5	34020767	34020767	+	Missense_Mutation	SNP	C	C	T	rs551906960		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:34020767C>T	ENST00000231338.7	-	6	749	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.R205Q|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.R294Q|C1QTNF3_ENST00000513065.1_5'Flank	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ATTGCCCATTCGCAGCCAAAC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21264	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													181.0	163.0	169.0					5																	34020767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.662G>A	5.37:g.34020767C>T	ENSP00000231338:p.Arg221Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R294Q	ENST00000231338.7	37	c.881	CCDS3904.1	5	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321090	0.41096	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	T;T	0.74737	-0.87;-0.87	5.84	4.97	0.65823	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	T	0.62295	0.2416	N	0.13272	0.32	0.42157	D	0.991588	P;B	0.42337	0.776;0.125	P;B	0.46585	0.521;0.134	T	0.60058	-0.7337	9	0.07325	T	0.83	.	14.8566	0.70341	0.0:0.9313:0.0:0.0687	.	294;221	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	Q	174;294;221	ENSP00000371497:R294Q;ENSP00000231338:R221Q	ENSP00000231338:R221Q	R	-	2	0	C1QTNF3	34056524	1.000000	0.71417	0.922000	0.36590	0.988000	0.76386	5.314000	0.65804	1.482000	0.48325	0.655000	0.94253	CGA	C1QTNF3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000082196		0.468	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	C1QTNF3	HGNC	protein_coding	OTTHUMT00000207469.1	283	0.00	0	C	NM_030945		34020767	34020767	-1	no_errors	ENST00000382065	ensembl	human	known	69_37n	missense	183	22.36	53	SNP	0.998	T
C1QTNF6	114904	genome.wustl.edu	37	22	37578279	37578279	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:37578279G>A	ENST00000337843.2	-	3	861	c.786C>T	c.(784-786)ttC>ttT	p.F262F	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.F262F|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.F138F	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	243					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGTAGGTGTCGAAGTCGTTGC	0.647																																						dbGAP											0													78.0	71.0	73.0					22																	37578279		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.786C>T	22.37:g.37578279G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9G8|Q6ZRM7	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.F262	ENST00000337843.2	37	c.786	CCDS13943.1	22																																																																																			C1QTNF6	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000133466		0.647	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	78	0.00	0	G	NM_182486		37578279	37578279	-1	no_errors	ENST00000337843	ensembl	human	known	69_37n	silent	51	15.00	9	SNP	0.425	A
C1QTNF9	338872	genome.wustl.edu	37	13	24895186	24895186	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:24895186A>C	ENST00000382071.2	+	4	367	c.282A>C	c.(280-282)agA>agC	p.R94S	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R94S|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	94						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGCTCAAGAGGATCCCCAG	0.512																																						dbGAP											0													27.0	24.0	25.0					13																	24895186		2193	4253	6446	-	-	-	SO:0001583	missense	0			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.282A>C	13.37:g.24895186A>C	ENSP00000371503:p.Arg94Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R94S	ENST00000382071.2	37	c.282	CCDS9306.1	13	.	.	.	.	.	.	.	.	.	.	N	10.55	1.381315	0.24944	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93076	-3.16;-3.16	4.1	2.91	0.33838	.	0.244963	0.40064	N	0.001190	D	0.89681	0.6785	L	0.36672	1.1	0.80722	D	1	D	0.53885	0.963	P	0.47827	0.558	D	0.85970	0.1476	9	.	.	.	.	8.6933	0.34280	0.9074:0.0:0.0926:0.0	.	94	P0C862	C1T9A_HUMAN	S	94	ENSP00000371503:R94S;ENSP00000333737:R94S	.	R	+	3	2	C1QTNF9	23793186	1.000000	0.71417	0.118000	0.21660	0.024000	0.10985	1.964000	0.40462	0.720000	0.32209	0.438000	0.28831	AGA	C1QTNF9	-	NULL	ENSG00000240654		0.512	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	HGNC	protein_coding	OTTHUMT00000044177.1	179	0.00	0	A	NM_178540		24895186	24895186	+1	no_errors	ENST00000332018	ensembl	human	known	69_37n	missense	89	30.47	39	SNP	0.963	C
C1QTNF9	338872	genome.wustl.edu	37	13	24895463	24895463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:24895463C>T	ENST00000382071.2	+	4	644	c.559C>T	c.(559-561)Cga>Tga	p.R187*	AL359736.1_ENST00000422229.2_Missense_Mutation_p.R35Q|C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R187*|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	187	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAAAGGAGATCGAGGAGAGAA	0.552																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.559C>T	13.37:g.24895463C>T	ENSP00000371503:p.Arg187*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Nonsense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R187*	ENST00000382071.2	37	c.559	CCDS9306.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	25.8|25.8	4.680007|4.680007	0.88542|0.88542	.|.	.|.	ENSG00000205850|ENSG00000240654	ENST00000422229|ENST00000382071;ENST00000332018	D|.	0.85556|.	-2.0|.	3.75|3.75	3.75|3.75	0.43078|0.43078	.|.	0.282519|0.282519	0.33401|0.33401	N|N	0.004949|0.004949	T|.	0.38957|.	0.1060|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21965|.	-1.0230|.	7|.	0.41790|.	T|.	0.15|.	.|.	10.9846|10.9846	0.47514|0.47514	0.2008:0.7991:0.0:0.0|0.2008:0.7991:0.0:0.0	.|.	.|.	.|.	.|.	Q|X	35|187	ENSP00000396192:R35Q|.	ENSP00000396192:R35Q|.	R|R	-|+	2|1	0|2	AL359736.1|C1QTNF9	23793463|23793463	0.003000|0.003000	0.15002|0.15002	0.977000|0.977000	0.42913|0.42913	0.972000|0.972000	0.66771|0.66771	0.270000|0.270000	0.18607|0.18607	2.067000|2.067000	0.61834|0.61834	0.430000|0.430000	0.28490|0.28490	CGA|CGA	C1QTNF9	-	pfam_Collagen	ENSG00000240654		0.552	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	HGNC	protein_coding	OTTHUMT00000044177.1	162	0.00	0	C	NM_178540		24895463	24895463	+1	no_errors	ENST00000332018	ensembl	human	known	69_37n	nonsense	87	35.29	48	SNP	0.026	T
C1S	716	genome.wustl.edu	37	12	7170039	7170039	+	Intron	SNP	G	G	A	rs184632623		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:7170039G>A	ENST00000406697.1	+	6	841				C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Intron|C1S_ENST00000328916.3_Intron			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTAAGGTAGCGGAATAAGGAT	0.448													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				GBM(156;750 1943 12971 24779 31015)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.213+53G>A	12.37:g.7170039G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	RNA	SNP	-	NULL	ENST00000406697.1	37	NULL	CCDS31735.1	12																																																																																			C1S	-	-	ENSG00000182326		0.448	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1S	HGNC	protein_coding	OTTHUMT00000317481.1	127	0.00	0	G	NM_001734		7170039	7170039	+1	no_errors	ENST00000543187	ensembl	human	putative	69_37n	rna	101	13.45	16	SNP	0.000	A
C1orf101	257044	genome.wustl.edu	37	1	244723973	244723973	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:244723973A>G	ENST00000366534.4	+	10	1087	c.1033A>G	c.(1033-1035)Aaa>Gaa	p.K345E	C1orf101_ENST00000366531.3_Missense_Mutation_p.K194E|C1orf101_ENST00000366533.4_Missense_Mutation_p.K345E|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	345						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GTCACAGGCTAAAGGAAGAAG	0.318																																						dbGAP											0													64.0	66.0	65.0					1																	244723973		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1033A>G	1.37:g.244723973A>G	ENSP00000355492:p.Lys345Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.K345E	ENST00000366534.4	37	c.1033	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	A	9.865	1.197250	0.22037	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.31769	1.49;1.49;1.48	4.97	-4.48	0.03515	.	1.953750	0.02030	N	0.048447	T	0.26846	0.0657	L	0.55481	1.735	0.09310	N	1	B;B;B	0.25955	0.003;0.138;0.138	B;B;B	0.21917	0.005;0.037;0.037	T	0.20042	-1.0287	10	0.32370	T	0.25	.	6.9145	0.24352	0.2102:0.3248:0.4649:0.0	.	265;345;345	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	E	345;345;345;265;194	ENSP00000355492:K345E;ENSP00000355491:K345E;ENSP00000395796:K265E	ENSP00000355489:K194E	K	+	1	0	C1orf101	242790596	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.872000	0.04219	-0.619000	0.05648	-0.417000	0.06048	AAA	C1orf101	-	NULL	ENSG00000179397		0.318	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	173	0.00	0	A	NM_173807		244723973	244723973	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	117	44.29	93	SNP	0.000	G
C1orf101	257044	genome.wustl.edu	37	1	244724194	244724194	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:244724194G>T	ENST00000366534.4	+	10	1308	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N	C1orf101_ENST00000366531.3_Missense_Mutation_p.K267N|C1orf101_ENST00000366533.4_Missense_Mutation_p.K418N|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	418						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCACCAAAAAGATTTTCTTAG	0.378																																						dbGAP											0													107.0	113.0	111.0					1																	244724194		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1254G>T	1.37:g.244724194G>T	ENSP00000355492:p.Lys418Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.K418N	ENST00000366534.4	37	c.1254	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	8.145	0.786076	0.16189	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.08	-5.18	0.02840	.	1.419330	0.04425	N	0.368264	T	0.14356	0.0347	L	0.38531	1.155	0.09310	N	1	B;B;B	0.26809	0.16;0.052;0.052	B;B;B	0.24701	0.037;0.031;0.055	T	0.20042	-1.0287	10	0.10636	T	0.68	.	2.71	0.05173	0.501:0.1225:0.2519:0.1245	.	338;418;418	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	N	418;418;418;338;267	ENSP00000355492:K418N;ENSP00000355491:K418N;ENSP00000395796:K338N;ENSP00000355489:K267N	ENSP00000355489:K267N	K	+	3	2	C1orf101	242790817	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.665000	0.05286	-1.047000	0.03242	-0.169000	0.13324	AAG	C1orf101	-	NULL	ENSG00000179397		0.378	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	265	0.38	1	G	NM_173807		244724194	244724194	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	267	10.37	31	SNP	0.000	T
C1orf127	148345	genome.wustl.edu	37	1	11017132	11017132	+	Intron	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:11017132T>C	ENST00000377008.4	-	7	724				C1orf127_ENST00000377004.4_Silent_p.L242L			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCACCAGCCATAGTGGCAGGA	0.577																																						dbGAP											0													26.0	37.0	34.0					1																	11017132		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.277+509A>G	1.37:g.11017132T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.Y220C	ENST00000377008.4	37	c.659		1	.	.	.	.	.	.	.	.	.	.	T	5.709	0.315367	0.10789	.	.	ENSG00000175262	ENST00000520253	.	.	.	5.39	-1.04	0.10068	.	.	.	.	.	T	0.39572	0.1083	.	.	.	0.40854	D	0.983778	.	.	.	.	.	.	T	0.26292	-1.0107	4	.	.	.	.	1.3057	0.02087	0.4136:0.1427:0.2953:0.1483	.	.	.	.	C	220	.	.	Y	-	2	0	C1orf127	10939719	0.333000	0.24731	0.051000	0.19133	0.619000	0.37552	-0.137000	0.10389	-0.232000	0.09811	-0.396000	0.06452	TAT	C1orf127	-	NULL	ENSG00000175262		0.577	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		79	0.00	0	T	NM_173507		11017132	11017132	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000520253	ensembl	human	putative	69_37n	missense	40	14.89	7	SNP	0.597	C
C1orf168	199920	genome.wustl.edu	37	1	57185885	57185885	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:57185885C>T	ENST00000343433.6	-	18	2172	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	698										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGATTTTGTTCGGTGGTATCA	0.303																																						dbGAP											0													73.0	69.0	70.0					1																	57185885		2202	4299	6501	-	-	-	SO:0001583	missense	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2092G>A	1.37:g.57185885C>T	ENSP00000345972:p.Glu698Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.E698K	ENST00000343433.6	37	c.2092	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573175	0.45902	.	.	ENSG00000187889	ENST00000343433	T	0.33865	1.39	4.85	1.8	0.24995	Src homology-3 domain (2);	0.106418	0.40385	N	0.001119	T	0.30510	0.0767	M	0.68317	2.08	0.37302	D	0.908737	B	0.31989	0.35	B	0.22880	0.042	T	0.33624	-0.9861	10	0.62326	D	0.03	-12.4878	8.1341	0.31043	0.0:0.7104:0.1321:0.1575	.	698	Q5VWT5	CA168_HUMAN	K	698	ENSP00000345972:E698K	ENSP00000345972:E698K	E	-	1	0	C1orf168	56958473	0.970000	0.33590	0.944000	0.38274	0.296000	0.27459	1.987000	0.40687	0.777000	0.33496	-0.727000	0.03589	GAA	C1orf168	-	superfamily_SH3_domain	ENSG00000187889		0.303	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	222	0.00	0	C	NM_001004303		57185885	57185885	-1	no_errors	ENST00000343433	ensembl	human	known	69_37n	missense	134	15.72	25	SNP	0.902	T
C1orf141	400757	genome.wustl.edu	37	1	67559239	67559239	+	Nonsense_Mutation	SNP	G	G	A	rs548899130		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:67559239G>A	ENST00000371007.2	-	8	761	c.652C>T	c.(652-654)Cga>Tga	p.R218*	C1orf141_ENST00000371006.1_Nonsense_Mutation_p.R218*|C1orf141_ENST00000544837.1_Nonsense_Mutation_p.R218*	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	218										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGTAACATTCGTACATATTCT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		15263	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													41.0	44.0	43.0					1																	67559239		2192	4278	6470	-	-	-	SO:0001587	stop_gained	0			BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.652C>T	1.37:g.67559239G>A	ENSP00000360046:p.Arg218*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P5P5|Q5JVX5	Nonsense_Mutation	SNP	NULL	p.R218*	ENST00000371007.2	37	c.652	CCDS30745.1	1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223312	0.39300	.	.	ENSG00000203963	ENST00000371007;ENST00000371006;ENST00000544837	.	.	.	5.29	5.29	0.74685	.	0.158524	0.30093	N	0.010428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-6.3639	14.7827	0.69779	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000360045:R218X	R	-	1	2	C1orf141	67331827	0.979000	0.34478	0.548000	0.28192	0.009000	0.06853	0.793000	0.26944	2.620000	0.88729	0.561000	0.74099	CGA	C1orf141	-	NULL	ENSG00000203963		0.279	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf141	HGNC	protein_coding	OTTHUMT00000026096.2	95	0.00	0	G	NM_001013674		67559239	67559239	-1	no_errors	ENST00000371006	ensembl	human	known	69_37n	nonsense	80	16.67	16	SNP	0.997	A
ERICH3	127254	genome.wustl.edu	37	1	75055549	75055549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:75055549C>A	ENST00000326665.5	-	12	2160	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.E451*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		648	Glu-rich.							p.E648K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTGTTATTTCTTGGTCTTCA	0.408																																						dbGAP											1	Substitution - Missense(1)	lung(1)											125.0	127.0	126.0					1																	75055549		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000326665.5:c.1942G>T	1.37:g.75055549C>A	ENSP00000322609:p.Glu648*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.E648*	ENST00000326665.5	37	c.1942	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598253	0.87055	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	5.08	-4.56	0.03431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-1.3304	6.908	0.24319	0.0:0.3693:0.123:0.5077	.	.	.	.	X	648;451	.	ENSP00000322609:E648X	E	-	1	0	C1orf173	74828137	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.627000	0.05521	-0.903000	0.03881	-0.234000	0.12200	GAA	C1orf173	-	NULL	ENSG00000178965		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	398	0.25	1	C			75055549	75055549	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	nonsense	172	27.12	64	SNP	0.000	A
ERICH3	127254	genome.wustl.edu	37	1	75072410	75072410	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:75072410T>G	ENST00000326665.5	-	10	1582	c.1364A>C	c.(1363-1365)aAa>aCa	p.K455T	C1orf173_ENST00000420661.2_Missense_Mutation_p.K258T|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		455	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCTGAAAATTTGGCTGAAAC	0.413																																						dbGAP											0													172.0	174.0	174.0					1																	75072410		2203	4299	6502	-	-	-	SO:0001583	missense	0																														ENST00000326665.5:c.1364A>C	1.37:g.75072410T>G	ENSP00000322609:p.Lys455Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.K455T	ENST00000326665.5	37	c.1364	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	4.009	-0.000957	0.07819	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.17370	2.78;2.28	5.15	-4.15	0.03881	.	.	.	.	.	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.46843	-0.9162	9	0.14252	T	0.57	0.9625	2.3312	0.04236	0.3703:0.3739:0.1306:0.1252	.	258;455	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	T	455;258	ENSP00000322609:K455T;ENSP00000398581:K258T	ENSP00000322609:K455T	K	-	2	0	C1orf173	74844998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.216000	0.09266	-0.504000	0.06577	-0.302000	0.09304	AAA	C1orf173	-	NULL	ENSG00000178965		0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	334	0.00	0	T			75072410	75072410	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	235	14.86	41	SNP	0.000	G
ERICH3	127254	genome.wustl.edu	37	1	75086598	75086598	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:75086598C>A	ENST00000326665.5	-	8	1038	c.820G>T	c.(820-822)Gat>Tat	p.D274Y	C1orf173_ENST00000420661.2_Splice_Site_p.D77Y|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		274										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCTTGAATCCTGAAATAAA	0.303																																						dbGAP											0													62.0	60.0	60.0					1																	75086598		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000326665.5:c.820-1G>T	1.37:g.75086598C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.D274Y	ENST00000326665.5	37	c.820	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185343	0.38609	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22134	2.36;1.97	6.07	6.07	0.98685	.	.	.	.	.	T	0.35653	0.0939	M	0.63428	1.95	0.47245	D	0.999365	D;D	0.89917	0.999;1.0	D;D	0.74348	0.939;0.983	T	0.03887	-1.0995	9	0.87932	D	0	-11.0946	14.7645	0.69629	0.0:0.9297:0.0:0.0703	.	77;274	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	Y	274;77	ENSP00000322609:D274Y;ENSP00000398581:D77Y	ENSP00000322609:D274Y	D	-	1	0	C1orf173	74859186	1.000000	0.71417	0.991000	0.47740	0.065000	0.16274	2.568000	0.45965	2.884000	0.98904	0.655000	0.94253	GAT	C1orf173	-	NULL	ENSG00000178965		0.303	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	152	0.00	0	C		Missense_Mutation	75086598	75086598	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	108	20.00	27	SNP	1.000	A
C1orf43	25912	genome.wustl.edu	37	1	154187026	154187026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154187026G>A	ENST00000368521.5	-	3	391	c.193C>T	c.(193-195)Cga>Tga	p.R65*	C1orf43_ENST00000350592.3_Nonsense_Mutation_p.R31*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.R31*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.R65*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.R31*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.R65*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	65						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CTGGAGAGTCGAATATCAATC	0.428																																						dbGAP											0													132.0	126.0	128.0					1																	154187026		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.193C>T	1.37:g.154187026G>A	ENSP00000357507:p.Arg65*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Nonsense_Mutation	SNP	pfam_NICE-3_prd	p.R65*	ENST00000368521.5	37	c.193	CCDS41404.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.697615	0.97772	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.69	5.69	0.88448	.	0.186971	0.48767	D	0.000180	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4472	18.8071	0.92041	0.0:0.0:1.0:0.0	.	.	.	.	X	31;65;31;65;65;31	.	ENSP00000271925:R31X	R	-	1	2	C1orf43	152453650	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.480000	0.60243	2.697000	0.92050	0.650000	0.86243	CGA	C1orf43	-	pfam_NICE-3_prd	ENSG00000143612		0.428	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf43	HGNC	protein_coding	OTTHUMT00000087664.2	140	0.00	0	G	NM_015449		154187026	154187026	-1	no_errors	ENST00000368521	ensembl	human	known	69_37n	nonsense	108	23.08	33	SNP	0.998	A
C1orf204	284677	genome.wustl.edu	37	1	159810654	159810654	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:159810654C>T	ENST00000368102.1	-	4	554	c.445G>A	c.(445-447)Gca>Aca	p.A149T	C1orf204_ENST00000491974.1_Intron	NM_001134233.1	NP_001127705.1	Q5VU13	VSIG8_HUMAN	chromosome 1 open reading frame 204	109	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			kidney(1)	1						CTGGAGGCTGCGTCTAGAAAG	0.542																																						dbGAP											0													56.0	53.0	54.0					1																	159810654		692	1591	2283	-	-	-	SO:0001583	missense	0			AK096506	CCDS44253.1	1q23.1	2012-07-30			ENSG00000188004	ENSG00000188004			27647	protein-coding gene	gene with protein product							Standard	NM_001134233		Approved	FLJ39187		Q5VU13	OTTHUMG00000035430	ENST00000368102.1:c.445G>A	1.37:g.159810654C>T	ENSP00000357082:p.Ala149Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VU14	Missense_Mutation	SNP	NULL	p.A149T	ENST00000368102.1	37	c.445	CCDS44253.1	1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751041	0.49257	.	.	ENSG00000188004	ENST00000368102	.	.	.	2.93	-2.4	0.06583	.	.	.	.	.	T	0.10508	0.0257	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.32745	-0.9895	7	0.87932	D	0	.	3.2333	0.06756	0.2016:0.3945:0.0:0.4039	.	149	Q5VU13-2	.	T	149	.	ENSP00000357082:A149T	A	-	1	0	C1orf204	158077278	0.001000	0.12720	0.000000	0.03702	0.106000	0.19336	-0.022000	0.12480	-0.529000	0.06358	-0.339000	0.08088	GCA	C1orf204	-	NULL	ENSG00000188004		0.542	C1orf204-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1orf204	HGNC	protein_coding	OTTHUMT00000085976.1	56	0.00	0	C	NM_001134233		159810654	159810654	-1	no_errors	ENST00000368102	ensembl	human	novel	69_37n	missense	62	15.07	11	SNP	0.000	T
CCDC181	57821	genome.wustl.edu	37	1	169388367	169388367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169388367C>A	ENST00000367806.3	-	4	1251	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	CCDC181_ENST00000545005.1_Nonsense_Mutation_p.E367*|CCDC181_ENST00000367805.3_Nonsense_Mutation_p.E367*|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	367						nucleus (GO:0005634)											CTCTTTTTTTCTTTCTCTTCT	0.328																																						dbGAP											0													87.0	81.0	83.0					1																	169388367		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1099G>T	1.37:g.169388367C>A	ENSP00000356780:p.Glu367*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60780|Q53FD5|Q5TID9|Q8TC48	Nonsense_Mutation	SNP	NULL	p.E367*	ENST00000367806.3	37	c.1099		1	.	.	.	.	.	.	.	.	.	.	C	36	5.800377	0.96960	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	.	.	.	6.16	4.26	0.50523	.	0.362665	0.30979	N	0.008493	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-3.1945	9.7543	0.40494	0.0:0.494:0.43:0.076	.	.	.	.	X	367	.	ENSP00000356779:E367X	E	-	1	0	C1orf114	167654991	0.997000	0.39634	1.000000	0.80357	0.941000	0.58515	0.959000	0.29240	1.583000	0.49898	0.650000	0.86243	GAA	C1orf114	-	NULL	ENSG00000117477		0.328	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	559	0.00	0	C	NM_021179		169388367	169388367	-1	no_errors	ENST00000367806	ensembl	human	known	69_37n	nonsense	256	25.51	88	SNP	0.998	A
CCDC181	57821	genome.wustl.edu	37	1	169388387	169388387	+	Missense_Mutation	SNP	C	C	T	rs530288123		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169388387C>T	ENST00000367806.3	-	4	1231	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	CCDC181_ENST00000545005.1_Missense_Mutation_p.R360Q|CCDC181_ENST00000367805.3_Missense_Mutation_p.R360Q|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	360						nucleus (GO:0005634)		p.R360Q(1)									TTCTATTTTTCGTCGCTCTTC	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	skin(1)											57.0	53.0	54.0					1																	169388387		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1079G>A	1.37:g.169388387C>T	ENSP00000356780:p.Arg360Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.R360Q	ENST00000367806.3	37	c.1079		1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046858	0.55110	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005	T;T;T	0.37235	1.21;1.21;1.21	6.16	3.33	0.38152	.	0.363514	0.30210	N	0.010143	T	0.13114	0.0318	L	0.51422	1.61	0.32970	D	0.522228	P;P;P	0.42357	0.535;0.777;0.777	B;B;B	0.33196	0.049;0.159;0.159	T	0.04191	-1.0970	9	0.48119	T	0.1	-1.3997	9.1164	0.36760	0.0:0.7246:0.0:0.2754	.	360;360;360	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	360	ENSP00000356779:R360Q;ENSP00000356780:R360Q;ENSP00000442297:R360Q	ENSP00000356779:R360Q	R	-	2	0	C1orf114	167655011	0.149000	0.22717	0.967000	0.41034	0.993000	0.82548	0.236000	0.17967	0.495000	0.27882	0.650000	0.86243	CGA	C1orf114	-	NULL	ENSG00000117477		0.303	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	431	0.00	0	C	NM_021179		169388387	169388387	-1	no_errors	ENST00000367806	ensembl	human	known	69_37n	missense	216	15.95	41	SNP	0.997	T
CCDC181	57821	genome.wustl.edu	37	1	169390682	169390682	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169390682C>A	ENST00000367806.3	-	3	1139	c.987G>T	c.(985-987)gtG>gtT	p.V329V	CCDC181_ENST00000545005.1_Silent_p.V329V|CCDC181_ENST00000367805.3_Silent_p.V329V|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	329						nucleus (GO:0005634)											ATGTTGAAGTCACTGGTGAGA	0.428																																						dbGAP											0													141.0	127.0	132.0					1																	169390682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.987G>T	1.37:g.169390682C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	NULL	p.V329	ENST00000367806.3	37	c.987		1																																																																																			C1orf114	-	NULL	ENSG00000117477		0.428	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	390	0.00	0	C	NM_021179		169390682	169390682	-1	no_errors	ENST00000367806	ensembl	human	known	69_37n	silent	213	15.81	40	SNP	0.359	A
C1orf140	400804	genome.wustl.edu	37	1	221509431	221509431	+	lincRNA	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:221509431T>G	ENST00000439004.1	-	0	207					NR_024236.1																						CTGGGTCATTTTATGAACTGT	0.448																																						dbGAP											0													93.0	84.0	87.0					1																	221509431		692	1591	2283	-	-	-			0																															1.37:g.221509431T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000439004.1	37	NULL		1																																																																																			RP11-421L10.1	-	-	ENSG00000234754		0.448	RP11-421L10.1-001	KNOWN	basic	lincRNA	C1orf140	Clone_based_vega_gene	lincRNA	OTTHUMT00000091116.2	379	0.00	0	T			221509431	221509431	-1	no_errors	ENST00000439004	ensembl	human	putative	69_37n	rna	302	11.70	40	SNP	0.000	G
C1orf101	257044	genome.wustl.edu	37	1	244724432	244724432	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:244724432C>A	ENST00000366534.4	+	10	1546	c.1492C>A	c.(1492-1494)Cat>Aat	p.H498N	C1orf101_ENST00000366531.3_Missense_Mutation_p.H347N|C1orf101_ENST00000366533.4_Missense_Mutation_p.H498N|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	498						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CAGCATTATTCATGAAGTTTT	0.328																																						dbGAP											0													77.0	78.0	78.0					1																	244724432		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1492C>A	1.37:g.244724432C>A	ENSP00000355492:p.His498Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.H498N	ENST00000366534.4	37	c.1492	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902580	0.52227	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.95	3.04	0.35103	.	0.231178	0.30401	N	0.009720	T	0.28267	0.0698	L	0.59436	1.845	0.19575	N	0.999968	B;P;P;P	0.52316	0.192;0.902;0.952;0.782	B;B;P;B	0.46543	0.063;0.439;0.52;0.274	T	0.09684	-1.0663	10	0.49607	T	0.09	.	8.5618	0.33516	0.1735:0.6592:0.1672:0.0	.	418;498;498;347	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	N	498;498;498;418;347	ENSP00000355492:H498N;ENSP00000355491:H498N;ENSP00000395796:H418N;ENSP00000355489:H347N	ENSP00000355489:H347N	H	+	1	0	C1orf101	242791055	0.999000	0.42202	0.331000	0.25455	0.413000	0.31143	1.613000	0.36900	0.566000	0.29273	0.563000	0.77884	CAT	C1orf101	-	NULL	ENSG00000179397		0.328	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	79	0.00	0	C	NM_173807		244724432	244724432	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	0.505	A
C20orf96	140680	genome.wustl.edu	37	20	256619	256619	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:256619G>A	ENST00000360321.2	-	10	1159	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	C20orf96_ENST00000382369.5_Missense_Mutation_p.R306W	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	341										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTGGGTCTCCGAAGCAGAACA	0.542																																						dbGAP											0													109.0	103.0	105.0					20																	256619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.1021C>T	20.37:g.256619G>A	ENSP00000353470:p.Arg341Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	NULL	p.R341W	ENST00000360321.2	37	c.1021	CCDS12994.1	20	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564382	0.65651	.	.	ENSG00000196476	ENST00000382369;ENST00000360321	T;T	0.52295	0.67;0.67	5.02	5.02	0.67125	.	0.433889	0.19944	N	0.102568	T	0.64616	0.2614	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.66011	-0.6029	10	0.87932	D	0	-5.0E-4	13.7179	0.62710	0.0:0.0:1.0:0.0	.	341;306	Q9NUD7;Q5JYC3	CT096_HUMAN;.	W	306;341	ENSP00000371806:R306W;ENSP00000353470:R341W	ENSP00000353470:R341W	R	-	1	2	C20orf96	204619	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.231000	0.58639	2.626000	0.88956	0.484000	0.47621	CGG	C20orf96	-	NULL	ENSG00000196476		0.542	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf96	HGNC	protein_coding	OTTHUMT00000077439.2	90	0.00	0	G	NM_153269		256619	256619	-1	no_errors	ENST00000360321	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	A
C20orf194	25943	genome.wustl.edu	37	20	3274857	3274857	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:3274857C>A	ENST00000252032.9	-	25	2233	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	C20orf194_ENST00000453730.2_Silent_p.V460V|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	722										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGGTCCGCATCACAGGCTCCT	0.478																																						dbGAP											0													75.0	70.0	71.0					20																	3274857		1933	4159	6092	-	-	-	SO:0001819	synonymous_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2166G>T	20.37:g.3274857C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	NULL	p.V722	ENST00000252032.9	37	c.2166	CCDS42851.1	20																																																																																			C20orf194	-	NULL	ENSG00000088854		0.478	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	117	0.85	1	C	NM_001009984		3274857	3274857	-1	no_errors	ENST00000252032	ensembl	human	known	69_37n	silent	71	29.70	30	SNP	0.999	A
SLX4IP	128710	genome.wustl.edu	37	20	10603715	10603715	+	Silent	SNP	C	C	T	rs538348335	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:10603715C>T	ENST00000334534.5	+	8	1095	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	305																	CGGAAGACTTCGACCACCACG	0.493																																						dbGAP											0													90.0	100.0	97.0					20																	10603715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.915C>T	20.37:g.10603715C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05CG2|Q05CT9	Silent	SNP	NULL	p.F305	ENST00000334534.5	37	c.915	CCDS33439.1	20																																																																																			C20orf94	-	NULL	ENSG00000149346		0.493	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf94	HGNC	protein_coding	OTTHUMT00000078000.3	171	0.00	0	C	NM_001009608		10603715	10603715	+1	no_errors	ENST00000334534	ensembl	human	known	69_37n	silent	127	13.51	20	SNP	0.050	T
MGME1	92667	genome.wustl.edu	37	20	17970710	17970710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:17970710G>T	ENST00000377704.4	+	3	726	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	MGME1_ENST00000377709.1_Missense_Mutation_p.K251N|MGME1_ENST00000377710.5_Missense_Mutation_p.K331N|MGME1_ENST00000467391.1_3'UTR					mitochondrial genome maintenance exonuclease 1																		ATACGGAAAAGAAAAAGAACC	0.418																																						dbGAP											0													64.0	66.0	65.0					20																	17970710		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377704.4:c.640G>T	20.37:g.17970710G>T	ENSP00000366933:p.Glu214*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E214*	ENST00000377704.4	37	c.640		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.994335|2.994335	0.54041|0.54041	.|.	.|.	ENSG00000125871|ENSG00000125871	ENST00000377704|ENST00000377710;ENST00000377709	.|T;T	.|0.53423	.|0.62;0.72	5.96|5.96	2.56|2.56	0.30785|0.30785	.|.	.|0.125201	.|0.64402	.|D	.|0.000001	.|T	.|0.64843	.|0.2635	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.65874	.|0.939	.|T	.|0.68014	.|-0.5521	.|10	0.32370|0.56958	T|D	0.25|0.05	-17.4798|-17.4798	11.9144|11.9144	0.52757|0.52757	0.2287:0.0:0.7713:0.0|0.2287:0.0:0.7713:0.0	.|.	.|331	.|Q9BQP7	.|CT072_HUMAN	X|N	214|331;251	.|ENSP00000366939:K331N;ENSP00000366938:K251N	ENSP00000366933:E214X|ENSP00000366938:K251N	E|K	+|+	1|3	0|2	C20orf72|C20orf72	17918710|17918710	0.999000|0.999000	0.42202|0.42202	0.858000|0.858000	0.33744|0.33744	0.385000|0.385000	0.30292|0.30292	1.625000|1.625000	0.37029|0.37029	0.879000|0.879000	0.35944|0.35944	-0.122000|-0.122000	0.15005|0.15005	GAA|AAG	C20orf72	-	NULL	ENSG00000125871		0.418	MGME1-003	KNOWN	basic	protein_coding	C20orf72	HGNC	protein_coding	OTTHUMT00000078141.1	103	0.00	0	G	NM_052865		17970710	17970710	+1	no_errors	ENST00000377704	ensembl	human	known	69_37n	nonsense	116	12.12	16	SNP	0.995	T
C20orf24	55969	genome.wustl.edu	37	20	35240525	35240525	+	3'UTR	SNP	C	C	T	rs190742083		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:35240525C>T	ENST00000373852.5	+	0	624				C20orf24_ENST00000342422.3_Missense_Mutation_p.R111C|TGIF2-C20orf24_ENST00000558530.1_3'UTR|C20orf24_ENST00000344795.3_3'UTR			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGAACTTGATCGTTGGGGAAC	0.512																																						dbGAP											0													276.0	275.0	276.0					20																	35240525		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.*75C>T	20.37:g.35240525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	NULL	p.R111C	ENST00000373852.5	37	c.331	CCDS56190.1	20	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.802	0.517055	0.13005	.	.	ENSG00000101084	ENST00000342422	.	.	.	6.04	-0.531	0.11894	.	2.794520	0.01352	N	0.011927	T	0.19725	0.0474	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28459	-1.0043	9	0.87932	D	0	-16.5582	3.0349	0.06118	0.321:0.2673:0.0:0.4117	.	111	Q5QPG6	.	C	111	.	ENSP00000341213:R111C	R	+	1	0	C20orf24	34673939	0.014000	0.17966	0.000000	0.03702	0.151000	0.21798	0.392000	0.20801	0.168000	0.19655	-0.367000	0.07326	CGT	C20orf24	-	NULL	ENSG00000101084		0.512	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	HGNC	protein_coding	OTTHUMT00000079006.1	153	0.00	0	C	NM_018840		35240525	35240525	+1	no_errors	ENST00000342422	ensembl	human	putative	69_37n	missense	144	13.25	22	SNP	0.000	T
MROH8	140699	genome.wustl.edu	37	20	35769623	35769623	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:35769623C>T	ENST00000400441.3	-	12	1429	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	MROH8_ENST00000441008.2_Missense_Mutation_p.R463Q|MROH8_ENST00000217333.8_Intron			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	362																	TCCTGCTGATCGCTGGATGCA	0.398																																						dbGAP											0													104.0	91.0	95.0					20																	35769623		1850	4098	5948	-	-	-	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1430G>A	20.37:g.35769623C>T	ENSP00000383291:p.Arg477Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R477Q	ENST00000400441.3	37	c.1430		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.012|0.012	-1.683796|-1.683796	0.00745|0.00745	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811;ENST00000400440|ENST00000441008;ENST00000400441	.|T;T	.|0.04917	.|3.53;3.53	6.01|6.01	-0.84|-0.84	0.10755|0.10755	.|.	.|1.456540	.|0.03831	.|N	.|0.269030	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12013	.|0.001;0.005;0.005	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.39313|0.39313	-0.9620|-0.9620	5|10	.|0.14252	.|T	.|0.57	2.5778|2.5778	1.1912|1.1912	0.01865|0.01865	0.1382:0.2376:0.1434:0.4808|0.1382:0.2376:0.1434:0.4808	.|.	.|477;362;487	.|E7ETR9;Q9H579;Q6PF12	.|.;CT132_HUMAN;.	N|Q	504;508|463;477	.|ENSP00000392144:R463Q;ENSP00000383291:R477Q	.|ENSP00000383291:R477Q	D|R	-|-	1|2	0|0	C20orf132|C20orf132	35203037|35203037	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	-0.234000|-0.234000	0.09028|0.09028	-0.369000|-0.369000	0.08028|0.08028	-0.290000|-0.290000	0.09829|0.09829	GAT|CGA	C20orf132	-	superfamily_ARM-type_fold	ENSG00000101353		0.398	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		138	0.00	0	C	NM_152503		35769623	35769623	-1	no_errors	ENST00000400441	ensembl	human	known	69_37n	missense	148	12.94	22	SNP	0.000	T
C21orf62	56245	genome.wustl.edu	37	21	34166649	34166649	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:34166649C>A	ENST00000536776.1	-	2	224	c.84G>T	c.(82-84)aaG>aaT	p.K28N	C21orf62_ENST00000479548.1_Missense_Mutation_p.K28N|C21orf62_ENST00000490358.1_Missense_Mutation_p.K28N|C21orf62_ENST00000487113.1_Missense_Mutation_p.K28N|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382378.1_Intron	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GCGTGCTGTTCTTCTGACCTT	0.522																																						dbGAP											0													89.0	89.0	89.0					21																	34166649		2027	4191	6218	-	-	-	SO:0001583	missense	0			AF231922	CCDS42919.1, CCDS42919.2	21q22.1	2011-02-24			ENSG00000205929	ENSG00000205929			1305	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 120"""	C21orf120			Standard	NM_001162495		Approved	B37, PRED81	uc011adu.2	Q9NYP8	OTTHUMG00000163477	ENST00000536776.1:c.84G>T	21.37:g.34166649C>A	ENSP00000444950:p.Lys28Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4L8	Missense_Mutation	SNP	NULL	p.K28N	ENST00000536776.1	37	c.84	CCDS42919.2	21	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625266	0.28889	.	.	ENSG00000205929	ENST00000536776;ENST00000490358;ENST00000487113;ENST00000382373;ENST00000479548	.	.	.	4.58	2.71	0.32032	.	1.368940	0.05385	U	0.537977	T	0.34919	0.0914	M	0.62723	1.935	0.27482	N	0.952553	P	0.43701	0.815	B	0.35607	0.206	T	0.35450	-0.9788	9	0.56958	D	0.05	.	7.4718	0.27353	0.0:0.7387:0.1695:0.0918	.	28	Q9NYP8	CU062_HUMAN	N	28;28;28;75;28	.	ENSP00000371810:K75N	K	-	3	2	C21orf62	33088519	0.700000	0.27796	0.764000	0.31436	0.612000	0.37316	1.005000	0.29834	0.898000	0.36418	0.462000	0.41574	AAG	C21orf62	-	NULL	ENSG00000205929		0.522	C21orf62-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf62	HGNC	protein_coding	OTTHUMT00000139598.5	72	0.00	0	C	NM_019596		34166649	34166649	-1	no_errors	ENST00000479548	ensembl	human	known	69_37n	missense	77	11.49	10	SNP	0.858	A
B3GALT5	10317	genome.wustl.edu	37	21	40969882	40969882	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:40969882G>T	ENST00000380620.4	+	2	69				C21orf88_ENST00000380612.4_Missense_Mutation_p.L63M|C21orf88_ENST00000489821.1_5'UTR			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				acgaagcacagaagccagcag	0.493																																						dbGAP											0													78.0	93.0	89.0					21																	40969882		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.-523-7139G>T	21.37:g.40969882G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	NULL	p.L63M	ENST00000380620.4	37	c.187	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	G	10.06	1.248012	0.22880	.	.	ENSG00000184809	ENST00000380612	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	T	0.59609	0.2206	.	.	.	0.38845	D	0.956155	.	.	.	.	.	.	T	0.63014	-0.6731	5	0.87932	D	0	.	5.4907	0.16774	0.0:0.0:1.0:0.0	.	.	.	.	M	63	.	ENSP00000369986:L63M	L	-	1	2	C21orf88	39891752	0.005000	0.15991	0.519000	0.27824	0.891000	0.51852	1.116000	0.31221	0.873000	0.35799	0.650000	0.86243	CTG	C21orf88	-	NULL	ENSG00000184809		0.493	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf88	HGNC	protein_coding	OTTHUMT00000195008.2	272	0.00	0	G	NM_033170		40969882	40969882	-1	no_errors	ENST00000380612	ensembl	human	putative	69_37n	missense	170	19.72	42	SNP	0.659	T
GUCD1	83606	genome.wustl.edu	37	22	24942921	24942921	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:24942921A>C	ENST00000407471.3	-	4	537	c.347T>G	c.(346-348)tTt>tGt	p.F116C	GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000402766.1_Missense_Mutation_p.F116C|GUCD1_ENST00000404664.3_Missense_Mutation_p.F172C|GUCD1_ENST00000447813.2_Missense_Mutation_p.F116C|GUCD1_ENST00000435822.1_Missense_Mutation_p.F116C	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	116																	TGCTTGTGCAAACAGCTGATT	0.562																																						dbGAP											0													106.0	104.0	104.0					22																	24942921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.347T>G	22.37:g.24942921A>C	ENSP00000386076:p.Phe116Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	pfam_Guanylyl_cyclase	p.F116C	ENST00000407471.3	37	c.347	CCDS33621.1	22	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587573	0.86851	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;0.998;1.0	D	0.86915	0.2063	9	0.87932	D	0	-11.113	15.3177	0.74095	1.0:0.0:0.0:0.0	.	116;172;180;116;116	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	C	116;116;172;116;116;116	.	ENSP00000381297:F116C	F	-	2	0	C22orf13	23272921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.449000	0.90337	2.212000	0.71576	0.533000	0.62120	TTT	C22orf13	-	pfam_Guanylyl_cyclase	ENSG00000138867		0.562	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C22orf13	HGNC	protein_coding	OTTHUMT00000319819.1	164	0.00	0	A	NM_031444		24942921	24942921	-1	no_errors	ENST00000407471	ensembl	human	known	69_37n	missense	135	19.64	33	SNP	1.000	C
C22orf24	25775	genome.wustl.edu	37	22	32330257	32330257	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32330257T>C	ENST00000248984.3	-	3	496	c.330A>G	c.(328-330)gcA>gcG	p.A110A	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_Silent_p.A177A	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	110						integral component of membrane (GO:0016021)				central_nervous_system(1)|urinary_tract(1)	2						acctgctatatgccaagcaca	0.517																																						dbGAP											0													65.0	66.0	66.0					22																	32330257		2007	4172	6179	-	-	-	SO:0001819	synonymous_variant	0				CCDS46693.1	22q12.1-q12.3	2004-05-05			ENSG00000128254	ENSG00000128254			23051	protein-coding gene	gene with protein product							Standard	XM_005261497		Approved	HSN44A4A	uc003aly.3	Q9Y442	OTTHUMG00000030834	ENST00000248984.3:c.330A>G	22.37:g.32330257T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCT4|Q5K3R1	Silent	SNP	NULL	p.A177	ENST00000248984.3	37	c.531	CCDS46693.1	22																																																																																			C22orf24	-	NULL	ENSG00000128254		0.517	C22orf24-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C22orf24	HGNC	protein_coding	OTTHUMT00000075722.2	183	0.00	0	T	NM_015372		32330257	32330257	-1	no_errors	ENST00000543051	ensembl	human	known	69_37n	silent	159	13.11	24	SNP	0.054	C
C2CD4D	100191040	genome.wustl.edu	37	1	151810517	151810517	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151810517G>A	ENST00000454109.1	-	2	1534	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C		NM_001136003.1	NP_001129475.1	B7Z1M9	C2D4D_HUMAN	C2 calcium-dependent domain containing 4D	317	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.									skin(1)	1						ACATCCCTGCGAAGTCCCGCG	0.692																																						dbGAP											0													28.0	35.0	33.0					1																	151810517		692	1591	2283	-	-	-	SO:0001583	missense	0			BC171843	CCDS44224.1	1q21.3	2012-07-02			ENSG00000225556	ENSG00000225556			37210	protein-coding gene	gene with protein product	"""family with sequence similarity 148, member D"""						Standard	NM_001136003		Approved	FAM148D	uc010pdq.1	B7Z1M9	OTTHUMG00000167218	ENST00000454109.1:c.949C>T	1.37:g.151810517G>A	ENSP00000389554:p.Arg317Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG8	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R317C	ENST00000454109.1	37	c.949	CCDS44224.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611453	0.66558	.	.	ENSG00000225556	ENST00000454109	T	0.41065	1.01	3.43	3.43	0.39272	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.45677	0.1354	L	0.46157	1.445	0.43372	D	0.99546	D	0.89917	1.0	D	0.74674	0.984	T	0.49113	-0.8973	9	0.66056	D	0.02	.	12.3933	0.55370	0.0:0.0:1.0:0.0	.	317	B7Z1M9	C2D4D_HUMAN	C	317	ENSP00000389554:R317C	ENSP00000389554:R317C	R	-	1	0	C2CD4D	150077141	1.000000	0.71417	0.942000	0.38095	0.864000	0.49448	4.884000	0.63135	1.757000	0.51966	0.455000	0.32223	CGC	C2CD4D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000225556		0.692	C2CD4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD4D	HGNC	protein_coding	OTTHUMT00000393778.1	47	0.00	0	G	NM_001136003		151810517	151810517	-1	no_errors	ENST00000454109	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	A
C2orf16	84226	genome.wustl.edu	37	2	27801842	27801842	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27801842C>T	ENST00000408964.2	+	1	2454	c.2403C>T	c.(2401-2403)tcC>tcT	p.S801S	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	801						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCAAAGCTCCGATAAGACAG	0.403																																						dbGAP											0													215.0	212.0	213.0					2																	27801842		1846	4091	5937	-	-	-	SO:0001819	synonymous_variant	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2403C>T	2.37:g.27801842C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	NULL	p.S801	ENST00000408964.2	37	c.2403	CCDS42666.1	2																																																																																			C2orf16	-	NULL	ENSG00000221843		0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	241	0.00	0	C	NM_032266		27801842	27801842	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	silent	159	23.92	50	SNP	0.001	T
C2orf16	84226	genome.wustl.edu	37	2	27803769	27803769	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27803769G>T	ENST00000408964.2	+	1	4381	c.4330G>T	c.(4330-4332)Gct>Tct	p.A1444S	RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1444						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCAAGAAGAGCTTACTCTTT	0.532																																						dbGAP											0													95.0	100.0	98.0					2																	27803769		2021	4173	6194	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4330G>T	2.37:g.27803769G>T	ENSP00000386190:p.Ala1444Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.A1444S	ENST00000408964.2	37	c.4330	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648996	0.29336	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	5.01	2.21	0.28008	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.16289	0.015	T	0.48581	-0.9023	9	0.19147	T	0.46	.	7.7797	0.29058	0.2719:0.0:0.7281:0.0	.	1444	Q68DN1	CB016_HUMAN	S	1444	ENSP00000386190:A1444S	ENSP00000386190:A1444S	A	+	1	0	C2orf16	27657273	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.925000	0.28791	0.235000	0.21160	-0.251000	0.11542	GCT	C2orf16	-	NULL	ENSG00000221843		0.532	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	60	0.00	0	G	NM_032266		27803769	27803769	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.001	T
C2orf16	84226	genome.wustl.edu	37	2	27804053	27804053	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27804053G>A	ENST00000408964.2	+	1	4665	c.4614G>A	c.(4612-4614)gaG>gaA	p.E1538E	RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1538						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACACAAGGAGCATAACCACC	0.537																																						dbGAP											0													115.0	117.0	116.0					2																	27804053		1924	4121	6045	-	-	-	SO:0001819	synonymous_variant	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4614G>A	2.37:g.27804053G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	NULL	p.E1538	ENST00000408964.2	37	c.4614	CCDS42666.1	2																																																																																			C2orf16	-	NULL	ENSG00000221843		0.537	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	122	0.00	0	G	NM_032266		27804053	27804053	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	silent	116	11.45	15	SNP	0.555	A
C2orf16	84226	genome.wustl.edu	37	2	27804162	27804162	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27804162C>T	ENST00000408964.2	+	1	4774	c.4723C>T	c.(4723-4725)Cgc>Tgc	p.R1575C	RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1575	Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGAAGCCAACGCAGTTCCTT	0.552																																						dbGAP											0													106.0	108.0	107.0					2																	27804162		1902	4118	6020	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4723C>T	2.37:g.27804162C>T	ENSP00000386190:p.Arg1575Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.R1575C	ENST00000408964.2	37	c.4723	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308444	0.40895	.	.	ENSG00000221843	ENST00000408964	T	0.07021	3.23	3.59	-0.898	0.10550	.	.	.	.	.	T	0.06462	0.0166	L	0.44542	1.39	0.09310	N	1	B	0.21821	0.061	B	0.06405	0.002	T	0.36890	-0.9729	9	0.37606	T	0.19	.	4.3581	0.11188	0.3052:0.4925:0.0:0.2023	.	1575	Q68DN1	CB016_HUMAN	C	1575	ENSP00000386190:R1575C	ENSP00000386190:R1575C	R	+	1	0	C2orf16	27657666	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-0.114000	0.10757	-0.162000	0.10964	0.205000	0.17691	CGC	C2orf16	-	NULL	ENSG00000221843		0.552	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	83	0.00	0	C	NM_032266		27804162	27804162	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	0.000	T
C2orf40	84417	genome.wustl.edu	37	2	106688319	106688319	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:106688319A>C	ENST00000238044.3	+	2	208	c.99A>C	c.(97-99)aaA>aaC	p.K33N	C2orf40_ENST00000409944.1_5'UTR|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	33					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						GTGGAAATAAACTCAAGCTGA	0.368																																						dbGAP											0													115.0	110.0	112.0					2																	106688319		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.99A>C	2.37:g.106688319A>C	ENSP00000238044:p.Lys33Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVK2	Missense_Mutation	SNP	NULL	p.K33N	ENST00000238044.3	37	c.99	CCDS2072.1	2	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034851	0.54896	.	.	ENSG00000119147	ENST00000238044;ENST00000437659	T;T	0.49139	0.79;0.79	5.97	1.0	0.19881	.	0.180413	0.47852	D	0.000208	T	0.49064	0.1535	M	0.67953	2.075	0.42527	D	0.99302	P	0.51351	0.944	P	0.47645	0.553	T	0.50466	-0.8825	10	0.62326	D	0.03	-15.8008	10.0797	0.42381	0.6632:0.0:0.3368:0.0	.	33	Q9H1Z8	AUGN_HUMAN	N	33;35	ENSP00000238044:K33N;ENSP00000388664:K35N	ENSP00000238044:K33N	K	+	3	2	C2orf40	106054751	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	0.863000	0.27913	-0.049000	0.13379	0.528000	0.53228	AAA	C2orf40	-	NULL	ENSG00000119147		0.368	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	214	0.00	0	A	NM_032411		106688319	106688319	+1	no_errors	ENST00000238044	ensembl	human	known	69_37n	missense	142	15.48	26	SNP	0.996	C
C2orf71	388939	genome.wustl.edu	37	2	29293604	29293604	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:29293604G>A	ENST00000331664.5	-	1	3523	c.3524C>T	c.(3523-3525)tCg>tTg	p.S1175L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1175					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTCCGCTGCGAGTCTGCTCT	0.657																																						dbGAP											0													39.0	45.0	43.0					2																	29293604		2093	4215	6308	-	-	-	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3524C>T	2.37:g.29293604G>A	ENSP00000332809:p.Ser1175Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S1175L	ENST00000331664.5	37	c.3524	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	G	8.084	0.772985	0.16051	.	.	ENSG00000179270	ENST00000331664	T	0.20463	2.07	5.31	3.51	0.40186	.	1.102720	0.06938	N	0.812306	T	0.16128	0.0388	L	0.50333	1.59	0.09310	N	1	B	0.32829	0.386	B	0.18871	0.023	T	0.38265	-0.9669	10	0.59425	D	0.04	-2.6124	0.9503	0.01374	0.2283:0.1282:0.3894:0.2541	.	1175	A6NGG8	CB071_HUMAN	L	1175	ENSP00000332809:S1175L	ENSP00000332809:S1175L	S	-	2	0	C2orf71	29147108	0.006000	0.16342	0.002000	0.10522	0.002000	0.02628	0.760000	0.26475	0.627000	0.30340	0.655000	0.94253	TCG	C2orf71	-	NULL	ENSG00000179270		0.657	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	51	0.00	0	G	NM_001029883		29293604	29293604	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	missense	31	31.11	14	SNP	0.000	A
C2orf71	388939	genome.wustl.edu	37	2	29294777	29294777	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:29294777G>T	ENST00000331664.5	-	1	2350	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	784					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATGCTGGAGAAATTTGGGG	0.537																																						dbGAP											0													57.0	58.0	57.0					2																	29294777		1888	4132	6020	-	-	-	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2351C>A	2.37:g.29294777G>T	ENSP00000332809:p.Ser784Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S784Y	ENST00000331664.5	37	c.2351	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	G	7.940	0.742629	0.15642	.	.	ENSG00000179270	ENST00000331664	T	0.21361	2.01	5.73	4.82	0.62117	.	0.446700	0.23770	N	0.044731	T	0.37652	0.1011	L	0.56769	1.78	0.20196	N	0.999925	D	0.89917	1.0	D	0.73380	0.98	T	0.13926	-1.0491	10	0.52906	T	0.07	-18.5796	8.3552	0.32327	0.1352:0.1306:0.7343:0.0	.	784	A6NGG8	CB071_HUMAN	Y	784	ENSP00000332809:S784Y	ENSP00000332809:S784Y	S	-	2	0	C2orf71	29148281	0.993000	0.37304	0.978000	0.43139	0.131000	0.20780	2.634000	0.46528	2.697000	0.92050	0.650000	0.86243	TCT	C2orf71	-	NULL	ENSG00000179270		0.537	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	43	0.00	0	G	NM_001029883		29294777	29294777	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	missense	25	19.35	6	SNP	0.338	T
NDUFAF7	55471	genome.wustl.edu	37	2	37464946	37464946	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:37464946G>A	ENST00000002125.4	+	4	384	c.344G>A	c.(343-345)aGc>aAc	p.S115N	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.S88N|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	115					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										ACTGGAAAAAGCACAGCTTTC	0.383																																						dbGAP											0													53.0	63.0	59.0					2																	37464946		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.344G>A	2.37:g.37464946G>A	ENSP00000002125:p.Ser115Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z399|Q9P1G3	Missense_Mutation	SNP	pfam_MidA	p.S115N	ENST00000002125.4	37	c.344	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611429	0.28712	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.84	-1.89	0.07689	.	0.628278	0.17379	N	0.176367	T	0.61286	0.2335	L	0.28192	0.835	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.002	B;B;B;B	0.10450	0.005;0.003;0.002;0.005	T	0.48592	-0.9022	10	0.56958	D	0.05	-0.964	8.5944	0.33707	0.3943:0.4088:0.1968:0.0	.	88;115;88;115	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	N	115;88;36;73;73;73	ENSP00000002125:S115N;ENSP00000337431:S88N;ENSP00000399207:S36N;ENSP00000410181:S73N;ENSP00000394436:S73N;ENSP00000402959:S73N	ENSP00000002125:S115N	S	+	2	0	C2orf56	37318450	0.004000	0.15560	0.001000	0.08648	0.862000	0.49288	0.072000	0.14617	-0.760000	0.04677	0.655000	0.94253	AGC	C2orf56	-	pfam_MidA	ENSG00000003509		0.383	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf56	HGNC	protein_coding	OTTHUMT00000250267.1	392	0.25	1	G	NM_144736		37464946	37464946	+1	no_errors	ENST00000002125	ensembl	human	known	69_37n	missense	334	18.09	74	SNP	0.006	A
C2orf78	388960	genome.wustl.edu	37	2	74043300	74043300	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74043300C>A	ENST00000409561.1	+	3	2071	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512																																						dbGAP											0													50.0	51.0	51.0					2																	74043300		1875	4103	5978	-	-	-	SO:0001583	missense	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1950C>A	2.37:g.74043300C>A	ENSP00000387124:p.Phe650Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.F650L	ENST00000409561.1	37	c.1950	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.956740	0.00465	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.38077	1.16	4.73	1.89	0.25635	.	1.478270	0.04432	N	0.369457	T	0.16257	0.0391	N	0.04203	-0.255	0.21604	N	0.999627	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	10	0.11794	T	0.64	-0.3841	3.901	0.09161	0.1673:0.5793:0.1618:0.0915	.	650	A6NCI8	CB078_HUMAN	L	650;620	ENSP00000387124:F650L	ENSP00000340692:F620L	F	+	3	2	C2orf78	73896808	0.000000	0.05858	0.147000	0.22382	0.011000	0.07611	-0.154000	0.10130	0.268000	0.21939	-0.261000	0.10672	TTC	C2orf78	-	NULL	ENSG00000187833		0.512	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	64	0.00	0	C	NM_001080474		74043300	74043300	+1	no_errors	ENST00000409561	ensembl	human	novel	69_37n	missense	40	34.43	21	SNP	0.587	A
TEX37	200523	genome.wustl.edu	37	2	88828687	88828687	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:88828687G>T	ENST00000303254.3	+	4	380	c.238G>T	c.(238-240)Gac>Tac	p.D80Y		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	80						nucleus (GO:0005634)		p.D80Y(1)									GACTGCCAAAGACCTGGGACT	0.547																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											119.0	113.0	115.0					2																	88828687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.238G>T	2.37:g.88828687G>T	ENSP00000307142:p.Asp80Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D80Y	ENST00000303254.3	37	c.238	CCDS2003.1	2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027690	0.54790	.	.	ENSG00000172073	ENST00000303254	T	0.58940	0.3	4.61	4.61	0.57282	.	0.000000	0.51477	D	0.000096	T	0.66268	0.2772	L	0.36672	1.1	0.42236	D	0.991912	D	0.89917	1.0	D	0.97110	1.0	T	0.69250	-0.5194	10	0.87932	D	0	-32.6341	13.1466	0.59465	0.0:0.0:1.0:0.0	.	80	Q96LM6	TSC21_HUMAN	Y	80	ENSP00000307142:D80Y	ENSP00000307142:D80Y	D	+	1	0	C2orf51	88609802	0.998000	0.40836	0.958000	0.39756	0.485000	0.33311	3.932000	0.56537	2.561000	0.86390	0.462000	0.41574	GAC	C2orf51	-	NULL	ENSG00000172073		0.547	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf51	HGNC	protein_coding	OTTHUMT00000252682.1	235	0.42	1	G	NM_152670		88828687	88828687	+1	no_errors	ENST00000303254	ensembl	human	known	69_37n	missense	221	12.99	33	SNP	0.973	T
C2orf47	79568	genome.wustl.edu	37	2	200826635	200826635	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:200826635C>A	ENST00000392290.1	+	4	977	c.781C>A	c.(781-783)Ctt>Att	p.L261I	C2orf47_ENST00000469156.1_Intron|C2orf47_ENST00000295079.2_Missense_Mutation_p.L261I			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	261						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TAAACAACTTCTTAGTGCAAG	0.378																																						dbGAP											0													116.0	110.0	112.0					2																	200826635		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.781C>A	2.37:g.200826635C>A	ENSP00000376111:p.Leu261Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658V9|Q9H671	Missense_Mutation	SNP	NULL	p.L261I	ENST00000392290.1	37	c.781	CCDS2329.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024665	0.75390	.	.	ENSG00000162972	ENST00000295079;ENST00000392290	T;T	0.50001	0.76;0.76	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000003	T	0.49115	0.1538	L	0.55481	1.735	0.46396	D	0.999026	P	0.45715	0.865	P	0.46585	0.521	T	0.44772	-0.9306	10	0.44086	T	0.13	-15.1845	11.4709	0.50268	0.0:0.9189:0.0:0.0811	.	261	Q8WWC4	CB047_HUMAN	I	261	ENSP00000295079:L261I;ENSP00000376111:L261I	ENSP00000295079:L261I	L	+	1	0	C2orf47	200534880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.929000	0.40114	2.880000	0.98712	0.650000	0.86243	CTT	C2orf47	-	NULL	ENSG00000162972		0.378	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf47	HGNC	protein_coding	OTTHUMT00000256146.1	331	0.00	0	C	NM_024520		200826635	200826635	+1	no_errors	ENST00000295079	ensembl	human	known	69_37n	missense	207	10.39	24	SNP	1.000	A
C3	718	genome.wustl.edu	37	19	6680217	6680217	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6680217C>T	ENST00000245907.6	-	36	4500	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K	C3_ENST00000599668.1_5'Flank	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1470					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGGATAAGCTCTACATTAAAG	0.537																																						dbGAP											0													110.0	105.0	106.0					19																	6680217		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4408G>A	19.37:g.6680217C>T	ENSP00000245907:p.Glu1470Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E1470K	ENST00000245907.6	37	c.4408	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210790	0.39102	.	.	ENSG00000125730	ENST00000245907	T	0.20881	2.04	4.97	3.91	0.45181	Alpha-macroglobulin, receptor-binding (3);	0.111156	0.64402	D	0.000010	T	0.11707	0.0285	N	0.04880	-0.145	0.24397	N	0.994721	B	0.33637	0.42	B	0.36766	0.232	T	0.17623	-1.0363	10	0.41790	T	0.15	.	11.4371	0.50074	0.0:0.9058:0.0:0.0942	.	1470	P01024	CO3_HUMAN	K	1470	ENSP00000245907:E1470K	ENSP00000245907:E1470K	E	-	1	0	C3	6631217	0.975000	0.34042	0.185000	0.23176	0.231000	0.25187	3.515000	0.53429	1.060000	0.40578	0.580000	0.79431	GAG	C3	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000125730		0.537	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	92	0.00	0	C	NM_000064		6680217	6680217	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	missense	67	26.37	24	SNP	0.986	T
C3orf17	25871	genome.wustl.edu	37	3	112724438	112724438	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:112724438C>T	ENST00000314400.5	-	9	1840	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000383675.2_Missense_Mutation_p.G480E|C3orf17_ENST00000393857.2_Missense_Mutation_p.G414E	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	550					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTTAATGGTTCCTGATGTACT	0.338																																						dbGAP											0													191.0	170.0	177.0					3																	112724438		2202	4299	6501	-	-	-	SO:0001583	missense	0			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1649G>A	3.37:g.112724438C>T	ENSP00000320251:p.Gly550Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	NULL	p.G550E	ENST00000314400.5	37	c.1649	CCDS33824.1	3	.	.	.	.	.	.	.	.	.	.	C	8.434	0.849265	0.17034	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.15718	2.66;2.66;2.4	5.9	2.74	0.32292	.	0.488008	0.19223	N	0.119618	T	0.13756	0.0333	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.27351	0.01;0.041;0.041;0.176	B;B;B;B	0.23150	0.015;0.044;0.007;0.025	T	0.19289	-1.0310	10	0.25751	T	0.34	-4.1701	6.1832	0.20484	0.0:0.6541:0.0:0.3459	.	439;347;480;550	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	E	550;480;197;414	ENSP00000320251:G550E;ENSP00000373173:G480E;ENSP00000377438:G414E	ENSP00000320251:G550E	G	-	2	0	C3orf17	114207128	0.000000	0.05858	0.045000	0.18777	0.822000	0.46500	-0.373000	0.07494	0.815000	0.34398	0.655000	0.94253	GGA	C3orf17	-	NULL	ENSG00000163608		0.338	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf17	HGNC	protein_coding	OTTHUMT00000354405.3	494	0.00	0	C	NM_015412		112724438	112724438	-1	no_errors	ENST00000314400	ensembl	human	known	69_37n	missense	329	24.43	107	SNP	0.006	T
FANCD2OS	115795	genome.wustl.edu	37	3	10123020	10123020	+	3'UTR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:10123020T>G	ENST00000524279.1	-	0	997				FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000383807.1_Intron|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000419585.1_Intron|FANCD2_ENST00000287647.3_Intron	NM_173472.1	NP_775743.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand																		AAAATCATTTTTATTTTTAGT	0.398																																						dbGAP											0													141.0	142.0	141.0					3																	10123020		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000524279.1:c.*239A>C	3.37:g.10123020T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000524279.1	37	NULL	CCDS2596.1	3																																																																																			C3orf24	-	-	ENSG00000163705		0.398	FANCD2OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf24	HGNC	protein_coding	OTTHUMT00000250561.3	457	0.22	1	T	NM_173472		10123020	10123020	-1	no_errors	ENST00000431315	ensembl	human	known	69_37n	rna	332	29.36	138	SNP	0.007	G
CCDC174	51244	genome.wustl.edu	37	3	14703099	14703099	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:14703099G>T	ENST00000383794.3	+	5	443	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	CCDC174_ENST00000303688.7_Nonsense_Mutation_p.E124*	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	124						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGCGCAAAGAAATGGAGGC	0.443																																						dbGAP											0													128.0	123.0	125.0					3																	14703099		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.370G>T	3.37:g.14703099G>T	ENSP00000373304:p.Glu124*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96CS5	Nonsense_Mutation	SNP	NULL	p.E124*	ENST00000383794.3	37	c.370	CCDS2620.2	3	.	.	.	.	.	.	.	.	.	.	G	36	5.812641	0.96975	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.898	18.5057	0.90896	0.0:0.0:1.0:0.0	.	.	.	.	X	124;124;29	.	ENSP00000285042:E29X	E	+	1	0	C3orf19	14678103	1.000000	0.71417	0.463000	0.27130	0.976000	0.68499	7.013000	0.76373	2.660000	0.90430	0.467000	0.42956	GAA	C3orf19	-	NULL	ENSG00000154781		0.443	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf19	HGNC	protein_coding	OTTHUMT00000252077.2	128	0.00	0	G	NM_016474		14703099	14703099	+1	no_errors	ENST00000383794	ensembl	human	known	69_37n	nonsense	112	28.66	45	SNP	0.998	T
C3orf20	84077	genome.wustl.edu	37	3	14746120	14746120	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463																																						dbGAP											0													196.0	177.0	184.0					3																	14746120		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1155C>T	3.37:g.14746120C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.F385	ENST00000253697.3	37	c.1155	CCDS33706.1	3																																																																																			C3orf20	-	NULL	ENSG00000131379		0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	210	0.00	0	C	NM_032137		14746120	14746120	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	silent	111	25.00	37	SNP	0.961	T
C3orf35	339883	genome.wustl.edu	37	3	37459027	37459027	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37459027C>A	ENST00000328376.5	+	5	1205				C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Silent_p.V90V|C3orf35_ENST00000425564.2_Silent_p.V90V|C3orf35_ENST00000452017.2_Intron|C3orf35_ENST00000426078.1_Silent_p.V90V	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						AAGTTAATGTCTTTGGGGCAA	0.428																																						dbGAP											0													80.0	76.0	78.0					3																	37459027		1856	4100	5956	-	-	-	SO:0001627	intron_variant	0			AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.226+44C>A	3.37:g.37459027C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZMA0|Q8IVJ5|Q8IVJ9	Silent	SNP	NULL	p.V90	ENST00000328376.5	37	c.270	CCDS43065.1	3																																																																																			C3orf35	-	NULL	ENSG00000198590		0.428	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C3orf35	HGNC	protein_coding	OTTHUMT00000342344.2	514	0.00	0	C	NM_178338		37459027	37459027	+1	no_errors	ENST00000425564	ensembl	human	known	69_37n	silent	335	24.38	108	SNP	0.000	A
C3orf38	285237	genome.wustl.edu	37	3	88205420	88205420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:88205420G>T	ENST00000318887.3	+	3	935	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	209					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTAAAAGAAGAATTTCTTTT	0.428																																						dbGAP											0													131.0	126.0	128.0					3																	88205420		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.625G>T	3.37:g.88205420G>T	ENSP00000322469:p.Glu209*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8X6|Q8TC85	Nonsense_Mutation	SNP	NULL	p.E209*	ENST00000318887.3	37	c.625	CCDS2921.2	3	.	.	.	.	.	.	.	.	.	.	G	38	7.250131	0.98164	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.896	19.0963	0.93253	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000322469:E209X	E	+	1	0	C3orf38	88288110	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.928000	0.92853	2.751000	0.94390	0.557000	0.71058	GAA	C3orf38	-	NULL	ENSG00000179021		0.428	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf38	HGNC	protein_coding	OTTHUMT00000341513.1	120	0.00	0	G	NM_173824		88205420	88205420	+1	no_errors	ENST00000318887	ensembl	human	known	69_37n	nonsense	79	11.24	10	SNP	1.000	T
CMSS1	84319	genome.wustl.edu	37	3	99886630	99886630	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:99886630C>T	ENST00000421999.2	+	6	610	c.464C>T	c.(463-465)tCg>tTg	p.S155L	CMSS1_ENST00000489081.1_Missense_Mutation_p.S137L	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	155							poly(A) RNA binding (GO:0044822)										GAGAAGAAATCGGTCCTGATG	0.418																																						dbGAP											0													174.0	180.0	178.0					3																	99886630		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.464C>T	3.37:g.99886630C>T	ENSP00000410396:p.Ser155Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.S155L	ENST00000421999.2	37	c.464	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	C	30	5.051385	0.93740	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.35789	1.29;1.29;1.29	5.62	5.62	0.85841	DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116646	0.64402	D	0.000011	T	0.58722	0.2142	M	0.65320	2	0.54753	D	0.999987	D	0.89917	1.0	D	0.81914	0.995	T	0.54886	-0.8226	9	.	.	.	.	18.2327	0.89939	0.0:1.0:0.0:0.0	.	155	Q9BQ75	CC026_HUMAN	L	155;137;111	ENSP00000410396:S155L;ENSP00000419161:S137L;ENSP00000417293:S111L	.	S	+	2	0	C3orf26	101369320	1.000000	0.71417	0.937000	0.37676	0.954000	0.61252	6.502000	0.73695	2.642000	0.89623	0.655000	0.94253	TCG	C3orf26	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N	ENSG00000184220		0.418	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf26	HGNC	protein_coding	OTTHUMT00000353060.1	453	0.00	0	C	NM_032359		99886630	99886630	+1	no_errors	ENST00000421999	ensembl	human	known	69_37n	missense	244	25.38	84	SNP	0.996	T
C3orf17	25871	genome.wustl.edu	37	3	112724600	112724600	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:112724600C>A	ENST00000314400.5	-	9	1678	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000383675.2_Missense_Mutation_p.R426I|C3orf17_ENST00000393857.2_Missense_Mutation_p.R360I	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	496					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GAGATCAGTTCTATGCACAGT	0.423																																						dbGAP											0													132.0	123.0	126.0					3																	112724600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1487G>T	3.37:g.112724600C>A	ENSP00000320251:p.Arg496Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	NULL	p.R496I	ENST00000314400.5	37	c.1487	CCDS33824.1	3	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385077	0.61956	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.36340	1.26;1.26;1.26	5.9	1.01	0.19927	.	0.742875	0.13380	N	0.392233	T	0.37732	0.1014	L	0.59436	1.845	0.09310	N	0.999993	P;P;P;P	0.49559	0.703;0.703;0.859;0.925	B;B;B;P	0.48840	0.249;0.336;0.329;0.592	T	0.23084	-1.0198	10	0.87932	D	0	-1.3218	4.8868	0.13706	0.0:0.4669:0.2928:0.2403	.	385;293;426;496	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	I	496;426;143;360	ENSP00000320251:R496I;ENSP00000373173:R426I;ENSP00000377438:R360I	ENSP00000320251:R496I	R	-	2	0	C3orf17	114207290	0.005000	0.15991	0.001000	0.08648	0.123000	0.20343	-0.132000	0.10467	0.104000	0.17725	-0.137000	0.14449	AGA	C3orf17	-	NULL	ENSG00000163608		0.423	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf17	HGNC	protein_coding	OTTHUMT00000354405.3	259	0.00	0	C	NM_015412		112724600	112724600	-1	no_errors	ENST00000314400	ensembl	human	known	69_37n	missense	180	15.49	33	SNP	0.001	A
TOPAZ1	375337	genome.wustl.edu	37	3	44284504	44284504	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44284504G>T	ENST00000309765.4	+	2	674	c.506G>T	c.(505-507)aGa>aTa	p.R169I		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	169						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										ATTAAAAGAAGAATTCGAAAT	0.333																																						dbGAP											0													40.0	36.0	37.0					3																	44284504		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.506G>T	3.37:g.44284504G>T	ENSP00000310303:p.Arg169Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R169I	ENST00000309765.4	37	c.506	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774192	0.49786	.	.	ENSG00000173769	ENST00000309765	T	0.12361	2.69	5.46	2.25	0.28309	.	0.270973	0.37715	N	0.001965	T	0.17195	0.0413	L	0.34521	1.04	0.45791	D	0.998673	D	0.57571	0.98	P	0.56700	0.804	T	0.01537	-1.1330	10	0.72032	D	0.01	-13.053	7.2443	0.26114	0.368:0.0:0.632:0.0	.	169	Q8N9V7	CC077_HUMAN	I	169	ENSP00000310303:R169I	ENSP00000310303:R169I	R	+	2	0	C3orf77	44259508	0.013000	0.17824	1.000000	0.80357	0.910000	0.53928	-0.152000	0.10159	0.693000	0.31634	0.655000	0.94253	AGA	C3orf77	-	NULL	ENSG00000173769		0.333	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf77	HGNC	protein_coding	OTTHUMT00000343247.1	97	0.00	0	G	NM_001145030		44284504	44284504	+1	no_errors	ENST00000309765	ensembl	human	known	69_37n	missense	53	31.17	24	SNP	0.999	T
TOPAZ1	375337	genome.wustl.edu	37	3	44284509	44284509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44284509C>T	ENST00000309765.4	+	2	679	c.511C>T	c.(511-513)Cga>Tga	p.R171*		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	171						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										AAGAAGAATTCGAAATAAAAA	0.328																																						dbGAP											0													38.0	34.0	35.0					3																	44284509		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.511C>T	3.37:g.44284509C>T	ENSP00000310303:p.Arg171*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.R171*	ENST00000309765.4	37	c.511	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030740	0.93575	.	.	ENSG00000173769	ENST00000309765	.	.	.	5.68	3.73	0.42828	.	1.257310	0.05772	N	0.606901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4492	6.1236	0.20167	0.2729:0.6306:0.0:0.0965	.	.	.	.	X	171	.	ENSP00000310303:R171X	R	+	1	2	C3orf77	44259513	0.000000	0.05858	0.946000	0.38457	0.609000	0.37215	0.073000	0.14640	1.423000	0.47198	-0.136000	0.14681	CGA	C3orf77	-	NULL	ENSG00000173769		0.328	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf77	HGNC	protein_coding	OTTHUMT00000343247.1	92	0.00	0	C	NM_001145030		44284509	44284509	+1	no_errors	ENST00000309765	ensembl	human	known	69_37n	nonsense	66	12.00	9	SNP	0.713	T
TOPAZ1	375337	genome.wustl.edu	37	3	44328962	44328962	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44328962C>A	ENST00000309765.4	+	10	3686	c.3518C>A	c.(3517-3519)tCt>tAt	p.S1173Y		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	1173						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										CTTCTAAATTCTTTACTCAAA	0.294																																						dbGAP											0													85.0	75.0	78.0					3																	44328962		692	1578	2270	-	-	-	SO:0001583	missense	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.3518C>A	3.37:g.44328962C>A	ENSP00000310303:p.Ser1173Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S1173Y	ENST00000309765.4	37	c.3518	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526690	0.64860	.	.	ENSG00000173769	ENST00000309765	T	0.15372	2.43	5.94	5.02	0.67125	.	.	.	.	.	T	0.15392	0.0371	L	0.27053	0.805	0.31135	N	0.707242	P	0.40332	0.713	B	0.41571	0.36	T	0.03221	-1.1059	9	0.87932	D	0	-3.8217	11.5422	0.50673	0.1378:0.7291:0.133:0.0	.	1173	Q8N9V7	CC077_HUMAN	Y	1173	ENSP00000310303:S1173Y	ENSP00000310303:S1173Y	S	+	2	0	C3orf77	44303966	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	2.242000	0.43106	2.816000	0.96949	0.561000	0.74099	TCT	C3orf77	-	NULL	ENSG00000173769		0.294	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf77	HGNC	protein_coding	OTTHUMT00000343247.1	192	0.00	0	C	NM_001145030		44328962	44328962	+1	no_errors	ENST00000309765	ensembl	human	known	69_37n	missense	137	29.38	57	SNP	1.000	A
C3orf67	200844	genome.wustl.edu	37	3	58870322	58870322	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:58870322G>A	ENST00000482387.1	-	3	385	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R97C|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R17C|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408																																						dbGAP											0													211.0	202.0	205.0					3																	58870322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.289C>T	3.37:g.58870322G>A	ENSP00000417122:p.Arg97Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.R97C	ENST00000482387.1	37	c.289		3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995835	0.74703	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51071	0.72;0.72;0.72	5.61	5.61	0.85477	.	0.410282	0.27906	N	0.017375	T	0.61311	0.2337	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.88	T	0.57412	-0.7816	9	.	.	.	-1.7255	16.5603	0.84551	0.0:0.0:1.0:0.0	.	17;97	C9J3M8;Q6ZVT6-2	.;.	C	97;97;17	ENSP00000295966:R97C;ENSP00000417122:R97C;ENSP00000417271:R17C	.	R	-	1	0	C3orf67	58845362	0.998000	0.40836	0.987000	0.45799	0.588000	0.36517	3.374000	0.52402	2.638000	0.89438	0.655000	0.94253	CGC	C3orf67	-	NULL	ENSG00000163689		0.408	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	173	0.00	0	G	NM_198463		58870322	58870322	-1	no_errors	ENST00000482387	ensembl	human	known	69_37n	missense	112	17.04	23	SNP	0.977	A
SMCO1	255798	genome.wustl.edu	37	3	196234827	196234827	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:196234827C>A	ENST00000397537.2	-	3	732	c.576G>T	c.(574-576)ggG>ggT	p.G192G		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	192						integral component of membrane (GO:0016021)											TAACTGCTTTCCCCTTCTCAA	0.458																																						dbGAP											0													109.0	103.0	105.0					3																	196234827		1943	4150	6093	-	-	-	SO:0001819	synonymous_variant	0			AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.576G>T	3.37:g.196234827C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW20	Silent	SNP	NULL	p.G192	ENST00000397537.2	37	c.576	CCDS43192.1	3																																																																																			C3orf43	-	NULL	ENSG00000214097		0.458	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf43	HGNC	protein_coding	OTTHUMT00000340776.1	392	0.00	0	C	NM_001006109		196234827	196234827	-1	no_errors	ENST00000397537	ensembl	human	known	69_37n	silent	268	10.07	30	SNP	0.944	A
C4BPA	722	genome.wustl.edu	37	1	207314502	207314502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207314502C>A	ENST00000367070.3	+	10	1519	c.1325C>A	c.(1324-1326)tCa>tAa	p.S442*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	442	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CAATCTAGTTCATACAGCTTT	0.378																																						dbGAP											0													86.0	84.0	85.0					1																	207314502		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1325C>A	1.37:g.207314502C>A	ENSP00000356037:p.Ser442*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVQ8	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S442*	ENST00000367070.3	37	c.1325	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698564	0.48307	.	.	ENSG00000123838	ENST00000367070	.	.	.	5.08	-10.2	0.00374	.	15.500600	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	2.364	0.04314	0.1122:0.4315:0.2125:0.2438	.	.	.	.	X	442	.	ENSP00000356037:S442X	S	+	2	0	C4BPA	205381125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.730000	0.01855	-9.137000	0.00000	-1.731000	0.00696	TCA	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000123838		0.378	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	250	0.00	0	C			207314502	207314502	+1	no_errors	ENST00000367070	ensembl	human	known	69_37n	nonsense	120	13.04	18	SNP	0.000	A
C4orf17	84103	genome.wustl.edu	37	4	100434274	100434274	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:100434274C>T	ENST00000326581.4	+	2	398	c.36C>T	c.(34-36)atC>atT	p.I12I	C4orf17_ENST00000514652.1_Silent_p.I12I	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	12										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CTCTTCAGATCGAGGGCAAAG	0.463																																						dbGAP											0													97.0	81.0	86.0					4																	100434274		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.36C>T	4.37:g.100434274C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Silent	SNP	NULL	p.I12	ENST00000326581.4	37	c.36	CCDS3649.1	4																																																																																			C4orf17	-	NULL	ENSG00000138813		0.463	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf17	HGNC	protein_coding	OTTHUMT00000253670.2	156	0.00	0	C	NM_032149		100434274	100434274	+1	no_errors	ENST00000326581	ensembl	human	known	69_37n	silent	138	28.93	57	SNP	0.000	T
ZGRF1	55345	genome.wustl.edu	37	4	113510823	113510824	+	Intron	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:113510823_113510824insA	ENST00000505019.1	-	11	3253				C4orf21_ENST00000309071.5_Frame_Shift_Ins_p.I1062fs	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN								integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATCTCTCAAATAAAAAACTTCA	0.327																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0																														ENST00000505019.1:c.3127+55->T	4.37:g.113510829_113510829dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Frame_Shift_Ins	INS	pfam_DUF2439	p.I1061fs	ENST00000505019.1	37	c.3184_3183		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.327	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	181	0.00	0	-			113510823	113510824	-1	no_errors	ENST00000309071	ensembl	human	known	69_37n	frame_shift_ins	120	19.46	29	INS	0.000:0.000	A
ZGRF1	55345	genome.wustl.edu	37	4	113510941	113510941	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:113510941G>T	ENST00000505019.1	-	11	3191	c.3066C>A	c.(3064-3066)ttC>ttA	p.F1022L	C4orf21_ENST00000309071.5_Missense_Mutation_p.F1022L	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1022						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACGTCTCAGAGAATTCTACCA	0.388																																						dbGAP											0													96.0	97.0	97.0					4																	113510941		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000505019.1:c.3066C>A	4.37:g.113510941G>T	ENSP00000424737:p.Phe1022Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.F1022L	ENST00000505019.1	37	c.3066		4	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047278	0.19827	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	T;T	0.81247	-1.47;2.16	5.11	4.13	0.48395	.	0.000000	0.45867	D	0.000322	T	0.71728	0.3374	L	0.48362	1.52	0.80722	D	1	B;B	0.32467	0.372;0.023	B;B	0.29267	0.1;0.019	T	0.72931	-0.4142	10	0.52906	T	0.07	-10.1021	9.5518	0.39315	0.0:0.0:0.7388:0.2611	.	1022;1022	Q86YA3;G5EA02	CD021_HUMAN;.	L	1022	ENSP00000424737:F1022L;ENSP00000309095:F1022L	ENSP00000309095:F1022L	F	-	3	2	C4orf21	113730390	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	1.233000	0.32648	2.524000	0.85096	0.585000	0.79938	TTC	C4orf21	-	NULL	ENSG00000138658		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	243	0.00	0	G			113510941	113510941	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	missense	158	18.97	37	SNP	0.996	T
C4orf32	132720	genome.wustl.edu	37	4	113107901	113107901	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:113107901A>C	ENST00000309733.5	+	2	390	c.206A>C	c.(205-207)aAg>aCg	p.K69T		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	69						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GATGACTACAAGAAAATGGGA	0.363																																						dbGAP											0													140.0	134.0	136.0					4																	113107901		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.206A>C	4.37:g.113107901A>C	ENSP00000310182:p.Lys69Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A91|Q4W5C7|Q8TBF9	Missense_Mutation	SNP	NULL	p.K69T	ENST00000309733.5	37	c.206	CCDS3695.1	4	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561988	0.65538	.	.	ENSG00000174749	ENST00000309733	T	0.49720	0.77	5.71	3.3	0.37823	.	0.133611	0.64402	D	0.000002	T	0.57784	0.2077	L	0.59436	1.845	0.44627	D	0.997604	D	0.67145	0.996	D	0.63793	0.918	T	0.52139	-0.8615	10	0.34782	T	0.22	-9.8153	9.6973	0.40165	0.86:0.0:0.14:0.0	.	69	Q8N8J7	CD032_HUMAN	T	69	ENSP00000310182:K69T	ENSP00000310182:K69T	K	+	2	0	C4orf32	113327350	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.470000	0.60175	0.454000	0.26884	0.477000	0.44152	AAG	C4orf32	-	NULL	ENSG00000174749		0.363	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf32	HGNC	protein_coding	OTTHUMT00000256325.2	328	0.00	0	A	NM_152400		113107901	113107901	+1	no_errors	ENST00000309733	ensembl	human	known	69_37n	missense	156	27.31	59	SNP	1.000	C
C4orf29	80167	genome.wustl.edu	37	4	128951736	128951736	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:128951736C>T	ENST00000444616.1	+	11	1397	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	C4orf29_ENST00000388795.5_Nonsense_Mutation_p.R336*|C4orf29_ENST00000398965.1_Nonsense_Mutation_p.R384*			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	384						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AACAGGAGTTCGAAGTTTACA	0.388																																						dbGAP											0													86.0	85.0	86.0					4																	128951736		1838	4091	5929	-	-	-	SO:0001587	stop_gained	0			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.1150C>T	4.37:g.128951736C>T	ENSP00000397229:p.Arg384*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4W8|A1A4W9|Q9H7A7	Nonsense_Mutation	SNP	pfam_DUF2048	p.R384*	ENST00000444616.1	37	c.1150		4	.	.	.	.	.	.	.	.	.	.	C	39	7.612352	0.98390	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.17	3.42	0.39159	.	0.064498	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-11.8174	14.188	0.65620	0.2733:0.7267:0.0:0.0	.	.	.	.	X	384;215;384;384;336;302;291	.	ENSP00000373447:R336X	R	+	1	2	C4orf29	129171186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.464000	0.60134	0.563000	0.29222	-0.169000	0.13324	CGA	C4orf29	-	pfam_DUF2048	ENSG00000164074		0.388	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	186	0.00	0	C	NM_001039717		128951736	128951736	+1	no_errors	ENST00000398965	ensembl	human	known	69_37n	nonsense	145	28.22	57	SNP	1.000	T
C5AR1	728	genome.wustl.edu	37	19	47823968	47823968	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:47823968C>T	ENST00000355085.3	+	2	956	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	312					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.R312W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GGGCCGACTGCGGAAATCCCT	0.587																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											93.0	86.0	88.0					19																	47823968		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.934C>T	19.37:g.47823968C>T	ENSP00000347197:p.Arg312Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_C5A_anaphtx_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.R312W	ENST00000355085.3	37	c.934	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199013	0.58126	.	.	ENSG00000197405	ENST00000355085	T	0.40225	1.04	5.02	3.98	0.46160	.	0.899553	0.09411	U	0.805824	T	0.51686	0.1689	L	0.61218	1.895	0.09310	N	1	D	0.64830	0.994	P	0.53360	0.724	T	0.38112	-0.9676	10	0.66056	D	0.02	.	8.001	0.30297	0.1573:0.7589:0.0:0.0838	.	312	P21730	C5AR_HUMAN	W	312	ENSP00000347197:R312W	ENSP00000347197:R312W	R	+	1	2	C5AR1	52515808	0.000000	0.05858	0.002000	0.10522	0.104000	0.19210	-0.056000	0.11787	1.224000	0.43551	0.579000	0.79373	CGG	C5AR1	-	prints_Anphylx_rcpt,prints_Brdyknn_rcpt	ENSG00000197405		0.587	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	53	0.00	0	C	NM_001736		47823968	47823968	+1	no_errors	ENST00000355085	ensembl	human	known	69_37n	missense	55	11.29	7	SNP	0.001	T
C5orf28	64417	genome.wustl.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:43446488G>A	ENST00000500337.2	-	5	815	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_ENST00000397080.3_Missense_Mutation_p.R162C|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.R162C|C5orf28_ENST00000510130.1_Missense_Mutation_p.R60C|C5orf28_ENST00000537319.1_Missense_Mutation_p.R31C			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	162						integral component of membrane (GO:0016021)		p.R162C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											120.0	113.0	115.0					5																	43446488		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.484C>T	5.37:g.43446488G>A	ENSP00000426067:p.Arg162Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA6|Q9H6Z2	Missense_Mutation	SNP	NULL	p.R162C	ENST00000500337.2	37	c.484	CCDS3945.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.396156	0.96009	.	.	ENSG00000151881	ENST00000500337;ENST00000537319;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.044157	0.85682	D	0.000000	D	0.85869	0.5797	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-16.6988	20.3697	0.98890	0.0:0.0:1.0:0.0	.	162	Q0VDI3	CE028_HUMAN	C	162;31;162;162;60;162	.	ENSP00000380270:R162C	R	-	1	0	C5orf28	43482245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CGT	C5orf28	-	NULL	ENSG00000151881		0.388	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C5orf28	HGNC	protein_coding	OTTHUMT00000368003.1	353	0.00	0	G	NM_022483		43446488	43446488	-1	no_errors	ENST00000397080	ensembl	human	known	69_37n	missense	272	12.54	39	SNP	1.000	A
C5orf42	65250	genome.wustl.edu	37	5	37224364	37224364	+	Missense_Mutation	SNP	C	C	T	rs533506472		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:37224364C>T	ENST00000508244.1	-	13	2665	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	C5orf42_ENST00000274258.7_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.E858K			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	858						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCTCTTCGATTTCTTGT	0.323																																						dbGAP											0													247.0	180.0	201.0					5																	37224364		692	1588	2280	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2572G>A	5.37:g.37224364C>T	ENSP00000421690:p.Glu858Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.E858K	ENST00000508244.1	37	c.2572	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	4.005	-0.001812	0.07819	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.21031	2.03;2.03	5.38	2.15	0.27550	.	1.247540	0.06127	U	0.669972	T	0.07638	0.0192	N	0.02539	-0.55	0.21967	N	0.999447	B	0.02656	0.0	B	0.04013	0.001	T	0.36915	-0.9728	10	0.15499	T	0.54	3.2737	3.2665	0.06867	0.0904:0.1154:0.4552:0.339	.	858	E9PH94	.	K	858	ENSP00000421690:E858K;ENSP00000389014:E858K	ENSP00000389014:E858K	E	-	1	0	C5orf42	37260121	0.736000	0.28164	0.330000	0.25442	0.410000	0.31052	1.384000	0.34396	0.774000	0.33427	-0.147000	0.13772	GAA	C5orf42	-	NULL	ENSG00000197603		0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	105	0.00	0	C	NM_023073		37224364	37224364	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	102	12.07	14	SNP	0.192	T
C5orf51	285636	genome.wustl.edu	37	5	41917380	41917380	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41917380C>A	ENST00000381647.2	+	6	883	c.864C>A	c.(862-864)ttC>ttA	p.F288L		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	288										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTTTAAACTTCTTTCATCATC	0.328																																						dbGAP											0													66.0	65.0	66.0					5																	41917380		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.864C>A	5.37:g.41917380C>A	ENSP00000371061:p.Phe288Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM9	Missense_Mutation	SNP	NULL	p.F288L	ENST00000381647.2	37	c.864	CCDS34151.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014922	0.75161	.	.	ENSG00000205765	ENST00000381647	T	0.42131	0.98	5.79	4.91	0.64330	.	0.106866	0.64402	D	0.000005	T	0.33702	0.0872	L	0.27053	0.805	0.32437	N	0.547209	P	0.47191	0.891	P	0.45610	0.487	T	0.40270	-0.9572	10	0.39692	T	0.17	0.2161	10.7963	0.46461	0.0:0.8569:0.0:0.1431	.	288	A6NDU8	CE051_HUMAN	L	288	ENSP00000371061:F288L	ENSP00000371061:F288L	F	+	3	2	C5orf51	41953137	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	1.544000	0.36158	2.718000	0.92993	0.655000	0.94253	TTC	C5orf51	-	NULL	ENSG00000205765		0.328	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf51	HGNC	protein_coding	OTTHUMT00000367144.1	313	0.00	0	C	NM_175921		41917380	41917380	+1	no_errors	ENST00000381647	ensembl	human	known	69_37n	missense	265	16.67	53	SNP	1.000	A
C5orf28	64417	genome.wustl.edu	37	5	43446635	43446635	+	Missense_Mutation	SNP	G	G	A	rs187882024		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:43446635G>A	ENST00000500337.2	-	5	668	c.337C>T	c.(337-339)Cct>Tct	p.P113S	C5orf28_ENST00000397080.3_Missense_Mutation_p.P113S|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Missense_Mutation_p.P113S|C5orf28_ENST00000510130.1_Missense_Mutation_p.P11S|C5orf28_ENST00000537319.1_5'UTR			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	113						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					TGAAGGAAAGGTCTTCGCGGG	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		17091	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													62.0	57.0	59.0					5																	43446635		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.337C>T	5.37:g.43446635G>A	ENSP00000426067:p.Pro113Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA6|Q9H6Z2	Missense_Mutation	SNP	NULL	p.P113S	ENST00000500337.2	37	c.337	CCDS3945.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	34	5.316314	0.95655	.	.	ENSG00000151881	ENST00000500337;ENST00000397080;ENST00000512085;ENST00000510130;ENST00000506860	.	.	.	5.95	5.95	0.96441	.	0.140306	0.64402	D	0.000003	D	0.85869	0.5797	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87265	0.2282	9	0.87932	D	0	-23.721	20.3697	0.98890	0.0:0.0:1.0:0.0	.	113	Q0VDI3	CE028_HUMAN	S	113;113;113;11;113	.	ENSP00000380270:P113S	P	-	1	0	C5orf28	43482392	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.471000	0.97696	2.811000	0.96726	0.655000	0.94253	CCT	C5orf28	-	NULL	ENSG00000151881		0.408	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C5orf28	HGNC	protein_coding	OTTHUMT00000368003.1	120	0.00	0	G	NM_022483		43446635	43446635	-1	no_errors	ENST00000397080	ensembl	human	known	69_37n	missense	85	13.27	13	SNP	1.000	A
C6orf10	10665	genome.wustl.edu	37	6	32260988	32260988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:32260988C>A	ENST00000447241.2	-	23	1634	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	C6orf10_ENST00000533191.1_Nonsense_Mutation_p.E486*|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Nonsense_Mutation_p.E472*|C6orf10_ENST00000375007.4_Nonsense_Mutation_p.E486*|C6orf10_ENST00000375015.4_Nonsense_Mutation_p.E487*	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	488	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCCTTCTTTTCTTGGGCTTCC	0.378																																						dbGAP											0													205.0	228.0	220.0					6																	32260988		1511	2709	4220	-	-	-	SO:0001587	stop_gained	0			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1462G>T	6.37:g.32260988C>A	ENSP00000415517:p.Glu488*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Nonsense_Mutation	SNP	NULL	p.E488*	ENST00000447241.2	37	c.1462	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410335	0.62399	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	.	.	.	3.21	2.32	0.28847	.	.	.	.	.	.	.	.	.	.	.	0.46437	D	0.999048	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.546	8.0758	0.30716	0.0:0.8697:0.0:0.1303	.	.	.	.	X	488;487;486;472;486;485;485	.	ENSP00000303292:E485X	E	-	1	0	C6orf10	32368966	0.028000	0.19301	0.010000	0.14722	0.043000	0.13939	2.841000	0.48223	1.815000	0.52974	0.555000	0.69702	GAA	C6orf10	-	NULL	ENSG00000204296		0.378	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	52	0.00	0	C	NM_006781		32260988	32260988	-1	no_errors	ENST00000447241	ensembl	human	known	69_37n	nonsense	29	23.68	9	SNP	0.000	A
C6orf10	10665	genome.wustl.edu	37	6	32291368	32291368	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:32291368C>T	ENST00000447241.2	-	17	710	c.538G>A	c.(538-540)Ggt>Agt	p.G180S	C6orf10_ENST00000533191.1_Splice_Site_p.G164S|C6orf10_ENST00000442822.2_Splice_Site_p.G157S|C6orf10_ENST00000527965.1_Splice_Site_p.G157S|C6orf10_ENST00000375007.4_Splice_Site_p.G178S|C6orf10_ENST00000375015.4_Splice_Site_p.G172S	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	180						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGAACTTACCGCGGGGTGCT	0.413																																						dbGAP											0													108.0	79.0	90.0					6																	32291368		1511	2709	4220	-	-	-	SO:0001630	splice_region_variant	0			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.538+1G>A	6.37:g.32291368C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	NULL	p.G180S	ENST00000447241.2	37	c.538	CCDS34422.1	6	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390529	0.25118	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000305725	T;T;T;T;T;T	0.12361	3.44;2.69;3.38;3.39;3.42;3.35	3.75	1.83	0.25207	.	.	.	.	.	T	0.04588	0.0125	L	0.46157	1.445	0.09310	N	1	.	.	.	.	.	.	T	0.43393	-0.9394	7	0.20519	T	0.43	.	6.265	0.20922	0.2141:0.5784:0.2075:0.0	.	.	.	.	S	157;180;172;164;157;178;170	ENSP00000411164:G157S;ENSP00000415517:G180S;ENSP00000364155:G172S;ENSP00000431199:G164S;ENSP00000435103:G157S;ENSP00000364146:G178S	ENSP00000303292:G170S	G	-	1	0	C6orf10	32399346	0.015000	0.18098	0.100000	0.21137	0.007000	0.05969	-0.262000	0.08682	0.488000	0.27723	-0.176000	0.13171	GGT	C6orf10	-	NULL	ENSG00000204296		0.413	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf10	HGNC	protein_coding	OTTHUMT00000076178.4	82	0.00	0	C	NM_006781	Missense_Mutation	32291368	32291368	-1	no_errors	ENST00000447241	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	0.134	T
C6orf201	404220	genome.wustl.edu	37	6	4099316	4099316	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:4099316G>A	ENST00000380175.4	+	3	933	c.168G>A	c.(166-168)ccG>ccA	p.P56P	C6orf201_ENST00000430835.2_Silent_p.P56P|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.P59P	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	56										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCCCAAAGCCGAACAGAATGC	0.418																																						dbGAP											0													112.0	103.0	106.0					6																	4099316		1848	4089	5937	-	-	-	SO:0001819	synonymous_variant	0			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.168G>A	6.37:g.4099316G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLI6|Q6NXN5	Silent	SNP	NULL	p.P59	ENST00000380175.4	37	c.177	CCDS43419.1	6																																																																																			C6orf201	-	NULL	ENSG00000185689		0.418	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	C6orf201	HGNC	protein_coding	OTTHUMT00000314019.2	241	0.00	0	G	NM_001085401		4099316	4099316	+1	no_errors	ENST00000333388	ensembl	human	known	69_37n	silent	141	29.00	58	SNP	0.980	A
C6orf222	389384	genome.wustl.edu	37	6	36287170	36287170	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:36287170T>C	ENST00000437635.2	-	11	2063	c.1886A>G	c.(1885-1887)tAc>tGc	p.Y629C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	629										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGCAATTGTAGTGGTCTCT	0.552																																						dbGAP											0													138.0	121.0	127.0					6																	36287170		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1886A>G	6.37:g.36287170T>C	ENSP00000418983:p.Tyr629Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTY8	Missense_Mutation	SNP	NULL	p.Y629C	ENST00000437635.2	37	c.1886	CCDS34439.1	6	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339868	0.60963	.	.	ENSG00000189325	ENST00000437635	T	0.51817	0.69	5.32	-2.8	0.05823	.	2.079590	0.02221	N	0.064015	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.21917	0.037	T	0.22977	-1.0201	10	0.72032	D	0.01	-12.9993	1.6544	0.02779	0.1301:0.2517:0.1331:0.4851	.	629	P0C671	CF222_HUMAN	C	629	ENSP00000418983:Y629C	ENSP00000418983:Y629C	Y	-	2	0	C6orf222	36395148	0.000000	0.05858	0.000000	0.03702	0.383000	0.30230	-0.279000	0.08479	-0.264000	0.09365	0.460000	0.39030	TAC	C6orf222	-	NULL	ENSG00000189325		0.552	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	102	0.00	0	T	NM_001010903		36287170	36287170	-1	no_errors	ENST00000437635	ensembl	human	known	69_37n	missense	71	11.11	9	SNP	0.000	C
OARD1	221443	genome.wustl.edu	37	6	41036673	41036673	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:41036673G>A	ENST00000479950.1	-	5	576	c.263C>T	c.(262-264)tCg>tTg	p.S88L	OARD1_ENST00000464633.1_Intron|OARD1_ENST00000486443.1_Missense_Mutation_p.S49L|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.S88L|OARD1_ENST00000463088.1_Missense_Mutation_p.S88L|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.S88L|OARD1_ENST00000467234.1_5'Flank			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1	88	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)										TGGCTTGTGCGAAGCCCTTTT	0.413																																						dbGAP											0													86.0	86.0	86.0					6																	41036673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"""terminal ADP-ribose protein glycohydrolase 1"""	614393	"""chromosome 6 open reading frame 130"""	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.263C>T	6.37:g.41036673G>A	ENSP00000420484:p.Ser88Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK4|A8K4H4|Q96F23	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.S88L	ENST00000479950.1	37	c.263	CCDS34445.1	6	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655501	0.29425	.	.	ENSG00000124596	ENST00000479950;ENST00000463088;ENST00000424266;ENST00000468811;ENST00000486443;ENST00000488238	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	6.08	6.08	0.98989	Appr-1-p processing (2);	0.315884	0.34986	N	0.003524	T	0.26048	0.0635	L	0.57536	1.79	0.80722	D	1	P	0.41546	0.754	B	0.37989	0.262	T	0.07195	-1.0785	10	0.11182	T	0.66	-17.8447	17.8194	0.88645	0.0:0.0:1.0:0.0	.	88	Q9Y530	CF130_HUMAN	L	88;88;88;88;49;88	ENSP00000420484:S88L;ENSP00000420193:S88L;ENSP00000416829:S88L;ENSP00000420601:S88L;ENSP00000419175:S49L;ENSP00000420414:S88L	ENSP00000416829:S88L	S	-	2	0	C6orf130	41144651	0.998000	0.40836	0.994000	0.49952	0.996000	0.88848	2.902000	0.48703	2.894000	0.99253	0.655000	0.94253	TCG	C6orf130	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000124596		0.413	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf130	HGNC	protein_coding	OTTHUMT00000040494.2	259	0.00	0	G	NM_145063		41036673	41036673	-1	no_errors	ENST00000424266	ensembl	human	known	69_37n	missense	248	15.59	46	SNP	0.974	A
OARD1	221443	genome.wustl.edu	37	6	41039395	41039395	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:41039395G>T	ENST00000479950.1	-	0	292				NFYA_ENST00000353205.5_5'Flank|OARD1_ENST00000471367.1_De_novo_Start_OutOfFrame|OARD1_ENST00000464633.1_De_novo_Start_OutOfFrame|OARD1_ENST00000486443.1_Intron|OARD1_ENST00000373154.2_De_novo_Start_OutOfFrame|OARD1_ENST00000482515.1_De_novo_Start_OutOfFrame|OARD1_ENST00000244558.9_De_novo_Start_OutOfFrame|NFYA_ENST00000341376.6_5'Flank|OARD1_ENST00000424266.2_De_novo_Start_OutOfFrame|OARD1_ENST00000463088.1_De_novo_Start_OutOfFrame|OARD1_ENST00000480585.1_De_novo_Start_OutOfFrame|OARD1_ENST00000468811.1_De_novo_Start_OutOfFrame|OARD1_ENST00000469104.1_De_novo_Start_OutOfFrame|OARD1_ENST00000467234.1_5'UTR			Q9Y530	OARD1_HUMAN	O-acyl-ADP-ribose deacylase 1						purine nucleoside metabolic process (GO:0042278)		deacetylase activity (GO:0019213)|purine nucleoside binding (GO:0001883)										GCTATTTCCAGAATTTAAGTG	0.388																																						dbGAP											0													117.0	109.0	112.0					6																	41039395		2203	4300	6503	-	-	-			0			AJ420538	CCDS34445.1	6p21.1	2013-03-14	2012-11-06	2012-11-06	ENSG00000124596	ENSG00000124596			21257	protein-coding gene	gene with protein product	"""terminal ADP-ribose protein glycohydrolase 1"""	614393	"""chromosome 6 open reading frame 130"""	C6orf130		21849506	Standard	NM_145063		Approved	MGC19570, dJ34B21.3, TARG1	uc003opm.3	Q9Y530	OTTHUMG00000014667	ENST00000479950.1:c.-22C>A	6.37:g.41039395G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK4|A8K4H4|Q96F23	RNA	SNP	-	NULL	ENST00000479950.1	37	NULL	CCDS34445.1	6																																																																																			C6orf130	-	-	ENSG00000124596		0.388	OARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf130	HGNC	protein_coding	OTTHUMT00000040494.2	106	0.00	0	G	NM_145063		41039395	41039395	-1	no_errors	ENST00000467234	ensembl	human	known	69_37n	rna	70	19.54	17	SNP	0.777	T
C6orf163	206412	genome.wustl.edu	37	6	88074950	88074950	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:88074950G>T	ENST00000388923.4	+	5	1077	c.826G>T	c.(826-828)Gat>Tat	p.D276Y	C6orf163_ENST00000608326.1_Missense_Mutation_p.D146Y|RP1-102H19.8_ENST00000448282.2_Intron|C6orf163_ENST00000608891.1_3'UTR	NM_001010868.2	NP_001010868.2	Q5TEZ5	CF163_HUMAN	chromosome 6 open reading frame 163	276										central_nervous_system(1)|kidney(1)	2						AAATTGGAAAGATTTCCTAGA	0.408																																						dbGAP											0													83.0	80.0	81.0					6																	88074950		692	1591	2283	-	-	-	SO:0001583	missense	0			AK092941	CCDS55042.1	6q15	2012-02-07			ENSG00000203872	ENSG00000203872			21403	protein-coding gene	gene with protein product							Standard	NM_001010868		Approved		uc021zcl.1	Q5TEZ5	OTTHUMG00000015169	ENST00000388923.4:c.826G>T	6.37:g.88074950G>T	ENSP00000373575:p.Asp276Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D276Y	ENST00000388923.4	37	c.826	CCDS55042.1	6	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597028	0.66332	.	.	ENSG00000203872	ENST00000388923;ENST00000369574	.	.	.	6.17	5.31	0.75309	.	0.072856	0.64402	D	0.000020	T	0.64864	0.2637	M	0.69823	2.125	0.39751	D	0.971894	.	.	.	.	.	.	T	0.71062	-0.4701	7	0.66056	D	0.02	-19.3221	12.6623	0.56822	0.0766:0.0:0.9234:0.0	.	.	.	.	Y	276;150	.	ENSP00000358587:D150Y	D	+	1	0	C6orf163	88131669	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.818000	0.55678	1.627000	0.50400	0.655000	0.94253	GAT	C6orf163	-	NULL	ENSG00000203872		0.408	C6orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf163	HGNC	protein_coding	OTTHUMT00000041436.2	157	0.00	0	G	NM_001010868		88074950	88074950	+1	no_errors	ENST00000388923	ensembl	human	known	69_37n	missense	125	29.38	52	SNP	1.000	T
TBC1D32	221322	genome.wustl.edu	37	6	121482199	121482199	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:121482199G>A	ENST00000398212.2	-	23	2623	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	TBC1D32_ENST00000275159.6_Silent_p.D899D|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	858					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CAATTATAAAGTCCCTGAAAA	0.333																																						dbGAP											0													78.0	71.0	73.0					6																	121482199		1810	4071	5881	-	-	-	SO:0001819	synonymous_variant	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2574C>T	6.37:g.121482199G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	superfamily_Rab-GTPase-TBC_dom	p.D899	ENST00000398212.2	37	c.2697	CCDS43501.1	6																																																																																			C6orf170	-	NULL	ENSG00000146350		0.333	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C6orf170	HGNC	protein_coding	OTTHUMT00000380937.2	216	0.00	0	G	NM_152730		121482199	121482199	-1	no_errors	ENST00000275159	ensembl	human	putative	69_37n	silent	159	13.98	26	SNP	0.011	A
C6orf58	352999	genome.wustl.edu	37	6	127898483	127898483	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:127898483T>G	ENST00000329722.7	+	1	165	c.153T>G	c.(151-153)atT>atG	p.I51M	C6orf58_ENST00000498112.1_Intron	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	51						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GCATGTACATTATTAATCCCT	0.448																																						dbGAP											0													113.0	119.0	117.0					6																	127898483		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.153T>G	6.37:g.127898483T>G	ENSP00000328069:p.Ile51Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.I51M	ENST00000329722.7	37	c.153	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525134	0.44969	.	.	ENSG00000184530	ENST00000329722	T	0.45668	0.89	5.24	1.42	0.22433	.	0.608992	0.17279	N	0.180065	T	0.41696	0.1170	M	0.78637	2.42	0.09310	N	1	D	0.67145	0.996	D	0.70016	0.967	T	0.19712	-1.0297	10	0.59425	D	0.04	-19.9597	3.233	0.06755	0.1785:0.3109:0.0:0.5106	.	51	Q6P5S2	CF058_HUMAN	M	51	ENSP00000328069:I51M	ENSP00000328069:I51M	I	+	3	3	C6orf58	127940176	0.084000	0.21492	0.043000	0.18650	0.006000	0.05464	-0.201000	0.09464	0.292000	0.22492	0.533000	0.62120	ATT	C6orf58	-	pfam_DUF781	ENSG00000184530		0.448	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	173	0.00	0	T	NM_001010905		127898483	127898483	+1	no_errors	ENST00000329722	ensembl	human	known	69_37n	missense	126	28.41	50	SNP	0.064	G
C6orf58	352999	genome.wustl.edu	37	6	127911368	127911368	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:127911368C>A	ENST00000329722.7	+	5	823	c.811C>A	c.(811-813)Ctt>Att	p.L271I		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	271						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		ACCACGAATTCTTCTTAATAC	0.403																																						dbGAP											0													174.0	172.0	172.0					6																	127911368		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.811C>A	6.37:g.127911368C>A	ENSP00000328069:p.Leu271Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.L271I	ENST00000329722.7	37	c.811	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329898	0.60743	.	.	ENSG00000184530	ENST00000329722	T	0.64085	-0.08	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.80982	2.52	0.21064	N	0.999799	D	0.89917	1.0	D	0.91635	0.999	T	0.67440	-0.5670	10	0.87932	D	0	-47.3022	13.6804	0.62481	0.0:1.0:0.0:0.0	.	271	Q6P5S2	CF058_HUMAN	I	271	ENSP00000328069:L271I	ENSP00000328069:L271I	L	+	1	0	C6orf58	127953061	0.818000	0.29161	0.073000	0.20177	0.008000	0.06430	3.485000	0.53208	2.612000	0.88384	0.655000	0.94253	CTT	C6orf58	-	pfam_DUF781	ENSG00000184530		0.403	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	248	0.00	0	C	NM_001010905		127911368	127911368	+1	no_errors	ENST00000329722	ensembl	human	known	69_37n	missense	151	12.72	22	SNP	0.171	A
C6orf118	168090	genome.wustl.edu	37	6	165706897	165706897	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:165706897C>A	ENST00000230301.8	-	6	1141				C6orf118_ENST00000494696.2_5'Flank|C6orf118_ENST00000543069.1_Missense_Mutation_p.R271S	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118											breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACACAGACACCTGCCTGATC	0.463																																						dbGAP											0													296.0	243.0	261.0					6																	165706897		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1120+4G>T	6.37:g.165706897C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.R271S	ENST00000230301.8	37	c.813	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	6.178	0.401092	0.11696	.	.	ENSG00000112539	ENST00000543069	T	0.15718	2.4	3.72	3.72	0.42706	.	.	.	.	.	T	0.05227	0.0139	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.34329	-0.9833	6	0.16896	T	0.51	.	11.3002	0.49300	0.0:1.0:0.0:0.0	.	.	.	.	S	271	ENSP00000439288:R271S	ENSP00000439288:R271S	R	-	3	2	C6orf118	165626887	0.994000	0.37717	0.408000	0.26446	0.001000	0.01503	2.937000	0.48979	2.364000	0.80123	0.563000	0.77884	AGG	C6orf118	-	NULL	ENSG00000112539		0.463	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	471	0.00	0	C	NM_144980		165706897	165706897	-1	no_errors	ENST00000543069	ensembl	human	known	69_37n	missense	330	15.56	61	SNP	0.496	A
C7orf31	136895	genome.wustl.edu	37	7	25191291	25191291	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:25191291C>A	ENST00000409280.1	-	7	916	c.608G>T	c.(607-609)aGa>aTa	p.R203I	C7orf31_ENST00000283905.3_Missense_Mutation_p.R203I			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	203										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CAGTTCATATCTATAAGGATT	0.308																																						dbGAP											0													66.0	67.0	67.0					7																	25191291		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.608G>T	7.37:g.25191291C>A	ENSP00000386604:p.Arg203Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	NULL	p.R203I	ENST00000409280.1	37	c.608	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	c	21.4	4.138282	0.77775	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.20463	2.07;2.07	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	M	0.74258	2.255	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.50457	-0.8826	10	0.87932	D	0	-15.5129	15.7789	0.78243	0.0:1.0:0.0:0.0	.	203	Q8N865	CG031_HUMAN	I	203	ENSP00000386604:R203I;ENSP00000283905:R203I	ENSP00000283905:R203I	R	-	2	0	C7orf31	25157816	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.851000	0.62896	2.515000	0.84797	0.563000	0.77884	AGA	C7orf31	-	NULL	ENSG00000153790		0.308	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	237	0.00	0	C	NM_138811		25191291	25191291	-1	no_errors	ENST00000283905	ensembl	human	known	69_37n	missense	194	16.02	37	SNP	1.000	A
SUGCT	79783	genome.wustl.edu	37	7	40277282	40277282	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:40277282T>C	ENST00000335693.4	+	7	577	c.554T>C	c.(553-555)gTt>gCt	p.V185A	C7orf10_ENST00000309930.5_Missense_Mutation_p.V185A|C7orf10_ENST00000401647.2_Missense_Mutation_p.V185A	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		185					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TATGATGCTGTTGCCTCGGCT	0.428																																						dbGAP											0													184.0	173.0	177.0					7																	40277282		1972	4160	6132	-	-	-	SO:0001583	missense	0																														ENST00000335693.4:c.554T>C	7.37:g.40277282T>C	ENSP00000338475:p.Val185Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.V185A	ENST00000335693.4	37	c.554	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	T	18.51	3.638673	0.67130	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	T;T;T	0.57436	0.4;0.4;0.4	5.35	5.35	0.76521	CoA-transferase family III domain (2);	0.370916	0.30723	N	0.009006	T	0.57095	0.2030	L	0.52126	1.63	0.80722	D	1	P;P;P	0.45768	0.866;0.776;0.837	B;P;P	0.48921	0.411;0.595;0.476	T	0.59936	-0.7360	10	0.54805	T	0.06	-8.3005	15.2893	0.73854	0.0:0.0:0.0:1.0	.	185;185;148	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	A	185	ENSP00000312054:V185A;ENSP00000385222:V185A;ENSP00000338475:V185A	ENSP00000312054:V185A	V	+	2	0	C7orf10	40243807	0.999000	0.42202	0.996000	0.52242	0.987000	0.75469	5.113000	0.64640	2.159000	0.67721	0.533000	0.62120	GTT	C7orf10	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	ENSG00000175600		0.428	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	518	0.00	0	T			40277282	40277282	+1	no_errors	ENST00000309930	ensembl	human	known	69_37n	missense	317	22.49	92	SNP	1.000	C
C7orf57	136288	genome.wustl.edu	37	7	48086097	48086097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:48086097G>T	ENST00000348904.3	+	5	603	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	C7orf57_ENST00000435376.1_Nonsense_Mutation_p.E9*|C7orf57_ENST00000420324.1_Nonsense_Mutation_p.E176*|C7orf57_ENST00000430738.1_Nonsense_Mutation_p.E176*|C7orf57_ENST00000539619.1_Nonsense_Mutation_p.E131*	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	131										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GGTTCATGAAGAATTTAACCC	0.512																																						dbGAP											0													63.0	61.0	62.0					7																	48086097		2032	4174	6206	-	-	-	SO:0001587	stop_gained	0			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.391G>T	7.37:g.48086097G>T	ENSP00000335500:p.Glu131*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JBJ8	Nonsense_Mutation	SNP	NULL	p.E131*	ENST00000348904.3	37	c.391	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.343696	0.98769	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.6543	16.8864	0.86077	0.0:0.0:1.0:0.0	.	.	.	.	X	176;9;176;131;131	.	ENSP00000335500:E131X	E	+	1	0	C7orf57	48052622	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	6.067000	0.71193	2.643000	0.89663	0.655000	0.94253	GAA	C7orf57	-	NULL	ENSG00000164746		0.512	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	300	0.66	2	G	NM_001100159		48086097	48086097	+1	no_errors	ENST00000348904	ensembl	human	known	69_37n	nonsense	218	12.75	32	SNP	1.000	T
C7orf71	285941	genome.wustl.edu	37	7	26678910	26678910	+	Silent	SNP	C	C	T	rs111516571	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:26678910C>T	ENST00000409974.3	+	2	863	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_001145531.1	NP_001139003.1	A4D174	CG071_HUMAN	chromosome 7 open reading frame 71	49																	agaggggcctcggggaagcca	0.527													C|||	474	0.0946486	0.3381	0.0288	5008	,	,		17598	0.004		0.003	False		,,,				2504	0.0					dbGAP											0													48.0	63.0	59.0					7																	26678910		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47565.1	7p15.2	2009-09-11			ENSG00000222004	ENSG00000222004			22364	protein-coding gene	gene with protein product							Standard	NM_001145531		Approved		uc003syb.3	A4D174	OTTHUMG00000152860	ENST00000409974.3:c.147C>T	7.37:g.26678910C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L49	ENST00000409974.3	37	c.147	CCDS47565.1	7																																																																																			C7orf71	-	NULL	ENSG00000222004		0.527	C7orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf71	HGNC	protein_coding	OTTHUMT00000328272.1	351	0.00	0	C	NM_001145531		26678910	26678910	+1	no_errors	ENST00000409974	ensembl	human	known	69_37n	silent	255	27.61	98	SNP	0.036	T
C7orf43	55262	genome.wustl.edu	37	7	99753199	99753199	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99753199C>A	ENST00000316937.3	-	9	1581				MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000457641.1_Intron|C7orf43_ENST00000419841.1_Intron|C7orf43_ENST00000394035.2_Intron	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43											breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTGCCCAGCTTTTTATTTC	0.557																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1395+94G>T	7.37:g.99753199C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	RNA	SNP	-	NULL	ENST00000316937.3	37	NULL	CCDS5687.1	7																																																																																			C7orf59	-	-	ENSG00000188186		0.557	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf59	HGNC	protein_coding	OTTHUMT00000337395.2	85	0.00	0	C	NM_018275		99753199	99753199	+1	no_errors	ENST00000490633	ensembl	human	known	69_37n	rna	57	13.64	9	SNP	0.236	A
C8A	731	genome.wustl.edu	37	1	57340731	57340731	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:57340731C>T	ENST00000361249.3	+	3	377	c.281C>T	c.(280-282)gCa>gTa	p.A94V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	94	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GTAAGGCAAGCACAGTGTGGA	0.498																																						dbGAP											0													93.0	83.0	86.0					1																	57340731		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.281C>T	1.37:g.57340731C>T	ENSP00000354458:p.Ala94Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.A94V	ENST00000361249.3	37	c.281	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	C	4.751	0.139680	0.09083	.	.	ENSG00000157131	ENST00000361249	D	0.87029	-2.2	5.42	3.42	0.39159	.	0.457725	0.25610	N	0.029500	T	0.67627	0.2913	N	0.01874	-0.695	0.09310	N	1	B	0.26445	0.149	B	0.30716	0.119	T	0.59429	-0.7456	10	0.29301	T	0.29	-8.9878	7.7486	0.28883	0.2901:0.6282:0.0:0.0817	.	94	P07357	CO8A_HUMAN	V	94	ENSP00000354458:A94V	ENSP00000354458:A94V	A	+	2	0	C8A	57113319	0.000000	0.05858	0.893000	0.35052	0.024000	0.10985	0.219000	0.17641	1.519000	0.48950	-0.158000	0.13435	GCA	C8A	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000157131		0.498	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	268	0.00	0	C	NM_000562		57340731	57340731	+1	no_errors	ENST00000361249	ensembl	human	known	69_37n	missense	108	12.80	16	SNP	0.000	T
C8A	731	genome.wustl.edu	37	1	57351723	57351723	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:57351723T>C	ENST00000361249.3	+	7	1075	c.979T>C	c.(979-981)Tat>Cat	p.Y327H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	327	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TCAGTACAATTATGGCATGTA	0.418																																						dbGAP											0													122.0	100.0	108.0					1																	57351723		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.979T>C	1.37:g.57351723T>C	ENSP00000354458:p.Tyr327His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.Y327H	ENST00000361249.3	37	c.979	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620831	0.87460	.	.	ENSG00000157131	ENST00000361249	D	0.85088	-1.94	6.04	6.04	0.98038	Membrane attack complex component/perforin (MACPF) domain (3);	0.101085	0.64402	D	0.000001	D	0.92825	0.7718	M	0.83692	2.655	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	D	0.93475	0.6822	10	0.66056	D	0.02	-25.7901	16.5885	0.84745	0.0:0.0:0.0:1.0	.	327	P07357	CO8A_HUMAN	H	327	ENSP00000354458:Y327H	ENSP00000354458:Y327H	Y	+	1	0	C8A	57124311	1.000000	0.71417	0.890000	0.34922	0.921000	0.55340	4.626000	0.61269	2.317000	0.78254	0.460000	0.39030	TAT	C8A	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin	ENSG00000157131		0.418	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	287	0.00	0	T	NM_000562		57351723	57351723	+1	no_errors	ENST00000361249	ensembl	human	known	69_37n	missense	119	36.51	69	SNP	1.000	C
C8A	731	genome.wustl.edu	37	1	57378102	57378102	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:57378102G>A	ENST00000361249.3	+	10	1503	c.1407G>A	c.(1405-1407)cgG>cgA	p.R469R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	469	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGGTGCTGCGGCACACAAGCC	0.622																																						dbGAP											0													45.0	47.0	46.0					1																	57378102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1407G>A	1.37:g.57378102G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R469	ENST00000361249.3	37	c.1407	CCDS606.1	1																																																																																			C8A	-	pfam_MACPF,smart_MACPF	ENSG00000157131		0.622	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	58	0.00	0	G	NM_000562		57378102	57378102	+1	no_errors	ENST00000361249	ensembl	human	known	69_37n	silent	19	42.42	14	SNP	0.000	A
C8orf48	157773	genome.wustl.edu	37	8	13425024	13425024	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:13425024G>T	ENST00000297324.4	+	1	673	c.524G>T	c.(523-525)aGa>aTa	p.R175I	RP11-145O15.3_ENST00000529018.1_RNA	NM_001007090.2	NP_001007091	Q96LL4	CH048_HUMAN	chromosome 8 open reading frame 48	175										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						CTTTTGAACAGAATCTACTTT	0.428																																						dbGAP											0													159.0	143.0	148.0					8																	13425024		692	1591	2283	-	-	-	SO:0001583	missense	0			AK058131	CCDS47809.1	8p22	2012-04-13			ENSG00000164743	ENSG00000164743			26345	protein-coding gene	gene with protein product						12477932	Standard	NM_001007090		Approved	FLJ25402	uc003wwp.3	Q96LL4	OTTHUMG00000165482	ENST00000297324.4:c.524G>T	8.37:g.13425024G>T	ENSP00000297324:p.Arg175Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LJ9	Missense_Mutation	SNP	NULL	p.R175I	ENST00000297324.4	37	c.524	CCDS47809.1	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070908	0.76301	.	.	ENSG00000164743	ENST00000297324	T	0.55413	0.52	5.22	5.22	0.72569	.	0.000000	0.43747	D	0.000533	T	0.69314	0.3097	L	0.61218	1.895	0.52501	D	0.99995	D	0.89917	1.0	D	0.91635	0.999	T	0.70737	-0.4790	10	0.87932	D	0	-13.264	14.5001	0.67716	0.0:0.0:1.0:0.0	.	175	Q96LL4	CH048_HUMAN	I	175	ENSP00000297324:R175I	ENSP00000297324:R175I	R	+	2	0	C8orf48	13469395	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	3.456000	0.53000	2.894000	0.99253	0.655000	0.94253	AGA	C8orf48	-	NULL	ENSG00000164743		0.428	C8orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf48	HGNC	protein_coding	OTTHUMT00000384400.1	318	0.00	0	G	NM_001007090		13425024	13425024	+1	no_errors	ENST00000297324	ensembl	human	known	69_37n	missense	196	16.95	40	SNP	1.000	T
C9	735	genome.wustl.edu	37	5	39308422	39308422	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:39308422G>T	ENST00000263408.4	-	8	1245	c.1150C>A	c.(1150-1152)Cat>Aat	p.H384N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	384	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACATCCAGATGATACCCAAGG	0.353																																						dbGAP											0													125.0	122.0	123.0					5																	39308422		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1150C>A	5.37:g.39308422G>T	ENSP00000263408:p.His384Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.H384N	ENST00000263408.4	37	c.1150	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.413510	0.00191	.	.	ENSG00000113600	ENST00000263408	D	0.83755	-1.76	5.46	-4.65	0.03339	Membrane attack complex component/perforin (MACPF) domain (3);	0.864270	0.10575	N	0.658671	T	0.47303	0.1438	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52313	-0.8592	10	0.02654	T	1	-7.7738	7.1933	0.25839	0.0:0.2702:0.3339:0.3959	.	384	P02748	CO9_HUMAN	N	384	ENSP00000263408:H384N	ENSP00000263408:H384N	H	-	1	0	C9	39344179	0.012000	0.17670	0.003000	0.11579	0.059000	0.15707	-1.014000	0.03641	-1.086000	0.03084	0.591000	0.81541	CAT	C9	-	pfam_MACPF,smart_MACPF	ENSG00000113600		0.353	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	1063	0.19	2	G			39308422	39308422	-1	no_errors	ENST00000263408	ensembl	human	known	69_37n	missense	549	10.44	64	SNP	0.001	T
EQTN	54586	genome.wustl.edu	37	9	27294414	27294414	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:27294414C>T	ENST00000380032.3	-	3	286				EQTN_ENST00000537675.1_Intron|EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000380031.1_Intron	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated						acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)											AAAACAAAAGCGAAAGTCTTC	0.323																																						dbGAP											0													82.0	72.0	75.0					9																	27294414		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.203-14G>A	9.37:g.27294414C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	RNA	SNP	-	NULL	ENST00000380032.3	37	NULL	CCDS35001.1	9																																																																																			C9orf11	-	-	ENSG00000120160		0.323	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf11	HGNC	protein_coding	OTTHUMT00000055499.1	238	0.00	0	C	NM_020641		27294414	27294414	-1	no_errors	ENST00000484994	ensembl	human	known	69_37n	rna	187	12.62	27	SNP	0.000	T
CCDC180	100499483	genome.wustl.edu	37	9	100105799	100105799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:100105799G>T	ENST00000357054.1	+	33	3936	c.3001G>T	c.(3001-3003)Gaa>Taa	p.E1001*	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.E859*|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.E862*|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.E862*			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1001						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAAGTTCATAGAACAAGTGAC	0.368																																						dbGAP											0													85.0	81.0	82.0					9																	100105799		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3001G>T	9.37:g.100105799G>T	ENSP00000349562:p.Glu1001*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	NULL	p.E862*	ENST00000357054.1	37	c.2584		9	.	.	.	.	.	.	.	.	.	.	G	47	13.196941	0.99726	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.39	3.49	0.39957	.	0.202267	0.40908	N	0.001000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-9.129	7.1721	0.25724	0.0933:0.1918:0.715:0.0	.	.	.	.	X	1001;862;859;885;862	.	ENSP00000349562:E1001X	E	+	1	0	C9orf174	99145620	0.962000	0.33011	0.455000	0.27031	0.254000	0.26022	0.852000	0.27764	1.356000	0.45884	0.655000	0.94253	GAA	C9orf174	-	NULL	ENSG00000197816		0.368	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		124	0.00	0	G	NM_020893		100105799	100105799	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	nonsense	62	27.91	24	SNP	0.646	T
C9orf24	84688	genome.wustl.edu	37	9	34381418	34381418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:34381418G>A	ENST00000297623.2	-	4	619	c.421C>T	c.(421-423)Cga>Tga	p.R141*	C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379133.3_Nonsense_Mutation_p.R6*|C9orf24_ENST00000379124.1_Nonsense_Mutation_p.R6*|C9orf24_ENST00000379127.1_Nonsense_Mutation_p.R6*|C9orf24_ENST00000379126.3_Nonsense_Mutation_p.R6*	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	141					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GGCATTCCTCGAACTGCTGTC	0.597																																						dbGAP											0													146.0	117.0	126.0					9																	34381418		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.421C>T	9.37:g.34381418G>A	ENSP00000297623:p.Arg141*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Nonsense_Mutation	SNP	NULL	p.R141*	ENST00000297623.2	37	c.421	CCDS6554.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.634836	0.96682	.	.	ENSG00000164972	ENST00000297623;ENST00000379126;ENST00000379133;ENST00000379127;ENST00000379124	.	.	.	4.92	4.0	0.46444	.	0.248211	0.28971	N	0.013544	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8537	12.4121	0.55473	0.0:0.1696:0.8304:0.0	.	.	.	.	X	141;6;6;6;6	.	ENSP00000297623:R141X	R	-	1	2	C9orf24	34371418	0.818000	0.29161	0.991000	0.47740	0.847000	0.48162	2.754000	0.47532	1.165000	0.42670	0.462000	0.41574	CGA	C9orf24	-	NULL	ENSG00000164972		0.597	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf24	HGNC	protein_coding	OTTHUMT00000001098.3	98	0.00	0	G	NM_147169		34381418	34381418	-1	no_errors	ENST00000297623	ensembl	human	known	69_37n	nonsense	42	17.65	9	SNP	0.981	A
C9orf3	84909	genome.wustl.edu	37	9	97844999	97844999	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:97844999G>A	ENST00000375315.2	+	0	2462				MIR27B_ENST00000385129.1_RNA|C9orf3_ENST00000433691.2_3'UTR|C9orf3_ENST00000425634.2_3'UTR|C9orf3_ENST00000297979.5_3'UTR|MIR23B_ENST00000384832.1_RNA	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3						leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TTATTTTAACGAGGTGATTCT	0.498																																						dbGAP											0													131.0	107.0	115.0					9																	97844999		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.*2G>A	9.37:g.97844999G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	RNA	SNP	-	NULL	ENST00000375315.2	37	NULL	CCDS55328.1	9																																																																																			C9orf3	-	-	ENSG00000148120		0.498	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		207	0.00	0	G	NM_032823		97844999	97844999	+1	no_errors	ENST00000463372	ensembl	human	known	69_37n	rna	215	18.18	48	SNP	0.430	A
CCDC180	100499483	genome.wustl.edu	37	9	100105819	100105819	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:100105819G>A	ENST00000357054.1	+	33	3956	c.3021G>A	c.(3019-3021)tcG>tcA	p.S1007S	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Silent_p.S865S|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.S868S|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Silent_p.S868S			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1007						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAATTCCATCGAGACTAATTT	0.343																																						dbGAP											0													61.0	59.0	59.0					9																	100105819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3021G>A	9.37:g.100105819G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.S868	ENST00000357054.1	37	c.2604		9																																																																																			C9orf174	-	NULL	ENSG00000197816		0.343	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		106	0.00	0	G	NM_020893		100105819	100105819	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	silent	51	26.09	18	SNP	0.000	A
C9orf43	257169	genome.wustl.edu	37	9	116184853	116184853	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:116184853G>T	ENST00000288462.4	+	6	917	c.471G>T	c.(469-471)aaG>aaT	p.K157N	C9orf43_ENST00000374165.1_Missense_Mutation_p.K157N	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	157										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGAAAAGAAAGAACTCGGCAG	0.373																																						dbGAP											0													164.0	161.0	162.0					9																	116184853		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.471G>T	9.37:g.116184853G>T	ENSP00000288462:p.Lys157Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.K157N	ENST00000288462.4	37	c.471	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971826	0.34754	.	.	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.52526	0.66;0.66	4.24	0.0476	0.14281	.	1.101640	0.06937	N	0.812088	T	0.26955	0.0660	N	0.17082	0.46	0.09310	N	1	B	0.30851	0.297	B	0.30179	0.112	T	0.19943	-1.0290	10	0.27082	T	0.32	-1.443	3.0944	0.06304	0.0967:0.3321:0.4007:0.1706	.	157	Q8TAL5	CI043_HUMAN	N	157	ENSP00000363280:K157N;ENSP00000288462:K157N	ENSP00000288462:K157N	K	+	3	2	C9orf43	115224674	0.125000	0.22332	0.000000	0.03702	0.120000	0.20174	0.507000	0.22675	0.012000	0.14892	0.655000	0.94253	AAG	C9orf43	-	NULL	ENSG00000157653		0.373	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	608	0.00	0	G	NM_152786		116184853	116184853	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	missense	457	11.43	59	SNP	0.001	T
C9orf84	158401	genome.wustl.edu	37	9	114520456	114520456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114520456C>A	ENST00000318737.4	-	5	552	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	C9orf84_ENST00000394777.4_Nonsense_Mutation_p.E103*|C9orf84_ENST00000394779.3_Nonsense_Mutation_p.E103*|C9orf84_ENST00000374283.5_Nonsense_Mutation_p.E206*|C9orf84_ENST00000374287.3_Nonsense_Mutation_p.E142*	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	142										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCAAAGTTTCTTGAAGAGAG	0.274																																						dbGAP											0													29.0	30.0	30.0					9																	114520456		2188	4270	6458	-	-	-	SO:0001587	stop_gained	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.424G>T	9.37:g.114520456C>A	ENSP00000322108:p.Glu142*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Nonsense_Mutation	SNP	superfamily_RuvA_2-like	p.E142*	ENST00000318737.4	37	c.424	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024757	0.75390	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	.	.	.	5.1	1.74	0.24563	.	1.233450	0.05736	N	0.600552	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.9086	5.5527	0.17099	0.0:0.6114:0.0:0.3886	.	.	.	.	X	103;103;142;142;206	.	ENSP00000322108:E142X	E	-	1	0	C9orf84	113560277	0.718000	0.27976	0.751000	0.31187	0.183000	0.23260	0.918000	0.28678	0.661000	0.30985	0.591000	0.81541	GAA	C9orf84	-	NULL	ENSG00000165181		0.274	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	86	0.00	0	C	NM_173521		114520456	114520456	-1	no_errors	ENST00000318737	ensembl	human	known	69_37n	nonsense	65	14.47	11	SNP	0.585	A
C9orf78	51759	genome.wustl.edu	37	9	132590455	132590455	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:132590455C>A	ENST00000372447.3	-	9	908	c.855G>T	c.(853-855)atG>atT	p.M285I	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	285						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				ACCGCCTATTCATTTTCTTGA	0.493																																						dbGAP											0													225.0	197.0	206.0					9																	132590455		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.855G>T	9.37:g.132590455C>A	ENSP00000361524:p.Met285Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	pfam_Hep_59	p.M285I	ENST00000372447.3	37	c.855	CCDS6931.1	9	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293887	0.40594	.	.	ENSG00000136819	ENST00000372447	T	0.43294	0.95	5.56	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.57536	1.79	0.80722	D	1	P	0.48230	0.907	B	0.44224	0.444	T	0.25606	-1.0127	10	0.22706	T	0.39	.	13.4718	0.61285	0.0:0.9252:0.0:0.0748	.	285	Q9NZ63	CI078_HUMAN	I	285	ENSP00000361524:M285I	ENSP00000361524:M285I	M	-	3	0	C9orf78	131630276	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	7.207000	0.77899	1.372000	0.46190	-0.136000	0.14681	ATG	C9orf78	-	NULL	ENSG00000136819		0.493	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1	129	0.00	0	C	NM_016520		132590455	132590455	-1	no_errors	ENST00000372447	ensembl	human	known	69_37n	missense	118	16.31	23	SNP	1.000	A
CABLES1	91768	genome.wustl.edu	37	18	20774417	20774417	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:20774417G>A	ENST00000256925.7	+	3	923	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.R43Q|CABLES1_ENST00000400473.2_5'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	308	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCAGATGTCGAACTCTCTCA	0.423																																						dbGAP											0													83.0	76.0	78.0					18																	20774417		1900	4127	6027	-	-	-	SO:0001583	missense	0			BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.923G>A	18.37:g.20774417G>A	ENSP00000256925:p.Arg308Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.R308Q	ENST00000256925.7	37	c.923	CCDS42417.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.659420	0.96734	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.55588	0.51;0.69	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.99;0.992	T	0.68603	-0.5365	10	0.42905	T	0.14	-16.7712	19.9983	0.97395	0.0:0.0:1.0:0.0	.	43;308	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	Q	308;43	ENSP00000256925:R308Q;ENSP00000413851:R43Q	ENSP00000256925:R308Q	R	+	2	0	CABLES1	19028415	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.188000	0.94921	2.724000	0.93272	0.561000	0.74099	CGA	CABLES1	-	pirsf_Cdk5/c-Abl_linker_Cables	ENSG00000134508		0.423	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	HGNC	protein_coding	OTTHUMT00000445198.2	77	0.00	0	G	NM_138375		20774417	20774417	+1	no_errors	ENST00000256925	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	A
CABP5	56344	genome.wustl.edu	37	19	48543980	48543980	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:48543980G>A	ENST00000293255.2	-	3	250	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	40	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GGTCCTTATCGAACTCAAGAA	0.493																																						dbGAP											0													96.0	91.0	93.0					19																	48543980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.120C>T	19.37:g.48543980G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUY4	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F40	ENST00000293255.2	37	c.120	CCDS12709.1	19																																																																																			CABP5	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000105507		0.493	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP5	HGNC	protein_coding	OTTHUMT00000465212.1	186	0.00	0	G	NM_019855		48543980	48543980	-1	no_errors	ENST00000293255	ensembl	human	known	69_37n	silent	109	26.67	40	SNP	1.000	A
CACHD1	57685	genome.wustl.edu	37	1	65099910	65099910	+	Nonsense_Mutation	SNP	C	C	T	rs372000913		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:65099910C>T	ENST00000371073.2	+	7	973	c.973C>T	c.(973-975)Cga>Tga	p.R325*	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Nonsense_Mutation_p.R274*			Q5VU97	CAHD1_HUMAN	cache domain containing 1	325	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCAGCTGATTCGAAGTACAAA	0.418																																						dbGAP											0													92.0	76.0	82.0					1																	65099910		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.973C>T	1.37:g.65099910C>T	ENSP00000360113:p.Arg325*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.R325*	ENST00000371073.2	37	c.973		1	.	.	.	.	.	.	.	.	.	.	C	38	7.019956	0.98006	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	.	.	.	6.06	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8025	14.4071	0.67090	0.5072:0.4928:0.0:0.0	.	.	.	.	X	325;274	.	ENSP00000290039:R274X	R	+	1	2	CACHD1	64872498	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	2.057000	0.41365	0.835000	0.34877	0.655000	0.94253	CGA	CACHD1	-	pfscan_VWF_A	ENSG00000158966		0.418	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		138	0.00	0	C	NM_020925		65099910	65099910	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	nonsense	108	17.56	23	SNP	0.991	T
CACNA1B	774	genome.wustl.edu	37	9	140954105	140954105	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:140954105G>T	ENST00000371372.1	+	31	4729		c.e31-1		CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTTTCTCTAGAACTATTTCA	0.433																																						dbGAP											0													156.0	150.0	152.0					9																	140954105		1893	4121	6014	-	-	-	SO:0001630	splice_region_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4585-1G>T	9.37:g.140954105G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQK5	Splice_Site	SNP	-	e31-1	ENST00000371372.1	37	c.4588-1	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806526	0.90623	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8114	0.96547	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	140073926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.669000	0.98622	2.764000	0.94973	0.555000	0.69702	.	CACNA1B	-	-	ENSG00000148408		0.433	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	109	0.00	0	G	NM_000718	Intron	140954105	140954105	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	splice_site	71	29.70	30	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2595325	2595325	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:2595325C>T	ENST00000347598.4	+	6	813	c.813C>T	c.(811-813)atC>atT	p.I271I	CACNA1C_ENST00000399601.1_Silent_p.I271I|CACNA1C_ENST00000399617.1_Silent_p.I271I|CACNA1C_ENST00000399591.1_Silent_p.I271I|CACNA1C_ENST00000399634.1_Silent_p.I271I|CACNA1C_ENST00000399637.1_Silent_p.I271I|CACNA1C_ENST00000344100.3_Silent_p.I271I|CACNA1C_ENST00000399597.1_Silent_p.I271I|CACNA1C_ENST00000399595.1_Silent_p.I271I|CACNA1C_ENST00000399655.1_Silent_p.I271I|CACNA1C_ENST00000399644.1_Silent_p.I271I|CACNA1C_ENST00000399649.1_Silent_p.I271I|CACNA1C_ENST00000399621.1_Silent_p.I271I|CACNA1C_ENST00000406454.3_Silent_p.I271I|CACNA1C_ENST00000399603.1_Silent_p.I271I|CACNA1C_ENST00000335762.5_Silent_p.I271I|CACNA1C_ENST00000480911.1_Silent_p.I271I|CACNA1C_ENST00000399629.1_Silent_p.I271I|CACNA1C_ENST00000399638.1_Silent_p.I271I|CACNA1C_ENST00000402845.3_Silent_p.I271I|CACNA1C_ENST00000399606.1_Silent_p.I271I|CACNA1C_ENST00000399641.1_Silent_p.I271I|CACNA1C_ENST00000327702.7_Silent_p.I271I	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	271					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTGCACATCGCCCTGCTTG	0.562																																						dbGAP											0													110.0	112.0	111.0					12																	2595325		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.813C>T	12.37:g.2595325C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.I271	ENST00000347598.4	37	c.813	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	213	0.00	0	C	NM_000719		2595325	2595325	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	160	16.15	31	SNP	0.992	T
CACNA1C	775	genome.wustl.edu	37	12	2613689	2613689	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:2613689C>T	ENST00000399617.1	+	8	1201	c.1201C>T	c.(1201-1203)Ctc>Ttc	p.L401F	CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L401F|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L401F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L401F|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L401F|CACNA1C_ENST00000327702.7_Intron	NM_001167624.1	NP_001161096.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	401					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAATCTGGTTCTCGGTGTGTT	0.517																																						dbGAP											0													284.0	232.0	248.0					12																	2613689		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000399617.1:c.1201C>T	12.37:g.2613689C>T	ENSP00000382526:p.Leu401Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L401F	ENST00000399617.1	37	c.1201	CCDS53733.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936997	0.73557	.	.	ENSG00000151067	ENST00000399641;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000322367	D;D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16;-5.16	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.96547	3.84	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.997;1.0;0.998;0.999;0.994	D	0.98308	1.0522	10	0.87932	D	0	.	18.3616	0.90376	0.0:1.0:0.0:0.0	.	30;401;372;401;401;401	Q5V9X8;Q13936-23;Q13936-28;E9PDJ1;E9PDJ0;F5GY28	.;.;.;.;.;.	F	401;401;401;401;401;242	ENSP00000382549:L401F;ENSP00000382512:L401F;ENSP00000382542:L401F;ENSP00000382526:L401F;ENSP00000385896:L401F	ENSP00000323129:L242F	L	+	1	0	CACNA1C	2483950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.707000	0.61852	2.563000	0.86464	0.561000	0.74099	CTC	CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.517	CACNA1C-013	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317031.1	281	0.00	0	C	NM_000719		2613689	2613689	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	157	31.14	71	SNP	1.000	T
CACNA1D	776	genome.wustl.edu	37	3	53757499	53757499	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:53757499G>A	ENST00000350061.5	+	13	2216	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E589K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E569K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	569					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTCACCTGCGAGATGCTGGT	0.502																																						dbGAP											0													212.0	189.0	197.0					3																	53757499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1705G>A	3.37:g.53757499G>A	ENSP00000288133:p.Glu569Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.E589K	ENST00000350061.5	37	c.1765	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.837801	0.97009	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	H	0.99659	4.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.988;0.997;1.0;0.98	D	0.97332	0.9951	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	569;262;569;589	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	K	569;589;569;262	ENSP00000288133:E569K;ENSP00000288139:E589K;ENSP00000409174:E569K;ENSP00000418014:E262K	ENSP00000288139:E589K	E	+	1	0	CACNA1D	53732539	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GAG	CACNA1D	-	pfam_Ion_trans_dom	ENSG00000157388		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	259	0.00	0	G	NM_000720		53757499	53757499	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	243	13.21	37	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181725098	181725098	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:181725098C>T	ENST00000367573.2	+	29	3996	c.3996C>T	c.(3994-3996)aaC>aaT	p.N1332N	CACNA1E_ENST00000367570.1_Silent_p.N1332N|CACNA1E_ENST00000357570.5_Silent_p.N1283N|CACNA1E_ENST00000526775.1_Silent_p.N1313N|CACNA1E_ENST00000358338.5_Silent_p.N1264N|CACNA1E_ENST00000367567.4_Silent_p.N939N|CACNA1E_ENST00000360108.3_Silent_p.N1313N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1332					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTAGAGGCAACTATGTAGATC	0.478																																						dbGAP											0													78.0	78.0	78.0					1																	181725098		1914	4129	6043	-	-	-	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3996C>T	1.37:g.181725098C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.N1332	ENST00000367573.2	37	c.3996	CCDS55664.1	1																																																																																			CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	123	0.00	0	C	NM_000721		181725098	181725098	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	silent	106	32.05	50	SNP	1.000	T
CACNA1F	778	genome.wustl.edu	37	X	49077521	49077521	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:49077521C>T	ENST00000376265.2	-	18	2401	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Silent_p.K769K|CACNA1F_ENST00000376251.1_Silent_p.K715K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	780					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGGAGATCCTTCTCATTGC	0.517																																						dbGAP											0													220.0	139.0	166.0					X																	49077521		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2340G>A	X.37:g.49077521C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.K780	ENST00000376265.2	37	c.2340	CCDS35253.1	X																																																																																			CACNA1F	-	NULL	ENSG00000102001		0.517	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	465	0.00	0	C	NM_005183		49077521	49077521	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	silent	463	13.13	70	SNP	0.000	T
CACNA1G	8913	genome.wustl.edu	37	17	48683490	48683490	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:48683490G>T	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000416767.4_Nonsense_Mutation_p.E1510*|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514079.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCACGAAGAGATCAGCCC	0.617																																						dbGAP											0													41.0	48.0	45.0					17																	48683490		2201	4300	6501	-	-	-	SO:0001627	intron_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+106G>T	17.37:g.48683490G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,prints_VDCC_T_a1su	p.E1510*	ENST00000359106.5	37	c.4528	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	38	7.133441	0.98085	.	.	ENSG00000006283	ENST00000416767	.	.	.	2.89	1.87	0.25490	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0244	0.24932	0.0:0.0:0.7292:0.2708	.	.	.	.	X	1510	.	.	E	+	1	0	CACNA1G	46038489	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	0.205000	0.17356	0.736000	0.32559	0.655000	0.94253	GAG	CACNA1G	-	NULL	ENSG00000006283		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	77	0.00	0	G	NM_018896		48683490	48683490	+1	no_errors	ENST00000416767	ensembl	human	putative	69_37n	nonsense	29	14.71	5	SNP	0.002	T
CACNA1S	779	genome.wustl.edu	37	1	201012458	201012458	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:201012458T>C	ENST00000362061.3	-	40	5225	c.4999A>G	c.(4999-5001)Aat>Gat	p.N1667D	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.N1648D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1667					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGGCGACATTGGCGTTGGCA	0.547											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													254.0	213.0	227.0					1																	201012458		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4999A>G	1.37:g.201012458T>C	ENSP00000355192:p.Asn1667Asp	Somatic	2118	WXS	Illumina GAIIx	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.N1667D	ENST00000362061.3	37	c.4999	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	16.75	3.209121	0.58343	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96396	-4.0;-3.91	5.15	5.15	0.70609	.	7739.210000	0.00166	U	0.000016	D	0.95404	0.8508	L	0.58101	1.795	0.39677	D	0.970843	P	0.46395	0.877	B	0.38106	0.265	D	0.84661	0.0706	10	0.26408	T	0.33	.	14.6628	0.68885	0.0:0.0:0.0:1.0	.	1667	Q13698	CAC1S_HUMAN	D	1667;1648	ENSP00000355192:N1667D;ENSP00000356307:N1648D	ENSP00000355192:N1667D	N	-	1	0	CACNA1S	199279081	1.000000	0.71417	0.966000	0.40874	0.877000	0.50540	5.995000	0.70631	1.942000	0.56320	0.445000	0.29226	AAT	CACNA1S	-	NULL	ENSG00000081248		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	429	0.00	0	T	NM_000069		201012458	201012458	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	missense	262	10.24	30	SNP	0.996	C
CACNA2D1	781	genome.wustl.edu	37	7	81593599	81593599	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:81593599T>A	ENST00000356253.5	-	33	2942	c.2687A>T	c.(2686-2688)aAa>aTa	p.K896I	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K884I|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K96I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	896					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCATAAGATTTGTTAAAAGC	0.393																																						dbGAP											0													90.0	89.0	89.0					7																	81593599		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2687A>T	7.37:g.81593599T>A	ENSP00000348589:p.Lys896Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K896I	ENST00000356253.5	37	c.2687		7	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762787	0.49574	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.72051	-0.62;-0.62;-0.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	L	0.47716	1.5	0.49582	D	0.9998	P;B	0.46952	0.887;0.169	P;B	0.52217	0.693;0.082	T	0.72171	-0.4371	10	0.33940	T	0.23	-27.7096	15.8898	0.79286	0.0:0.0:0.0:1.0	.	96;884	B7Z658;P54289-2	.;.	I	884;903;896;96	ENSP00000349320:K884I;ENSP00000348589:K896I;ENSP00000443124:K96I	ENSP00000284088:K903I	K	-	2	0	CACNA2D1	81431535	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.415000	0.66411	2.212000	0.71576	0.528000	0.53228	AAA	CACNA2D1	-	NULL	ENSG00000153956		0.393	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		216	0.00	0	T			81593599	81593599	-1	no_errors	ENST00000356253	ensembl	human	known	69_37n	missense	167	12.95	25	SNP	1.000	A
CACNA2D1	781	genome.wustl.edu	37	7	81601162	81601162	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:81601162T>C	ENST00000356253.5	-	26	2363	c.2108A>G	c.(2107-2109)aAt>aGt	p.N703S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.N691S|CACNA2D1_ENST00000535308.1_5'Flank			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	703					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAAGACTCTATTAATCAAATC	0.274																																						dbGAP											0													72.0	75.0	74.0					7																	81601162		2202	4294	6496	-	-	-	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2108A>G	7.37:g.81601162T>C	ENSP00000348589:p.Asn703Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.N703S	ENST00000356253.5	37	c.2108		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.89|12.89	2.074639|2.074639	0.36566|0.36566	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000443883|ENST00000356860;ENST00000284088;ENST00000356253	.|T;T	.|0.06528	.|3.29;3.29	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.102244	.|0.64402	.|D	.|0.000004	T|T	0.06645|0.06645	0.0170|0.0170	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	.|B	.|0.19445	.|0.036	.|B	.|0.21917	.|0.037	T|T	0.23868|0.23868	-1.0176|-1.0176	5|10	.|0.45353	.|T	.|0.12	-28.3256|-28.3256	10.1733|10.1733	0.42924|0.42924	0.187:0.0:0.0:0.813|0.187:0.0:0.0:0.813	.|.	.|691	.|P54289-2	.|.	V|S	202|691;710;703	.|ENSP00000349320:N691S;ENSP00000348589:N703S	.|ENSP00000284088:N710S	I|N	-|-	1|2	0|0	CACNA2D1|CACNA2D1	81439098|81439098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	3.787000|3.787000	0.55439|0.55439	1.953000|1.953000	0.56701|0.56701	0.477000|0.477000	0.44152|0.44152	ATA|AAT	CACNA2D1	-	NULL	ENSG00000153956		0.274	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		149	0.00	0	T			81601162	81601162	-1	no_errors	ENST00000356253	ensembl	human	known	69_37n	missense	85	25.44	29	SNP	1.000	C
CACNA2D1	781	genome.wustl.edu	37	7	81643792	81643792	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:81643792G>A	ENST00000356253.5	-	13	1402	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.R383C|MIR1255B1_ENST00000454066.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	383	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTGAATACACGTACCTGGATG	0.323																																						dbGAP											0													75.0	72.0	73.0					7																	81643792		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1147C>T	7.37:g.81643792G>A	ENSP00000348589:p.Arg383Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R383C	ENST00000356253.5	37	c.1147		7	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546732	0.65198	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	D;D	0.83837	-1.77;-1.77	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93488	0.6833	10	0.87932	D	0	-11.1844	17.5849	0.87978	0.0:0.0:1.0:0.0	.	383	P54289-2	.	C	383	ENSP00000349320:R383C;ENSP00000348589:R383C	ENSP00000284088:R383C	R	-	1	0	CACNA2D1	81481728	1.000000	0.71417	0.999000	0.59377	0.596000	0.36781	5.867000	0.69597	2.451000	0.82905	0.305000	0.20034	CGT	CACNA2D1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000153956		0.323	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		165	0.00	0	G			81643792	81643792	-1	no_errors	ENST00000356253	ensembl	human	known	69_37n	missense	104	16.80	21	SNP	1.000	A
CACNG3	10368	genome.wustl.edu	37	16	24366264	24366264	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:24366264C>T	ENST00000005284.3	+	3	1608	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	136					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAACGTCATTCTCAGCGCGGG	0.587																																						dbGAP											0													61.0	54.0	56.0					16																	24366264		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.406C>T	16.37:g.24366264C>T	ENSP00000005284:p.Leu136Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.L136F	ENST00000005284.3	37	c.406	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934418	0.73442	.	.	ENSG00000006116	ENST00000005284	T	0.81078	-1.45	5.41	5.41	0.78517	.	0.129058	0.52532	D	0.000076	D	0.84772	0.5546	L	0.45285	1.41	0.80722	D	1	D	0.63880	0.993	D	0.67382	0.951	T	0.78816	-0.2055	10	0.13108	T	0.6	-23.9301	18.9864	0.92771	0.0:1.0:0.0:0.0	.	136	O60359	CCG3_HUMAN	F	136	ENSP00000005284:L136F	ENSP00000005284:L136F	L	+	1	0	CACNG3	24273765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.089000	0.76909	2.815000	0.96918	0.561000	0.74099	CTC	CACNG3	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000006116		0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	215	0.00	0	C	NM_006539		24366264	24366264	+1	no_errors	ENST00000005284	ensembl	human	known	69_37n	missense	91	32.59	44	SNP	1.000	T
CADPS	8618	genome.wustl.edu	37	3	62385187	62385187	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:62385187C>T	ENST00000383710.4	-	30	4305	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R1240Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R1280Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1319	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGACGGTTCCGGATCGTTTC	0.498																																						dbGAP											0													183.0	160.0	168.0					3																	62385187		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3956G>A	3.37:g.62385187C>T	ENSP00000373215:p.Arg1319Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1319Q	ENST00000383710.4	37	c.3956	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.29|14.29	2.492386|2.492386	0.44352|0.44352	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.30981	.|1.51;1.51;1.51	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48447|0.48447	0.1500|0.1500	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;D;D;P	.|0.76494	.|0.757;0.999;0.999;0.883	.|B;D;D;B	.|0.72625	.|0.194;0.975;0.978;0.334	T|T	0.12426|0.12426	-1.0548|-1.0548	5|10	.|0.29301	.|T	.|0.29	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1240;1280;1319;1324	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	R|Q	311|1325;1319;1240;1280	.|ENSP00000373215:R1319Q;ENSP00000350632:R1240Q;ENSP00000283269:R1280Q	.|ENSP00000283269:R1280Q	G|R	-|-	1|2	0|0	CADPS|CADPS	62360227|62360227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.511000|0.511000	0.34104|0.34104	5.727000|5.727000	0.68523|0.68523	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GGA|CGG	CADPS	-	NULL	ENSG00000163618		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	256	0.00	0	C	NM_003716, NM_183393, NM_183394		62385187	62385187	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	missense	233	10.73	28	SNP	1.000	T
CADPS2	93664	genome.wustl.edu	37	7	122255307	122255307	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:122255307C>T	ENST00000449022.2	-	6	1170	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	CADPS2_ENST00000313070.7_Missense_Mutation_p.R384Q|CADPS2_ENST00000334010.7_Missense_Mutation_p.R384Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.R384Q	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	384	C2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTAAACAATTCGATTGGGAGC	0.368																																						dbGAP											0													66.0	60.0	62.0					7																	122255307		1863	4097	5960	-	-	-	SO:0001583	missense	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1151G>A	7.37:g.122255307C>T	ENSP00000398481:p.Arg384Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R384Q	ENST00000449022.2	37	c.1151	CCDS55158.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.797908	0.96952	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.125181	0.56097	D	0.000040	D	0.83280	0.5220	M	0.62723	1.935	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.998	P;D;D	0.75484	0.657;0.978;0.986	D	0.84283	0.0495	10	0.87932	D	0	-8.4122	19.5923	0.95520	0.0:1.0:0.0:0.0	.	384;384;384	Q86UW7-2;Q86UW7;Q86UW7-3	.;CAPS2_HUMAN;.	Q	384;384;384;351;384;384	ENSP00000325581:R384Q;ENSP00000333940:R384Q;ENSP00000400401:R384Q;ENSP00000398481:R384Q	ENSP00000325581:R384Q	R	-	2	0	CADPS2	122042543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.645000	0.89757	0.655000	0.94253	CGA	CADPS2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000081803		0.368	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	398	0.00	0	C	NM_017954		122255307	122255307	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	missense	231	13.16	35	SNP	1.000	T
CAGE1	285782	genome.wustl.edu	37	6	7327107	7327107	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7327107C>A	ENST00000512086.1	-	12	2520	c.2318G>T	c.(2317-2319)aGa>aTa	p.R773I	CAGE1_ENST00000502583.1_Missense_Mutation_p.R835I|CAGE1_ENST00000379918.4_Missense_Mutation_p.R813I|CAGE1_ENST00000296742.7_Missense_Mutation_p.R637I|SSR1_ENST00000488834.1_Intron			Q8TC20	CAGE1_HUMAN	cancer antigen 1	773										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TAAATCATTTCTATTTTCTTT	0.343																																						dbGAP											0													87.0	90.0	89.0					6																	7327107		1793	4056	5849	-	-	-	SO:0001583	missense	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2318G>T	6.37:g.7327107C>A	ENSP00000427583:p.Arg773Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.R637I	ENST00000512086.1	37	c.1910		6	.	.	.	.	.	.	.	.	.	.	C	9.275	1.046588	0.19748	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086	T;T;T;T	0.39997	1.08;1.05;1.1;1.09	3.19	1.27	0.21489	.	1.649760	0.04228	N	0.334768	T	0.16041	0.0386	L	0.40543	1.245	0.80722	D	1	B;B	0.26809	0.16;0.16	B;B	0.19391	0.025;0.025	T	0.35475	-0.9787	10	0.87932	D	0	.	3.485	0.07617	0.2508:0.6087:0.0:0.1405	.	835;773	D6RCT9;Q8TC20	.;CAGE1_HUMAN	I	773;813;835;637;773	ENSP00000369250:R813I;ENSP00000425493:R835I;ENSP00000296742:R637I;ENSP00000427583:R773I	ENSP00000296742:R637I	R	-	2	0	CAGE1	7272106	0.975000	0.34042	0.973000	0.42090	0.223000	0.24884	0.239000	0.18023	0.173000	0.19788	0.561000	0.74099	AGA	CAGE1	-	NULL	ENSG00000164304		0.343	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	89	0.00	0	C	NM_175745		7327107	7327107	-1	no_errors	ENST00000296742	ensembl	human	known	69_37n	missense	100	13.79	16	SNP	0.997	A
CAGE1	285782	genome.wustl.edu	37	6	7334289	7334289	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7334289T>C	ENST00000512086.1	-	10	2420	c.2218A>G	c.(2218-2220)Att>Gtt	p.I740V	CAGE1_ENST00000502583.1_Missense_Mutation_p.I802V|CAGE1_ENST00000379918.4_Missense_Mutation_p.I780V|CAGE1_ENST00000296742.7_Missense_Mutation_p.I604V|SSR1_ENST00000488834.1_5'UTR|CAGE1_ENST00000338150.4_Missense_Mutation_p.I767V			Q8TC20	CAGE1_HUMAN	cancer antigen 1	740										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GGCTTTCTAATTAAATCCTCT	0.289																																						dbGAP											0													47.0	41.0	43.0					6																	7334289		1758	3993	5751	-	-	-	SO:0001583	missense	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2218A>G	6.37:g.7334289T>C	ENSP00000427583:p.Ile740Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.I767V	ENST00000512086.1	37	c.2299		6	.	.	.	.	.	.	.	.	.	.	T	14.14	2.445816	0.43429	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150	T;T;T;T;T	0.39056	1.24;1.1;1.11;1.11;1.12	4.62	-0.744	0.11101	.	0.903608	0.09352	N	0.813997	T	0.09335	0.0230	N	0.25647	0.755	0.23107	N	0.998288	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.20184	0.015;0.028;0.028	T	0.34875	-0.9811	10	0.28530	T	0.3	-0.1543	3.2908	0.06948	0.1747:0.3158:0.0:0.5096	.	767;802;740	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	V	740;780;802;604;740;767	ENSP00000369250:I780V;ENSP00000425493:I802V;ENSP00000296742:I604V;ENSP00000427583:I740V;ENSP00000338107:I767V	ENSP00000296742:I604V	I	-	1	0	CAGE1	7279288	0.998000	0.40836	0.984000	0.44739	0.985000	0.73830	0.094000	0.15107	-0.181000	0.10619	0.477000	0.44152	ATT	CAGE1	-	NULL	ENSG00000164304		0.289	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	375	0.00	0	T	NM_175745		7334289	7334289	-1	no_errors	ENST00000338150	ensembl	human	known	69_37n	missense	335	12.50	48	SNP	0.994	C
CAGE1	285782	genome.wustl.edu	37	6	7373468	7373468	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7373468C>T	ENST00000512086.1	-	5	1786	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	CAGE1_ENST00000502583.1_Silent_p.T528T|CAGE1_ENST00000379918.4_Silent_p.T528T|CAGE1_ENST00000296742.7_Silent_p.T392T|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000338150.4_Silent_p.T528T			Q8TC20	CAGE1_HUMAN	cancer antigen 1	528										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTATATTCTTCGTTCTTTCAT	0.333																																						dbGAP											0													112.0	89.0	96.0					6																	7373468		1814	4070	5884	-	-	-	SO:0001819	synonymous_variant	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1584G>A	6.37:g.7373468C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	NULL	p.T528	ENST00000512086.1	37	c.1584		6																																																																																			CAGE1	-	NULL	ENSG00000164304		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	HGNC	protein_coding	OTTHUMT00000367136.1	273	0.36	1	C	NM_175745		7373468	7373468	-1	no_errors	ENST00000338150	ensembl	human	known	69_37n	silent	169	35.74	94	SNP	0.012	T
CALCOCO2	10241	genome.wustl.edu	37	17	46928952	46928952	+	Nonsense_Mutation	SNP	G	G	T	rs118148373	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:46928952G>T	ENST00000258947.3	+	7	765	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	CALCOCO2_ENST00000508679.1_Nonsense_Mutation_p.E150*|CALCOCO2_ENST00000416445.2_Nonsense_Mutation_p.E180*|CALCOCO2_ENST00000448105.2_Nonsense_Mutation_p.E246*|CALCOCO2_ENST00000509507.1_Nonsense_Mutation_p.E243*	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	222					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GATGTCCTCAGAAAATGAGAA	0.418																																						dbGAP											0													164.0	151.0	155.0					17																	46928952		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.664G>T	17.37:g.46928952G>T	ENSP00000258947:p.Glu222*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Nonsense_Mutation	SNP	pfam_CoCoA	p.E222*	ENST00000258947.3	37	c.664	CCDS11538.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.429071	0.96131	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000513119;ENST00000416445;ENST00000508679	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-28.4809	14.6765	0.68983	0.0:0.0:1.0:0.0	.	.	.	.	X	222;243;246;150;180;150	.	ENSP00000258947:E222X	E	+	1	0	CALCOCO2	44283951	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.582000	0.60957	2.845000	0.97973	0.655000	0.94253	GAA	CALCOCO2	-	pfam_CoCoA	ENSG00000136436		0.418	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1	332	0.00	0	G	NM_005831		46928952	46928952	+1	no_errors	ENST00000258947	ensembl	human	known	69_37n	nonsense	259	13.95	42	SNP	1.000	T
CALCR	799	genome.wustl.edu	37	7	93055814	93055814	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:93055814G>A	ENST00000394441.1	-	13	1594	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	CALCR_ENST00000426151.1_Missense_Mutation_p.R427C|CALCR_ENST00000359558.2_Missense_Mutation_p.R461C|CALCR_ENST00000360249.4_Missense_Mutation_p.R443C|CALCR_ENST00000421592.1_Missense_Mutation_p.R443C	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	461					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.R427C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCTGCAGCGCGAGCAGAGCGG	0.587																																						dbGAP											1	Substitution - Missense(1)	lung(1)											72.0	77.0	75.0					7																	93055814		2203	4300	6503	-	-	-	SO:0001583	missense	0			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1279C>T	7.37:g.93055814G>A	ENSP00000377959:p.Arg427Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R461C	ENST00000394441.1	37	c.1381	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059933	0.36373	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.50001	0.76;0.77;0.77;0.9;0.9	4.49	-5.24	0.02789	.	.	.	.	.	T	0.27629	0.0679	L	0.29908	0.895	0.09310	N	1	B;P	0.35011	0.001;0.48	B;B	0.34301	0.005;0.179	T	0.21348	-1.0248	9	0.56958	D	0.05	.	3.1016	0.06328	0.3587:0.3892:0.157:0.0951	.	461;427	F5H605;A4D1G6	.;.	C	461;443;443;427;427	ENSP00000352561:R461C;ENSP00000353385:R443C;ENSP00000399552:R443C;ENSP00000377959:R427C;ENSP00000389295:R427C	ENSP00000352561:R461C	R	-	1	0	CALCR	92893750	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.201000	0.09464	-0.975000	0.03546	0.585000	0.79938	CGC	CALCR	-	NULL	ENSG00000004948		0.587	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	HGNC	protein_coding	OTTHUMT00000254661.2	56	0.00	0	G	NM_001742		93055814	93055814	-1	no_errors	ENST00000359558	ensembl	human	known	69_37n	missense	37	29.63	16	SNP	0.006	A
CALD1	800	genome.wustl.edu	37	7	134618525	134618525	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:134618525G>T	ENST00000361675.2	+	5	1234	c.1005G>T	c.(1003-1005)gaG>gaT	p.E335D	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	335	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aggaggaagagaaaagggcag	0.522																																						dbGAP											0													59.0	76.0	70.0					7																	134618525		2173	4266	6439	-	-	-	SO:0001583	missense	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1005G>T	7.37:g.134618525G>T	ENSP00000354826:p.Glu335Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.E335D	ENST00000361675.2	37	c.1005	CCDS5835.1	7	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197647	0.09652	.	.	ENSG00000122786	ENST00000361675	T	0.61274	0.12	3.29	-2.58	0.06228	.	.	.	.	.	T	0.45094	0.1325	L	0.56769	1.78	0.09310	N	0.999998	B	0.06786	0.001	B	0.08055	0.003	T	0.28839	-1.0031	8	.	.	.	.	4.0493	0.09788	0.3428:0.0:0.5116:0.1455	.	335	Q05682	CALD1_HUMAN	D	335	ENSP00000354826:E335D	.	E	+	3	2	CALD1	134269065	0.831000	0.29352	0.000000	0.03702	0.175000	0.22909	0.395000	0.20850	-1.066000	0.03164	-0.379000	0.06801	GAG	CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.522	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	3702	0.03	1	G	NM_033138		134618525	134618525	+1	no_errors	ENST00000361675	ensembl	human	novel	69_37n	missense	2727	12.93	405	SNP	0.016	T
CALHM2	51063	genome.wustl.edu	37	10	105207163	105207163	+	Missense_Mutation	SNP	G	G	A	rs554630072	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:105207163G>A	ENST00000260743.5	-	4	1241	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	CALHM2_ENST00000369788.3_Missense_Mutation_p.R240W|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	240					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCGAGCACCCGAGAGTGCACC	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		20502	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													69.0	63.0	65.0					10																	105207163		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.718C>T	10.37:g.105207163G>A	ENSP00000260743:p.Arg240Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	NULL	p.R240W	ENST00000260743.5	37	c.718	CCDS7549.1	10	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575515	0.65878	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	T;T	0.19105	2.17;2.17	5.37	3.41	0.39046	.	0.188775	0.40302	N	0.001130	T	0.19967	0.0480	M	0.69358	2.11	0.48236	D	0.999619	P	0.42827	0.791	B	0.28553	0.091	T	0.07102	-1.0790	10	0.87932	D	0	-24.0718	13.8384	0.63424	0.0:0.0:0.3249:0.6751	.	240	Q9HA72	CAHM2_HUMAN	W	240	ENSP00000358803:R240W;ENSP00000260743:R240W	ENSP00000260743:R240W	R	-	1	2	CALHM2	105197153	0.979000	0.34478	0.735000	0.30896	0.979000	0.70002	1.861000	0.39438	0.543000	0.28864	0.561000	0.74099	CGG	CALHM2	-	NULL	ENSG00000138172		0.602	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM2	HGNC	protein_coding	OTTHUMT00000050159.1	75	0.00	0	G	NM_015916		105207163	105207163	-1	no_errors	ENST00000260743	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.650	A
CAMK2B	816	genome.wustl.edu	37	7	44283066	44283067	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:44283066_44283067CG>AA	ENST00000395749.2	-	7	550_551	c.474_475CG>TT	c.(472-477)ttCGgc>ttTTgc	p.G159C	CAMK2B_ENST00000358707.3_Missense_Mutation_p.G159C|CAMK2B_ENST00000258682.6_Missense_Mutation_p.G159C|CAMK2B_ENST00000457475.1_Missense_Mutation_p.G159C|CAMK2B_ENST00000502837.2_Missense_Mutation_p.G30C|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G159C|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G159C|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G159C|CAMK2B_ENST00000346990.4_Missense_Mutation_p.G159C|CAMK2B_ENST00000395747.2_Missense_Mutation_p.G159C|CAMK2B_ENST00000353625.4_Missense_Mutation_p.G159C	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ATAGCTAGGCCGAAGTCTGCCA	0.609																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.474_475delinsAA	7.37:g.44283066_44283067delinsAA	ENSP00000379098:p.Gly159Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation|Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G159C|p.F158	ENST00000395749.2	37	c.475|c.474	CCDS5483.1	7																																																																																			CAMK2B	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000058404		0.609	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	61	0.00	0	C|G	NM_172084		44283066|44283067	44283066|44283067	-1	no_errors	ENST00000395749	ensembl	human	known	69_37n	missense|silent	39|31	11.36|27.27	5|12	SNP	1.000	A
CAMSAP1	157922	genome.wustl.edu	37	9	138703279	138703279	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:138703279C>T	ENST00000389532.4	-	17	4749	c.4685G>A	c.(4684-4686)cGa>cAa	p.R1562Q	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R1573Q|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R1284Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1562	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AAACTGTTTTCGGTCTGAGCT	0.478																																						dbGAP											0													239.0	193.0	208.0					9																	138703279		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4685G>A	9.37:g.138703279C>T	ENSP00000374183:p.Arg1562Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.R1573Q	ENST00000389532.4	37	c.4718	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	36	5.669019	0.96754	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.18016	2.25;2.24;2.25	5.2	5.2	0.72013	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.989	T	0.38908	-0.9639	10	0.87932	D	0	.	19.0966	0.93255	0.0:1.0:0.0:0.0	.	1562;1573	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1562;1284;1573	ENSP00000374183:R1562Q;ENSP00000312463:R1284Q;ENSP00000386420:R1573Q	ENSP00000312463:R1284Q	R	-	2	0	CAMSAP1	137843100	1.000000	0.71417	0.904000	0.35570	0.980000	0.70556	7.662000	0.83803	2.582000	0.87167	0.561000	0.74099	CGA	CAMSAP1	-	pfam_CKK_domain,superfamily_PRC_barrell-like	ENSG00000130559		0.478	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	247	0.00	0	C	XM_351857		138703279	138703279	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	179	35.71	100	SNP	1.000	T
CAMSAP1	157922	genome.wustl.edu	37	9	138703317	138703317	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:138703317C>A	ENST00000389532.4	-	17	4711	c.4647G>T	c.(4645-4647)aaG>aaT	p.K1549N	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.K1560N|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.K1271N	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1549	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.K1549N(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGATCATTTTCTTGGTGATGT	0.463																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											219.0	175.0	190.0					9																	138703317		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4647G>T	9.37:g.138703317C>A	ENSP00000374183:p.Lys1549Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.K1560N	ENST00000389532.4	37	c.4680	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185840	0.78789	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15718	2.4;2.4;2.4	5.2	4.3	0.51218	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.048847	0.85682	D	0.000000	T	0.32406	0.0828	L	0.41236	1.265	0.58432	D	0.999999	D;P	0.71674	0.998;0.928	D;P	0.81914	0.995;0.777	T	0.06058	-1.0848	10	0.87932	D	0	.	13.8964	0.63775	0.0:0.9261:0.0:0.0739	.	1549;1560	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	N	1549;1271;1560	ENSP00000374183:K1549N;ENSP00000312463:K1271N;ENSP00000386420:K1560N	ENSP00000312463:K1271N	K	-	3	2	CAMSAP1	137843138	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.720000	0.61944	1.321000	0.45227	0.561000	0.74099	AAG	CAMSAP1	-	pfam_CKK_domain,superfamily_PRC_barrell-like	ENSG00000130559		0.463	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	252	0.00	0	C	XM_351857		138703317	138703317	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	217	18.11	48	SNP	1.000	A
CAMSAP2	23271	genome.wustl.edu	37	1	200730053	200730053	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:200730053C>A	ENST00000236925.4	+	2	275	c.226C>A	c.(226-228)Cta>Ata	p.L76I	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L76I|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L76I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	76					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TAATTTGCTTCTATCGGCTGA	0.418																																						dbGAP											0													170.0	171.0	171.0					1																	200730053		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.226C>A	1.37:g.200730053C>A	ENSP00000236925:p.Leu76Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.L76I	ENST00000236925.4	37	c.226		1	.	.	.	.	.	.	.	.	.	.	C	31	5.097049	0.94197	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.17054	2.3;2.31;2.3	5.5	5.5	0.81552	.	0.070975	0.64402	D	0.000017	T	0.44664	0.1304	M	0.75615	2.305	0.80722	D	1	D;P;D	0.71674	0.998;0.642;0.975	D;B;P	0.83275	0.996;0.145;0.644	T	0.09314	-1.0680	10	0.37606	T	0.19	-14.3543	19.5916	0.95514	0.0:1.0:0.0:0.0	.	76;76;76	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	I	76	ENSP00000351684:L76I;ENSP00000416800:L76I;ENSP00000236925:L76I	ENSP00000236925:L76I	L	+	1	2	CAMSAP1L1	198996676	1.000000	0.71417	0.851000	0.33527	0.990000	0.78478	4.489000	0.60309	2.861000	0.98227	0.655000	0.94253	CTA	CAMSAP2	-	NULL	ENSG00000118200		0.418	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	248	0.00	0	C	NM_203459		200730053	200730053	+1	no_errors	ENST00000236925	ensembl	human	known	69_37n	missense	169	36.23	96	SNP	1.000	A
CAMSAP3	57662	genome.wustl.edu	37	19	7682468	7682468	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:7682468A>C	ENST00000160298.4	+	16	3466	c.3365A>C	c.(3364-3366)aAg>aCg	p.K1122T	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.K1149T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1122	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AAGTCCAACAAGTTCATCATC	0.612																																						dbGAP											0													88.0	91.0	90.0					19																	7682468		2103	4240	6343	-	-	-	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3365A>C	19.37:g.7682468A>C	ENSP00000160298:p.Lys1122Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.K1149T	ENST00000160298.4	37	c.3446	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422948	0.83559	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.22743	1.95;1.94	5.27	5.27	0.74061	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.78456	2.415	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.999;1.0;0.999	T	0.52638	-0.8549	10	0.87932	D	0	-33.2497	14.1588	0.65434	1.0:0.0:0.0:0.0	.	1133;1122;1149	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	T	1149;1122	ENSP00000416797:K1149T;ENSP00000160298:K1122T	ENSP00000160298:K1122T	K	+	2	0	KIAA1543	7588468	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	7.420000	0.80191	1.993000	0.58246	0.379000	0.24179	AAG	CAMSAP3	-	pfam_CKK_domain,superfamily_PRC_barrell-like	ENSG00000076826		0.612	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	107	0.93	1	A	XM_048362		7682468	7682468	+1	no_errors	ENST00000446248	ensembl	human	known	69_37n	missense	52	32.47	25	SNP	1.000	C
CAMTA1	23261	genome.wustl.edu	37	1	6885184	6885184	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:6885184A>C	ENST00000303635.7	+	3	355	c.148A>C	c.(148-150)Aaa>Caa	p.K50Q	CAMTA1_ENST00000467404.2_Missense_Mutation_p.K62Q|CAMTA1_ENST00000476163.1_3'UTR|CAMTA1_ENST00000439411.2_Missense_Mutation_p.K50Q|CAMTA1_ENST00000473578.1_Missense_Mutation_p.K50Q|CAMTA1_ENST00000557126.1_Missense_Mutation_p.K50Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TAGTCATGTAAAAATCTTTTT	0.333			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													70.0	75.0	73.0					1																	6885184		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.148A>C	1.37:g.6885184A>C	ENSP00000306522:p.Lys50Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.K50Q	ENST00000303635.7	37	c.148	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.859655	0.91433	.	.	ENSG00000171735	ENST00000303635;ENST00000473578;ENST00000557126;ENST00000467404;ENST00000439411	T;T	0.37915	1.17;1.18	6.05	6.05	0.98169	.	0.084756	0.44097	D	0.000493	T	0.39200	0.1069	N	0.08118	0	0.39119	D	0.961622	D	0.76494	0.999	D	0.63488	0.915	T	0.52155	-0.8613	10	0.62326	D	0.03	-9.8966	15.7743	0.78198	1.0:0.0:0.0:0.0	.	50	Q9Y6Y1	CMTA1_HUMAN	Q	50;50;50;62;50	ENSP00000306522:K50Q;ENSP00000402561:K50Q	ENSP00000306522:K50Q	K	+	1	0	CAMTA1	6807771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.170000	0.94795	2.320000	0.78422	0.528000	0.53228	AAA	CAMTA1	-	NULL	ENSG00000171735		0.333	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	288	0.00	0	A	NM_015215		6885184	6885184	+1	no_errors	ENST00000303635	ensembl	human	known	69_37n	missense	187	15.00	33	SNP	1.000	C
CAND1	55832	genome.wustl.edu	37	12	67696164	67696164	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:67696164G>A	ENST00000545606.1	+	8	1499	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	354					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GTGCAGCTGCGAAGTGCTTGG	0.418																																						dbGAP											0													211.0	200.0	204.0					12																	67696164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1062G>A	12.37:g.67696164G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.A354	ENST00000545606.1	37	c.1062	CCDS8977.1	12																																																																																			CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.418	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	249	0.00	0	G	NM_018448		67696164	67696164	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	silent	126	46.19	109	SNP	0.953	A
CAND1	55832	genome.wustl.edu	37	12	67698921	67698921	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:67698921G>A	ENST00000545606.1	+	10	1910	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	491					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAAGCTCATCGAATTTGAAGA	0.368																																						dbGAP											0													131.0	118.0	122.0					12																	67698921		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1473G>A	12.37:g.67698921G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S491	ENST00000545606.1	37	c.1473	CCDS8977.1	12																																																																																			CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	153	0.00	0	G	NM_018448		67698921	67698921	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	silent	78	26.42	28	SNP	0.642	A
CAND1	55832	genome.wustl.edu	37	12	67705537	67705537	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:67705537T>C	ENST00000545606.1	+	14	3862	c.3425T>C	c.(3424-3426)tTg>tCg	p.L1142S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1142					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGCAGAGGTTGGACCGACTT	0.403																																						dbGAP											0													155.0	137.0	143.0					12																	67705537		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3425T>C	12.37:g.67705537T>C	ENSP00000442318:p.Leu1142Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.L1142S	ENST00000545606.1	37	c.3425	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874544	0.91664	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.78126	-1.15;-1.15	5.79	5.79	0.91817	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91415	0.7291	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.971	D	0.93676	0.6994	9	.	.	.	-5.5822	16.1276	0.81406	0.0:0.0:0.0:1.0	.	974;1142	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	S	1142;1142;682	ENSP00000442318:L1142S;ENSP00000444089:L682S	.	L	+	2	0	CAND1	65991804	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.782000	0.85680	2.219000	0.72066	0.402000	0.26972	TTG	CAND1	-	pfam_TATA-bd_TIP120,superfamily_ARM-type_fold	ENSG00000111530		0.403	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	202	0.00	0	T	NM_018448		67705537	67705537	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	missense	89	29.37	37	SNP	1.000	C
CAPS2	84698	genome.wustl.edu	37	12	75692473	75692473	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:75692473A>C	ENST00000409445.3	-	12	1291	c.1095T>G	c.(1093-1095)ttT>ttG	p.F365L	CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron|RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.F133L|CAPS2_ENST00000409799.1_Missense_Mutation_p.F283L	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	365							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTACAACATAAAAATCACCAA	0.383																																						dbGAP											0													139.0	136.0	137.0					12																	75692473		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1095T>G	12.37:g.75692473A>C	ENSP00000386959:p.Phe365Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F365L	ENST00000409445.3	37	c.1095	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	A	14.34	2.507525	0.44558	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.24151	2.07;1.87;1.9	5.49	4.35	0.52113	.	0.239624	0.36972	N	0.002318	T	0.18923	0.0454	L	0.42686	1.345	0.80722	D	1	B;B;B;B	0.16802	0.006;0.005;0.019;0.003	B;B;B;B	0.16289	0.014;0.01;0.015;0.006	T	0.07046	-1.0793	10	0.19590	T	0.45	-7.5195	7.1692	0.25708	0.7705:0.0:0.2295:0.0	.	133;101;365;283	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	L	283;365;101;133	ENSP00000386977:F283L;ENSP00000386959:F365L;ENSP00000376963:F133L	ENSP00000367975:F101L	F	-	3	2	CAPS2	73978740	0.997000	0.39634	1.000000	0.80357	0.934000	0.57294	0.397000	0.20883	0.945000	0.37605	0.443000	0.29094	TTT	CAPS2	-	NULL	ENSG00000180881		0.383	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	537	0.00	0	A			75692473	75692473	-1	no_errors	ENST00000409445	ensembl	human	known	69_37n	missense	366	27.09	136	SNP	1.000	C
CAPZA2	830	genome.wustl.edu	37	7	116544384	116544384	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:116544384G>T	ENST00000361183.3	+	5	512	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	CAPZA2_ENST00000458284.2_Nonsense_Mutation_p.E125*|CAPZA2_ENST00000490693.1_Nonsense_Mutation_p.E125*	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	125					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AACTTCAGTAGAAACTGCTCT	0.398																																						dbGAP											0													117.0	106.0	109.0					7																	116544384		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.373G>T	7.37:g.116544384G>T	ENSP00000354947:p.Glu125*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG50	Nonsense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.E125*	ENST00000361183.3	37	c.373	CCDS5768.1	7	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523707	0.64747	.	.	ENSG00000198898	ENST00000361183;ENST00000458284;ENST00000490693	.	.	.	5.42	5.42	0.78866	.	0.051755	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.3078	19.573	0.95428	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000354947:E125X	E	+	1	0	CAPZA2	116331620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.809000	0.99208	2.687000	0.91594	0.655000	0.94253	GAA	CAPZA2	-	pfam_WASH_F-actin_cap_alpha	ENSG00000198898		0.398	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	276	0.00	0	G	NM_006136		116544384	116544384	+1	no_errors	ENST00000361183	ensembl	human	known	69_37n	nonsense	208	12.92	31	SNP	1.000	T
CARD11	84433	genome.wustl.edu	37	7	2951848	2951848	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:2951848G>A	ENST00000396946.4	-	23	3505	c.3102C>T	c.(3100-3102)ttC>ttT	p.F1034F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1034	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGATGCATTCGAACGCGTTGG	0.577			Mis		DLBCL																																	dbGAP		Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0																																										-	-	-	SO:0001819	synonymous_variant	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3102C>T	7.37:g.2951848G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.F1034	ENST00000396946.4	37	c.3102	CCDS5336.2	7																																																																																			CARD11	-	NULL	ENSG00000198286		0.577	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	95	0.00	0	G	NM_032415		2951848	2951848	-1	no_errors	ENST00000396946	ensembl	human	known	69_37n	silent	52	21.21	14	SNP	0.931	A
CAPZA2	830	genome.wustl.edu	37	7	116546394	116546394	+	Missense_Mutation	SNP	T	T	G	rs148390930	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:116546394T>G	ENST00000361183.3	+	6	643	c.504T>G	c.(502-504)ttT>ttG	p.F168L	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	168					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CAAAAAATTTTTGGTAAGTTA	0.333																																						dbGAP											0													70.0	75.0	73.0					7																	116546394		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.504T>G	7.37:g.116546394T>G	ENSP00000354947:p.Phe168Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG50	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.F168L	ENST00000361183.3	37	c.504	CCDS5768.1	7	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615707	0.87359	.	.	ENSG00000198898	ENST00000361183	.	.	.	5.59	-2.67	0.06059	.	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.90483	3.12	0.80722	D	1	P	0.49253	0.921	P	0.54346	0.749	T	0.77448	-0.2584	9	0.72032	D	0.01	-6.3251	11.9833	0.53131	0.0:0.457:0.0:0.543	.	168	P47755	CAZA2_HUMAN	L	168	.	ENSP00000354947:F168L	F	+	3	2	CAPZA2	116333630	1.000000	0.71417	0.975000	0.42487	0.911000	0.54048	1.137000	0.31479	-0.628000	0.05582	0.482000	0.46254	TTT	CAPZA2	-	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	ENSG00000198898		0.333	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	384	0.00	0	T	NM_006136		116546394	116546394	+1	no_errors	ENST00000361183	ensembl	human	known	69_37n	missense	233	28.09	91	SNP	0.998	G
CARD6	84674	genome.wustl.edu	37	5	40841638	40841638	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:40841638G>T	ENST00000254691.5	+	1	353	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	CARD6_ENST00000381677.3_Missense_Mutation_p.D52Y	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	52	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGTTACAGATCTCCTGAA	0.403																																						dbGAP											0													106.0	108.0	108.0					5																	40841638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.154G>T	5.37:g.40841638G>T	ENSP00000254691:p.Asp52Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.D52Y	ENST00000254691.5	37	c.154	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928244	0.73327	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.21191	2.02;2.02	4.88	4.88	0.63580	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.64402	D	0.000014	T	0.44052	0.1275	M	0.68952	2.095	0.39896	D	0.973839	D	0.89917	1.0	D	0.97110	1.0	T	0.43475	-0.9389	10	0.87932	D	0	-19.371	13.3789	0.60757	0.0:0.0:1.0:0.0	.	52	Q9BX69	CARD6_HUMAN	Y	52	ENSP00000254691:D52Y;ENSP00000371093:D52Y	ENSP00000254691:D52Y	D	+	1	0	CARD6	40877395	0.931000	0.31567	0.996000	0.52242	0.909000	0.53808	2.305000	0.43664	2.530000	0.85305	0.563000	0.77884	GAT	CARD6	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	ENSG00000132357		0.403	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	175	0.00	0	G			40841638	40841638	+1	no_errors	ENST00000254691	ensembl	human	known	69_37n	missense	157	10.80	19	SNP	1.000	T
CARD6	84674	genome.wustl.edu	37	5	40843429	40843429	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:40843429T>G	ENST00000254691.5	+	2	658	c.459T>G	c.(457-459)acT>acG	p.T153T	CARD6_ENST00000381677.3_Silent_p.T153T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	153					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACAAGAAAACTAGTTATAGGG	0.413																																						dbGAP											0													57.0	59.0	58.0					5																	40843429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.459T>G	5.37:g.40843429T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LR2	Silent	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.T153	ENST00000254691.5	37	c.459	CCDS3935.1	5																																																																																			CARD6	-	NULL	ENSG00000132357		0.413	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	98	0.00	0	T			40843429	40843429	+1	no_errors	ENST00000254691	ensembl	human	known	69_37n	silent	62	25.30	21	SNP	0.001	G
CARD6	84674	genome.wustl.edu	37	5	40853287	40853287	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:40853287G>T	ENST00000254691.5	+	3	2052	c.1853G>T	c.(1852-1854)aGa>aTa	p.R618I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	618					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GCTGGGGATAGAAGGAAGAAC	0.532																																						dbGAP											0													118.0	119.0	118.0					5																	40853287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1853G>T	5.37:g.40853287G>T	ENSP00000254691:p.Arg618Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	p.R618I	ENST00000254691.5	37	c.1853	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219429	0.22373	.	.	ENSG00000132357	ENST00000254691	T	0.13089	2.62	5.0	-0.72	0.11195	.	1.234140	0.05647	N	0.584499	T	0.16557	0.0398	M	0.65975	2.015	0.09310	N	1	P	0.51933	0.949	B	0.39805	0.31	T	0.42189	-0.9466	10	0.42905	T	0.14	-0.0083	10.204	0.43101	0.0967:0.636:0.2673:0.0	.	618	Q9BX69	CARD6_HUMAN	I	618	ENSP00000254691:R618I	ENSP00000254691:R618I	R	+	2	0	CARD6	40889044	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.426000	0.07008	-0.376000	0.07943	-0.305000	0.09177	AGA	CARD6	-	NULL	ENSG00000132357		0.532	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	201	0.00	0	G			40853287	40853287	+1	no_errors	ENST00000254691	ensembl	human	known	69_37n	missense	172	15.27	31	SNP	0.000	T
CARM1	10498	genome.wustl.edu	37	19	11015739	11015739	+	Silent	SNP	C	C	T	rs573080689		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11015739C>T	ENST00000327064.4	+	2	523	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CARM1_ENST00000344150.4_Silent_p.F111F	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	111					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCATCCAGTTCGCCACACCCA	0.622													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20567	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													214.0	148.0	171.0					19																	11015739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.333C>T	19.37:g.11015739C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_Arg_MeTrfase,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.R70C	ENST00000327064.4	37	c.208	CCDS12250.1	19																																																																																			CARM1	-	pfam_Histone-Arg_MeTrfase_N	ENSG00000142453		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	77	0.00	0	C	XM_032719		11015739	11015739	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586221	ensembl	human	known	69_37n	missense	47	17.54	10	SNP	0.995	T
CASC1	55259	genome.wustl.edu	37	12	25311419	25311419	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:25311419C>T	ENST00000320267.9	-	3	248	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	CASC1_ENST00000545133.1_Intron|CASC1_ENST00000395987.3_Missense_Mutation_p.R62Q|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000354189.5_Missense_Mutation_p.R120Q|CASC1_ENST00000395990.2_Missense_Mutation_p.R16Q	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	56	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGCTTCAAGTCGATGCCATTT	0.308																																						dbGAP											0													128.0	121.0	123.0					12																	25311419		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.167G>A	12.37:g.25311419C>T	ENSP00000313141:p.Arg56Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	pfam_Casc1_domain,prints_Casc1	p.R62Q	ENST00000320267.9	37	c.185	CCDS41762.1	12	.	.	.	.	.	.	.	.	.	.	c	0.140	-1.102921	0.01828	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000389246;ENST00000554347	T;T;T;T;T	0.47528	1.9;1.51;1.51;0.84;2.0	5.42	-2.14	0.07123	.	0.942753	0.08920	N	0.874528	T	0.18759	0.0450	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.009	B;B;B	0.09377	0.004;0.001;0.002	T	0.19031	-1.0318	10	0.12430	T	0.62	-0.184	1.2196	0.01921	0.2377:0.1539:0.1158:0.4926	.	120;56;62	Q6TDU7-3;Q6TDU7;F8W8F9	.;CASC1_HUMAN;.	Q	120;62;56;16;62;16;16	ENSP00000346126:R120Q;ENSP00000379310:R62Q;ENSP00000313141:R56Q;ENSP00000379313:R16Q;ENSP00000451232:R16Q	ENSP00000313141:R56Q	R	-	2	0	CASC1	25202686	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.786000	0.04623	-0.572000	0.06006	-1.580000	0.00857	CGA	CASC1	-	NULL	ENSG00000118307		0.308	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASC1	HGNC	protein_coding	OTTHUMT00000316761.1	597	0.00	0	C	NM_018272		25311419	25311419	-1	no_errors	ENST00000395987	ensembl	human	known	69_37n	missense	265	23.78	83	SNP	0.000	T
CASC5	57082	genome.wustl.edu	37	15	40949292	40949292	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40949292C>T	ENST00000346991.5	+	24	7005	c.6615C>T	c.(6613-6615)taC>taT	p.Y2205Y	CASC5_ENST00000399668.2_Silent_p.Y2179Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2205	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ttttccagtacgttgaagaaa	0.378																																						dbGAP											0													32.0	31.0	31.0					15																	40949292		1825	4086	5911	-	-	-	SO:0001819	synonymous_variant	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6615C>T	15.37:g.40949292C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.R1224C	ENST00000346991.5	37	c.3670	CCDS42023.1	15																																																																																			CASC5	-	NULL	ENSG00000137812		0.378	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	84	0.00	0	C	NM_144508		40949292	40949292	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526913	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.668	T
CASD1	64921	genome.wustl.edu	37	7	94146921	94146921	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:94146921G>T	ENST00000297273.4	+	2	470	c.183G>T	c.(181-183)gaG>gaT	p.E61D		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	61						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTTGGAGAGAAAGTTTGGC	0.328																																						dbGAP											0													187.0	176.0	179.0					7																	94146921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.183G>T	7.37:g.94146921G>T	ENSP00000297273:p.Glu61Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.E61D	ENST00000297273.4	37	c.183	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113497	0.20795	.	.	ENSG00000127995	ENST00000297273	D	0.91351	-2.83	5.28	2.09	0.27110	Cyclin-like (1);	0.095668	0.64402	D	0.000001	T	0.68035	0.2957	N	0.01874	-0.695	0.42460	D	0.992786	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12156	0.003;0.003;0.007	T	0.61700	-0.7009	10	0.02654	T	1	.	4.7252	0.12938	0.2887:0.0:0.5614:0.1499	.	61;61;61	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	D	61	ENSP00000297273:E61D	ENSP00000297273:E61D	E	+	3	2	CASD1	93984857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.048000	0.30379	0.630000	0.30394	0.655000	0.94253	GAG	CASD1	-	superfamily_Cyclin-like	ENSG00000127995		0.328	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	233	0.00	0	G	NM_022900		94146921	94146921	+1	no_errors	ENST00000297273	ensembl	human	known	69_37n	missense	176	20.36	45	SNP	1.000	T
CASP1	834	genome.wustl.edu	37	11	104903812	104903812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:104903812C>A	ENST00000533400.1	-	3	351	c.316G>T	c.(316-318)Gga>Tga	p.G106*	CASP1_ENST00000593315.1_Intron|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000393136.4_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Nonsense_Mutation_p.G67*|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000436863.3_Nonsense_Mutation_p.G106*|CASP1_ENST00000527979.1_Intron|CASP1_ENST00000525825.1_Intron|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000598974.1_Nonsense_Mutation_p.G106*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GAAAGTACTCCTTGAGAGTCT	0.363																																					NSCLC(41;1246 1743 4934)	dbGAP											0													91.0	96.0	95.0					11																	104903812		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.316G>T	11.37:g.104903812C>A	ENSP00000433138:p.Gly106*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Nonsense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.G106*	ENST00000533400.1	37	c.316	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	15.62	2.887620	0.52014	.	.	ENSG00000137752	ENST00000533400;ENST00000436863;ENST00000528974	.	.	.	3.04	0.0484	0.14285	.	1.790700	0.03814	U	0.266463	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	3.3409	0.07118	0.0:0.5186:0.2209:0.2605	.	.	.	.	X	106;106;67	.	ENSP00000410076:G106X	G	-	1	0	CASP1	104409022	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.256000	0.08757	0.016000	0.14998	-0.251000	0.11542	GGA	CASP1	-	pirsf_Caspase_IL-1_beta	ENSG00000137752		0.363	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	353	0.00	0	C	NM_033292		104903812	104903812	-1	no_errors	ENST00000436863	ensembl	human	known	69_37n	nonsense	227	14.02	37	SNP	0.000	A
CASP14	23581	genome.wustl.edu	37	19	15166022	15166022	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:15166022A>G	ENST00000427043.3	+	5	765	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E	CASP14_ENST00000221740.1_Missense_Mutation_p.K153E|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	153					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GATGGTCATCAAAGACAGCCC	0.507																																						dbGAP											0													141.0	128.0	132.0					19																	15166022		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.457A>G	19.37:g.15166022A>G	ENSP00000393417:p.Lys153Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.K153E	ENST00000427043.3	37	c.457	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	a	0.037	-1.302428	0.01353	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.20598	2.06;2.06	4.32	-2.04	0.07343	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	4.626230	0.00589	N	0.000341	T	0.12732	0.0309	L	0.28649	0.875	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20739	-1.0266	10	0.05525	T	0.97	.	5.1963	0.15239	0.4358:0.1657:0.3985:0.0	.	153	P31944	CASPE_HUMAN	E	153	ENSP00000393417:K153E;ENSP00000221740:K153E	ENSP00000221740:K153E	K	+	1	0	CASP14	15027022	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.836000	0.04229	-0.475000	0.04921	AAA	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core	ENSG00000105141		0.507	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	529	0.00	0	A	NM_012114		15166022	15166022	+1	no_errors	ENST00000221740	ensembl	human	known	69_37n	missense	332	28.76	134	SNP	0.000	G
CASP3	836	genome.wustl.edu	37	4	185550446	185550446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:185550446C>A	ENST00000308394.4	-	8	1076	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	CASP3_ENST00000523916.1_Nonsense_Mutation_p.E272*|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000517513.1_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	272					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	AAATAGAGTTCTTTTGTGAGC	0.363																																						dbGAP											0													137.0	153.0	148.0					4																	185550446		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.814G>T	4.37:g.185550446C>A	ENSP00000311032:p.Glu272*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5M2|D3DP53|Q96AN1|Q96KP2	Nonsense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E272*	ENST00000308394.4	37	c.814	CCDS3836.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.159084	0.94686	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	.	.	.	5.69	4.84	0.62591	.	0.244370	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9242	0.79603	0.1363:0.8637:0.0:0.0	.	.	.	.	X	272	.	ENSP00000311032:E272X	E	-	1	0	CASP3	185787440	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.725000	0.84808	1.367000	0.46095	0.650000	0.86243	GAA	CASP3	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,prints_Pept_C14_p45_core	ENSG00000164305		0.363	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP3	HGNC	protein_coding	OTTHUMT00000257885.2	244	0.00	0	C	NM_004346		185550446	185550446	-1	no_errors	ENST00000308394	ensembl	human	known	69_37n	nonsense	166	26.55	60	SNP	1.000	A
CASP5	838	genome.wustl.edu	37	11	104877880	104877880	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:104877880C>A	ENST00000260315.3	-	3	362	c.363G>T	c.(361-363)aaG>aaT	p.K121N	CASP5_ENST00000526056.1_Missense_Mutation_p.K134N|CASP5_ENST00000444749.2_Missense_Mutation_p.K63N|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.K88N|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.K134N			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	121	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCACGCGATTCTTTCGCAAAG	0.373																																						dbGAP											0													176.0	172.0	174.0					11																	104877880		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.363G>T	11.37:g.104877880C>A	ENSP00000260315:p.Lys121Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.K134N	ENST00000260315.3	37	c.402	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	13.36	2.215084	0.39102	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000456094	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	4.42	-0.222	0.13122	DEATH-like (2);Caspase Recruitment (3);	0.171372	0.51477	N	0.000083	T	0.31949	0.0813	L	0.46157	1.445	0.09310	N	1	P;B;P	0.50272	0.61;0.433;0.933	B;B;P	0.47603	0.178;0.178;0.551	T	0.36407	-0.9749	10	0.87932	D	0	.	13.6192	0.62128	0.0:0.3421:0.6579:0.0	.	63;121;134	P51878-2;P51878;P51878-5	.;CASP5_HUMAN;.	N	134;88;121;63;134;105	ENSP00000376849:K134N;ENSP00000376847:K88N;ENSP00000260315:K121N;ENSP00000388365:K63N;ENSP00000436877:K134N;ENSP00000415241:K105N	ENSP00000260315:K121N	K	-	3	2	CASP5	104383090	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.057000	0.11768	0.165000	0.19558	0.591000	0.81541	AAG	CASP5	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.373	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	597	0.00	0	C	NM_004347		104877880	104877880	-1	no_errors	ENST00000393141	ensembl	human	known	69_37n	missense	435	15.18	78	SNP	0.001	A
CASP8AP2	9994	genome.wustl.edu	37	6	90572336	90572336	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:90572336C>T	ENST00000551025.1	+	0	2345									caspase 8 associated protein 2									p.S303L(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGCAAAAGTTCGAAGTTTAAA	0.423																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											127.0	130.0	129.0					6																	90572336		1872	4118	5990	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572336C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.423	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		49	0.00	0	C	NM_001137667		90572336	90572336	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	53	29.33	22	SNP	0.924	T
CASQ2	845	genome.wustl.edu	37	1	116268149	116268149	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:116268149C>T	ENST00000261448.5	-	7	1002	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	CASQ2_ENST00000488931.1_5'Flank|CASQ2_ENST00000456138.2_Missense_Mutation_p.E184K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	255					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AACATTTCTTCTGGGCGCAGG	0.433																																						dbGAP											0													126.0	130.0	128.0					1																	116268149		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.763G>A	1.37:g.116268149C>T	ENSP00000261448:p.Glu255Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.E255K	ENST00000261448.5	37	c.763	CCDS884.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824756	0.90955	.	.	ENSG00000118729	ENST00000261448;ENST00000456138	T;T	0.76448	-1.02;-1.02	5.31	4.38	0.52667	Thioredoxin-like fold (2);	0.045801	0.85682	D	0.000000	D	0.82737	0.5102	M	0.69823	2.125	0.58432	D	0.999998	D;P	0.67145	0.996;0.882	D;P	0.67103	0.949;0.571	D	0.83400	0.0022	10	0.41790	T	0.15	-11.4355	15.9394	0.79743	0.0:0.8645:0.1355:0.0	.	184;255	B4DIB0;O14958	.;CASQ2_HUMAN	K	255;184	ENSP00000261448:E255K;ENSP00000403858:E184K	ENSP00000261448:E255K	E	-	1	0	CASQ2	116069672	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.115000	0.64655	1.583000	0.49898	0.650000	0.86243	GAA	CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.433	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	159	0.00	0	C	NM_001232		116268149	116268149	-1	no_errors	ENST00000261448	ensembl	human	known	69_37n	missense	82	32.23	39	SNP	1.000	T
CASS4	57091	genome.wustl.edu	37	20	55027302	55027302	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:55027302C>T	ENST00000360314.3	+	6	1295	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	CASS4_ENST00000371336.3_Missense_Mutation_p.S357L|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	357					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAAGCAACGTCGAGTGTTTCT	0.498																																						dbGAP											0													71.0	63.0	66.0					20																	55027302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1070C>T	20.37:g.55027302C>T	ENSP00000353462:p.Ser357Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S357L	ENST00000360314.3	37	c.1070	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788637	0.31685	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.33654	1.4;1.4	5.26	-0.219	0.13135	.	0.768919	0.12634	N	0.451918	T	0.26122	0.0637	L	0.43152	1.355	0.09310	N	1	B;B;B	0.14805	0.003;0.011;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.19451	-1.0305	10	0.44086	T	0.13	1.0616	5.9924	0.19474	0.1247:0.6051:0.0:0.2703	.	303;357;357	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	L	357	ENSP00000353462:S357L;ENSP00000360387:S357L	ENSP00000353462:S357L	S	+	2	0	CASS4	54460709	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.232000	0.17891	-0.194000	0.10399	-0.259000	0.10710	TCG	CASS4	-	NULL	ENSG00000087589		0.498	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	34	0.00	0	C	NM_020356		55027302	55027302	+1	no_errors	ENST00000360314	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	0.000	T
CASZ1	54897	genome.wustl.edu	37	1	10719793	10719793	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:10719793C>A	ENST00000377022.3	-	6	1623	c.1306G>T	c.(1306-1308)Gac>Tac	p.D436Y	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.D436Y	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	436					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGATGGAGTCTGTTTTGGAG	0.637																																						dbGAP											0													85.0	85.0	85.0					1																	10719793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1306G>T	1.37:g.10719793C>A	ENSP00000366221:p.Asp436Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D436Y	ENST00000377022.3	37	c.1306	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.462689	0.84425	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	N	0.22421	0.69	0.52501	D	0.999957	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	0.71059	-0.4702	9	0.87932	D	0	-43.4669	19.1904	0.93664	0.0:1.0:0.0:0.0	.	460;436;436;436	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	Y	436	.	ENSP00000339445:D436Y	D	-	1	0	CASZ1	10642380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.507000	0.66999	2.616000	0.88540	0.651000	0.88453	GAC	CASZ1	-	NULL	ENSG00000130940		0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	127	0.00	0	C	NM_017766		10719793	10719793	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	missense	61	24.69	20	SNP	1.000	A
CATSPER1	117144	genome.wustl.edu	37	11	65784558	65784558	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65784558G>A	ENST00000312106.5	-	11	2426	c.2289C>T	c.(2287-2289)atC>atT	p.I763I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	763					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAATCTCATCGATGACGGCTG	0.627																																						dbGAP											0													56.0	49.0	51.0					11																	65784558		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2289C>T	11.37:g.65784558G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96P76	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.I763	ENST00000312106.5	37	c.2289	CCDS8127.1	11																																																																																			CATSPER1	-	NULL	ENSG00000175294		0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	56	0.00	0	G	NM_053054		65784558	65784558	-1	no_errors	ENST00000312106	ensembl	human	known	69_37n	silent	23	37.84	14	SNP	0.001	A
CATSPER2P1	440278	genome.wustl.edu	37	15	44028388	44028388	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:44028388G>A	ENST00000381680.2	-	0	1396				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		ATAATAACTCGAATTTGACGG	0.488																																						dbGAP											0																																										-	-	-			0			BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44028388G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000381680.2	37	NULL		15																																																																																			CATSPER2P1	-	-	ENSG00000205771		0.488	CATSPER2P1-002	KNOWN	basic	processed_transcript	CATSPER2P1	HGNC	pseudogene	OTTHUMT00000133242.1	109	0.00	0	G	NR_002318		44028388	44028388	-1	no_errors	ENST00000381680	ensembl	human	known	69_37n	rna	99	12.39	14	SNP	1.000	A
CATSPER4	378807	genome.wustl.edu	37	1	26527450	26527450	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:26527450A>G	ENST00000456354.2	+	8	1184	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	373					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.T373S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGAAAACACGTGTGACAA	0.562																																						dbGAP											1	Substitution - Missense(1)	skin(1)											91.0	88.0	89.0					1																	26527450		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1117A>G	1.37:g.26527450A>G	ENSP00000390423:p.Thr373Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4W6|Q5VY71	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.T373A	ENST00000456354.2	37	c.1117	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831349	0.50845	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97480	-4.4;-4.4	4.65	3.52	0.40303	.	0.279602	0.25180	N	0.032535	D	0.94801	0.8321	M	0.63843	1.955	0.09310	N	1	B;B	0.19583	0.022;0.037	B;B	0.22386	0.03;0.039	D	0.89343	0.3655	10	0.59425	D	0.04	-4.426	6.9631	0.24608	0.8935:0.0:0.1065:0.0	.	373;357	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	A	373	ENSP00000341006:T373A;ENSP00000390423:T373A	ENSP00000341006:T373A	T	+	1	0	CATSPER4	26400037	0.742000	0.28228	0.040000	0.18447	0.108000	0.19459	2.942000	0.49018	0.649000	0.30751	0.260000	0.18958	ACG	CATSPER4	-	NULL	ENSG00000188782		0.562	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	HGNC	protein_coding	OTTHUMT00000019849.2	172	0.00	0	A	NM_198137		26527450	26527450	+1	no_errors	ENST00000456354	ensembl	human	known	69_37n	missense	114	20.28	29	SNP	0.025	G
CATSPERB	79820	genome.wustl.edu	37	14	92087993	92087993	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:92087993T>G	ENST00000256343.3	-	19	2375	c.2219A>C	c.(2218-2220)aAc>aCc	p.N740T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	740					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AACATAAGAGTTTCCCAGATC	0.313																																						dbGAP											0													115.0	112.0	113.0					14																	92087993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2219A>C	14.37:g.92087993T>G	ENSP00000256343:p.Asn740Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.N740T	ENST00000256343.3	37	c.2219	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522068	0.64747	.	.	ENSG00000133962	ENST00000256343	T	0.45668	0.89	5.43	2.91	0.33838	.	0.329868	0.25848	N	0.027903	T	0.28928	0.0718	L	0.39898	1.24	0.09310	N	1	B	0.24426	0.103	B	0.25140	0.058	T	0.13872	-1.0493	10	0.22109	T	0.4	-13.0253	6.1377	0.20243	0.0:0.0946:0.1761:0.7293	.	740	Q9H7T0	CTSRB_HUMAN	T	740	ENSP00000256343:N740T	ENSP00000256343:N740T	N	-	2	0	CATSPERB	91157746	0.004000	0.15560	0.155000	0.22561	0.819000	0.46315	0.320000	0.19540	0.897000	0.36392	0.482000	0.46254	AAC	CATSPERB	-	NULL	ENSG00000133962		0.313	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	337	0.00	0	T	NM_024764		92087993	92087993	-1	no_errors	ENST00000256343	ensembl	human	known	69_37n	missense	299	17.17	62	SNP	0.001	G
CATSPERB	79820	genome.wustl.edu	37	14	92159551	92159551	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:92159551C>T	ENST00000256343.3	-	9	906	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	250					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAAAATGATTCGTTAAAACCA	0.348																																						dbGAP											0													116.0	113.0	114.0					14																	92159551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.750G>A	14.37:g.92159551C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV51	Silent	SNP	superfamily_Neuraminidase	p.T250	ENST00000256343.3	37	c.750	CCDS32142.1	14																																																																																			CATSPERB	-	NULL	ENSG00000133962		0.348	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	172	0.00	0	C	NM_024764		92159551	92159551	-1	no_errors	ENST00000256343	ensembl	human	known	69_37n	silent	162	22.49	47	SNP	0.992	T
CBFA2T2	9139	genome.wustl.edu	37	20	32232411	32232411	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:32232411A>G	ENST00000346541.3	+	12	2311	c.1774A>G	c.(1774-1776)Aca>Gca	p.T592A	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.T592A|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.T602A|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.T583A|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.T563A|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.T140A|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.T563A	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	592					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCGTTCCTCAACACCTGCTTC	0.632																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	dbGAP											0													103.0	93.0	97.0					20																	32232411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1774A>G	20.37:g.32232411A>G	ENSP00000262653:p.Thr592Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.T592A	ENST00000346541.3	37	c.1774	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798398	0.90538	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.74;1.32	5.88	5.88	0.94601	.	0.046396	0.85682	D	0.000000	T	0.31167	0.0788	N	0.08118	0	0.58432	D	0.999998	B;B	0.28512	0.214;0.154	B;B	0.23716	0.031;0.048	T	0.21348	-1.0248	10	0.87932	D	0	-10.4808	16.3009	0.82811	1.0:0.0:0.0:0.0	.	592;583	O43439;F8W6D7	MTG8R_HUMAN;.	A	366;592;583;592;563;602;140	ENSP00000364428:T592A;ENSP00000345810:T583A;ENSP00000262653:T592A;ENSP00000380902:T563A;ENSP00000352622:T602A	ENSP00000345810:T583A	T	+	1	0	CBFA2T2	31696072	1.000000	0.71417	0.840000	0.33206	0.848000	0.48234	6.763000	0.74955	2.246000	0.74042	0.533000	0.62120	ACA	CBFA2T2	-	prints_MTGR1	ENSG00000078699		0.632	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	68	0.00	0	A	NM_001032999		32232411	32232411	+1	no_errors	ENST00000346541	ensembl	human	known	69_37n	missense	56	30.86	25	SNP	0.988	G
CBLB	868	genome.wustl.edu	37	3	105404165	105404165	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:105404165G>A	ENST00000264122.4	-	14	2521	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	CBLB_ENST00000394027.3_Splice_Site_p.R756W|CBLB_ENST00000403724.1_Splice_Site_p.R734W|CBLB_ENST00000405772.1_Splice_Site_p.R734W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	734	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TACTCTTACCGAACAGGAGGT	0.363			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													159.0	147.0	151.0					3																	105404165		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2201+1C>T	3.37:g.105404165G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.R734W	ENST00000264122.4	37	c.2200	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075787	0.55646	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.85629	-1.33;-1.92;-1.93;-2.01;-1.94	5.02	2.99	0.34606	.	0.178284	0.49916	D	0.000125	D	0.89996	0.6877	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.79108	0.824;0.992;0.936	D	0.90333	0.4353	10	0.87932	D	0	-11.06	12.615	0.56571	0.0:0.0:0.5829:0.4171	.	756;734;734	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	117;734;756;734;734	ENSP00000377598:R117W;ENSP00000264122:R734W;ENSP00000377595:R756W;ENSP00000384816:R734W;ENSP00000384938:R734W	ENSP00000264122:R734W	R	-	1	2	CBLB	106886855	0.997000	0.39634	1.000000	0.80357	0.913000	0.54294	1.222000	0.32515	0.927000	0.37143	0.484000	0.47621	CGG	CBLB	-	NULL	ENSG00000114423		0.363	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	543	0.00	0	G	NM_170662	Missense_Mutation	105404165	105404165	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	306	12.03	42	SNP	1.000	A
CBLB	868	genome.wustl.edu	37	3	105421040	105421040	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:105421040G>T	ENST00000264122.4	-	12	2178	c.1857C>A	c.(1855-1857)atC>atA	p.I619I	CBLB_ENST00000394027.3_Silent_p.I641I|CBLB_ENST00000403724.1_Silent_p.I619I|CBLB_ENST00000405772.1_Silent_p.I619I	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	619	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I619M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AACTCGCTGTGATTCCAGGTT	0.522			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	1	Substitution - Missense(1)	lung(1)											129.0	126.0	127.0					3																	105421040		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1857C>A	3.37:g.105421040G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.I619	ENST00000264122.4	37	c.1857	CCDS2948.1	3																																																																																			CBLB	-	NULL	ENSG00000114423		0.522	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	194	0.00	0	G	NM_170662		105421040	105421040	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	silent	137	22.91	41	SNP	0.978	T
CBLB	868	genome.wustl.edu	37	3	105586354	105586354	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:105586354A>C	ENST00000264122.4	-	2	389	c.68T>G	c.(67-69)tTg>tGg	p.L23W	CBLB_ENST00000394027.3_Missense_Mutation_p.L45W|CBLB_ENST00000545639.1_Missense_Mutation_p.L45W|CBLB_ENST00000403724.1_Missense_Mutation_p.L23W|CBLB_ENST00000405772.1_Missense_Mutation_p.L23W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	23					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATAATACCCAAAATTCGACC	0.463			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													120.0	116.0	117.0					3																	105586354		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.68T>G	3.37:g.105586354A>C	ENSP00000264122:p.Leu23Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.L23W	ENST00000264122.4	37	c.68	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535968	0.85812	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	D;D;D;D	0.85258	-1.94;-1.94;-1.94;-1.96	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000005	D	0.87220	0.6123	L	0.27053	0.805	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.994	D	0.88926	0.3369	10	0.87932	D	0	-7.7499	13.6534	0.62325	1.0:0.0:0.0:0.0	.	45;23;23	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	23;45;23;23;45;45;23;23	ENSP00000264122:L23W;ENSP00000377595:L45W;ENSP00000384816:L23W;ENSP00000384938:L23W	ENSP00000264122:L23W	L	-	2	0	CBLB	107069044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.235000	0.89803	1.869000	0.54173	0.455000	0.32223	TTG	CBLB	-	NULL	ENSG00000114423		0.463	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	159	0.00	0	A	NM_170662		105586354	105586354	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	C
CBLC	23624	genome.wustl.edu	37	19	45285709	45285709	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:45285709T>C	ENST00000270279.3	+	4	803	c.740T>C	c.(739-741)gTc>gCc	p.V247A	CBLC_ENST00000341505.4_Missense_Mutation_p.V247A	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	247	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TATGATGAGGTCCAAGAGCGT	0.622			M		AML																																	dbGAP		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													83.0	75.0	78.0					19																	45285709		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.740T>C	19.37:g.45285709T>C	ENSP00000270279:p.Val247Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.V247A	ENST00000270279.3	37	c.740	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	14.43	2.533334	0.45073	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.82081	-1.57;-1.57	4.7	4.7	0.59300	Adaptor protein Cbl, PTB domain (1);SH2 motif (2);Adaptor protein Cbl, SH2-like (1);	0.000000	0.49305	D	0.000143	D	0.88808	0.6537	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.89287	0.3616	10	0.59425	D	0.04	-44.9982	12.4184	0.55506	0.0:0.0:0.0:1.0	.	247;247	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	A	247	ENSP00000270279:V247A;ENSP00000340250:V247A	ENSP00000270279:V247A	V	+	2	0	CBLC	49977549	1.000000	0.71417	0.480000	0.27341	0.022000	0.10575	7.449000	0.80643	2.103000	0.63969	0.459000	0.35465	GTC	CBLC	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000142273		0.622	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	65	0.00	0	T	NM_012116		45285709	45285709	+1	no_errors	ENST00000270279	ensembl	human	known	69_37n	missense	54	12.31	8	SNP	0.999	C
CBS	875	genome.wustl.edu	37	21	44488638	44488638	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:44488638G>A	ENST00000398165.3	-	4	556	c.297C>T	c.(295-297)ttC>ttT	p.F99F	CBS_ENST00000470912.1_5'UTR|CBS_ENST00000359624.3_Silent_p.F99F|CBS_ENST00000398158.1_Silent_p.F99F|CBS_ENST00000352178.5_Silent_p.F99F|CBS_ENST00000544202.1_Silent_p.F11F|CBS_ENST00000398168.1_Silent_p.F99F	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	99					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	ACTTCAGGCCGAACTTCTTCC	0.547																																						dbGAP											0													102.0	98.0	100.0					21																	44488638		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.297C>T	21.37:g.44488638G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	pfam_PyrdxlP-dep_enz_bsu,pfam_Cysta_beta_synth_core,superfamily_PyrdxlP-dep_enz_bsu,smart_Cysta_beta_synth_core,tigrfam_Cysta_beta_synth	p.F99	ENST00000398165.3	37	c.297	CCDS13693.1	21																																																																																			CBS	-	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Cysta_beta_synth	ENSG00000160200		0.547	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CBS	HGNC	protein_coding	OTTHUMT00000195525.1	63	0.00	0	G	NM_000071		44488638	44488638	-1	no_errors	ENST00000398168	ensembl	human	known	69_37n	silent	26	27.78	10	SNP	0.047	A
CBX8	57332	genome.wustl.edu	37	17	77768443	77768443	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:77768443C>A	ENST00000269385.4	-	5	1278	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	387					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTCATCTTTTCTCTTTAAAAA	0.498																																						dbGAP											0													159.0	175.0	170.0					17																	77768443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1161G>T	17.37:g.77768443C>A	ENSP00000269385:p.Glu387Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.E387D	ENST00000269385.4	37	c.1161	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	c	11.45	1.643081	0.29246	.	.	ENSG00000141570	ENST00000269385	T	0.50277	0.75	5.15	2.0	0.26442	.	0.354382	0.26887	N	0.021990	T	0.33030	0.0849	N	0.08118	0	0.36176	D	0.8491	D	0.60575	0.988	P	0.51615	0.675	T	0.31724	-0.9933	10	0.31617	T	0.26	-25.0956	9.3929	0.38383	0.0:0.7079:0.0:0.2921	.	387	Q9HC52	CBX8_HUMAN	D	387	ENSP00000269385:E387D	ENSP00000269385:E387D	E	-	3	2	CBX8	75383038	0.841000	0.29509	1.000000	0.80357	0.995000	0.86356	-0.057000	0.11768	0.662000	0.31006	0.537000	0.68136	GAG	CBX8	-	NULL	ENSG00000141570		0.498	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	50	0.00	0	C	NM_020649		77768443	77768443	-1	no_errors	ENST00000269385	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	1.000	A
CC2D2A	57545	genome.wustl.edu	37	4	15554924	15554924	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:15554924C>T	ENST00000503292.1	+	20	2662	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	CC2D2A_ENST00000424120.1_Missense_Mutation_p.R828W|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R828W|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R779W	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	828					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CATCGGATTTCGGAGGTAATA	0.418																																						dbGAP											0													106.0	101.0	103.0					4																	15554924		1918	4141	6059	-	-	-	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2482C>T	4.37:g.15554924C>T	ENSP00000421809:p.Arg828Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.R828W	ENST00000503292.1	37	c.2482	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887038	0.52014	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.61	2.59	0.31030	.	0.199802	0.45606	N	0.000357	D	0.87099	0.6093	M	0.62723	1.935	0.09310	N	0.999999	D;D	0.71674	0.998;0.998	P;P	0.61397	0.888;0.888	T	0.76610	-0.2896	10	0.36615	T	0.2	.	6.8036	0.23764	0.3033:0.5505:0.0:0.1462	.	828;779	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	W	828;828;779;779;828;779	ENSP00000403465:R828W;ENSP00000398391:R828W;ENSP00000421809:R828W;ENSP00000374303:R779W	ENSP00000374303:R779W	R	+	1	2	CC2D2A	15164022	0.904000	0.30761	0.979000	0.43373	0.668000	0.39293	0.400000	0.20932	0.731000	0.32448	-0.126000	0.14955	CGG	CC2D2A	-	NULL	ENSG00000048342		0.418	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	162	0.00	0	C	NM_001080522		15554924	15554924	+1	no_errors	ENST00000413206	ensembl	human	known	69_37n	missense	107	29.14	44	SNP	0.004	T
CC2D2B	387707	genome.wustl.edu	37	10	97778987	97778987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:97778987G>T	ENST00000344386.3	+	7	714	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.E184*|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	184										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGTAACTCAAGAAACTAATGA	0.318																																						dbGAP											0													118.0	112.0	114.0					10																	97778987		1827	4086	5913	-	-	-	SO:0001587	stop_gained	0			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.550G>T	10.37:g.97778987G>T	ENSP00000343747:p.Glu184*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	NULL	p.E184*	ENST00000344386.3	37	c.550	CCDS41555.1	10	.	.	.	.	.	.	.	.	.	.	G	37	5.987549	0.97173	.	.	ENSG00000188649	ENST00000451649;ENST00000410012;ENST00000344386	.	.	.	6.13	6.13	0.99165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	17.7569	0.88451	0.0:0.0:1.0:0.0	.	.	.	.	X	184	.	ENSP00000343747:E184X	E	+	1	0	CC2D2B	97768977	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.040000	0.76551	2.932000	0.99384	0.644000	0.83932	GAA	CC2D2B	-	NULL	ENSG00000188649		0.318	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CC2D2B	HGNC	protein_coding	OTTHUMT00000049573.3	268	0.00	0	G	NM_001001732		97778987	97778987	+1	no_errors	ENST00000451649	ensembl	human	known	69_37n	nonsense	238	12.82	35	SNP	1.000	T
CCAR1	55749	genome.wustl.edu	37	10	70520782	70520782	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70520782G>T	ENST00000265872.6	+	16	2058	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.E632*|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.E632*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	647	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCTCCGAAAAGAATTAGAAAG	0.403																																						dbGAP											0													46.0	50.0	49.0					10																	70520782		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1939G>T	10.37:g.70520782G>T	ENSP00000265872:p.Glu647*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.E647*	ENST00000265872.6	37	c.1939	CCDS7282.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.172928|9.172928	0.99089|0.99089	.|.	.|.	ENSG00000060339|ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012|ENST00000543706	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79592	.|0.4472	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77797	.|-0.2453	.|3	0.52906|.	T|.	0.07|.	-19.4927|-19.4927	19.6584|19.6584	0.95853|0.95853	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	647;632;632;632;621;452|16	.|.	ENSP00000265872:E647X|.	E|R	+|+	1|2	0|0	CCAR1|CCAR1	70190788|70190788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.218000|9.218000	0.95166|0.95166	2.646000|2.646000	0.89796|0.89796	0.655000|0.655000	0.94253|0.94253	GAA|AGA	CCAR1	-	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	ENSG00000060339		0.403	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	130	0.00	0	G	NM_018237		70520782	70520782	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	nonsense	71	34.26	37	SNP	1.000	T
CCAR1	55749	genome.wustl.edu	37	10	70520795	70520795	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70520795G>A	ENST00000265872.6	+	16	2071	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.R636Q|MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.R636Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	651	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTAGAAAGTCGAGCTCTTAGT	0.413																																						dbGAP											0													56.0	60.0	59.0					10																	70520795		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1952G>A	10.37:g.70520795G>A	ENSP00000265872:p.Arg651Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R651Q	ENST00000265872.6	37	c.1952	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649308	0.87958	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.40476	1.59;1.03;1.03;1.13;1.17;1.12	5.62	5.62	0.85841	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	M	0.92317	3.295	0.58432	D	0.999999	D;D;D	0.71674	0.997;0.998;0.98	D;D;B	0.79108	0.964;0.992;0.372	T	0.80151	-0.1502	10	0.66056	D	0.02	-8.7904	19.6584	0.95853	0.0:0.0:1.0:0.0	.	636;651;625	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	Q	651;636;636;636;625;456	ENSP00000265872:R651Q;ENSP00000441820:R636Q;ENSP00000445254:R636Q;ENSP00000439252:R636Q;ENSP00000438610:R625Q;ENSP00000439642:R456Q	ENSP00000265872:R651Q	R	+	2	0	CCAR1	70190801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.646000	0.89796	0.655000	0.94253	CGA	CCAR1	-	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	ENSG00000060339		0.413	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	159	0.00	0	G	NM_018237		70520795	70520795	+1	no_errors	ENST00000265872	ensembl	human	known	69_37n	missense	101	26.09	36	SNP	1.000	A
CC2D2B	387707	genome.wustl.edu	37	10	97786972	97786972	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:97786972C>T	ENST00000344386.3	+	9	944				ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.I281I|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000371198.2_Nonsense_Mutation_p.R133*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ACCTTAGGATCGAAAGGACTC	0.343																																						dbGAP											0													129.0	104.0	111.0					10																	97786972		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.781-4605C>T	10.37:g.97786972C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R133*	ENST00000344386.3	37	c.397	CCDS41555.1	10	.	.	.	.	.	.	.	.	.	.	C	43	10.461201	0.99409	.	.	ENSG00000188649	ENST00000371198	.	.	.	5.46	-1.22	0.09494	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8059	0.13319	0.1378:0.3286:0.0:0.5336	.	.	.	.	X	133	.	ENSP00000360241:R133X	R	+	1	2	CC2D2B	97776962	0.973000	0.33851	0.997000	0.53966	0.790000	0.44656	-0.021000	0.12504	-0.186000	0.10533	-0.484000	0.04775	CGA	CC2D2B	-	NULL	ENSG00000188649		0.343	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CC2D2B	HGNC	protein_coding	OTTHUMT00000049573.3	322	0.00	0	C	NM_001001732		97786972	97786972	+1	no_errors	ENST00000371198	ensembl	human	known	69_37n	nonsense	196	28.73	79	SNP	0.998	T
ACKR2	1238	genome.wustl.edu	37	3	42906702	42906702	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:42906702C>A	ENST00000422265.1	+	3	883	c.708C>A	c.(706-708)gtC>gtA	p.V236V	ACKR2_ENST00000273145.2_Silent_p.V236V|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.V236V|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	236					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTGGTTGTGTCTTGGTGAGGC	0.542																																						dbGAP											0													115.0	117.0	117.0					3																	42906702		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.708C>A	3.37:g.42906702C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.V236	ENST00000422265.1	37	c.708	CCDS2706.1	3																																																																																			CCBP2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000144648		0.542	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	241	0.00	0	C	NM_001296		42906702	42906702	+1	no_errors	ENST00000273145	ensembl	human	known	69_37n	silent	257	11.07	32	SNP	0.000	A
CCDC102A	92922	genome.wustl.edu	37	16	57546778	57546778	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:57546778G>A	ENST00000258214.2	-	9	1774	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	510										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TGCTGCCTGCGGAGCCTGTGG	0.637																																						dbGAP											0													43.0	42.0	42.0					16																	57546778		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1528C>T	16.37:g.57546778G>A	ENSP00000258214:p.Arg510Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BT74	Missense_Mutation	SNP	NULL	p.R510C	ENST00000258214.2	37	c.1528	CCDS10784.1	16	.	.	.	.	.	.	.	.	.	.	g	19.79	3.893857	0.72639	.	.	ENSG00000135736	ENST00000258214	T	0.78595	-1.19	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000001	D	0.83004	0.5160	L	0.59436	1.845	0.50171	D	0.999855	D	0.89917	1.0	D	0.63703	0.917	D	0.84305	0.0507	10	0.87932	D	0	-19.4261	10.4929	0.44760	0.0944:0.0:0.9056:0.0	.	510	Q96A19	C102A_HUMAN	C	510	ENSP00000258214:R510C	ENSP00000258214:R510C	R	-	1	0	CCDC102A	56104279	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.928000	0.56506	2.349000	0.79799	0.486000	0.48141	CGC	CCDC102A	-	NULL	ENSG00000135736		0.637	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102A	HGNC	protein_coding	OTTHUMT00000257348.1	162	0.00	0	G	NM_033212		57546778	57546778	-1	no_errors	ENST00000258214	ensembl	human	known	69_37n	missense	46	17.86	10	SNP	1.000	A
CCDC108	255101	genome.wustl.edu	37	2	219903692	219903692	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:219903692A>C	ENST00000341552.5	-	3	162	c.79T>G	c.(79-81)Ttc>Gtc	p.F27V	CCDC108_ENST00000441968.1_Missense_Mutation_p.F27V|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000453220.1_Missense_Mutation_p.F27V|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000324264.6_5'UTR	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	27						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATAAGGGGGAAAGAAGAGGCA	0.423																																						dbGAP											0													136.0	134.0	134.0					2																	219903692		2203	4300	6503	-	-	-	SO:0001583	missense	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.79T>G	2.37:g.219903692A>C	ENSP00000340776:p.Phe27Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.F27V	ENST00000341552.5	37	c.79	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	A	9.827	1.187297	0.21870	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05258	3.47;3.47;3.47	3.71	2.53	0.30540	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.18873	N	0.999987	B	0.14012	0.009	B	0.12156	0.007	T	0.40421	-0.9564	9	0.52906	T	0.07	-0.9835	6.4246	0.21762	0.783:0.0:0.0:0.217	.	27	Q6ZU64	CC108_HUMAN	V	27	ENSP00000340776:F27V;ENSP00000413377:F27V;ENSP00000409117:F27V	ENSP00000340776:F27V	F	-	1	0	CCDC108	219611936	0.016000	0.18221	0.005000	0.12908	0.008000	0.06430	2.853000	0.48317	0.755000	0.32990	-0.327000	0.08410	TTC	CCDC108	-	NULL	ENSG00000181378		0.423	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	508	0.00	0	A	NM_194302		219903692	219903692	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	missense	416	27.27	156	SNP	0.006	C
CCDC110	256309	genome.wustl.edu	37	4	186380044	186380044	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:186380044C>T	ENST00000307588.3	-	6	1772	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	CCDC110_ENST00000393540.3_Missense_Mutation_p.R529Q|CCDC110_ENST00000507501.1_5'Flank|CCDC110_ENST00000510617.1_Missense_Mutation_p.R566Q	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	566						nucleus (GO:0005634)		p.R566Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TATACTCATTCGATTATTTTC	0.294																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											102.0	98.0	100.0					4																	186380044		2202	4292	6494	-	-	-	SO:0001583	missense	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1697G>A	4.37:g.186380044C>T	ENSP00000306776:p.Arg566Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.R566Q	ENST00000307588.3	37	c.1697	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284849	0.23392	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28666	1.6;1.6;1.6	5.85	3.14	0.36123	.	0.304554	0.22830	N	0.055109	T	0.37999	0.1024	M	0.69823	2.125	0.09310	N	1	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.51266	0.664;0.664;0.664	T	0.20371	-1.0277	10	0.25751	T	0.34	-0.5759	8.2297	0.31590	0.4042:0.5259:0.0:0.0698	.	566;529;566	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	Q	529;566;566	ENSP00000377172:R529Q;ENSP00000306776:R566Q;ENSP00000427246:R566Q	ENSP00000306776:R566Q	R	-	2	0	CCDC110	186617038	0.000000	0.05858	0.024000	0.17045	0.135000	0.20990	-0.148000	0.10219	0.351000	0.24027	-0.122000	0.15005	CGA	CCDC110	-	NULL	ENSG00000168491		0.294	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	152	0.00	0	C	NM_152775		186380044	186380044	-1	no_errors	ENST00000307588	ensembl	human	known	69_37n	missense	122	15.28	22	SNP	0.000	T
CCDC112	153733	genome.wustl.edu	37	5	114603583	114603583	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:114603583C>A	ENST00000512261.1	-	11	1747	c.1331G>T	c.(1330-1332)aGa>aTa	p.R444I	CCDC112_ENST00000506442.1_Missense_Mutation_p.R412I|CCDC112_ENST00000379611.5_Missense_Mutation_p.R527I|CCDC112_ENST00000395557.4_Missense_Mutation_p.R444I			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	444										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TCATACTCTTCTCTGTATTCC	0.323																																						dbGAP											0													131.0	119.0	123.0					5																	114603583		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1331G>T	5.37:g.114603583C>A	ENSP00000423712:p.Arg444Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.R527I	ENST00000512261.1	37	c.1580	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769715	0.31320	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25912	1.77;1.81;1.81;1.81	5.28	0.793	0.18632	.	1.059720	0.07449	N	0.898602	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.18561	0.022;0.022;0.003	T	0.36720	-0.9736	10	0.72032	D	0.01	-1.4628	0.6188	0.00774	0.1725:0.3135:0.1695:0.3446	.	412;527;444	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	I	527;444;412;444	ENSP00000368931:R527I;ENSP00000423712:R444I;ENSP00000424876:R412I;ENSP00000378925:R444I	ENSP00000368931:R527I	R	-	2	0	CCDC112	114631482	0.983000	0.35010	0.007000	0.13788	0.875000	0.50365	0.695000	0.25527	0.243000	0.21327	-0.175000	0.13238	AGA	CCDC112	-	NULL	ENSG00000164221		0.323	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	293	0.00	0	C	NM_152549		114603583	114603583	-1	no_errors	ENST00000379611	ensembl	human	known	69_37n	missense	192	29.15	79	SNP	0.026	A
CCDC114	93233	genome.wustl.edu	37	19	48800582	48800582	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:48800582C>T	ENST00000315396.7	-	14	2346	c.1664G>A	c.(1663-1665)gGc>gAc	p.G555D		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	555					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCAAGAGAGCCACGGTCTCT	0.637																																						dbGAP											0													51.0	53.0	53.0					19																	48800582		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1664G>A	19.37:g.48800582C>T	ENSP00000318429:p.Gly555Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.G555D	ENST00000315396.7	37	c.1664	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180894	0.38511	.	.	ENSG00000105479	ENST00000315396	T	0.30981	1.51	3.8	1.64	0.23874	.	.	.	.	.	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	B	0.30281	0.275	B	0.30716	0.119	T	0.21177	-1.0253	9	0.62326	D	0.03	-6.1949	4.5205	0.11958	0.1657:0.4013:0.433:0.0	.	555	Q96M63	CC114_HUMAN	D	555	ENSP00000318429:G555D	ENSP00000318429:G555D	G	-	2	0	CCDC114	53492394	0.632000	0.27172	0.011000	0.14972	0.012000	0.07955	1.513000	0.35823	0.879000	0.35944	0.561000	0.74099	GGC	CCDC114	-	NULL	ENSG00000105479		0.637	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	91	0.00	0	C	NM_144577		48800582	48800582	-1	no_errors	ENST00000315396	ensembl	human	known	69_37n	missense	46	29.23	19	SNP	0.068	T
CCDC121	79635	genome.wustl.edu	37	2	27850192	27850192	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27850192C>T	ENST00000324364.3	-	2	655	c.475G>A	c.(475-477)Gag>Aag	p.E159K	GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000515877.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000424214.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|CCDC121_ENST00000394775.3_Missense_Mutation_p.E321K|GPN1_ENST00000458167.2_5'Flank	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	159										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTGTCTGGCTCGCTCAGTTGT	0.478																																						dbGAP											0													80.0	83.0	82.0					2																	27850192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.475G>A	2.37:g.27850192C>T	ENSP00000339087:p.Glu159Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	NULL	p.E321K	ENST00000324364.3	37	c.961	CCDS1759.1	2	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923273	0.52653	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.40225	1.04;1.04	4.93	4.04	0.47022	.	1.383930	0.04502	N	0.381383	T	0.46502	0.1396	L	0.56769	1.78	0.09310	N	1	D	0.60160	0.987	P	0.45343	0.477	T	0.39860	-0.9593	10	0.66056	D	0.02	-25.5915	8.2193	0.31532	0.0:0.893:0.0:0.107	.	159	Q6ZUS5	CC121_HUMAN	K	159;321	ENSP00000339087:E159K;ENSP00000412150:E321K	ENSP00000339087:E159K	E	-	1	0	CCDC121	27703696	0.074000	0.21230	0.707000	0.30419	0.009000	0.06853	1.105000	0.31086	2.282000	0.76494	0.591000	0.81541	GAG	CCDC121	-	NULL	ENSG00000176714		0.478	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC121	HGNC	protein_coding	OTTHUMT00000250215.1	151	0.00	0	C	NM_024584		27850192	27850192	-1	no_errors	ENST00000394775	ensembl	human	known	69_37n	missense	119	14.39	20	SNP	0.031	T
CCDC129	223075	genome.wustl.edu	37	7	31692417	31692417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:31692417G>T	ENST00000407970.3	+	14	3147	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	CCDC129_ENST00000451887.2_Intron|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.E945*|CCDC129_ENST00000319386.3_Nonsense_Mutation_p.E889*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1037										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTGTTGGAGAAAAGGATGC	0.433																																						dbGAP											0													103.0	94.0	97.0					7																	31692417		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.3109G>T	7.37:g.31692417G>T	ENSP00000384416:p.Glu1037*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	NULL	p.E1037*	ENST00000407970.3	37	c.3109	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	38	7.092883	0.98059	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000538406;ENST00000409210	.	.	.	4.28	4.28	0.50868	.	0.185705	0.26331	N	0.024986	.	.	.	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.3247	12.9325	0.58294	0.0:0.0:1.0:0.0	.	.	.	.	X	889;1037;1047;945	.	ENSP00000313062:E889X	E	+	1	0	CCDC129	31658942	0.758000	0.28405	0.067000	0.19924	0.090000	0.18270	1.837000	0.39201	2.322000	0.78497	0.655000	0.94253	GAA	CCDC129	-	NULL	ENSG00000180347		0.433	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	203	0.00	0	G	NM_194300		31692417	31692417	+1	no_errors	ENST00000407970	ensembl	human	known	69_37n	nonsense	114	25.97	40	SNP	0.103	T
CCDC13	152206	genome.wustl.edu	37	3	42798562	42798562	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:42798562G>T	ENST00000310232.6	-	3	449	c.366C>A	c.(364-366)ttC>ttA	p.F122L	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	122										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCTGTGAAGGCAAATC	0.478																																						dbGAP											0													213.0	219.0	217.0					3																	42798562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.366C>A	3.37:g.42798562G>T	ENSP00000309836:p.Phe122Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin	p.F122L	ENST00000310232.6	37	c.366	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070993	0.07228	.	.	ENSG00000244607	ENST00000310232	T	0.16196	2.36	5.37	3.58	0.41010	.	0.166710	0.49916	D	0.000122	T	0.07234	0.0183	N	0.20445	0.575	0.80722	D	1	B;B;B	0.30563	0.285;0.285;0.183	B;B;B	0.30943	0.122;0.122;0.032	T	0.24048	-1.0171	10	0.02654	T	1	.	2.6645	0.05037	0.1631:0.144:0.5446:0.1483	.	122;122;122	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	L	122	ENSP00000309836:F122L	ENSP00000309836:F122L	F	-	3	2	CCDC13	42773566	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.869000	0.27996	0.652000	0.30806	0.591000	0.81541	TTC	CCDC13	-	NULL	ENSG00000244607		0.478	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	1214	0.00	0	G	NM_144719		42798562	42798562	-1	no_errors	ENST00000310232	ensembl	human	known	69_37n	missense	980	12.95	146	SNP	0.999	T
CCDC132	55610	genome.wustl.edu	37	7	92869225	92869225	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:92869225A>C	ENST00000305866.5	+	2	208	c.80A>C	c.(79-81)gAg>gCg	p.E27A	CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.E27A|CCDC132_ENST00000251739.5_Missense_Mutation_p.E27A|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	27						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTGCCATAGAGAGTCTCCGG	0.378																																						dbGAP											0													100.0	107.0	104.0					7																	92869225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.80A>C	7.37:g.92869225A>C	ENSP00000307666:p.Glu27Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.E27A	ENST00000305866.5	37	c.80	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792622	0.70452	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000458530;ENST00000535481	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	L	0.27053	0.805	0.80722	D	1	P;D;B	0.63880	0.458;0.993;0.367	P;D;B	0.68192	0.678;0.956;0.157	T	0.50890	-0.8774	9	0.32370	T	0.25	-0.434	10.3206	0.43764	1.0:0.0:0.0:0.0	.	27;27;27	B4DS55;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	A	27	.	ENSP00000251739:E27A	E	+	2	0	CCDC132	92707161	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.967000	0.56802	2.213000	0.71641	0.397000	0.26171	GAG	CCDC132	-	NULL	ENSG00000004766		0.378	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	339	0.00	0	A	NM_017667		92869225	92869225	+1	no_errors	ENST00000305866	ensembl	human	known	69_37n	missense	185	26.48	67	SNP	1.000	C
CCDC132	55610	genome.wustl.edu	37	7	92978029	92978029	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:92978029C>T	ENST00000305866.5	+	24	2342	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	CCDC132_ENST00000541136.1_Silent_p.F549F|CCDC132_ENST00000535481.1_Silent_p.F458F|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000544910.1_Silent_p.F708F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	738						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTAGGGTATTCTTGGCTGAAC	0.403																																						dbGAP											0													147.0	140.0	142.0					7																	92978029		1882	4111	5993	-	-	-	SO:0001819	synonymous_variant	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2214C>T	7.37:g.92978029C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.F738	ENST00000305866.5	37	c.2214	CCDS43617.1	7																																																																																			CCDC132	-	pfam_DUF2451_C	ENSG00000004766		0.403	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	207	0.00	0	C	NM_017667		92978029	92978029	+1	no_errors	ENST00000305866	ensembl	human	known	69_37n	silent	155	16.22	30	SNP	1.000	T
CCDC138	165055	genome.wustl.edu	37	2	109432533	109432533	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:109432533G>T	ENST00000295124.4	+	10	1238	c.1178G>T	c.(1177-1179)aGa>aTa	p.R393I	CCDC138_ENST00000412964.2_Missense_Mutation_p.R393I	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	393										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GCTTCCCAGAGAAATGATATT	0.353																																						dbGAP											0													84.0	85.0	85.0					2																	109432533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1178G>T	2.37:g.109432533G>T	ENSP00000295124:p.Arg393Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Nonsense_Mutation	SNP	NULL	p.E290*	ENST00000295124.4	37	c.868	CCDS2080.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.011052|3.011052	0.54361|0.54361	.|.	.|.	ENSG00000163006|ENSG00000163006	ENST00000456512|ENST00000412964;ENST00000295124	.|T;T	.|0.34072	.|1.38;1.39	6.07|6.07	3.35|3.35	0.38373|0.38373	.|.	.|0.467978	.|0.24657	.|N	.|0.036672	.|T	.|0.45816	.|0.1361	M|M	0.65975|0.65975	2.015|2.015	0.36354|0.36354	D|D	0.860306|0.860306	.|D;D	.|0.59357	.|0.985;0.958	.|P;P	.|0.58391	.|0.838;0.66	.|T	.|0.52094	.|-0.8621	.|10	.|0.37606	.|T	.|0.19	-5.282|-5.282	4.6652|4.6652	0.12662|0.12662	0.2942:0.1509:0.5549:0.0|0.2942:0.1509:0.5549:0.0	.|.	.|393;393	.|Q96M89-2;Q96M89	.|.;CC138_HUMAN	X|I	290|393	.|ENSP00000411800:R393I;ENSP00000295124:R393I	.|ENSP00000295124:R393I	E|R	+|+	1|2	0|0	CCDC138|CCDC138	108798965|108798965	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.530000|0.530000	0.34684|0.34684	0.091000|0.091000	0.15046|0.15046	0.922000|0.922000	0.37019|0.37019	-0.122000|-0.122000	0.15005|0.15005	GAA|AGA	CCDC138	-	NULL	ENSG00000163006		0.353	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC138	HGNC	protein_coding	OTTHUMT00000253593.1	268	0.00	0	G	NM_144978		109432533	109432533	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000456512	ensembl	human	novel	69_37n	nonsense	215	14.00	35	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16638064	16638064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:16638064G>T	ENST00000360524.8	+	12	2555	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E827*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E547*|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E827*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E827*	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	827																	GTTGCAGGAAGAAATTGCCTT	0.333																																						dbGAP											0													18.0	16.0	17.0					17																	16638064		1822	4075	5897	-	-	-	SO:0001587	stop_gained	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2479G>T	17.37:g.16638064G>T	ENSP00000353717:p.Glu827*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Nonsense_Mutation	SNP	pfam_DUF3496	p.E827*	ENST00000360524.8	37	c.2479	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.180805|6.180805	0.97352|0.97352	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009|ENST00000360495;ENST00000328495	.|T	.|0.09538	.|2.97	2.08|2.08	1.02|1.02	0.19986|0.19986	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10895	.|0.0266	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26916	.|-1.0089	.|4	0.87932|.	D|.	0|.	.|.	8.1489|8.1489	0.31128|0.31128	0.0:0.2525:0.7474:0.0|0.0:0.2525:0.7474:0.0	.|.	.|.	.|.	.|.	X|N	827;827;827;547|722;310	.|ENSP00000353685:K722N	ENSP00000353717:E827X|.	E|K	+|+	1|3	0|2	CCDC144A|CCDC144A	16578789|16578789	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.365000|0.365000	0.29674|0.29674	3.481000|3.481000	0.53179|0.53179	0.184000|0.184000	0.20083|0.20083	-0.751000|-0.751000	0.03497|0.03497	GAA|AAG	CCDC144A	-	NULL	ENSG00000170160		0.333	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	83	0.00	0	G			16638064	16638064	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	nonsense	38	25.00	13	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16638916	16638916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:16638916G>T	ENST00000360524.8	+	12	3407	c.3331G>T	c.(3331-3333)Gaa>Taa	p.E1111*	CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E1111*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E831*|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.E1111*|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E1111*	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1111																	TCATTTAAAAGAAAGAATGGA	0.313																																						dbGAP											0													1.0	1.0	1.0					17																	16638916		522	1225	1747	-	-	-	SO:0001587	stop_gained	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3331G>T	17.37:g.16638916G>T	ENSP00000353717:p.Glu1111*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60311|Q6ZU57	Nonsense_Mutation	SNP	pfam_DUF3496	p.E1111*	ENST00000360524.8	37	c.3331	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.523858|6.523858	0.97637|0.97637	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009|ENST00000328495	.|.	.|.	.|.	1.95|1.95	1.95|1.95	0.26073|0.26073	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54886	.|0.1886	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65681	.|-0.6109	.|4	0.62326|0.51188	D|T	0.03|0.08	.|.	9.5422|9.5422	0.39260|0.39260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	1111;1111;1111;831|594	.|.	ENSP00000353717:E1111X|ENSP00000333750:K594N	E|K	+|+	1|3	0|2	CCDC144A|CCDC144A	16579641|16579641	1.000000|1.000000	0.71417|0.71417	0.413000|0.413000	0.26509|0.26509	0.041000|0.041000	0.13682|0.13682	5.364000|5.364000	0.66110|0.66110	1.081000|1.081000	0.41110|0.41110	0.184000|0.184000	0.17185|0.17185	GAA|AAG	CCDC144A	-	NULL	ENSG00000170160		0.313	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	16	0.00	0	G			16638916	16638916	+1	no_errors	ENST00000360524	ensembl	human	known	69_37n	nonsense	8	27.27	3	SNP	0.997	T
CCDC146	57639	genome.wustl.edu	37	7	76922411	76922411	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:76922411C>A	ENST00000285871.4	+	18	2685	c.2558C>A	c.(2557-2559)tCc>tAc	p.S853Y	CCDC146_ENST00000431197.1_Missense_Mutation_p.S567Y|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	853										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACTTGCAATTCCAGGATAGAA	0.433																																						dbGAP											0													107.0	106.0	106.0					7																	76922411		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2558C>A	7.37:g.76922411C>A	ENSP00000285871:p.Ser853Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8X6|Q9P223	Missense_Mutation	SNP	NULL	p.S853Y	ENST00000285871.4	37	c.2558	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749706	0.30955	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.43294	0.95;0.95	5.65	3.64	0.41730	.	0.786058	0.12336	N	0.477905	T	0.49270	0.1547	L	0.51422	1.61	0.09310	N	1	D;D	0.61080	0.969;0.989	P;P	0.49953	0.563;0.627	T	0.45527	-0.9255	10	0.59425	D	0.04	-0.5712	15.8907	0.79296	0.2577:0.7422:0.0:0.0	.	567;853	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	Y	853;567	ENSP00000285871:S853Y;ENSP00000413885:S567Y	ENSP00000285871:S853Y	S	+	2	0	AC007000.1	76760347	0.783000	0.28701	0.972000	0.41901	0.169000	0.22640	1.298000	0.33412	1.364000	0.46038	-0.319000	0.08680	TCC	CCDC146	-	NULL	ENSG00000135205		0.433	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	372	0.27	1	C	NM_020879		76922411	76922411	+1	no_errors	ENST00000285871	ensembl	human	known	69_37n	missense	254	15.05	45	SNP	0.230	A
CFAP58	159686	genome.wustl.edu	37	10	106160477	106160477	+	Missense_Mutation	SNP	C	C	T	rs377507907	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:106160477C>T	ENST00000369704.3	+	13	1989	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		619						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TCAGCTTGTTCGGCGCAATGA	0.498													C|||	6	0.00119808	0.0	0.0	5008	,	,		19071	0.006		0.0	False		,,,				2504	0.0					dbGAP											0													163.0	136.0	145.0					10																	106160477		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.1855C>T	10.37:g.106160477C>T	ENSP00000358718:p.Arg619Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.R619W	ENST00000369704.3	37	c.1855	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300384	0.81136	.	.	ENSG00000120051	ENST00000369704	T	0.43688	0.94	5.62	4.63	0.57726	.	0.255153	0.40908	D	0.000993	T	0.69593	0.3128	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75736	-0.3213	10	0.72032	D	0.01	-19.435	17.2277	0.86975	0.1344:0.8656:0.0:0.0	.	619	Q5T655	CC147_HUMAN	W	619	ENSP00000358718:R619W	ENSP00000358718:R619W	R	+	1	2	CCDC147	106150467	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.194000	0.51005	2.647000	0.89833	0.655000	0.94253	CGG	CCDC147	-	NULL	ENSG00000120051		0.498	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	252	0.00	0	C			106160477	106160477	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	178	30.35	78	SNP	0.964	T
CCDC148	130940	genome.wustl.edu	37	2	159028732	159028732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:159028732G>A	ENST00000283233.5	-	14	1982	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	CCDC148_ENST00000409187.1_Nonsense_Mutation_p.R566*|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	557								p.R557*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCAGCTTCTCGAAGTGCTAAC	0.308																																						dbGAP											1	Substitution - Nonsense(1)	skin(1)											56.0	56.0	56.0					2																	159028732		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1669C>T	2.37:g.159028732G>A	ENSP00000283233:p.Arg557*	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	NULL	p.R557*	ENST00000283233.5	37	c.1669	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.014977	0.98002	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.78	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0706	12.697	0.57010	0.0:0.0:0.5681:0.4319	.	.	.	.	X	557;566	.	ENSP00000283233:R557X	R	-	1	2	CCDC148	158736978	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	2.662000	0.46766	0.706000	0.31912	0.555000	0.69702	CGA	CCDC148	-	NULL	ENSG00000153237		0.308	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	323	0.31	1	G	NM_138803		159028732	159028732	-1	no_errors	ENST00000283233	ensembl	human	known	69_37n	nonsense	153	12.07	21	SNP	0.998	A
CCDC150	284992	genome.wustl.edu	37	2	197521737	197521737	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:197521737G>T	ENST00000389175.4	+	4	588	c.453G>T	c.(451-453)aaG>aaT	p.K151N	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.K48N	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	151										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGACCTGAAGCTGTTGCATC	0.478																																						dbGAP											0													75.0	75.0	75.0					2																	197521737		1960	4147	6107	-	-	-	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.453G>T	2.37:g.197521737G>T	ENSP00000373827:p.Lys151Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.K151N	ENST00000389175.4	37	c.453	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285225	0.23478	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.32988	1.43;1.43	4.78	3.9	0.45041	.	0.073247	0.48286	D	0.000200	T	0.26011	0.0634	L	0.51422	1.61	0.80722	D	1	B;B	0.27882	0.192;0.021	B;B	0.23018	0.043;0.013	T	0.08534	-1.0717	10	0.59425	D	0.04	-15.3211	8.7466	0.34589	0.1754:0.0:0.8246:0.0	.	151;151	Q8NCX0;F5H6M2	CC150_HUMAN;.	N	151;151;48	ENSP00000373827:K151N;ENSP00000441149:K48N	ENSP00000373827:K151N	K	+	3	2	CCDC150	197229982	0.639000	0.27234	1.000000	0.80357	0.267000	0.26476	0.458000	0.21892	1.252000	0.44001	-0.126000	0.14955	AAG	CCDC150	-	NULL	ENSG00000144395		0.478	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	234	0.00	0	G	NM_001080539		197521737	197521737	+1	no_errors	ENST00000389175	ensembl	human	known	69_37n	missense	164	13.68	26	SNP	1.000	T
CCDC150	284992	genome.wustl.edu	37	2	197583326	197583326	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:197583326G>A	ENST00000389175.4	+	18	2101	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	CCDC150_ENST00000272831.7_Missense_Mutation_p.E303K|CCDC150_ENST00000409270.1_Missense_Mutation_p.E143K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	656										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGAAGACCTCGAGGCTGTGGA	0.458																																						dbGAP											0													99.0	104.0	102.0					2																	197583326		1953	4155	6108	-	-	-	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1966G>A	2.37:g.197583326G>A	ENSP00000373827:p.Glu656Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E656K	ENST00000389175.4	37	c.1966	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	8.801	0.932868	0.18131	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T;T;T	0.48201	0.82;0.82;0.82	4.71	3.82	0.43975	.	0.278623	0.29956	N	0.010768	T	0.34890	0.0913	L	0.38531	1.155	0.29987	N	0.817179	B;B;B	0.27791	0.104;0.189;0.035	B;B;B	0.23419	0.029;0.046;0.012	T	0.31916	-0.9926	10	0.41790	T	0.15	-5.6184	9.4	0.38426	0.0998:0.0:0.9002:0.0	.	73;303;656	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	K	303;656;143	ENSP00000272831:E303K;ENSP00000373827:E656K;ENSP00000387257:E143K	ENSP00000272831:E303K	E	+	1	0	CCDC150	197291571	0.988000	0.35896	0.037000	0.18230	0.009000	0.06853	2.380000	0.44327	1.309000	0.44985	0.655000	0.94253	GAG	CCDC150	-	NULL	ENSG00000144395		0.458	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	308	0.00	0	G	NM_001080539		197583326	197583326	+1	no_errors	ENST00000389175	ensembl	human	known	69_37n	missense	228	24.00	72	SNP	0.111	A
CCDC158	339965	genome.wustl.edu	37	4	77300511	77300511	+	Missense_Mutation	SNP	C	C	T	rs539971875		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:77300511C>T	ENST00000388914.3	-	8	1113	c.961G>A	c.(961-963)Gat>Aat	p.D321N	CCDC158_ENST00000434846.2_Missense_Mutation_p.D321N	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	321										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTCCAGATCGCTGAGCTGA	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14135	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													158.0	144.0	148.0					4																	77300511		1887	4115	6002	-	-	-	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.961G>A	4.37:g.77300511C>T	ENSP00000373566:p.Asp321Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.D321N	ENST00000388914.3	37	c.961	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615459	0.66672	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.78126	-1.15;1.39	5.35	5.35	0.76521	.	0.371075	0.22735	N	0.056264	T	0.61502	0.2352	N	0.08118	0	0.34522	D	0.708274	P;B	0.51791	0.948;0.373	B;B	0.42771	0.397;0.106	T	0.74569	-0.3622	10	0.59425	D	0.04	.	12.3603	0.55199	0.0:0.8304:0.1696:0.0	.	321;321	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	N	321	ENSP00000373566:D321N;ENSP00000401742:D321N	ENSP00000316815:D321N	D	-	1	0	CCDC158	77519535	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.750000	0.55157	2.500000	0.84329	0.650000	0.86243	GAT	CCDC158	-	NULL	ENSG00000163749		0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	432	0.00	0	C	NM_001042784		77300511	77300511	-1	no_errors	ENST00000388914	ensembl	human	known	69_37n	missense	286	12.54	41	SNP	1.000	T
CCDC160	347475	genome.wustl.edu	37	X	133379011	133379011	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:133379011T>A	ENST00000517294.1	+	3	564	c.181T>A	c.(181-183)Ttt>Att	p.F61I	CCDC160_ENST00000370809.4_Missense_Mutation_p.F61I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	61										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AGAAAGTAAATTTAAGAGGAA	0.308																																						dbGAP											0													19.0	17.0	17.0					X																	133379011		1788	4044	5832	-	-	-	SO:0001583	missense	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.181T>A	X.37:g.133379011T>A	ENSP00000427951:p.Phe61Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.F61I	ENST00000517294.1	37	c.181	CCDS48171.1	X	.	.	.	.	.	.	.	.	.	.	T	5.686	0.311165	0.10789	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.31	0.178	0.15058	.	0.532223	0.17194	N	0.183366	T	0.19725	0.0474	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.17433	0.018	T	0.14035	-1.0487	9	0.45353	T	0.12	0.1947	1.3192	0.02113	0.1437:0.1735:0.1533:0.5296	.	61	A6NGH7	CC160_HUMAN	I	61	.	ENSP00000359845:F61I	F	+	1	0	CCDC160	133206677	0.031000	0.19500	0.001000	0.08648	0.008000	0.06430	0.276000	0.18716	-0.026000	0.13895	0.481000	0.45027	TTT	CCDC160	-	NULL	ENSG00000203952		0.308	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	107	0.00	0	T	NM_001101357		133379011	133379011	+1	no_errors	ENST00000370809	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	0.005	A
CCDC168	643677	genome.wustl.edu	37	13	103383332	103383332	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103383332G>T	ENST00000322527.2	-	1	5827	c.5828C>A	c.(5827-5829)tCt>tAt	p.S1943Y		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1943																	CATTGCATAAGATTCTCTTAC	0.368																																						dbGAP											0													91.0	76.0	80.0					13																	103383332		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.5828C>A	13.37:g.103383332G>T	ENSP00000320232:p.Ser1943Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N800	Missense_Mutation	SNP	NULL	p.S1943Y	ENST00000322527.2	37	c.5828		13	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275324	0.40194	.	.	ENSG00000175820	ENST00000322527	T	0.10288	2.89	5.53	5.53	0.82687	.	.	.	.	.	T	0.21062	0.0507	N	0.24115	0.695	0.32497	N	0.539373	D	0.89917	1.0	D	0.79108	0.992	T	0.06391	-1.0829	9	0.66056	D	0.02	.	14.9772	0.71283	0.0:0.0:1.0:0.0	.	1943	Q8NDH2	CC168_HUMAN	Y	1943	ENSP00000320232:S1943Y	ENSP00000320232:S1943Y	S	-	2	0	CCDC168	102181333	0.998000	0.40836	0.407000	0.26434	0.024000	0.10985	4.379000	0.59575	2.603000	0.88011	0.655000	0.94253	TCT	CCDC168	-	NULL	ENSG00000175820		0.368	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		358	0.00	0	G	NM_001146197		103383332	103383332	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	missense	166	14.43	28	SNP	0.957	T
CCDC168	643677	genome.wustl.edu	37	13	103385654	103385654	+	Missense_Mutation	SNP	G	G	T	rs576237706	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103385654G>T	ENST00000322527.2	-	1	3505	c.3506C>A	c.(3505-3507)tCt>tAt	p.S1169Y		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1169																	CACTTTGGGAGAAAACATTTT	0.373													G|||	10	0.00199681	0.0	0.0014	5008	,	,		20667	0.0		0.0	False		,,,				2504	0.0092					dbGAP											0													170.0	138.0	147.0					13																	103385654		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3506C>A	13.37:g.103385654G>T	ENSP00000320232:p.Ser1169Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N800	Missense_Mutation	SNP	NULL	p.S1169Y	ENST00000322527.2	37	c.3506		13	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229764	0.58777	.	.	ENSG00000175820	ENST00000322527	T	0.04156	3.69	3.0	1.13	0.20643	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.39840	-0.9594	9	0.66056	D	0.02	.	4.0575	0.09823	0.1428:0.2463:0.6109:0.0	.	1169	Q8NDH2	CC168_HUMAN	Y	1169	ENSP00000320232:S1169Y	ENSP00000320232:S1169Y	S	-	2	0	CCDC168	102183655	0.013000	0.17824	0.001000	0.08648	0.888000	0.51559	1.330000	0.33781	0.261000	0.21753	0.508000	0.49915	TCT	CCDC168	-	NULL	ENSG00000175820		0.373	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		814	0.12	1	G	NM_001146197		103385654	103385654	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	missense	356	20.54	92	SNP	0.001	T
CCDC168	643677	genome.wustl.edu	37	13	103386574	103386574	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103386574T>C	ENST00000322527.2	-	1	2585	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	862																	TTTCTTTCTGTGACCTATGTG	0.413																																						dbGAP											0													98.0	75.0	82.0					13																	103386574		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.2586A>G	13.37:g.103386574T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N800	Silent	SNP	NULL	p.S862	ENST00000322527.2	37	c.2586		13																																																																																			CCDC168	-	NULL	ENSG00000175820		0.413	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		383	0.00	0	T	NM_001146197		103386574	103386574	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	silent	185	18.06	41	SNP	0.000	C
CCDC171	203238	genome.wustl.edu	37	9	15779072	15779072	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:15779072G>A	ENST00000380701.3	+	20	3333	c.3005G>A	c.(3004-3006)cGa>cAa	p.R1002Q	RNU6-14P_ENST00000384630.1_RNA|CCDC171_ENST00000297641.3_Missense_Mutation_p.R1002Q	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1002																	GAATTCAAACGAAGTGTGAAT	0.408																																						dbGAP											0													62.0	63.0	63.0					9																	15779072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3005G>A	9.37:g.15779072G>A	ENSP00000370077:p.Arg1002Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.R1002Q	ENST00000380701.3	37	c.3005	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.01|15.01	2.707016|2.707016	0.48412|0.48412	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575;ENST00000432954|ENST00000297641;ENST00000380689;ENST00000380701	.|T;T	.|0.14266	.|2.52;2.53	5.32|5.32	2.44|2.44	0.29823|0.29823	.|.	.|0.140452	.|0.46758	.|D	.|0.000271	T|T	0.05410|0.05410	0.0143|0.0143	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999995|0.999995	.|B;B;B	.|0.18166	.|0.017;0.026;0.017	.|B;B;B	.|0.12837	.|0.008;0.005;0.008	T|T	0.37979|0.37979	-0.9682|-0.9682	5|10	.|0.19590	.|T	.|0.45	-2.8175|-2.8175	5.6137|5.6137	0.17420|0.17420	0.2243:0.0:0.6207:0.1551|0.2243:0.0:0.6207:0.1551	.|.	.|1010;269;1002	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	K|Q	242;56|1002;269;1002	.|ENSP00000297641:R1002Q;ENSP00000370077:R1002Q	.|ENSP00000297641:R1002Q	E|R	+|+	1|2	0|0	C9orf93|C9orf93	15769072|15769072	0.930000|0.930000	0.31532|0.31532	0.829000|0.829000	0.32907|0.32907	0.996000|0.996000	0.88848|0.88848	1.887000|1.887000	0.39698|0.39698	1.226000|1.226000	0.43582|0.43582	0.563000|0.563000	0.77884|0.77884	GAA|CGA	CCDC171	-	NULL	ENSG00000164989		0.408	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	162	0.00	0	G	NM_173550		15779072	15779072	+1	no_errors	ENST00000380701	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	0.213	A
CCDC173	129881	genome.wustl.edu	37	2	170510653	170510653	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170510653C>A	ENST00000447353.1	-	6	996	c.891G>T	c.(889-891)atG>atT	p.M297I		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	297																	TGAATTTTCTCATCTTTTCAT	0.333																																						dbGAP											0													117.0	102.0	107.0					2																	170510653		1813	4089	5902	-	-	-	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.891G>T	2.37:g.170510653C>A	ENSP00000391504:p.Met297Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJF6	Missense_Mutation	SNP	NULL	p.M297I	ENST00000447353.1	37	c.891	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	C	1.480	-0.557589	0.03967	.	.	ENSG00000154479	ENST00000447353	T	0.04758	3.56	4.95	-0.192	0.13248	.	3.290510	0.00695	N	0.000743	T	0.01061	0.0035	N	0.00112	-2.095	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.48364	-0.9042	10	0.02654	T	1	.	4.6076	0.12385	0.4442:0.302:0.2538:0.0	.	297	Q0VFZ6	CB077_HUMAN	I	297	ENSP00000391504:M297I	ENSP00000391504:M297I	M	-	3	0	C2orf77	170218899	0.975000	0.34042	0.982000	0.44146	0.988000	0.76386	0.006000	0.13152	-0.196000	0.10366	-0.357000	0.07601	ATG	CCDC173	-	NULL	ENSG00000154479		0.333	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	757	0.13	1	C	NM_001085447		170510653	170510653	-1	no_errors	ENST00000447353	ensembl	human	known	69_37n	missense	463	26.35	166	SNP	0.993	A
CCDC18	343099	genome.wustl.edu	37	1	93648932	93648932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:93648932C>A	ENST00000343253.7	+	2	516	c.14C>A	c.(13-15)tCa>tAa	p.S5*	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.S5*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.S123*|CCDC18_ENST00000338949.4_5'UTR|TMED5_ENST00000370282.3_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	5										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAATCTAGTTCATCAGACTAC	0.313																																						dbGAP											0													78.0	75.0	76.0					1																	93648932		1805	4059	5864	-	-	-	SO:0001587	stop_gained	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.14C>A	1.37:g.93648932C>A	ENSP00000343377:p.Ser5*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU17	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S123*	ENST00000343253.7	37	c.368		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.2|22.2|22.2	4.257100|4.257100|4.257100	0.80246|0.80246|0.80246	.|.|.	.|.|.	ENSG00000122483|ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.|.	.|.|.	.|.|.	5.29|5.29|5.29	5.29|5.29|5.29	0.74685|0.74685|0.74685	.|.|.	.|.|0.403549	.|.|0.20408	.|.|N	.|.|0.092920	T|T|.	0.17831|0.17831|.	0.0428|0.0428|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.06463|0.06463|.	-1.0825|-1.0825|.	4|4|.	.|.|0.02654	.|.|T	.|.|1	.|.|.	11.8874|11.8874|11.8874	0.52610|0.52610|0.52610	0.0:0.9166:0.0:0.0834|0.0:0.9166:0.0:0.0834|0.0:0.9166:0.0:0.0834	.|.|.	.|.|.	.|.|.	.|.|.	L|N|X	51|59|5;5;123	.|.|.	.|.|ENSP00000343377:S5X	F|H|S	+|+|+	3|1|2	2|0|0	CCDC18|CCDC18|CCDC18	93421520|93421520|93421520	0.918000|0.918000|0.918000	0.31147|0.31147|0.31147	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	1.472000|1.472000|1.472000	0.35376|0.35376|0.35376	2.630000|2.630000|2.630000	0.89119|0.89119|0.89119	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	TTC|CAT|TCA	CCDC18	-	NULL	ENSG00000122483		0.313	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1	197	0.00	0	C	NM_206886		93648932	93648932	+1	no_errors	ENST00000557479	ensembl	human	known	69_37n	nonsense	96	12.73	14	SNP	0.990	A
CCDC22	28952	genome.wustl.edu	37	X	49099383	49099383	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:49099383G>A	ENST00000376227.3	+	4	563	c.393G>A	c.(391-393)ggG>ggA	p.G131G	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	131										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GGGCCATTGGGAGCCAAATTC	0.577																																						dbGAP											0													50.0	41.0	44.0					X																	49099383		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.393G>A	X.37:g.49099383G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7G1	Silent	SNP	pfam_DUF812	p.G131	ENST00000376227.3	37	c.393	CCDS14322.1	X																																																																																			CCDC22	-	pfam_DUF812	ENSG00000101997		0.577	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	199	0.00	0	G	NM_014008		49099383	49099383	+1	no_errors	ENST00000376227	ensembl	human	known	69_37n	silent	108	16.92	22	SNP	0.623	A
CCDC25	55246	genome.wustl.edu	37	8	27605731	27605731	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:27605731G>A	ENST00000356537.4	-	7	507	c.414C>T	c.(412-414)gtC>gtT	p.V138V	CCDC25_ENST00000522915.1_Silent_p.V70V|CCDC25_ENST00000539095.1_Silent_p.V70V|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	138						extracellular vesicular exosome (GO:0070062)		p.V138V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGAACCGCTCGACTTTGGTCT	0.393																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											124.0	120.0	121.0					8																	27605731		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.414C>T	8.37:g.27605731G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P663|Q96SI2|Q9NV98	Silent	SNP	pfam_DUF814	p.V138	ENST00000356537.4	37	c.414	CCDS6062.2	8																																																																																			CCDC25	-	NULL	ENSG00000147419		0.393	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC25	HGNC	protein_coding	OTTHUMT00000255224.1	934	0.11	1	G	NM_018246		27605731	27605731	-1	no_errors	ENST00000356537	ensembl	human	known	69_37n	silent	636	28.44	254	SNP	0.033	A
CCDC3	83643	genome.wustl.edu	37	10	13040469	13040469	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:13040469G>T	ENST00000378825.3	-	2	544	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	CCDC3_ENST00000378839.1_Missense_Mutation_p.Q15K	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	140						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			ATGGCATCTTGGAAATTGACT	0.458																																						dbGAP											0													126.0	113.0	118.0					10																	13040469		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.418C>A	10.37:g.13040469G>T	ENSP00000368102:p.Gln140Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.Q140K	ENST00000378825.3	37	c.418	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713877	0.89112	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	M	0.77103	2.36	0.58432	D	0.999996	D	0.58268	0.982	D	0.70227	0.968	T	0.82135	-0.0607	9	0.66056	D	0.02	-22.5156	17.7904	0.88551	0.0:0.0:1.0:0.0	.	140	Q9BQI4	CCDC3_HUMAN	K	15;140	.	ENSP00000368102:Q140K	Q	-	1	0	CCDC3	13080475	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.397000	0.97276	2.433000	0.82419	0.462000	0.41574	CAA	CCDC3	-	NULL	ENSG00000151468		0.458	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	143	0.00	0	G	NM_031455		13040469	13040469	-1	no_errors	ENST00000378825	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	T
CCDC34	91057	genome.wustl.edu	37	11	27371947	27371947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:27371947C>A	ENST00000328697.6	-	3	1211	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	CCDC34_ENST00000317945.6_Nonsense_Mutation_p.E180*|CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	180										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TTTTCACGTTCTTCCATTTCT	0.318																																						dbGAP											0													170.0	151.0	157.0					11																	27371947		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.538G>T	11.37:g.27371947C>A	ENSP00000330240:p.Glu180*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Nonsense_Mutation	SNP	NULL	p.E180*	ENST00000328697.6	37	c.538	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	C	44	10.603332	0.99435	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	.	.	.	5.74	5.74	0.90152	.	0.066521	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.0482	19.1263	0.93386	0.0:1.0:0.0:0.0	.	.	.	.	X	180	.	ENSP00000321563:E180X	E	-	1	0	CCDC34	27328523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.890000	0.99128	0.586000	0.80456	GAA	CCDC34	-	NULL	ENSG00000109881		0.318	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	737	0.00	0	C	NM_030771		27371947	27371947	-1	no_errors	ENST00000328697	ensembl	human	known	69_37n	nonsense	616	24.88	204	SNP	1.000	A
CCDC38	120935	genome.wustl.edu	37	12	96282244	96282244	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:96282244C>A	ENST00000344280.3	-	10	1469	c.912G>T	c.(910-912)aaG>aaT	p.K304N	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	304										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTTGATTTCTTTTTCTCTG	0.403																																						dbGAP											0													220.0	208.0	212.0					12																	96282244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.912G>T	12.37:g.96282244C>A	ENSP00000345470:p.Lys304Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N835	Missense_Mutation	SNP	NULL	p.K304N	ENST00000344280.3	37	c.912	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	4.555	0.103113	0.08731	.	.	ENSG00000165972	ENST00000344280	T	0.32272	1.46	4.01	-0.112	0.13572	.	25.463200	0.00166	N	0.000000	T	0.28896	0.0717	L	0.59436	1.845	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.08006	-1.0743	10	0.18276	T	0.48	4.8877	4.7662	0.13134	0.0:0.4577:0.34:0.2023	.	304	Q502W7	CCD38_HUMAN	N	304	ENSP00000345470:K304N	ENSP00000345470:K304N	K	-	3	2	CCDC38	94806375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.085000	0.11250	-0.131000	0.11578	-0.266000	0.10368	AAG	CCDC38	-	NULL	ENSG00000165972		0.403	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	622	0.00	0	C	NM_182496		96282244	96282244	-1	no_errors	ENST00000344280	ensembl	human	known	69_37n	missense	474	10.06	53	SNP	0.001	A
CCDC40	55036	genome.wustl.edu	37	17	78032435	78032435	+	Silent	SNP	C	C	T	rs375163840		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78032435C>T	ENST00000397545.4	+	8	1329	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	CCDC40_ENST00000269318.5_Silent_p.I434I|CCDC40_ENST00000374876.4_Silent_p.I434I|CCDC40_ENST00000374877.3_Silent_p.I434I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	434					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGCAGAAATCGAGAAGAAAA	0.507																																						dbGAP											0													59.0	62.0	61.0					17																	78032435		2024	4183	6207	-	-	-	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1302C>T	17.37:g.78032435C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.I434	ENST00000397545.4	37	c.1302	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.507	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	176	0.00	0	C	XM_371082		78032435	78032435	+1	no_errors	ENST00000397545	ensembl	human	known	69_37n	silent	78	31.03	36	SNP	0.003	T
CCDC40	55036	genome.wustl.edu	37	17	78061517	78061517	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78061517C>T	ENST00000397545.4	+	15	2588	c.2561C>T	c.(2560-2562)tCg>tTg	p.S854L	CCDC40_ENST00000374877.3_Missense_Mutation_p.S854L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	854					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGGTGCAGCTCGGAGGAGCTG	0.567																																						dbGAP											0													74.0	87.0	83.0					17																	78061517		2085	4211	6296	-	-	-	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2561C>T	17.37:g.78061517C>T	ENSP00000380679:p.Ser854Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.S854L	ENST00000397545.4	37	c.2561	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673500	0.29693	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.49720	0.77;0.78	4.71	3.74	0.42951	E3 ubiquitin ligase, BRE1 (1);	.	.	.	.	T	0.47097	0.1427	M	0.65975	2.015	0.09310	N	1	D;D	0.60575	0.988;0.971	P;B	0.50270	0.636;0.352	T	0.33137	-0.9880	9	0.09843	T	0.71	-14.9978	5.3097	0.15823	0.1626:0.653:0.0:0.1845	.	854;637	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	L	854	ENSP00000364011:S854L;ENSP00000380679:S854L	ENSP00000364011:S854L	S	+	2	0	CCDC40	75676112	0.011000	0.17503	0.175000	0.22980	0.048000	0.14542	0.739000	0.26173	0.972000	0.38314	0.557000	0.71058	TCG	CCDC40	-	pfam_E3_ubiquit_lig_BRE1	ENSG00000141519		0.567	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	165	0.00	0	C	XM_371082		78061517	78061517	+1	no_errors	ENST00000397545	ensembl	human	known	69_37n	missense	77	22.22	22	SNP	0.000	T
CCDC42B	387885	genome.wustl.edu	37	12	113593108	113593109	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:113593108_113593109delCT	ENST00000335621.6	+	6	734_735	c.734_735delCT	c.(733-735)actfs	p.T245fs	Y_RNA_ENST00000363029.1_RNA	NM_001144872.1	NP_001138344.1	A6NFT4	CC42B_HUMAN	coiled-coil domain containing 42B	245																	GCGGAGAAGACTCTGCTCCTGG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS44983.1	12q24.13	2014-07-31			ENSG00000186710	ENSG00000186710			37100	protein-coding gene	gene with protein product						23569216	Standard	NM_001144872		Approved	MIA2	uc010sys.2	A6NFT4	OTTHUMG00000169655	ENST00000335621.6:c.734_735delCT	12.37:g.113593110_113593111delCT	ENSP00000333915:p.Thr245fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.L246fs	ENST00000335621.6	37	c.734_735	CCDS44983.1	12																																																																																			CCDC42B	-	NULL	ENSG00000186710		0.609	CCDC42B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42B	HGNC	protein_coding	OTTHUMT00000405303.1	62	0.00	0	CT	NM_001144872		113593108	113593109	+1	no_errors	ENST00000335621	ensembl	human	known	69_37n	frame_shift_del	27	28.95	11	DEL	1.000:0.961	-
CCDC50	152137	genome.wustl.edu	37	3	191098055	191098055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:191098055G>T	ENST00000392455.3	+	6	1154	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	CCDC50_ENST00000392456.3_Nonsense_Mutation_p.E362*	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	186						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCAAGAAGAAGAACTTTTGGT	0.363																																						dbGAP											0													60.0	62.0	61.0					3																	191098055		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.556G>T	3.37:g.191098055G>T	ENSP00000376249:p.Glu186*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VH7	Nonsense_Mutation	SNP	NULL	p.E362*	ENST00000392455.3	37	c.1084	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.858620	0.98980	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.3633	0.74499	0.0:0.0:1.0:0.0	.	.	.	.	X	186;362	.	ENSP00000376249:E186X	E	+	1	0	CCDC50	192580749	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.289000	0.65656	2.704000	0.92352	0.561000	0.74099	GAA	CCDC50	-	NULL	ENSG00000152492		0.363	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	274	0.00	0	G	NM_174908		191098055	191098055	+1	no_errors	ENST00000392456	ensembl	human	known	69_37n	nonsense	130	29.35	54	SNP	1.000	T
CCDC57	284001	genome.wustl.edu	37	17	80130648	80130648	+	Missense_Mutation	SNP	C	C	T	rs531085389		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:80130648C>T	ENST00000389641.4	-	11	1631	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.R532Q|CCDC57_ENST00000392347.1_Missense_Mutation_p.R532Q			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	532										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATCGCGTTTCGCAAGCTCGT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18111	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													52.0	55.0	54.0					17																	80130648		2018	4169	6187	-	-	-	SO:0001583	missense	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1595G>A	17.37:g.80130648C>T	ENSP00000374292:p.Arg532Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.R532Q	ENST00000389641.4	37	c.1595		17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318560	0.81469	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	T;T;T	0.34667	2.6;2.6;1.35	4.82	4.82	0.62117	.	0.117736	0.37012	N	0.002281	T	0.57213	0.2038	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.60271	-0.7296	10	0.62326	D	0.03	-19.0084	13.3955	0.60849	0.0:1.0:0.0:0.0	.	532;532	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	Q	532;532;40;532	ENSP00000374292:R532Q;ENSP00000376158:R532Q;ENSP00000376154:R532Q	ENSP00000315967:R40Q	R	-	2	0	CCDC57	77723937	0.968000	0.33430	0.507000	0.27676	0.004000	0.04260	2.290000	0.43531	2.198000	0.70561	0.563000	0.77884	CGA	CCDC57	-	NULL	ENSG00000176155		0.502	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	119	0.00	0	C	NM_198082		80130648	80130648	-1	no_errors	ENST00000389641	ensembl	human	known	69_37n	missense	99	10.81	12	SNP	0.721	T
CCDC60	160777	genome.wustl.edu	37	12	119966456	119966456	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:119966456T>A	ENST00000327554.2	+	12	1731	c.1266T>A	c.(1264-1266)gcT>gcA	p.A422A	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	422										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTCCGTGCTTTTGTCCTTG	0.413																																						dbGAP											0													187.0	174.0	178.0					12																	119966456		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1266T>A	12.37:g.119966456T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.A422	ENST00000327554.2	37	c.1266	CCDS9190.1	12																																																																																			CCDC60	-	NULL	ENSG00000183273		0.413	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	343	0.00	0	T	NM_178499		119966456	119966456	+1	no_errors	ENST00000327554	ensembl	human	known	69_37n	silent	290	13.95	47	SNP	0.066	A
CCDC62	84660	genome.wustl.edu	37	12	123276620	123276620	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:123276620C>T	ENST00000253079.6	+	6	1068	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.R242C	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	242					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AGAGATCATTCGCCTCAAGCA	0.383																																						dbGAP											0													126.0	123.0	124.0					12																	123276620		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.724C>T	12.37:g.123276620C>T	ENSP00000253079:p.Arg242Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.R242C	ENST00000253079.6	37	c.724	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234481	0.79800	.	.	ENSG00000130783	ENST00000253079;ENST00000392441	T;T	0.36520	1.25;1.25	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000018	T	0.59088	0.2168	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.62124	-0.6920	10	0.72032	D	0.01	-13.3602	14.4063	0.67083	0.0:1.0:0.0:0.0	.	242;242	Q6P9F0-2;Q6P9F0	.;CCD62_HUMAN	C	242	ENSP00000253079:R242C;ENSP00000376236:R242C	ENSP00000253079:R242C	R	+	1	0	CCDC62	121842573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	2.529000	0.85273	0.585000	0.79938	CGC	CCDC62	-	superfamily_Prefoldin	ENSG00000130783		0.383	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	245	0.41	1	C	NM_032573		123276620	123276620	+1	no_errors	ENST00000253079	ensembl	human	known	69_37n	missense	155	10.34	18	SNP	1.000	T
CCDC7	79741	genome.wustl.edu	37	10	32740653	32740653	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:32740653A>C	ENST00000362006.5	+	2	626	c.83A>C	c.(82-84)aAt>aCt	p.N28T	CCDC7_ENST00000535327.1_Missense_Mutation_p.N28T|CCDC7_ENST00000545067.1_Missense_Mutation_p.N28T|CCDC7_ENST00000277657.6_Missense_Mutation_p.N28T|CCDC7_ENST00000537047.1_Missense_Mutation_p.N28T|CCDC7_ENST00000539197.1_Missense_Mutation_p.N28T	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	28										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GGACTACATAATTTACCATTA	0.353																																						dbGAP											0													95.0	91.0	92.0					10																	32740653		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.83A>C	10.37:g.32740653A>C	ENSP00000355078:p.Asn28Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.N28T	ENST00000362006.5	37	c.83	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	A	10.67	1.414126	0.25465	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.5	-3.04	0.05412	.	.	.	.	.	T	0.23886	0.0578	L	0.34521	1.04	0.09310	N	1	B;B	0.25312	0.017;0.123	B;B	0.22152	0.013;0.038	T	0.28267	-1.0049	9	0.48119	T	0.1	.	0.9172	0.01307	0.2801:0.2875:0.0989:0.3335	.	28;28	A6YT98;Q96M83	.;CCDC7_HUMAN	T	28	ENSP00000277657:N28T;ENSP00000355078:N28T;ENSP00000439930:N28T;ENSP00000441041:N28T;ENSP00000440632:N28T;ENSP00000442531:N28T	ENSP00000277657:N28T	N	+	2	0	CCDC7	32780659	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.004000	0.12878	-0.109000	0.12044	0.533000	0.62120	AAT	CCDC7	-	NULL	ENSG00000216937		0.353	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	167	0.00	0	A	NM_145023		32740653	32740653	+1	no_errors	ENST00000277657	ensembl	human	known	69_37n	missense	83	29.06	34	SNP	0.000	C
CCDC7	79741	genome.wustl.edu	37	10	32740682	32740682	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:32740682A>C	ENST00000362006.5	+	2	655	c.112A>C	c.(112-114)Aaa>Caa	p.K38Q	CCDC7_ENST00000535327.1_Missense_Mutation_p.K38Q|CCDC7_ENST00000545067.1_Missense_Mutation_p.K38Q|CCDC7_ENST00000277657.6_Missense_Mutation_p.K38Q|CCDC7_ENST00000537047.1_Missense_Mutation_p.K38Q|CCDC7_ENST00000539197.1_Missense_Mutation_p.K38Q	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	38										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GCTAAAGGAAAAACATAATGC	0.358																																						dbGAP											0													92.0	88.0	89.0					10																	32740682		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.112A>C	10.37:g.32740682A>C	ENSP00000355078:p.Lys38Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.K38Q	ENST00000362006.5	37	c.112	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039453	0.55003	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	4.91	4.91	0.64330	.	.	.	.	.	T	0.61148	0.2324	L	0.36672	1.1	0.09310	N	1	D;D	0.71674	0.992;0.998	D;D	0.69654	0.914;0.965	T	0.53078	-0.8489	9	0.87932	D	0	.	10.8691	0.46872	1.0:0.0:0.0:0.0	.	38;38	A6YT98;Q96M83	.;CCDC7_HUMAN	Q	38	ENSP00000277657:K38Q;ENSP00000355078:K38Q;ENSP00000439930:K38Q;ENSP00000441041:K38Q;ENSP00000440632:K38Q;ENSP00000442531:K38Q	ENSP00000277657:K38Q	K	+	1	0	CCDC7	32780688	0.995000	0.38212	0.068000	0.19968	0.004000	0.04260	3.543000	0.53633	2.062000	0.61559	0.533000	0.62120	AAA	CCDC7	-	NULL	ENSG00000216937		0.358	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	177	0.00	0	A	NM_145023		32740682	32740682	+1	no_errors	ENST00000277657	ensembl	human	known	69_37n	missense	78	28.44	31	SNP	0.078	C
CCDC71	64925	genome.wustl.edu	37	3	49200430	49200431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:49200430_49200431insG	ENST00000321895.6	-	2	1317_1318	c.1211_1212insC	c.(1210-1212)agafs	p.R404fs		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	404										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAAGCCGTGTTCTCTTCTTGGG	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.1211_1212insC	3.37:g.49200430_49200431insG	ENSP00000319006:p.Arg404fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPE2|Q9H8H4|Q9H9F1	Frame_Shift_Ins	INS	NULL	p.R404fs	ENST00000321895.6	37	c.1212_1211	CCDS2790.1	3																																																																																			CCDC71	-	NULL	ENSG00000177352		0.550	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC71	HGNC	protein_coding	OTTHUMT00000345980.1	61	0.00	0	-	NM_022903		49200430	49200431	-1	no_errors	ENST00000321895	ensembl	human	known	69_37n	frame_shift_ins	53	20.90	14	INS	0.102:0.861	G
CCDC77	84318	genome.wustl.edu	37	12	549873	549873	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:549873C>A	ENST00000239830.4	+	11	1311	c.1132C>A	c.(1132-1134)Cgt>Agt	p.R378S	CCDC77_ENST00000422000.1_Missense_Mutation_p.R346S|CCDC77_ENST00000412006.2_Missense_Mutation_p.R346S|CCDC77_ENST00000540180.1_Missense_Mutation_p.R346S	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	378						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGCCCGAATTCGTGAGGAAGA	0.433																																						dbGAP											0													100.0	101.0	101.0					12																	549873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1132C>A	12.37:g.549873C>A	ENSP00000239830:p.Arg378Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDE8	Missense_Mutation	SNP	NULL	p.R378S	ENST00000239830.4	37	c.1132	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799399	0.50208	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.38	4.5	0.54988	.	0.232261	0.43919	D	0.000514	T	0.35913	0.0948	M	0.65975	2.015	0.38730	D	0.95365	B	0.23185	0.081	B	0.19391	0.025	T	0.26744	-1.0094	10	0.40728	T	0.16	-6.0785	10.6382	0.45577	0.1315:0.7984:0.0:0.0701	.	378	Q9BR77	CCD77_HUMAN	S	346;346;346;378;346	ENSP00000440554:R346S;ENSP00000391870:R346S;ENSP00000445873:R346S;ENSP00000239830:R378S;ENSP00000412925:R346S	ENSP00000239830:R378S	R	+	1	0	CCDC77	420134	1.000000	0.71417	0.987000	0.45799	0.272000	0.26649	2.673000	0.46858	1.274000	0.44362	-0.244000	0.11960	CGT	CCDC77	-	NULL	ENSG00000120647		0.433	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	238	0.00	0	C	NM_032358		549873	549873	+1	no_errors	ENST00000239830	ensembl	human	known	69_37n	missense	255	26.30	91	SNP	1.000	A
CCDC80	151887	genome.wustl.edu	37	3	112328885	112328885	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:112328885C>T	ENST00000206423.3	-	6	3318	c.2365G>A	c.(2365-2367)Gat>Aat	p.D789N	CCDC80_ENST00000439685.2_Missense_Mutation_p.D789N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	789					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CAGTCTTCATCGTTAGGAGCA	0.493																																						dbGAP											0													137.0	119.0	125.0					3																	112328885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2365G>A	3.37:g.112328885C>T	ENSP00000206423:p.Asp789Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.D789N	ENST00000206423.3	37	c.2365	CCDS2968.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.143464|5.143464	0.94603|0.94603	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368|ENST00000461431	T;T;T|.	0.43294|.	0.95;0.95;0.95|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.104766|.	0.64402|.	D|.	0.000004|.	T|T	0.74558|0.74558	0.3732|0.3732	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.79108|.	0.986;0.992;0.992|.	T|T	0.70923|0.70923	-0.4740|-0.4740	10|5	0.35671|.	T|.	0.21|.	-23.6699|-23.6699	19.982|19.982	0.97329|0.97329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	800;789;789|.	Q76M96-2;A3KC71;Q76M96|.	.;.;CCD80_HUMAN|.	N|Q	789;789;417;67|186	ENSP00000206423:D789N;ENSP00000411814:D789N;ENSP00000418188:D67N|.	ENSP00000206423:D789N|.	D|R	-|-	1|2	0|0	CCDC80|CCDC80	113811575|113811575	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.975000|0.975000	0.68041|0.68041	5.953000|5.953000	0.70290|0.70290	2.798000|2.798000	0.96311|0.96311	0.650000|0.650000	0.86243|0.86243	GAT|CGA	CCDC80	-	NULL	ENSG00000091986		0.493	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	249	0.00	0	C	NM_199511		112328885	112328885	-1	no_errors	ENST00000206423	ensembl	human	known	69_37n	missense	141	26.04	50	SNP	1.000	T
CCDC83	220047	genome.wustl.edu	37	11	85576225	85576225	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:85576225T>G	ENST00000342404.3	+	2	275	c.59T>G	c.(58-60)aTt>aGt	p.I20S	CCDC83_ENST00000280245.4_Missense_Mutation_p.I20S|CCDC83_ENST00000376067.1_De_novo_Start_InFrame			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	20										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCAAAAGAAATTAAACTGCCT	0.363																																						dbGAP											0													133.0	134.0	133.0					11																	85576225		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.59T>G	11.37:g.85576225T>G	ENSP00000344512:p.Ile20Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	NULL	p.I20S	ENST00000342404.3	37	c.59		11	.	.	.	.	.	.	.	.	.	.	T	8.415	0.845172	0.16963	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.39787	1.06;1.09	5.28	-8.73	0.00841	.	1.976790	0.02453	N	0.085727	T	0.08891	0.0220	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19877	-1.0292	9	.	.	.	4.6702	0.329	0.00315	0.3189:0.2632:0.2151:0.2027	.	20;20	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	S	20	ENSP00000280245:I20S;ENSP00000344512:I20S	.	I	+	2	0	CCDC83	85253873	0.000000	0.05858	0.000000	0.03702	0.557000	0.35523	-2.566000	0.00917	-1.099000	0.03034	0.460000	0.39030	ATT	CCDC83	-	NULL	ENSG00000150676		0.363	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	240	0.00	0	T	NM_173556		85576225	85576225	+1	no_errors	ENST00000280245	ensembl	human	known	69_37n	missense	149	14.86	26	SNP	0.000	G
CCDC83	220047	genome.wustl.edu	37	11	85627278	85627278	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:85627278T>C	ENST00000342404.3	+	10	1296		c.e10+2		CCDC83_ENST00000280245.4_Splice_Site|CCDC83_ENST00000376067.1_Splice_Site|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GATTTCAAGGTAAGATTCATA	0.323																																						dbGAP											0													89.0	98.0	95.0					11																	85627278		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.1080+2T>C	11.37:g.85627278T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Splice_Site	SNP	-	e10+2	ENST00000342404.3	37	c.1173+2		11	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711516	0.68730	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404;ENST00000526729	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0631	0.53574	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC83	85304926	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	3.640000	0.54350	2.096000	0.63516	0.482000	0.46254	.	CCDC83	-	-	ENSG00000150676		0.323	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	91	0.00	0	T	NM_173556	Intron	85627278	85627278	+1	no_errors	ENST00000280245	ensembl	human	known	69_37n	splice_site	75	14.77	13	SNP	0.999	C
CCDC81	60494	genome.wustl.edu	37	11	86120354	86120354	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:86120354C>A	ENST00000445632.2	+	10	1437	c.1165C>A	c.(1165-1167)Ctt>Att	p.L389I	CCDC81_ENST00000278487.3_Missense_Mutation_p.L124I|CCDC81_ENST00000354755.1_Missense_Mutation_p.L299I|CCDC81_ENST00000528728.1_Missense_Mutation_p.L124I	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	389										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TGCCTATAATCTTGGAGTTGC	0.299																																						dbGAP											0													55.0	63.0	60.0					11																	86120354		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1165C>A	11.37:g.86120354C>A	ENSP00000415528:p.Leu389Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd	p.L389I	ENST00000445632.2	37	c.1165	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593345	0.86953	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.89	5.89	0.94794	.	0.081437	0.50627	D	0.000117	T	0.66636	0.2809	M	0.78049	2.395	0.34447	D	0.70028	P;P;D	0.76494	0.944;0.899;0.999	P;B;D	0.83275	0.646;0.441;0.996	T	0.74441	-0.3664	9	.	.	.	-14.1619	17.1734	0.86835	0.0:1.0:0.0:0.0	.	124;389;299	Q6ZN84-3;Q6ZN84;Q6ZN84-2	.;CCD81_HUMAN;.	I	299;124;389;124	ENSP00000346800:L299I;ENSP00000278487:L124I;ENSP00000415528:L389I;ENSP00000437165:L124I	.	L	+	1	0	CCDC81	85798002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.769000	0.47654	2.793000	0.96121	0.561000	0.74099	CTT	CCDC81	-	NULL	ENSG00000149201		0.299	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	272	0.00	0	C	NM_021827		86120354	86120354	+1	no_errors	ENST00000445632	ensembl	human	known	69_37n	missense	163	29.13	67	SNP	1.000	A
CCDC88A	55704	genome.wustl.edu	37	2	55523025	55523025	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:55523025A>C	ENST00000436346.1	-	31	6100	c.5259T>G	c.(5257-5259)ttT>ttG	p.F1753L	CCDC88A_ENST00000263630.8_Missense_Mutation_p.F1725L|CCDC88A_ENST00000422883.2_Missense_Mutation_p.F254L|CCDC88A_ENST00000336838.6_Missense_Mutation_p.F1752L|CCDC88A_ENST00000413716.2_Intron	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1753					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CAGGTCTCAAAAACTCAGGCT	0.423																																						dbGAP											0													76.0	80.0	78.0					2																	55523025		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5259T>G	2.37:g.55523025A>C	ENSP00000410608:p.Phe1753Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.F1753L	ENST00000436346.1	37	c.5259		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	9.683|9.683|9.683	1.149784|1.149784|1.149784	0.21288|0.21288|0.21288	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000444458|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000426576|ENST00000456975	.|T;T;T;T;T|.	.|0.40756|.	.|2.62;2.81;2.85;1.02;1.53|.	4.88|4.88|4.88	4.88|4.88|4.88	0.63580|0.63580|0.63580	.|.|.	0.283820|0.283820|0.283820	0.25112|0.25112|0.25112	U|U|U	0.033049|0.033049|0.033049	T|T|T	0.10637|0.10637|0.10637	0.0260|0.0260|0.0260	N|N|N	0.00926|0.00926|0.00926	-1.1|-1.1|-1.1	0.25359|0.25359|0.25359	N|N|N	0.988793|0.988793|0.988793	.|B;B;D;B;B;B|.	.|0.58268|.	.|0.0;0.0;0.982;0.0;0.0;0.0|.	.|B;B;D;B;B;B|.	.|0.68943|.	.|0.001;0.0;0.961;0.0;0.001;0.001|.	T|T|T	0.17992|0.17992|0.17992	-1.0351|-1.0351|-1.0351	7|10|7	0.32370|0.10111|0.25751	T|T|T	0.25|0.7|0.34	-14.368|-14.368|-14.368	10.8504|10.8504|10.8504	0.46767|0.46767|0.46767	0.9229:0.0:0.0771:0.0|0.9229:0.0:0.0771:0.0|0.9229:0.0:0.0771:0.0	.|.|.	.|1725;1670;254;1753;1752;1724|.	.|Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.|.;.;.;GRDN_HUMAN;.;.|.	C|L|V	256|1752;1725;1753;254;770;928|706	.|ENSP00000338728:F1752L;ENSP00000263630:F1725L;ENSP00000410608:F1753L;ENSP00000390012:F770L;ENSP00000405080:F928L|.	ENSP00000413401:F256C|ENSP00000263630:F1725L|ENSP00000415267:F706V	F|F|F	-|-|-	2|3|1	0|2|0	CCDC88A|CCDC88A|CCDC88A	55376529|55376529|55376529	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	1.589000|1.589000|1.589000	0.36644|0.36644|0.36644	1.938000|1.938000|1.938000	0.56188|0.56188|0.56188	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	TTT|TTT|TTT	CCDC88A	-	NULL	ENSG00000115355		0.423	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		147	0.00	0	A	NM_017571		55523025	55523025	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	85	16.67	17	SNP	0.999	C
CCDC88A	55704	genome.wustl.edu	37	2	55562183	55562183	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:55562183G>T	ENST00000436346.1	-	15	2615	c.1774C>A	c.(1774-1776)Ctt>Att	p.L592I	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L592I|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L592I|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L592I|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	592					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GATTCATGAAGAATTTTGTTT	0.323																																						dbGAP											0													46.0	47.0	46.0					2																	55562183		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1774C>A	2.37:g.55562183G>T	ENSP00000410608:p.Leu592Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.L592I	ENST00000436346.1	37	c.1774		2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797254	0.70567	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.19105	2.17;2.42;2.4;2.18	5.18	4.29	0.51040	.	0.000000	0.39834	U	0.001257	T	0.43787	0.1263	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.85130	0.997;0.99;0.997	T	0.29701	-1.0003	10	0.46703	T	0.11	-3.4058	13.0997	0.59212	0.0772:0.0:0.9228:0.0	.	592;592;592	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	I	592	ENSP00000338728:L592I;ENSP00000263630:L592I;ENSP00000410608:L592I;ENSP00000404431:L592I	ENSP00000263630:L592I	L	-	1	0	CCDC88A	55415687	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.651000	0.83577	2.400000	0.81607	0.561000	0.74099	CTT	CCDC88A	-	NULL	ENSG00000115355		0.323	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		95	0.00	0	G	NM_017571		55562183	55562183	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	56	32.53	27	SNP	1.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55599608	55599608	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:55599608A>C	ENST00000436346.1	-	5	1223	c.382T>G	c.(382-384)Tta>Gta	p.L128V	CCDC88A_ENST00000336838.6_Missense_Mutation_p.L128V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L128V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L128V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	128					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CAACCCAATAAAAGTAAAAGC	0.269																																						dbGAP											0													50.0	48.0	49.0					2																	55599608		2199	4297	6496	-	-	-	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.382T>G	2.37:g.55599608A>C	ENSP00000410608:p.Leu128Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.L128V	ENST00000436346.1	37	c.382		2	.	.	.	.	.	.	.	.	.	.	A	4.067	0.010203	0.07912	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	4.79	3.59	0.41128	.	0.000000	0.35124	U	0.003421	T	0.24699	0.0599	L	0.52905	1.665	0.80722	D	1	B;D;D	0.76494	0.173;0.998;0.999	B;D;D	0.71656	0.124;0.964;0.974	T	0.09596	-1.0667	10	0.12766	T	0.61	-5.5137	8.7736	0.34747	0.8383:0.0:0.1617:0.0	.	128;128;128	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	128;128;128;128;53	ENSP00000338728:L128V;ENSP00000263630:L128V;ENSP00000410608:L128V;ENSP00000404431:L128V;ENSP00000399237:L53V	ENSP00000263630:L128V	L	-	1	2	CCDC88A	55453112	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.885000	0.39678	0.727000	0.32360	0.402000	0.26972	TTA	CCDC88A	-	pfam_HOOK	ENSG00000115355		0.269	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		306	0.00	0	A	NM_017571		55599608	55599608	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	missense	262	11.19	33	SNP	1.000	C
CCDC88A	55704	genome.wustl.edu	37	2	55599632	55599632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:55599632C>A	ENST00000436346.1	-	5	1199	c.358G>T	c.(358-360)Gaa>Taa	p.E120*	CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.E120*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.E120*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.E120*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	120					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTTAACTTCTTCTGTGCCT	0.254																																						dbGAP											0													48.0	47.0	47.0					2																	55599632		2197	4296	6493	-	-	-	SO:0001587	stop_gained	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.358G>T	2.37:g.55599632C>A	ENSP00000410608:p.Glu120*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.E120*	ENST00000436346.1	37	c.358		2	.	.	.	.	.	.	.	.	.	.	C	37	6.354699	0.97498	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	.	.	.	4.79	4.79	0.61399	.	0.000000	0.46442	U	0.000300	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.7843	17.8073	0.88605	0.0:1.0:0.0:0.0	.	.	.	.	X	120;120;120;120;45	.	ENSP00000263630:E120X	E	-	1	0	CCDC88A	55453136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.395000	0.73228	2.351000	0.79841	0.491000	0.48974	GAA	CCDC88A	-	pfam_HOOK	ENSG00000115355		0.254	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		319	0.00	0	C	NM_017571		55599632	55599632	-1	no_errors	ENST00000436346	ensembl	human	known	69_37n	nonsense	283	12.92	42	SNP	1.000	A
CCDC88C	440193	genome.wustl.edu	37	14	91766302	91766302	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:91766302C>T	ENST00000389857.6	-	21	3834	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1250					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTGGTTCTCGCCCATGGCG	0.652																																						dbGAP											0													15.0	18.0	17.0					14																	91766302		2068	4198	6266	-	-	-	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3748G>A	14.37:g.91766302C>T	ENSP00000374507:p.Glu1250Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.E1250K	ENST00000389857.6	37	c.3748	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.492694	0.96339	.	.	ENSG00000015133	ENST00000389857	T	0.20881	2.04	5.24	5.24	0.73138	.	0.000000	0.48767	U	0.000173	T	0.47507	0.1449	M	0.83603	2.65	0.80722	D	1	D	0.65815	0.995	P	0.57679	0.825	T	0.54337	-0.8309	10	0.87932	D	0	-36.1419	19.1741	0.93597	0.0:1.0:0.0:0.0	.	1250	Q9P219	DAPLE_HUMAN	K	1250	ENSP00000374507:E1250K	ENSP00000374507:E1250K	E	-	1	0	CCDC88C	90836055	1.000000	0.71417	0.981000	0.43875	0.646000	0.38490	5.328000	0.65887	2.596000	0.87737	0.549000	0.68633	GAG	CCDC88C	-	NULL	ENSG00000015133		0.652	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	31	0.00	0	C	XM_029353		91766302	91766302	-1	no_errors	ENST00000389857	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	T
CCDC90B	60492	genome.wustl.edu	37	11	82984702	82984702	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:82984702T>A	ENST00000529689.1	-	7	1016	c.582A>T	c.(580-582)gaA>gaT	p.E194D	CCDC90B_ENST00000525503.1_Missense_Mutation_p.E93D|CCDC90B_ENST00000529611.1_Missense_Mutation_p.E93D|CCDC90B_ENST00000455220.2_Missense_Mutation_p.E185D|CCDC90B_ENST00000529073.1_Missense_Mutation_p.N183I			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	194						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTTTTGTAAATTCTGTAGTTG	0.284																																						dbGAP											0													78.0	79.0	79.0					11																	82984702		2198	4299	6497	-	-	-	SO:0001583	missense	0			BC048795	CCDS8266.1, CCDS66190.1, CCDS66191.1	11q14.1	2006-10-23			ENSG00000137500	ENSG00000137500			28108	protein-coding gene	gene with protein product						11230166	Standard	XM_005274154		Approved	MDS025, MDS011	uc001pae.3	Q9GZT6	OTTHUMG00000167078	ENST00000529689.1:c.582A>T	11.37:g.82984702T>A	ENSP00000434724:p.Glu194Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I4|B3KP87|B4E3L2|Q3B781|Q9GZU6	Missense_Mutation	SNP	pfam_DUF1640	p.E194D	ENST00000529689.1	37	c.582	CCDS8266.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.19|12.19	1.862179|1.862179	0.32884|0.32884	.|.	.|.	ENSG00000137500|ENSG00000137500	ENST00000529689;ENST00000455220;ENST00000525503;ENST00000529611;ENST00000527495|ENST00000529073	T;T;T;T;T|T	0.50277|0.33216	1.32;0.75;0.79;0.79;0.93|1.42	5.93|5.93	4.78|4.78	0.61160|0.61160	.|.	0.090917|.	0.85682|.	D|.	0.000000|.	T|T	0.40145|0.40145	0.1105|0.1105	M|M	0.74647|0.74647	2.275|2.275	0.25604|0.25604	N|N	0.986562|0.986562	B;B|.	0.26445|.	0.122;0.149|.	B;B|.	0.32583|.	0.056;0.148|.	T|T	0.39820|0.39820	-0.9595|-0.9595	9|6	.|.	.|.	.|.	-14.4074|-14.4074	5.3846|5.3846	0.16211|0.16211	0.1534:0.102:0.0:0.7446|0.1534:0.102:0.0:0.7446	.|.	185;194|.	Q9GZT6-2;Q9GZT6|.	.;CC90B_HUMAN|.	D|I	194;185;93;93;121|183	ENSP00000434724:E194D;ENSP00000390990:E185D;ENSP00000431424:E93D;ENSP00000431345:E93D;ENSP00000436974:E121D|ENSP00000431523:N183I	.|.	E|N	-|-	3|2	2|0	CCDC90B|CCDC90B	82662350|82662350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.196000|2.196000	0.42686|0.42686	1.038000|1.038000	0.40049|0.40049	0.482000|0.482000	0.46254|0.46254	GAA|AAT	CCDC90B	-	pfam_DUF1640	ENSG00000137500		0.284	CCDC90B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC90B	HGNC	protein_coding	OTTHUMT00000392940.2	460	0.00	0	T	NM_021825		82984702	82984702	-1	no_errors	ENST00000529689	ensembl	human	known	69_37n	missense	249	28.86	101	SNP	1.000	A
CCDC93	54520	genome.wustl.edu	37	2	118753908	118753908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:118753908C>A	ENST00000376300.2	-	5	531	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.E132*|RP11-98C1.2_ENST00000591103.1_RNA|CCDC93_ENST00000460781.1_5'Flank|RP11-98C1.1_ENST00000588733.1_RNA|AC009303.1_ENST00000585381.3_RNA|AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000413179.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	132										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CCCATCTCTTCTTTTGTTTCT	0.448																																						dbGAP											0													145.0	137.0	140.0					2																	118753908		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.394G>T	2.37:g.118753908C>A	ENSP00000365477:p.Glu132*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Nonsense_Mutation	SNP	pfam_DUF2037	p.E132*	ENST00000376300.2	37	c.394	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	38	6.729412	0.97796	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	5.51	4.57	0.56435	.	0.049152	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-20.555	13.8397	0.63430	0.0:0.7336:0.2664:0.0	.	.	.	.	X	132	.	ENSP00000324135:E132X	E	-	1	0	CCDC93	118470378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.390000	0.59646	2.747000	0.94245	0.650000	0.86243	GAA	CCDC93	-	pfam_DUF2037	ENSG00000125633		0.448	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	457	0.00	0	C	NM_019044		118753908	118753908	-1	no_errors	ENST00000376300	ensembl	human	known	69_37n	nonsense	349	12.94	52	SNP	1.000	A
CCKAR	886	genome.wustl.edu	37	4	26491017	26491017	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:26491017G>A	ENST00000295589.3	-	2	396	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	68					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGCTTGTTCCGAATCAGCACG	0.562																																						dbGAP											0													157.0	137.0	144.0					4																	26491017		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.202C>T	4.37:g.26491017G>A	ENSP00000295589:p.Arg68Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Z5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.R68W	ENST00000295589.3	37	c.202	CCDS3438.1	4	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578127	0.65878	.	.	ENSG00000163394	ENST00000295589	T	0.42513	0.97	5.24	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.87456	2.885	0.58432	D	0.999991	D	0.89917	1.0	D	0.77557	0.99	T	0.73672	-0.3909	10	0.72032	D	0.01	.	13.118	0.59311	0.0:0.0:0.5855:0.4145	.	68	P32238	CCKAR_HUMAN	W	68	ENSP00000295589:R68W	ENSP00000295589:R68W	R	-	1	2	CCKAR	26100115	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.268000	0.33062	1.189000	0.43028	0.561000	0.74099	CGG	CCKAR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY_rcpt	ENSG00000163394		0.562	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	HGNC	protein_coding	OTTHUMT00000250418.2	464	0.00	0	G			26491017	26491017	-1	no_errors	ENST00000295589	ensembl	human	known	69_37n	missense	221	26.25	79	SNP	1.000	A
CCL19	6363	genome.wustl.edu	37	9	34689962	34689962	+	Missense_Mutation	SNP	G	G	A	rs541327893		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:34689962G>A	ENST00000311925.2	-	3	378	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	CCL19_ENST00000485502.1_5'UTR|CCL19_ENST00000378800.3_Missense_Mutation_p.R81C	NM_006274.2	NP_006265.1	Q99731	CCL19_HUMAN	chemokine (C-C motif) ligand 19	81					activation of JUN kinase activity (GO:0007257)|cell communication (GO:0007154)|cell maturation (GO:0048469)|cellular calcium ion homeostasis (GO:0006874)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cell motility (GO:2000147)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell dendrite assembly (GO:2000549)|positive regulation of endocytosis (GO:0045807)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell projection assembly (GO:0060491)|release of sequestered calcium ion into cytosol (GO:0051209)|response to nitric oxide (GO:0071731)|response to organic cyclic compound (GO:0014070)|response to prostaglandin E (GO:0034695)|response to virus (GO:0009615)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR chemokine receptor binding (GO:0048020)|CCR10 chemokine receptor binding (GO:0031735)|CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGGATGATGCGTTCTACCCAG	0.632																																					Melanoma(129;177 1723 4710 11020 27705)	dbGAP											0													69.0	62.0	64.0					9																	34689962		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000887	CCDS6570.1	9p13	2014-05-14	2002-08-22	2002-08-23	ENSG00000172724	ENSG00000172724		"""Chemokine ligands"", ""Endogenous ligands"""	10617	protein-coding gene	gene with protein product	"""CC chemokine ligand 19"", ""macrophage inflammatory protein 3-beta"", ""beta chemokine exodus-3"", ""CK beta-11"", ""EBI1-ligand chemokine"""	602227	"""small inducible cytokine subfamily A (Cys-Cys), member 19"""	SCYA19		9153236	Standard	NM_006274		Approved	ELC, MIP-3b, exodus-3, CKb11	uc003zvn.3	Q99731	OTTHUMG00000019833	ENST00000311925.2:c.241C>T	9.37:g.34689962G>A	ENSP00000308815:p.Arg81Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00697|O00736	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R81C	ENST00000311925.2	37	c.241	CCDS6570.1	9	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935248	0.52866	.	.	ENSG00000172724	ENST00000311925;ENST00000378800	T;T	0.05786	3.39;3.39	5.09	5.09	0.68999	Chemokine interleukin-8-like domain (3);	0.341311	0.29515	N	0.011932	T	0.24509	0.0594	.	.	.	0.45594	D	0.998538	D	0.89917	1.0	D	0.87578	0.998	T	0.00133	-1.2010	9	0.72032	D	0.01	-28.3073	13.8662	0.63590	0.0:0.0:1.0:0.0	.	81	Q99731	CCL19_HUMAN	C	81	ENSP00000308815:R81C;ENSP00000368077:R81C	ENSP00000308815:R81C	R	-	1	0	CCL19	34679962	0.995000	0.38212	0.953000	0.39169	0.164000	0.22412	4.150000	0.58098	2.662000	0.90505	0.591000	0.81541	CGC	CCL19	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000172724		0.632	CCL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL19	HGNC	protein_coding	OTTHUMT00000052225.1	171	0.00	0	G	NM_006274		34689962	34689962	-1	no_errors	ENST00000378800	ensembl	human	known	69_37n	missense	170	11.46	22	SNP	0.945	A
CCNA2	890	genome.wustl.edu	37	4	122742137	122742137	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:122742137C>A	ENST00000274026.5	-	3	870	c.567G>T	c.(565-567)atG>atT	p.M189I		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	189					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CCTTTACCTCCATTTCCCTAA	0.308																																						dbGAP											0													183.0	173.0	176.0					4																	122742137		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.567G>T	4.37:g.122742137C>A	ENSP00000274026:p.Met189Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.M189I	ENST00000274026.5	37	c.567	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807883	0.50421	.	.	ENSG00000145386	ENST00000274026	T	0.11063	2.81	5.9	3.21	0.36854	Cyclin, N-terminal (1);Cyclin-like (1);	0.040616	0.85682	D	0.000000	T	0.06554	0.0168	N	0.10645	0.015	0.43149	D	0.994918	B	0.18741	0.03	B	0.34301	0.179	T	0.35919	-0.9769	10	0.39692	T	0.17	.	6.3132	0.21176	0.1367:0.6615:0.1315:0.0703	.	189	P20248	CCNA2_HUMAN	I	189	ENSP00000274026:M189I	ENSP00000274026:M189I	M	-	3	0	CCNA2	122961587	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.681000	0.68175	0.374000	0.24650	0.591000	0.81541	ATG	CCNA2	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000145386		0.308	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	181	0.00	0	C	NM_001237		122742137	122742137	-1	no_errors	ENST00000274026	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	1.000	A
CCNB1IP1	57820	genome.wustl.edu	37	14	20784645	20784645	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20784645C>T	ENST00000398169.3	-	5	654	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.R13Q|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.R13Q|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.R13Q|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.R13Q|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.R13Q			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	13					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCGACACTTTCGATAATTACA	0.463			T	HMGA2	leiomyoma																																	dbGAP		Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	0													91.0	85.0	87.0					14																	20784645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.38G>A	14.37:g.20784645C>T	ENSP00000381235:p.Arg13Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R13Q	ENST00000398169.3	37	c.38	CCDS9547.1	14	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021481	0.54576	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665;ENST00000556563	.	.	.	6.07	6.07	0.98685	.	0.058025	0.64402	D	0.000001	T	0.57725	0.2073	L	0.39898	1.24	0.39676	D	0.970827	D	0.56035	0.974	P	0.48166	0.569	T	0.51725	-0.8669	9	0.23302	T	0.38	-12.4174	19.4154	0.94694	0.0:1.0:0.0:0.0	.	13	Q9NPC3	CIP1_HUMAN	Q	13;13;13;13;13;13;13;44	.	ENSP00000337396:R13Q	R	-	2	0	CCNB1IP1	19854485	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	3.479000	0.53165	2.884000	0.98904	0.655000	0.94253	CGA	CCNB1IP1	-	NULL	ENSG00000100814		0.463	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	CCNB1IP1	HGNC	protein_coding	OTTHUMT00000073538.3	113	0.00	0	C	NM_021178, NM_182849, NM_182851, NM_182852		20784645	20784645	-1	no_errors	ENST00000353689	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.996	T
CCNB3	85417	genome.wustl.edu	37	X	50052754	50052754	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:50052754G>A	ENST00000376042.1	+	6	1883	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E529K			Q8WWL7	CCNB3_HUMAN	cyclin B3	529					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTAAAGAAGAAAAAGTGTC	0.403																																						dbGAP											0													36.0	33.0	34.0					X																	50052754		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1585G>A	X.37:g.50052754G>A	ENSP00000365210:p.Glu529Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.E529K	ENST00000376042.1	37	c.1585	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	G	9.956	1.221402	0.22457	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.20200	2.09;2.09	2.46	0.563	0.17296	.	1819.510000	0.00166	N	0.000000	T	0.16599	0.0399	L	0.35723	1.085	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14337	-1.0476	9	.	.	.	.	3.2055	0.06665	0.1791:0.2765:0.5444:0.0	.	529	Q8WWL7	CCNB3_HUMAN	K	529	ENSP00000365210:E529K;ENSP00000276014:E529K	.	E	+	1	0	CCNB3	50069494	0.000000	0.05858	0.003000	0.11579	0.192000	0.23643	-0.293000	0.08320	0.025000	0.15241	0.509000	0.49947	GAA	CCNB3	-	NULL	ENSG00000147082		0.403	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	83	0.00	0	G			50052754	50052754	+1	no_errors	ENST00000276014	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	0.003	A
CCNB3	85417	genome.wustl.edu	37	X	50053025	50053025	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:50053025A>C	ENST00000376042.1	+	6	2154	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.K619T			Q8WWL7	CCNB3_HUMAN	cyclin B3	619					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCATTCTATAAGAAGCTGTTG	0.428																																						dbGAP											0													35.0	33.0	34.0					X																	50053025		2202	4297	6499	-	-	-	SO:0001583	missense	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1856A>C	X.37:g.50053025A>C	ENSP00000365210:p.Lys619Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like	p.K619T	ENST00000376042.1	37	c.1856	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	A	15.79	2.937735	0.52972	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.38240	1.15;1.15	3.94	3.94	0.45596	.	4.100380	0.00550	N	0.000250	T	0.53690	0.1812	L	0.53249	1.67	0.09310	N	1	D	0.64830	0.994	P	0.59825	0.864	T	0.23904	-1.0175	9	.	.	.	.	8.3459	0.32272	1.0:0.0:0.0:0.0	.	619	Q8WWL7	CCNB3_HUMAN	T	619	ENSP00000365210:K619T;ENSP00000276014:K619T	.	K	+	2	0	CCNB3	50069765	0.334000	0.24739	0.046000	0.18839	0.099000	0.18886	1.960000	0.40422	1.789000	0.52484	0.381000	0.24937	AAG	CCNB3	-	NULL	ENSG00000147082		0.428	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	94	0.00	0	A			50053025	50053025	+1	no_errors	ENST00000276014	ensembl	human	known	69_37n	missense	56	39.78	37	SNP	0.046	C
CCNJL	79616	genome.wustl.edu	37	5	159686771	159686771	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:159686771G>A	ENST00000393977.3	-	5	717	c.432C>T	c.(430-432)ttC>ttT	p.F144F	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.F96F|CCNJL_ENST00000519673.1_Silent_p.F96F|CCNJL_ENST00000541762.1_Silent_p.F95F	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	144	Cyclin N-terminal.					nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGATCCTCGAACTTACCTG	0.552																																						dbGAP											0													109.0	103.0	105.0					5																	159686771		2002	4172	6174	-	-	-	SO:0001819	synonymous_variant	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.432C>T	5.37:g.159686771G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZN43|Q9H7W8	Silent	SNP	pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.F144	ENST00000393977.3	37	c.432	CCDS4350.2	5																																																																																			CCNJL	-	smart_Cyclin-like	ENSG00000135083		0.552	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	313	0.32	1	G	NM_024565		159686771	159686771	-1	no_errors	ENST00000393977	ensembl	human	known	69_37n	silent	186	28.24	74	SNP	0.998	A
CCNK	8812	genome.wustl.edu	37	14	99969296	99969296	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:99969296C>A	ENST00000389879.5	+	8	1109	c.986C>A	c.(985-987)tCt>tAt	p.S329Y	CCNK_ENST00000555049.1_Missense_Mutation_p.S329Y	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	329					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CAGCCCAGTTCTCCCCGACAG	0.627																																						dbGAP											0													90.0	117.0	108.0					14																	99969296		2053	4205	6258	-	-	-	SO:0001583	missense	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.986C>A	14.37:g.99969296C>A	ENSP00000374529:p.Ser329Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.S329Y	ENST00000389879.5	37	c.986	CCDS45160.1	14	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765653	0.49574	.	.	ENSG00000090061	ENST00000437596;ENST00000380246;ENST00000389879;ENST00000555049	T;D	0.92595	2.2;-3.07	5.95	5.95	0.96441	.	0.053890	0.85682	D	0.000000	D	0.85371	0.5681	N	0.08118	0	0.38673	D	0.952349	B	0.27732	0.187	B	0.24541	0.054	T	0.82824	-0.0266	10	0.56958	D	0.05	-4.4319	20.3932	0.98965	0.0:1.0:0.0:0.0	.	329	O75909	CCNK_HUMAN	Y	329;331;329;329	ENSP00000374529:S329Y;ENSP00000452307:S329Y	ENSP00000369596:S331Y	S	+	2	0	CCNK	99039049	1.000000	0.71417	0.940000	0.37924	0.371000	0.29859	6.891000	0.75639	2.824000	0.97209	0.655000	0.94253	TCT	CCNK	-	NULL	ENSG00000090061		0.627	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	213	0.00	0	C			99969296	99969296	+1	no_errors	ENST00000389879	ensembl	human	known	69_37n	missense	156	20.41	40	SNP	1.000	A
CCPG1	9236	genome.wustl.edu	37	15	55652650	55652650	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:55652650C>T	ENST00000310958.6	-	8	1619	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.E441K|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.E441K	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	441					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.E441*(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CGCTGCTGTTCGAAGGTTAGC	0.413																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											229.0	212.0	217.0					15																	55652650		1872	4121	5993	-	-	-	SO:0001583	missense	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1321G>A	15.37:g.55652650C>T	ENSP00000311656:p.Glu441Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.E441K	ENST00000310958.6	37	c.1321	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261920	0.80358	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.38722	1.12;1.12	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	T	0.59658	-0.7413	10	0.39692	T	0.17	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	441;441;441;297	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	K	441	ENSP00000311656:E441K;ENSP00000403400:E441K	ENSP00000311656:E441K	E	-	1	0	DYX1C1	53439942	1.000000	0.71417	0.980000	0.43619	0.821000	0.46438	7.354000	0.79424	2.854000	0.98071	0.655000	0.94253	GAA	CCPG1	-	NULL	ENSG00000260916		0.413	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	269	0.37	1	C	NM_004748		55652650	55652650	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	missense	216	26.69	79	SNP	1.000	T
CCR2	729230	genome.wustl.edu	37	3	46399052	46399052	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:46399052A>C	ENST00000400888.2	+	1	73	c.34A>C	c.(34-36)Aat>Cat	p.N12H	CCR2_ENST00000445132.2_Missense_Mutation_p.N12H|CCR2_ENST00000292301.4_Missense_Mutation_p.N12H|CCR2_ENST00000465202.1_Intron			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	12					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTTTATCAGAAATACCAACGA	0.438																																						dbGAP											0													192.0	168.0	175.0					3																	46399052		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.34A>C	3.37:g.46399052A>C	ENSP00000383681:p.Asn12His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2	p.N12H	ENST00000400888.2	37	c.34	CCDS43078.1	3	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301306	0.40694	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.69561	-0.41;-0.39;1.26;-0.39	5.01	-3.33	0.04958	.	3.747070	0.00575	N	0.000301	T	0.50786	0.1636	N	0.24115	0.695	0.09310	N	1	P;P	0.51653	0.947;0.877	P;B	0.44561	0.453;0.365	T	0.49123	-0.8972	10	0.46703	T	0.11	.	2.3711	0.04331	0.3824:0.1609:0.3448:0.1119	.	12;12	P41597;Q4VBL2	CCR2_HUMAN;.	H	12	ENSP00000399285:N12H;ENSP00000292301:N12H;ENSP00000396736:N12H;ENSP00000383681:N12H	ENSP00000292301:N12H	N	+	1	0	CCR2	46374056	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.370000	0.20433	-0.236000	0.09753	-0.417000	0.06048	AAT	CCR2	-	prints_Chemokine_CCR2	ENSG00000121807		0.438	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	532	0.00	0	A	NM_000647		46399052	46399052	+1	no_errors	ENST00000292301	ensembl	human	known	69_37n	missense	438	15.12	78	SNP	0.000	C
CCR2	729230	genome.wustl.edu	37	3	46399831	46399831	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:46399831C>A	ENST00000400888.2	+	1	852	c.813C>A	c.(811-813)ttC>ttA	p.F271L	CCR2_ENST00000445132.2_Missense_Mutation_p.F271L|CCR2_ENST00000292301.4_Missense_Mutation_p.F271L|CCR2_ENST00000465202.1_3'UTR			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	271					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCCAGGAATTCTTCGGCCTGA	0.473																																						dbGAP											0													152.0	140.0	144.0					3																	46399831		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.813C>A	3.37:g.46399831C>A	ENSP00000383681:p.Phe271Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2	p.F271L	ENST00000400888.2	37	c.813	CCDS43078.1	3	.	.	.	.	.	.	.	.	.	.	C	8.429	0.848087	0.17034	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.70749	-0.51;-0.51;-0.51	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.911383	0.09455	N	0.799921	T	0.57388	0.2050	L	0.28274	0.84	0.09310	N	1	B;B	0.20368	0.044;0.005	B;B	0.25405	0.06;0.026	T	0.42882	-0.9425	10	0.20046	T	0.44	.	8.2914	0.31960	0.2269:0.6938:0.0:0.0793	.	271;271	P41597;Q4VBL2	CCR2_HUMAN;.	L	271	ENSP00000399285:F271L;ENSP00000292301:F271L;ENSP00000383681:F271L	ENSP00000292301:F271L	F	+	3	2	CCR2	46374835	0.000000	0.05858	0.332000	0.25469	0.228000	0.25075	0.171000	0.16685	2.464000	0.83262	0.585000	0.79938	TTC	CCR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000121807		0.473	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCR2	HGNC	protein_coding	OTTHUMT00000344292.1	212	0.00	0	C	NM_000647		46399831	46399831	+1	no_errors	ENST00000292301	ensembl	human	known	69_37n	missense	231	16.91	47	SNP	0.004	A
CCT4	10575	genome.wustl.edu	37	2	62100346	62100346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:62100346C>A	ENST00000394440.3	-	9	1296	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	CCT4_ENST00000544185.1_Nonsense_Mutation_p.E184*|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Nonsense_Mutation_p.E278*|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Nonsense_Mutation_p.E304*	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	334					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			CAAATGAATTCAATGTCTTCT	0.289																																						dbGAP											0													95.0	89.0	91.0					2																	62100346		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1000G>T	2.37:g.62100346C>A	ENSP00000377958:p.Glu334*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Nonsense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta	p.E334*	ENST00000394440.3	37	c.1000	CCDS33206.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.262631	0.98732	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.4084	19.9575	0.97228	0.0:1.0:0.0:0.0	.	.	.	.	X	334;304;184;278	.	ENSP00000377958:E334X	E	-	1	0	CCT4	61953850	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.663000	0.83820	2.890000	0.99128	0.650000	0.86243	GAA	CCT4	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_delta	ENSG00000115484		0.289	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT4	HGNC	protein_coding	OTTHUMT00000325548.2	158	0.00	0	C			62100346	62100346	-1	no_errors	ENST00000394440	ensembl	human	known	69_37n	nonsense	94	15.32	17	SNP	1.000	A
CCT8L2	150160	genome.wustl.edu	37	22	17071818	17071818	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:17071818C>A	ENST00000359963.3	-	1	1882	c.1623G>T	c.(1621-1623)aaG>aaT	p.K541N		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	541					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGGGTGTTTCTTTGTCTTCT	0.443																																						dbGAP											0													124.0	115.0	118.0					22																	17071818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1623G>T	22.37:g.17071818C>A	ENSP00000353048:p.Lys541Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1	p.K541N	ENST00000359963.3	37	c.1623	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	c	6.032	0.374283	0.11409	.	.	ENSG00000198445	ENST00000359963	T	0.58210	0.35	1.98	-0.365	0.12549	.	.	.	.	.	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.14227	-1.0480	9	0.38643	T	0.18	-0.0433	2.8059	0.05427	0.0:0.4904:0.3084:0.2012	.	541	Q96SF2	TCPQM_HUMAN	N	541	ENSP00000353048:K541N	ENSP00000353048:K541N	K	-	3	2	CCT8L2	15451818	0.000000	0.05858	0.014000	0.15608	0.047000	0.14425	0.147000	0.16202	0.160000	0.19432	-0.822000	0.03109	AAG	CCT8L2	-	NULL	ENSG00000198445		0.443	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	95	0.00	0	C			17071818	17071818	-1	no_errors	ENST00000359963	ensembl	human	known	69_37n	missense	93	28.46	37	SNP	0.002	A
CCZ1B	221960	genome.wustl.edu	37	7	6859573	6859573	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:6859573C>A	ENST00000316731.8	-	7	1095		c.e7-1		CCZ1B_ENST00000538180.1_Splice_Site	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)							lysosome (GO:0005764)|membrane (GO:0016020)											TTTGCAAATACTGTGGAAAAA	0.323																																						dbGAP											0													79.0	75.0	76.0					7																	6859573		2191	4295	6486	-	-	-	SO:0001630	splice_region_variant	0			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.523-1G>T	7.37:g.6859573C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU45|O95766|Q9UG65|Q9Y359	Splice_Site	SNP	-	e7-1	ENST00000316731.8	37	c.523-1	CCDS5354.1	7	.	.	.	.	.	.	.	.	.	.	C	9.304	1.053918	0.19907	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2352	0.48936	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf28B	6826098	1.000000	0.71417	0.984000	0.44739	0.256000	0.26092	7.251000	0.78297	1.521000	0.48983	0.194000	0.17425	.	CCZ1B	-	-	ENSG00000146574		0.323	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	172	0.00	0	C	NM_198097	Intron	6859573	6859573	-1	no_errors	ENST00000316731	ensembl	human	known	69_37n	splice_site	109	14.84	19	SNP	1.000	A
CCZ1B	221960	genome.wustl.edu	37	7	6864323	6864323	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:6864323T>G	ENST00000316731.8	-	2	738	c.166A>C	c.(166-168)Aat>Cat	p.N56H	CCZ1B_ENST00000538180.1_5'UTR	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	56						lysosome (GO:0005764)|membrane (GO:0016020)											ATCTTCTCATTCTTTTCTACC	0.333																																						dbGAP											0													52.0	53.0	52.0					7																	6864323		2194	4276	6470	-	-	-	SO:0001583	missense	0			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.166A>C	7.37:g.6864323T>G	ENSP00000314544:p.Asn56His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.N56H	ENST00000316731.8	37	c.166	CCDS5354.1	7	.	.	.	.	.	.	.	.	.	.	.	14.63	2.593003	0.46214	.	.	ENSG00000146574	ENST00000316731	.	.	.	2.36	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.70202	0.3197	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.70306	-0.4908	8	0.54805	T	0.06	-26.6202	8.2675	0.31824	0.0:0.0:0.0:1.0	.	56	P86791	CCZ1_HUMAN	H	56	.	ENSP00000314544:N56H	N	-	1	0	C7orf28B	6830848	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.724000	0.68500	1.084000	0.41184	0.163000	0.16589	AAT	CCZ1B	-	pfam_DUF1712_fun	ENSG00000146574		0.333	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	265	0.00	0	T	NM_198097		6864323	6864323	-1	no_errors	ENST00000316731	ensembl	human	known	69_37n	missense	205	12.39	29	SNP	1.000	G
CD109	135228	genome.wustl.edu	37	6	74440235	74440235	+	Missense_Mutation	SNP	C	C	T	rs137899447		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:74440235C>T	ENST00000287097.5	+	4	557	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	CD109_ENST00000422508.2_Intron|CD109_ENST00000437994.2_Missense_Mutation_p.R149C			Q6YHK3	CD109_HUMAN	CD109 molecule	149					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R149C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGTGAAGTTTCGCATTGTTAC	0.373																																						dbGAP											1	Substitution - Missense(1)	lung(1)											93.0	89.0	90.0					6																	74440235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.445C>T	6.37:g.74440235C>T	ENSP00000287097:p.Arg149Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R149C	ENST00000287097.5	37	c.445	CCDS4982.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.79	2.936917	0.52972	.	.	ENSG00000156535	ENST00000437994;ENST00000287097	T;T	0.77489	-1.1;-1.1	4.27	3.39	0.38822	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88930	0.6571	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91568	0.5269	10	0.87932	D	0	.	12.6082	0.56535	0.1676:0.8324:0.0:0.0	.	149;149;149	Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	C	149	ENSP00000388062:R149C;ENSP00000287097:R149C	ENSP00000287097:R149C	R	+	1	0	CD109	74496956	1.000000	0.71417	0.986000	0.45419	0.605000	0.37080	3.440000	0.52886	1.114000	0.41781	0.650000	0.86243	CGC	CD109	-	pfam_A2M_N	ENSG00000156535		0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	156	0.00	0	C	NM_133493		74440235	74440235	+1	no_errors	ENST00000287097	ensembl	human	known	69_37n	missense	126	10.00	14	SNP	1.000	T
CD109	135228	genome.wustl.edu	37	6	74512954	74512954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:74512954G>T	ENST00000287097.5	+	24	3002	c.2890G>T	c.(2890-2892)Gaa>Taa	p.E964*	CD109_ENST00000437994.2_Nonsense_Mutation_p.E964*|CD109_ENST00000422508.2_Nonsense_Mutation_p.E887*|CD109_ENST00000474094.1_3'UTR			Q6YHK3	CD109_HUMAN	CD109 molecule	964					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTACCAGAGAGAACTTCTCTA	0.373																																						dbGAP											0													141.0	129.0	133.0					6																	74512954		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2890G>T	6.37:g.74512954G>T	ENSP00000287097:p.Glu964*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E964*	ENST00000287097.5	37	c.2890	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.178964	0.98691	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	.	.	.	3.86	3.86	0.44501	.	0.060041	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.2846	0.54786	0.0:0.171:0.829:0.0	.	.	.	.	X	964;887;964	.	ENSP00000287097:E964X	E	+	1	0	CD109	74569675	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.706000	0.54830	2.126000	0.65437	0.655000	0.94253	GAA	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.373	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	252	0.00	0	G	NM_133493		74512954	74512954	+1	no_errors	ENST00000287097	ensembl	human	known	69_37n	nonsense	220	13.39	34	SNP	1.000	T
CD180	4064	genome.wustl.edu	37	5	66479699	66479699	+	Missense_Mutation	SNP	C	C	A	rs550559471		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:66479699C>A	ENST00000256447.4	-	3	1129	c.972G>T	c.(970-972)aaG>aaT	p.K324N		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	324					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GAACTAATTTCTTGAGCAAGT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21844	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													105.0	102.0	103.0					5																	66479699		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.972G>T	5.37:g.66479699C>A	ENSP00000256447:p.Lys324Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K324N	ENST00000256447.4	37	c.972	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971457	0.53614	.	.	ENSG00000134061	ENST00000256447	T	0.25749	1.78	4.93	4.06	0.47325	.	0.369709	0.26190	N	0.025803	T	0.37598	0.1009	L	0.50993	1.605	0.35138	D	0.768577	D	0.67145	0.996	P	0.61003	0.882	T	0.49881	-0.8892	10	0.49607	T	0.09	.	9.451	0.38725	0.0:0.8395:0.0:0.1605	.	324	Q99467	CD180_HUMAN	N	324	ENSP00000256447:K324N	ENSP00000256447:K324N	K	-	3	2	CD180	66515455	0.948000	0.32251	1.000000	0.80357	0.735000	0.41995	0.791000	0.26915	1.296000	0.44742	0.650000	0.86243	AAG	CD180	-	NULL	ENSG00000134061		0.448	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	155	0.00	0	C	NM_005582		66479699	66479699	-1	no_errors	ENST00000256447	ensembl	human	known	69_37n	missense	156	10.34	18	SNP	0.991	A
CD19	930	genome.wustl.edu	37	16	28948829	28948829	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:28948829G>A	ENST00000324662.3	+	10	1401	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	CD19_ENST00000538922.1_Missense_Mutation_p.D453N|CD19_ENST00000567541.1_Missense_Mutation_p.D453N			P15391	CD19_HUMAN	CD19 molecule	453					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TGAGGATGAAGACTCCTTCTC	0.587																																						dbGAP											0													91.0	93.0	92.0					16																	28948829		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1357G>A	16.37:g.28948829G>A	ENSP00000313419:p.Asp453Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.D453N	ENST00000324662.3	37	c.1357	CCDS10644.1	16	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299351	0.81136	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.46063	0.88;0.88	4.72	4.72	0.59763	.	0.000000	0.53938	D	0.000054	T	0.50429	0.1615	L	0.29908	0.895	0.36366	D	0.860982	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.914	T	0.60767	-0.7198	10	0.66056	D	0.02	-24.8602	13.5273	0.61603	0.0:0.0:1.0:0.0	.	453;453	F5H635;P15391	.;CD19_HUMAN	N	453;260;453;302	ENSP00000437940:D453N;ENSP00000313419:D453N	ENSP00000313419:D453N	D	+	1	0	CD19	28856330	1.000000	0.71417	0.979000	0.43373	0.727000	0.41649	4.274000	0.58921	2.340000	0.79590	0.462000	0.41574	GAC	CD19	-	NULL	ENSG00000177455		0.587	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	241	0.00	0	G			28948829	28948829	+1	no_errors	ENST00000538922	ensembl	human	known	69_37n	missense	145	13.17	22	SNP	0.987	A
CD1D	912	genome.wustl.edu	37	1	158151448	158151448	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:158151448C>T	ENST00000368171.3	+	3	764	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	89					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GCATATATTTCGGGTTTATCG	0.572																																						dbGAP											0													60.0	64.0	63.0					1																	158151448		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.265C>T	1.37:g.158151448C>T	ENSP00000357153:p.Arg89Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.R89W	ENST00000368171.3	37	c.265	CCDS1173.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.799015	0.31777	.	.	ENSG00000158473	ENST00000368171	T	0.08008	3.14	4.63	-3.05	0.05396	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.367040	0.04874	N	0.446438	T	0.02610	0.0079	L	0.53617	1.68	0.09310	N	1	B	0.24533	0.105	B	0.04013	0.001	T	0.47509	-0.9112	10	0.59425	D	0.04	-1.1863	5.4791	0.16713	0.0:0.2874:0.4229:0.2897	.	89	P15813	CD1D_HUMAN	W	89	ENSP00000357153:R89W	ENSP00000357153:R89W	R	+	1	2	CD1D	156418072	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.019000	0.01442	-0.394000	0.07727	0.655000	0.94253	CGG	CD1D	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158473		0.572	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	93	0.00	0	C	NM_001766		158151448	158151448	+1	no_errors	ENST00000368171	ensembl	human	known	69_37n	missense	31	23.81	10	SNP	0.000	T
CD1E	913	genome.wustl.edu	37	1	158323809	158323809	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:158323809C>T	ENST00000368167.3	+	1	270	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	CD1E_ENST00000368164.3_Missense_Mutation_p.L11F|CD1E_ENST00000368160.3_Missense_Mutation_p.L11F|CD1E_ENST00000368155.3_Missense_Mutation_p.L11F|CD1E_ENST00000368163.3_Missense_Mutation_p.L11F|CD1E_ENST00000368165.3_Missense_Mutation_p.L11F|CD1E_ENST00000452291.2_Missense_Mutation_p.L11F|CD1E_ENST00000444681.2_Missense_Mutation_p.L11F|CD1E_ENST00000368161.3_Missense_Mutation_p.L11F|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368157.1_Missense_Mutation_p.L11F|CD1E_ENST00000368154.1_Missense_Mutation_p.L11F|CD1E_ENST00000368166.3_Missense_Mutation_p.L11F|CD1E_ENST00000368156.1_Missense_Mutation_p.L11F	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	11					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTTCGAGGGTCTCTGCTGTCC	0.527																																						dbGAP											0													91.0	85.0	87.0					1																	158323809		1915	4131	6046	-	-	-	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.31C>T	1.37:g.158323809C>T	ENSP00000357149:p.Leu11Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L11F	ENST00000368167.3	37	c.31	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007566	0.35415	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	4.85;4.43;2.88;3.1;3.12;3.35;0.29;0.44;4.51;3.77;3.31;3.23;0.41	3.28	1.4	0.22301	.	1.452700	0.04937	N	0.458023	T	0.47746	0.1462	L	0.35341	1.055	0.09310	N	1	B;B;B;P;P;P;P;B;B;B;D;P;P;D	0.76494	0.115;0.014;0.206;0.559;0.559;0.587;0.61;0.025;0.001;0.053;0.999;0.844;0.559;0.997	B;B;B;B;B;B;B;B;B;B;D;B;B;D	0.77004	0.021;0.01;0.026;0.192;0.292;0.116;0.178;0.018;0.002;0.032;0.989;0.292;0.192;0.986	T	0.35101	-0.9802	10	0.59425	D	0.04	-6.0393	4.479	0.11757	0.0:0.6375:0.2332:0.1293	.	11;11;11;11;11;11;11;11;11;11;11;11;11;11	B4E057;B4E042;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.	F	11	ENSP00000402906:L11F;ENSP00000357149:L11F;ENSP00000416228:L11F;ENSP00000357147:L11F;ENSP00000357148:L11F;ENSP00000357145:L11F;ENSP00000357146:L11F;ENSP00000357139:L11F;ENSP00000357142:L11F;ENSP00000357143:L11F;ENSP00000357138:L11F;ENSP00000357137:L11F;ENSP00000357136:L11F	ENSP00000357136:L11F	L	+	1	0	CD1E	156590433	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.461000	0.06712	0.394000	0.25230	-0.223000	0.12442	CTC	CD1E	-	NULL	ENSG00000158488		0.527	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	432	0.00	0	C	NM_030893		158323809	158323809	+1	no_errors	ENST00000368167	ensembl	human	known	69_37n	missense	244	21.47	67	SNP	0.001	T
CD200R1	131450	genome.wustl.edu	37	3	112666723	112666723	+	Missense_Mutation	SNP	C	C	T	rs201782143		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:112666723C>T	ENST00000308611.3	-	2	380	c.116G>A	c.(115-117)aGc>aAc	p.S39N	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000440122.2_Missense_Mutation_p.S39N|CD200R1_ENST00000471858.1_Intron	NM_138806.3	NP_620161.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	22					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ATTCTCCTTGCTAGTTTGCAG	0.368																																						dbGAP											0													133.0	123.0	126.0					3																	112666723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000308611.3:c.116G>A	3.37:g.112666723C>T	ENSP00000311035:p.Ser39Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.S39N	ENST00000308611.3	37	c.116	CCDS2969.1	3	.	.	.	.	.	.	.	.	.	.	C	9.223	1.033992	0.19590	.	.	ENSG00000163606	ENST00000308611;ENST00000440122	T;T	0.23147	2.53;1.92	2.72	-5.05	0.02955	.	.	.	.	.	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B	0.24823	0.112;0.021	B;B	0.17722	0.019;0.006	T	0.21690	-1.0238	9	0.37606	T	0.19	.	0.3918	0.00412	0.3189:0.1894:0.2757:0.216	.	39;39	Q8TD46-2;Q8TD46-4	.;.	N	39	ENSP00000311035:S39N;ENSP00000405733:S39N	ENSP00000311035:S39N	S	-	2	0	CD200R1	114149413	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.972000	0.03802	-1.424000	0.01999	0.467000	0.42956	AGC	CD200R1	-	NULL	ENSG00000163606		0.368	CD200R1-001	KNOWN	basic|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354466.1	372	0.00	0	C	NM_138806		112666723	112666723	-1	no_errors	ENST00000308611	ensembl	human	known	69_37n	missense	244	26.28	87	SNP	0.000	T
CD200R1	131450	genome.wustl.edu	37	3	112693688	112693688	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:112693688C>A	ENST00000471858.1	-	1	249	c.17G>T	c.(16-18)aGa>aTa	p.R6I	CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I|CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	6					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.R6I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTAGCAGTTCTCCAAGGGCA	0.468																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											213.0	183.0	193.0					3																	112693688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.17G>T	3.37:g.112693688C>A	ENSP00000418928:p.Arg6Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.R6I	ENST00000471858.1	37	c.17	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467398	0.63625	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.27557	2.17;2.26;1.92;1.66;1.72	5.66	3.46	0.39613	.	0.626729	0.13915	N	0.353946	T	0.23572	0.0570	L	0.41824	1.3	0.32706	N	0.512178	B;P;P;B;B	0.44380	0.121;0.713;0.834;0.261;0.379	B;B;B;B;B	0.41666	0.021;0.234;0.363;0.052;0.111	T	0.34104	-0.9842	10	0.51188	T	0.08	.	4.397	0.11367	0.2371:0.6287:0.0:0.1342	.	6;6;6;6;6	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	6	ENSP00000418928:R6I;ENSP00000311035:R6I;ENSP00000295863:R6I;ENSP00000405733:R6I;ENSP00000418801:R6I	ENSP00000295863:R6I	R	-	2	0	CD200R1	114176378	0.939000	0.31865	0.930000	0.37139	0.998000	0.95712	1.543000	0.36147	1.501000	0.48654	0.655000	0.94253	AGA	CD200R1	-	NULL	ENSG00000163606		0.468	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	1195	0.08	1	C	NM_138806		112693688	112693688	-1	no_errors	ENST00000308611	ensembl	human	known	69_37n	missense	751	27.09	279	SNP	0.713	A
CD22	933	genome.wustl.edu	37	19	35837505	35837505	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:35837505G>T	ENST00000085219.5	+	14	2515	c.2449G>T	c.(2449-2451)Gat>Tat	p.D817Y	CD22_ENST00000270311.6_Missense_Mutation_p.D632Y|CD22_ENST00000594250.1_Missense_Mutation_p.D640Y|CD22_ENST00000419549.2_Missense_Mutation_p.D645Y|CD22_ENST00000536635.2_Missense_Mutation_p.D729Y|CD22_ENST00000341773.6_Missense_Mutation_p.D640Y|CD22_ENST00000544992.2_3'UTR|MIR5196_ENST00000578146.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	817					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTTTCCAGAAGATGAGGGGAT	0.532																																					Ovarian(42;1009 1133 23674 26041)	dbGAP											0													54.0	41.0	45.0					19																	35837505		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2449G>T	19.37:g.35837505G>T	ENSP00000085219:p.Asp817Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D817Y	ENST00000085219.5	37	c.2449	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378211	0.61735	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.60797	0.64;0.23;0.16;0.54;0.73	4.58	4.58	0.56647	.	0.130764	0.34580	N	0.003851	T	0.73869	0.3642	M	0.73962	2.25	0.38036	D	0.935321	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.972;0.992;0.972;0.994	T	0.79320	-0.1852	10	0.87932	D	0	.	12.8196	0.57685	0.0:0.0:1.0:0.0	.	645;729;817;640	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Y	817;729;640;632;645	ENSP00000085219:D817Y;ENSP00000442279:D729Y;ENSP00000339349:D640Y;ENSP00000270311:D632Y;ENSP00000403822:D645Y	ENSP00000085219:D817Y	D	+	1	0	CD22	40529345	0.992000	0.36948	0.278000	0.24718	0.119000	0.20118	4.196000	0.58407	2.410000	0.81850	0.461000	0.40582	GAT	CD22	-	NULL	ENSG00000012124		0.532	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	112	0.00	0	G	NM_001771		35837505	35837505	+1	no_errors	ENST00000085219	ensembl	human	known	69_37n	missense	69	10.39	8	SNP	0.776	T
CD274	29126	genome.wustl.edu	37	9	5463032	5463032	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:5463032G>T	ENST00000381577.3	+	4	679	c.593G>T	c.(592-594)aGa>aTa	p.R198I	CD274_ENST00000498261.1_Intron|CD274_ENST00000381573.4_Missense_Mutation_p.R84I	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	198	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		AGCACACTGAGAATCAACACA	0.433			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		9	9p24	29126	CD274 molecule		L	0													137.0	127.0	130.0					9																	5463032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.593G>T	9.37:g.5463032G>T	ENSP00000370989:p.Arg198Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like	p.R198I	ENST00000381577.3	37	c.593	CCDS6464.1	9	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099737	0.37048	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	T;T	0.76316	-1.01;-1.01	6.08	4.24	0.50183	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.272209	0.34932	N	0.003565	D	0.83894	0.5353	M	0.77616	2.38	0.31514	N	0.663247	D;P	0.76494	0.999;0.853	P;P	0.62740	0.906;0.451	D	0.83907	0.0293	10	0.87932	D	0	-28.0583	5.4445	0.16527	0.0756:0.1414:0.6365:0.1465	.	84;198	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	I	84;198	ENSP00000370985:R84I;ENSP00000370989:R198I	ENSP00000370985:R84I	R	+	2	0	CD274	5453032	0.238000	0.23825	0.083000	0.20561	0.268000	0.26511	1.512000	0.35812	0.893000	0.36288	-0.181000	0.13052	AGA	CD274	-	pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000120217		0.433	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD274	HGNC	protein_coding	OTTHUMT00000051631.2	275	0.00	0	G	NM_014143		5463032	5463032	+1	no_errors	ENST00000381577	ensembl	human	known	69_37n	missense	204	15.00	36	SNP	0.286	T
CD2AP	23607	genome.wustl.edu	37	6	47471170	47471170	+	Silent	SNP	C	C	T	rs551729252	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:47471170C>T	ENST00000359314.5	+	2	615	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	53	Interaction with ANLN and localization to the midbody.|SH3 1; truncated. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTGACAATTTCGTTAAGGTAA	0.328													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16156	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.159C>T	6.37:g.47471170C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL34|Q5VYA3|Q9UG97	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.F53	ENST00000359314.5	37	c.159	CCDS34472.1	6																																																																																			CD2AP	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000198087		0.328	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2AP	HGNC	protein_coding	OTTHUMT00000040817.2	206	0.00	0	C			47471170	47471170	+1	no_errors	ENST00000359314	ensembl	human	known	69_37n	silent	111	15.91	21	SNP	1.000	T
CD300LG	146894	genome.wustl.edu	37	17	41926056	41926056	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:41926056C>T	ENST00000317310.4	+	2	215	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CD300LG_ENST00000588884.1_Silent_p.F58F|CD300LG_ENST00000377203.4_Silent_p.F58F|CD300LG_ENST00000586233.1_Silent_p.F58F|CD300LG_ENST00000293396.8_Silent_p.F58F|CD300LG_ENST00000539718.1_Silent_p.F58F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	58	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGATCCTCTTCTCTCGCTGCT	0.592																																						dbGAP											0													90.0	74.0	80.0					17																	41926056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.174C>T	17.37:g.41926056C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.F58	ENST00000317310.4	37	c.174	CCDS11470.1	17																																																																																			CD300LG	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000161649		0.592	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	53	0.00	0	C	NM_145273		41926056	41926056	+1	no_errors	ENST00000317310	ensembl	human	known	69_37n	silent	49	12.50	7	SNP	0.000	T
CD300LF	146722	genome.wustl.edu	37	17	72699223	72699223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:72699223C>A	ENST00000326165.6	-	3	508	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CD300LF_ENST00000361254.4_Nonsense_Mutation_p.E151*|CD300LF_ENST00000581500.1_Nonsense_Mutation_p.E151*|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Nonsense_Mutation_p.E136*|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.E148*|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.E136*|CD300LF_ENST00000301573.9_Nonsense_Mutation_p.E133*|CD300LF_ENST00000469092.1_Nonsense_Mutation_p.E136*	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	133					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTAGTTTCTTCTTGGGTGACT	0.547																																						dbGAP											0													214.0	173.0	187.0					17																	72699223		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.397G>T	17.37:g.72699223C>A	ENSP00000327075:p.Glu133*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E133*	ENST00000326165.6	37	c.397	CCDS11704.1	17	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677422	0.47886	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	.	.	.	4.45	-2.8	0.05823	.	1.536220	0.04206	N	0.330806	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.312	0.15835	0.0:0.2714:0.1657:0.5628	.	.	.	.	X	133;151;136;133	.	ENSP00000301573:E133X	E	-	1	0	CD300LF	70210818	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.255000	0.08769	-0.325000	0.08577	0.655000	0.94253	GAA	CD300LF	-	NULL	ENSG00000186074		0.547	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD300LF	HGNC	protein_coding	OTTHUMT00000145085.1	566	0.00	0	C	NM_139018		72699223	72699223	-1	no_errors	ENST00000326165	ensembl	human	known	69_37n	nonsense	366	11.57	48	SNP	0.000	A
CD33	945	genome.wustl.edu	37	19	51742871	51742871	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:51742871T>A	ENST00000262262.4	+	7	1044	c.1023T>A	c.(1021-1023)gcT>gcA	p.A341A	CD33_ENST00000421133.2_Silent_p.A214A|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	341					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGCATTATGCTTCCCTCAACT	0.522																																						dbGAP											0													128.0	107.0	114.0					19																	51742871		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.1023T>A	19.37:g.51742871T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.A341	ENST00000262262.4	37	c.1023	CCDS33084.1	19																																																																																			CD33	-	NULL	ENSG00000105383		0.522	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	HGNC	protein_coding	OTTHUMT00000464199.2	669	0.00	0	T	NM_001772		51742871	51742871	+1	no_errors	ENST00000262262	ensembl	human	known	69_37n	silent	639	11.72	85	SNP	0.037	A
CD38	952	genome.wustl.edu	37	4	15826615	15826615	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:15826615T>G	ENST00000226279.3	+	3	612	c.475T>G	c.(475-477)Tgg>Ggg	p.W159G		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	159					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TGACCTCACATGGTGTGGTGA	0.552																																						dbGAP											0													83.0	65.0	71.0					4																	15826615		2202	4300	6502	-	-	-	SO:0001583	missense	0			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.475T>G	4.37:g.15826615T>G	ENSP00000226279:p.Trp159Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00121|O00122|Q96HY4	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.W159G	ENST00000226279.3	37	c.475	CCDS3417.1	4	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490050	0.44249	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.63580	-0.05;-0.05	5.35	5.35	0.76521	.	0.115630	0.64402	D	0.000006	T	0.81088	0.4750	M	0.88310	2.945	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84495	0.0613	10	0.87932	D	0	-21.4823	11.7313	0.51739	0.0:0.0:0.0:1.0	.	159;159	P28907;B2R880	CD38_HUMAN;.	G	159;53	ENSP00000226279:W159G;ENSP00000423047:W53G	ENSP00000226279:W159G	W	+	1	0	CD38	15435713	0.998000	0.40836	0.907000	0.35723	0.199000	0.23934	4.151000	0.58105	2.033000	0.60031	0.459000	0.35465	TGG	CD38	-	pfam_ADP-ribosyl_cyclase	ENSG00000004468		0.552	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD38	HGNC	protein_coding	OTTHUMT00000250322.2	410	0.00	0	T	NM_001775		15826615	15826615	+1	no_errors	ENST00000226279	ensembl	human	known	69_37n	missense	214	22.46	62	SNP	0.959	G
CD46	4179	genome.wustl.edu	37	1	207925531	207925531	+	5'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207925531G>T	ENST00000358170.2	+	0	130				CD46_ENST00000322875.4_5'UTR|CD46_ENST00000367042.1_5'UTR|CD46_ENST00000480003.1_5'UTR|CD46_ENST00000354848.1_5'UTR|CD46_ENST00000441839.2_5'UTR|CD46_ENST00000357714.1_5'UTR|CD46_ENST00000367047.1_5'UTR|CD46_ENST00000322918.5_5'UTR|CD46_ENST00000361067.1_5'UTR|CD46_ENST00000360212.2_5'UTR|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367041.1_5'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTCCTCCGGAGAAATAACAGC	0.607																																						dbGAP											0													123.0	144.0	137.0					1																	207925531		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.-27G>T	1.37:g.207925531G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	RNA	SNP	-	NULL	ENST00000358170.2	37	NULL	CCDS1485.1	1																																																																																			CD46	-	-	ENSG00000117335		0.607	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	53	0.00	0	G	NM_172361		207925531	207925531	+1	no_errors	ENST00000469535	ensembl	human	known	69_37n	rna	23	39.47	15	SNP	0.000	T
CD47	961	genome.wustl.edu	37	3	107798856	107798856	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:107798856C>T	ENST00000361309.5	-	2	487	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CD47_ENST00000355354.7_Missense_Mutation_p.E128K	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	128					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			TATTTTAGCTCGATGATCGTT	0.413																																						dbGAP											0													212.0	186.0	194.0					3																	107798856		1872	4113	5985	-	-	-	SO:0001583	missense	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.382G>A	3.37:g.107798856C>T	ENSP00000355361:p.Glu128Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	Missense_Mutation	SNP	pfam_CD47_Vset,pfam_CD47_TM,pfscan_Ig-like	p.E128K	ENST00000361309.5	37	c.382	CCDS43126.1	3	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485329	0.26598	.	.	ENSG00000196776	ENST00000355354;ENST00000361309	T;T	0.02787	4.16;4.16	6.04	5.16	0.70880	CD47 immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228496	0.38897	N	0.001523	T	0.06781	0.0173	L	0.46157	1.445	0.24947	N	0.991815	D;D;D;D	0.69078	0.996;0.996;0.997;0.997	P;P;P;P	0.51918	0.556;0.556;0.684;0.684	T	0.21348	-1.0248	10	0.37606	T	0.19	.	14.7495	0.69513	0.0:0.8558:0.1442:0.0	.	128;128;128;128	Q08722-2;Q08722-3;E9PB22;Q08722	.;.;.;CD47_HUMAN	K	128	ENSP00000347512:E128K;ENSP00000355361:E128K	ENSP00000347512:E128K	E	-	1	0	CD47	109281546	0.990000	0.36364	0.211000	0.23655	0.025000	0.11179	3.078000	0.50096	1.560000	0.49568	0.561000	0.74099	GAG	CD47	-	pfam_CD47_Vset	ENSG00000196776		0.413	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	468	0.42	2	C	NM_001777		107798856	107798856	-1	no_errors	ENST00000361309	ensembl	human	known	69_37n	missense	351	25.79	122	SNP	0.434	T
CD48	962	genome.wustl.edu	37	1	160654720	160654720	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160654720C>A	ENST00000368046.3	-	2	429	c.342G>T	c.(340-342)aaG>aaT	p.K114N	RP11-404F10.2_ENST00000598917.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.K114N|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	114	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATTCCCAGTCTTTTTCAACA	0.507																																						dbGAP											0													211.0	204.0	206.0					1																	160654720		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.342G>T	1.37:g.160654720C>A	ENSP00000357025:p.Lys114Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U055|Q8MGR0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.K114N	ENST00000368046.3	37	c.342	CCDS1208.1	1	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660831	0.14645	.	.	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.65549	-0.16;-0.16	3.75	-4.77	0.03219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.459740	0.00760	N	0.001121	T	0.23133	0.0559	L	0.32530	0.975	0.09310	N	1	B;B;B	0.14012	0.001;0.005;0.009	B;B;B	0.24006	0.003;0.045;0.05	T	0.07947	-1.0746	10	0.24483	T	0.36	-5.5988	4.0513	0.09796	0.1176:0.2217:0.4927:0.168	.	114;114;114	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	N	114	ENSP00000357025:K114N;ENSP00000357024:K114N	ENSP00000357024:K114N	K	-	3	2	CD48	158921344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.293000	0.01145	-1.068000	0.03156	-0.518000	0.04402	AAG	CD48	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000117091		0.507	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	HGNC	protein_coding	OTTHUMT00000060471.1	181	0.00	0	C	NM_001778		160654720	160654720	-1	no_errors	ENST00000368046	ensembl	human	known	69_37n	missense	129	10.42	15	SNP	0.000	A
CD58	965	genome.wustl.edu	37	1	117057435	117057435	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:117057435T>C	ENST00000369489.5	-	6	819	c.753A>G	c.(751-753)tgA>tgG	p.*251W		NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	0					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		CTGTTACCAATCAATTGGAGC	0.303																																						dbGAP											0													47.0	49.0	48.0					1																	117057435		2200	4298	6498	-	-	-	SO:0001578	stop_lost	0			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.753A>G	1.37:g.117057435T>C	ENSP00000358501:p.*251Cysext*15	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7G5|Q5U053|Q6IB65|Q96KI9	Nonstop_Mutation	SNP	NULL	p.*251W	ENST00000369489.5	37	c.753	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	T	0.082	-1.181751	0.01633	.	.	ENSG00000116815	ENST00000369489	.	.	.	2.43	-3.78	0.04333	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.8	0.05412	0.4173:0.314:0.0:0.2687	.	.	.	.	W	251	.	.	X	-	3	0	CD58	116858958	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.753000	0.04792	-0.920000	0.03799	-0.366000	0.07423	TGA	CD58	-	NULL	ENSG00000116815		0.303	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD58	HGNC	protein_coding	OTTHUMT00000059036.1	421	0.00	0	T	NM_001779		117057435	117057435	-1	no_errors	ENST00000369489	ensembl	human	known	69_37n	nonstop	263	26.26	94	SNP	0.000	C
CD55	1604	genome.wustl.edu	37	1	207498023	207498023	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207498023G>T	ENST00000367064.3	+	3	664	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	CD55_ENST00000367062.4_Nonsense_Mutation_p.E136*|CD55_ENST00000367065.5_Nonsense_Mutation_p.E136*|CD55_ENST00000391920.4_Nonsense_Mutation_p.E136*|CD55_ENST00000367067.4_Missense_Mutation_p.R107I|CD55_ENST00000391921.4_Intron|CD55_ENST00000314754.8_Nonsense_Mutation_p.E136*|CD55_ENST00000367063.2_Nonsense_Mutation_p.E136*|CD55_ENST00000465534.1_3'UTR	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	136	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TTACAGAAGAGAACCTTCTCT	0.363																																						dbGAP											0													106.0	106.0	106.0					1																	207498023		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.406G>T	1.37:g.207498023G>T	ENSP00000356031:p.Glu136*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E136*	ENST00000367064.3	37	c.406	CCDS31006.1	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.7|22.7|22.7	4.326828|4.326828|4.326828	0.81690|0.81690|0.81690	.|.|.	.|.|.	ENSG00000196352|ENSG00000196352|ENSG00000196352	ENST00000343420|ENST00000367064;ENST00000367063;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062|ENST00000367067	.|.|T	.|.|0.03745	.|.|3.82	6.16|6.16|6.16	-2.72|-2.72|-2.72	0.05968|0.05968|0.05968	.|.|.	2.101430|2.101430|.	0.01788|0.01788|.	N|N|.	0.032172|0.032172|.	T|.|T	0.03915|.|0.03915	0.0110|.|0.0110	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.40590|.|0.40590	-0.9555|.|-0.9555	5|.|6	.|0.06099|0.62326	.|T|D	.|0.92|0.03	.|.|.	2.8217|2.8217|2.8217	0.05473|0.05473|0.05473	0.4799:0.1187:0.2799:0.1215|0.4799:0.1187:0.2799:0.1215|0.4799:0.1187:0.2799:0.1215	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	145|136|107	.|.|ENSP00000356034:R107I	.|ENSP00000316333:E136X|ENSP00000356034:R107I	E|E|R	+|+|+	3|1|2	2|0|0	CD55|CD55|CD55	205564646|205564646|205564646	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.000000|0.000000|0.000000	0.03702|0.03702|0.03702	0.020000|0.020000|0.020000	0.10135|0.10135|0.10135	-1.411000|-1.411000|-1.411000	0.02478|0.02478|0.02478	-0.537000|-0.537000|-0.537000	0.06290|0.06290|0.06290	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GAA|AGA	CD55	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000196352		0.363	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	HGNC	protein_coding	OTTHUMT00000088208.2	181	0.00	0	G	NM_000574		207498023	207498023	+1	no_errors	ENST00000314754	ensembl	human	known	69_37n	nonsense	111	15.27	20	SNP	0.000	T
CD59	966	genome.wustl.edu	37	11	33731767	33731767	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:33731767C>T	ENST00000395850.3	-	4	367	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CD59_ENST00000445143.2_Missense_Mutation_p.E98K|CD59_ENST00000534312.1_Missense_Mutation_p.E98K|CD59_ENST00000415002.2_Missense_Mutation_p.E98K|CD59_ENST00000533403.1_3'UTR|CD59_ENST00000437761.2_Missense_Mutation_p.E98K|CD59_ENST00000426650.2_Missense_Mutation_p.E98K|CD59_ENST00000351554.3_Missense_Mutation_p.E98K|CD59_ENST00000528700.1_Missense_Mutation_p.E98K|CD59_ENST00000527577.1_Missense_Mutation_p.E98K	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	98	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						TCAAGCTGTTCGTTAAAGTTA	0.458																																						dbGAP											0													174.0	136.0	149.0					11																	33731767		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.292G>A	11.37:g.33731767C>T	ENSP00000379191:p.Glu98Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.E98K	ENST00000395850.3	37	c.292	CCDS7886.1	11	.	.	.	.	.	.	.	.	.	.	C	5.154	0.214048	0.09810	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;T;T;T;T;T;T;T;T	0.92545	-3.06;-3.06;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	1.95	-3.19	0.05171	Ly-6 antigen / uPA receptor -like (1);	.	.	.	.	T	0.81322	0.4798	L	0.27053	0.805	0.09310	N	1	B	0.17465	0.022	B	0.04013	0.001	T	0.64918	-0.6294	9	0.30078	T	0.28	.	1.641	0.02752	0.1952:0.2774:0.3856:0.1418	.	98	P13987	CD59_HUMAN	K	98	ENSP00000432362:E98K;ENSP00000437122:E98K;ENSP00000379191:E98K;ENSP00000340210:E98K;ENSP00000404822:E98K;ENSP00000403511:E98K;ENSP00000402425:E98K;ENSP00000410182:E98K;ENSP00000432942:E98K;ENSP00000434617:E98K	ENSP00000340210:E98K	E	-	1	0	CD59	33688343	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.357000	0.07651	-0.850000	0.04152	-0.379000	0.06801	GAA	CD59	-	smart_LY6_UPA_recep-like	ENSG00000085063		0.458	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CD59	HGNC	protein_coding	OTTHUMT00000388809.1	122	0.00	0	C	NM_203329		33731767	33731767	-1	no_errors	ENST00000351554	ensembl	human	known	69_37n	missense	86	30.08	37	SNP	0.000	T
CD63	967	genome.wustl.edu	37	12	56119613	56119613	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:56119613C>A	ENST00000549117.1	-	7	1071	c.635G>T	c.(634-636)gGa>gTa	p.G212V	CD63_ENST00000552067.1_Missense_Mutation_p.G119V|CD63_ENST00000552754.1_Missense_Mutation_p.G189V|CD63_ENST00000548160.1_Missense_Mutation_p.G119V|CD63_ENST00000552692.1_Missense_Mutation_p.G212V|CD63_ENST00000420846.3_Missense_Mutation_p.G212V|CD63_ENST00000257857.4_Missense_Mutation_p.G212V|CD63_ENST00000550776.1_Missense_Mutation_p.G130V|CD63_ENST00000548898.1_Missense_Mutation_p.G119V|CD63_ENST00000546939.1_Missense_Mutation_p.G130V	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	212					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AAAAGCAATTCCAAGGGCTGC	0.582																																					Pancreas(123;1459 1747 6717 18841 37380)	dbGAP											0													57.0	53.0	54.0					12																	56119613		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.635G>T	12.37:g.56119613C>A	ENSP00000447730:p.Gly212Val	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G212V	ENST00000549117.1	37	c.635	CCDS8890.1	12	.	.	.	.	.	.	.	.	.	.	C	5.996	0.367766	0.11352	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	4.52	3.63	0.41609	.	0.060473	0.64402	D	0.000005	T	0.75027	0.3794	L	0.49350	1.555	0.80722	D	1	P;P;P	0.44090	0.826;0.484;0.566	B;B;B	0.42625	0.225;0.204;0.393	T	0.72896	-0.4153	10	0.34782	T	0.22	.	10.5846	0.45275	0.0:0.9052:0.0:0.0948	.	189;212;212	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	V	119;119;212;119;130;212;212;212;189;130;212;212	ENSP00000447938:G119V;ENSP00000449684:G119V;ENSP00000393502:G212V;ENSP00000449654:G119V;ENSP00000447356:G130V;ENSP00000449337:G212V;ENSP00000447730:G212V;ENSP00000257857:G212V;ENSP00000446807:G189V;ENSP00000448091:G130V;ENSP00000449281:G212V;ENSP00000446752:G212V	ENSP00000257857:G212V	G	-	2	0	CD63	54405880	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.111000	0.57838	1.281000	0.44480	-0.229000	0.12294	GGA	CD63	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000135404		0.582	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1	54	0.00	0	C			56119613	56119613	-1	no_errors	ENST00000257857	ensembl	human	known	69_37n	missense	35	36.36	20	SNP	1.000	A
CD63	967	genome.wustl.edu	37	12	56119669	56119669	+	Missense_Mutation	SNP	C	C	A	rs3190232		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:56119669C>A	ENST00000549117.1	-	7	1015	c.579G>T	c.(577-579)gaG>gaT	p.E193D	CD63_ENST00000552067.1_Missense_Mutation_p.E100D|CD63_ENST00000552754.1_Missense_Mutation_p.E170D|CD63_ENST00000548160.1_Missense_Mutation_p.E100D|CD63_ENST00000552692.1_Missense_Mutation_p.E193D|CD63_ENST00000420846.3_Missense_Mutation_p.E193D|CD63_ENST00000257857.4_Missense_Mutation_p.E193D|CD63_ENST00000550776.1_Missense_Mutation_p.E111D|CD63_ENST00000548898.1_Missense_Mutation_p.E100D|CD63_ENST00000546939.1_Missense_Mutation_p.E111D	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	193					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCCCAATCTTCTCCACACAGC	0.562																																					Pancreas(123;1459 1747 6717 18841 37380)	dbGAP											0													48.0	44.0	45.0					12																	56119669		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.579G>T	12.37:g.56119669C>A	ENSP00000447730:p.Glu193Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E193D	ENST00000549117.1	37	c.579	CCDS8890.1	12	.	.	.	.	.	.	.	.	.	.	C	7.472	0.646955	0.14516	.	.	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173	T;T;T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.52	2.63	0.31362	Tetraspanin, EC2 domain (1);	0.539075	0.20279	N	0.095489	T	0.61627	0.2362	L	0.28649	0.875	0.29127	N	0.879915	B;B;B	0.26809	0.16;0.001;0.001	B;B;B	0.19666	0.026;0.01;0.01	T	0.46233	-0.9206	10	0.12430	T	0.62	.	3.6015	0.08026	0.171:0.5705:0.1659:0.0927	.	170;193;193	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	D	100;100;193;100;111;193;193;193;170;111;193;193	ENSP00000447938:E100D;ENSP00000449684:E100D;ENSP00000393502:E193D;ENSP00000449654:E100D;ENSP00000447356:E111D;ENSP00000449337:E193D;ENSP00000447730:E193D;ENSP00000257857:E193D;ENSP00000446807:E170D;ENSP00000448091:E111D;ENSP00000449281:E193D;ENSP00000446752:E193D	ENSP00000257857:E193D	E	-	3	2	CD63	54405936	0.005000	0.15991	0.885000	0.34714	0.928000	0.56348	0.544000	0.23253	0.615000	0.30124	-0.282000	0.10007	GAG	CD63	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000135404		0.562	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1	65	0.00	0	C			56119669	56119669	-1	no_errors	ENST00000257857	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	0.957	A
CD79B	974	genome.wustl.edu	37	17	62006622	62006622	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:62006622C>A	ENST00000006750.3	-	6	746	c.654G>T	c.(652-654)gtG>gtT	p.V218V	CD79B_ENST00000392795.3_Silent_p.V219V|CD79B_ENST00000349817.2_Silent_p.V114V	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	218					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CAGACCACTTCACTTCCCCTG	0.617			"""Mis, O"""		DLBCL																																	dbGAP		Dom	yes		17	17q23	974	"""CD79b molecule, immunoglobulin-associated beta"""		L	0													158.0	139.0	145.0					17																	62006622		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.654G>T	17.37:g.62006622C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FS2|Q9BU06	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like	p.V219	ENST00000006750.3	37	c.657	CCDS11655.1	17																																																																																			CD79B	-	NULL	ENSG00000007312		0.617	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79B	HGNC	protein_coding	OTTHUMT00000417711.1	92	0.00	0	C			62006622	62006622	-1	no_errors	ENST00000392795	ensembl	human	known	69_37n	silent	54	12.90	8	SNP	0.992	A
CD84	8832	genome.wustl.edu	37	1	160523176	160523176	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160523176C>A	ENST00000311224.4	-	4	818	c.752G>T	c.(751-753)aGa>aTa	p.R251I	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Missense_Mutation_p.R251I|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000534968.1_Missense_Mutation_p.R137I|CD84_ENST00000368051.3_Missense_Mutation_p.R251I|CD84_ENST00000368054.3_Missense_Mutation_p.R251I	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	251					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACCTTGTCTTCTCTTGAACAA	0.468																																						dbGAP											0													81.0	81.0	81.0					1																	160523176		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.752G>T	1.37:g.160523176C>A	ENSP00000312367:p.Arg251Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.R251I	ENST00000311224.4	37	c.752	CCDS53396.1	1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893250	0.52121	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056	T;T;T;T;T;T	0.56776	0.75;0.75;0.44;0.44;0.8;0.44	4.93	0.757	0.18427	.	4.576480	0.00841	N	0.001744	T	0.54208	0.1844	L	0.58101	1.795	0.38237	D	0.941204	P;D;D;D;D;D	0.89917	0.496;1.0;0.98;0.985;0.991;0.989	B;D;P;P;D;P	0.85130	0.178;0.997;0.837;0.823;0.914;0.885	T	0.48843	-0.8999	10	0.87932	D	0	-12.1281	3.3541	0.07163	0.1813:0.5302:0.0:0.2886	.	251;251;137;251;251;251	Q9UIB8-5;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	I	137;251;251;251;251;251	ENSP00000442845:R137I;ENSP00000357033:R251I;ENSP00000357027:R251I;ENSP00000312367:R251I;ENSP00000357030:R251I;ENSP00000353163:R251I	ENSP00000312367:R251I	R	-	2	0	CD84	158789800	0.007000	0.16637	0.261000	0.24466	0.682000	0.39822	-0.313000	0.08103	0.368000	0.24481	0.650000	0.86243	AGA	CD84	-	NULL	ENSG00000066294		0.468	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	HGNC	protein_coding	OTTHUMT00000059092.1	214	0.00	0	C	NM_003874		160523176	160523176	-1	no_errors	ENST00000311224	ensembl	human	known	69_37n	missense	131	18.12	29	SNP	0.462	A
CD99L2	83692	genome.wustl.edu	37	X	149984799	149984799	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:149984799G>T	ENST00000370377.3	-	3	248				CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2						cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCACATGTGACCTGGTGAT	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.131-248C>A	X.37:g.149984799G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	RNA	SNP	-	NULL	ENST00000370377.3	37	NULL	CCDS35427.1	X																																																																																			CD99L2	-	-	ENSG00000102181		0.498	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	40	0.00	0	G	NM_031462		149984799	149984799	-1	no_errors	ENST00000491877	ensembl	human	known	69_37n	rna	30	46.43	26	SNP	0.002	T
CDC123	8872	genome.wustl.edu	37	10	12280463	12280463	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:12280463C>T	ENST00000281141.4	+	10	976	c.696C>T	c.(694-696)ttC>ttT	p.F232F	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Silent_p.F191F	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	232					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)		p.F232F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CAGTTGTGTTCGATATATACA	0.299																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											82.0	85.0	84.0					10																	12280463		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.696C>T	10.37:g.12280463C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Nonsense_Mutation	SNP	pfam_D123	p.R86*	ENST00000281141.4	37	c.256	CCDS7090.1	10	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910721	0.17833	.	.	ENSG00000151465	ENST00000440613	.	.	.	5.7	-6.42	0.01932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.1401	17.3932	0.87439	0.0:0.1429:0.0:0.8571	.	.	.	.	X	86	.	.	R	+	1	2	CDC123	12320469	0.775000	0.28604	0.669000	0.29828	0.952000	0.60782	-0.436000	0.06922	-1.194000	0.02684	-0.194000	0.12790	CGA	CDC123	-	pfam_D123	ENSG00000151465		0.299	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	234	0.00	0	C	NM_006023		12280463	12280463	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440613	ensembl	human	known	69_37n	nonsense	196	10.50	23	SNP	0.614	T
CDC16	8881	genome.wustl.edu	37	13	115037883	115037883	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:115037883A>C	ENST00000356221.3	+	18	1936	c.1828A>C	c.(1828-1830)Atg>Ctg	p.M610L	CDC16_ENST00000360383.3_Missense_Mutation_p.M610L|CDC16_ENST00000375308.1_Missense_Mutation_p.M516L|MIR4502_ENST00000580432.1_RNA|CDC16_ENST00000252457.5_Missense_Mutation_p.M609L|CDC16_ENST00000375312.3_Missense_Mutation_p.M465L|CDC16_ENST00000375310.1_Missense_Mutation_p.M516L|CDC16_ENST00000252458.6_Missense_Mutation_p.M465L|CDC16_ENST00000461716.1_3'UTR			Q13042	CDC16_HUMAN	cell division cycle 16	610					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAGTGACATGATGTTAGAGAC	0.458																																						dbGAP											0													60.0	61.0	60.0					13																	115037883		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1828A>C	13.37:g.115037883A>C	ENSP00000348554:p.Met610Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M610L	ENST00000356221.3	37	c.1828	CCDS9542.2	13	.	.	.	.	.	.	.	.	.	.	A	18.50	3.637344	0.67130	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	.	.	.	5.83	3.41	0.39046	.	0.090110	0.85682	D	0.000000	T	0.53642	0.1809	N	0.24115	0.695	0.80722	D	1	B;B;B	0.29805	0.015;0.257;0.167	B;P;B	0.47786	0.005;0.557;0.354	T	0.44019	-0.9355	8	.	.	.	-20.5872	10.1606	0.42849	0.8671:0.0:0.1329:0.0	.	558;609;610	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	L	610;465;610;516;609;516;465	.	.	M	+	1	0	CDC16	114055985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.259000	0.89855	0.476000	0.27440	0.460000	0.39030	ATG	CDC16	-	NULL	ENSG00000130177		0.458	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1	151	0.00	0	A	NM_003903		115037883	115037883	+1	no_errors	ENST00000356221	ensembl	human	known	69_37n	missense	94	25.40	32	SNP	1.000	C
CDC27	996	genome.wustl.edu	37	17	45201281	45201281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:45201281C>A	ENST00000066544.3	-	17	2299	c.2206G>T	c.(2206-2208)Gaa>Taa	p.E736*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.E675*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.E735*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.E742*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	736					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.E736*(2)|p.E742*(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACGAGGGATTCTTTGGGAACA	0.318																																						dbGAP											3	Substitution - Nonsense(3)	large_intestine(3)											61.0	63.0	62.0					17																	45201281		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2206G>T	17.37:g.45201281C>A	ENSP00000066544:p.Glu736*	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E742*	ENST00000066544.3	37	c.2224	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	C	41	9.133443	0.99077	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	2.1357	16.524	0.84326	0.0:1.0:0.0:0.0	.	.	.	.	X	736;742;675;735	.	ENSP00000066544:E736X	E	-	1	0	CDC27	42556280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.497000	0.84241	0.557000	0.71058	GAA	CDC27	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	184	0.00	0	C			45201281	45201281	-1	no_errors	ENST00000531206	ensembl	human	known	69_37n	nonsense	146	16.57	29	SNP	1.000	A
CDC27	996	genome.wustl.edu	37	17	45235659	45235659	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:45235659G>A	ENST00000066544.3	-	5	481	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CDC27_ENST00000446365.2_Missense_Mutation_p.R69W|CDC27_ENST00000527547.1_Missense_Mutation_p.R130W|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.R130W|RP5-867C24.4_ENST00000574021.1_RNA	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGGCAAGCCGATCTGTCTTG	0.368																																						dbGAP											0													34.0	36.0	35.0					17																	45235659		2203	4300	6503	-	-	-	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.388C>T	17.37:g.45235659G>A	ENSP00000066544:p.Arg130Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R130W	ENST00000066544.3	37	c.388	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905818	0.92107	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;D	0.89746	-0.19;-0.19;-0.19;-0.19;-2.56	5.49	5.49	0.81192	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.116735	0.64402	D	0.000013	D	0.94178	0.8132	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.995;0.996	D	0.94601	0.7796	10	0.87932	D	0	-20.8961	16.8625	0.86021	0.0:0.0:1.0:0.0	.	69;130;130;130	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	W	130;130;69;130;130	ENSP00000066544:R130W;ENSP00000434614:R130W;ENSP00000392802:R69W;ENSP00000437339:R130W;ENSP00000432105:R130W	ENSP00000066544:R130W	R	-	1	2	CDC27	42590658	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.838000	0.75359	2.582000	0.87167	0.460000	0.39030	CGG	CDC27	-	smart_TPR_repeat	ENSG00000004897		0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	108	0.00	0	G			45235659	45235659	-1	no_errors	ENST00000531206	ensembl	human	known	69_37n	missense	43	35.82	24	SNP	1.000	A
CDC42BPA	8476	genome.wustl.edu	37	1	227333377	227333377	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:227333377C>T	ENST00000366769.3	-	8	2247	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R319Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R319Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AATGAGCCTTCGAATAAGATC	0.368																																						dbGAP											0													90.0	89.0	89.0					1																	227333377		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.956G>A	1.37:g.227333377C>T	ENSP00000355731:p.Arg319Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R319Q	ENST00000366769.3	37	c.956	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773959	0.49786	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	N	0.17922	0.545	0.80722	D	1	D;D;P;B	0.76494	0.998;0.999;0.803;0.376	D;P;B;B	0.71870	0.975;0.809;0.147;0.065	T	0.61584	-0.7033	10	0.20046	T	0.44	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	319;319;319;319	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	Q	319	ENSP00000355731:R319Q;ENSP00000355729:R319Q;ENSP00000335341:R319Q;ENSP00000355728:R319Q;ENSP00000355726:R319Q;ENSP00000443275:R319Q;ENSP00000355727:R319Q	ENSP00000335341:R319Q	R	-	2	0	CDC42BPA	225400000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.086000	0.57664	2.805000	0.96524	0.655000	0.94253	CGA	CDC42BPA	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000143776		0.368	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	257	0.00	0	C	NM_014826		227333377	227333377	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	201	15.13	36	SNP	1.000	T
CDC42EP3	10602	genome.wustl.edu	37	2	37873237	37873237	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:37873237A>T	ENST00000295324.3	-	2	1494	c.494T>A	c.(493-495)gTc>gAc	p.V165D	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	165					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TCCCTGGTGGACTGTCCCATT	0.602																																						dbGAP											0													69.0	73.0	72.0					2																	37873237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.494T>A	2.37:g.37873237A>T	ENSP00000295324:p.Val165Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.V165D	ENST00000295324.3	37	c.494	CCDS1791.1	2	.	.	.	.	.	.	.	.	.	.	A	3.313	-0.140327	0.06669	.	.	ENSG00000163171	ENST00000295324;ENST00000457889	T;T	0.32515	1.45;1.45	5.63	-2.57	0.06248	.	1.557220	0.03197	N	0.174132	T	0.13670	0.0331	N	0.08118	0	0.22918	N	0.998567	B	0.14438	0.01	B	0.11329	0.006	T	0.15150	-1.0447	10	0.34782	T	0.22	.	1.1896	0.01862	0.3339:0.2959:0.2385:0.1317	.	165	Q9UKI2	BORG2_HUMAN	D	165	ENSP00000295324:V165D;ENSP00000403298:V165D	ENSP00000295324:V165D	V	-	2	0	CDC42EP3	37726741	0.001000	0.12720	0.059000	0.19551	0.344000	0.29017	0.353000	0.20130	-0.109000	0.12044	-0.259000	0.10710	GTC	CDC42EP3	-	NULL	ENSG00000163171		0.602	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP3	HGNC	protein_coding	OTTHUMT00000218581.3	181	0.00	0	A	NM_006449		37873237	37873237	-1	no_errors	ENST00000295324	ensembl	human	known	69_37n	missense	94	13.76	15	SNP	0.015	T
CDC5L	988	genome.wustl.edu	37	6	44390475	44390475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:44390475C>T	ENST00000371477.3	+	10	1632	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	445	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AACTCCTCTTCGAGACAAGTT	0.443																																						dbGAP											0													117.0	120.0	119.0					6																	44390475		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1333C>T	6.37:g.44390475C>T	ENSP00000360532:p.Arg445*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76N46|Q99974	Nonsense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R445*	ENST00000371477.3	37	c.1333	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.568665	0.98866	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.85	2.52	0.30459	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.882	15.6299	0.76899	0.4207:0.5793:0.0:0.0	.	.	.	.	X	445	.	ENSP00000360532:R445X	R	+	1	2	CDC5L	44498453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.136000	0.31467	0.679000	0.31345	0.563000	0.77884	CGA	CDC5L	-	pfam_DUF3351	ENSG00000096401		0.443	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	291	0.00	0	C			44390475	44390475	+1	no_errors	ENST00000371477	ensembl	human	known	69_37n	nonsense	254	15.05	45	SNP	0.999	T
CDC73	79577	genome.wustl.edu	37	1	193099338	193099338	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:193099338G>A	ENST00000367435.3	+	3	456	c.272G>A	c.(271-273)cGa>cAa	p.R91Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	91			R -> P (found in a patient with isolated hyperparathyroidism and parathyroid adenomas). {ECO:0000269|PubMed:17639062}.		cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R91Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGACCTGATCGAAAAGATCTA	0.294																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM072926	CDC73	M							140.0	144.0	143.0					1																	193099338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.272G>A	1.37:g.193099338G>A	ENSP00000356405:p.Arg91Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.R91Q	ENST00000367435.3	37	c.272	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.351125	0.95830	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.91407	-2.84	5.62	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.3544	14.535	0.67953	0.0704:0.0:0.9296:0.0	.	91	Q6P1J9	CDC73_HUMAN	Q	91	ENSP00000356405:R91Q	ENSP00000356405:R91Q	R	+	2	0	CDC73	191365961	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.743000	0.98849	1.377000	0.46286	0.561000	0.74099	CGA	CDC73	-	NULL	ENSG00000134371		0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	803	0.12	1	G	NM_024529		193099338	193099338	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	423	39.20	274	SNP	1.000	A
CDC73	79577	genome.wustl.edu	37	1	193181526	193181526	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:193181526G>A	ENST00000367435.3	+	13	1257	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	358	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R358Q(1)|p.R358L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATAGGATCTCGAACACCCATT	0.279																																						dbGAP											2	Substitution - Missense(2)	lung(1)|kidney(1)											122.0	136.0	131.0					1																	193181526		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1073G>A	1.37:g.193181526G>A	ENSP00000356405:p.Arg358Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.R358Q	ENST00000367435.3	37	c.1073	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.633362	0.96682	.	.	ENSG00000134371	ENST00000367435	T	0.69435	-0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.81675	-0.0825	10	0.32370	T	0.25	-8.1698	20.6593	0.99626	0.0:0.0:1.0:0.0	.	358	Q6P1J9	CDC73_HUMAN	Q	358	ENSP00000356405:R358Q	ENSP00000356405:R358Q	R	+	2	0	CDC73	191448149	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.732000	0.91534	2.885000	0.99019	0.655000	0.94253	CGA	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.279	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	209	0.00	0	G	NM_024529		193181526	193181526	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	166	18.23	37	SNP	1.000	A
CDCA3	83461	genome.wustl.edu	37	12	6958719	6958719	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6958719G>T	ENST00000538862.2	-	4	1446				CDCA3_ENST00000422785.3_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_Intron|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000229265.6_Intron|CDCA3_ENST00000535406.1_Intron			Q99618	CDCA3_HUMAN	cell division cycle associated 3						mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TCTTGCCTTAGATTCTGTACC	0.502																																						dbGAP											0													115.0	119.0	118.0					12																	6958719		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.544+9C>A	12.37:g.6958719G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V6|D3DUS6	RNA	SNP	-	NULL	ENST00000538862.2	37	NULL	CCDS8565.1	12																																																																																			CDCA3	-	-	ENSG00000111665		0.502	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA3	HGNC	protein_coding	OTTHUMT00000401940.2	100	0.00	0	G	NM_031299		6958719	6958719	-1	no_errors	ENST00000544610	ensembl	human	putative	69_37n	rna	81	10.99	10	SNP	0.001	T
CDCA7	83879	genome.wustl.edu	37	2	174224139	174224139	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:174224139G>A	ENST00000347703.3	+	2	291				CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000306721.3_Missense_Mutation_p.E102K|CDCA7_ENST00000410101.3_Missense_Mutation_p.E58K|CDCA7_ENST00000410019.3_Intron	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7						apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E102K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGTCACTAACGAACTGGCCGG	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											101.0	101.0	101.0					2																	174224139		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.147+574G>A	2.37:g.174224139G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.E102K	ENST00000347703.3	37	c.304	CCDS2253.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078203	0.76528	.	.	ENSG00000144354	ENST00000306721;ENST00000410101	T;T	0.53857	0.6;0.73	6.06	5.19	0.71726	.	0.064355	0.64402	N	0.000012	T	0.65091	0.2658	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.997;0.999	P;P	0.59825	0.735;0.864	T	0.63980	-0.6514	10	0.30854	T	0.27	-11.606	13.3714	0.60715	0.0732:0.0:0.9268:0.0	.	58;102	B4DV66;Q9BWT1-2	.;.	K	102;58	ENSP00000306968:E102K;ENSP00000386656:E58K	ENSP00000306968:E102K	E	+	1	0	CDCA7	173932385	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	2.376000	0.44292	1.575000	0.49775	0.650000	0.86243	GAA	CDCA7	-	NULL	ENSG00000144354		0.423	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	HGNC	protein_coding	OTTHUMT00000255400.1	119	0.00	0	G	NM_031942		174224139	174224139	+1	no_errors	ENST00000306721	ensembl	human	known	69_37n	missense	88	18.52	20	SNP	1.000	A
CDH11	1009	genome.wustl.edu	37	16	64981769	64981769	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:64981769G>A	ENST00000268603.4	-	13	2743	c.2128C>T	c.(2128-2130)Cca>Tca	p.P710S	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.P584S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	710					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P710S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGGCGCTGGCCGGAGCCCA	0.502			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												dbGAP		Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	1	Substitution - Missense(1)	lung(1)											119.0	112.0	114.0					16																	64981769		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2128C>T	16.37:g.64981769G>A	ENSP00000268603:p.Pro710Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P710S	ENST00000268603.4	37	c.2128	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155105	0.38021	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.75821	-0.97	6.17	6.17	0.99709	Cadherin, cytoplasmic domain (1);	0.858907	0.10737	N	0.639953	T	0.68357	0.2992	N	0.25144	0.715	0.80722	D	1	B	0.24186	0.099	B	0.29353	0.101	T	0.56721	-0.7932	10	0.25106	T	0.35	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	710	P55287	CAD11_HUMAN	S	710;693	ENSP00000268603:P710S	ENSP00000268603:P710S	P	-	1	0	CDH11	63539270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCA	CDH11	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000140937		0.502	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	342	0.29	1	G	NM_033664		64981769	64981769	-1	no_errors	ENST00000268603	ensembl	human	known	69_37n	missense	109	38.42	68	SNP	1.000	A
CDH12	1010	genome.wustl.edu	37	5	21817099	21817099	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:21817099G>A	ENST00000382254.1	-	9	2043	c.957C>T	c.(955-957)atC>atT	p.I319I	CDH12_ENST00000504376.2_Silent_p.I319I|CDH12_ENST00000522262.1_Silent_p.I279I|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CATCTGTGACGATGTCAAACA	0.348										HNSCC(59;0.17)																												dbGAP											0													153.0	152.0	152.0					5																	21817099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.957C>T	5.37:g.21817099G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I319	ENST00000382254.1	37	c.957	CCDS3890.1	5																																																																																			CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.348	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	341	0.00	0	G	NM_004061		21817099	21817099	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	silent	207	14.46	35	SNP	0.111	A
CDH16	1014	genome.wustl.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:66946460C>T	ENST00000299752.4	-	11	1499	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592																																						dbGAP											0													131.0	119.0	123.0					16																	66946460		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1306G>A	16.37:g.66946460C>T	ENSP00000299752:p.Glu436Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E436K	ENST00000299752.4	37	c.1306	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.729110	0.00687	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.51071	0.72;0.72	4.72	-9.29	0.00653	Cadherin (4);Cadherin-like (1);	1.743040	0.02650	N	0.106323	T	0.16041	0.0386	N	0.16567	0.415	0.09310	N	1	P;P;P	0.39847	0.572;0.691;0.626	B;B;B	0.29440	0.053;0.102;0.097	T	0.44159	-0.9346	10	0.06365	T	0.9	3.216	0.9283	0.01329	0.3116:0.2024:0.103:0.383	.	436;436;436	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	436;436;400	ENSP00000377619:E436K;ENSP00000299752:E436K	ENSP00000299752:E436K	E	-	1	0	CDH16	65503961	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.589000	0.00111	-1.724000	0.01373	-0.367000	0.07326	GAA	CDH16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166589		0.592	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	HGNC	protein_coding	OTTHUMT00000268839.2	136	0.00	0	C	NM_004062		66946460	66946460	-1	no_errors	ENST00000299752	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.000	T
CDH20	28316	genome.wustl.edu	37	18	59166487	59166487	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:59166487C>T	ENST00000262717.4	+	3	713	c.315C>T	c.(313-315)atC>atT	p.I105I	CDH20_ENST00000538374.1_Silent_p.I105I|CDH20_ENST00000536675.2_Silent_p.I105I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGCTGGCATCGTGTTTACCA	0.517																																						dbGAP											0													89.0	70.0	76.0					18																	59166487		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.315C>T	18.37:g.59166487C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I105	ENST00000262717.4	37	c.315	CCDS11977.1	18																																																																																			CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.517	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	38	0.00	0	C	NM_031891		59166487	59166487	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	silent	28	40.43	19	SNP	0.019	T
CDH20	28316	genome.wustl.edu	37	18	59203763	59203763	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:59203763T>G	ENST00000262717.4	+	8	1707	c.1309T>G	c.(1309-1311)Ttc>Gtc	p.F437V	CDH20_ENST00000538374.1_Missense_Mutation_p.F437V|CDH20_ENST00000536675.2_Missense_Mutation_p.F437V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGGAAGATTTTTCTATGTTGA	0.413																																						dbGAP											0													201.0	190.0	193.0					18																	59203763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1309T>G	18.37:g.59203763T>G	ENSP00000262717:p.Phe437Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F437V	ENST00000262717.4	37	c.1309	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515961	0.85495	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	D;D;D	0.83075	-1.68;-1.68;-1.68	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.90595	3.13	0.80722	D	1	P	0.41188	0.741	P	0.51550	0.673	D	0.92363	0.5899	10	0.87932	D	0	.	15.3951	0.74787	0.0:0.0:0.0:1.0	.	437	Q9HBT6	CAD20_HUMAN	V	437	ENSP00000444767:F437V;ENSP00000442226:F437V;ENSP00000262717:F437V	ENSP00000262717:F437V	F	+	1	0	CDH20	57354743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.453000	0.80700	2.104000	0.64026	0.448000	0.29417	TTC	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000101542		0.413	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	267	0.00	0	T	NM_031891		59203763	59203763	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	193	27.34	73	SNP	1.000	G
CDH19	28513	genome.wustl.edu	37	18	64211348	64211348	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:64211348C>A	ENST00000540086.1	-	7	1320	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N	CDH19_ENST00000262150.2_Missense_Mutation_p.K358N	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	459	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCACCTGGATCTTAATGAAAG	0.433																																						dbGAP											0													139.0	121.0	127.0					18																	64211348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1074G>T	18.37:g.64211348C>A	ENSP00000439593:p.Lys358Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K358N	ENST00000540086.1	37	c.1074	CCDS59325.1	18	.	.	.	.	.	.	.	.	.	.	C	8.610	0.888825	0.17540	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.19938	2.11;2.11	5.62	2.3	0.28687	Cadherin (3);Cadherin-like (1);	0.216120	0.46145	D	0.000319	T	0.27933	0.0688	L	0.48935	1.535	0.09310	N	1	P;P	0.45474	0.859;0.458	P;P	0.52386	0.697;0.635	T	0.04796	-1.0926	10	0.72032	D	0.01	.	9.7229	0.40313	0.0:0.7123:0.0:0.2877	.	358;358	F5H1K0;Q9H159	.;CAD19_HUMAN	N	358;358;303	ENSP00000262150:K358N;ENSP00000439593:K358N	ENSP00000262150:K358N	K	-	3	2	CDH19	62362328	0.941000	0.31946	0.022000	0.16811	0.721000	0.41392	1.229000	0.32600	0.595000	0.29777	0.650000	0.86243	AAG	CDH19	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000071991		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	216	0.00	0	C	NM_021153		64211348	64211348	-1	no_errors	ENST00000262150	ensembl	human	known	69_37n	missense	128	15.79	24	SNP	0.090	A
CDH23	64072	genome.wustl.edu	37	10	73270737	73270737	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:73270737C>A	ENST00000224721.6	+	4	320	c.315C>A	c.(313-315)ttC>ttA	p.F105L	CDH23_ENST00000398842.3_Missense_Mutation_p.F105L|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.F105L|CDH23_ENST00000461841.3_Missense_Mutation_p.F150L|CDH23_ENST00000299366.7_Missense_Mutation_p.F150L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	105	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGTGGAGTTCTCTGTCAGCG	0.607																																						dbGAP											0													72.0	81.0	78.0					10																	73270737		1931	4115	6046	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.315C>A	10.37:g.73270737C>A	ENSP00000224721:p.Phe105Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F105L	ENST00000224721.6	37	c.315		10	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878209	0.51801	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.58358	0.34;0.34	5.43	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000001	T	0.39835	0.1093	N	0.03983	-0.305	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.997	D;D;D;D	0.91635	0.994;0.999;0.989;0.988	T	0.38415	-0.9662	10	0.13470	T	0.59	.	4.2902	0.10874	0.0:0.5287:0.0:0.4713	.	105;105;105;105	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	L	105;105;105;105;105;105;105;46	ENSP00000381789:F105L;ENSP00000381822:F105L	ENSP00000224721:F105L	F	+	3	2	CDH23	72940743	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.527000	0.45615	1.285000	0.44548	0.462000	0.41574	TTC	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	143	0.00	0	C	NM_052836		73270737	73270737	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	A
CDH26	60437	genome.wustl.edu	37	20	58547017	58547017	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:58547017C>T	ENST00000244047.5	+	4	543	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	CDH26_ENST00000348616.4_Splice_Site_p.L78L			Q8IXH8	CAD26_HUMAN	cadherin 26	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CTCCTTCCAGCTGTTCAATAA	0.348																																						dbGAP											0													118.0	111.0	113.0					20																	58547017		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.232-1C>T	20.37:g.58547017C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L78	ENST00000244047.5	37	c.232		20																																																																																			CDH26	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.348	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		231	0.00	0	C	NM_177980	Silent	58547017	58547017	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	silent	186	15.00	33	SNP	1.000	T
CDH26	60437	genome.wustl.edu	37	20	58547091	58547091	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:58547091G>T	ENST00000244047.5	+	4	617	c.306G>T	c.(304-306)gaG>gaT	p.E102D	CDH26_ENST00000348616.4_Missense_Mutation_p.E102D			Q8IXH8	CAD26_HUMAN	cadherin 26	102	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AATATCCAGAGATTGGTTTGT	0.388																																						dbGAP											0													155.0	147.0	150.0					20																	58547091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.306G>T	20.37:g.58547091G>T	ENSP00000244047:p.Glu102Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E102D	ENST00000244047.5	37	c.306		20	.	.	.	.	.	.	.	.	.	.	.	17.68	3.449143	0.63178	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.60672	0.17;0.17	4.56	2.6	0.31112	.	0.000000	0.64402	D	0.000004	T	0.66655	0.2811	L	0.55103	1.725	0.35667	D	0.812976	D	0.76494	0.999	D	0.80764	0.994	T	0.71358	-0.4617	10	0.38643	T	0.18	.	9.7949	0.40728	0.1779:0.0:0.8221:0.0	.	102	Q8IXH8-4	.	D	102	ENSP00000244047:E102D;ENSP00000339390:E102D	ENSP00000244047:E102D	E	+	3	2	CDH26	57980486	0.955000	0.32602	0.988000	0.46212	0.994000	0.84299	1.272000	0.33109	1.230000	0.43646	0.650000	0.86243	GAG	CDH26	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.388	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		446	0.45	2	G	NM_177980		58547091	58547091	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	missense	268	19.70	66	SNP	0.984	T
CDH7	1005	genome.wustl.edu	37	18	63481748	63481748	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:63481748C>T	ENST00000397968.2	+	4	959	c.533C>T	c.(532-534)aCg>aTg	p.T178M	CDH7_ENST00000536984.2_Missense_Mutation_p.T178M|CDH7_ENST00000323011.3_Missense_Mutation_p.T178M	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTGACAGCGACGGATGCTGAT	0.428																																						dbGAP											0													187.0	173.0	178.0					18																	63481748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.533C>T	18.37:g.63481748C>T	ENSP00000381058:p.Thr178Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T178M	ENST00000397968.2	37	c.533	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537360	0.85812	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.56776	0.44;0.44;0.44	5.45	5.45	0.79879	Cadherin (5);Cadherin-like (1);	0.054530	0.64402	D	0.000001	T	0.69531	0.3121	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.97;0.999	T	0.69975	-0.4999	10	0.62326	D	0.03	.	19.6512	0.95812	0.0:1.0:0.0:0.0	.	178;178	F5H5X9;Q9ULB5	.;CADH7_HUMAN	M	178	ENSP00000319166:T178M;ENSP00000443030:T178M;ENSP00000381058:T178M	ENSP00000319166:T178M	T	+	2	0	CDH7	61632728	1.000000	0.71417	0.088000	0.20740	0.862000	0.49288	5.518000	0.67068	2.712000	0.92718	0.591000	0.81541	ACG	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000081138		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	304	0.00	0	C	NM_033646		63481748	63481748	+1	no_errors	ENST00000323011	ensembl	human	known	69_37n	missense	146	31.78	68	SNP	0.996	T
CDH7	1005	genome.wustl.edu	37	18	63489482	63489482	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:63489482G>A	ENST00000397968.2	+	5	1217	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CDH7_ENST00000536984.2_Missense_Mutation_p.R264Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R264Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	264	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGCTTTCCTCGAAGTAAGTTG	0.373																																						dbGAP											0													122.0	89.0	100.0					18																	63489482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.791G>A	18.37:g.63489482G>A	ENSP00000381058:p.Arg264Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R264Q	ENST00000397968.2	37	c.791	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	8.273	0.813748	0.16537	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.36520	1.25;1.25;1.25	5.0	5.0	0.66597	Cadherin (3);Cadherin-like (1);	0.187208	0.37577	N	0.002038	T	0.10508	0.0257	N	0.00237	-1.79	0.53005	D	0.999964	B;P	0.48640	0.039;0.913	B;B	0.41440	0.004;0.357	T	0.44559	-0.9320	10	0.02654	T	1	.	18.6705	0.91508	0.0:0.0:1.0:0.0	.	264;264	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	264	ENSP00000319166:R264Q;ENSP00000443030:R264Q;ENSP00000381058:R264Q	ENSP00000319166:R264Q	R	+	2	0	CDH7	61640462	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	4.204000	0.58460	2.469000	0.83416	0.585000	0.79938	CGA	CDH7	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000081138		0.373	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	279	0.00	0	G	NM_033646		63489482	63489482	+1	no_errors	ENST00000323011	ensembl	human	known	69_37n	missense	168	16.83	34	SNP	1.000	A
CDH8	1006	genome.wustl.edu	37	16	61689592	61689592	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:61689592C>A	ENST00000577390.1	-	11	2642	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	CDH8_ENST00000299345.6_Missense_Mutation_p.G563V|CDH8_ENST00000577730.1_Missense_Mutation_p.G563V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCGGTTGAATCCATTATGCTT	0.358																																						dbGAP											0													108.0	102.0	104.0					16																	61689592		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1688G>T	16.37:g.61689592C>A	ENSP00000462701:p.Gly563Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G563V	ENST00000577390.1	37	c.1688	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646595	0.47258	.	.	ENSG00000150394	ENST00000299345	T	0.58506	0.33	5.63	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.199693	0.43110	D	0.000607	T	0.69124	0.3076	L	0.46670	1.46	0.80722	D	1	D	0.58620	0.983	D	0.68483	0.958	T	0.71755	-0.4497	10	0.62326	D	0.03	.	14.9914	0.71390	0.1436:0.8564:0.0:0.0	.	563	P55286	CADH8_HUMAN	V	563	ENSP00000299345:G563V	ENSP00000299345:G563V	G	-	2	0	CDH8	60247093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.019000	0.49635	1.366000	0.46076	-0.195000	0.12781	GGA	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150394		0.358	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	303	0.00	0	C	NM_001796		61689592	61689592	-1	no_errors	ENST00000577390	ensembl	human	known	69_37n	missense	127	42.34	94	SNP	1.000	A
CDH9	1007	genome.wustl.edu	37	5	26881369	26881369	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:26881369G>A	ENST00000231021.4	-	12	2418	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	749					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGAACTGAGCGAATCTGCTAT	0.443																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													128.0	120.0	123.0					5																	26881369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2246C>T	5.37:g.26881369G>A	ENSP00000231021:p.Ser749Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S749L	ENST00000231021.4	37	c.2246	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062979	0.76187	.	.	ENSG00000113100	ENST00000231021	D	0.84516	-1.86	5.36	5.36	0.76844	Cadherin, cytoplasmic domain (1);	0.057055	0.64402	D	0.000001	D	0.95140	0.8425	H	0.97158	3.95	0.50632	D	0.999889	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.96694	0.9513	9	.	.	.	.	17.6601	0.88191	0.0:0.0:1.0:0.0	.	342;749	B4DFP0;Q9ULB4	.;CADH9_HUMAN	L	749	ENSP00000231021:S749L	.	S	-	2	0	CDH9	26917126	1.000000	0.71417	0.398000	0.26321	0.678000	0.39670	9.835000	0.99442	2.504000	0.84457	0.557000	0.71058	TCG	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.443	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	266	0.00	0	G	NM_016279		26881369	26881369	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	missense	113	32.34	54	SNP	0.999	A
CDHR2	54825	genome.wustl.edu	37	5	176004676	176004676	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176004676C>T	ENST00000510636.1	+	14	1663	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	CDHR2_ENST00000506348.1_Silent_p.V463V|CDHR2_ENST00000261944.5_Silent_p.V463V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	463	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTTCTCCGTCGCCATGGTGA	0.637																																						dbGAP											0													82.0	76.0	78.0					5																	176004676		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1389C>T	5.37:g.176004676C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U4|A6NC80|Q9NXP8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V463	ENST00000510636.1	37	c.1389	CCDS34297.1	5																																																																																			CDHR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000074276		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	62	0.00	0	C	NM_017675		176004676	176004676	+1	no_errors	ENST00000261944	ensembl	human	known	69_37n	silent	54	27.03	20	SNP	0.000	T
CDK1	983	genome.wustl.edu	37	10	62553663	62553663	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:62553663G>A	ENST00000395284.3	+	8	966	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	CDK1_ENST00000373809.2_Missense_Mutation_p.R218Q|CDK1_ENST00000448257.2_Missense_Mutation_p.R275Q|CDK1_ENST00000316629.4_Missense_Mutation_p.R218Q	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R275Q(1)		ovary(1)	1						CCAGCCAAACGAATTTCTGGC	0.289																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											69.0	71.0	70.0					10																	62553663		2202	4293	6495	-	-	-	SO:0001583	missense	0			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.824G>A	10.37:g.62553663G>A	ENSP00000378699:p.Arg275Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C4|C9J497|O60764	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R275Q	ENST00000395284.3	37	c.824	CCDS44408.1	10	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631986	0.87660	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	6.02	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055200	0.64402	D	0.000001	D	0.89529	0.6741	H	0.98542	4.26	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.999	P;P;P	0.58210	0.575;0.835;0.835	D	0.92334	0.5876	10	0.87932	D	0	-10.2378	13.0901	0.59162	0.1293:0.0:0.8707:0.0	.	218;281;275	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	Q	275;218;275;218	ENSP00000378699:R275Q;ENSP00000325970:R218Q;ENSP00000397973:R275Q;ENSP00000362915:R218Q	ENSP00000325970:R218Q	R	+	2	0	CDK1	62223669	1.000000	0.71417	0.989000	0.46669	0.951000	0.60555	7.699000	0.84547	0.886000	0.36113	0.655000	0.94253	CGA	CDK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000170312		0.289	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CDK1	HGNC	protein_coding	OTTHUMT00000048211.2	150	0.66	1	G	NM_001786		62553663	62553663	+1	no_errors	ENST00000395284	ensembl	human	known	69_37n	missense	95	22.13	27	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37671991	37671991	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:37671991C>A	ENST00000447079.4	+	9	2809	c.2776C>A	c.(2776-2778)Ctt>Att	p.L926I	CDK12_ENST00000430627.2_Missense_Mutation_p.L926I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	926	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TAGATGTATTCTTGGGGAACT	0.373			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													99.0	96.0	97.0					17																	37671991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2776C>A	17.37:g.37671991C>A	ENSP00000398880:p.Leu926Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L926I	ENST00000447079.4	37	c.2776	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780482	0.70222	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70631	-0.5;-0.5	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40908	D	0.000986	T	0.82204	0.4986	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.998;0.996	T	0.82612	-0.0371	10	0.87932	D	0	-11.6639	20.1162	0.97934	0.0:1.0:0.0:0.0	.	925;926;926	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	I	926	ENSP00000407720:L926I;ENSP00000398880:L926I	ENSP00000407720:L926I	L	+	1	0	CDK12	34925517	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.862000	0.62976	2.756000	0.94617	0.655000	0.94253	CTT	CDK12	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000167258		0.373	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	305	0.00	0	C	NM_016507		37671991	37671991	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	missense	225	16.36	44	SNP	1.000	A
CDK14	5218	genome.wustl.edu	37	7	90547038	90547038	+	Splice_Site	SNP	C	C	T	rs202149959		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:90547038C>T	ENST00000380050.3	+	8	956	c.825C>T	c.(823-825)ttC>ttT	p.F275F	CDK14_ENST00000265741.3_Splice_Site_p.F257F|CDK14_ENST00000406263.1_Splice_Site_p.F229F|CDK14_ENST00000436577.2_Splice_Site_p.F146F			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGGCAGATTTCGGTAGGAAAG	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		15970	0.001		0.0	False		,,,				2504	0.0				GBM(83;1228 1256 8311 16577 31299)	dbGAP											0													102.0	103.0	103.0					7																	90547038		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.826+1C>T	7.37:g.90547038C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F275	ENST00000380050.3	37	c.825		7																																																																																			CDK14	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000058091		0.448	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	236	0.00	0	C	NM_012395	Silent	90547038	90547038	+1	no_errors	ENST00000380050	ensembl	human	known	69_37n	silent	176	17.76	38	SNP	1.000	T
CDK18	5129	genome.wustl.edu	37	1	205496933	205496933	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:205496933C>T	ENST00000360066.2	+	9	1042	c.741C>T	c.(739-741)ttC>ttT	p.F247F	CDK18_ENST00000506784.1_Silent_p.F277F|CDK18_ENST00000429964.2_Silent_p.F247F|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTTTCATGTTCCAGCTGCTCC	0.637																																					Pancreas(180;489 2072 28461 40831 44265)	dbGAP											0													82.0	83.0	83.0					1																	205496933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.741C>T	1.37:g.205496933C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F277	ENST00000360066.2	37	c.831	CCDS44300.1	1																																																																																			CDK18	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000117266		0.637	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	181	0.00	0	C	NM_002596		205496933	205496933	+1	no_errors	ENST00000506784	ensembl	human	known	69_37n	silent	109	27.81	42	SNP	1.000	T
CDK5RAP1	51654	genome.wustl.edu	37	20	31960460	31960460	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31960460C>A	ENST00000357886.4	-	11	1444	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*	CDK5RAP1_ENST00000477105.1_5'Flank|CDK5RAP1_ENST00000339269.5_Nonsense_Mutation_p.E340*|CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.E417*|CDK5RAP1_ENST00000473997.1_Nonsense_Mutation_p.E327*|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.E417*			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	431					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGAATAGATTCTCTAATATGG	0.368																																						dbGAP											0													114.0	109.0	111.0					20																	31960460		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1291G>T	20.37:g.31960460C>A	ENSP00000350558:p.Glu431*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Nonsense_Mutation	SNP	pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	p.E431*	ENST00000357886.4	37	c.1291		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.060544|6.060544	0.97246|0.97246	.|.	.|.	ENSG00000101391|ENSG00000101391	ENST00000427097|ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.623860|0.623860	0.17241|0.17241	N|N	0.181541|0.181541	T|.	0.63873|.	0.2548|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61763|.	-0.6996|.	4|.	.|0.23302	.|T	.|0.38	-4.1561|-4.1561	16.977|16.977	0.86316|0.86316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	85|417;431;340;327;157;417	.|.	.|ENSP00000341840:E340X	E|E	-|-	3|1	2|0	CDK5RAP1|CDK5RAP1	31424121|31424121	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.730000|0.730000	0.41778|0.41778	2.181000|2.181000	0.42547|0.42547	2.612000|2.612000	0.88384|0.88384	0.551000|0.551000	0.68910|0.68910	GAG|GAA	CDK5RAP1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase	ENSG00000101391		0.368	CDK5RAP1-011	KNOWN	basic	protein_coding	CDK5RAP1	HGNC	protein_coding	OTTHUMT00000078697.1	202	0.00	0	C	NM_016408		31960460	31960460	-1	no_errors	ENST00000357886	ensembl	human	known	69_37n	nonsense	177	25.63	61	SNP	0.990	A
CDKL1	8814	genome.wustl.edu	37	14	50796868	50796868	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:50796868C>T	ENST00000395834.1	-	9	1028	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ATP5S_ENST00000358473.1_Intron|RP11-247L20.4_ENST00000555403.1_lincRNA	NM_004196.3	NP_004187.2	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	333					heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TGGAAGGATGCTGCTGCCAGT	0.353																																						dbGAP											0													103.0	94.0	97.0					14																	50796868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000395834.1:c.1001G>A	14.37:g.50796868C>T	ENSP00000379176:p.Ser334Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S334N	ENST00000395834.1	37	c.1001	CCDS9699.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.85|13.85	2.360663|2.360663	0.41801|0.41801	.|.	.|.	ENSG00000100490|ENSG00000100490	ENST00000525911|ENST00000395834	.|T	.|0.66995	.|-0.24	5.23|5.23	3.37|3.37	0.38596|0.38596	.|.	.|.	.|.	.|.	.|.	T|T	0.39708|0.39708	0.1088|0.1088	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.10451|0.10451	-1.0629|-1.0629	5|9	.|0.16896	.|T	.|0.51	.|.	4.4039|4.4039	0.11400|0.11400	0.0:0.5446:0.1766:0.2788|0.0:0.5446:0.1766:0.2788	.|.	.|333	.|Q00532	.|CDKL1_HUMAN	T|N	58|334	.|ENSP00000379176:S334N	.|ENSP00000379176:S334N	A|S	-|-	1|2	0|0	CDKL1|CDKL1	49866618|49866618	0.671000|0.671000	0.27521|0.27521	0.992000|0.992000	0.48379|0.48379	0.988000|0.988000	0.76386|0.76386	0.807000|0.807000	0.27140|0.27140	0.833000|0.833000	0.34828|0.34828	0.655000|0.655000	0.94253|0.94253	GCA|AGC	CDKL1	-	NULL	ENSG00000100490		0.353	CDKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL1	HGNC	protein_coding	OTTHUMT00000276872.2	239	0.00	0	C			50796868	50796868	-1	no_errors	ENST00000395834	ensembl	human	known	69_37n	missense	177	12.38	25	SNP	0.998	T
CDKL5	6792	genome.wustl.edu	37	X	18602449	18602449	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:18602449A>G	ENST00000379989.3	+	9	815	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	CDKL5_ENST00000379996.3_Missense_Mutation_p.Y177C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAGATGGTATCGGTCCCCA	0.403																																						dbGAP											0													154.0	128.0	137.0					X																	18602449		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.530A>G	X.37:g.18602449A>G	ENSP00000369325:p.Tyr177Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Y177C	ENST00000379989.3	37	c.530	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233645	0.79688	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71817	-0.6;-0.6	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89357	0.6692	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92778	0.6238	10	0.87932	D	0	-19.3872	14.7967	0.69884	1.0:0.0:0.0:0.0	.	177	O76039	CDKL5_HUMAN	C	177	ENSP00000369332:Y177C;ENSP00000369325:Y177C	ENSP00000369325:Y177C	Y	+	2	0	CDKL5	18512370	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.285000	0.78660	1.876000	0.54355	0.381000	0.24937	TAT	CDKL5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000008086		0.403	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	462	0.00	0	A	NM_003159		18602449	18602449	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	216	12.50	31	SNP	1.000	G
CDO1	1036	genome.wustl.edu	37	5	115152113	115152113	+	5'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:115152113C>T	ENST00000250535.4	-	0	538				CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1						cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	GAGCTGGCTGCGCGCGCGTCT	0.652																																						dbGAP											0													66.0	69.0	68.0					5																	115152113		2202	4300	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.-19G>A	5.37:g.115152113C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK4|P78513|Q6FHZ8|Q8TB64	RNA	SNP	-	NULL	ENST00000250535.4	37	NULL	CCDS4121.1	5																																																																																			CDO1	-	-	ENSG00000129596		0.652	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	47	0.00	0	C	NM_001801		115152113	115152113	-1	no_errors	ENST00000504613	ensembl	human	putative	69_37n	rna	25	13.79	4	SNP	0.030	T
CDYL2	124359	genome.wustl.edu	37	16	80646631	80646631	+	Silent	SNP	G	G	A	rs201298919		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:80646631G>A	ENST00000570137.2	-	5	1265	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	CDYL2_ENST00000562812.1_Silent_p.I371I|CDYL2_ENST00000566173.1_Silent_p.I371I|CDYL2_ENST00000563890.1_Silent_p.I371I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	370						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGGCCCACACGATGTCACAGA	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19556	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													86.0	82.0	83.0					16																	80646631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1110C>T	16.37:g.80646631G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5I8	Silent	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.I370	ENST00000570137.2	37	c.1110	CCDS32493.1	16																																																																																			CDYL2	-	pfam_Crotonase_core	ENSG00000166446		0.622	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	HGNC	protein_coding	OTTHUMT00000434727.2	218	0.00	0	G	NM_152342		80646631	80646631	-1	no_errors	ENST00000299564	ensembl	human	known	69_37n	silent	58	43.14	44	SNP	1.000	A
CEACAM20	125931	genome.wustl.edu	37	19	45010249	45010249	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:45010249C>T	ENST00000454753.1	-	0	2017							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGTGTTGGGCTCTGGATTCA	0.458																																						dbGAP											0													99.0	98.0	98.0					19																	45010249		1907	4115	6022	-	-	-			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45010249C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.458	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	136	0.00	0	C	NM_198444		45010249	45010249	-1	no_errors	ENST00000412211	ensembl	human	known	69_37n	rna	145	13.17	22	SNP	0.000	T
CEACAM20	125931	genome.wustl.edu	37	19	45016957	45016957	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:45016957C>T	ENST00000454753.1	-	0	1761							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCTCCTCCTTCGGGATGGGTT	0.592											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													97.0	103.0	101.0					19																	45016957		1927	4129	6056	-	-	-			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016957C>T		Somatic	928	WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.592	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	803	0.00	0	C	NM_198444		45016957	45016957	-1	no_errors	ENST00000316962	ensembl	human	known	69_37n	rna	670	13.99	109	SNP	0.000	T
CECR2	27443	genome.wustl.edu	37	22	18022188	18022188	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:18022188T>G	ENST00000400585.2	+	16	2305	c.1867T>G	c.(1867-1869)Ttg>Gtg	p.L623V	CECR2_ENST00000400573.5_Missense_Mutation_p.L764V|CECR2_ENST00000262608.8_Missense_Mutation_p.L765V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	806					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCAAGGACCCTTGGGCCCAGA	0.567																																						dbGAP											0													41.0	47.0	45.0					22																	18022188		1967	4143	6110	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1867T>G	22.37:g.18022188T>G	ENSP00000383428:p.Leu623Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L764V	ENST00000400585.2	37	c.2290		22	.	.	.	.	.	.	.	.	.	.	T	9.755	1.168624	0.21621	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.55;1.45	5.29	2.05	0.26809	.	0.165622	0.28821	N	0.014022	T	0.19167	0.0460	L	0.40543	1.245	0.27000	N	0.964929	B;B;B	0.28350	0.208;0.208;0.208	B;B;B	0.23716	0.048;0.048;0.048	T	0.15838	-1.0423	10	0.24483	T	0.36	-12.7224	5.2093	0.15308	0.0:0.3257:0.1647:0.5096	.	806;623;764	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	623;764;765	ENSP00000383428:L623V;ENSP00000383417:L764V;ENSP00000262608:L765V	ENSP00000262608:L765V	L	+	1	2	CECR2	16402188	0.052000	0.20516	0.992000	0.48379	0.692000	0.40212	-0.269000	0.08596	0.134000	0.18681	-0.375000	0.07067	TTG	CECR2	-	NULL	ENSG00000099954		0.567	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	88	0.00	0	T	NM_031413		18022188	18022188	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	59	21.33	16	SNP	0.898	G
CECR2	27443	genome.wustl.edu	37	22	18028573	18028573	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:18028573G>A	ENST00000400585.2	+	17	3542	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	CECR2_ENST00000400573.5_Missense_Mutation_p.R1177Q|CECR2_ENST00000262608.8_Missense_Mutation_p.R1178Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1219					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACTATCAGCGAACTCCTTAC	0.592																																						dbGAP											0													61.0	65.0	64.0					22																	18028573		2010	4164	6174	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3104G>A	22.37:g.18028573G>A	ENSP00000383428:p.Arg1035Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R1177Q	ENST00000400585.2	37	c.3530		22	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064329	0.36373	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.30182	1.65;1.65;1.54	4.63	4.63	0.57726	.	0.000000	0.41823	D	0.000819	T	0.19485	0.0468	L	0.48642	1.525	0.38327	D	0.943707	P;P;P	0.48503	0.78;0.911;0.462	B;B;B	0.28991	0.097;0.097;0.033	T	0.12941	-1.0528	10	0.46703	T	0.11	-15.6454	8.892	0.35439	0.168:0.0:0.832:0.0	.	1219;1035;1177	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Q	1035;1177;1178	ENSP00000383428:R1035Q;ENSP00000383417:R1177Q;ENSP00000262608:R1178Q	ENSP00000262608:R1178Q	R	+	2	0	CECR2	16408573	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.676000	0.54612	2.287000	0.76781	0.555000	0.69702	CGA	CECR2	-	NULL	ENSG00000099954		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	116	0.00	0	G	NM_031413		18028573	18028573	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	81	13.54	13	SNP	1.000	A
CECR2	27443	genome.wustl.edu	37	22	18028750	18028750	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:18028750C>A	ENST00000400585.2	+	17	3719	c.3281C>A	c.(3280-3282)tCt>tAt	p.S1094Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S1236Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S1237Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1278					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCTTAACTTCTCCAACCCGT	0.547																																						dbGAP											0													81.0	83.0	83.0					22																	18028750		1995	4168	6163	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3281C>A	22.37:g.18028750C>A	ENSP00000383428:p.Ser1094Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S1236Y	ENST00000400585.2	37	c.3707		22	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429854	0.62844	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.50548	0.87;0.86;0.74	4.46	4.46	0.54185	.	0.000000	0.45606	D	0.000345	T	0.60894	0.2304	M	0.66939	2.045	0.50313	D	0.999864	P;P;P	0.51791	0.948;0.948;0.948	P;P;P	0.53722	0.65;0.733;0.733	T	0.67589	-0.5632	10	0.72032	D	0.01	-20.9751	17.4898	0.87700	0.0:1.0:0.0:0.0	.	1278;1094;1236	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	1094;1236;1237	ENSP00000383428:S1094Y;ENSP00000383417:S1236Y;ENSP00000262608:S1237Y	ENSP00000262608:S1237Y	S	+	2	0	CECR2	16408750	1.000000	0.71417	0.975000	0.42487	0.748000	0.42578	5.966000	0.70395	2.194000	0.70268	0.555000	0.69702	TCT	CECR2	-	NULL	ENSG00000099954		0.547	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	81	0.00	0	C	NM_031413		18028750	18028750	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	64	18.99	15	SNP	1.000	A
CECR2	27443	genome.wustl.edu	37	22	18029209	18029209	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:18029209G>T	ENST00000400585.2	+	17	4178	c.3740G>T	c.(3739-3741)aGa>aTa	p.R1247I	CECR2_ENST00000400573.5_Missense_Mutation_p.R1389I|CECR2_ENST00000262608.8_Missense_Mutation_p.R1390I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1431					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ATTGGCACTAGAAGTGGAATA	0.478																																						dbGAP											0													33.0	35.0	34.0					22																	18029209		1929	4127	6056	-	-	-	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3740G>T	22.37:g.18029209G>T	ENSP00000383428:p.Arg1247Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R1389I	ENST00000400585.2	37	c.4166		22	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825472	0.32237	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.23754	2.01;2.01;1.89	4.73	2.57	0.30868	.	0.470871	0.17506	N	0.171817	T	0.12603	0.0306	N	0.08118	0	0.34232	D	0.676639	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10753	-1.0616	10	0.36615	T	0.2	-11.0046	10.6686	0.45745	0.0:0.1405:0.7149:0.1445	.	1431;1247;1389	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	I	1247;1389;1390	ENSP00000383428:R1247I;ENSP00000383417:R1389I;ENSP00000262608:R1390I	ENSP00000262608:R1390I	R	+	2	0	CECR2	16409209	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.277000	0.33167	2.469000	0.83416	0.484000	0.47621	AGA	CECR2	-	NULL	ENSG00000099954		0.478	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	95	0.00	0	G	NM_031413		18029209	18029209	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	missense	92	11.54	12	SNP	0.896	T
CELSR3	1951	genome.wustl.edu	37	3	48697349	48697349	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:48697349C>A	ENST00000164024.4	-	1	2999	c.2719G>T	c.(2719-2721)Gat>Tat	p.D907Y	CELSR3_ENST00000544264.1_Missense_Mutation_p.D907Y	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	907	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGTCTGCATCAATGCGGAAC	0.537																																						dbGAP											0													108.0	96.0	100.0					3																	48697349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2719G>T	3.37:g.48697349C>A	ENSP00000164024:p.Asp907Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D907Y	ENST00000164024.4	37	c.2719	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862944	0.51482	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.48522	0.81;0.81	5.67	4.79	0.61399	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76118	0.3943	H	0.94306	3.52	0.80722	D	1	P;D	0.71674	0.732;0.998	P;D	0.68765	0.9;0.96	D	0.83859	0.0267	9	0.87932	D	0	.	14.9093	0.70743	0.0:0.9303:0.0:0.0697	.	907;977	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	Y	907	ENSP00000164024:D907Y;ENSP00000445694:D907Y	ENSP00000164024:D907Y	D	-	1	0	CELSR3	48672353	0.985000	0.35326	0.970000	0.41538	0.992000	0.81027	2.679000	0.46909	1.375000	0.46248	0.561000	0.74099	GAT	CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000008300		0.537	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	110	0.00	0	C	NM_001407		48697349	48697349	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	0.997	A
CENPBD1	92806	genome.wustl.edu	37	16	90037806	90037806	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:90037806G>A	ENST00000314994.3	-	1	1136	c.525C>T	c.(523-525)atC>atT	p.I175I	RP11-566K11.5_ENST00000565150.1_RNA|AFG3L1P_ENST00000437774.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	175						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						caccttcttcgatgatgcttt	0.468																																						dbGAP											0													74.0	80.0	78.0					16																	90037806		1564	2932	4496	-	-	-	SO:0001819	synonymous_variant	0			AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.525C>T	16.37:g.90037806G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.I175	ENST00000314994.3	37	c.525	CCDS45556.1	16																																																																																			CENPBD1	-	NULL	ENSG00000177946		0.468	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPBD1	HGNC	protein_coding	OTTHUMT00000421897.1	62	0.00	0	G	NM_145039		90037806	90037806	-1	no_errors	ENST00000314994	ensembl	human	known	69_37n	silent	17	45.16	14	SNP	0.000	A
CENPC	1060	genome.wustl.edu	37	4	68358673	68358673	+	Missense_Mutation	SNP	G	G	A	rs267600207		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:68358673G>A	ENST00000273853.6	-	15	2583	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	778					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										CCTTTTAGACGATATTGTGTC	0.294																																						dbGAP											0													84.0	69.0	73.0					4																	68358673		1790	4030	5820	-	-	-	SO:0001583	missense	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2333C>T	4.37:g.68358673G>A	ENSP00000273853:p.Ser778Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW27|Q9P0M5	Missense_Mutation	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.S778L	ENST00000273853.6	37	c.2333	CCDS47063.1	4	.	.	.	.	.	.	.	.	.	.	G	5.794	0.330812	0.10956	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.65	2.85	0.33270	.	1.596380	0.03475	N	0.214177	T	0.33235	0.0856	M	0.61703	1.905	0.09310	N	1	P	0.48998	0.918	B	0.36378	0.223	T	0.28902	-1.0029	9	0.30078	T	0.28	1.5046	6.3002	0.21109	0.2328:0.0:0.7672:0.0	.	778	Q03188	CENPC_HUMAN	L	778	.	ENSP00000273853:S778L	S	-	2	0	CENPC1	68041268	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	1.075000	0.30716	0.821000	0.34540	-0.136000	0.14681	TCG	CENPC1	-	NULL	ENSG00000145241		0.294	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC1	HGNC	protein_coding	OTTHUMT00000362001.2	361	0.00	0	G			68358673	68358673	-1	no_errors	ENST00000273853	ensembl	human	known	69_37n	missense	202	20.16	51	SNP	0.001	A
CENPE	1062	genome.wustl.edu	37	4	104074301	104074301	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:104074301G>T	ENST00000265148.3	-	25	3229	c.3140C>A	c.(3139-3141)tCt>tAt	p.S1047Y	CENPE_ENST00000380026.3_Missense_Mutation_p.S1022Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1047					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTGTATTAAAGAAAATATCTT	0.318																																						dbGAP											0													123.0	121.0	122.0					4																	104074301		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3140C>A	4.37:g.104074301G>T	ENSP00000265148:p.Ser1047Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S1047Y	ENST00000265148.3	37	c.3140	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813664	0.50527	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	D;D;D	0.94828	-3.53;-3.53;-3.53	4.18	4.18	0.49190	.	.	.	.	.	D	0.96216	0.8766	M	0.64997	1.995	0.30702	N	0.750188	D;D	0.89917	0.998;1.0	D;D	0.85130	0.991;0.997	D	0.93455	0.6805	9	0.59425	D	0.04	.	12.0214	0.53346	0.0:0.176:0.824:0.0	.	1022;1047	Q02224-3;Q02224	.;CENPE_HUMAN	Y	1047;1047;1022;1047	ENSP00000265148:S1047Y;ENSP00000369365:S1022Y;ENSP00000423981:S1047Y	ENSP00000265148:S1047Y	S	-	2	0	CENPE	104293750	0.524000	0.26282	0.702000	0.30337	0.913000	0.54294	2.391000	0.44424	2.144000	0.66660	0.563000	0.77884	TCT	CENPE	-	NULL	ENSG00000138778		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		419	0.00	0	G			104074301	104074301	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	426	11.57	56	SNP	0.476	T
CENPE	1062	genome.wustl.edu	37	4	104096013	104096013	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:104096013A>C	ENST00000265148.3	-	16	1616	c.1527T>G	c.(1525-1527)aaT>aaG	p.N509K	CENPE_ENST00000380026.3_Missense_Mutation_p.N509K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	509					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTAATACCAGATTATCATAGT	0.289																																						dbGAP											0													69.0	64.0	66.0					4																	104096013		2187	4277	6464	-	-	-	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1527T>G	4.37:g.104096013A>C	ENSP00000265148:p.Asn509Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.N509K	ENST00000265148.3	37	c.1527	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	A	8.783	0.928786	0.18131	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.54866	0.55;0.55;0.55	5.73	-0.778	0.10977	.	.	.	.	.	T	0.30603	0.0770	N	0.14661	0.345	0.20926	N	0.999821	B;B	0.25809	0.135;0.083	B;B	0.24701	0.055;0.025	T	0.18713	-1.0328	9	0.33141	T	0.24	.	6.9603	0.24593	0.4816:0.1558:0.3625:0.0	.	509;509	Q02224-3;Q02224	.;CENPE_HUMAN	K	509	ENSP00000265148:N509K;ENSP00000369365:N509K;ENSP00000423981:N509K	ENSP00000265148:N509K	N	-	3	2	CENPE	104315462	0.914000	0.31030	0.976000	0.42696	0.992000	0.81027	0.189000	0.17037	-0.108000	0.12066	0.528000	0.53228	AAT	CENPE	-	NULL	ENSG00000138778		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		747	0.00	0	A			104096013	104096013	-1	no_errors	ENST00000265148	ensembl	human	known	69_37n	missense	307	20.67	80	SNP	0.807	C
CENPF	1063	genome.wustl.edu	37	1	214816319	214816319	+	Silent	SNP	G	G	A	rs564882822		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214816319G>A	ENST00000366955.3	+	12	4806	c.4638G>A	c.(4636-4638)gcG>gcA	p.A1546A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1642	2 X 96 AA approximate tandem repeats.		Missing. {ECO:0000269|PubMed:7651420}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.A1546A(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CGGCCCCAGCGAAGGGTGTTG	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20317	0.0		0.0	False		,,,				2504	0.0				Colon(80;575 1284 11000 14801 43496)	dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											43.0	46.0	45.0					1																	214816319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4638G>A	1.37:g.214816319G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13171|Q13246|Q5VVM7	Silent	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.A1546	ENST00000366955.3	37	c.4638	CCDS31023.1	1																																																																																			CENPF	-	NULL	ENSG00000117724		0.493	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	44	0.00	0	G	NM_016343		214816319	214816319	+1	no_errors	ENST00000366955	ensembl	human	known	69_37n	silent	32	39.62	21	SNP	0.000	A
CENPF	1063	genome.wustl.edu	37	1	214818897	214818897	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214818897A>C	ENST00000366955.3	+	13	6152	c.5984A>C	c.(5983-5985)cAa>cCa	p.Q1995P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2091					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGTCTCATCAAAGTGAGTGT	0.433																																					Colon(80;575 1284 11000 14801 43496)	dbGAP											0													73.0	76.0	75.0					1																	214818897		2203	4300	6503	-	-	-	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5984A>C	1.37:g.214818897A>C	ENSP00000355922:p.Gln1995Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.Q1995P	ENST00000366955.3	37	c.5984	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	A	1.701	-0.501484	0.04261	.	.	ENSG00000117724	ENST00000366955	T	0.43294	0.95	5.23	2.89	0.33648	.	1.171690	0.06535	N	0.742120	T	0.44201	0.1282	L	0.60455	1.87	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.31251	-0.9950	10	0.51188	T	0.08	.	10.5564	0.45121	0.7957:0.0:0.2043:0.0	.	2091	P49454	CENPF_HUMAN	P	1995	ENSP00000355922:Q1995P	ENSP00000355922:Q1995P	Q	+	2	0	CENPF	212885520	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	2.145000	0.42207	0.030000	0.15379	-1.186000	0.01703	CAA	CENPF	-	NULL	ENSG00000117724		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	122	0.00	0	A	NM_016343		214818897	214818897	+1	no_errors	ENST00000366955	ensembl	human	known	69_37n	missense	99	32.19	47	SNP	0.000	C
CENPF	1063	genome.wustl.edu	37	1	214820197	214820197	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214820197G>T	ENST00000366955.3	+	13	7452	c.7284G>T	c.(7282-7284)gaG>gaT	p.E2428D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2524	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E2428D(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGAGCAAGAGAAAGTACAGA	0.333																																					Colon(80;575 1284 11000 14801 43496)	dbGAP											1	Substitution - Missense(1)	endometrium(1)											67.0	77.0	73.0					1																	214820197		2201	4300	6501	-	-	-	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7284G>T	1.37:g.214820197G>T	ENSP00000355922:p.Glu2428Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E2428D	ENST00000366955.3	37	c.7284	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271980	0.40194	.	.	ENSG00000117724	ENST00000366955	T	0.48522	0.81	5.04	0.139	0.14798	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.194781	0.25332	N	0.031422	T	0.51312	0.1667	M	0.69358	2.11	0.25439	N	0.98811	P	0.51240	0.943	P	0.52066	0.689	T	0.46816	-0.9164	10	0.48119	T	0.1	.	8.5567	0.33485	0.6896:0.0:0.3104:0.0	.	2524	P49454	CENPF_HUMAN	D	2428	ENSP00000355922:E2428D	ENSP00000355922:E2428D	E	+	3	2	CENPF	212886820	0.998000	0.40836	0.532000	0.27989	0.074000	0.17049	1.529000	0.35996	-0.160000	0.11002	-0.320000	0.08662	GAG	CENPF	-	pfam_Centromere_CenpF_leu-rich_rpt	ENSG00000117724		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	117	0.00	0	G	NM_016343		214820197	214820197	+1	no_errors	ENST00000366955	ensembl	human	known	69_37n	missense	91	10.78	11	SNP	0.996	T
CENPI	2491	genome.wustl.edu	37	X	100356176	100356176	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100356176G>A	ENST00000372927.1	+	2	394	c.117G>A	c.(115-117)tcG>tcA	p.S39S	CENPI_ENST00000218507.5_Silent_p.S39S|CENPI_ENST00000372926.1_Silent_p.S39S|CENPI_ENST00000423383.1_Silent_p.S39S	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	39					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CAAGCAACTCGAAGAACATCT	0.423																																						dbGAP											0													173.0	146.0	155.0					X																	100356176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.117G>A	X.37:g.100356176G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWZ9|Q96ED0	Silent	SNP	pfam_Centromere_CenpI	p.S39	ENST00000372927.1	37	c.117	CCDS14479.1	X																																																																																			CENPI	-	pfam_Centromere_CenpI	ENSG00000102384		0.423	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	265	0.00	0	G	NM_006733		100356176	100356176	+1	no_errors	ENST00000372927	ensembl	human	known	69_37n	silent	214	20.15	54	SNP	0.001	A
CEP112	201134	genome.wustl.edu	37	17	63957608	63957608	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:63957608C>A	ENST00000392769.2	-	18	2063	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D	CEP112_ENST00000537949.1_Missense_Mutation_p.E573D|CEP112_ENST00000541355.1_Missense_Mutation_p.E250D|CEP112_ENST00000535342.2_Missense_Mutation_p.E615D	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	615					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CATAGACTTTCTCTGAGTTCA	0.483																																						dbGAP											0													140.0	122.0	128.0					17																	63957608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1845G>T	17.37:g.63957608C>A	ENSP00000376522:p.Glu615Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.E615D	ENST00000392769.2	37	c.1845	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986928	0.53934	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.34	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	L	0.54323	1.7	0.34741	D	0.73079	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.33085	-0.9882	10	0.41790	T	0.15	-20.0462	10.4236	0.44365	0.0:0.822:0.0:0.178	.	573;573;615	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	D	615;615;250;573	ENSP00000442784:E615D;ENSP00000376522:E615D;ENSP00000443711:E250D;ENSP00000440775:E573D	ENSP00000376522:E615D	E	-	3	2	CEP112	61388070	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.145000	0.42207	2.499000	0.84300	0.591000	0.81541	GAG	CEP112	-	NULL	ENSG00000154240		0.483	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	97	0.00	0	C	NM_145036		63957608	63957608	-1	no_errors	ENST00000392769	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	A
CEP112	201134	genome.wustl.edu	37	17	64049901	64049901	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:64049901G>A	ENST00000392769.2	-	12	1389	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	CEP112_ENST00000537949.1_Missense_Mutation_p.R349C|CEP112_ENST00000541355.1_Missense_Mutation_p.R26C|CEP112_ENST00000535342.2_Missense_Mutation_p.R391C	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	391					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTATTCAGACGCACATTTGTA	0.388																																						dbGAP											0													318.0	267.0	284.0					17																	64049901		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1171C>T	17.37:g.64049901G>A	ENSP00000376522:p.Arg391Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.R391C	ENST00000392769.2	37	c.1171	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174739	0.57692	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.61158	0.13;0.13;0.3;0.16	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.71581	2.175	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76326	-0.3000	10	0.72032	D	0.01	-10.1329	14.7678	0.69654	0.0:0.0:0.8556:0.1444	.	349;349;391	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	C	391;391;26;349	ENSP00000442784:R391C;ENSP00000376522:R391C;ENSP00000443711:R26C;ENSP00000440775:R349C	ENSP00000376522:R391C	R	-	1	0	CEP112	61480363	1.000000	0.71417	0.574000	0.28523	0.959000	0.62525	3.521000	0.53472	2.793000	0.96121	0.655000	0.94253	CGT	CEP112	-	NULL	ENSG00000154240		0.388	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	597	0.00	0	G	NM_145036		64049901	64049901	-1	no_errors	ENST00000392769	ensembl	human	known	69_37n	missense	434	13.55	68	SNP	0.991	A
CEP112	201134	genome.wustl.edu	37	17	64092740	64092740	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:64092740G>T	ENST00000392769.2	-	7	871	c.653C>A	c.(652-654)cCt>cAt	p.P218H	CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.P218H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	218					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CAGGTATCGAGGATTTTCTAT	0.274																																						dbGAP											0													28.0	29.0	29.0					17																	64092740		2202	4293	6495	-	-	-	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.653C>A	17.37:g.64092740G>T	ENSP00000376522:p.Pro218His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.P218H	ENST00000392769.2	37	c.653	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817774	0.71028	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	T;T	0.55588	0.51;0.51	5.87	5.87	0.94306	.	0.078742	0.50627	D	0.000110	T	0.71771	0.3379	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73167	-0.4068	10	0.87932	D	0	-14.0505	16.9339	0.86198	0.0:0.0:1.0:0.0	.	218	Q8N8E3	CE112_HUMAN	H	218	ENSP00000442784:P218H;ENSP00000376522:P218H	ENSP00000376522:P218H	P	-	2	0	CEP112	61523202	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.254000	0.65457	2.785000	0.95823	0.591000	0.81541	CCT	CEP112	-	NULL	ENSG00000154240		0.274	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	161	0.00	0	G	NM_145036		64092740	64092740	-1	no_errors	ENST00000392769	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	1.000	T
CEP128	145508	genome.wustl.edu	37	14	81372398	81372398	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:81372398C>T	ENST00000555265.1	-	5	637	c.262G>A	c.(262-264)Gac>Aac	p.D88N	CEP128_ENST00000281129.3_Missense_Mutation_p.D88N|CEP128_ENST00000327841.2_Missense_Mutation_p.D28N|CEP128_ENST00000216517.6_Missense_Mutation_p.D88N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	88						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CGGAGTTGGTCGATTGATTGT	0.373																																						dbGAP											0													59.0	56.0	57.0					14																	81372398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.262G>A	14.37:g.81372398C>T	ENSP00000451162:p.Asp88Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.D88N	ENST00000555265.1	37	c.262	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	C	10.05	1.242997	0.22796	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042	T;T;T;T;T	0.42900	1.56;1.56;0.96;0.97;0.98	6.03	4.93	0.64822	.	0.267369	0.35525	N	0.003145	T	0.23094	0.0558	N	0.12182	0.205	0.24037	N	0.996091	B;B;B	0.16396	0.0;0.017;0.003	B;B;B	0.08055	0.001;0.003;0.001	T	0.15521	-1.0434	10	0.20046	T	0.44	.	10.0138	0.42003	0.0:0.8785:0.0:0.1215	.	88;88;88	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	N	88;88;88;88;28;88;88	ENSP00000281129:D88N;ENSP00000451162:D88N;ENSP00000216517:D88N;ENSP00000451137:D88N;ENSP00000451214:D88N	ENSP00000216517:D88N	D	-	1	0	CEP128	80442151	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	1.893000	0.39758	1.216000	0.43427	0.557000	0.71058	GAC	CEP128	-	NULL	ENSG00000100629		0.373	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	210	0.00	0	C	NM_152446		81372398	81372398	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	missense	175	13.37	27	SNP	1.000	T
CEP128	145508	genome.wustl.edu	37	14	81382803	81382803	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:81382803C>T	ENST00000555265.1	-	3	464	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	CEP128_ENST00000281129.3_Missense_Mutation_p.R30Q|CEP128_ENST00000327841.2_5'UTR|CEP128_ENST00000216517.6_Missense_Mutation_p.R30Q			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	30						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGGAAGACTTCGAGTTCCCCT	0.418																																						dbGAP											0													171.0	152.0	158.0					14																	81382803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.89G>A	14.37:g.81382803C>T	ENSP00000451162:p.Arg30Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.R30Q	ENST00000555265.1	37	c.89	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265213	0.23136	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000555529;ENST00000556042;ENST00000556981	T;T;T;T;T;T	0.70399	1.44;1.44;0.84;0.87;0.88;-0.48	5.65	-0.0346	0.13896	.	0.880081	0.09785	N	0.756114	T	0.50069	0.1594	N	0.24115	0.695	0.09310	N	0.999998	B;B;B	0.17465	0.022;0.013;0.005	B;B;B	0.10450	0.005;0.003;0.003	T	0.33650	-0.9860	10	0.40728	T	0.16	.	2.3902	0.04376	0.1453:0.5245:0.1305:0.1997	.	30;30;30	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	Q	30	ENSP00000281129:R30Q;ENSP00000451162:R30Q;ENSP00000216517:R30Q;ENSP00000451137:R30Q;ENSP00000451214:R30Q;ENSP00000451428:R30Q	ENSP00000216517:R30Q	R	-	2	0	CEP128	80452556	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.811000	0.04500	-0.106000	0.12110	0.655000	0.94253	CGA	CEP128	-	NULL	ENSG00000100629		0.418	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	304	0.00	0	C	NM_152446		81382803	81382803	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	missense	214	25.44	73	SNP	0.000	T
CEP152	22995	genome.wustl.edu	37	15	49044665	49044665	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:49044665C>A	ENST00000380950.2	-	21	3534	c.3347G>T	c.(3346-3348)aGa>aTa	p.R1116I	CEP152_ENST00000325747.5_Splice_Site_p.R1023I|CEP152_ENST00000399334.3_Splice_Site_p.R1116I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1116					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GGCCATATTTCTCTGAAATAA	0.393																																						dbGAP											0													62.0	60.0	61.0					15																	49044665		1801	4072	5873	-	-	-	SO:0001630	splice_region_variant	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3346-1G>T	15.37:g.49044665C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.R1116I	ENST00000380950.2	37	c.3347	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	5.074	0.199300	0.09652	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.54675	0.59;0.6;0.56	5.35	-3.69	0.04450	.	1.156800	0.06132	N	0.670745	T	0.32941	0.0846	L	0.31294	0.92	0.22639	N	0.99891	B;P;B	0.35628	0.0;0.513;0.001	B;B;B	0.31337	0.002;0.128;0.002	T	0.17258	-1.0375	10	0.27785	T	0.31	0.8415	5.8717	0.18807	0.0:0.1921:0.3992:0.4087	.	1023;1116;1116	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	I	1116;1023;1116	ENSP00000370337:R1116I;ENSP00000321000:R1023I;ENSP00000382271:R1116I	ENSP00000321000:R1023I	R	-	2	0	CEP152	46831957	0.003000	0.15002	0.002000	0.10522	0.116000	0.19942	-0.611000	0.05622	-0.666000	0.05310	-0.136000	0.14681	AGA	CEP152	-	NULL	ENSG00000103995		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	176	0.00	0	C	NM_014985	Missense_Mutation	49044665	49044665	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	60	31.82	28	SNP	0.004	A
CEP170P1	645455	genome.wustl.edu	37	4	119459087	119459087	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:119459087C>A	ENST00000412784.2	+	0	245					NR_003135.2		Q96L14	C170L_HUMAN	centrosomal protein 170kDa pseudogene 1								identical protein binding (GO:0042802)										TCAGTGACTTCATCAGGCACT	0.463																																						dbGAP											0																																										-	-	-			0			BC014590		4q26	2010-10-11	2010-10-11	2010-10-11	ENSG00000154608	ENSG00000154608			28364	pseudogene	pseudogene			"""KIAA0470-like"", ""centrosomal protein 170kDa-like"""	KIAA0470L, CEP170L			Standard	NR_003135		Approved	MGC26143, FAM68B	uc003icb.3	Q96L14	OTTHUMG00000132958		4.37:g.119459087C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000412784.2	37	NULL		4																																																																																			CEP170P1	-	-	ENSG00000154608		0.463	CEP170P1-002	KNOWN	basic	processed_transcript	CEP170P1	HGNC	pseudogene	OTTHUMT00000364033.2	75	0.00	0	C	NR_003135.2		119459087	119459087	+1	no_errors	ENST00000412784	ensembl	human	known	69_37n	rna	42	23.64	13	SNP	1.000	A
CEP192	55125	genome.wustl.edu	37	18	13015425	13015425	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:13015425G>A	ENST00000325971.8	+	0	698				CEP192_ENST00000506447.1_Silent_p.P206P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTATCTTACCGACAAGCTTGG	0.398																																						dbGAP											0													145.0	113.0	123.0					18																	13015425		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.-896G>A	18.37:g.13015425G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.R95Q	ENST00000325971.8	37	c.284		18																																																																																			CEP192	-	NULL	ENSG00000101639		0.398	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		429	0.00	0	G	NM_032142		13015425	13015425	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513432	ensembl	human	known	69_37n	missense	295	10.00	33	SNP	0.004	A
CEP192	55125	genome.wustl.edu	37	18	13071096	13071096	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:13071096G>A	ENST00000325971.8	+	26	5038	c.3445G>A	c.(3445-3447)Gaa>Aaa	p.E1149K	CEP192_ENST00000506447.1_Missense_Mutation_p.E1745K|CEP192_ENST00000430049.2_Missense_Mutation_p.E1270K			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1149					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTTAAAAGGCGAAGTCATTTC	0.403																																						dbGAP											0													122.0	118.0	120.0					18																	13071096		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3445G>A	18.37:g.13071096G>A	ENSP00000317156:p.Glu1149Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.E1745K	ENST00000325971.8	37	c.5233		18	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327738	0.81690	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.47528	0.84;0.84;0.84	5.35	4.48	0.54585	.	0.059762	0.64402	D	0.000004	T	0.68458	0.3003	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.99	P;D;P	0.73708	0.818;0.981;0.665	T	0.73566	-0.3942	10	0.72032	D	0.01	-19.7107	16.129	0.81412	0.0:0.1338:0.8662:0.0	.	1270;1745;347	C9JT09;E9PF99;Q9HCK3	.;.;.	K	1745;1149;1149;1270	ENSP00000427550:E1745K;ENSP00000317156:E1149K;ENSP00000389190:E1270K	ENSP00000317156:E1149K	E	+	1	0	CEP192	13061096	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	7.124000	0.77185	1.244000	0.43870	-0.172000	0.13284	GAA	CEP192	-	NULL	ENSG00000101639		0.403	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		397	0.00	0	G	NM_032142		13071096	13071096	+1	no_errors	ENST00000506447	ensembl	human	known	69_37n	missense	256	15.51	47	SNP	1.000	A
CEP192	55125	genome.wustl.edu	37	18	13116486	13116486	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:13116486C>A	ENST00000325971.8	+	41	7205	c.5612C>A	c.(5611-5613)tCt>tAt	p.S1871Y	CEP192_ENST00000506447.1_Missense_Mutation_p.S2467Y|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.S1992Y			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1871					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAAATAATTCTTTTATTACA	0.403																																						dbGAP											0													79.0	74.0	76.0					18																	13116486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5612C>A	18.37:g.13116486C>A	ENSP00000317156:p.Ser1871Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.S2467Y	ENST00000325971.8	37	c.7400		18	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156963	0.78114	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.10573	2.86;2.86;2.87	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.991;0.991;0.998	T	0.13098	-1.0522	10	0.87932	D	0	-20.7571	18.1959	0.89822	0.0:1.0:0.0:0.0	.	1992;2467;471;1070	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	Y	2467;1871;1871;1992;471	ENSP00000427550:S2467Y;ENSP00000317156:S1871Y;ENSP00000389190:S1992Y	ENSP00000317156:S1871Y	S	+	2	0	CEP192	13106486	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.107000	0.64603	2.483000	0.83821	0.467000	0.42956	TCT	CEP192	-	NULL	ENSG00000101639		0.403	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		224	0.00	0	C	NM_032142		13116486	13116486	+1	no_errors	ENST00000506447	ensembl	human	known	69_37n	missense	225	23.21	68	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88502929	88502929	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:88502929C>A	ENST00000552810.1	-	23	2740	c.2397G>T	c.(2395-2397)aaG>aaT	p.K799N	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.K801N	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	799					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTCTAAATTCTTTAACTTTT	0.259																																						dbGAP											0													23.0	23.0	23.0					12																	88502929		1762	3992	5754	-	-	-	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2397G>T	12.37:g.88502929C>A	ENSP00000448012:p.Lys799Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.K801N	ENST00000552810.1	37	c.2403	CCDS55858.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.628423|1.628423	0.28978|0.28978	.|.	.|.	ENSG00000198707|ENSG00000198707	ENST00000536998|ENST00000552810;ENST00000309041	.|T;T	.|0.19532	.|2.14;2.14	5.07|5.07	-1.89|-1.89	0.07689|0.07689	.|.	.|0.245141	.|0.40640	.|N	.|0.001058	.|T	.|0.12902	.|0.0313	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.14438	.|0.01;0.003	.|B;B	.|0.13407	.|0.009;0.006	.|T	.|0.10086	.|-1.0645	.|10	0.87932|0.27082	D|T	0|0.32	.|.	3.7167|3.7167	0.08441|0.08441	0.2967:0.2167:0.0:0.4866|0.2967:0.2167:0.0:0.4866	.|.	.|799;799	.|Q05BJ6;O15078	.|.;CE290_HUMAN	X|N	799|799;801	.|ENSP00000448012:K799N;ENSP00000308021:K801N	ENSP00000445818:E799X|ENSP00000308021:K801N	E|K	-|-	1|3	0|2	CEP290|CEP290	87027060|87027060	0.134000|0.134000	0.22483|0.22483	0.939000|0.939000	0.37840|0.37840	0.551000|0.551000	0.35334|0.35334	-0.706000|-0.706000	0.05047|0.05047	-0.032000|-0.032000	0.13758|0.13758	-0.140000|-0.140000	0.14226|0.14226	GAA|AAG	CEP290	-	NULL	ENSG00000198707		0.259	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	146	0.00	0	C	NM_025114		88502929	88502929	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	missense	80	19.19	19	SNP	0.980	A
CEP290	80184	genome.wustl.edu	37	12	88508925	88508925	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:88508925T>C	ENST00000552810.1	-	19	2202	c.1859A>G	c.(1858-1860)gAa>gGa	p.E620G	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E622G	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	620					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAAATCTCTTTCTTTTTCAAT	0.249																																						dbGAP											0													52.0	49.0	50.0					12																	88508925		1784	4049	5833	-	-	-	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1859A>G	12.37:g.88508925T>C	ENSP00000448012:p.Glu620Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.E622G	ENST00000552810.1	37	c.1865	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083482	0.76642	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.80994	-1.44;-1.44	5.35	4.21	0.49690	.	0.055613	0.64402	N	0.000001	D	0.84356	0.5454	L	0.60455	1.87	0.80722	D	1	P;D	0.63046	0.925;0.992	P;P	0.59357	0.526;0.856	D	0.83473	0.0060	10	0.46703	T	0.11	.	11.1585	0.48501	0.0:0.0723:0.0:0.9277	.	620;620	Q05BJ6;O15078	.;CE290_HUMAN	G	620;622;620;522	ENSP00000448012:E620G;ENSP00000308021:E622G	ENSP00000308021:E622G	E	-	2	0	CEP290	87033056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.544000	0.60691	0.985000	0.38656	0.528000	0.53228	GAA	CEP290	-	NULL	ENSG00000198707		0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	375	0.00	0	T	NM_025114		88508925	88508925	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	missense	187	10.48	22	SNP	1.000	C
CEP350	9857	genome.wustl.edu	37	1	179961337	179961337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:179961337G>T	ENST00000367607.3	+	5	794	c.376G>T	c.(376-378)Gaa>Taa	p.E126*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	126					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGAATTTCGTGAACCTTTGGT	0.363																																						dbGAP											0													36.0	34.0	35.0					1																	179961337		2197	4290	6487	-	-	-	SO:0001587	stop_gained	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.376G>T	1.37:g.179961337G>T	ENSP00000356579:p.Glu126*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E126*	ENST00000367607.3	37	c.376	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226593	0.58668	.	.	ENSG00000135837	ENST00000367607;ENST00000491495;ENST00000357434	.	.	.	5.64	5.64	0.86602	.	0.432703	0.19195	N	0.120336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8358	0.88696	0.0:0.0:1.0:0.0	.	.	.	.	X	126;100;125	.	.	E	+	1	0	CEP350	178227960	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.316000	0.65815	2.817000	0.96982	0.643000	0.83706	GAA	CEP350	-	NULL	ENSG00000135837		0.363	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	206	0.00	0	G	NM_014810		179961337	179961337	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	nonsense	151	17.74	33	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	180053275	180053275	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:180053275C>T	ENST00000367607.3	+	31	6665	c.6247C>T	c.(6247-6249)Ctg>Ttg	p.L2083L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2083					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAGGAAAGACTGAAAGCCCA	0.413																																						dbGAP											0													74.0	69.0	71.0					1																	180053275		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6247C>T	1.37:g.180053275C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.T257I	ENST00000367607.3	37	c.770	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	C	9.513	1.106343	0.20632	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.39	3.52	0.40303	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54596	-0.8270	4	.	.	.	.	9.9008	0.41346	0.0:0.7804:0.0:0.2196	.	.	.	.	I	257	.	.	T	+	2	0	CEP350	178319898	0.976000	0.34144	0.993000	0.49108	0.998000	0.95712	2.452000	0.44961	0.647000	0.30713	0.555000	0.69702	ACT	CEP350	-	NULL	ENSG00000135837		0.413	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	347	0.00	0	C	NM_014810		180053275	180053275	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429851	ensembl	human	novel	69_37n	missense	357	12.83	53	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	180062132	180062132	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:180062132C>A	ENST00000367607.3	+	34	7310	c.6892C>A	c.(6892-6894)Ctt>Att	p.L2298I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2298					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATCTGAAATTCTTTCAAAGAA	0.318																																						dbGAP											0													18.0	19.0	19.0					1																	180062132		2190	4289	6479	-	-	-	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6892C>A	1.37:g.180062132C>A	ENSP00000356579:p.Leu2298Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L2298I	ENST00000367607.3	37	c.6892	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.699|9.699	1.154080|1.154080	0.21371|0.21371	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.57752|.	0.38|.	5.73|5.73	2.64|2.64	0.31445|0.31445	.|.	0.598172|.	0.13671|.	N|.	0.370906|.	T|T	0.23806|0.23806	0.0576|0.0576	N|N	0.24115|0.24115	0.695|0.695	0.28149|0.28149	N|N	0.929462|0.929462	B;B|.	0.13145|.	0.007;0.004|.	B;B|.	0.12156|.	0.007;0.004|.	T|T	0.19647|0.19647	-1.0299|-1.0299	9|5	.|.	.|.	.|.	.|.	5.7376|5.7376	0.18075|0.18075	0.131:0.5783:0.2176:0.0731|0.131:0.5783:0.2176:0.0731	.|.	2298;2298|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	I|Y	2298|472	ENSP00000356579:L2298I|.	.|.	L|S	+|+	1|2	0|0	CEP350|CEP350	178328755|178328755	0.370000|0.370000	0.25047|0.25047	0.998000|0.998000	0.56505|0.56505	0.920000|0.920000	0.55202|0.55202	-0.079000|-0.079000	0.11357|0.11357	0.714000|0.714000	0.32081|0.32081	0.655000|0.655000	0.94253|0.94253	CTT|TCT	CEP350	-	NULL	ENSG00000135837		0.318	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	52	0.00	0	C	NM_014810		180062132	180062132	+1	no_errors	ENST00000367607	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.992	A
CEP44	80817	genome.wustl.edu	37	4	175231185	175231185	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:175231185C>T	ENST00000503780.1	+	8	1277	c.863C>T	c.(862-864)aCa>aTa	p.T288I	CEP44_ENST00000296519.4_Missense_Mutation_p.T288I|CEP44_ENST00000426172.1_Missense_Mutation_p.T288I|CEP44_ENST00000457424.2_Missense_Mutation_p.T288I	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	288						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						CTTCTTGAAACAGAAATGCTT	0.289																																						dbGAP											0													85.0	90.0	88.0					4																	175231185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.863C>T	4.37:g.175231185C>T	ENSP00000423153:p.Thr288Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	NULL	p.T288I	ENST00000503780.1	37	c.863	CCDS34106.1	4	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284716	0.80803	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000426172;ENST00000296519	T;T;T;T	0.65364	-0.06;-0.15;-0.15;-0.06	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000006	T	0.79862	0.4519	M	0.72894	2.215	0.49798	D	0.99982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81326	-0.0983	10	0.87932	D	0	.	19.529	0.95219	0.0:1.0:0.0:0.0	.	288;288	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	I	288	ENSP00000423153:T288I;ENSP00000389427:T288I;ENSP00000408221:T288I;ENSP00000296519:T288I	ENSP00000296519:T288I	T	+	2	0	CEP44	175467760	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.311000	0.65786	2.604000	0.88044	0.585000	0.79938	ACA	CEP44	-	NULL	ENSG00000164118		0.289	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP44	HGNC	protein_coding	OTTHUMT00000362109.2	263	0.00	0	C	NM_030633		175231185	175231185	+1	no_errors	ENST00000426172	ensembl	human	known	69_37n	missense	220	14.40	37	SNP	1.000	T
CEP63	80254	genome.wustl.edu	37	3	134280304	134280304	+	Missense_Mutation	SNP	G	G	A	rs369310177		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:134280304G>A	ENST00000337090.3	+	15	2212	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	CEP63_ENST00000332047.5_Missense_Mutation_p.R472H|CEP63_ENST00000513612.2_Missense_Mutation_p.R680H|CEP63_ENST00000606977.1_Missense_Mutation_p.R680H|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Missense_Mutation_p.R518H			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	680					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATTCTAGAGCGCTTGGATGCC	0.413																																						dbGAP											0													128.0	122.0	124.0					3																	134280304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.2039G>A	3.37:g.134280304G>A	ENSP00000336524:p.Arg680His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	NULL	p.R680H	ENST00000337090.3	37	c.2039	CCDS3086.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955521	0.92726	.	.	ENSG00000182923	ENST00000332047;ENST00000337090;ENST00000383229;ENST00000513612	T;T;T;T	0.34667	1.35;2.03;1.35;2.03	6.16	6.16	0.99307	.	0.123452	0.50627	D	0.000111	T	0.56978	0.2022	L	0.50333	1.59	0.42385	D	0.992508	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.966;0.966	T	0.53885	-0.8375	10	0.66056	D	0.02	-8.1468	18.6329	0.91366	0.0:0.0:1.0:0.0	.	680;518;472	Q96MT8;Q96MT8-2;Q96MT8-3	CEP63_HUMAN;.;.	H	472;680;518;680	ENSP00000328382:R472H;ENSP00000336524:R680H;ENSP00000372716:R518H;ENSP00000426129:R680H	ENSP00000328382:R472H	R	+	2	0	CEP63	135762994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.710000	0.68392	2.937000	0.99478	0.650000	0.86243	CGC	CEP63	-	NULL	ENSG00000182923		0.413	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP63	HGNC	protein_coding	OTTHUMT00000470139.1	852	0.00	0	G	NM_025180		134280304	134280304	+1	no_errors	ENST00000337090	ensembl	human	known	69_37n	missense	616	29.11	255	SNP	1.000	A
CEP70	80321	genome.wustl.edu	37	3	138224288	138224288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:138224288G>T	ENST00000264982.3	-	13	1336	c.1070C>A	c.(1069-1071)tCa>tAa	p.S357*	CEP70_ENST00000484888.1_Nonsense_Mutation_p.S357*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.S357*|CEP70_ENST00000489254.1_Nonsense_Mutation_p.S205*|CEP70_ENST00000542237.1_Nonsense_Mutation_p.S337*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	357					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTGGATAATTGAATTGATGCT	0.303																																						dbGAP											0													75.0	84.0	81.0					3																	138224288		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1070C>A	3.37:g.138224288G>T	ENSP00000264982:p.Ser357*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Nonsense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S357*	ENST00000264982.3	37	c.1070	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843132	0.51057	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	.	.	.	5.14	2.31	0.28768	.	0.241718	0.35124	N	0.003423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1032	4.504	0.11878	0.1831:0.0:0.6406:0.1764	.	.	.	.	X	357;337;205;357;339;357	.	ENSP00000264982:S357X	S	-	2	0	CEP70	139706978	1.000000	0.71417	0.909000	0.35828	0.000000	0.00434	4.490000	0.60319	0.398000	0.25338	-0.142000	0.14014	TCA	CEP70	-	NULL	ENSG00000114107		0.303	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	79	0.00	0	G	NM_024491		138224288	138224288	-1	no_errors	ENST00000264982	ensembl	human	known	69_37n	nonsense	40	29.82	17	SNP	0.962	T
CEP70	80321	genome.wustl.edu	37	3	138256090	138256090	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:138256090G>A	ENST00000264982.3	-	7	831	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	CEP70_ENST00000484888.1_Missense_Mutation_p.R189C|CEP70_ENST00000481834.1_Missense_Mutation_p.R189C|CEP70_ENST00000489254.1_Missense_Mutation_p.R37C|CEP70_ENST00000542237.1_Missense_Mutation_p.R169C|CEP70_ENST00000464035.1_Missense_Mutation_p.R189C|CEP70_ENST00000478673.1_5'UTR	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	189					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTGACAATGCGATCTTCTTCC	0.378																																						dbGAP											0													168.0	144.0	152.0					3																	138256090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.565C>T	3.37:g.138256090G>A	ENSP00000264982:p.Arg189Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R189C	ENST00000264982.3	37	c.565	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552524	0.65425	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T;T	0.68331	0.33;0.37;-0.06;0.33;0.36;0.27;-0.29;-0.32;-0.3	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.79764	0.4502	M	0.71581	2.175	0.43114	D	0.994827	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.992;0.992;0.992	T	0.82172	-0.0589	10	0.87932	D	0	-4.4967	13.0477	0.58937	0.0:0.0:1.0:0.0	.	37;169;189;189	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	C	189;169;37;189;171;189;168;169;189	ENSP00000264982:R189C;ENSP00000444128:R169C;ENSP00000417821:R37C;ENSP00000419231:R189C;ENSP00000419833:R171C;ENSP00000417465:R189C;ENSP00000418131:R168C;ENSP00000417819:R169C;ENSP00000419743:R189C	ENSP00000264982:R189C	R	-	1	0	CEP70	139738780	0.995000	0.38212	0.527000	0.27925	0.823000	0.46562	4.947000	0.63583	2.452000	0.82932	0.655000	0.94253	CGC	CEP70	-	NULL	ENSG00000114107		0.378	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	292	0.00	0	G	NM_024491		138256090	138256090	-1	no_errors	ENST00000264982	ensembl	human	known	69_37n	missense	245	27.86	95	SNP	0.478	A
CEP72	55722	genome.wustl.edu	37	5	644469	644469	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:644469C>T	ENST00000264935.5	+	10	1685	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	532					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGTTAAAATCGCTTTTGTTG	0.383																																						dbGAP											0													154.0	155.0	155.0					5																	644469		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1595C>T	5.37:g.644469C>T	ENSP00000264935:p.Ser532Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.S532L	ENST00000264935.5	37	c.1595	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	C	11.57	1.677819	0.29783	.	.	ENSG00000112877	ENST00000264935	T	0.30714	1.52	4.64	3.7	0.42460	.	0.298959	0.30101	N	0.010401	T	0.24160	0.0585	L	0.56769	1.78	0.22401	N	0.999131	D	0.58268	0.982	B	0.35039	0.194	T	0.40664	-0.9551	10	0.72032	D	0.01	-9.6685	10.1663	0.42882	0.0:0.7967:0.2033:0.0	.	532	Q9P209	CEP72_HUMAN	L	532	ENSP00000264935:S532L	ENSP00000264935:S532L	S	+	2	0	CEP72	697469	0.469000	0.25846	0.042000	0.18584	0.353000	0.29299	1.757000	0.38400	2.277000	0.76020	0.561000	0.74099	TCG	CEP72	-	NULL	ENSG00000112877		0.383	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	54	0.00	0	C	NM_018140		644469	644469	+1	no_errors	ENST00000264935	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	0.030	T
CEP78	84131	genome.wustl.edu	37	9	80855092	80855092	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:80855092A>C	ENST00000424347.2	+	2	696	c.407A>C	c.(406-408)gAt>gCt	p.D136A	CEP78_ENST00000376598.2_Missense_Mutation_p.D136A|CEP78_ENST00000277082.5_Missense_Mutation_p.D136A|CEP78_ENST00000415759.2_Missense_Mutation_p.D136A|CEP78_ENST00000376597.4_Missense_Mutation_p.D136A			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	136					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGAGAGAGGGATTTAACTATT	0.348																																						dbGAP											0													92.0	87.0	88.0					9																	80855092		1834	4089	5923	-	-	-	SO:0001583	missense	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.407A>C	9.37:g.80855092A>C	ENSP00000411284:p.Asp136Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.D136A	ENST00000424347.2	37	c.407		9	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836460	0.71373	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.7	5.7	0.88788	.	0.060963	0.64402	D	0.000009	T	0.68778	0.3038	M	0.76574	2.34	0.50813	D	0.999892	D;D;D;D	0.89917	0.999;1.0;1.0;0.979	D;D;D;P	0.87578	0.947;0.996;0.998;0.625	T	0.71807	-0.4481	10	0.59425	D	0.04	-23.182	15.1453	0.72647	1.0:0.0:0.0:0.0	.	49;136;136;136	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	A	136	ENSP00000411284:D136A;ENSP00000399286:D136A;ENSP00000365782:D136A;ENSP00000277082:D136A;ENSP00000365783:D136A	ENSP00000277082:D136A	D	+	2	0	CEP78	80044912	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.390000	0.90175	2.171000	0.68590	0.528000	0.53228	GAT	CEP78	-	NULL	ENSG00000148019		0.348	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	259	0.00	0	A	XM_095991		80855092	80855092	+1	no_errors	ENST00000376597	ensembl	human	known	69_37n	missense	143	28.86	58	SNP	1.000	C
CEP85	64793	genome.wustl.edu	37	1	26584671	26584671	+	Nonsense_Mutation	SNP	C	C	T	rs143678426		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:26584671C>T	ENST00000252992.4	+	6	1206	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	CEP85_ENST00000451429.2_Nonsense_Mutation_p.R308*	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	359						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.R359*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCAGAAAGTGCGAGAGAGCGA	0.557																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											122.0	111.0	115.0					1																	26584671		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1075C>T	1.37:g.26584671C>T	ENSP00000252992:p.Arg359*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Nonsense_Mutation	SNP	NULL	p.R359*	ENST00000252992.4	37	c.1075	CCDS277.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.115993	0.94339	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	.	.	.	6.04	3.04	0.35103	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1751	14.8729	0.70471	0.5231:0.4769:0.0:0.0	.	.	.	.	X	308;359	.	ENSP00000252992:R359X	R	+	1	2	CEP85	26457258	0.749000	0.28305	0.954000	0.39281	0.970000	0.65996	1.418000	0.34782	0.371000	0.24564	-0.311000	0.09066	CGA	CEP85	-	NULL	ENSG00000130695		0.557	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	133	0.00	0	C	NM_022778		26584671	26584671	+1	no_errors	ENST00000252992	ensembl	human	known	69_37n	nonsense	123	19.48	30	SNP	0.627	T
CEP95	90799	genome.wustl.edu	37	17	62515546	62515546	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:62515546G>T	ENST00000556440.2	+	6	1091	c.581G>T	c.(580-582)aGa>aTa	p.R194I	CEP95_ENST00000553412.1_Missense_Mutation_p.R30I	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	194						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTTTCTCTAAGAAGTAATGGT	0.368																																						dbGAP											0													130.0	122.0	124.0					17																	62515546		1870	4129	5999	-	-	-	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.581G>T	17.37:g.62515546G>T	ENSP00000450461:p.Arg194Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.R194I	ENST00000556440.2	37	c.581	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791581	0.90367	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.47177	1.01;0.85	5.92	5.92	0.95590	.	0.098474	0.64402	D	0.000002	T	0.70509	0.3232	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71341	-0.4622	10	0.87932	D	0	-20.7439	19.9198	0.97084	0.0:0.0:1.0:0.0	.	194	Q96GE4	CEP95_HUMAN	I	129;194;30	ENSP00000450461:R194I;ENSP00000450906:R30I	ENSP00000438458:R129I	R	+	2	0	CEP95	59946008	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.205000	0.58466	2.818000	0.97014	0.655000	0.94253	AGA	CEP95	-	NULL	ENSG00000258890		0.368	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	197	0.00	0	G	NM_138363		62515546	62515546	+1	no_errors	ENST00000556440	ensembl	human	known	69_37n	missense	134	14.65	23	SNP	1.000	T
CEP97	79598	genome.wustl.edu	37	3	101476833	101476833	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:101476833G>T	ENST00000341893.3	+	9	2135	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	CEP97_ENST00000494050.1_Missense_Mutation_p.E402D|CEP97_ENST00000327230.4_Missense_Mutation_p.E461D			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	461	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCAAATGAGAATTCTGTTC	0.423																																						dbGAP											0													90.0	91.0	90.0					3																	101476833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1383G>T	3.37:g.101476833G>T	ENSP00000342510:p.Glu461Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E461D	ENST00000341893.3	37	c.1383	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873822	0.51695	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.65732	-0.17;0.12;-0.03	5.37	4.49	0.54785	.	0.286445	0.39146	N	0.001444	T	0.62527	0.2435	L	0.29908	0.895	0.33742	D	0.619601	D;D;D	0.69078	0.991;0.981;0.997	P;P;P	0.60609	0.76;0.74;0.877	T	0.66779	-0.5837	10	0.19590	T	0.45	-3.8586	12.1133	0.53852	0.0801:0.0:0.9199:0.0	.	402;461;461	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	D	461;461;402	ENSP00000342510:E461D;ENSP00000325881:E461D;ENSP00000418185:E402D	ENSP00000325881:E461D	E	+	3	2	CEP97	102959523	0.996000	0.38824	0.848000	0.33437	0.315000	0.28087	1.922000	0.40045	1.252000	0.44001	0.305000	0.20034	GAG	CEP97	-	NULL	ENSG00000182504		0.423	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	HGNC	protein_coding	OTTHUMT00000353597.2	119	0.83	1	G	NM_024548		101476833	101476833	+1	no_errors	ENST00000327230	ensembl	human	known	69_37n	missense	113	11.72	15	SNP	0.983	T
CERS6	253782	genome.wustl.edu	37	2	169417829	169417829	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:169417829G>A	ENST00000305747.6	+	3	991	c.404G>A	c.(403-405)aGc>aAc	p.S135N	CERS6_ENST00000392687.4_Missense_Mutation_p.S135N	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	135	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTCTGTGAGAGCATGTAAGTT	0.468																																						dbGAP											0													116.0	110.0	112.0					2																	169417829		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.404G>A	2.37:g.169417829G>A	ENSP00000306579:p.Ser135Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M63|Q8N617	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain	p.S135N	ENST00000305747.6	37	c.404	CCDS2228.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410260	0.83340	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.85629	-2.01;-2.01	5.31	5.31	0.75309	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	M	0.67700	2.07	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.982	D	0.90541	0.4502	10	0.41790	T	0.15	-8.6038	19.3447	0.94358	0.0:0.0:1.0:0.0	.	135;135	Q32M63;Q6ZMG9	.;CERS6_HUMAN	N	135	ENSP00000306579:S135N;ENSP00000376453:S135N	ENSP00000306579:S135N	S	+	2	0	CERS6	169126075	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.641000	0.89580	0.650000	0.86243	AGC	CERS6	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom	ENSG00000172292		0.468	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6	HGNC	protein_coding	OTTHUMT00000255235.2	401	0.00	0	G	NM_203463		169417829	169417829	+1	no_errors	ENST00000305747	ensembl	human	known	69_37n	missense	266	15.02	47	SNP	1.000	A
CERKL	375298	genome.wustl.edu	37	2	182403818	182403818	+	Splice_Site	SNP	C	C	A	rs75317760		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:182403818C>A	ENST00000339098.5	-	13	1616		c.e13+1		CERKL_ENST00000409440.3_Splice_Site|CERKL_ENST00000374969.2_Splice_Site|CERKL_ENST00000410087.3_Splice_Site|CERKL_ENST00000374970.2_Splice_Site			Q49MI3	CERKL_HUMAN	ceramide kinase-like						negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AATAGACTTACCTAATATGGA	0.378																																						dbGAP											0													127.0	122.0	124.0					2																	182403818		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1616+1G>T	2.37:g.182403818C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Splice_Site	SNP	-	e13+1	ENST00000339098.5	37	c.1616+1	CCDS42789.1	2	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446356	0.63178	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CERKL	182112063	1.000000	0.71417	0.999000	0.59377	0.556000	0.35491	6.167000	0.71902	2.736000	0.93811	0.655000	0.94253	.	CERKL	-	-	ENSG00000188452		0.378	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERKL	HGNC	protein_coding	OTTHUMT00000334811.1	357	0.28	1	C		Intron	182403818	182403818	-1	no_errors	ENST00000339098	ensembl	human	known	69_37n	splice_site	227	12.02	31	SNP	1.000	A
CES1	1066	genome.wustl.edu	37	16	55844541	55844541	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:55844541C>A	ENST00000361503.4	-	11	1333	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	CES1_ENST00000360526.3_Missense_Mutation_p.E402D|CES1_ENST00000422046.2_Missense_Mutation_p.E400D			P23141	EST1_HUMAN	carboxylesterase 1	401					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CTAAGTATTTCTCAGTGGCTT	0.488																																					NSCLC(162;1801 2756 42904 52896)	dbGAP											0													168.0	178.0	175.0					16																	55844541		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1203G>T	16.37:g.55844541C>A	ENSP00000355193:p.Glu401Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.E402D	ENST00000361503.4	37	c.1206	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	5.521	0.281130	0.10458	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.68331	-0.32;-0.32;2.99	4.69	2.7	0.31948	Carboxylesterase, type B (1);	0.294494	0.29480	N	0.012035	T	0.50769	0.1635	L	0.35414	1.06	0.19575	N	0.999969	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.17722	0.005;0.019;0.003	T	0.39722	-0.9600	10	0.40728	T	0.16	.	6.5719	0.22543	0.0:0.7006:0.1975:0.1019	.	400;401;402	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	D	402;401;400;266	ENSP00000353720:E402D;ENSP00000355193:E401D;ENSP00000390492:E400D	ENSP00000353720:E402D	E	-	3	2	CES1	54402042	.	.	0.024000	0.17045	0.008000	0.06430	.	.	0.409000	0.25649	0.456000	0.33151	GAG	CES1	-	pfam_CarbesteraseB	ENSG00000198848		0.488	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	165	0.60	1	C	NM_001266		55844541	55844541	-1	no_errors	ENST00000360526	ensembl	human	known	69_37n	missense	94	35.17	51	SNP	0.255	A
CES5AP1	649264	genome.wustl.edu	37	22	23712613	23712613	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:23712613C>T	ENST00000415114.1	-	0	642									carboxylesterase 5A pseudogene 1																		TCCATGACGGCTTTGTGGAAT	0.498																																						dbGAP											0																																										-	-	-			0					22q11.23	2010-10-19			ENSG00000215478	ENSG00000215478			38516	pseudogene	pseudogene							Standard	NR_037839		Approved		uc021wms.1		OTTHUMG00000150651		22.37:g.23712613C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000415114.1	37	NULL		22																																																																																			CES5AP1	-	-	ENSG00000215478		0.498	CES5AP1-002	KNOWN	basic	processed_transcript	CES5AP1	HGNC	pseudogene	OTTHUMT00000319403.1	44	0.00	0	C			23712613	23712613	-1	no_errors	ENST00000415114	ensembl	human	known	69_37n	rna	47	22.58	14	SNP	1.000	T
CETN2	1069	genome.wustl.edu	37	X	151997150	151997150	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:151997150C>A	ENST00000370277.3	-	4	426	c.360G>T	c.(358-360)aaG>aaT	p.K120N	CETN2_ENST00000493482.1_5'UTR|NSDHL_ENST00000370274.3_5'Flank|NSDHL_ENST00000440023.1_5'Flank	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	120	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACGAAATCTTCCCAGTTT	0.393								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													116.0	101.0	106.0					X																	151997150		2203	4300	6503	-	-	-	SO:0001583	missense	0			X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.360G>T	X.37:g.151997150C>A	ENSP00000359300:p.Lys120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4T4|Q53XW1	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K120N	ENST00000370277.3	37	c.360	CCDS14716.1	X	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670522	0.67814	.	.	ENSG00000147400	ENST00000370277	T	0.39592	1.07	6.17	0.604	0.17547	EF-hand-like domain (1);	0.256758	0.36703	N	0.002443	T	0.43456	0.1248	M	0.69358	2.11	0.80722	D	1	P	0.49358	0.923	P	0.52710	0.707	T	0.32052	-0.9921	10	0.42905	T	0.14	.	1.5446	0.02562	0.1468:0.4092:0.1413:0.3027	.	120	P41208	CETN2_HUMAN	N	120	ENSP00000359300:K120N	ENSP00000359300:K120N	K	-	3	2	CETN2	151747806	0.999000	0.42202	0.014000	0.15608	0.932000	0.56968	0.635000	0.24629	0.034000	0.15491	-0.237000	0.12165	AAG	CETN2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000147400		0.393	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN2	HGNC	protein_coding	OTTHUMT00000061197.1	226	0.00	0	C	NM_004344		151997150	151997150	-1	no_errors	ENST00000370277	ensembl	human	known	69_37n	missense	169	11.98	23	SNP	0.965	A
CFHR2	3080	genome.wustl.edu	37	1	196887409	196887409	+	Intron	SNP	A	A	C	rs201313429		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:196887409A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.K160T|CFHR4_ENST00000367416.2_Missense_Mutation_p.K536T|CFHR4_ENST00000367418.2_Missense_Mutation_p.K290T|CFHR4_ENST00000251424.4_Missense_Mutation_p.K290T			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGTGACATAAAATATTATGCA	0.299																																						dbGAP											0													110.0	120.0	116.0					1																	196887409		2201	4299	6500	-	-	-	SO:0001627	intron_variant	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31176A>C	1.37:g.196887409A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K536T	ENST00000367421.3	37	c.1607		1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906213	0.33628	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.84730	-1.89;-1.89;-1.89	3.24	2.03	0.26663	Complement control module (1);	.	.	.	.	D	0.89750	0.6805	M	0.85373	2.75	0.09310	N	1	P;P;B	0.49358	0.923;0.698;0.274	P;B;B	0.58820	0.846;0.405;0.117	T	0.78545	-0.2163	9	0.32370	T	0.25	.	6.4121	0.21696	0.7466:0.2534:0.0:0.0	.	536;537;290	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	T	536;290;290;290	ENSP00000356386:K536T;ENSP00000356388:K290T;ENSP00000251424:K290T	ENSP00000251424:K290T	K	+	2	0	CFHR4	195154032	0.131000	0.22433	0.001000	0.08648	0.018000	0.09664	2.318000	0.43779	0.235000	0.21160	0.358000	0.22013	AAA	CFHR4	-	superfamily_Complement_control_module	ENSG00000134365		0.299	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		197	0.00	0	A	NM_005666		196887409	196887409	+1	no_errors	ENST00000367416	ensembl	human	known	69_37n	missense	178	10.10	20	SNP	0.005	C
CFHR5	81494	genome.wustl.edu	37	1	196977766	196977766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:196977766C>T	ENST00000256785.4	+	10	1772	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.R579*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	555	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R555*(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCACCATTTCGAGCAATCTG	0.358																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											114.0	105.0	108.0					1																	196977766		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1663C>T	1.37:g.196977766C>T	ENSP00000256785:p.Arg555*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK2	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R579*	ENST00000256785.4	37	c.1735	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159233	0.78226	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.43698	D	0.996158	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.276	0.60188	0.0:1.0:0.0:0.0	.	.	.	.	X	579;555	.	ENSP00000256785:R555X	R	+	1	2	CFHR5	195244389	0.001000	0.12720	0.213000	0.23690	0.017000	0.09413	0.362000	0.20284	2.267000	0.75376	0.561000	0.74099	CGA	CFHR5	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000134389		0.358	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	190	0.00	0	C	NM_030787		196977766	196977766	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	nonsense	150	10.71	18	SNP	0.793	T
CFL2	1073	genome.wustl.edu	37	14	35182700	35182700	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:35182700G>T	ENST00000341223.3	-	2	222	c.71C>A	c.(70-72)tCt>tAt	p.S24Y	CFL2_ENST00000556161.1_Missense_Mutation_p.S7Y|CFL2_ENST00000298159.6_Missense_Mutation_p.S24Y|CFL2_ENST00000555765.1_Missense_Mutation_p.S7Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	24	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CTCTTGTGTAGAAGATTTCCT	0.343																																						dbGAP											0													73.0	71.0	72.0					14																	35182700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.71C>A	14.37:g.35182700G>T	ENSP00000340635:p.Ser24Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5P4	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.S24Y	ENST00000341223.3	37	c.71	CCDS9650.1	14	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490777	0.44249	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	6.08	6.08	0.98989	Actin-binding, cofilin/tropomyosin type (3);	0.109676	0.64402	D	0.000004	D	0.89273	0.6668	M	0.65320	2	0.80722	D	1	P	0.42010	0.768	P	0.54815	0.761	D	0.88327	0.2966	10	0.66056	D	0.02	-7.6803	20.6634	0.99662	0.0:0.0:1.0:0.0	.	24	Q9Y281	COF2_HUMAN	Y	24;24;7;7	ENSP00000340635:S24Y;ENSP00000298159:S24Y;ENSP00000452451:S7Y;ENSP00000452188:S7Y	ENSP00000298159:S24Y	S	-	2	0	CFL2	34252451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	TCT	CFL2	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	ENSG00000165410		0.343	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CFL2	HGNC	protein_coding	OTTHUMT00000276639.1	108	0.00	0	G	NM_138638		35182700	35182700	-1	no_errors	ENST00000298159	ensembl	human	known	69_37n	missense	73	14.12	12	SNP	1.000	T
CFTR	1080	genome.wustl.edu	37	7	117232697	117232697	+	Missense_Mutation	SNP	G	G	A	rs397508381		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:117232697G>A	ENST00000003084.6	+	14	2608	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	CFTR_ENST00000454343.1_Missense_Mutation_p.E765K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	826			E -> K (in thoracic sarcoidosis).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGAAATTAACGAAGAAGACTT	0.373									Cystic Fibrosis																													dbGAP											0			GRCh37	CM980350	CFTR	M							54.0	56.0	55.0					7																	117232697		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2476G>A	7.37:g.117232697G>A	ENSP00000003084:p.Glu826Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.E826K	ENST00000003084.6	37	c.2476	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.354476	0.95830	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.96232	-3.95;-3.95;-3.95	5.15	5.15	0.70609	ABC transporter, transmembrane domain, type 1 (1);	0.090520	0.85682	D	0.000000	D	0.98002	0.9342	M	0.80847	2.515	0.80722	D	1	D	0.65815	0.995	D	0.67900	0.954	D	0.98241	1.0488	10	0.52906	T	0.07	-23.8668	18.972	0.92718	0.0:0.0:1.0:0.0	.	826	P13569	CFTR_HUMAN	K	826;765;796	ENSP00000003084:E826K;ENSP00000403677:E765K;ENSP00000389119:E796K	ENSP00000003084:E826K	E	+	1	0	CFTR	117019933	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.701000	0.91331	2.539000	0.85634	0.650000	0.86243	GAA	CFTR	-	superfamily_ABC_transptrTM_dom_typ1,tigrfam_cAMP_cl_channel	ENSG00000001626		0.373	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	51	0.00	0	G	NM_000492		117232697	117232697	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	missense	31	23.81	10	SNP	1.000	A
CFTR	1080	genome.wustl.edu	37	7	117254759	117254759	+	Missense_Mutation	SNP	G	G	A	rs397508568		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:117254759G>A	ENST00000003084.6	+	21	3592	c.3460G>A	c.(3460-3462)Gat>Aat	p.D1154N	CFTR_ENST00000454343.1_Missense_Mutation_p.D1093N|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1154	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CATAGATGTGGATAGCTTGGT	0.348									Cystic Fibrosis																													dbGAP											0													158.0	143.0	148.0					7																	117254759		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3460G>A	7.37:g.117254759G>A	ENSP00000003084:p.Asp1154Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,prints_CysFib_conduc_TM,pfscan_ABC_transporter_type1	p.W95*	ENST00000003084.6	37	c.285	CCDS5773.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.526761|5.526761	0.96431|0.96431	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.94280|.	-3.39;-3.39;-3.39|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78162|.	0.4240|.	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|.	0.76066|.	-0.3095|.	10|.	0.87932|.	D|.	0|.	-22.261|-22.261	20.2704|20.2704	0.98474|0.98474	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1154|.	P13569|.	CFTR_HUMAN|.	N|X	1154;1093;1124|95	ENSP00000003084:D1154N;ENSP00000403677:D1093N;ENSP00000389119:D1124N|.	ENSP00000003084:D1154N|.	D|W	+|+	1|3	0|0	CFTR|CFTR	117041995|117041995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.640000|9.640000	0.98453|0.98453	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GAT|TGG	CFTR	-	superfamily_ABC_transptrTM_dom_typ1,prints_CysFib_conduc_TM,pfscan_ABC_transporter_type1	ENSG00000001626		0.348	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	386	0.00	0	G	NM_000492		117254759	117254759	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000468795	ensembl	human	putative	69_37n	nonsense	191	11.57	25	SNP	1.000	A
CFTR	1080	genome.wustl.edu	37	7	117282581	117282581	+	Silent	SNP	C	C	T	rs1800129		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:117282581C>T	ENST00000003084.6	+	23	3939	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	CFTR_ENST00000454343.1_Silent_p.I1208I|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1269	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.I1269I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAATCCAGATCGATGGTGTGT	0.438									Cystic Fibrosis																													dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											128.0	125.0	126.0					7																	117282581		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3807C>T	7.37:g.117282581C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.I1269	ENST00000003084.6	37	c.3807	CCDS5773.1	7																																																																																			CFTR	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	206	0.00	0	C	NM_000492		117282581	117282581	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	silent	111	20.14	28	SNP	0.989	T
CGN	57530	genome.wustl.edu	37	1	151491301	151491301	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151491301G>T	ENST00000271636.7	+	2	439	c.306G>T	c.(304-306)gaG>gaT	p.E102D		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	96	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACTCCCTGAGAACCCCTACT	0.577																																						dbGAP											0													34.0	38.0	37.0					1																	151491301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.306G>T	1.37:g.151491301G>T	ENSP00000271636:p.Glu102Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.E102D	ENST00000271636.7	37	c.306	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479380	0.44044	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.69685	0.61;-0.42	5.06	1.05	0.20165	.	0.779497	0.12747	N	0.442499	T	0.36276	0.0961	L	0.54323	1.7	0.31932	N	0.612003	P	0.45348	0.856	B	0.37601	0.254	T	0.05194	-1.0900	10	0.22706	T	0.39	-19.5012	9.1718	0.37086	0.3806:0.0:0.6194:0.0	.	96	Q9P2M7	CING_HUMAN	D	102	ENSP00000410836:E102D;ENSP00000271636:E102D	ENSP00000271636:E102D	E	+	3	2	CGN	149757925	1.000000	0.71417	0.158000	0.22627	0.922000	0.55478	1.051000	0.30417	0.115000	0.18071	0.655000	0.94253	GAG	CGN	-	NULL	ENSG00000143375		0.577	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	106	0.00	0	G	NM_020770		151491301	151491301	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	missense	83	17.00	17	SNP	0.972	T
CGNL1	84952	genome.wustl.edu	37	15	57731327	57731327	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:57731327G>T	ENST00000281282.5	+	2	1208	c.1130G>T	c.(1129-1131)aGa>aTa	p.R377I		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	377	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGCGAAACAGAATTAATACA	0.428																																						dbGAP											0													71.0	75.0	73.0					15																	57731327		2192	4292	6484	-	-	-	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1130G>T	15.37:g.57731327G>T	ENSP00000281282:p.Arg377Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.R377I	ENST00000281282.5	37	c.1130	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057710	0.76074	.	.	ENSG00000128849	ENST00000281282	T	0.60672	0.17	5.79	5.79	0.91817	.	0.132497	0.33610	N	0.004735	T	0.77267	0.4105	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78272	-0.2268	10	0.87932	D	0	-27.3225	20.0473	0.97613	0.0:0.0:1.0:0.0	.	377	Q0VF96	CGNL1_HUMAN	I	377	ENSP00000281282:R377I	ENSP00000281282:R377I	R	+	2	0	CGNL1	55518619	1.000000	0.71417	0.671000	0.29857	0.416000	0.31233	9.454000	0.97621	2.722000	0.93159	0.655000	0.94253	AGA	CGNL1	-	NULL	ENSG00000128849		0.428	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	50	0.00	0	G	NM_032866		57731327	57731327	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	T
CHD1	1105	genome.wustl.edu	37	5	98218811	98218811	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:98218811C>T	ENST00000284049.3	-	18	2848	c.2699G>A	c.(2698-2700)cGa>cAa	p.R900Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	900	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.R900Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGCCCAATTCGATGGGCTCT	0.338																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											35.0	33.0	34.0					5																	98218811		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2699G>A	5.37:g.98218811C>T	ENSP00000284049:p.Arg900Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R900Q	ENST00000284049.3	37	c.2699	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.394381	0.96009	.	.	ENSG00000153922	ENST00000284049	D	0.97870	-4.58	5.27	5.27	0.74061	Helicase, C-terminal (3);	0.000000	0.29009	U	0.013428	D	0.99426	0.9797	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98113	1.0421	10	0.87932	D	0	.	19.2691	0.94002	0.0:1.0:0.0:0.0	.	900	O14646	CHD1_HUMAN	Q	900	ENSP00000284049:R900Q	ENSP00000284049:R900Q	R	-	2	0	CHD1	98246711	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	CGA	CHD1	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000153922		0.338	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	94	0.00	0	C	NM_001270		98218811	98218811	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	59	29.76	25	SNP	1.000	T
CHD1	1105	genome.wustl.edu	37	5	98224927	98224927	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:98224927C>A	ENST00000284049.3	-	15	2345	c.2196G>T	c.(2194-2196)agG>agT	p.R732S	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	732					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTGTAATTCCTAGTTAAAA	0.323																																						dbGAP											0													62.0	64.0	63.0					5																	98224927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2196G>T	5.37:g.98224927C>A	ENSP00000284049:p.Arg732Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R732S	ENST00000284049.3	37	c.2196	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898545	0.72639	.	.	ENSG00000153922	ENST00000284049	T	0.75477	-0.94	5.82	3.05	0.35203	SNF2-related (1);	0.000000	0.37261	U	0.002173	T	0.79741	0.4498	L	0.48362	1.52	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.78595	-0.2143	10	0.87932	D	0	.	10.3475	0.43913	0.0:0.7839:0.0:0.2161	.	732	O14646	CHD1_HUMAN	S	732	ENSP00000284049:R732S	ENSP00000284049:R732S	R	-	3	2	CHD1	98252827	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.643000	0.24750	0.367000	0.24454	0.650000	0.86243	AGG	CHD1	-	pfam_SNF2_N	ENSG00000153922		0.323	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	252	0.00	0	C	NM_001270		98224927	98224927	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	115	27.67	44	SNP	1.000	A
CHD1	1105	genome.wustl.edu	37	5	98229251	98229251	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:98229251C>A	ENST00000284049.3	-	13	2009	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	620	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGTCATCATTCTTTAATCGGT	0.353																																						dbGAP											0													94.0	106.0	102.0					5																	98229251		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1860G>T	5.37:g.98229251C>A	ENSP00000284049:p.Lys620Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K620N	ENST00000284049.3	37	c.1860	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604798	0.66445	.	.	ENSG00000153922	ENST00000284049	D	0.95205	-3.64	5.54	2.45	0.29901	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34802	U	0.003677	D	0.98317	0.9442	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96171	0.9123	10	0.87932	D	0	.	8.4241	0.32718	0.0:0.5086:0.0:0.4914	.	620	O14646	CHD1_HUMAN	N	620	ENSP00000284049:K620N	ENSP00000284049:K620N	K	-	3	2	CHD1	98257151	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.944000	0.29043	0.158000	0.19367	0.650000	0.86243	AAG	CHD1	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000153922		0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	102	0.00	0	C	NM_001270		98229251	98229251	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	1.000	A
CHD1	1105	genome.wustl.edu	37	5	98234419	98234419	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:98234419C>T	ENST00000284049.3	-	8	1284	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	379					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTGTAAGTTCTTGCTGGCAA	0.294																																						dbGAP											0													105.0	117.0	113.0					5																	98234419		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1135G>A	5.37:g.98234419C>T	ENSP00000284049:p.Glu379Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E379K	ENST00000284049.3	37	c.1135	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.645133	0.96704	.	.	ENSG00000153922	ENST00000284049	T	0.73575	-0.76	6.01	6.01	0.97437	Chromo domain-like (1);	0.000000	0.33732	U	0.004610	D	0.86522	0.5953	M	0.80982	2.52	0.80722	D	1	D	0.64830	0.994	P	0.60473	0.875	D	0.87053	0.2148	10	0.87932	D	0	.	20.5141	0.99211	0.0:1.0:0.0:0.0	.	379	O14646	CHD1_HUMAN	K	379	ENSP00000284049:E379K	ENSP00000284049:E379K	E	-	1	0	CHD1	98262319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.850000	0.98022	0.655000	0.94253	GAA	CHD1	-	superfamily_Chromodomain-like	ENSG00000153922		0.294	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	113	0.00	0	C	NM_001270		98234419	98234419	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	1.000	T
CHD2	1106	genome.wustl.edu	37	15	93470541	93470541	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:93470541G>A	ENST00000394196.4	+	4	1430	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CHD2_ENST00000536619.1_Missense_Mutation_p.R134Q|CHD2_ENST00000557381.1_Missense_Mutation_p.R121Q|CHD2_ENST00000420239.2_Missense_Mutation_p.R121Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	121	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAACCATCGCGATTTAATATT	0.373																																						dbGAP											0													94.0	90.0	91.0					15																	93470541		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.362G>A	15.37:g.93470541G>A	ENSP00000377747:p.Arg121Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G482|Q96IP5	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.R121Q	ENST00000394196.4	37	c.362	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	35	5.568069	0.96540	.	.	ENSG00000173575	ENST00000556722;ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	D;D;T;T	0.89875	-2.58;-2.58;0.89;0.87	6.03	6.03	0.97812	.	0.000000	0.29015	U	0.013403	D	0.90950	0.7155	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.79108	0.978;0.978;0.99;0.992	D	0.87781	0.2612	10	0.22109	T	0.4	-29.2891	20.5568	0.99304	0.0:0.0:1.0:0.0	.	134;121;121;121	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	Q	121;121;121;121;134	ENSP00000377747:R121Q;ENSP00000451366:R121Q;ENSP00000406581:R121Q;ENSP00000443618:R134Q	ENSP00000377747:R121Q	R	+	2	0	CHD2	91271545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.188000	0.94921	2.861000	0.98227	0.655000	0.94253	CGA	CHD2	-	NULL	ENSG00000173575		0.373	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	364	0.00	0	G	NM_001271		93470541	93470541	+1	no_errors	ENST00000420239	ensembl	human	known	69_37n	missense	182	32.34	87	SNP	1.000	A
CHD2	1106	genome.wustl.edu	37	15	93496780	93496780	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:93496780G>A	ENST00000394196.4	+	14	2764	c.1696G>A	c.(1696-1698)Ggt>Agt	p.G566S	CHD2_ENST00000557381.1_Missense_Mutation_p.G566S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	566	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGTTTACATAGGTGACCTGAT	0.408																																						dbGAP											0													98.0	90.0	93.0					15																	93496780		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1696G>A	15.37:g.93496780G>A	ENSP00000377747:p.Gly566Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G566S	ENST00000394196.4	37	c.1696	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	36	5.775361	0.96922	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.95482	-3.72;-3.72	5.68	5.68	0.88126	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34676	U	0.003763	D	0.98321	0.9443	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98936	1.0789	10	0.87932	D	0	-19.5414	19.7923	0.96464	0.0:0.0:1.0:0.0	.	566;566	O14647;O14647-2	CHD2_HUMAN;.	S	566	ENSP00000377747:G566S;ENSP00000451366:G566S	ENSP00000377747:G566S	G	+	1	0	CHD2	91297784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.693000	0.91896	0.655000	0.94253	GGT	CHD2	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000173575		0.408	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	240	0.00	0	G	NM_001271		93496780	93496780	+1	no_errors	ENST00000557381	ensembl	human	putative	69_37n	missense	157	10.73	19	SNP	1.000	A
CHD2	1106	genome.wustl.edu	37	15	93536106	93536106	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:93536106G>A	ENST00000394196.4	+	28	4541	c.3473G>A	c.(3472-3474)cGt>cAt	p.R1158H	CHD2_ENST00000557381.1_Missense_Mutation_p.R1158H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1158					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCATAGCACGTGATGCTGAG	0.517																																						dbGAP											0													96.0	83.0	88.0					15																	93536106		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3473G>A	15.37:g.93536106G>A	ENSP00000377747:p.Arg1158His	Somatic		WXS	Illumina GAIIx	Phase_IV	C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1158H	ENST00000394196.4	37	c.3473	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186117	0.57909	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.79554	-1.28;-1.28	6.16	5.25	0.73442	.	0.000000	0.31821	U	0.007004	D	0.86577	0.5966	L	0.59436	1.845	0.80722	D	1	B;D	0.76494	0.002;0.999	B;D	0.64042	0.002;0.921	D	0.86477	0.1789	10	0.44086	T	0.13	-14.4045	15.6785	0.77349	0.0653:0.0:0.9347:0.0	.	1158;1158	O14647;O14647-2	CHD2_HUMAN;.	H	1158	ENSP00000377747:R1158H;ENSP00000451366:R1158H	ENSP00000377747:R1158H	R	+	2	0	CHD2	91337110	1.000000	0.71417	0.107000	0.21349	0.900000	0.52787	9.338000	0.96553	1.621000	0.50320	0.650000	0.86243	CGT	CHD2	-	NULL	ENSG00000173575		0.517	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	186	0.00	0	G	NM_001271		93536106	93536106	+1	no_errors	ENST00000557381	ensembl	human	putative	69_37n	missense	104	17.32	22	SNP	0.989	A
CHD3	1107	genome.wustl.edu	37	17	7800445	7800445	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7800445G>T	ENST00000330494.7	+	11	1902	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N	CHD3_ENST00000380358.4_Missense_Mutation_p.K643N|CHD3_ENST00000358181.4_Missense_Mutation_p.K584N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	584	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAGCGGAAGAATGACATGG	0.507																																						dbGAP											0													90.0	81.0	84.0					17																	7800445		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1752G>T	17.37:g.7800445G>T	ENSP00000332628:p.Lys584Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	pfam_CHD_N,pfam_Znf_PHD-finger,pfam_Chromo_domain,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,pfscan_Znf_PHD-finger,pfscan_Chromo_domain/shadow	p.E455*	ENST00000330494.7	37	c.1363	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.925858|2.925858	0.52759|0.52759	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;T;T	.|0.50001	.|0.76;0.76;0.76	5.75|5.75	2.7|2.7	0.31948|0.31948	.|Chromo domain-like (1);Chromo domain/shadow (2);	.|0.000000	.|0.47093	.|D	.|0.000249	.|T	.|0.72581	.|0.3478	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.83275	.|0.996;0.991;0.991	.|T	.|0.75531	.|-0.3285	.|10	.|0.87932	.|D	.|0	-30.8777|-30.8777	10.5393|10.5393	0.45024|0.45024	0.2101:0.0:0.7899:0.0|0.2101:0.0:0.7899:0.0	.|.	.|584;584;643	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	X|N	455|643;584;584	.|ENSP00000369716:K643N;ENSP00000350907:K584N;ENSP00000332628:K584N	.|ENSP00000332628:K584N	E|K	+|+	1|3	0|2	CHD3|CHD3	7741170|7741170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.025000|2.025000	0.41059|0.41059	0.358000|0.358000	0.24211|0.24211	0.549000|0.549000	0.68633|0.68633	GAA|AAG	CHD3	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000170004		0.507	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	106	0.00	0	G	NM_001005273		7800445	7800445	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452447	ensembl	human	putative	69_37n	nonsense	67	14.10	11	SNP	1.000	T
CHD4	1108	genome.wustl.edu	37	12	6707238	6707238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6707238G>A	ENST00000357008.2	-	12	1877	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.R565*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.R572*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R569*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	572	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGATAGTTTCGGAACATCACC	0.463																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													128.0	129.0	129.0					12																	6707238		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1714C>T	12.37:g.6707238G>A	ENSP00000349508:p.Arg572*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	Nonsense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R572*	ENST00000357008.2	37	c.1714	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.816746	0.98964	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	4.21	3.28	0.37604	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2404	12.915	0.58200	0.0:0.0:0.8308:0.1692	.	.	.	.	X	569;565;572;572;546	.	ENSP00000312419:R572X	R	-	1	2	CHD4	6577499	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.477000	0.60223	0.921000	0.36994	0.467000	0.42956	CGA	CHD4	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000111642		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		69	0.00	0	G	NM_001273		6707238	6707238	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	nonsense	71	16.47	14	SNP	1.000	A
CHD5	26038	genome.wustl.edu	37	1	6191787	6191787	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:6191787G>T	ENST00000262450.3	-	21	3265	c.3166C>A	c.(3166-3168)Ctg>Atg	p.L1056M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGTCCTCCAGGAGGTCCAGC	0.622																																						dbGAP											0													83.0	76.0	78.0					1																	6191787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3166C>A	1.37:g.6191787G>T	ENSP00000262450:p.Leu1056Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1056M	ENST00000262450.3	37	c.3166	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.019005	0.54576	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.96041	-3.89	5.09	3.2	0.36748	Helicase, C-terminal (2);	0.208185	0.31834	N	0.006996	D	0.96153	0.8746	L	0.56199	1.76	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.94655	0.7843	10	0.46703	T	0.11	-3.9899	10.198	0.43067	0.0757:0.1375:0.7868:0.0	.	1056	Q8TDI0	CHD5_HUMAN	M	1056;572;464;464	ENSP00000262450:L1056M	ENSP00000262450:L1056M	L	-	1	2	CHD5	6114374	1.000000	0.71417	0.571000	0.28486	0.580000	0.36256	3.293000	0.51779	0.645000	0.30675	-0.217000	0.12591	CTG	CHD5	-	smart_Helicase_C,pfscan_Helicase_C	ENSG00000116254		0.622	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	60	0.00	0	G	NM_015557		6191787	6191787	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.995	T
CHD6	84181	genome.wustl.edu	37	20	40111980	40111980	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:40111980C>T	ENST00000373233.3	-	16	2614	c.2437G>A	c.(2437-2439)Gac>Aac	p.D813N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTAGGATGTCGAGGCAGCGC	0.453																																						dbGAP											0													97.0	87.0	91.0					20																	40111980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2437G>A	20.37:g.40111980C>T	ENSP00000362330:p.Asp813Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D813N	ENST00000373233.3	37	c.2437	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.839733	0.97009	.	.	ENSG00000124177	ENST00000373233	T	0.78126	-1.15	5.56	5.56	0.83823	Helicase, C-terminal (2);	0.000000	0.64402	D	0.000007	D	0.83663	0.5303	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	D	0.84690	0.0722	10	0.87932	D	0	-21.4272	19.8835	0.96906	0.0:1.0:0.0:0.0	.	813	Q8TD26	CHD6_HUMAN	N	813	ENSP00000362330:D813N	ENSP00000362330:D813N	D	-	1	0	CHD6	39545394	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	7.750000	0.85110	2.777000	0.95525	0.655000	0.94253	GAC	CHD6	-	smart_Helicase_C,pfscan_Helicase_C	ENSG00000124177		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	265	0.00	0	C			40111980	40111980	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	138	14.81	24	SNP	1.000	T
CHD8	57680	genome.wustl.edu	37	14	21869062	21869062	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21869062G>A	ENST00000557364.1	-	22	4605	c.4342C>T	c.(4342-4344)Cgg>Tgg	p.R1448W	CHD8_ENST00000430710.3_Missense_Mutation_p.R1169W|CHD8_ENST00000399982.2_Missense_Mutation_p.R1448W|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1448					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTTCCACCCGAAAGCAGTCA	0.502																																						dbGAP											0													105.0	102.0	103.0					14																	21869062		1992	4183	6175	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4342C>T	14.37:g.21869062G>A	ENSP00000451601:p.Arg1448Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1448W	ENST00000557364.1	37	c.4342	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.008663|3.008663	0.54361|0.54361	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.71341|.	-0.56;-0.56;-0.56|.	5.04|5.04	4.12|4.12	0.48240|0.48240	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74928|0.74928	0.3781|0.3781	M|M	0.83953|0.83953	2.67|2.67	0.44104|0.44104	D|D	0.99687|0.99687	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77557|.	0.952;0.99|.	T|T	0.76737|0.76737	-0.2849|-0.2849	10|5	0.87932|.	D|.	0|.	-5.4717|-5.4717	11.4662|11.4662	0.50241|0.50241	0.0:0.0:0.6733:0.3267|0.0:0.0:0.6733:0.3267	.|.	1448;1169|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	W|L	1169;1448;1168;1448|673	ENSP00000406288:R1169W;ENSP00000382863:R1448W;ENSP00000451601:R1448W|.	ENSP00000262707:R1168W|.	R|S	-|-	1|2	2|0	CHD8|CHD8	20938902|20938902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.849000|1.849000	0.39318|0.39318	1.282000|1.282000	0.44496|0.44496	0.655000|0.655000	0.94253|0.94253	CGG|TCG	CHD8	-	NULL	ENSG00000100888		0.502	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	176	0.00	0	G	NM_020920		21869062	21869062	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	118	10.61	14	SNP	1.000	A
CHD8	57680	genome.wustl.edu	37	14	21883102	21883102	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21883102C>A	ENST00000557364.1	-	8	2282	c.2019G>T	c.(2017-2019)aaG>aaT	p.K673N	CHD8_ENST00000430710.3_Missense_Mutation_p.K394N|CHD8_ENST00000399982.2_Missense_Mutation_p.K673N|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	673	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGTACTAGTTCTTGTACTTGA	0.383																																						dbGAP											0													93.0	87.0	89.0					14																	21883102		1831	4081	5912	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2019G>T	14.37:g.21883102C>A	ENSP00000451601:p.Lys673Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K673N	ENST00000557364.1	37	c.2019	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583982	0.65992	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.76186	-1.0;-1.0;-1.0	5.01	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.88640	2.97	0.58432	D	0.999994	D	0.71674	0.998	D	0.71656	0.974	D	0.88710	0.3222	10	0.72032	D	0.01	-16.7223	12.2813	0.54765	0.0:0.9168:0.0:0.0832	.	394	Q9HCK8-2	.	N	394;673;393;673	ENSP00000406288:K394N;ENSP00000382863:K673N;ENSP00000451601:K673N	ENSP00000262707:K393N	K	-	3	2	CHD8	20952942	0.978000	0.34361	1.000000	0.80357	0.976000	0.68499	0.137000	0.15995	1.335000	0.45486	0.655000	0.94253	AAG	CHD8	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000100888		0.383	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	339	0.00	0	C	NM_020920		21883102	21883102	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	300	14.04	49	SNP	1.000	A
CHD9	80205	genome.wustl.edu	37	16	53190576	53190576	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:53190576C>A	ENST00000398510.3	+	1	662	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	CHD9_ENST00000566029.1_Missense_Mutation_p.S192Y|CHD9_ENST00000447540.1_Missense_Mutation_p.S192Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S192Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	192					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGGCAGAATTCTCTTAGCCAG	0.393																																						dbGAP											0													113.0	109.0	110.0					16																	53190576		1833	4084	5917	-	-	-	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.575C>A	16.37:g.53190576C>A	ENSP00000381522:p.Ser192Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S192Y	ENST00000398510.3	37	c.575		16	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125718	0.56721	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86366	-2.03;-2.11	5.86	4.88	0.63580	.	0.100919	0.44285	D	0.000463	D	0.86830	0.6027	L	0.36672	1.1	0.35435	D	0.794415	P;P;P;P	0.51351	0.589;0.454;0.944;0.589	B;B;P;B	0.51135	0.444;0.259;0.66;0.444	D	0.90894	0.4763	10	0.72032	D	0.01	-15.2609	16.3925	0.83544	0.1322:0.8678:0.0:0.0	.	192;192;192;192	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	Y	192	ENSP00000396345:S192Y;ENSP00000381522:S192Y	ENSP00000381522:S192Y	S	+	2	0	CHD9	51748077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.761000	0.47589	2.776000	0.95493	0.650000	0.86243	TCT	CHD9	-	NULL	ENSG00000177200		0.393	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	145	0.00	0	C	NM_025134		53190576	53190576	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	missense	99	23.26	30	SNP	1.000	A
CHGA	1113	genome.wustl.edu	37	14	93390551	93390551	+	Silent	SNP	G	G	A	rs9658640		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:93390551G>A	ENST00000216492.5	+	2	334	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_ENST00000553866.1_Intron|CHGA_ENST00000334654.4_Silent_p.A18A	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	18					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	dbGAP											0													50.0	49.0	49.0					14																	93390551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.54G>A	14.37:g.93390551G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	pfam_Granin,prints_Chromogranin_AB	p.A18	ENST00000216492.5	37	c.54	CCDS9906.1	14																																																																																			CHGA	-	pfam_Granin	ENSG00000100604		0.582	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	73	0.00	0	G	NM_001275		93390551	93390551	+1	no_errors	ENST00000216492	ensembl	human	known	69_37n	silent	35	25.53	12	SNP	1.000	A
CHIT1	1118	genome.wustl.edu	37	1	203186161	203186161	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:203186161G>A	ENST00000367229.1	-	11	1291	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Silent_p.F400F|CHIT1_ENST00000535569.1_Silent_p.F410F	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	419	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGCCCTGGCAGAACGTGTCTT	0.592											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													90.0	91.0	91.0					1																	203186161		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1257C>T	1.37:g.203186161G>A		Somatic	2135	WXS	Illumina GAIIx	Phase_IV	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.F419	ENST00000367229.1	37	c.1257	CCDS1436.1	1																																																																																			CHIT1	-	superfamily_Chitin-bd_dom,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	ENSG00000133063		0.592	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	HGNC	protein_coding	OTTHUMT00000100275.2	154	0.00	0	G	NM_003465		203186161	203186161	-1	no_errors	ENST00000367229	ensembl	human	known	69_37n	silent	78	22.00	22	SNP	1.000	A
CHIT1	1118	genome.wustl.edu	37	1	203186191	203186191	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:203186191C>A	ENST00000367229.1	-	11	1261	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.E390D|CHIT1_ENST00000535569.1_Missense_Mutation_p.E400D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	409					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGGGGCCATGCTCAGGTTCAG	0.567											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													79.0	79.0	79.0					1																	203186191		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1227G>T	1.37:g.203186191C>A	ENSP00000356198:p.Glu409Asp	Somatic	2135	WXS	Illumina GAIIx	Phase_IV	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.E409D	ENST00000367229.1	37	c.1227	CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263920	0.39995	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06294	3.45;3.32;3.32	4.22	4.22	0.49857	.	1.404150	0.04932	N	0.457010	T	0.08313	0.0207	L	0.51422	1.61	0.09310	N	1	B;P;B	0.38767	0.403;0.646;0.281	B;B;B	0.30782	0.12;0.108;0.056	T	0.40194	-0.9576	10	0.15499	T	0.54	-4.0331	14.9299	0.70906	0.0:1.0:0.0:0.0	.	380;400;409	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	D	409;390;400	ENSP00000356198:E409D;ENSP00000255427:E390D;ENSP00000438078:E400D	ENSP00000255427:E390D	E	-	3	2	CHIT1	201452814	0.591000	0.26824	0.022000	0.16811	0.934000	0.57294	2.488000	0.45276	2.300000	0.77407	0.650000	0.86243	GAG	CHIT1	-	NULL	ENSG00000133063		0.567	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	HGNC	protein_coding	OTTHUMT00000100275.2	156	0.00	0	C	NM_003465		203186191	203186191	-1	no_errors	ENST00000367229	ensembl	human	known	69_37n	missense	71	33.02	35	SNP	0.057	A
CHKB	1120	genome.wustl.edu	37	22	51018822	51018822	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:51018822G>A	ENST00000406938.2	-	6	918	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000360719.2_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB_ENST00000463053.1_5'UTR|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	234					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GACGACTGGCGATGGGGTAGA	0.562																																						dbGAP											0													179.0	181.0	180.0					22																	51018822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.701C>T	22.37:g.51018822G>A	ENSP00000384400:p.Ser234Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.S234L	ENST00000406938.2	37	c.701	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421863	0.83559	.	.	ENSG00000100288	ENST00000406938	T	0.57436	0.4	5.41	5.41	0.78517	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73369	-0.4004	10	0.42905	T	0.14	-19.616	16.6779	0.85284	0.0:0.0:1.0:0.0	.	234	Q9Y259	CHKB_HUMAN	L	234	ENSP00000384400:S234L	ENSP00000384400:S234L	S	-	2	0	CHKB	49365688	1.000000	0.71417	0.881000	0.34555	0.586000	0.36452	9.461000	0.97646	2.541000	0.85698	0.561000	0.74099	TCG	CHKB	-	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	ENSG00000100288		0.562	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	75	0.00	0	G	NM_005198		51018822	51018822	-1	no_errors	ENST00000406938	ensembl	human	known	69_37n	missense	69	16.67	14	SNP	0.995	A
CHM	1121	genome.wustl.edu	37	X	85149241	85149241	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:85149241G>A	ENST00000357749.2	-	12	1491	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.R340W	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	488					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.R488W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCAATGACCCGAACAGCAAAA	0.378																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											148.0	122.0	131.0					X																	85149241		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1462C>T	X.37:g.85149241G>A	ENSP00000350386:p.Arg488Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.R488W	ENST00000357749.2	37	c.1462	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249888	0.22880	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.85411	-1.98;-1.98	5.11	4.25	0.50352	.	0.422409	0.26808	N	0.022393	D	0.91243	0.7240	M	0.87180	2.865	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.83027	-0.0164	10	0.46703	T	0.11	-0.5221	5.9672	0.19332	0.3663:0.0:0.6337:0.0	.	488	P24386	RAE1_HUMAN	W	488;340	ENSP00000350386:R488W;ENSP00000441728:R340W	ENSP00000350386:R488W	R	-	1	2	CHM	85035897	0.999000	0.42202	0.014000	0.15608	0.005000	0.04900	1.846000	0.39289	0.942000	0.37525	0.600000	0.82982	CGG	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk	ENSG00000188419		0.378	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	563	0.00	0	G	NM_000390		85149241	85149241	-1	no_errors	ENST00000357749	ensembl	human	known	69_37n	missense	356	25.05	119	SNP	0.007	A
CHML	1122	genome.wustl.edu	37	1	241798009	241798009	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:241798009T>G	ENST00000366553.1	-	1	1223	c.1060A>C	c.(1060-1062)Ata>Cta	p.I354L	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	354					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGACCATCTATTGTAGTGCAA	0.383																																						dbGAP											0													128.0	127.0	127.0					1																	241798009		2203	4299	6502	-	-	-	SO:0001583	missense	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1060A>C	1.37:g.241798009T>G	ENSP00000355511:p.Ile354Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.I354L	ENST00000366553.1	37	c.1060	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	T	0.398	-0.919854	0.02396	.	.	ENSG00000203668	ENST00000366553	T	0.56941	0.43	4.96	-9.93	0.00452	.	0.634908	0.16025	N	0.233158	T	0.25606	0.0623	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.07347	-1.0777	9	0.21014	T	0.42	-0.3363	8.1377	0.31064	0.5541:0.3255:0.0:0.1204	.	354	P26374	RAE2_HUMAN	L	354	ENSP00000355511:I354L	ENSP00000355511:I354L	I	-	1	0	CHML	239864632	0.023000	0.18921	0.004000	0.12327	0.828000	0.46876	0.032000	0.13732	-2.008000	0.00955	-0.290000	0.09829	ATA	CHML	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000203668		0.383	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1	206	0.00	0	T	NM_001821		241798009	241798009	-1	no_errors	ENST00000366553	ensembl	human	known	69_37n	missense	145	22.87	43	SNP	0.001	G
CHMP2A	27243	genome.wustl.edu	37	19	59063683	59063683	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:59063683G>A	ENST00000600118.1	-	2	716	c.291C>T	c.(289-291)aaC>aaT	p.N97N	CHMP2A_ENST00000312547.2_Silent_p.N97N|CHMP2A_ENST00000601220.1_Silent_p.N97N			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	97	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTGCCATCGAGTTGTTGGACT	0.567																																						dbGAP											0													202.0	158.0	173.0					19																	59063683		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.291C>T	19.37:g.59063683G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4W6|Q3ZTT0	Silent	SNP	pfam_Snf7	p.N97	ENST00000600118.1	37	c.291	CCDS12986.1	19																																																																																			CHMP2A	-	pfam_Snf7	ENSG00000130724		0.567	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHMP2A	HGNC	protein_coding	OTTHUMT00000467088.1	58	0.00	0	G	NM_014453		59063683	59063683	-1	no_errors	ENST00000312547	ensembl	human	known	69_37n	silent	50	20.00	13	SNP	1.000	A
CHN1	1123	genome.wustl.edu	37	2	175664997	175664997	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:175664997C>A	ENST00000409900.3	-	13	1540	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	CHN1_ENST00000295497.7_Missense_Mutation_p.K284N|CHN1_ENST00000409156.3_Missense_Mutation_p.K383N|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.K225N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	409	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TAAGATTCTCCTTTTCGTGGA	0.408			T	TAF15	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													119.0	111.0	113.0					2																	175664997		1894	4120	6014	-	-	-	SO:0001583	missense	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1227G>T	2.37:g.175664997C>A	ENSP00000386741:p.Lys409Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.K409N	ENST00000409900.3	37	c.1227	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167888	0.57476	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.88	3.17	0.36434	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	L	0.41079	1.255	0.80722	D	1	B;P;B	0.34562	0.331;0.457;0.28	B;B;B	0.34242	0.086;0.176;0.178	T	0.18524	-1.0334	10	0.33940	T	0.23	.	10.7846	0.46398	0.0:0.796:0.0:0.204	.	383;409;284	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	N	409;284;225;383	ENSP00000386741:K409N;ENSP00000295497:K284N;ENSP00000386469:K225N;ENSP00000386470:K383N	ENSP00000295497:K284N	K	-	3	2	CHN1	175373243	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	1.611000	0.36879	0.410000	0.25675	-0.126000	0.14955	AAG	CHN1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom	ENSG00000128656		0.408	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	154	0.00	0	C	NM_001822		175664997	175664997	-1	no_errors	ENST00000409900	ensembl	human	known	69_37n	missense	133	15.29	24	SNP	1.000	A
CHP2	63928	genome.wustl.edu	37	16	23768569	23768569	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:23768569G>T	ENST00000300113.2	+	6	885	c.462G>T	c.(460-462)gaG>gaT	p.E154D		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	154	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AGCAGCTGGAGAACATCGCTG	0.582																																						dbGAP											0													108.0	93.0	98.0					16																	23768569		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.462G>T	16.37:g.23768569G>T	ENSP00000300113:p.Glu154Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2I8	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E154D	ENST00000300113.2	37	c.462	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452890	0.26161	.	.	ENSG00000166869	ENST00000300113	T	0.28895	1.59	5.21	-1.39	0.08997	EF-hand-like domain (1);	0.376195	0.24737	N	0.036001	T	0.16171	0.0389	L	0.38953	1.18	0.40401	D	0.979643	B	0.06786	0.001	B	0.04013	0.001	T	0.08617	-1.0713	10	0.36615	T	0.2	-43.082	1.0411	0.01559	0.3137:0.2629:0.2883:0.135	.	154	O43745	CHP2_HUMAN	D	154	ENSP00000300113:E154D	ENSP00000300113:E154D	E	+	3	2	AC130454.2	23676070	0.952000	0.32445	0.986000	0.45419	0.975000	0.68041	-0.062000	0.11674	-0.058000	0.13177	0.655000	0.94253	GAG	CHP2	-	pfscan_EF_HAND_2	ENSG00000166869		0.582	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	309	0.00	0	G	NM_022097		23768569	23768569	+1	no_errors	ENST00000300113	ensembl	human	known	69_37n	missense	199	14.96	35	SNP	0.954	T
CHPF	79586	genome.wustl.edu	37	2	220405716	220405716	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220405716G>A	ENST00000243776.6	-	3	1268	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	CHPF_ENST00000535926.1_Silent_p.F178F|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	340					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCTCGGGCGAAAGCTTTGT	0.597																																						dbGAP											0													96.0	78.0	84.0					2																	220405716		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1020C>T	2.37:g.220405716G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	pfam_Chond_GalNAc	p.F340	ENST00000243776.6	37	c.1020	CCDS2443.1	2																																																																																			CHPF	-	pfam_Chond_GalNAc	ENSG00000123989		0.597	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1	208	0.00	0	G	NM_024536		220405716	220405716	-1	no_errors	ENST00000243776	ensembl	human	known	69_37n	silent	93	13.89	15	SNP	1.000	A
CHRDL2	25884	genome.wustl.edu	37	11	74412541	74412541	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:74412541C>T	ENST00000376332.3	-	9	1617				CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Intron	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2						cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					ccactttcttcgtccattcct	0.592																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.1120+1297G>A	11.37:g.74412541C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	RNA	SNP	-	NULL	ENST00000376332.3	37	NULL		11																																																																																			CHRDL2	-	-	ENSG00000054938		0.592	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	HGNC	protein_coding	OTTHUMT00000385391.1	209	0.00	0	C			74412541	74412541	-1	no_errors	ENST00000534159	ensembl	human	known	69_37n	rna	168	11.52	22	SNP	0.993	T
CHRM3	1131	genome.wustl.edu	37	1	240070851	240070851	+	Missense_Mutation	SNP	G	G	A	rs201042655		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:240070851G>A	ENST00000255380.4	+	5	879	c.100G>A	c.(100-102)Gtc>Atc	p.V34I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	34					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)	CCCGGGAACCGTCACTCATTT	0.547																																						dbGAP											0													75.0	75.0	75.0					1																	240070851		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.100G>A	1.37:g.240070851G>A	ENSP00000255380:p.Val34Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.V34I	ENST00000255380.4	37	c.100	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	G	2.578	-0.297987	0.05532	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.59083	0.29;1.48	5.17	2.0	0.26442	.	0.911131	0.09212	N	0.833105	T	0.33411	0.0862	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18999	-1.0319	10	0.33940	T	0.23	-16.9872	5.2858	0.15700	0.0757:0.2621:0.5275:0.1346	.	34	P20309	ACM3_HUMAN	I	34	ENSP00000255380:V34I;ENSP00000404764:V34I	ENSP00000255380:V34I	V	+	1	0	CHRM3	238137474	0.000000	0.05858	0.060000	0.19600	0.180000	0.23129	0.260000	0.18424	0.806000	0.34183	0.650000	0.86243	GTC	CHRM3	-	NULL	ENSG00000133019		0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	84	0.00	0	G	NM_000740		240070851	240070851	+1	no_errors	ENST00000255380	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	0.000	A
CHRNA7	1139	genome.wustl.edu	37	15	32450797	32450797	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:32450797G>T	ENST00000306901.3	+	7	880	c.783G>T	c.(781-783)aaG>aaT	p.K261N	CHRNA7_ENST00000455693.2_Missense_Mutation_p.K80N|CHRNA7_ENST00000454250.3_Missense_Mutation_p.K290N	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	261					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCGGGGAGAAGATTTCCCTGG	0.607																																					Esophageal Squamous(193;529 2900 40232 43193)	dbGAP											0													33.0	30.0	31.0					15																	32450797		2198	4274	6472	-	-	-	SO:0001583	missense	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.783G>T	15.37:g.32450797G>T	ENSP00000303727:p.Lys261Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K290N	ENST00000306901.3	37	c.870	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	g	15.33	2.800153	0.50208	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693;ENST00000454016	D;D;D	0.90385	-2.66;-2.66;-2.66	4.76	-7.24	0.01475	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.96318	0.8799	H	0.98487	4.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95413	0.8500	10	0.87932	D	0	.	15.535	0.75996	0.7724:0.0:0.2276:0.0	.	290;157;261	B4DFS0;B1N7G6;P36544	.;.;ACHA7_HUMAN	N	171;290;261;80;185	ENSP00000407546:K290N;ENSP00000303727:K261N;ENSP00000405989:K80N	ENSP00000303727:K261N	K	+	3	2	CHRNA7	30238089	0.874000	0.30092	0.750000	0.31169	0.375000	0.29983	-0.059000	0.11731	-1.472000	0.01883	-0.237000	0.12165	AAG	CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.607	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	122	0.00	0	G			32450797	32450797	+1	no_errors	ENST00000454250	ensembl	human	known	69_37n	missense	82	31.09	37	SNP	0.975	T
CHRNA5	1138	genome.wustl.edu	37	15	78880682	78880682	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:78880682G>T	ENST00000299565.5	+	4	530	c.330G>T	c.(328-330)tgG>tgT	p.W110C	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Missense_Mutation_p.W110C	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	110					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AATTAAGATGGAACCCTGATG	0.313																																						dbGAP											0													93.0	95.0	94.0					15																	78880682		2196	4293	6489	-	-	-	SO:0001583	missense	0				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.330G>T	15.37:g.78880682G>T	ENSP00000299565:p.Trp110Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15824|Q99554	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.E49*	ENST00000299565.5	37	c.145	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335135	0.81801	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.85702	-2.02	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.110140	0.64402	D	0.000002	D	0.95987	0.8693	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97892	1.0298	10	0.87932	D	0	.	18.9117	0.92489	0.0:0.0:1.0:0.0	.	110	P30532	ACHA5_HUMAN	C	110;61	ENSP00000299565:W110C	ENSP00000299565:W110C	W	+	3	0	CHRNA5	76667737	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.522000	0.85027	0.555000	0.69702	TGG	CHRNA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel	ENSG00000169684		0.313	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	374	0.00	0	G			78880682	78880682	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000394802	ensembl	human	putative	69_37n	nonsense	338	23.87	106	SNP	1.000	T
CHRNB2	1141	genome.wustl.edu	37	1	154548273	154548273	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154548273C>T	ENST00000368476.3	+	6	1638	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	458					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CCATGGTGATCGACCGCCTCT	0.547																																						dbGAP											0													312.0	223.0	253.0					1																	154548273		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.1374C>T	1.37:g.154548273C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I458	ENST00000368476.3	37	c.1374	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000160716		0.547	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	221	0.00	0	C	NM_000748		154548273	154548273	+1	no_errors	ENST00000368476	ensembl	human	known	69_37n	silent	122	32.22	58	SNP	0.995	T
CHRNB4	1143	genome.wustl.edu	37	15	78922160	78922160	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:78922160C>T	ENST00000261751.3	-	5	598	c.487G>A	c.(487-489)Gac>Aac	p.D163N	CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	163					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TTCTGCTGGTCGAAGGGAAAG	0.557																																						dbGAP											0													76.0	68.0	71.0					15																	78922160		2196	4293	6489	-	-	-	SO:0001583	missense	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.487G>A	15.37:g.78922160C>T	ENSP00000261751:p.Asp163Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D163N	ENST00000261751.3	37	c.487	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.157996	0.94686	.	.	ENSG00000117971	ENST00000261751	D	0.91894	-2.93	4.87	4.87	0.63330	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99556	1.0967	10	0.87932	D	0	.	17.9813	0.89141	0.0:1.0:0.0:0.0	.	163	P30926	ACHB4_HUMAN	N	163	ENSP00000261751:D163N	ENSP00000261751:D163N	D	-	1	0	CHRNB4	76709215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.766000	0.85320	2.242000	0.73789	0.655000	0.94253	GAC	CHRNB4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000117971		0.557	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	231	0.00	0	C			78922160	78922160	-1	no_errors	ENST00000261751	ensembl	human	known	69_37n	missense	148	32.73	72	SNP	1.000	T
CHUK	1147	genome.wustl.edu	37	10	101960453	101960453	+	Missense_Mutation	SNP	G	G	A	rs184250593		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:101960453G>A	ENST00000370397.7	-	15	1740	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	552					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCTCCCTGACGTCTTCCATAG	0.398													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18289	0.0		0.0	False		,,,				2504	0.0				Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0													131.0	125.0	127.0					10																	101960453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1654C>T	10.37:g.101960453G>A	ENSP00000359424:p.Arg552Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R552C	ENST00000370397.7	37	c.1654	CCDS7488.1	10	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.60	3.429446	0.62844	.	.	ENSG00000213341	ENST00000370397	T	0.25414	1.8	5.85	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.64410	0.925	T	0.40627	-0.9553	10	0.87932	D	0	-12.8253	7.6758	0.28484	0.082:0.0:0.7555:0.1625	.	552	O15111	IKKA_HUMAN	C	552	ENSP00000359424:R552C	ENSP00000359424:R552C	R	-	1	0	CHUK	101950443	1.000000	0.71417	0.968000	0.41197	0.648000	0.38561	5.479000	0.66813	1.484000	0.48361	0.655000	0.94253	CGT	CHUK	-	NULL	ENSG00000213341		0.398	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	184	0.00	0	G	NM_001278		101960453	101960453	-1	no_errors	ENST00000370397	ensembl	human	known	69_37n	missense	133	16.35	26	SNP	0.963	A
CHUK	1147	genome.wustl.edu	37	10	101961901	101961901	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:101961901C>T	ENST00000370397.7	-	14	1599	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	505					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGCATTTTTTCTGAAGCTAAA	0.348																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0													157.0	142.0	147.0					10																	101961901		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1513G>A	10.37:g.101961901C>T	ENSP00000359424:p.Glu505Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E505K	ENST00000370397.7	37	c.1513	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.365114	0.95877	.	.	ENSG00000213341	ENST00000370397	T	0.20069	2.1	5.98	5.98	0.97165	.	0.047899	0.85682	N	0.000000	T	0.47192	0.1432	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.18777	-1.0326	10	0.44086	T	0.13	-17.1447	17.952	0.89056	0.0:1.0:0.0:0.0	.	505	O15111	IKKA_HUMAN	K	505	ENSP00000359424:E505K	ENSP00000359424:E505K	E	-	1	0	CHUK	101951891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.896000	0.75665	2.835000	0.97688	0.650000	0.86243	GAA	CHUK	-	NULL	ENSG00000213341		0.348	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	291	0.00	0	C	NM_001278		101961901	101961901	-1	no_errors	ENST00000370397	ensembl	human	known	69_37n	missense	256	12.93	38	SNP	1.000	T
CHUK	1147	genome.wustl.edu	37	10	101978515	101978515	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:101978515G>A	ENST00000370397.7	-	8	843	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTACTAAACCGAACTTCTCCT	0.378																																					Ovarian(159;52 1904 10536 35305 37148)	dbGAP											0													142.0	134.0	137.0					10																	101978515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.757C>T	10.37:g.101978515G>A	ENSP00000359424:p.Arg253Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R253W	ENST00000370397.7	37	c.757	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737533	0.69304	.	.	ENSG00000213341	ENST00000370397	T	0.66995	-0.24	5.75	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116944	0.52532	D	0.000078	T	0.80154	0.4571	M	0.77313	2.365	0.58432	D	0.999997	D	0.89917	1.0	D	0.74348	0.983	T	0.81724	-0.0802	10	0.72032	D	0.01	-7.9386	12.0174	0.53321	0.0:0.0:0.704:0.296	.	253	O15111	IKKA_HUMAN	W	253	ENSP00000359424:R253W	ENSP00000359424:R253W	R	-	1	2	CHUK	101968505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.526000	0.35964	2.725000	0.93324	0.655000	0.94253	CGG	CHUK	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000213341		0.378	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	329	0.00	0	G	NM_001278		101978515	101978515	-1	no_errors	ENST00000370397	ensembl	human	known	69_37n	missense	276	10.97	34	SNP	1.000	A
CIAPIN1	57019	genome.wustl.edu	37	16	57473235	57473235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:57473235C>A	ENST00000569979.1	-	2	215	c.169G>T	c.(169-171)Gaa>Taa	p.E57*	CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000394391.4_Nonsense_Mutation_p.E57*|CIAPIN1_ENST00000565961.1_Nonsense_Mutation_p.E57*|CIAPIN1_ENST00000568940.1_Nonsense_Mutation_p.E57*|CIAPIN1_ENST00000569370.1_Nonsense_Mutation_p.E57*|CIAPIN1_ENST00000567518.1_Intron					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAGCTGGATTCTTTGTGGGCA	0.498																																						dbGAP											0													113.0	112.0	113.0					16																	57473235		1887	4109	5996	-	-	-	SO:0001587	stop_gained	0			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.169G>T	16.37:g.57473235C>A	ENSP00000458000:p.Glu57*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_CIAPIN1	p.E57*	ENST00000569979.1	37	c.169		16	.	.	.	.	.	.	.	.	.	.	C	37	6.529321	0.97641	.	.	ENSG00000005194	ENST00000394391	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-8.3707	18.1984	0.89830	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000377914:E57X	E	-	1	0	CIAPIN1	56030736	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.017000	0.64047	2.546000	0.85860	0.563000	0.77884	GAA	CIAPIN1	-	NULL	ENSG00000005194		0.498	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	CIAPIN1	HGNC	protein_coding	OTTHUMT00000432580.1	103	0.00	0	C	NM_020313		57473235	57473235	-1	no_errors	ENST00000394391	ensembl	human	known	69_37n	nonsense	90	13.46	14	SNP	1.000	A
CILP	8483	genome.wustl.edu	37	15	65495780	65495780	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:65495780C>A	ENST00000261883.4	-	7	1114	c.948G>T	c.(946-948)gaG>gaT	p.E316D		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	316	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGCTTTTGTCTCAGGGTTCA	0.493																																						dbGAP											0													101.0	90.0	94.0					15																	65495780		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.948G>T	15.37:g.65495780C>A	ENSP00000261883:p.Glu316Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E316D	ENST00000261883.4	37	c.948	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793855	0.50102	.	.	ENSG00000138615	ENST00000261883	T	0.44083	0.93	5.24	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.300723	0.40640	N	0.001057	T	0.42131	0.1189	M	0.66297	2.02	0.46981	D	0.99927	B	0.09022	0.002	B	0.11329	0.006	T	0.33879	-0.9851	10	0.46703	T	0.11	-27.3633	12.3293	0.55031	0.0:0.9174:0.0:0.0826	.	316	O75339	CILP1_HUMAN	D	316	ENSP00000261883:E316D	ENSP00000261883:E316D	E	-	3	2	CILP	63282833	0.997000	0.39634	0.187000	0.23214	0.980000	0.70556	1.272000	0.33109	1.207000	0.43291	0.561000	0.74099	GAG	CILP	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000138615		0.493	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	133	0.00	0	C	NM_003613		65495780	65495780	-1	no_errors	ENST00000261883	ensembl	human	known	69_37n	missense	86	21.10	23	SNP	0.996	A
CIRH1A	84916	genome.wustl.edu	37	16	69197071	69197071	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:69197071C>T	ENST00000314423.7	+	14	1814	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	CIRH1A_ENST00000563094.1_Missense_Mutation_p.S546L|CIRH1A_ENST00000352319.4_Missense_Mutation_p.S431L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	546					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATCGCTCATTCGGACCAGCAG	0.483																																					Melanoma(69;1156 1278 4951 8715 52012)	dbGAP											0													200.0	172.0	181.0					16																	69197071		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1637C>T	16.37:g.69197071C>T	ENSP00000327179:p.Ser546Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S546L	ENST00000314423.7	37	c.1637	CCDS10872.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124851	0.77436	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30448	1.53;2.25	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.179548	0.47852	D	0.000217	T	0.28797	0.0714	M	0.61703	1.905	0.46701	D	0.999166	P;P	0.51791	0.84;0.948	B;B	0.37601	0.089;0.254	T	0.19844	-1.0293	10	0.10111	T	0.7	.	17.9357	0.89011	0.0:1.0:0.0:0.0	.	546;546	Q969X6;Q969X6-3	CIR1A_HUMAN;.	L	546;431	ENSP00000327179:S546L;ENSP00000339164:S431L	ENSP00000327179:S546L	S	+	2	0	CIRH1A	67754572	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.731000	0.74785	2.517000	0.84864	0.563000	0.77884	TCG	CIRH1A	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat	ENSG00000141076		0.483	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	182	0.55	1	C	NM_032830		69197071	69197071	+1	no_errors	ENST00000314423	ensembl	human	known	69_37n	missense	89	14.29	15	SNP	1.000	T
CIT	11113	genome.wustl.edu	37	12	120214541	120214541	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:120214541C>T	ENST00000261833.7	-	14	1823	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E591K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	591					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGCCGAGACTCTCTCAGCTCA	0.488																																						dbGAP											0													122.0	117.0	119.0					12																	120214541		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1771G>A	12.37:g.120214541C>T	ENSP00000261833:p.Glu591Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E591K	ENST00000261833.7	37	c.1771	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775417	0.70107	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65732	-0.17;-0.08	5.48	5.48	0.80851	.	0.124856	0.52532	D	0.000061	T	0.51227	0.1662	N	0.19112	0.55	0.58432	D	0.999993	B;B;B	0.16603	0.018;0.011;0.002	B;B;B	0.17722	0.019;0.005;0.007	T	0.41893	-0.9483	10	0.38643	T	0.18	.	19.3515	0.94389	0.0:1.0:0.0:0.0	.	591;591;124	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	K	591	ENSP00000376306:E591K;ENSP00000261833:E591K	ENSP00000261833:E591K	E	-	1	0	CIT	118698924	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.593000	0.87608	0.561000	0.74099	GAG	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.488	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	218	0.00	0	C	NM_007174		120214541	120214541	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	99	24.81	33	SNP	1.000	T
CIZ1	25792	genome.wustl.edu	37	9	130928673	130928673	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:130928673C>A	ENST00000393608.1	-	17	2702	c.2500G>T	c.(2500-2502)Gcc>Tcc	p.A834S	CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000538431.1_Missense_Mutation_p.A860S|CIZ1_ENST00000372938.5_Missense_Mutation_p.A834S|CIZ1_ENST00000357558.5_Missense_Mutation_p.A806S|CIZ1_ENST00000372948.3_Missense_Mutation_p.A778S|CIZ1_ENST00000372954.1_Missense_Mutation_p.A754S|CIZ1_ENST00000541172.1_Missense_Mutation_p.A733S|CIZ1_ENST00000325721.8_Missense_Mutation_p.A805S|CIZ1_ENST00000277465.4_Missense_Mutation_p.A806S	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	834					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGGTTCTTGGCCGCCTTGTAT	0.627																																						dbGAP											0													52.0	56.0	55.0					9																	130928673		2160	4229	6389	-	-	-	SO:0001583	missense	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2500G>T	9.37:g.130928673C>A	ENSP00000377232:p.Ala834Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.A860S	ENST00000393608.1	37	c.2578	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123961	0.56613	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.08	1.23	0.21249	.	0.249901	0.28865	N	0.013895	T	0.66934	0.2840	L	0.29908	0.895	0.33858	D	0.633422	D;D;D;P;D;D;P	0.58970	0.962;0.969;0.982;0.829;0.984;0.977;0.947	P;P;P;P;P;P;B	0.54270	0.633;0.563;0.747;0.523;0.704;0.721;0.404	T	0.68595	-0.5367	10	0.30078	T	0.28	-14.6663	6.1974	0.20557	0.0:0.6781:0.0:0.3219	.	860;773;778;754;834;805;806	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	S	754;834;860;806;805;773;733;806;778;834;756	ENSP00000362045:A754S;ENSP00000377232:A834S;ENSP00000439244:A860S;ENSP00000350169:A806S;ENSP00000320374:A805S;ENSP00000445057:A733S;ENSP00000277465:A806S;ENSP00000362039:A778S;ENSP00000362029:A834S;ENSP00000398011:A756S	ENSP00000277465:A806S	A	-	1	0	CIZ1	129968494	0.991000	0.36638	0.996000	0.52242	0.867000	0.49689	1.166000	0.31834	0.288000	0.22398	-0.291000	0.09656	GCC	CIZ1	-	NULL	ENSG00000148337		0.627	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	214	0.00	0	C	NM_012127		130928673	130928673	-1	no_errors	ENST00000538431	ensembl	human	known	69_37n	missense	114	14.29	19	SNP	0.995	A
CKAP5	9793	genome.wustl.edu	37	11	46819690	46819690	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:46819690C>A	ENST00000529230.1	-	10	1162	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	CKAP5_ENST00000532321.1_5'UTR|CKAP5_ENST00000312055.5_Missense_Mutation_p.E372D|CKAP5_ENST00000415402.1_Missense_Mutation_p.E372D|CKAP5_ENST00000354558.3_Missense_Mutation_p.E372D			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	372					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GAGGTTTCTTCTCTTTGAATT	0.378																																					Ovarian(4;85 273 2202 4844 13323)	dbGAP											0													139.0	141.0	140.0					11																	46819690		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1116G>T	11.37:g.46819690C>A	ENSP00000432768:p.Glu372Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E372D	ENST00000529230.1	37	c.1116	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142326	0.77775	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.86	2.15	0.27550	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.73217	2.22	0.51482	D	0.999929	D;D;D	0.69078	0.981;0.981;0.997	D;D;D	0.72625	0.969;0.969;0.978	T	0.63391	-0.6648	10	0.20519	T	0.43	-19.9328	9.9681	0.41736	0.0:0.7295:0.0:0.2705	.	372;372;372	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	D	372	ENSP00000432768:E372D;ENSP00000395302:E372D;ENSP00000310227:E372D;ENSP00000346566:E372D	ENSP00000310227:E372D	E	-	3	2	CKAP5	46776266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.358000	0.34102	0.129000	0.18514	0.655000	0.94253	GAG	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000175216		0.378	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	332	0.00	0	C	NM_014756		46819690	46819690	-1	no_errors	ENST00000415402	ensembl	human	known	69_37n	missense	210	27.84	81	SNP	1.000	A
CKMT1B	1159	genome.wustl.edu	37	15	43891360	43891360	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43891360G>A	ENST00000441322.1	+	9	1503	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	CKMT1B_ENST00000300283.6_Silent_p.E381E			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	381	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTTAGGTGGAGCTGGTGCAAC	0.483																																						dbGAP											0													245.0	211.0	223.0					15																	43891360		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1143G>A	15.37:g.43891360G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Silent	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.E381	ENST00000441322.1	37	c.1143	CCDS10097.1	15																																																																																			CKMT1B	-	pfam_ATP-guanido_PTrfase_cat	ENSG00000237289		0.483	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKMT1B	HGNC	protein_coding	OTTHUMT00000133147.2	332	0.00	0	G	NM_020990		43891360	43891360	+1	no_errors	ENST00000300283	ensembl	human	known	69_37n	silent	280	30.00	120	SNP	1.000	A
CLASP1	23332	genome.wustl.edu	37	2	122204965	122204965	+	Silent	SNP	C	C	T	rs537126640		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:122204965C>T	ENST00000263710.4	-	19	2249	c.1860G>A	c.(1858-1860)acG>acA	p.T620T	CLASP1_ENST00000541859.1_Silent_p.T389T|CLASP1_ENST00000397587.3_Silent_p.T620T|CLASP1_ENST00000541377.1_Silent_p.T620T|CLASP1_ENST00000545861.1_Silent_p.T388T|CLASP1_ENST00000455322.2_Silent_p.T620T|CLASP1_ENST00000409078.3_Silent_p.T620T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	620	Ser-rich.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGAAAGGCGTCGTGCCCGAAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19936	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1860G>A	2.37:g.122204965C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.R401Q	ENST00000263710.4	37	c.1202		2																																																																																			CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.547	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		246	0.00	0	C	NM_015282		122204965	122204965	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452274	ensembl	human	known	69_37n	missense	178	11.39	23	SNP	0.000	T
CLASP2	23122	genome.wustl.edu	37	3	33633913	33633913	+	Missense_Mutation	SNP	C	C	T	rs554149266	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:33633913C>T	ENST00000468888.2	-	21	2091	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q	CLASP2_ENST00000461133.3_Missense_Mutation_p.R448Q|CLASP2_ENST00000399362.4_Missense_Mutation_p.R681Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.R681Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.R448Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.R170Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.R433Q			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	448					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CATTTTTGTTCGACTTCTTCC	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		16154	0.0		0.001	False		,,,				2504	0.002					dbGAP											0													129.0	129.0	129.0					3																	33633913		1899	4113	6012	-	-	-	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2045G>A	3.37:g.33633913C>T	ENSP00000419974:p.Arg682Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R681Q	ENST00000468888.2	37	c.2042		3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351477	0.82132	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T	0.21932	1.98;1.99;1.99	5.68	5.68	0.88126	Armadillo-type fold (1);	0.131967	0.51477	D	0.000098	T	0.45716	0.1356	M	0.78049	2.395	0.52501	D	0.999951	P;D	0.69078	0.904;0.997	B;D	0.69479	0.23;0.964	T	0.28586	-1.0039	10	0.13470	T	0.59	-2.2711	18.0122	0.89227	0.0:1.0:0.0:0.0	.	448;681	O75122;F5H604	CLAP2_HUMAN;.	Q	682;681;681;170;433;448;448	ENSP00000419974:R682Q;ENSP00000382297:R681Q;ENSP00000352581:R681Q	ENSP00000304743:R170Q	R	-	2	0	CLASP2	33608917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.101000	0.71479	2.690000	0.91761	0.579000	0.79373	CGA	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.393	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	664	0.00	0	C	NM_001207044		33633913	33633913	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	missense	346	13.93	56	SNP	1.000	T
CLASP2	23122	genome.wustl.edu	37	3	33705003	33705003	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:33705003C>A	ENST00000468888.2	-	7	695	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	CLASP2_ENST00000399362.4_Nonsense_Mutation_p.E217*|CLASP2_ENST00000359576.5_Nonsense_Mutation_p.E217*|CLASP2_ENST00000307312.7_5'UTR			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1270					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AATATCATTTCTAATCTGGGA	0.294																																						dbGAP											0													66.0	63.0	64.0					3																	33705003		1792	4054	5846	-	-	-	SO:0001587	stop_gained	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.649G>T	3.37:g.33705003C>A	ENSP00000419974:p.Glu217*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Nonsense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E217*	ENST00000468888.2	37	c.649		3	.	.	.	.	.	.	.	.	.	.	C	39	7.792750	0.98492	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576	.	.	.	5.68	3.69	0.42338	.	0.116676	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2261	6.5627	0.22495	0.0:0.6112:0.2792:0.1096	.	.	.	.	X	217	.	ENSP00000352581:E217X	E	-	1	0	CLASP2	33680007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.011000	0.40922	1.474000	0.48178	0.650000	0.86243	GAA	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.294	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	269	0.00	0	C	NM_001207044		33705003	33705003	-1	no_errors	ENST00000399362	ensembl	human	known	69_37n	nonsense	255	15.28	46	SNP	1.000	A
CLCN1	1180	genome.wustl.edu	37	7	143018550	143018550	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:143018550G>A	ENST00000343257.2	+	4	613	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	176					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCTCTTCAGCGCCCTCTTCTG	0.622																																						dbGAP											0													314.0	234.0	261.0					7																	143018550		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.526G>A	7.37:g.143018550G>A	ENSP00000339867:p.Ala176Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.A176T	ENST00000343257.2	37	c.526	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	.	18.01	3.527133	0.64860	.	.	ENSG00000188037	ENST00000343257	D	0.94537	-3.45	5.11	4.23	0.50019	Chloride channel, core (2);	0.115207	0.64402	N	0.000010	D	0.90380	0.6989	L	0.43923	1.385	0.49389	D	0.999789	D	0.55800	0.973	B	0.38264	0.269	D	0.89790	0.3967	10	0.56958	D	0.05	.	13.2522	0.60057	0.0763:0.0:0.9237:0.0	.	176	P35523	CLCN1_HUMAN	T	176	ENSP00000339867:A176T	ENSP00000339867:A176T	A	+	1	0	CLCN1	142728672	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	5.896000	0.69822	1.168000	0.42723	0.555000	0.69702	GCC	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000188037		0.622	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	774	0.13	1	G	NM_000083		143018550	143018550	+1	no_errors	ENST00000343257	ensembl	human	known	69_37n	missense	609	21.37	168	SNP	0.998	A
CLCN1	1180	genome.wustl.edu	37	7	143043345	143043345	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:143043345G>A	ENST00000343257.2	+	18	2371		c.e18+1			NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GAGCCTGCAGGTGACGCTCTT	0.607																																						dbGAP											0													51.0	49.0	50.0					7																	143043345		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2284+1G>A	7.37:g.143043345G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2H5|Q2M202	Splice_Site	SNP	-	e18+1	ENST00000343257.2	37	c.2284+1	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156851	0.38119	.	.	ENSG00000188037	ENST00000343257	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3609	0.55203	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN1	142753467	1.000000	0.71417	0.997000	0.53966	0.305000	0.27757	4.946000	0.63576	1.979000	0.57680	0.561000	0.74099	.	CLCN1	-	-	ENSG00000188037		0.607	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1	117	0.00	0	G	NM_000083	Intron	143043345	143043345	+1	no_errors	ENST00000343257	ensembl	human	known	69_37n	splice_site	69	34.91	37	SNP	1.000	A
CLEC16A	23274	genome.wustl.edu	37	16	11137913	11137913	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:11137913T>C	ENST00000409790.1	+	16	2029	c.1799T>C	c.(1798-1800)gTa>gCa	p.V600A	CLEC16A_ENST00000409552.3_Missense_Mutation_p.V582A|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTTCACCTTGTACGACATTTT	0.443																																						dbGAP											1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											105.0	100.0	102.0					16																	11137913		1997	4185	6182	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1799T>C	16.37:g.11137913T>C	ENSP00000387122:p.Val600Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.V600A	ENST00000409790.1	37	c.1799	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	T	15.53	2.859413	0.51376	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.44482	0.92	5.52	4.44	0.53790	.	0.286046	0.34291	N	0.004093	T	0.24314	0.0589	N	0.14661	0.345	0.80722	D	1	B;B	0.30605	0.104;0.287	B;B	0.24541	0.03;0.054	T	0.06917	-1.0800	10	0.59425	D	0.04	-8.0148	9.56	0.39362	0.0:0.0828:0.0:0.9172	.	600;582	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	A	600;600;582	ENSP00000387122:V600A	ENSP00000386495:V582A	V	+	2	0	CLEC16A	11045414	0.995000	0.38212	0.074000	0.20217	0.991000	0.79684	5.041000	0.64196	0.944000	0.37579	0.528000	0.53228	GTA	CLEC16A	-	NULL	ENSG00000038532		0.443	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	144	0.00	0	T	NM_015226		11137913	11137913	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	missense	82	18.00	18	SNP	0.593	C
CLEC4C	170482	genome.wustl.edu	37	12	7882207	7882207	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:7882207C>A	ENST00000542353.1	-	7	1117	c.627G>T	c.(625-627)aaG>aaT	p.K209N	CLEC4C_ENST00000540085.1_Missense_Mutation_p.K178N|CLEC4C_ENST00000354629.5_Missense_Mutation_p.K178N|CLEC4C_ENST00000360345.3_Missense_Mutation_p.K209N	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	209					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TGTAGATCTTCTTCATCTTGC	0.358																																						dbGAP											0													114.0	105.0	108.0					12																	7882207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.627G>T	12.37:g.7882207C>A	ENSP00000440428:p.Lys209Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.K209N	ENST00000542353.1	37	c.627	CCDS8583.1	12	.	.	.	.	.	.	.	.	.	.	C	6.621	0.482963	0.12581	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	1.73	1.73	0.24493	C-type lectin fold (1);C-type lectin-like (1);	.	.	.	.	T	0.08802	0.0218	N	0.25485	0.75	0.09310	N	0.999998	B;P	0.49961	0.299;0.93	B;B	0.35931	0.203;0.214	T	0.21280	-1.0250	9	0.27082	T	0.32	.	6.9111	0.24335	0.0:1.0:0.0:0.0	.	178;209	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	N	209;178;178;209	ENSP00000440428:K209N;ENSP00000346648:K178N;ENSP00000445338:K178N;ENSP00000353500:K209N	ENSP00000346648:K178N	K	-	3	2	CLEC4C	7773474	0.037000	0.19845	0.335000	0.25508	0.056000	0.15407	1.273000	0.33121	1.280000	0.44463	0.561000	0.74099	AAG	CLEC4C	-	superfamily_C-type_lectin_fold	ENSG00000198178		0.358	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	225	0.00	0	C	NM_203503		7882207	7882207	-1	no_errors	ENST00000360345	ensembl	human	known	69_37n	missense	150	17.58	32	SNP	0.392	A
CLEC4A	50856	genome.wustl.edu	37	12	8289398	8289398	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:8289398G>T	ENST00000229332.5	+	5	712	c.465G>T	c.(463-465)caG>caT	p.Q155H	CLEC4A_ENST00000345999.3_Missense_Mutation_p.Q83H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.Q122H|CLEC4A_ENST00000360500.3_Missense_Mutation_p.Q116H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	155	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCATCTTCCAGAATCTGCAAG	0.413																																						dbGAP											0													78.0	82.0	80.0					12																	8289398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.465G>T	12.37:g.8289398G>T	ENSP00000229332:p.Gln155His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Nonsense_Mutation	SNP	NULL	p.E61*	ENST00000229332.5	37	c.181	CCDS8590.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.65|10.65	1.410333|1.410333	0.25465|0.25465	.|.	.|.	ENSG00000111729|ENSG00000111729	ENST00000546339|ENST00000229332;ENST00000345999;ENST00000352620;ENST00000360500	.|T;T;T;T	.|0.17854	.|2.25;2.25;2.25;2.25	3.98|3.98	-0.188|-0.188	0.13264|0.13264	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|1.092890	.|0.07237	.|N	.|0.863615	.|T	.|0.20455	.|0.0492	M|M	0.62154|0.62154	1.92|1.92	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.50617	.|0.881;0.837;0.937;0.902	.|P;P;B;B	.|0.45610	.|0.484;0.487;0.43;0.411	.|T	.|0.21999	.|-1.0229	.|10	0.87932|0.54805	D|T	0|0.06	.|.	4.6576|4.6576	0.12626|0.12626	0.2056:0.3462:0.4482:0.0|0.2056:0.3462:0.4482:0.0	.|.	.|116;83;122;155	.|Q9UMR7-3;Q9UMR7-4;Q9UMR7-2;Q9UMR7	.|.;.;.;CLC4A_HUMAN	X|H	61|155;83;122;116	.|ENSP00000229332:Q155H;ENSP00000344646:Q83H;ENSP00000247243:Q122H;ENSP00000353690:Q116H	ENSP00000443082:E61X|ENSP00000229332:Q155H	E|Q	+|+	1|3	0|2	CLEC4A|CLEC4A	8180665|8180665	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	0.070000|0.070000	0.14573|0.14573	-0.041000|-0.041000	0.13558|0.13558	-0.145000|-0.145000	0.13849|0.13849	GAA|CAG	CLEC4A	-	NULL	ENSG00000111729		0.413	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4A	HGNC	protein_coding	OTTHUMT00000400257.1	280	0.00	0	G	NM_194450		8289398	8289398	+1	no_start_codon	ENST00000546339	ensembl	human	putative	69_37n	nonsense	147	27.23	55	SNP	0.000	T
CLEC2D	29121	genome.wustl.edu	37	12	9845423	9845423	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:9845423G>T	ENST00000290855.6	+	4	379		c.e4-1		CLEC2D_ENST00000261340.7_Splice_Site|CLEC2D_ENST00000261339.6_Splice_Site|CLEC2D_ENST00000545918.1_Intron|CLEC2D_ENST00000543300.1_Intron	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D						cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						TTTTCTGAAAGAATTTCCTGT	0.378																																						dbGAP											0													76.0	78.0	77.0					12																	9845423		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.358-1G>T	12.37:g.9845423G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Splice_Site	SNP	-	e4-1	ENST00000290855.6	37	c.358-1	CCDS8602.1	12	.	.	.	.	.	.	.	.	.	.	g	8.118	0.780395	0.16120	.	.	ENSG00000069493	ENST00000261340;ENST00000290855;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000460309	.	.	.	3.21	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5625	0.45154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLEC2D	9736690	0.792000	0.28813	0.008000	0.14137	0.072000	0.16883	3.787000	0.55439	1.740000	0.51718	0.511000	0.50034	.	CLEC2D	-	-	ENSG00000069493		0.378	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC2D	HGNC	protein_coding	OTTHUMT00000335424.2	255	0.00	0	G	NM_013269	Intron	9845423	9845423	+1	no_errors	ENST00000261340	ensembl	human	known	69_37n	splice_site	218	15.18	39	SNP	0.023	T
CLEC1B	51266	genome.wustl.edu	37	12	10150939	10150939	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:10150939C>A	ENST00000298527.6	-	2	284	c.105G>T	c.(103-105)ttG>ttT	p.L35F	CLEC1B_ENST00000348658.4_Intron|CLEC1B_ENST00000428126.2_Intron	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	35					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TCAGCAGAATCAAAGCCATCA	0.517																																						dbGAP											0													121.0	130.0	127.0					12																	10150939		2104	4210	6314	-	-	-	SO:0001583	missense	0			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.105G>T	12.37:g.10150939C>A	ENSP00000298527:p.Leu35Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWX7|Q8NHR6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L35F	ENST00000298527.6	37	c.105	CCDS41752.1	12	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216274	0.22373	.	.	ENSG00000165682	ENST00000298527	T	0.01787	4.64	4.37	-0.82	0.10826	C-type lectin-like (1);	0.172848	0.27460	N	0.019270	T	0.02304	0.0071	M	0.86651	2.83	0.37619	D	0.921235	P	0.38110	0.618	B	0.32211	0.142	T	0.48681	-0.9014	10	0.40728	T	0.16	.	0.8198	0.01109	0.1699:0.3867:0.1667:0.2767	.	35	Q9P126	CLC1B_HUMAN	F	35	ENSP00000298527:L35F	ENSP00000298527:L35F	L	-	3	2	CLEC1B	10042206	0.050000	0.20438	0.342000	0.25602	0.722000	0.41435	0.160000	0.16462	-0.199000	0.10317	0.305000	0.20034	TTG	CLEC1B	-	NULL	ENSG00000165682		0.517	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC1B	HGNC	protein_coding	OTTHUMT00000399922.1	848	0.12	1	C	NM_016509		10150939	10150939	-1	no_errors	ENST00000298527	ensembl	human	known	69_37n	missense	460	26.05	162	SNP	0.085	A
CLEC4M	10332	genome.wustl.edu	37	19	7833813	7833813	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:7833813G>A	ENST00000327325.5	+	7	1257	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596707.1_Missense_Mutation_p.R313Q|CLEC4M_ENST00000359059.5_Missense_Mutation_p.R313Q|CLEC4M_ENST00000595496.1_Missense_Mutation_p.R244Q|CLEC4M_ENST00000394122.2_Missense_Mutation_p.R368Q|CLEC4M_ENST00000334806.5_Missense_Mutation_p.R329Q|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000248228.4_Missense_Mutation_p.R358Q|CLEC4M_ENST00000357361.2_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	380	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACGACAATCGATGTGACGTT	0.512																																						dbGAP											0													183.0	157.0	165.0					19																	7833813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.1139G>A	19.37:g.7833813G>A	ENSP00000316228:p.Arg380Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R380Q	ENST00000327325.5	37	c.1139	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206089	0.39003	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	2.46	-2.72	0.05968	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.10380	0.0254	L	0.28694	0.88	0.09310	N	1	P;P;D;P;P;D	0.57257	0.84;0.72;0.977;0.799;0.487;0.979	B;B;B;B;B;B	0.42851	0.129;0.076;0.4;0.156;0.006;0.241	T	0.12967	-1.0527	9	0.66056	D	0.02	.	3.1594	0.06515	0.4152:0.0:0.3845:0.2003	.	329;313;380;368;357;244	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	Q	380;368;358;329;313	ENSP00000316228:R380Q;ENSP00000377680:R368Q;ENSP00000248228:R358Q;ENSP00000335228:R329Q;ENSP00000351954:R313Q	ENSP00000248228:R358Q	R	+	2	0	CLEC4M	7739813	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.045000	0.03528	-0.822000	0.04306	-1.206000	0.01644	CGA	CLEC4M	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000104938		0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	223	0.00	0	G	NM_014257		7833813	7833813	+1	no_errors	ENST00000327325	ensembl	human	known	69_37n	missense	195	14.10	32	SNP	0.000	A
CLEC6A	93978	genome.wustl.edu	37	12	8618153	8618153	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:8618153T>G	ENST00000382073.3	+	4	483	c.297T>G	c.(295-297)gtT>gtG	p.V99V		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	99	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AAGAGAAGGTTTGGTCTAAGA	0.398																																						dbGAP											0													168.0	154.0	159.0					12																	8618153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.297T>G	12.37:g.8618153T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUK3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.V99	ENST00000382073.3	37	c.297	CCDS31739.1	12																																																																																			CLEC6A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000205846		0.398	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC6A	HGNC	protein_coding	OTTHUMT00000400562.1	336	0.00	0	T	NM_001007033		8618153	8618153	+1	no_errors	ENST00000382073	ensembl	human	known	69_37n	silent	275	15.90	52	SNP	0.007	G
CLECL1	160365	genome.wustl.edu	37	12	9875339	9875339	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:9875339A>C	ENST00000327839.3	-	2	421	c.387T>G	c.(385-387)tgT>tgG	p.C129W		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	129	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CAATCCAGTAACATTTTCCCT	0.353																																						dbGAP											0													117.0	105.0	109.0					12																	9875339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.387T>G	12.37:g.9875339A>C	ENSP00000331766:p.Cys129Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.C129W	ENST00000327839.3	37	c.387	CCDS8603.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.68|13.68	2.310204|2.310204	0.40895|0.40895	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.39056|.	1.1|.	3.15|3.15	-0.503|-0.503	0.12000|0.12000	C-type lectin fold (1);C-type lectin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.78310|0.78310	0.4263|0.4263	H|H	0.95079|0.95079	3.62|3.62	0.38501|0.38501	D|D	0.948221|0.948221	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.77227|0.77227	-0.2665|-0.2665	8|5	.|.	.|.	.|.	.|.	5.5017|5.5017	0.16833|0.16833	0.5461:0.0:0.4539:0.0|0.5461:0.0:0.4539:0.0	.|.	129|.	Q8IZS7|.	CLCL1_HUMAN|.	W|G	129|81	ENSP00000331766:C129W|.	.|.	C|V	-|-	3|2	2|0	CLECL1|CLECL1	9766606|9766606	0.975000|0.975000	0.34042|0.34042	0.279000|0.279000	0.24732|0.24732	0.106000|0.106000	0.19336|0.19336	0.082000|0.082000	0.14847|0.14847	0.006000|0.006000	0.14734|0.14734	0.486000|0.486000	0.48141|0.48141	TGT|GTT	CLECL1	-	superfamily_C-type_lectin_fold	ENSG00000184293		0.353	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLECL1	HGNC	protein_coding	OTTHUMT00000399815.1	141	0.00	0	A	NM_172004		9875339	9875339	-1	no_errors	ENST00000327839	ensembl	human	known	69_37n	missense	109	27.81	42	SNP	0.924	C
CLEC9A	283420	genome.wustl.edu	37	12	10218193	10218193	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:10218193T>C	ENST00000355819.1	+	9	1301	c.688T>C	c.(688-690)Ttt>Ctt	p.F230L		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	230	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GTGGAAGTATTTTATCTGTGA	0.428																																						dbGAP											0													200.0	172.0	182.0					12																	10218193		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.688T>C	12.37:g.10218193T>C	ENSP00000348074:p.Phe230Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBM2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.F230L	ENST00000355819.1	37	c.688	CCDS8611.1	12	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247930	0.22880	.	.	ENSG00000197992	ENST00000355819	T	0.22743	1.94	4.79	4.79	0.61399	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40554	N	0.001079	T	0.28699	0.0711	M	0.74258	2.255	0.42635	D	0.993395	B	0.29716	0.255	B	0.36092	0.217	T	0.07654	-1.0761	10	0.39692	T	0.17	.	11.2864	0.49224	0.0:0.0:0.0:1.0	.	230	Q6UXN8	CLC9A_HUMAN	L	230	ENSP00000348074:F230L	ENSP00000348074:F230L	F	+	1	0	CLEC9A	10109460	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	3.370000	0.52372	2.082000	0.62665	0.528000	0.53228	TTT	CLEC9A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000197992		0.428	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1	365	0.00	0	T	NM_207345		10218193	10218193	+1	no_errors	ENST00000355819	ensembl	human	putative	69_37n	missense	234	13.24	36	SNP	1.000	C
CLGN	1047	genome.wustl.edu	37	4	141315154	141315154	+	Silent	SNP	G	G	A	rs76550209		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:141315154G>A	ENST00000325617.5	-	11	1631	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CLGN_ENST00000537281.1_Silent_p.F397F|CLGN_ENST00000414773.1_Silent_p.F397F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	397					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATCATCTTCGAAATAATCTG	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													53.0	59.0	57.0					4																	141315154		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1191C>T	4.37:g.141315154G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS90|B4DXV8|D3DNY8	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.F397	ENST00000325617.5	37	c.1191	CCDS3751.1	4																																																																																			CLGN	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P	ENSG00000153132		0.323	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	176	0.00	0	G	NM_004362		141315154	141315154	-1	no_errors	ENST00000325617	ensembl	human	known	69_37n	silent	82	16.16	16	SNP	1.000	A
CLHC1	130162	genome.wustl.edu	37	2	55433497	55433497	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:55433497G>T	ENST00000401408.1	-	9	1260	c.915C>A	c.(913-915)atC>atA	p.I305I	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Silent_p.I183I|CLHC1_ENST00000407122.1_Silent_p.I305I|CLHC1_ENST00000406437.2_Intron	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	305																	CACCAAGTGAGATTAACTCAT	0.303																																						dbGAP											0													99.0	97.0	98.0					2																	55433497		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 63"""	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.915C>A	2.37:g.55433497G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDV1|Q53R93|Q8N403	Silent	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.I305	ENST00000401408.1	37	c.915	CCDS33201.1	2																																																																																			CLHC1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	ENSG00000162994		0.303	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	550	0.00	0	G	NM_152385		55433497	55433497	-1	no_errors	ENST00000401408	ensembl	human	known	69_37n	silent	357	26.69	130	SNP	0.355	T
CLIP2	7461	genome.wustl.edu	37	7	73790669	73790669	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:73790669C>T	ENST00000395060.1	+	9	1938	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	CLIP2_ENST00000361545.5_Silent_p.I611I|CLIP2_ENST00000223398.6_Silent_p.I646I			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	646						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGAAGGAGATCGGCGAGCTGA	0.617																																						dbGAP											0													55.0	55.0	55.0					7																	73790669		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1938C>T	7.37:g.73790669C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14527|O43611	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.I646	ENST00000395060.1	37	c.1938	CCDS5569.1	7																																																																																			CLIP2	-	superfamily_t-SNARE	ENSG00000106665		0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	64	0.00	0	C	NM_003388		73790669	73790669	+1	no_errors	ENST00000223398	ensembl	human	known	69_37n	silent	34	12.82	5	SNP	0.063	T
CLK2	1196	genome.wustl.edu	37	1	155240677	155240677	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155240677C>A	ENST00000368361.4	-	2	407	c.92G>T	c.(91-93)aGa>aTa	p.R31I	CLK2_ENST00000536801.1_Missense_Mutation_p.R31I|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Missense_Mutation_p.R31I|CLK2_ENST00000355560.4_Missense_Mutation_p.R31I			P49760	CLK2_HUMAN	CDC-like kinase 2	31					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGAGCGACTTCTTCGTCGCTT	0.587								Other conserved DNA damage response genes																														dbGAP											0													131.0	120.0	124.0					1																	155240677		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.92G>T	1.37:g.155240677C>A	ENSP00000357345:p.Arg31Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R31I	ENST00000368361.4	37	c.92		1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.365335	0.82463	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.57107	0.42;0.42;0.43;0.42	4.58	4.58	0.56647	.	0.358277	0.30949	N	0.008557	T	0.64746	0.2626	M	0.71206	2.165	0.80722	D	1	D;D	0.58970	0.972;0.984	D;D	0.71870	0.944;0.975	T	0.69296	-0.5182	10	0.87932	D	0	.	14.935	0.70948	0.0:1.0:0.0:0.0	.	31;31	P49760;P49760-3	CLK2_HUMAN;.	I	31	ENSP00000354856:R31I;ENSP00000357345:R31I;ENSP00000347759:R31I;ENSP00000441023:R31I	ENSP00000347759:R31I	R	-	2	0	CLK2	153507301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.881000	0.75584	2.388000	0.81334	0.549000	0.68633	AGA	CLK2	-	NULL	ENSG00000176444		0.587	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	91	0.00	0	C	NM_003993		155240677	155240677	-1	no_errors	ENST00000368361	ensembl	human	known	69_37n	missense	71	26.04	25	SNP	1.000	A
CLK4	57396	genome.wustl.edu	37	5	178040539	178040539	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:178040539C>A	ENST00000316308.4	-	7	929	c.761G>T	c.(760-762)aGc>aTc	p.S254I		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGGCAGAAAGCTGTTTTCTTT	0.348																																						dbGAP											0													84.0	83.0	83.0					5																	178040539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.761G>T	5.37:g.178040539C>A	ENSP00000316948:p.Ser254Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S254I	ENST00000316308.4	37	c.761	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032166	0.75504	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.66099	-0.19	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.038476	0.85682	D	0.000000	T	0.73575	0.3604	L	0.52759	1.655	0.80722	D	1	D;D;D	0.63880	0.99;0.993;0.993	D;P;P	0.64506	0.926;0.828;0.828	T	0.76094	-0.3085	10	0.87932	D	0	.	16.4975	0.84249	0.0:1.0:0.0:0.0	.	254;254;254	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	I	254	ENSP00000316948:S254I	ENSP00000316948:S254I	S	-	2	0	CLK4	177973145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.442000	0.59988	2.478000	0.83669	0.591000	0.81541	AGC	CLK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000113240		0.348	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	157	0.00	0	C			178040539	178040539	-1	no_errors	ENST00000316308	ensembl	human	known	69_37n	missense	115	27.22	43	SNP	1.000	A
CLMN	79789	genome.wustl.edu	37	14	95670497	95670497	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:95670497C>T	ENST00000298912.4	-	9	1302	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	397					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCACTGATGTCGCTGGTCTTA	0.522																																						dbGAP											0													86.0	82.0	83.0					14																	95670497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1189G>A	14.37:g.95670497C>T	ENSP00000298912:p.Asp397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D397N	ENST00000298912.4	37	c.1189	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022374	0.35701	.	.	ENSG00000165959	ENST00000298912	D	0.92595	-3.07	5.68	-2.35	0.06684	.	1.176570	0.06238	N	0.689886	T	0.79907	0.4527	N	0.04959	-0.14	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.65154	-0.6237	10	0.42905	T	0.14	.	4.2671	0.10768	0.1383:0.5891:0.1306:0.142	.	397	Q96JQ2	CLMN_HUMAN	N	397	ENSP00000298912:D397N	ENSP00000298912:D397N	D	-	1	0	CLMN	94740250	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.487000	0.02310	-0.871000	0.04042	-0.345000	0.07892	GAC	CLMN	-	NULL	ENSG00000165959		0.522	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	183	0.00	0	C			95670497	95670497	-1	no_errors	ENST00000298912	ensembl	human	known	69_37n	missense	182	15.28	33	SNP	0.000	T
CLNK	116449	genome.wustl.edu	37	4	10567663	10567663	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:10567663C>T	ENST00000226951.6	-	6	501	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	CLNK_ENST00000507719.1_Missense_Mutation_p.A46T|CLNK_ENST00000442825.2_Missense_Mutation_p.A46T	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	88					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						ATAGGCCGGGCTGGTAAAATT	0.453																																					GBM(87;402 1286 6949 13902 35851)	dbGAP											0													72.0	70.0	71.0					4																	10567663		1871	4113	5984	-	-	-	SO:0001583	missense	0			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.262G>A	4.37:g.10567663C>T	ENSP00000226951:p.Ala88Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.A88T	ENST00000226951.6	37	c.262	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397080	0.62177	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.61274	0.72;0.12;0.12	5.55	4.65	0.58169	.	0.084489	0.44483	D	0.000454	T	0.65344	0.2682	L	0.36672	1.1	0.35434	D	0.794308	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	T	0.73304	-0.4025	10	0.72032	D	0.01	-17.5751	11.5407	0.50665	0.0:0.8197:0.1803:0.0	.	46;88	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	T	88;88;46;46	ENSP00000226951:A88T;ENSP00000390744:A46T;ENSP00000427208:A46T	ENSP00000226951:A88T	A	-	1	0	CLNK	10176761	0.998000	0.40836	0.994000	0.49952	0.266000	0.26442	1.403000	0.34612	2.616000	0.88540	0.585000	0.79938	GCC	CLNK	-	NULL	ENSG00000109684		0.453	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	104	0.00	0	C	NM_052964		10567663	10567663	-1	no_errors	ENST00000226951	ensembl	human	known	69_37n	missense	45	26.23	16	SNP	0.992	T
CLOCK	9575	genome.wustl.edu	37	4	56336963	56336963	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:56336963C>A	ENST00000309964.4	-	7	609	c.359G>T	c.(358-360)gGt>gTt	p.G120V	CLOCK_ENST00000381322.1_Missense_Mutation_p.G120V|CLOCK_ENST00000513440.1_Missense_Mutation_p.G120V	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	120	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TAAAAAAAAACCATCAAGAGC	0.279																																						dbGAP											0													86.0	91.0	90.0					4																	56336963		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.359G>T	4.37:g.56336963C>A	ENSP00000308741:p.Gly120Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat	p.G120V	ENST00000309964.4	37	c.359	CCDS3500.1	4	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838382	0.91117	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.20332	2.08;2.08;2.08	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75190	-0.3405	10	0.87932	D	0	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	120	O15516	CLOCK_HUMAN	V	120	ENSP00000308741:G120V;ENSP00000370723:G120V;ENSP00000426983:G120V	ENSP00000308741:G120V	G	-	2	0	CLOCK	56031720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.228000	0.78079	2.789000	0.95967	0.591000	0.81541	GGT	CLOCK	-	pfam_PAS_fold,smart_PAS,pfscan_PAS,prints_Nuc_translocat	ENSG00000134852		0.279	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLOCK	HGNC	protein_coding	OTTHUMT00000361993.2	122	0.81	1	C	NM_004898		56336963	56336963	-1	no_errors	ENST00000309964	ensembl	human	known	69_37n	missense	81	19.80	20	SNP	1.000	A
CLSTN2	64084	genome.wustl.edu	37	3	140122610	140122610	+	Silent	SNP	C	C	T	rs74507604	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:140122610C>T	ENST00000458420.3	+	3	562	c.372C>T	c.(370-372)atC>atT	p.I124I	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATTCATCATCCAGGCCTATG	0.587										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	dbGAP											0													123.0	115.0	118.0					3																	140122610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.372C>T	3.37:g.140122610C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I124	ENST00000458420.3	37	c.372	CCDS3112.1	3																																																																																			CLSTN2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000158258		0.587	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	184	0.00	0	C	NM_022131		140122610	140122610	+1	no_errors	ENST00000458420	ensembl	human	known	69_37n	silent	96	16.52	19	SNP	1.000	T
CLVS1	157807	genome.wustl.edu	37	8	62289231	62289231	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:62289231C>T	ENST00000519846.1	+	4	995	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.L175F			Q8IUQ0	CLVS1_HUMAN	clavesin 1	175	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGATCCGGAGCTTCAGATAAA	0.448																																						dbGAP											0													101.0	98.0	99.0					8																	62289231		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.523C>T	8.37:g.62289231C>T	ENSP00000428402:p.Leu175Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.L175F	ENST00000519846.1	37	c.523	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224741	0.79576	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.84589	-1.87;-1.87	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	N	0.11064	0.09	0.80722	D	1	P	0.34757	0.467	B	0.41412	0.356	T	0.74325	-0.3702	10	0.17369	T	0.5	-13.3242	19.691	0.96000	0.0:1.0:0.0:0.0	.	175	Q8IUQ0	CLVS1_HUMAN	F	175	ENSP00000428402:L175F;ENSP00000325506:L175F	ENSP00000325506:L175F	L	+	1	0	CLVS1	62451785	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.089000	0.71384	2.671000	0.90904	0.585000	0.79938	CTT	CLVS1	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000177182		0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	234	0.00	0	C	NM_173519		62289231	62289231	+1	no_errors	ENST00000325897	ensembl	human	known	69_37n	missense	175	13.37	27	SNP	1.000	T
CLYBL	171425	genome.wustl.edu	37	13	100543601	100543601	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:100543601C>T	ENST00000376360.1	+	8	984	c.957C>T	c.(955-957)atC>atT	p.I319I	CLYBL_ENST00000376354.1_Silent_p.I285I|CLYBL_ENST00000376355.3_Silent_p.I285I|CLYBL_ENST00000339105.4_Silent_p.I319I			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	319						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAGTATGATCGACATGCCAT	0.438																																						dbGAP											0													124.0	115.0	118.0					13																	100543601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.957C>T	13.37:g.100543601C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0F7|Q8TDH8	Silent	SNP	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta	p.I319	ENST00000376360.1	37	c.957	CCDS32002.1	13																																																																																			CLYBL	-	pirsf_Citrate_lyase_beta	ENSG00000125246		0.438	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLYBL	HGNC	protein_coding	OTTHUMT00000045611.1	132	0.00	0	C			100543601	100543601	+1	no_errors	ENST00000339105	ensembl	human	known	69_37n	silent	77	19.79	19	SNP	1.000	T
CMAS	55907	genome.wustl.edu	37	12	22208470	22208470	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:22208470G>A	ENST00000229329.2	+	3	615	c.485G>A	c.(484-486)cGa>cAa	p.R162Q		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	162					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GAAATGATTCGAGAAGAAGGA	0.348																																						dbGAP											0													115.0	106.0	109.0					12																	22208470		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.485G>A	12.37:g.22208470G>A	ENSP00000229329:p.Arg162Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	pfam_Cytidylyl_trans,superfamily_HAD-like_dom	p.R162Q	ENST00000229329.2	37	c.485	CCDS8696.1	12	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817278	0.32145	.	.	ENSG00000111726	ENST00000229329;ENST00000538498	.	.	.	5.65	4.76	0.60689	.	0.153957	0.46758	D	0.000267	T	0.28101	0.0693	N	0.20401	0.57	0.31836	N	0.624086	B	0.14805	0.011	B	0.08055	0.003	T	0.27502	-1.0072	9	0.10377	T	0.69	-11.7159	9.321	0.37964	0.2048:0.0:0.7952:0.0	.	162	Q8NFW8	NEUA_HUMAN	Q	162;3	.	ENSP00000229329:R162Q	R	+	2	0	CMAS	22099737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.072000	0.50049	1.393000	0.46605	0.591000	0.81541	CGA	CMAS	-	pfam_Cytidylyl_trans	ENSG00000111726		0.348	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMAS	HGNC	protein_coding	OTTHUMT00000402235.1	283	0.00	0	G	NM_018686		22208470	22208470	+1	no_errors	ENST00000229329	ensembl	human	known	69_37n	missense	188	21.90	53	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79024863	79024863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79024863C>T	ENST00000446378.2	+	2	306	c.275C>T	c.(274-276)tCt>tTt	p.S92F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	92					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCAAGTAGATCTTCTACTCCT	0.443																																						dbGAP											0													241.0	235.0	237.0					5																	79024863		1871	4108	5979	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.275C>T	5.37:g.79024863C>T	ENSP00000394770:p.Ser92Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S92F	ENST00000446378.2	37	c.275	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480744	0.63849	.	.	ENSG00000164309	ENST00000446378	T	0.52295	0.67	5.25	3.3	0.37823	.	0.294816	0.25211	N	0.032304	T	0.49779	0.1577	L	0.27053	0.805	0.26364	N	0.976998	D	0.61080	0.989	P	0.57283	0.817	T	0.48747	-0.9008	10	0.87932	D	0	.	14.2361	0.65927	0.0:0.4551:0.5449:0.0	.	92	Q8N3K9	CMYA5_HUMAN	F	92	ENSP00000394770:S92F	ENSP00000394770:S92F	S	+	2	0	CMYA5	79060619	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	4.010000	0.57117	1.174000	0.42811	0.558000	0.71614	TCT	CMYA5	-	NULL	ENSG00000164309		0.443	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	809	0.00	0	C	NM_153610		79024863	79024863	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	516	26.32	185	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79027509	79027509	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79027509C>A	ENST00000446378.2	+	2	2952	c.2921C>A	c.(2920-2922)tCt>tAt	p.S974Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	974					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGTGCGATTCTCCAATATGT	0.418																																						dbGAP											0													87.0	79.0	81.0					5																	79027509		1903	4139	6042	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2921C>A	5.37:g.79027509C>A	ENSP00000394770:p.Ser974Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S974Y	ENST00000446378.2	37	c.2921	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459200	0.26248	.	.	ENSG00000164309	ENST00000446378	T	0.57273	0.41	5.87	4.92	0.64577	.	0.130363	0.35870	N	0.002929	T	0.54271	0.1848	M	0.63428	1.95	0.23132	N	0.99825	P	0.46621	0.881	P	0.45538	0.484	T	0.56757	-0.7926	10	0.66056	D	0.02	.	12.2533	0.54610	0.1367:0.7431:0.1202:0.0	.	974	Q8N3K9	CMYA5_HUMAN	Y	974	ENSP00000394770:S974Y	ENSP00000394770:S974Y	S	+	2	0	CMYA5	79063265	0.447000	0.25673	0.991000	0.47740	0.027000	0.11550	1.289000	0.33307	2.791000	0.96007	0.655000	0.94253	TCT	CMYA5	-	NULL	ENSG00000164309		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	275	0.00	0	C	NM_153610		79027509	79027509	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	125	32.07	59	SNP	0.878	A
CMYA5	202333	genome.wustl.edu	37	5	79032324	79032324	+	Missense_Mutation	SNP	C	C	A	rs371871117		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79032324C>A	ENST00000446378.2	+	2	7767	c.7736C>A	c.(7735-7737)tCt>tAt	p.S2579Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2579					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTAGGTCATTCTTTGGGTGAA	0.403																																						dbGAP											0													74.0	72.0	72.0					5																	79032324		1888	4104	5992	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7736C>A	5.37:g.79032324C>A	ENSP00000394770:p.Ser2579Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S2579Y	ENST00000446378.2	37	c.7736	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513228	0.27123	.	.	ENSG00000164309	ENST00000446378	T	0.51325	0.71	5.22	4.36	0.52297	.	0.000000	0.47852	D	0.000218	T	0.57140	0.2033	L	0.50333	1.59	0.09310	N	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.49899	-0.8890	10	0.66056	D	0.02	.	9.3922	0.38381	0.0:0.9048:0.0:0.0952	.	2579	Q8N3K9	CMYA5_HUMAN	Y	2579	ENSP00000394770:S2579Y	ENSP00000394770:S2579Y	S	+	2	0	CMYA5	79068080	0.000000	0.05858	0.640000	0.29408	0.545000	0.35147	-0.009000	0.12765	1.442000	0.47568	0.511000	0.50034	TCT	CMYA5	-	NULL	ENSG00000164309		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	368	0.00	0	C	NM_153610		79032324	79032324	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	197	13.22	30	SNP	0.514	A
CMYA5	202333	genome.wustl.edu	37	5	79033484	79033484	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79033484G>A	ENST00000446378.2	+	2	8927	c.8896G>A	c.(8896-8898)Gat>Aat	p.D2966N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2966					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTTCAATCGATCAGGAAGA	0.388																																						dbGAP											0													31.0	31.0	31.0					5																	79033484		1805	4070	5875	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8896G>A	5.37:g.79033484G>A	ENSP00000394770:p.Asp2966Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.D2966N	ENST00000446378.2	37	c.8896	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494617	0.85069	.	.	ENSG00000164309	ENST00000446378	T	0.19806	2.12	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000039	T	0.50854	0.1640	M	0.73598	2.24	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.47935	-0.9078	10	0.72032	D	0.01	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	2966	Q8N3K9	CMYA5_HUMAN	N	2966	ENSP00000394770:D2966N	ENSP00000394770:D2966N	D	+	1	0	CMYA5	79069240	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.769000	0.91742	2.798000	0.96311	0.655000	0.94253	GAT	CMYA5	-	NULL	ENSG00000164309		0.388	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	86	0.00	0	G	NM_153610		79033484	79033484	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79033885	79033885	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79033885A>C	ENST00000446378.2	+	2	9328	c.9297A>C	c.(9295-9297)gaA>gaC	p.E3099D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3099				PQKLNVEEKLSKEVTEETISFPVSSVESALEHEYDLVKLDE -> SFKTIPLPDDSETVACHKTLKSRLEDEKVTPLKENKQK ETQ (in Ref. 3; AAH62664). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTCAGTGGAAAGTGCACTAG	0.378																																						dbGAP											0													44.0	43.0	43.0					5																	79033885		1840	4081	5921	-	-	-	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9297A>C	5.37:g.79033885A>C	ENSP00000394770:p.Glu3099Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E3099D	ENST00000446378.2	37	c.9297	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	A	1.926	-0.447033	0.04572	.	.	ENSG00000164309	ENST00000446378	T	0.19532	2.14	5.84	0.394	0.16299	.	0.228736	0.31134	N	0.008186	T	0.15739	0.0379	L	0.59436	1.845	0.09310	N	1	B	0.21753	0.06	B	0.20577	0.03	T	0.14035	-1.0487	10	0.40728	T	0.16	.	2.4801	0.04585	0.5298:0.2292:0.1299:0.1111	.	3099	Q8N3K9	CMYA5_HUMAN	D	3099	ENSP00000394770:E3099D	ENSP00000394770:E3099D	E	+	3	2	CMYA5	79069641	0.003000	0.15002	0.012000	0.15200	0.003000	0.03518	0.335000	0.19806	0.453000	0.26858	0.533000	0.62120	GAA	CMYA5	-	NULL	ENSG00000164309		0.378	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	86	0.00	0	A	NM_153610		79033885	79033885	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	missense	69	14.81	12	SNP	0.036	C
CMYA5	202333	genome.wustl.edu	37	5	79034305	79034305	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79034305G>A	ENST00000446378.2	+	2	9748	c.9717G>A	c.(9715-9717)gaG>gaA	p.E3239E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3239					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TATATTTTGAGAAGTACATAC	0.418																																						dbGAP											0													63.0	61.0	62.0					5																	79034305		1887	4123	6010	-	-	-	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9717G>A	5.37:g.79034305G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E3239	ENST00000446378.2	37	c.9717	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	248	0.00	0	G	NM_153610		79034305	79034305	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	161	15.26	29	SNP	1.000	A
CMYA5	202333	genome.wustl.edu	37	5	79034765	79034765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79034765G>T	ENST00000446378.2	+	2	10208	c.10177G>T	c.(10177-10179)Gaa>Taa	p.E3393*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3393					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCATGTTCAAGAAACATCACT	0.448																																						dbGAP											0													76.0	75.0	75.0					5																	79034765		1936	4130	6066	-	-	-	SO:0001587	stop_gained	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10177G>T	5.37:g.79034765G>T	ENSP00000394770:p.Glu3393*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E3393*	ENST00000446378.2	37	c.10177	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	52	18.851394	0.99911	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.3077	0.66395	0.0:0.0:0.8509:0.1491	.	.	.	.	X	3393	.	ENSP00000394770:E3393X	E	+	1	0	CMYA5	79070521	1.000000	0.71417	0.943000	0.38184	0.867000	0.49689	7.006000	0.76329	2.749000	0.94314	0.655000	0.94253	GAA	CMYA5	-	NULL	ENSG00000164309		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	240	0.00	0	G	NM_153610		79034765	79034765	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	nonsense	150	16.67	30	SNP	0.980	T
CMYA5	202333	genome.wustl.edu	37	5	79034948	79034948	+	Nonsense_Mutation	SNP	G	G	T	rs369569686		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79034948G>T	ENST00000446378.2	+	2	10391	c.10360G>T	c.(10360-10362)Gga>Tga	p.G3454*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3454					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTATCTCAAGGAAAGGAATC	0.408																																						dbGAP											0													58.0	54.0	55.0					5																	79034948		1895	4115	6010	-	-	-	SO:0001587	stop_gained	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10360G>T	5.37:g.79034948G>T	ENSP00000394770:p.Gly3454*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.G3454*	ENST00000446378.2	37	c.10360	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	51	17.852439	0.99894	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.64	3.79	0.43588	.	0.423324	0.20104	N	0.099166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.9817	0.47499	0.1173:0.0:0.8827:0.0	.	.	.	.	X	3454	.	ENSP00000394770:G3454X	G	+	1	0	CMYA5	79070704	1.000000	0.71417	0.892000	0.35008	0.545000	0.35147	4.563000	0.60823	0.684000	0.31448	-0.302000	0.09304	GGA	CMYA5	-	NULL	ENSG00000164309		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	378	0.00	0	G	NM_153610		79034948	79034948	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	nonsense	247	13.03	37	SNP	0.978	T
CNBD1	168975	genome.wustl.edu	37	8	88364008	88364008	+	Nonsense_Mutation	SNP	C	C	T	rs75840995	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:88364008C>T	ENST00000518476.1	+	9	1189	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	380								p.R380*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGTGAAACTACGATCAAATAA	0.284													C|||	2	0.000399361	0.0	0.0	5008	,	,		14048	0.001		0.001	False		,,,				2504	0.0					dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											66.0	62.0	63.0					8																	88364008		1795	4034	5829	-	-	-	SO:0001587	stop_gained	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1138C>T	8.37:g.88364008C>T	ENSP00000430073:p.Arg380*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R380*	ENST00000518476.1	37	c.1138	CCDS55259.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.98	3.927408	0.73327	.	.	ENSG00000176571	ENST00000518476	.	.	.	5.22	1.26	0.21427	.	1.332330	0.05197	N	0.504149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.1799	2.3862	0.04366	0.1534:0.5309:0.1489:0.1668	.	.	.	.	X	380	.	ENSP00000430073:R380X	R	+	1	2	CNBD1	88433124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.073000	0.14640	-0.062000	0.13088	-0.324000	0.08512	CGA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.284	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	294	0.00	0	C	NM_173538		88364008	88364008	+1	no_errors	ENST00000518476	ensembl	human	known	69_37n	nonsense	145	12.12	20	SNP	0.000	T
CNDP1	84735	genome.wustl.edu	37	18	72244174	72244174	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:72244174A>C	ENST00000358821.3	+	8	1140	c.912A>C	c.(910-912)gaA>gaC	p.E304D	CNDP1_ENST00000582365.1_Missense_Mutation_p.E261D	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	304						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTCTTACAGAAGAGGAAATAA	0.438																																					Melanoma(32;1029 1042 25286 38395 44237)	dbGAP											0													137.0	122.0	127.0					18																	72244174		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.912A>C	18.37:g.72244174A>C	ENSP00000351682:p.Glu304Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.E304D	ENST00000358821.3	37	c.912	CCDS12007.1	18	.	.	.	.	.	.	.	.	.	.	A	5.922	0.354182	0.11182	.	.	ENSG00000150656	ENST00000358821	T	0.15372	2.43	5.28	-1.69	0.08186	Peptidase M20, dimerisation (1);	0.105717	0.64402	D	0.000005	T	0.07818	0.0196	L	0.28274	0.84	0.37365	D	0.911374	B	0.09022	0.002	B	0.12837	0.008	T	0.26916	-1.0089	10	0.22706	T	0.39	-23.2128	2.398	0.04394	0.4914:0.1166:0.2782:0.1138	.	304	Q96KN2	CNDP1_HUMAN	D	304	ENSP00000351682:E304D	ENSP00000351682:E304D	E	+	3	2	CNDP1	70395154	0.119000	0.22226	0.065000	0.19835	0.209000	0.24338	-0.677000	0.05215	-0.290000	0.09025	0.533000	0.62120	GAA	CNDP1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000150656		0.438	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	378	0.00	0	A	NM_032649		72244174	72244174	+1	no_errors	ENST00000358821	ensembl	human	known	69_37n	missense	318	10.67	38	SNP	0.962	C
CNDP2	55748	genome.wustl.edu	37	18	72183517	72183517	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:72183517G>A	ENST00000324262.4	+	9	1274	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	CNDP2_ENST00000324301.8_Missense_Mutation_p.E236K|CNDP2_ENST00000579847.1_Missense_Mutation_p.E320K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	320					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.E320*(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CCATGGCATCGAAGGCGCCTT	0.572																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											172.0	140.0	151.0					18																	72183517		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.958G>A	18.37:g.72183517G>A	ENSP00000325548:p.Glu320Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.E320K	ENST00000324262.4	37	c.958	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917142	0.92249	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.58652	0.32;0.32	5.31	5.31	0.75309	Peptidase M20, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.78637	2.42	0.80722	D	1	D;D	0.69078	0.993;0.997	P;P	0.58266	0.7;0.836	T	0.75861	-0.3168	10	0.48119	T	0.1	-10.9481	18.9583	0.92668	0.0:0.0:1.0:0.0	.	236;320	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	K	320;236	ENSP00000325548:E320K;ENSP00000325756:E236K	ENSP00000325548:E320K	E	+	1	0	CNDP2	70334497	1.000000	0.71417	0.991000	0.47740	0.325000	0.28411	9.756000	0.98918	2.483000	0.83821	0.491000	0.48974	GAA	CNDP2	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.572	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	122	0.00	0	G	NM_018235		72183517	72183517	+1	no_errors	ENST00000324262	ensembl	human	known	69_37n	missense	62	10.14	7	SNP	1.000	A
CNDP1	84735	genome.wustl.edu	37	18	72244217	72244217	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:72244217G>T	ENST00000358821.3	+	8	1183	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	CNDP1_ENST00000582365.1_Nonsense_Mutation_p.E276*	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	319						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AGACCTAGAAGAATACCGGAA	0.438																																					Melanoma(32;1029 1042 25286 38395 44237)	dbGAP											0													106.0	97.0	100.0					18																	72244217		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.955G>T	18.37:g.72244217G>T	ENSP00000351682:p.Glu319*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Nonsense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.E319*	ENST00000358821.3	37	c.955	CCDS12007.1	18	.	.	.	.	.	.	.	.	.	.	G	37	6.411177	0.97546	.	.	ENSG00000150656	ENST00000358821	.	.	.	5.28	4.39	0.52855	.	0.182248	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-36.6787	15.3664	0.74526	0.0:0.1402:0.8598:0.0	.	.	.	.	X	319	.	ENSP00000351682:E319X	E	+	1	0	CNDP1	70395197	0.993000	0.37304	0.018000	0.16275	0.696000	0.40369	2.111000	0.41883	1.196000	0.43129	0.655000	0.94253	GAA	CNDP1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000150656		0.438	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	315	0.00	0	G	NM_032649		72244217	72244217	+1	no_errors	ENST00000358821	ensembl	human	known	69_37n	nonsense	220	16.03	42	SNP	0.820	T
CNGA1	1259	genome.wustl.edu	37	4	47938449	47938449	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:47938449C>T	ENST00000514170.1	-	11	2381	c.2062G>A	c.(2062-2064)Gac>Aac	p.D688N	CNGA1_ENST00000544810.1_Missense_Mutation_p.D688N|CNGA1_ENST00000402813.3_Missense_Mutation_p.D757N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D688N|CNGA1_ENST00000420489.2_Missense_Mutation_p.D688N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	688					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TATGTAGAGTCGATGGGCCCA	0.403																																						dbGAP											0													68.0	66.0	67.0					4																	47938449		1891	4114	6005	-	-	-	SO:0001583	missense	0			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.2062G>A	4.37:g.47938449C>T	ENSP00000426862:p.Asp688Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D757N	ENST00000514170.1	37	c.2269	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	C	5.793	0.330568	0.10956	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96967	-4.08;-4.19;-4.19;-4.19;-4.19	4.78	3.94	0.45596	.	0.337701	0.26769	N	0.022593	D	0.87962	0.6310	N	0.08118	0	0.09310	N	0.999998	B;P	0.35551	0.007;0.509	B;B	0.26969	0.001;0.075	T	0.82116	-0.0616	10	0.48119	T	0.1	.	8.6665	0.34123	0.0:0.7682:0.1521:0.0797	.	688;688	Q4W5E3;P29973	.;CNGA1_HUMAN	N	757;688;688;688;688	ENSP00000384264:D757N;ENSP00000426862:D688N;ENSP00000443401:D688N;ENSP00000351320:D688N;ENSP00000389881:D688N	ENSP00000351320:D688N	D	-	1	0	CNGA1	47633206	0.293000	0.24371	0.335000	0.25508	0.037000	0.13140	0.521000	0.22893	1.240000	0.43803	0.561000	0.74099	GAC	CNGA1	-	NULL	ENSG00000198515		0.403	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	176	0.00	0	C	NM_000087		47938449	47938449	-1	no_errors	ENST00000402813	ensembl	human	known	69_37n	missense	98	10.91	12	SNP	0.223	T
CNGA2	1260	genome.wustl.edu	37	X	150908062	150908062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:150908062G>T	ENST00000329903.4	+	3	265	c.232G>T	c.(232-234)Gaa>Taa	p.E78*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	78					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GATCATCAGAGAATGGGCCAA	0.527																																						dbGAP											0													103.0	81.0	89.0					X																	150908062		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.232G>T	X.37:g.150908062G>T	ENSP00000328478:p.Glu78*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD0	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E78*	ENST00000329903.4	37	c.232	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	g	31	5.104301	0.94245	.	.	ENSG00000183862	ENST00000329903	.	.	.	5.07	2.29	0.28610	.	0.356211	0.31335	N	0.007822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.0626	0.30642	0.0872:0.2954:0.6173:0.0	.	.	.	.	X	78	.	ENSP00000328478:E78X	E	+	1	0	CNGA2	150658718	1.000000	0.71417	0.953000	0.39169	0.787000	0.44495	3.160000	0.50739	0.135000	0.18707	-0.253000	0.11424	GAA	CNGA2	-	NULL	ENSG00000183862		0.527	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	263	0.00	0	G	NM_005140		150908062	150908062	+1	no_errors	ENST00000329903	ensembl	human	known	69_37n	nonsense	145	29.61	61	SNP	1.000	T
CNGA3	1261	genome.wustl.edu	37	2	99008336	99008336	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:99008336C>T	ENST00000272602.2	+	6	615	c.576C>T	c.(574-576)ttC>ttT	p.F192F	CNGA3_ENST00000436404.2_Silent_p.F174F|CNGA3_ENST00000409937.1_Silent_p.F196F|CNGA3_ENST00000393504.1_Silent_p.F192F			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	192					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGCCTGTTTCGATGAGCTGC	0.577																																						dbGAP											0													192.0	137.0	156.0					2																	99008336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.576C>T	2.37:g.99008336C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F192	ENST00000272602.2	37	c.576	CCDS2034.1	2																																																																																			CNGA3	-	NULL	ENSG00000144191		0.577	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	252	0.00	0	C	NM_001298		99008336	99008336	+1	no_errors	ENST00000272602	ensembl	human	known	69_37n	silent	158	23.19	48	SNP	1.000	T
CNGA4	1262	genome.wustl.edu	37	11	6261526	6261526	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6261526C>T	ENST00000379936.2	+	4	617	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	168					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATGCCTTTCGCATTGCCAA	0.582																																						dbGAP											0													74.0	74.0	74.0					11																	6261526		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.502C>T	11.37:g.6261526C>T	ENSP00000369268:p.Arg168Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R168C	ENST00000379936.2	37	c.502	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981524	0.93044	.	.	ENSG00000132259	ENST00000379936	D	0.97303	-4.33	5.25	5.25	0.73442	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99133	0.9701	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99053	1.0828	10	0.87932	D	0	.	17.7596	0.88461	0.0:1.0:0.0:0.0	.	168;128	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	C	168	ENSP00000369268:R168C	ENSP00000369268:R168C	R	+	1	0	CNGA4	6218102	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.736000	0.55052	2.602000	0.87976	0.650000	0.86243	CGC	CNGA4	-	pfam_Ion_trans_dom	ENSG00000132259		0.582	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	70	0.00	0	C	NM_001037329		6261526	6261526	+1	no_errors	ENST00000379936	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	T
CNGB1	1258	genome.wustl.edu	37	16	57974198	57974198	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:57974198C>T	ENST00000251102.8	-	15	1209	c.1149G>A	c.(1147-1149)tcG>tcA	p.S383S	CNGB1_ENST00000564448.1_Silent_p.S377S|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	383					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CGCCCACCTGCGACACCACAC	0.622																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											0													40.0	42.0	41.0					16																	57974198		1992	4159	6151	-	-	-	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1149G>A	16.37:g.57974198C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S383	ENST00000251102.8	37	c.1149	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.622	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	176	0.00	0	C	NM_001297		57974198	57974198	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	silent	69	21.59	19	SNP	0.000	T
CNGB3	54714	genome.wustl.edu	37	8	87588298	87588298	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:87588298C>A	ENST00000320005.5	-	18	2211	c.2164G>T	c.(2164-2166)Gaa>Taa	p.E722*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	722			Missing (in ACHM3). {ECO:0000269|PubMed:15657609}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tcttcattttctttttgttta	0.338																																						dbGAP											0													85.0	87.0	86.0					8																	87588298		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2164G>T	8.37:g.87588298C>A	ENSP00000316605:p.Glu722*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JA51|Q9NRE9	Nonsense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E722*	ENST00000320005.5	37	c.2164	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	c	17.33	3.361568	0.61403	.	.	ENSG00000170289	ENST00000320005	.	.	.	0.399	0.399	0.16325	.	23.481000	0.00616	U	0.000422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	.	.	.	.	.	.	.	X	722	.	ENSP00000316605:E722X	E	-	1	0	CNGB3	87657414	0.156000	0.22821	0.005000	0.12908	0.124000	0.20399	0.233000	0.17911	0.439000	0.26476	0.446000	0.29264	GAA	CNGB3	-	NULL	ENSG00000170289		0.338	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	880	0.00	0	C	NM_019098		87588298	87588298	-1	no_errors	ENST00000320005	ensembl	human	known	69_37n	nonsense	782	10.38	91	SNP	0.007	A
CNIH4	29097	genome.wustl.edu	37	1	224553692	224553692	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:224553692C>T	ENST00000465271.1	+	3	325	c.250C>T	c.(250-252)Cga>Tga	p.R84*	CNIH4_ENST00000366858.3_Splice_Site_p.R84C|CNIH4_ENST00000366856.3_Splice_Site_p.R84*|CNIH4_ENST00000366857.5_Splice_Site_p.R84C|CNIH4_ENST00000468318.1_3'UTR	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	84					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GAATATATATCGGTGAGTATA	0.363																																						dbGAP											0													317.0	268.0	285.0					1																	224553692		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.251+1C>T	1.37:g.224553692C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q8|B2R553|Q9H0X8	Nonsense_Mutation	SNP	pfam_Cornichon	p.R84*	ENST00000465271.1	37	c.250	CCDS1543.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.024816|5.024816	0.93518|0.93518	.|.	.|.	ENSG00000143771|ENSG00000143771	ENST00000366858;ENST00000366857|ENST00000465271;ENST00000366856	T;T|.	0.46451|.	0.87;0.87|.	5.24|5.24	4.3|4.3	0.51218|0.51218	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.33702|.	0.0872|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34502|.	-0.9826|.	6|.	0.87932|0.02654	D|T	0|1	2.616|2.616	13.7331|13.7331	0.62802|0.62802	0.4596:0.5403:0.0:0.0|0.4596:0.5403:0.0:0.0	.|.	.|.	.|.	.|.	C|X	84|84	ENSP00000355823:R84C;ENSP00000355822:R84C|.	ENSP00000355822:R84C|ENSP00000355821:R84X	R|R	+|+	1|1	0|2	CNIH4|CNIH4	222620315|222620315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.610000|3.610000	0.54125|0.54125	1.278000|1.278000	0.44430|0.44430	0.462000|0.462000	0.41574|0.41574	CGT|CGA	CNIH4	-	pfam_Cornichon	ENSG00000143771		0.363	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH4	HGNC	protein_coding	OTTHUMT00000091754.1	447	0.00	0	C	NM_014184	Nonsense_Mutation	224553692	224553692	+1	no_errors	ENST00000465271	ensembl	human	known	69_37n	nonsense	460	13.37	71	SNP	1.000	T
CNNM4	26504	genome.wustl.edu	37	2	97427969	97427969	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:97427969C>T	ENST00000377075.2	+	1	1331	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	411	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCCGGTGTTCGAAGACGAGC	0.522																																						dbGAP											0													136.0	129.0	131.0					2																	97427969		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1233C>T	2.37:g.97427969C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.F411	ENST00000377075.2	37	c.1233	CCDS2024.2	2																																																																																			CNNM4	-	NULL	ENSG00000158158		0.522	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	99	0.00	0	C	NM_020184		97427969	97427969	+1	no_errors	ENST00000377075	ensembl	human	known	69_37n	silent	59	16.67	12	SNP	0.819	T
CNOT1	23019	genome.wustl.edu	37	16	58577650	58577650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:58577650G>T	ENST00000317147.5	-	31	4627	c.4295C>A	c.(4294-4296)tCg>tAg	p.S1432*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.S1427*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.S1432*|CNOT1_ENST00000245138.4_Nonsense_Mutation_p.S283*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1432	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.S1432L(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGATTCCTCCGAATCCAGGGC	0.478																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											121.0	94.0	103.0					16																	58577650		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4295C>A	16.37:g.58577650G>T	ENSP00000320949:p.Ser1432*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.S1432*	ENST00000317147.5	37	c.4295	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936390	0.92458	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	18.9405	0.92604	0.0:0.0:1.0:0.0	.	.	.	.	X	1432;283;1427;1432	.	ENSP00000245138:S283X	S	-	2	0	CNOT1	57135151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.835000	0.99442	2.461000	0.83175	0.585000	0.79938	TCG	CNOT1	-	NULL	ENSG00000125107		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	131	0.00	0	G	NM_016284		58577650	58577650	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	nonsense	61	23.75	19	SNP	1.000	T
CNOT10	25904	genome.wustl.edu	37	3	32778978	32778978	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:32778978T>G	ENST00000328834.5	+	13	1907	c.1591T>G	c.(1591-1593)Tta>Gta	p.L531V	CNOT10_ENST00000331889.6_Intron|CNOT10_ENST00000454516.2_Missense_Mutation_p.L591V|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000538368.1_Missense_Mutation_p.L303V	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	531					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATTAGAAAACTTAAAGTGAGT	0.373																																						dbGAP											0													60.0	58.0	59.0					3																	32778978		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1591T>G	3.37:g.32778978T>G	ENSP00000330060:p.Leu531Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat	p.L591V	ENST00000328834.5	37	c.1771	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	T	18.91	3.722770	0.68959	.	.	ENSG00000182973	ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T	0.66280	0.62;-0.2;0.56	5.46	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76652	0.4017	M	0.81497	2.545	0.53005	D	0.999966	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.80764	0.986;0.994;0.994	T	0.77086	-0.2718	10	0.72032	D	0.01	-8.1827	7.981	0.30183	0.0:0.1592:0.0:0.8408	.	591;530;531	F8WAF2;Q9H9A5-2;Q9H9A5	.;.;CNOTA_HUMAN	V	531;303;591;78	ENSP00000330060:L531V;ENSP00000442552:L303V;ENSP00000399862:L591V	ENSP00000330060:L531V	L	+	1	2	CNOT10	32753982	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	2.833000	0.48159	0.919000	0.36945	0.533000	0.62120	TTA	CNOT10	-	NULL	ENSG00000182973		0.373	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2	116	0.00	0	T	NM_015442		32778978	32778978	+1	no_errors	ENST00000454516	ensembl	human	known	69_37n	missense	132	19.51	32	SNP	1.000	G
CNOT2	4848	genome.wustl.edu	37	12	70704744	70704744	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:70704744G>A	ENST00000418359.3	+	4	569	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	CNOT2_ENST00000229195.3_Missense_Mutation_p.E40K	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	40					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTACCATGACGAAAACATGTA	0.368																																						dbGAP											0													107.0	102.0	104.0					12																	70704744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.118G>A	12.37:g.70704744G>A	ENSP00000412091:p.Glu40Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.E40K	ENST00000418359.3	37	c.118	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878566	0.91740	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000551132;ENST00000552915;ENST00000552483;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000547867;ENST00000550194	T;T;T;T	0.48836	0.8;0.8;0.83;0.8	6.16	6.16	0.99307	.	0.042849	0.85682	D	0.000000	T	0.33990	0.0882	L	0.29908	0.895	0.80722	D	1	P	0.47545	0.897	B	0.27380	0.079	T	0.25433	-1.0132	10	0.42905	T	0.14	-9.7631	20.8598	0.99761	0.0:0.0:1.0:0.0	.	40	Q9NZN8	CNOT2_HUMAN	K	40;40;40;40;20;40;31;20;31;40;40;31;40	ENSP00000229195:E40K;ENSP00000412091:E40K;ENSP00000449659:E31K;ENSP00000449260:E40K	ENSP00000229195:E40K	E	+	1	0	CNOT2	68991011	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	GAA	CNOT2	-	NULL	ENSG00000111596		0.368	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	409	0.49	2	G			70704744	70704744	+1	no_errors	ENST00000229195	ensembl	human	known	69_37n	missense	174	23.01	52	SNP	1.000	A
CNPPD1	27013	genome.wustl.edu	37	2	220039574	220039574	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220039574C>T	ENST00000409789.1	-	6	863	c.436G>A	c.(436-438)Gac>Aac	p.D146N	CNPPD1_ENST00000360507.5_Missense_Mutation_p.D146N			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	146					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CCCCATTCGTCGTTGAAGACC	0.577																																						dbGAP											0													84.0	79.0	81.0					2																	220039574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.436G>A	2.37:g.220039574C>T	ENSP00000386277:p.Asp146Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	p.D146N	ENST00000409789.1	37	c.436	CCDS2433.1	2	.	.	.	.	.	.	.	.	.	.	C	30	5.057590	0.93846	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.41400	1.0;1.0;1.0	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59506	-0.7442	10	0.46703	T	0.11	-8.2328	17.2453	0.87026	0.0:1.0:0.0:0.0	.	146	Q9BV87	CNPD1_HUMAN	N	146;146;146;173	ENSP00000353698:D146N;ENSP00000386277:D146N;ENSP00000410109:D146N	ENSP00000353698:D146N	D	-	1	0	CNPPD1	219747818	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	7.552000	0.82192	2.309000	0.77851	0.561000	0.74099	GAC	CNPPD1	-	pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	ENSG00000115649		0.577	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNPPD1	HGNC	protein_coding	OTTHUMT00000336220.1	141	0.00	0	C	NM_015680		220039574	220039574	-1	no_errors	ENST00000360507	ensembl	human	known	69_37n	missense	94	10.48	11	SNP	1.000	T
CNPY1	285888	genome.wustl.edu	37	7	155301642	155301642	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:155301642C>A	ENST00000321736.5	-	2	253	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	CNPY1_ENST00000406197.1_Nonsense_Mutation_p.E31*|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	31										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTTTAAATTCTTGGTATATT	0.393																																						dbGAP											0													70.0	68.0	69.0					7																	155301642		1794	4063	5857	-	-	-	SO:0001587	stop_gained	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.91G>T	7.37:g.155301642C>A	ENSP00000317439:p.Glu31*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGX3	Nonsense_Mutation	SNP	pfam_DUF3456	p.E31*	ENST00000321736.5	37	c.91	CCDS43684.1	7	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451695	0.84209	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	.	.	.	4.85	3.97	0.46021	.	0.113150	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.5333	13.0695	0.59053	0.0:0.922:0.0:0.078	.	.	.	.	X	31	.	ENSP00000317439:E31X	E	-	1	0	CNPY1	154994403	1.000000	0.71417	0.554000	0.28268	0.413000	0.31143	4.252000	0.58785	1.037000	0.40024	0.557000	0.71058	GAA	CNPY1	-	pfam_DUF3456	ENSG00000146910		0.393	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	83	0.00	0	C	XM_001129537		155301642	155301642	-1	no_errors	ENST00000321736	ensembl	human	putative	69_37n	nonsense	51	10.53	6	SNP	0.999	A
CNTLN	54875	genome.wustl.edu	37	9	17342375	17342375	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:17342375G>T	ENST00000380647.3	+	12	1903	c.1819G>T	c.(1819-1821)Gat>Tat	p.D607Y	CNTLN_ENST00000425824.1_Missense_Mutation_p.D607Y|CNTLN_ENST00000262360.5_Missense_Mutation_p.D607Y			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	607					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCGACAAGAAGATTCTGACGC	0.348																																						dbGAP											0													70.0	67.0	68.0					9																	17342375		1831	4082	5913	-	-	-	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1819G>T	9.37:g.17342375G>T	ENSP00000370021:p.Asp607Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.D607Y	ENST00000380647.3	37	c.1819	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384221	0.42308	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.11930	2.73;2.73;2.73	5.45	4.55	0.56014	.	.	.	.	.	T	0.35913	0.0948	M	0.71581	2.175	0.47153	D	0.999335	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.09058	-1.0692	9	0.48119	T	0.1	.	14.0647	0.64821	0.0725:0.0:0.9275:0.0	.	607;607;607	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	Y	607	ENSP00000370021:D607Y;ENSP00000392798:D607Y;ENSP00000262360:D607Y	ENSP00000262360:D607Y	D	+	1	0	CNTLN	17332375	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.696000	0.68287	1.299000	0.44798	0.563000	0.77884	GAT	CNTLN	-	NULL	ENSG00000044459		0.348	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	212	0.00	0	G	NM_017738		17342375	17342375	+1	no_errors	ENST00000380647	ensembl	human	known	69_37n	missense	139	13.66	22	SNP	1.000	T
CNTN1	1272	genome.wustl.edu	37	12	41333271	41333271	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:41333271C>T	ENST00000551295.2	+	12	1480	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	CNTN1_ENST00000547849.1_Missense_Mutation_p.L455F|CNTN1_ENST00000347616.1_Missense_Mutation_p.L455F|CNTN1_ENST00000360099.3_Missense_Mutation_p.L455F|CNTN1_ENST00000348761.2_Missense_Mutation_p.L444F|CNTN1_ENST00000547702.1_Missense_Mutation_p.L455F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	455	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GACAGAGTGGCTTGTCAATAG	0.368																																						dbGAP											0													72.0	72.0	72.0					12																	41333271		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1363C>T	12.37:g.41333271C>T	ENSP00000447006:p.Leu455Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L455F	ENST00000551295.2	37	c.1363	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285095	0.80803	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.98	4.98	0.66077	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.70903	2.155	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85181	0.1004	10	0.66056	D	0.02	.	19.1482	0.93477	0.0:1.0:0.0:0.0	.	455;444;455	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	F	455;455;455;455;455;444	ENSP00000448004:L455F;ENSP00000447006:L455F;ENSP00000448653:L455F;ENSP00000325660:L455F;ENSP00000353213:L455F;ENSP00000261160:L444F	ENSP00000325660:L455F	L	+	1	0	CNTN1	39619538	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.252000	0.78309	2.689000	0.91719	0.561000	0.74099	CTT	CNTN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000018236		0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	262	0.00	0	C	NM_001843		41333271	41333271	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	177	11.94	24	SNP	1.000	T
CNTN3	5067	genome.wustl.edu	37	3	74347205	74347205	+	Silent	SNP	G	G	A	rs190326209	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:74347205G>A	ENST00000263665.6	-	17	2331	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	768	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATGGCACGATGCTTTCAT	0.453													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19189	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													158.0	154.0	155.0					3																	74347205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2304C>T	3.37:g.74347205G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I768	ENST00000263665.6	37	c.2304	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.453	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	335	0.00	0	G	NM_020872		74347205	74347205	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	silent	249	12.20	35	SNP	0.575	A
CNTN6	27255	genome.wustl.edu	37	3	1337431	1337431	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:1337431A>G	ENST00000446702.2	+	6	1228	c.601A>G	c.(601-603)Aaa>Gaa	p.K201E	CNTN6_ENST00000539053.1_Missense_Mutation_p.K129E|CNTN6_ENST00000350110.2_Missense_Mutation_p.K201E			Q9UQ52	CNTN6_HUMAN	contactin 6	201	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TATAACTAACAAAGAGGCCCA	0.438																																						dbGAP											0													83.0	76.0	79.0					3																	1337431		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.601A>G	3.37:g.1337431A>G	ENSP00000407822:p.Lys201Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K201E	ENST00000446702.2	37	c.601	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469923	0.26423	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.65364	-0.15;-0.15;-0.15	5.95	2.02	0.26589	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.005240	0.07999	N	0.988436	T	0.39886	0.1095	N	0.20574	0.59	0.24831	N	0.992523	B;B	0.29671	0.254;0.0	B;B	0.34590	0.186;0.003	T	0.36915	-0.9728	10	0.05525	T	0.97	.	1.3039	0.02085	0.429:0.2667:0.1752:0.1291	.	129;201	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	E	201;129;201	ENSP00000407822:K201E;ENSP00000442791:K129E;ENSP00000341882:K201E	ENSP00000341882:K201E	K	+	1	0	CNTN6	1312431	0.026000	0.19158	0.859000	0.33776	0.898000	0.52572	0.462000	0.21956	0.385000	0.24970	0.533000	0.62120	AAA	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000134115		0.438	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	167	0.00	0	A	NM_014461		1337431	1337431	+1	no_errors	ENST00000350110	ensembl	human	known	69_37n	missense	118	15.71	22	SNP	0.661	G
CNTN6	27255	genome.wustl.edu	37	3	1371511	1371511	+	Missense_Mutation	SNP	C	C	A	rs575054347	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:1371511C>A	ENST00000446702.2	+	11	1883	c.1256C>A	c.(1255-1257)tCt>tAt	p.S419Y	CNTN6_ENST00000539053.1_Missense_Mutation_p.S347Y|CNTN6_ENST00000350110.2_Missense_Mutation_p.S419Y			Q9UQ52	CNTN6_HUMAN	contactin 6	419	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAAAAAGTCTTTTGTTCAA	0.383													C|||	6	0.00119808	0.0	0.0	5008	,	,		14223	0.0		0.0	False		,,,				2504	0.0061					dbGAP											0													81.0	84.0	83.0					3																	1371511		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1256C>A	3.37:g.1371511C>A	ENSP00000407822:p.Ser419Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S419Y	ENST00000446702.2	37	c.1256	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274467	0.59649	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67171	-0.25;-0.25;-0.25	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.48767	D	0.000173	T	0.65365	0.2684	N	0.05230	-0.09	0.31186	N	0.701492	D	0.89917	1.0	D	0.91635	0.999	T	0.64356	-0.6427	10	0.19147	T	0.46	.	18.0493	0.89343	0.0:1.0:0.0:0.0	.	419	Q9UQ52	CNTN6_HUMAN	Y	419;347;419	ENSP00000407822:S419Y;ENSP00000442791:S347Y;ENSP00000341882:S419Y	ENSP00000341882:S419Y	S	+	2	0	CNTN6	1346511	0.957000	0.32711	0.027000	0.17364	0.401000	0.30781	4.026000	0.57232	2.689000	0.91719	0.563000	0.77884	TCT	CNTN6	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000134115		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	263	0.00	0	C	NM_014461		1371511	1371511	+1	no_errors	ENST00000350110	ensembl	human	known	69_37n	missense	155	12.92	23	SNP	0.427	A
CNTN4	152330	genome.wustl.edu	37	3	2787337	2787337	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:2787337C>T	ENST00000397461.1	+	5	698	c.314C>T	c.(313-315)tCg>tTg	p.S105L	CNTN4_ENST00000418658.1_Missense_Mutation_p.S105L|CNTN4_ENST00000427331.1_Missense_Mutation_p.S105L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	105	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCGACAAACTCGTTTGGAACA	0.408																																						dbGAP											0													148.0	139.0	142.0					3																	2787337		1941	4138	6079	-	-	-	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.314C>T	3.37:g.2787337C>T	ENSP00000380602:p.Ser105Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S105L	ENST00000397461.1	37	c.314	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046198	0.55110	.	.	ENSG00000144619	ENST00000422330;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.248715	0.35235	N	0.003360	T	0.59932	0.2230	L	0.31752	0.955	0.80722	D	1	P;P	0.47762	0.812;0.9	B;B	0.41764	0.366;0.187	T	0.60372	-0.7276	10	0.39692	T	0.17	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	105;105	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	L	105;105;105;123;105	ENSP00000408594:S105L;ENSP00000396010:S105L;ENSP00000380602:S105L;ENSP00000404085:S123L;ENSP00000413642:S105L	ENSP00000380602:S105L	S	+	2	0	CNTN4	2762337	0.996000	0.38824	0.979000	0.43373	0.992000	0.81027	3.623000	0.54224	2.736000	0.93811	0.655000	0.94253	TCG	CNTN4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144619		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	451	0.00	0	C			2787337	2787337	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	missense	181	32.96	89	SNP	0.996	T
CNTN4	152330	genome.wustl.edu	37	3	2967408	2967408	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:2967408C>T	ENST00000397461.1	+	12	1687	c.1303C>T	c.(1303-1305)Cca>Tca	p.P435S	CNTN4_ENST00000418658.1_Missense_Mutation_p.P435S|CNTN4_ENST00000358480.3_Missense_Mutation_p.P216S|CNTN4_ENST00000427331.1_Missense_Mutation_p.P435S|CNTN4_ENST00000397459.2_Missense_Mutation_p.P107S|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.P107S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	435	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAGCGTCTCCAAAACCTGT	0.353																																						dbGAP											0													127.0	137.0	134.0					3																	2967408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1303C>T	3.37:g.2967408C>T	ENSP00000380602:p.Pro435Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P435S	ENST00000397461.1	37	c.1303	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117426	0.77323	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906;ENST00000473845	T;T;T;T;T;T;D	0.97791	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-4.54	4.94	4.94	0.65067	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	M	0.93420	3.415	0.80722	D	1	D;D;D	0.76494	0.995;0.998;0.999	D;D;D	0.75484	0.936;0.986;0.986	D	0.99433	1.0936	10	0.87932	D	0	.	18.3495	0.90333	0.0:1.0:0.0:0.0	.	435;435;435	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	S	435;435;435;216;107;107;113	ENSP00000396010:P435S;ENSP00000380602:P435S;ENSP00000413642:P435S;ENSP00000351267:P216S;ENSP00000380600:P107S;ENSP00000392077:P107S;ENSP00000422120:P113S	ENSP00000351267:P216S	P	+	1	0	CNTN4	2942408	1.000000	0.71417	0.917000	0.36280	0.969000	0.65631	3.769000	0.55303	2.563000	0.86464	0.467000	0.42956	CCA	CNTN4	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144619		0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	271	0.00	0	C			2967408	2967408	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	missense	196	13.10	30	SNP	1.000	T
CNTN3	5067	genome.wustl.edu	37	3	74535628	74535628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:74535628C>A	ENST00000263665.6	-	3	364	c.337G>T	c.(337-339)Gaa>Taa	p.E113*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	113	Ig-like C2-type 1.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGTTTGGCTTCTCTGCTGACA	0.348																																						dbGAP											0													129.0	126.0	127.0					3																	74535628		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.337G>T	3.37:g.74535628C>A	ENSP00000263665:p.Glu113*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK50|Q9H039	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E113*	ENST00000263665.6	37	c.337	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.076704	0.97262	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.83	5.83	0.93111	.	0.181389	0.49305	D	0.000151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	17.6078	0.88044	0.0:1.0:0.0:0.0	.	.	.	.	X	113	.	ENSP00000263665:E113X	E	-	1	0	CNTN3	74618318	0.995000	0.38212	1.000000	0.80357	0.889000	0.51656	1.031000	0.30165	2.763000	0.94921	0.585000	0.79938	GAA	CNTN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000113805		0.348	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	600	0.00	0	C	NM_020872		74535628	74535628	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	nonsense	214	27.36	81	SNP	1.000	A
CNTNAP2	26047	genome.wustl.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:146997332G>A	ENST00000361727.3	+	9	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	483	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423										HNSCC(39;0.1)																												dbGAP											0													145.0	132.0	136.0					7																	146997332		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1448G>A	7.37:g.146997332G>A	ENSP00000354778:p.Arg483Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R483Q	ENST00000361727.3	37	c.1448	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709276	0.48517	.	.	ENSG00000174469	ENST00000361727	T	0.77750	-1.12	5.95	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000015	T	0.70996	0.3288	L	0.55481	1.735	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.67173	-0.5737	10	0.13470	T	0.59	.	13.8215	0.63322	0.074:0.0:0.926:0.0	.	483	Q9UHC6	CNTP2_HUMAN	Q	483	ENSP00000354778:R483Q	ENSP00000354778:R483Q	R	+	2	0	CNTNAP2	146628265	1.000000	0.71417	0.278000	0.24718	0.771000	0.43674	7.350000	0.79385	1.513000	0.48852	0.563000	0.77884	CGA	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	351	0.00	0	G			146997332	146997332	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	missense	203	15.06	36	SNP	0.998	A
CNTNAP3	79937	genome.wustl.edu	37	9	39088594	39088594	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:39088594C>T	ENST00000297668.6	-	19	3119	c.3046G>A	c.(3046-3048)Gaa>Aaa	p.E1016K	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.E928K|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.E935K	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1016	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGTAATGTTCTTGAAAATGG	0.363																																						dbGAP											0													2.0	2.0	2.0					9																	39088594		979	2188	3167	-	-	-	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3046G>A	9.37:g.39088594C>T	ENSP00000297668:p.Glu1016Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E1016K	ENST00000297668.6	37	c.3046	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988154	0.53934	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	T;T;T	0.78924	-1.22;-1.22;-1.22	2.9	2.9	0.33743	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.79902	0.4526	M	0.75777	2.31	0.80722	D	1	P;B;P	0.40431	0.717;0.442;0.701	P;B;B	0.47864	0.559;0.091;0.285	T	0.76405	-0.2971	9	0.16896	T	0.51	.	12.8475	0.57837	0.0:1.0:0.0:0.0	.	1016;935;1016	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	K	1016;935;928	ENSP00000297668:E1016K;ENSP00000366884:E935K;ENSP00000350863:E928K	ENSP00000297668:E1016K	E	-	1	0	CNTNAP3	39078594	1.000000	0.71417	0.407000	0.26434	0.236000	0.25371	5.946000	0.70234	1.625000	0.50366	0.485000	0.47835	GAA	CNTNAP3	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000106714		0.363	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	125	0.00	0	C	NM_033655		39088594	39088594	-1	no_errors	ENST00000297668	ensembl	human	known	69_37n	missense	76	13.64	12	SNP	1.000	T
CNTNAP3B	728577	genome.wustl.edu	37	9	43818119	43818119	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:43818119C>A	ENST00000377564.3	+	7	1399	c.1006C>A	c.(1006-1008)Ctt>Att	p.L336I	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.L336I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	336	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TTTAGAAAATCTTTATTATAA	0.393																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1006C>A	9.37:g.43818119C>A	ENSP00000366787:p.Leu336Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L336I	ENST00000377564.3	37	c.1006	CCDS55312.1	9	.	.	.	.	.	.	.	.	.	.	C	7.997	0.754593	0.15778	.	.	ENSG00000154529	ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	T;T	0.81330	-1.48;-1.48	2.68	0.554	0.17241	.	.	.	.	.	T	0.65780	0.2724	N	0.25031	0.7	0.25362	N	0.988779	.	.	.	.	.	.	T	0.50101	-0.8867	7	0.11182	T	0.66	.	9.5473	0.39288	0.53:0.47:0.0:0.0	.	.	.	.	I	336	ENSP00000366787:L336I;ENSP00000276974:L336I	ENSP00000276974:L336I	L	+	1	0	CNTNAP3B	43758115	0.948000	0.32251	0.990000	0.47175	0.967000	0.64934	0.292000	0.19011	0.009000	0.14813	-1.376000	0.01182	CTT	CNTNAP3B	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000154529		0.393	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	97	0.00	0	C			43818119	43818119	+1	no_errors	ENST00000377564	ensembl	human	known	69_37n	missense	55	28.57	22	SNP	1.000	A
CNTNAP5	129684	genome.wustl.edu	37	2	125232366	125232366	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:125232366G>T	ENST00000431078.1	+	7	1333	c.969G>T	c.(967-969)aaG>aaT	p.K323N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	323	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTTTTAAAGAAAAACTTCC	0.373																																						dbGAP											0													49.0	45.0	46.0					2																	125232366		1812	4075	5887	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.969G>T	2.37:g.125232366G>T	ENSP00000399013:p.Lys323Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K323N	ENST00000431078.1	37	c.969	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023891	0.54683	.	.	ENSG00000155052	ENST00000431078	T	0.77877	-1.13	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.116034	0.37955	N	0.001875	T	0.81331	0.4800	L	0.28014	0.82	0.39218	D	0.963453	D	0.65815	0.995	D	0.65443	0.935	T	0.80582	-0.1318	10	0.36615	T	0.2	.	19.112	0.93319	0.0:0.0:1.0:0.0	.	323	Q8WYK1	CNTP5_HUMAN	N	323	ENSP00000399013:K323N	ENSP00000399013:K323N	K	+	3	2	CNTNAP5	124948836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.831000	0.62752	2.823000	0.97156	0.591000	0.81541	AAG	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.373	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	178	0.00	0	G			125232366	125232366	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	108	16.28	21	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125367443	125367443	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:125367443G>A	ENST00000431078.1	+	12	2183	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	607	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.D607H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTCTACATCGACTCAGATGG	0.532																																						dbGAP											1	Substitution - Missense(1)	lung(1)											75.0	74.0	74.0					2																	125367443		1876	4105	5981	-	-	-	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1819G>A	2.37:g.125367443G>A	ENSP00000399013:p.Asp607Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D607N	ENST00000431078.1	37	c.1819	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942314	0.92526	.	.	ENSG00000155052	ENST00000431078	T	0.19938	2.11	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.52532	D	0.000078	T	0.60560	0.2278	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70586	-0.4831	10	0.66056	D	0.02	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	607	Q8WYK1	CNTP5_HUMAN	N	607	ENSP00000399013:D607N	ENSP00000399013:D607N	D	+	1	0	CNTNAP5	125083913	1.000000	0.71417	0.374000	0.26016	0.621000	0.37620	8.884000	0.92432	2.826000	0.97356	0.655000	0.94253	GAC	CNTNAP5	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000155052		0.532	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	101	0.00	0	G			125367443	125367443	+1	no_errors	ENST00000431078	ensembl	human	known	69_37n	missense	60	29.41	25	SNP	0.996	A
CNTRL	11064	genome.wustl.edu	37	9	123860707	123860707	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:123860707C>A	ENST00000373855.1	+	7	925	c.665C>A	c.(664-666)tCt>tAt	p.S222Y	CNTRL_ENST00000373865.2_Missense_Mutation_p.S222Y|CNTRL_ENST00000238341.5_Missense_Mutation_p.S222Y			Q7Z7A1	CNTRL_HUMAN	centriolin	222					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GATTTGATTTCTCTGATCCTA	0.348																																						dbGAP											0													116.0	109.0	111.0					9																	123860707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.665C>A	9.37:g.123860707C>A	ENSP00000362962:p.Ser222Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.S222Y	ENST00000373855.1	37	c.665	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460846	0.84317	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.45276	0.9;0.9	5.62	5.62	0.85841	.	.	.	.	.	T	0.48333	0.1494	L	0.36672	1.1	0.37938	D	0.932215	D	0.57257	0.979	P	0.52189	0.692	T	0.53620	-0.8413	9	0.66056	D	0.02	.	18.6525	0.91435	0.0:1.0:0.0:0.0	.	222	Q7Z7A1	CNTRL_HUMAN	Y	222	ENSP00000362962:S222Y;ENSP00000238341:S222Y	ENSP00000238341:S222Y	S	+	2	0	CNTRL	122900528	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	5.673000	0.68109	2.634000	0.89283	0.655000	0.94253	TCT	CNTRL	-	NULL	ENSG00000119397		0.348	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	307	0.00	0	C	NM_007018		123860707	123860707	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	260	10.34	30	SNP	1.000	A
CNTRL	11064	genome.wustl.edu	37	9	123922473	123922473	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:123922473T>C	ENST00000373855.1	+	32	5242	c.4982T>C	c.(4981-4983)gTt>gCt	p.V1661A	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.V1661A|CNTRL_ENST00000373844.1_Missense_Mutation_p.V106A|CNTRL_ENST00000373850.1_Missense_Mutation_p.V1109A			Q7Z7A1	CNTRL_HUMAN	centriolin	1661					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAACTAAATGTTCAGATTAGT	0.318																																						dbGAP											0													60.0	68.0	65.0					9																	123922473		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4982T>C	9.37:g.123922473T>C	ENSP00000362962:p.Val1661Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.V1661A	ENST00000373855.1	37	c.4982	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818441	0.16607	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000431571;ENST00000373845;ENST00000373844	T;T;T	0.29142	1.58;1.58;1.58	5.55	5.55	0.83447	.	.	.	.	.	T	0.21761	0.0524	L	0.46157	1.445	0.38550	D	0.949446	B	0.24963	0.115	B	0.15870	0.014	T	0.08973	-1.0696	9	0.08381	T	0.77	.	8.2435	0.31673	0.0:0.1528:0.0:0.8472	.	1661	Q7Z7A1	CNTRL_HUMAN	A	1661;1661;1661;417;1109;330;343;106	ENSP00000362962:V1661A;ENSP00000238341:V1661A;ENSP00000362956:V1109A	ENSP00000238341:V1661A	V	+	2	0	CNTRL	122962294	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.313000	0.33585	2.115000	0.64714	0.482000	0.46254	GTT	CNTRL	-	NULL	ENSG00000119397		0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	125	0.00	0	T	NM_007018		123922473	123922473	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	78	21.21	21	SNP	1.000	C
COBLL1	22837	genome.wustl.edu	37	2	165551376	165551376	+	Missense_Mutation	SNP	C	C	A	rs143482035		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:165551376C>A	ENST00000392717.2	-	13	2758	c.2754G>T	c.(2752-2754)ttG>ttT	p.L918F	COBLL1_ENST00000194871.6_Missense_Mutation_p.L947F|COBLL1_ENST00000375458.2_Missense_Mutation_p.L842F|COBLL1_ENST00000342193.4_Missense_Mutation_p.L880F|COBLL1_ENST00000409184.3_Missense_Mutation_p.L880F			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	918						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTATTTCTTCCAAATTTGGTG	0.423																																						dbGAP											0													65.0	65.0	65.0					2																	165551376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2754G>T	2.37:g.165551376C>A	ENSP00000376478:p.Leu918Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.L947F	ENST00000392717.2	37	c.2841		2	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275787	0.59649	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.17	2.14	0.27477	.	0.000000	0.53938	D	0.000054	T	0.62011	0.2393	M	0.64997	1.995	0.33658	D	0.609383	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.66460	-0.5918	9	0.34782	T	0.22	-7.4206	5.771	0.18253	0.1258:0.5181:0.0:0.3561	.	918;947;880	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	F	842;880;880;918;947	.	ENSP00000194871:L947F	L	-	3	2	COBLL1	165259622	0.963000	0.33076	1.000000	0.80357	0.993000	0.82548	0.259000	0.18405	0.934000	0.37316	0.655000	0.94253	TTG	COBLL1	-	NULL	ENSG00000082438		0.423	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		94	0.00	0	C	NM_014900		165551376	165551376	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	missense	88	11.11	11	SNP	0.746	A
COBLL1	22837	genome.wustl.edu	37	2	165551966	165551966	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:165551966T>G	ENST00000392717.2	-	13	2168	c.2164A>C	c.(2164-2166)Agt>Cgt	p.S722R	COBLL1_ENST00000194871.6_Missense_Mutation_p.S751R|COBLL1_ENST00000375458.2_Missense_Mutation_p.S646R|COBLL1_ENST00000342193.4_Missense_Mutation_p.S684R|COBLL1_ENST00000409184.3_Missense_Mutation_p.S684R			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	722						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTTGTGAACTTAAGCATGAG	0.363																																						dbGAP											0													146.0	143.0	144.0					2																	165551966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2164A>C	2.37:g.165551966T>G	ENSP00000376478:p.Ser722Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.S751R	ENST00000392717.2	37	c.2251		2	.	.	.	.	.	.	.	.	.	.	T	0.154	-1.088342	0.01873	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.06	-0.485	0.12067	.	1.085760	0.06794	N	0.787616	T	0.31796	0.0808	L	0.50333	1.59	0.09310	N	1	B;B;B	0.12630	0.003;0.003;0.006	B;B;B	0.11329	0.002;0.003;0.006	T	0.25502	-1.0130	9	0.27082	T	0.32	-7.0E-4	2.3838	0.04361	0.1305:0.1971:0.4432:0.2293	.	722;751;684	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	R	646;684;684;722;751	.	ENSP00000194871:S751R	S	-	1	0	COBLL1	165260212	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.108000	0.15396	-0.072000	0.12864	-0.327000	0.08410	AGT	COBLL1	-	NULL	ENSG00000082438		0.363	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		241	0.00	0	T	NM_014900		165551966	165551966	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	missense	205	16.33	40	SNP	0.000	G
COG1	9382	genome.wustl.edu	37	17	71197915	71197915	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:71197915G>T	ENST00000299886.4	+	7	2029	c.1949G>T	c.(1948-1950)aGa>aTa	p.R650I		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	650					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AGGGCTCTGAGAAAACAGGGA	0.522																																						dbGAP											0													60.0	60.0	60.0					17																	71197915		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1949G>T	17.37:g.71197915G>T	ENSP00000299886:p.Arg650Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.R650I	ENST00000299886.4	37	c.1949	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035590	0.35893	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25579	1.79;1.8	5.53	3.32	0.38043	.	0.097986	0.64402	D	0.000002	T	0.11281	0.0275	N	0.08118	0	0.44000	D	0.996703	P;P;P	0.39131	0.661;0.661;0.661	B;B;B	0.34991	0.193;0.193;0.193	T	0.14531	-1.0469	10	0.37606	T	0.19	-7.453	8.2545	0.31746	0.8334:0.0:0.1666:0.0	.	650;650;650	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	I	650	ENSP00000400111:R650I;ENSP00000299886:R650I	ENSP00000299886:R650I	R	+	2	0	COG1	68709510	1.000000	0.71417	0.886000	0.34754	0.943000	0.58893	2.800000	0.47900	0.435000	0.26365	0.650000	0.86243	AGA	COG1	-	NULL	ENSG00000166685		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	79	0.00	0	G			71197915	71197915	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.998	T
COG2	22796	genome.wustl.edu	37	1	230805208	230805208	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:230805208A>G	ENST00000366669.4	+	7	816	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	COG2_ENST00000534989.1_Missense_Mutation_p.Y175C|COG2_ENST00000366668.3_Missense_Mutation_p.Y234C|COG2_ENST00000535166.1_Missense_Mutation_p.Y118C	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	234					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGCGGACTTACGCCACGATT	0.498																																						dbGAP											0													114.0	96.0	102.0					1																	230805208		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.701A>G	1.37:g.230805208A>G	ENSP00000355629:p.Tyr234Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.Y234C	ENST00000366669.4	37	c.701	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777130	0.49786	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69194	-0.5209	10	0.72032	D	0.01	-13.7185	15.7036	0.77560	1.0:0.0:0.0:0.0	.	234;234	Q86U99;Q14746	.;COG2_HUMAN	C	234;118;234;175	ENSP00000355629:Y234C;ENSP00000445724:Y118C;ENSP00000355628:Y234C;ENSP00000440349:Y175C	ENSP00000355628:Y234C	Y	+	2	0	COG2	228871831	1.000000	0.71417	0.476000	0.27291	0.334000	0.28698	9.076000	0.94009	2.118000	0.64928	0.533000	0.62120	TAC	COG2	-	NULL	ENSG00000135775		0.498	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	297	0.00	0	A	NM_007357		230805208	230805208	+1	no_errors	ENST00000366669	ensembl	human	known	69_37n	missense	166	28.45	66	SNP	0.979	G
COG2	22796	genome.wustl.edu	37	1	230814793	230814793	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:230814793A>C	ENST00000366669.4	+	10	1276	c.1161A>C	c.(1159-1161)caA>caC	p.Q387H	COG2_ENST00000534989.1_Missense_Mutation_p.Q328H|COG2_ENST00000366668.3_Missense_Mutation_p.Q387H|COG2_ENST00000535166.1_Missense_Mutation_p.Q271H|COG2_ENST00000546013.1_Missense_Mutation_p.Q76H	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	387					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTTATTTTCAAATAAGGTTGG	0.468																																						dbGAP											0													117.0	114.0	115.0					1																	230814793		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1161A>C	1.37:g.230814793A>C	ENSP00000355629:p.Gln387His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.Q387H	ENST00000366669.4	37	c.1161	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121929	0.77436	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.58652	3.45;3.45;3.45;3.45;0.32	6.07	-0.457	0.12186	.	0.048623	0.85682	N	0.000000	T	0.74435	0.3716	M	0.90870	3.155	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.962	T	0.72354	-0.4319	10	0.87932	D	0	-16.7937	6.3884	0.21574	0.5245:0.1285:0.3469:0.0	.	387;387	Q86U99;Q14746	.;COG2_HUMAN	H	387;271;387;328;76	ENSP00000355629:Q387H;ENSP00000445724:Q271H;ENSP00000355628:Q387H;ENSP00000440349:Q328H;ENSP00000442147:Q76H	ENSP00000355628:Q387H	Q	+	3	2	COG2	228881416	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.531000	0.36018	-0.084000	0.12595	0.533000	0.62120	CAA	COG2	-	NULL	ENSG00000135775		0.468	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	494	0.00	0	A	NM_007357		230814793	230814793	+1	no_errors	ENST00000366669	ensembl	human	known	69_37n	missense	328	31.24	149	SNP	0.999	C
COG2	22796	genome.wustl.edu	37	1	230822810	230822810	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:230822810C>T	ENST00000366669.4	+	13	1625	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	COG2_ENST00000534989.1_Missense_Mutation_p.P445S|COG2_ENST00000366668.3_Missense_Mutation_p.P504S|COG2_ENST00000535166.1_Missense_Mutation_p.P388S|COG2_ENST00000546013.1_Missense_Mutation_p.P193S	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	504					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAAACAAAGCCTGTGGTTTC	0.498																																						dbGAP											0													100.0	81.0	87.0					1																	230822810		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1510C>T	1.37:g.230822810C>T	ENSP00000355629:p.Pro504Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U99	Missense_Mutation	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.P504S	ENST00000366669.4	37	c.1510	CCDS1584.1	1	.	.	.	.	.	.	.	.	.	.	C	0.655	-0.807937	0.02819	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.43294	2.0;2.0;2.02;2.01;0.95	5.05	0.64	0.17752	.	0.773261	0.12618	N	0.453298	T	0.12646	0.0307	N	0.02011	-0.69	0.21740	N	0.999561	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.31503	-0.9941	10	0.08599	T	0.76	-3.7384	3.8677	0.09024	0.1173:0.5062:0.2298:0.1468	.	504;504	Q86U99;Q14746	.;COG2_HUMAN	S	504;388;504;445;193	ENSP00000355629:P504S;ENSP00000445724:P388S;ENSP00000355628:P504S;ENSP00000440349:P445S;ENSP00000442147:P193S	ENSP00000355628:P504S	P	+	1	0	COG2	228889433	0.007000	0.16637	0.414000	0.26521	0.064000	0.16182	-0.450000	0.06803	0.491000	0.27793	0.655000	0.94253	CCT	COG2	-	NULL	ENSG00000135775		0.498	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	89	0.00	0	C	NM_007357		230822810	230822810	+1	no_errors	ENST00000366669	ensembl	human	known	69_37n	missense	79	30.70	35	SNP	0.547	T
COG3	83548	genome.wustl.edu	37	13	46083908	46083908	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46083908G>A	ENST00000349995.5	+	15	1788	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	559					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CCTACGGTTCGAAGAACTCTT	0.378																																					Ovarian(150;1048 1859 18083 21577 42700)	dbGAP											0													193.0	187.0	189.0					13																	46083908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1676G>A	13.37:g.46083908G>A	ENSP00000258654:p.Arg559Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	pfam_COG_su3,superfamily_Cullin_repeat-like_dom	p.R559Q	ENST00000349995.5	37	c.1676	CCDS9398.1	13	.	.	.	.	.	.	.	.	.	.	G	31	5.084646	0.94100	.	.	ENSG00000136152	ENST00000349995	T	0.44482	0.92	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.58925	1.835	0.80722	D	1	P;D	0.61080	0.849;0.989	B;P	0.45829	0.355;0.494	T	0.46331	-0.9199	10	0.46703	T	0.11	-8.3361	19.0006	0.92832	0.0:0.0:1.0:0.0	.	396;559	B4E2F3;Q96JB2	.;COG3_HUMAN	Q	559	ENSP00000258654:R559Q	ENSP00000258654:R559Q	R	+	2	0	COG3	44981909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.749000	0.94314	0.655000	0.94253	CGA	COG3	-	NULL	ENSG00000136152		0.378	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG3	HGNC	protein_coding	OTTHUMT00000044777.2	321	0.00	0	G			46083908	46083908	+1	no_errors	ENST00000349995	ensembl	human	known	69_37n	missense	154	37.90	94	SNP	1.000	A
COG5	10466	genome.wustl.edu	37	7	106888898	106888898	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:106888898G>T	ENST00000347053.3	-	16	1876	c.1826C>A	c.(1825-1827)tCt>tAt	p.S609Y	COG5_ENST00000393603.2_Missense_Mutation_p.S630Y|COG5_ENST00000297135.3_Missense_Mutation_p.S630Y	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	609					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCTCCCACAGAAGTGAGTAA	0.338																																						dbGAP											0													128.0	123.0	125.0					7																	106888898		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1826C>A	7.37:g.106888898G>T	ENSP00000334703:p.Ser609Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.S630Y	ENST00000347053.3	37	c.1889	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736437	0.89482	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.59502	0.26;0.26;0.26	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.968;0.986	T	0.82234	-0.0558	10	0.87932	D	0	-12.0363	19.7325	0.96188	0.0:0.0:1.0:0.0	.	609;630	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Y	609;630;630	ENSP00000334703:S609Y;ENSP00000297135:S630Y;ENSP00000377228:S630Y	ENSP00000297135:S630Y	S	-	2	0	COG5	106676134	1.000000	0.71417	0.935000	0.37517	0.966000	0.64601	8.364000	0.90105	2.763000	0.94921	0.563000	0.77884	TCT	COG5	-	NULL	ENSG00000164597		0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	247	0.00	0	G			106888898	106888898	-1	no_errors	ENST00000297135	ensembl	human	known	69_37n	missense	163	26.24	58	SNP	1.000	T
COL12A1	1303	genome.wustl.edu	37	6	75825601	75825601	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:75825601C>A	ENST00000322507.8	-	49	7905	c.7596G>T	c.(7594-7596)aaG>aaT	p.K2532N	COL12A1_ENST00000345356.6_Missense_Mutation_p.K1368N|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2532N|COL12A1_ENST00000416123.2_Missense_Mutation_p.K2532N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2532	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGCAAAATTCTTTTCTGTCA	0.353																																						dbGAP											0													95.0	92.0	93.0					6																	75825601		1889	4113	6002	-	-	-	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7596G>T	6.37:g.75825601C>A	ENSP00000325146:p.Lys2532Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.K2532N	ENST00000322507.8	37	c.7596	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782714	0.70222	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.02301	4.35;4.35;4.35;4.35;4.35;4.35	4.84	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.07548	0.0190	M	0.83384	2.64	0.44976	D	0.997993	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.931	T	0.00546	-1.1678	10	0.87932	D	0	.	11.4715	0.50272	0.0:0.9174:0.0:0.0826	.	1368;2532	Q99715-2;Q99715	.;COCA1_HUMAN	N	2532;170;2532;1368;2532;2532;86	ENSP00000325146:K2532N;ENSP00000399812:K170N;ENSP00000305147:K1368N;ENSP00000412864:K2532N;ENSP00000421216:K2532N;ENSP00000423423:K86N	ENSP00000325146:K2532N	K	-	3	2	COL12A1	75882321	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.385000	0.59613	2.214000	0.71695	0.655000	0.94253	AAG	COL12A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000111799		0.353	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	263	0.00	0	C	NM_004370		75825601	75825601	-1	no_errors	ENST00000322507	ensembl	human	known	69_37n	missense	150	12.28	21	SNP	1.000	A
COL13A1	1305	genome.wustl.edu	37	10	71682481	71682481	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:71682481T>G	ENST00000398978.3	+	22	1620	c.1128T>G	c.(1126-1128)gcT>gcG	p.A376A	COL13A1_ENST00000398964.3_Silent_p.A347A|COL13A1_ENST00000398968.3_Silent_p.A357A|COL13A1_ENST00000354547.3_Silent_p.A354A|COL13A1_ENST00000398973.3_Silent_p.A376A|COL13A1_ENST00000520267.1_Silent_p.A319A|COL13A1_ENST00000398974.3_Silent_p.A364A|COL13A1_ENST00000398966.3_Silent_p.A354A|COL13A1_ENST00000517713.1_Silent_p.A354A|COL13A1_ENST00000356340.3_Silent_p.A376A|COL13A1_ENST00000520133.1_Silent_p.A325A|COL13A1_ENST00000398971.3_Silent_p.A376A|COL13A1_ENST00000398972.3_Silent_p.A376A|COL13A1_ENST00000522165.1_Silent_p.A357A|COL13A1_ENST00000357811.3_Silent_p.A354A|COL13A1_ENST00000398969.3_Silent_p.A319A	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AAGGCGATGCTGGCAACTCCA	0.627																																						dbGAP											0													29.0	35.0	33.0					10																	71682481		1921	4123	6044	-	-	-	SO:0001819	synonymous_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1128T>G	10.37:g.71682481T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Collagen	p.A376	ENST00000398978.3	37	c.1128	CCDS44419.1	10																																																																																			COL13A1	-	pfam_Collagen	ENSG00000197467		0.627	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	78	0.00	0	T	NM_005203		71682481	71682481	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	silent	33	28.26	13	SNP	0.966	G
COL14A1	7373	genome.wustl.edu	37	8	121210134	121210134	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:121210134G>A	ENST00000297848.3	+	7	947	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R226Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.R226Q|COL14A1_ENST00000247781.3_Intron	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAAGCTGTCCGAAACCTCCCA	0.348																																						dbGAP											0													104.0	100.0	101.0					8																	121210134		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.677G>A	8.37:g.121210134G>A	ENSP00000297848:p.Arg226Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R226Q	ENST00000297848.3	37	c.677	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371776	0.61624	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000434620	T;T;T;T	0.78595	-1.19;-1.19;-1.19;0.51	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.121167	0.53938	D	0.000060	D	0.84279	0.5437	L	0.54908	1.71	0.37206	D	0.904602	D	0.71674	0.998	P	0.60682	0.878	D	0.84567	0.0653	10	0.38643	T	0.18	.	19.2662	0.93985	0.0:0.0:1.0:0.0	.	226	Q05707	COEA1_HUMAN	Q	226;226;226;39	ENSP00000443974:R226Q;ENSP00000311809:R226Q;ENSP00000297848:R226Q;ENSP00000409461:R39Q	ENSP00000297848:R226Q	R	+	2	0	COL14A1	121279315	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.924000	0.63418	2.789000	0.95967	0.591000	0.81541	CGA	COL14A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000187955		0.348	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	202	0.00	0	G	NM_021110		121210134	121210134	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	92	24.39	30	SNP	0.999	A
COL14A1	7373	genome.wustl.edu	37	8	121222013	121222013	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:121222013C>A	ENST00000297848.3	+	12	1610	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	COL14A1_ENST00000309791.4_Missense_Mutation_p.S447Y|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.S447Y|COL14A1_ENST00000247781.3_Missense_Mutation_p.S352Y	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGATGGCTTCTGACCTTCTA	0.408																																						dbGAP											0													102.0	97.0	98.0					8																	121222013		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1340C>A	8.37:g.121222013C>A	ENSP00000297848:p.Ser447Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S447Y	ENST00000297848.3	37	c.1340	CCDS34938.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.18|14.18	2.459627|2.459627	0.43736|0.43736	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;T	.|0.04917	.|3.53;3.53;3.53;3.53;3.53	5.31|5.31	4.43|4.43	0.53597|0.53597	.|Fibronectin, type III (3);	.|0.288676	.|0.34676	.|N	.|0.003780	T|T	0.17023|0.17023	0.0409|0.0409	M|M	0.77313|0.77313	2.365|2.365	0.40060|0.40060	D|D	0.975888|0.975888	.|D;P	.|0.53151	.|0.958;0.822	.|P;P	.|0.50136	.|0.632;0.58	T|T	0.03576|0.03576	-1.1023|-1.1023	5|10	.|0.51188	.|T	.|0.08	.|.	15.4182|15.4182	0.74987|0.74987	0.14:0.86:0.0:0.0|0.14:0.86:0.0:0.0	.|.	.|447;447	.|Q05707-2;Q05707	.|.;COEA1_HUMAN	L|Y	203|447;447;447;352;260	.|ENSP00000443974:S447Y;ENSP00000311809:S447Y;ENSP00000297848:S447Y;ENSP00000247781:S352Y;ENSP00000409461:S260Y	.|ENSP00000247781:S352Y	F|S	+|+	3|2	2|0	COL14A1|COL14A1	121291194|121291194	0.832000|0.832000	0.29368|0.29368	0.639000|0.639000	0.29394|0.29394	0.232000|0.232000	0.25224|0.25224	1.547000|1.547000	0.36190|0.36190	1.437000|1.437000	0.47472|0.47472	0.650000|0.650000	0.86243|0.86243	TTC|TCT	COL14A1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	175	0.00	0	C	NM_021110		121222013	121222013	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	84	32.26	40	SNP	0.880	A
COL14A1	7373	genome.wustl.edu	37	8	121228689	121228689	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:121228689G>A	ENST00000297848.3	+	14	1967	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	COL14A1_ENST00000309791.4_Missense_Mutation_p.R566Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R471Q	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGGTTATCGAATTGTATAT	0.403																																						dbGAP											0													123.0	114.0	117.0					8																	121228689		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1697G>A	8.37:g.121228689G>A	ENSP00000297848:p.Arg566Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R566Q	ENST00000297848.3	37	c.1697	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188495	0.21954	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.29	4.35	0.52113	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058532	0.64402	D	0.000002	T	0.59622	0.2207	L	0.39633	1.23	0.80722	D	1	P;D	0.76494	0.82;0.999	B;P	0.58172	0.073;0.834	T	0.61058	-0.7139	10	0.52906	T	0.07	.	16.5745	0.84633	0.0:0.0:0.8612:0.1388	.	566;566	Q05707-2;Q05707	.;COEA1_HUMAN	Q	566;566;471;379	ENSP00000311809:R566Q;ENSP00000297848:R566Q;ENSP00000247781:R471Q;ENSP00000409461:R379Q	ENSP00000247781:R471Q	R	+	2	0	COL14A1	121297870	1.000000	0.71417	0.998000	0.56505	0.031000	0.12232	5.400000	0.66320	2.752000	0.94435	0.655000	0.94253	CGA	COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.403	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	226	0.00	0	G	NM_021110		121228689	121228689	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	169	11.98	23	SNP	1.000	A
COL14A1	7373	genome.wustl.edu	37	8	121256156	121256156	+	Missense_Mutation	SNP	G	G	T	rs143139213	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:121256156G>T	ENST00000297848.3	+	20	2658	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	COL14A1_ENST00000309791.4_Missense_Mutation_p.K796N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.K701N	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCTTCTGAAGCCTCTGCTTC	0.488																																						dbGAP											0													192.0	187.0	189.0					8																	121256156		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2388G>T	8.37:g.121256156G>T	ENSP00000297848:p.Lys796Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.K796N	ENST00000297848.3	37	c.2388	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398511	0.42512	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.79	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.169008	0.52532	D	0.000064	T	0.42854	0.1221	L	0.43152	1.355	0.80722	D	1	P;P	0.38767	0.646;0.642	B;B	0.34536	0.122;0.185	T	0.38499	-0.9658	10	0.44086	T	0.13	.	12.1171	0.53872	0.0665:0.1206:0.8129:0.0	.	796;796	Q05707-2;Q05707	.;COEA1_HUMAN	N	796;796;701;609	ENSP00000311809:K796N;ENSP00000297848:K796N;ENSP00000247781:K701N;ENSP00000409461:K609N	ENSP00000247781:K701N	K	+	3	2	COL14A1	121325337	0.993000	0.37304	0.865000	0.33974	0.550000	0.35303	2.101000	0.41787	1.421000	0.47157	0.655000	0.94253	AAG	COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.488	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	242	0.00	0	G	NM_021110		121256156	121256156	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	149	13.87	24	SNP	0.995	T
COL14A1	7373	genome.wustl.edu	37	8	121290694	121290694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:121290694C>T	ENST00000297848.3	+	28	3628	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R1120*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R1025*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGTATGTTCGAGATACCTT	0.398																																						dbGAP											0													88.0	80.0	83.0					8																	121290694		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3358C>T	8.37:g.121290694C>T	ENSP00000297848:p.Arg1120*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R1120*	ENST00000297848.3	37	c.3358	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	43	9.881912	0.99286	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.4	5.4	0.78164	.	0.057304	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.894	0.79322	0.1358:0.8642:0.0:0.0	.	.	.	.	X	1120;1120;1025	.	ENSP00000247781:R1025X	R	+	1	2	COL14A1	121359875	0.992000	0.36948	1.000000	0.80357	0.902000	0.53008	2.592000	0.46171	2.692000	0.91855	0.650000	0.86243	CGA	COL14A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000187955		0.398	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	280	0.00	0	C	NM_021110		121290694	121290694	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	nonsense	178	11.00	22	SNP	0.998	T
COL1A1	1277	genome.wustl.edu	37	17	48267911	48267911	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:48267911C>T	ENST00000225964.5	-	34	2508	c.2390G>A	c.(2389-2391)gGt>gAt	p.G797D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	797	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TACGGGGGCACCACGAGCTCC	0.612			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															dbGAP		Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													98.0	114.0	109.0					17																	48267911		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2390G>A	17.37:g.48267911C>T	ENSP00000225964:p.Gly797Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G797D	ENST00000225964.5	37	c.2390	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342651	0.61073	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.98238	4.18	0.80722	D	1	B	0.20164	0.042	B	0.30855	0.121	D	0.99901	1.1163	10	0.87932	D	0	.	16.6036	0.84822	0.0:1.0:0.0:0.0	.	797	P02452	CO1A1_HUMAN	D	797	ENSP00000225964:G797D	ENSP00000225964:G797D	G	-	2	0	COL1A1	45622910	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.954000	0.70298	2.206000	0.71126	0.462000	0.41574	GGT	COL1A1	-	pfam_Collagen	ENSG00000108821		0.612	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	138	0.00	0	C			48267911	48267911	-1	no_errors	ENST00000225964	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	1.000	T
COL1A2	1278	genome.wustl.edu	37	7	94040216	94040216	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:94040216C>T	ENST00000297268.6	+	22	1684	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	405					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGTTCTCGTGGTCTTCC	0.448										HNSCC(75;0.22)																												dbGAP											0													152.0	150.0	150.0					7																	94040216		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1213C>T	7.37:g.94040216C>T	ENSP00000297268:p.Arg405Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.R405C	ENST00000297268.6	37	c.1213	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367345	0.82463	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96168	-3.93	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.98213	0.9409	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98376	1.0556	10	0.87932	D	0	.	20.5276	0.99231	0.0:1.0:0.0:0.0	.	405	P08123	CO1A2_HUMAN	C	405;406	ENSP00000297268:R405C	ENSP00000297268:R405C	R	+	1	0	COL1A2	93878152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CGT	COL1A2	-	NULL	ENSG00000164692		0.448	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	334	0.00	0	C	NM_000089		94040216	94040216	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	missense	239	15.25	43	SNP	1.000	T
COL20A1	57642	genome.wustl.edu	37	20	61959800	61959800	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:61959800C>T	ENST00000358894.6	+	34	3831	c.3731C>T	c.(3730-3732)gCc>gTc	p.A1244V	COL20A1_ENST00000422202.1_Missense_Mutation_p.A1257V|COL20A1_ENST00000326996.6_Missense_Mutation_p.A1276V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A1257V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1244					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGCAGCAAGGCCCTGGTTCCT	0.692																																						dbGAP											0													19.0	23.0	22.0					20																	61959800		1927	4114	6041	-	-	-	SO:0001583	missense	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3731C>T	20.37:g.61959800C>T	ENSP00000351767:p.Ala1244Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.A1276V	ENST00000358894.6	37	c.3827	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947729	0.34377	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.91996	-2.17;-2.22;-2.25;-2.25;-2.95;-2.81	3.23	1.02	0.19986	.	0.314890	0.25954	U	0.027225	T	0.81555	0.4847	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.12156	0.007;0.003	T	0.65051	-0.6262	10	0.29301	T	0.29	.	2.851	0.05558	0.2767:0.565:0.0:0.1582	.	1257;1244	Q9P218-2;Q9P218	.;COKA1_HUMAN	V	1244;1276;1257;1257;385;240	ENSP00000351767:A1244V;ENSP00000323077:A1276V;ENSP00000408690:A1257V;ENSP00000414753:A1257V;ENSP00000410799:A385V;ENSP00000406345:A240V	ENSP00000323077:A1276V	A	+	2	0	COL20A1	61430244	0.002000	0.14202	0.040000	0.18447	0.042000	0.13812	-0.045000	0.12003	1.527000	0.49086	0.313000	0.20887	GCC	COL20A1	-	NULL	ENSG00000101203		0.692	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	20	0.00	0	C	NM_020882		61959800	61959800	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.008	T
COL24A1	255631	genome.wustl.edu	37	1	86210420	86210420	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:86210420G>T	ENST00000370571.2	-	57	4967	c.4601C>A	c.(4600-4602)cCt>cAt	p.P1534H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1534	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGTGCCAAGAGGATTCTTGAT	0.388																																						dbGAP											0													196.0	181.0	186.0					1																	86210420		1875	4106	5981	-	-	-	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4601C>A	1.37:g.86210420G>T	ENSP00000359603:p.Pro1534His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.P1534H	ENST00000370571.2	37	c.4601	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673737	0.67928	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.89617	-2.54;-2.54	5.49	5.49	0.81192	Fibrillar collagen, C-terminal (3);	0.000000	0.35838	N	0.002947	D	0.96528	0.8867	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97226	0.9881	10	0.87932	D	0	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	1534;1513	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1534;1513	ENSP00000359603:P1534H;ENSP00000392531:P1513H	ENSP00000359603:P1534H	P	-	2	0	COL24A1	85983008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.740000	0.93945	0.563000	0.77884	CCT	COL24A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000171502		0.388	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	344	0.00	0	G	NM_152890		86210420	86210420	-1	no_errors	ENST00000370571	ensembl	human	known	69_37n	missense	238	16.49	47	SNP	1.000	T
COL25A1	84570	genome.wustl.edu	37	4	109817828	109817828	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:109817828C>T	ENST00000399132.1	-	16	1431	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	COL25A1_ENST00000399126.1_Missense_Mutation_p.E301K|COL25A1_ENST00000399127.1_Missense_Mutation_p.E297K	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TGTACCTTTTCGCCTGTGTCA	0.423																																						dbGAP											0													127.0	122.0	124.0					4																	109817828		1892	4113	6005	-	-	-	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.901G>A	4.37:g.109817828C>T	ENSP00000382083:p.Glu301Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Collagen	p.E301K	ENST00000399132.1	37	c.901	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	9.389	1.074938	0.20227	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	T;T;T	0.15603	2.41;2.41;2.41	5.47	4.53	0.55603	.	0.314820	0.30437	N	0.009631	T	0.25717	0.0626	L	0.51422	1.61	0.29780	N	0.834067	D;B	0.65815	0.995;0.002	P;B	0.53593	0.73;0.001	T	0.06844	-1.0804	9	.	.	.	-8.7071	11.2213	0.48857	0.0:0.9068:0.0:0.0932	.	301;301	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	K	301;303;297;297;301;231	ENSP00000382083:E301K;ENSP00000382078:E297K;ENSP00000382077:E301K	.	E	-	1	0	COL25A1	110037277	0.991000	0.36638	0.895000	0.35142	0.218000	0.24690	2.131000	0.42074	1.278000	0.44430	0.655000	0.94253	GAA	COL25A1	-	NULL	ENSG00000188517		0.423	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	445	0.00	0	C	NM_032518		109817828	109817828	-1	no_errors	ENST00000399132	ensembl	human	known	69_37n	missense	247	12.41	35	SNP	0.970	T
COL27A1	85301	genome.wustl.edu	37	9	117053181	117053181	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:117053181G>T	ENST00000356083.3	+	48	4851	c.4460G>T	c.(4459-4461)gGa>gTa	p.G1487V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1487	Collagen-like 14.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCACAGGGACCCCCAGGA	0.587											OREG0019416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													42.0	41.0	41.0					9																	117053181		2065	4076	6141	-	-	-	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4460G>T	9.37:g.117053181G>T	ENSP00000348385:p.Gly1487Val	Somatic	1478	WXS	Illumina GAIIx	Phase_IV	Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G1487V	ENST00000356083.3	37	c.4460	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232244	0.79688	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99637	-6.29	5.69	5.69	0.88448	.	.	.	.	.	D	0.99813	0.9918	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96950	0.9694	9	0.87932	D	0	.	17.3069	0.87197	0.0:0.0:1.0:0.0	.	1487	Q8IZC6	CORA1_HUMAN	V	1487	ENSP00000348385:G1487V	ENSP00000348385:G1487V	G	+	2	0	COL27A1	116093002	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.097000	0.76967	2.682000	0.91365	0.585000	0.79938	GGA	COL27A1	-	NULL	ENSG00000196739		0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	60	0.00	0	G	NM_032888		117053181	117053181	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	T
COL2A1	1280	genome.wustl.edu	37	12	48383016	48383016	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:48383016C>T	ENST00000380518.3	-	18	1281	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	COL2A1_ENST00000493991.1_5'Flank|COL2A1_ENST00000337299.6_Missense_Mutation_p.A304T	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	373	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CGTACCTTGGCTCCAGGAGCA	0.592																																						dbGAP											0													101.0	93.0	96.0					12																	48383016		2203	4299	6502	-	-	-	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1117G>A	12.37:g.48383016C>T	ENSP00000369889:p.Ala373Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A373T	ENST00000380518.3	37	c.1117	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504248	0.44558	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93426	-3.22;-3.22	3.63	3.63	0.41609	.	0.069593	0.64402	D	0.000018	D	0.88108	0.6348	L	0.40543	1.245	0.39648	D	0.970421	B;B	0.06786	0.0;0.001	B;B	0.12156	0.004;0.007	T	0.83225	-0.0066	10	0.22109	T	0.4	.	10.5824	0.45263	0.1932:0.8068:0.0:0.0	.	304;373	P02458-1;P02458	.;CO2A1_HUMAN	T	373;304;304	ENSP00000369889:A373T;ENSP00000338213:A304T	ENSP00000338213:A304T	A	-	1	0	COL2A1	46669283	0.539000	0.26402	1.000000	0.80357	0.980000	0.70556	1.409000	0.34680	2.348000	0.79779	0.655000	0.94253	GCC	COL2A1	-	NULL	ENSG00000139219		0.592	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	202	0.00	0	C	NM_001844		48383016	48383016	-1	no_errors	ENST00000380518	ensembl	human	known	69_37n	missense	184	11.11	23	SNP	1.000	T
COL3A1	1281	genome.wustl.edu	37	2	189868784	189868784	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:189868784C>A	ENST00000304636.3	+	39	2908	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	913	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AACACTGGTGCTCCTGGCAGC	0.572																																						dbGAP											0													27.0	31.0	30.0					2																	189868784		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2738C>A	2.37:g.189868784C>A	ENSP00000304408:p.Ala913Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A913D	ENST00000304636.3	37	c.2738	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458229	0.63401	.	.	ENSG00000168542	ENST00000304636	D	0.93659	-3.26	5.5	4.62	0.57501	.	0.898538	0.09407	N	0.806341	D	0.88239	0.6383	N	0.17594	0.5	0.80722	D	1	B	0.24258	0.1	B	0.20577	0.03	T	0.77156	-0.2691	10	0.22706	T	0.39	.	16.3079	0.82855	0.0:0.8675:0.1325:0.0	.	913	P02461	CO3A1_HUMAN	D	913	ENSP00000304408:A913D	ENSP00000304408:A913D	A	+	2	0	COL3A1	189577029	0.003000	0.15002	0.604000	0.28916	0.804000	0.45430	2.033000	0.41136	1.298000	0.44778	0.551000	0.68910	GCT	COL3A1	-	NULL	ENSG00000168542		0.572	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	64	0.00	0	C	NM_000090		189868784	189868784	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	0.966	A
COL4A1	1282	genome.wustl.edu	37	13	110814644	110814644	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:110814644T>G	ENST00000375820.4	-	48	4516	c.4395A>C	c.(4393-4395)aaA>aaC	p.K1465N	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1465	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGTAAAGAATTTTGGTCCCAG	0.527																																						dbGAP											0													252.0	246.0	248.0					13																	110814644		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4395A>C	13.37:g.110814644T>G	ENSP00000364979:p.Lys1465Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.K1465N	ENST00000375820.4	37	c.4395	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618127	0.28801	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.94457	-3.43	4.83	-2.49	0.06403	C-type lectin fold (1);	0.358097	0.28156	N	0.016394	T	0.79251	0.4414	N	0.02539	-0.55	0.31765	N	0.632868	P	0.43885	0.82	B	0.38954	0.286	T	0.81502	-0.0904	10	0.15066	T	0.55	.	7.9549	0.30035	0.1199:0.526:0.0:0.3541	.	1465	P02462	CO4A1_HUMAN	N	1108;1465;1114	ENSP00000364979:K1465N	ENSP00000364973:K1108N	K	-	3	2	COL4A1	109612645	0.001000	0.12720	0.957000	0.39632	0.493000	0.33554	-1.487000	0.02310	-0.368000	0.08040	-0.366000	0.07423	AAA	COL4A1	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000187498		0.527	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	495	0.00	0	T			110814644	110814644	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	197	36.04	111	SNP	0.049	G
COL4A1	1282	genome.wustl.edu	37	13	110829238	110829238	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:110829238C>T	ENST00000375820.4	-	34	2984	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	955	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTGCCTTTCTCTCCTTGGTCT	0.527																																						dbGAP											0													134.0	118.0	123.0					13																	110829238		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2863G>A	13.37:g.110829238C>T	ENSP00000364979:p.Glu955Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.E955K	ENST00000375820.4	37	c.2863	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141259	0.57044	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.93189	-3.18	5.56	5.56	0.83823	.	0.330266	0.31246	N	0.008000	D	0.94172	0.8130	L	0.39514	1.22	0.80722	D	1	D	0.63046	0.992	P	0.62298	0.9	D	0.91056	0.4882	10	0.14656	T	0.56	.	19.8898	0.96926	0.0:1.0:0.0:0.0	.	955	P02462	CO4A1_HUMAN	K	598;955;604	ENSP00000364979:E955K	ENSP00000364973:E598K	E	-	1	0	COL4A1	109627239	1.000000	0.71417	0.908000	0.35775	0.031000	0.12232	4.269000	0.58890	2.775000	0.95449	0.655000	0.94253	GAG	COL4A1	-	pfam_Collagen	ENSG00000187498		0.527	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	222	0.00	0	C			110829238	110829238	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	98	21.60	27	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111141854	111141854	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:111141854C>T	ENST00000360467.5	+	35	3576	c.3270C>T	c.(3268-3270)ttC>ttT	p.F1090F		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1090	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.F1090F(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGGTGATTTCGGTGAGTGTT	0.507																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											106.0	110.0	109.0					13																	111141854		2029	4175	6204	-	-	-	SO:0001630	splice_region_variant	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3271+1C>T	13.37:g.111141854C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.F1090	ENST00000360467.5	37	c.3270	CCDS41907.1	13																																																																																			COL4A2	-	NULL	ENSG00000134871		0.507	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	159	0.00	0	C	NM_001846	Silent	111141854	111141854	+1	no_errors	ENST00000360467	ensembl	human	known	69_37n	silent	116	17.73	25	SNP	0.000	T
COL4A3	1285	genome.wustl.edu	37	2	228131147	228131147	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:228131147C>T	ENST00000396578.3	+	22	1492	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	444	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CATCGTTTTTCGCAAGGGTCC	0.383																																						dbGAP											0													76.0	70.0	72.0					2																	228131147		1831	4087	5918	-	-	-	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1330C>T	2.37:g.228131147C>T	ENSP00000379823:p.Arg444Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R444C	ENST00000396578.3	37	c.1330	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990811	0.54041	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97016	-4.21	5.45	3.64	0.41730	.	1.051200	0.07530	N	0.912127	D	0.97673	0.9237	M	0.77820	2.39	0.20196	N	0.999922	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76071	0.985;0.985;0.978;0.987	D	0.88861	0.3326	10	0.54805	T	0.06	.	6.8103	0.23801	0.1743:0.736:0.0:0.0897	.	444;444;444;444	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	C	444	ENSP00000379823:R444C	ENSP00000323334:R444C	R	+	1	0	COL4A3	227839391	0.000000	0.05858	0.002000	0.10522	0.188000	0.23474	-0.088000	0.11198	0.662000	0.31006	0.655000	0.94253	CGC	COL4A3	-	pfam_Collagen	ENSG00000169031		0.383	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	165	0.00	0	C	NM_000091		228131147	228131147	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	missense	74	31.48	34	SNP	0.058	T
COL4A3	1285	genome.wustl.edu	37	2	228162503	228162503	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:228162503C>T	ENST00000396578.3	+	42	3841	c.3679C>T	c.(3679-3681)Cca>Tca	p.P1227S	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1227	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCCAGGGCCACCAGGTCTGCC	0.577																																						dbGAP											0													21.0	24.0	23.0					2																	228162503		1874	4115	5989	-	-	-	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3679C>T	2.37:g.228162503C>T	ENSP00000379823:p.Pro1227Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1227S	ENST00000396578.3	37	c.3679	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211759	0.39102	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.97665	-4.48	5.54	5.54	0.83059	.	0.108734	0.41712	D	0.000832	D	0.96614	0.8895	L	0.53780	1.695	0.39352	D	0.965764	P;P;P;P	0.51537	0.94;0.873;0.946;0.889	P;P;P;P	0.53450	0.726;0.543;0.637;0.557	D	0.95801	0.8833	10	0.38643	T	0.18	.	12.0433	0.53464	0.0:0.9207:0.0:0.0793	.	1227;1227;1227;1227	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	S	1227	ENSP00000379823:P1227S	ENSP00000323334:P1227S	P	+	1	0	COL4A3	227870747	0.997000	0.39634	1.000000	0.80357	0.294000	0.27393	4.037000	0.57311	2.618000	0.88619	0.462000	0.41574	CCA	COL4A3	-	pfam_Collagen	ENSG00000169031		0.577	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	88	0.00	0	C	NM_000091		228162503	228162503	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	0.998	T
COL4A3BP	10087	genome.wustl.edu	37	5	74677016	74677016	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:74677016C>T	ENST00000405807.4	-	16	2049	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.R671Q|COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R517Q	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	543	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACGGACACATCGGTTGTTTAG	0.383																																						dbGAP											0													145.0	132.0	136.0					5																	74677016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1628G>A	5.37:g.74677016C>T	ENSP00000383996:p.Arg543Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.R671Q	ENST00000405807.4	37	c.2012	CCDS4028.1	5	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846236	0.91277	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	D;D;D	0.83591	-1.74;-1.74;-1.74	5.91	5.91	0.95273	Lipid-binding START (3);START-like domain (1);	0.064020	0.64402	N	0.000005	T	0.80336	0.4604	L	0.50333	1.59	0.54753	D	0.999981	D;D;D	0.61697	0.969;0.99;0.961	B;B;B	0.39217	0.278;0.294;0.182	T	0.82820	-0.0268	10	0.59425	D	0.04	-29.0422	20.3058	0.98631	0.0:1.0:0.0:0.0	.	543;671;517	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Q	148;543;671;517	ENSP00000383996:R543Q;ENSP00000369862:R671Q;ENSP00000261415:R517Q	ENSP00000261415:R517Q	R	-	2	0	COL4A3BP	74712772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.759000	0.85235	2.789000	0.95967	0.643000	0.83706	CGA	COL4A3BP	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000113163		0.383	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	106	0.00	0	C	NM_005713		74677016	74677016	-1	no_errors	ENST00000380494	ensembl	human	known	69_37n	missense	99	25.93	35	SNP	1.000	T
COL4A6	1288	genome.wustl.edu	37	X	107433721	107433721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107433721C>A	ENST00000372216.4	-	20	1430	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	COL4A6_ENST00000394872.2_Nonsense_Mutation_p.E444*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.E443*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.E443*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.E443*	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	444	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCTCAAATTCTGGACCTTTG	0.448									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													87.0	80.0	82.0					X																	107433721		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1330G>T	X.37:g.107433721C>A	ENSP00000361290:p.Glu444*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.E444*	ENST00000372216.4	37	c.1330	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.651837	0.96714	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	.	.	.	5.3	-3.98	0.04082	.	1.264190	0.05739	N	0.601119	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	2.8428	0.05534	0.4906:0.2588:0.1035:0.1472	.	.	.	.	X	444;443;444;443;443;443	.	ENSP00000334733:E443X	E	-	1	0	COL4A6	107320377	0.000000	0.05858	0.008000	0.14137	0.152000	0.21847	-1.294000	0.02767	-1.155000	0.02822	0.600000	0.82982	GAA	COL4A6	-	NULL	ENSG00000197565		0.448	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	262	0.00	0	C			107433721	107433721	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	nonsense	185	13.95	30	SNP	0.030	A
COL4A5	1287	genome.wustl.edu	37	X	107929281	107929281	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107929281G>A	ENST00000361603.2	+	46	4463	c.4219G>A	c.(4219-4221)Gat>Aat	p.D1407N	COL4A5_ENST00000328300.6_Missense_Mutation_p.D1413N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1407	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCTCCAGGAGATCCTGGACG	0.498									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0													64.0	54.0	57.0					X																	107929281		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4219G>A	X.37:g.107929281G>A	ENSP00000354505:p.Asp1407Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.D1413N	ENST00000361603.2	37	c.4237	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059980	0.55325	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93426	-3.22;-3.22	5.14	5.14	0.70334	.	0.234859	0.41396	N	0.000895	D	0.89846	0.6833	L	0.39633	1.23	0.53005	D	0.999969	P;P	0.40931	0.733;0.733	B;B	0.38985	0.287;0.287	D	0.88192	0.2878	10	0.15952	T	0.53	.	18.0047	0.89207	0.0:0.0:1.0:0.0	.	1410;1407	E7EVY4;P29400	.;CO4A5_HUMAN	N	1413;1407;1413	ENSP00000331902:D1413N;ENSP00000354505:D1407N	ENSP00000331902:D1413N	D	+	1	0	COL4A5	107815937	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.339000	0.65953	2.273000	0.75805	0.600000	0.82982	GAT	COL4A5	-	pfam_Collagen	ENSG00000188153		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	205	0.00	0	G			107929281	107929281	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	missense	116	35.71	65	SNP	1.000	A
COL5A3	50509	genome.wustl.edu	37	19	10071216	10071216	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:10071216C>T	ENST00000264828.3	-	67	5194	c.5109G>A	c.(5107-5109)acG>acA	p.T1703T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1703	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAAGGGTCTTCGTCTGTCCTT	0.577																																						dbGAP											0													94.0	103.0	100.0					19																	10071216		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.5109G>A	19.37:g.10071216C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.T1703	ENST00000264828.3	37	c.5109	CCDS12222.1	19																																																																																			COL5A3	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000080573		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	354	0.56	2	C	NM_015719		10071216	10071216	-1	no_errors	ENST00000264828	ensembl	human	known	69_37n	silent	286	14.11	47	SNP	0.957	T
COL6A5	256076	genome.wustl.edu	37	3	130113988	130113988	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130113988G>T	ENST00000432398.2	+	8	3742	c.3248G>T	c.(3247-3249)aGa>aTa	p.R1083I	COL6A5_ENST00000265379.6_Missense_Mutation_p.R1083I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1083	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGATTTCCAAGAATTGACTTT	0.403																																						dbGAP											0													115.0	102.0	106.0					3																	130113988		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3248G>T	3.37:g.130113988G>T	ENSP00000390895:p.Arg1083Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1083I	ENST00000432398.2	37	c.3248		3	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146860	0.37923	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83506	-1.73;-1.73	5.41	-1.3	0.09259	.	.	.	.	.	T	0.74898	0.3777	L	0.59436	1.845	0.09310	N	1	B	0.33583	0.418	B	0.34536	0.185	T	0.60414	-0.7268	9	0.25751	T	0.34	.	5.2523	0.15529	0.548:0.1641:0.2879:0.0	.	1083	A8TX70-2	.	I	1083	ENSP00000390895:R1083I;ENSP00000265379:R1083I	ENSP00000265379:R1083I	R	+	2	0	COL6A5	131596678	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.082000	0.14847	0.030000	0.15379	0.491000	0.48974	AGA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		227	0.00	0	G	NM_153264		130113988	130113988	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	168	15.92	32	SNP	0.000	T
COL6A5	256076	genome.wustl.edu	37	3	130116534	130116534	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130116534G>A	ENST00000432398.2	+	9	4170	c.3676G>A	c.(3676-3678)Gaa>Aaa	p.E1226K	COL6A5_ENST00000265379.6_Missense_Mutation_p.E1226K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1226	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGGCATCTTAGAAGACATCAG	0.552																																						dbGAP											0													64.0	60.0	61.0					3																	130116534		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3676G>A	3.37:g.130116534G>A	ENSP00000390895:p.Glu1226Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E1226K	ENST00000432398.2	37	c.3676		3	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998514	0.35226	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.37752	1.18;1.18	5.15	2.12	0.27331	.	.	.	.	.	T	0.26666	0.0652	L	0.51422	1.61	0.20307	N	0.999911	B	0.17038	0.02	B	0.18561	0.022	T	0.28650	-1.0037	9	0.15952	T	0.53	.	4.298	0.10911	0.2554:0.3379:0.4066:0.0	.	1226	A8TX70-2	.	K	1226	ENSP00000390895:E1226K;ENSP00000265379:E1226K	ENSP00000265379:E1226K	E	+	1	0	COL6A5	131599224	0.662000	0.27439	0.996000	0.52242	0.946000	0.59487	0.429000	0.21412	0.527000	0.28560	0.561000	0.74099	GAA	COL6A5	-	NULL	ENSG00000172752		0.552	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		288	0.00	0	G	NM_153264		130116534	130116534	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	205	13.14	31	SNP	0.808	A
COL6A5	256076	genome.wustl.edu	37	3	130174354	130174354	+	Nonsense_Mutation	SNP	G	G	T	rs555396988	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130174354G>T	ENST00000432398.2	+	37	7128	c.6634G>T	c.(6634-6636)Gaa>Taa	p.E2212*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.E2212*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2212	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E2212*(1)|p.E251*(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATTGGCCAAGAATTAAATTC	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		14426	0.0		0.0	False		,,,				2504	0.002					dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											45.0	44.0	44.0					3																	130174354		1809	4066	5875	-	-	-	SO:0001587	stop_gained	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6634G>T	3.37:g.130174354G>T	ENSP00000390895:p.Glu2212*	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E2212*	ENST00000432398.2	37	c.6634		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.354501|15.354501	0.99831|0.99831	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	.|.	.|.	.|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.385199|.	0.18687|.	N|.	0.133967|.	.|T	.|0.62183	.|0.2407	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69442	.|-0.5144	.|3	0.22109|.	T|.	0.4|.	.|.	12.6109|12.6109	0.56549|0.56549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2212;2212;155;47|463	.|.	ENSP00000265379:E2212X|.	E|R	+|+	1|2	0|0	COL6A5|COL6A5	131657044|131657044	0.842000|0.842000	0.29525|0.29525	0.143000|0.143000	0.22291|0.22291	0.014000|0.014000	0.08584|0.08584	2.707000|2.707000	0.47143|0.47143	2.423000|2.423000	0.82170|0.82170	0.650000|0.650000	0.86243|0.86243	GAA|AGA	COL6A5	-	NULL	ENSG00000172752		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		121	0.00	0	G	NM_153264		130174354	130174354	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	nonsense	69	25.26	24	SNP	0.167	T
COL6A5	256076	genome.wustl.edu	37	3	130188205	130188205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130188205G>T	ENST00000432398.2	+	38	7851	c.7357G>T	c.(7357-7359)Gaa>Taa	p.E2453*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.E2453*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2453	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAATGACAAAGAATTAGAAGA	0.438																																						dbGAP											0													60.0	52.0	54.0					3																	130188205		1889	4117	6006	-	-	-	SO:0001587	stop_gained	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7357G>T	3.37:g.130188205G>T	ENSP00000390895:p.Glu2453*	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.E2453*	ENST00000432398.2	37	c.7357		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.899383|15.899383	0.99848|0.99848	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.50627|.	D|.	0.000116|.	.|T	.|0.72447	.|0.3461	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73748	.|-0.3885	.|3	0.72032|.	D|.	0.01|.	.|.	17.0591|17.0591	0.86542|0.86542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2453;2453;396;288|704	.|.	ENSP00000265379:E2453X|.	E|R	+|+	1|2	0|0	COL6A5|COL6A5	131670895|131670895	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.146000|0.146000	0.21551|0.21551	3.191000|3.191000	0.50981|0.50981	2.318000|2.318000	0.78349|0.78349	0.563000|0.563000	0.77884|0.77884	GAA|AGA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		691	0.00	0	G	NM_153264		130188205	130188205	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	nonsense	350	14.00	57	SNP	0.999	T
COL8A2	1296	genome.wustl.edu	37	1	36563365	36563365	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:36563365C>A	ENST00000397799.1	-	4	2141	c.1917G>T	c.(1915-1917)aaG>aaT	p.K639N	COL8A2_ENST00000303143.4_Missense_Mutation_p.K639N|COL8A2_ENST00000481785.1_Missense_Mutation_p.K574N			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	639	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACGTTGTTCTTGTACAGGG	0.607																																						dbGAP											0													108.0	94.0	99.0					1																	36563365		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1917G>T	1.37:g.36563365C>A	ENSP00000380901:p.Lys639Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JV31|Q8TEJ5	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.K639N	ENST00000397799.1	37	c.1917	CCDS403.1	1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295994	0.60086	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	T;T;T	0.77750	-1.12;-1.12;-1.12	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91341	0.5097	10	0.46703	T	0.11	.	12.7379	0.57236	0.0:0.9212:0.0:0.0788	.	639	P25067	CO8A2_HUMAN	N	639;639;574;363	ENSP00000305913:K639N;ENSP00000380901:K639N;ENSP00000436433:K574N	ENSP00000305913:K639N	K	-	3	2	COL8A2	36335952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.392000	0.44433	2.548000	0.85928	0.563000	0.77884	AAG	COL8A2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000171812		0.607	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	HGNC	protein_coding	OTTHUMT00000313674.1	37	0.00	0	C	NM_005202		36563365	36563365	-1	no_errors	ENST00000303143	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	A
COLEC10	10584	genome.wustl.edu	37	8	120116067	120116067	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120116067G>A	ENST00000332843.2	+	5	416	c.375G>A	c.(373-375)cgG>cgA	p.R125R	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	125						collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAAGATACCGGAAATTTGTTG	0.373																																						dbGAP											0													206.0	206.0	206.0					8																	120116067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.375G>A	8.37:g.120116067G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYH6|Q6UW19	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R125	ENST00000332843.2	37	c.375	CCDS6327.1	8																																																																																			COLEC10	-	NULL	ENSG00000184374		0.373	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC10	HGNC	protein_coding	OTTHUMT00000381225.1	470	0.00	0	G			120116067	120116067	+1	no_errors	ENST00000332843	ensembl	human	known	69_37n	silent	279	14.42	47	SNP	1.000	A
COMMD10	51397	genome.wustl.edu	37	5	115428378	115428378	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:115428378G>T	ENST00000274458.4	+	4	442	c.380G>T	c.(379-381)aGa>aTa	p.R127I	COMMD10_ENST00000515539.1_Missense_Mutation_p.R113I	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	127										endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TTCCGGCAGAGAATTCTGGCT	0.343																																						dbGAP											0													82.0	79.0	80.0					5																	115428378		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY542165	CCDS34215.1	5q23.1	2008-02-05				ENSG00000145781			30201	protein-coding gene	gene with protein product						15799966	Standard	NM_016144		Approved	PTD002	uc003krt.1	Q9Y6G5		ENST00000274458.4:c.380G>T	5.37:g.115428378G>T	ENSP00000274458:p.Arg127Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT07|Q9P077	Missense_Mutation	SNP	pfam_HCaRG	p.R127I	ENST00000274458.4	37	c.380	CCDS34215.1	5	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527709	0.64860	.	.	ENSG00000145781	ENST00000274458;ENST00000515539;ENST00000506589	T;T;T	0.10005	2.92;2.92;2.92	5.87	5.87	0.94306	.	0.182350	0.64402	D	0.000011	T	0.34571	0.0902	M	0.76574	2.34	0.80722	D	1	D	0.62365	0.991	D	0.65233	0.933	T	0.00787	-1.1566	10	0.66056	D	0.02	-10.7341	19.3531	0.94398	0.0:0.0:1.0:0.0	.	127	Q9Y6G5	COMDA_HUMAN	I	127;113;83	ENSP00000274458:R127I;ENSP00000427319:R113I;ENSP00000424611:R83I	ENSP00000274458:R127I	R	+	2	0	COMMD10	115456277	1.000000	0.71417	0.999000	0.59377	0.481000	0.33189	3.916000	0.56416	2.941000	0.99782	0.655000	0.94253	AGA	COMMD10	-	pfam_HCaRG	ENSG00000145781		0.343	COMMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD10	HGNC	protein_coding	OTTHUMT00000371033.1	133	0.00	0	G	NM_016144		115428378	115428378	+1	no_errors	ENST00000274458	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	1.000	T
COMMD2	51122	genome.wustl.edu	37	3	149468587	149468587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:149468587C>A	ENST00000473414.1	-	4	334	c.280G>T	c.(280-282)Gaa>Taa	p.E94*		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	94										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTGTTTAATTCTTCAGAGAAT	0.353																																						dbGAP											0													100.0	99.0	99.0					3																	149468587		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.280G>T	3.37:g.149468587C>A	ENSP00000419475:p.Glu94*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q561V4|Q9H3L5|Q9Y5V1	Nonsense_Mutation	SNP	pfam_HCaRG	p.E94*	ENST00000473414.1	37	c.280	CCDS3145.1	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574628	0.86542	.	.	ENSG00000114744	ENST00000473414	.	.	.	5.66	4.77	0.60923	.	0.090521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-36.1072	16.1676	0.81782	0.1344:0.8656:0.0:0.0	.	.	.	.	X	94	.	ENSP00000419475:E94X	E	-	1	0	COMMD2	150951277	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	3.684000	0.54671	1.481000	0.48307	0.650000	0.86243	GAA	COMMD2	-	pfam_HCaRG	ENSG00000114744		0.353	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD2	HGNC	protein_coding	OTTHUMT00000356515.1	219	0.00	0	C	NM_016094		149468587	149468587	-1	no_errors	ENST00000473414	ensembl	human	known	69_37n	nonsense	99	26.67	36	SNP	1.000	A
COMMD3	23412	genome.wustl.edu	37	10	22608896	22608896	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:22608896C>T	ENST00000376836.3	+	8	1001	c.557C>T	c.(556-558)tCg>tTg	p.S186L	BMI1_ENST00000376663.3_5'Flank|COMMD3-BMI1_ENST00000602390.1_Intron|COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_Intron	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	186	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(2)|lung(2)|ovary(1)	5						AAAGATGCTTCGAAAAGCCTG	0.438																																						dbGAP											0													89.0	97.0	94.0					10																	22608896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 8"""	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.557C>T	10.37:g.22608896C>T	ENSP00000366032:p.Ser186Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRU7|Q5T8Y9	Nonsense_Mutation	SNP	pfam_HCaRG	p.R140*	ENST00000376836.3	37	c.418	CCDS7137.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.540057|4.540057	0.85917|0.85917	.|.	.|.	ENSG00000148444|ENSG00000148444	ENST00000376776;ENST00000448361|ENST00000376836;ENST00000376787;ENST00000444869	.|T	.|0.08634	.|3.07	5.59|5.59	5.59|5.59	0.84812|0.84812	.|COMM domain (1);	.|0.314247	.|0.33591	.|N	.|0.004755	.|T	.|0.12347	.|0.0300	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|B	.|0.31879	.|0.344	.|B	.|0.32090	.|0.14	.|T	.|0.02942	.|-1.1091	.|10	0.02654|0.46703	T|T	1|0.11	-14.6456|-14.6456	19.1939|19.1939	0.93679|0.93679	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|186	.|Q9UBI1	.|COMD3_HUMAN	X|L	147;140|186;153;146	.|ENSP00000366032:S186L	ENSP00000365968:R147X|ENSP00000365983:S153L	R|S	+|+	1|2	2|0	COMMD3|COMMD3	22648902|22648902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.006000|7.006000	0.76329|0.76329	2.639000|2.639000	0.89480|0.89480	0.650000|0.650000	0.86243|0.86243	CGA|TCG	COMMD3	-	pfam_HCaRG	ENSG00000148444		0.438	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD3	HGNC	protein_coding	OTTHUMT00000047159.1	74	0.00	0	C	NM_012071		22608896	22608896	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448361	ensembl	human	known	69_37n	nonsense	34	26.09	12	SNP	0.999	T
COPA	1314	genome.wustl.edu	37	1	160259952	160259952	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160259952G>A	ENST00000241704.7	-	33	3899	c.3670C>T	c.(3670-3672)Cgc>Tgc	p.R1224C	COPA_ENST00000368069.3_Missense_Mutation_p.R1233C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1224					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCCTTAGCGAAACTGCAGA	0.458																																						dbGAP											0													302.0	317.0	312.0					1																	160259952		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3670C>T	1.37:g.160259952G>A	ENSP00000241704:p.Arg1224Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1233C	ENST00000241704.7	37	c.3697	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.177796	0.94846	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.59772	0.24;0.24	5.99	5.99	0.97316	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.961	T	0.79152	-0.1921	10	0.87932	D	0	.	19.0415	0.93002	0.0:0.0:1.0:0.0	.	1224;1233	P53621;P53621-2	COPA_HUMAN;.	C	1233;1224	ENSP00000357048:R1233C;ENSP00000241704:R1224C	ENSP00000241704:R1224C	R	-	1	0	COPA	158526576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.051000	0.93849	2.840000	0.97914	0.655000	0.94253	CGC	COPA	-	pfam_Coatomer_asu_C	ENSG00000122218		0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	347	0.00	0	G	NM_004371		160259952	160259952	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	283	13.41	44	SNP	1.000	A
COPA	1314	genome.wustl.edu	37	1	160261861	160261861	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160261861G>A	ENST00000241704.7	-	29	3317	c.3088C>T	c.(3088-3090)Cgt>Tgt	p.R1030C	COPA_ENST00000368069.3_Missense_Mutation_p.R1039C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1030					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATGGAACGGAATTTTTCC	0.512											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													181.0	180.0	180.0					1																	160261861		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3088C>T	1.37:g.160261861G>A	ENSP00000241704:p.Arg1030Cys	Somatic	1807	WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1039C	ENST00000241704.7	37	c.3115	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112924	0.77210	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.955;0.958	T	0.75811	-0.3186	10	0.72032	D	0.01	-15.1108	18.1556	0.89689	0.0:0.0:1.0:0.0	.	1030;1039	P53621;P53621-2	COPA_HUMAN;.	C	1039;1030	ENSP00000357048:R1039C;ENSP00000241704:R1030C	ENSP00000241704:R1030C	R	-	1	0	COPA	158528485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.604000	0.67626	2.873000	0.98535	0.561000	0.74099	CGT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.512	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	331	0.00	0	G	NM_004371		160261861	160261861	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	238	25.16	80	SNP	1.000	A
COPG1	22820	genome.wustl.edu	37	3	128984506	128984506	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:128984506G>A	ENST00000314797.6	+	14	1443	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	447					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CGAGGACTGCGAGTTCACAGT	0.532																																						dbGAP											0													139.0	109.0	119.0					3																	128984506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1339G>A	3.37:g.128984506G>A	ENSP00000325002:p.Glu447Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.E447K	ENST00000314797.6	37	c.1339	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351699	0.82132	.	.	ENSG00000181789	ENST00000314797	T	0.13089	2.62	6.17	6.17	0.99709	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.94021	3.485	0.80722	D	1	D	0.67145	0.996	D	0.74348	0.983	T	0.58423	-0.7639	10	0.59425	D	0.04	-12.8466	18.3732	0.90420	0.0:0.0:1.0:0.0	.	447	Q9Y678	COPG_HUMAN	K	447	ENSP00000325002:E447K	ENSP00000325002:E447K	E	+	1	0	COPG	130467196	1.000000	0.71417	0.351000	0.25721	0.020000	0.10135	9.598000	0.98277	2.941000	0.99782	0.655000	0.94253	GAG	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	269	0.00	0	G	NM_016128		128984506	128984506	+1	no_errors	ENST00000314797	ensembl	human	known	69_37n	missense	197	15.45	36	SNP	1.000	A
MEST	4232	genome.wustl.edu	37	7	130148493	130148493	+	IGR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:130148493G>A	ENST00000223215.4	+	0	2465				RP11-2E11.9_ENST00000604965.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGCTAAAGGAGCCTGCAACTG	0.502																																					Colon(126;2182 2305 6517 35181)	dbGAP											0													55.0	52.0	53.0					7																	130148493		2030	4161	6191	-	-	-	SO:0001628	intergenic_variant	0				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661		7.37:g.130148493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	pfam_Coatomer_gsu_app,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like	p.A3V	ENST00000223215.4	37	c.8	CCDS5822.1	7	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330300	0.10956	.	.	ENSG00000158623	ENST00000425248	.	.	.	5.13	1.2	0.21068	.	.	.	.	.	T	0.50565	0.1623	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	.	4.382	0.11299	0.4026:0.0:0.4514:0.1461	.	.	.	.	V	3	.	.	A	-	2	0	COPG2	129935729	1.000000	0.71417	0.992000	0.48379	0.525000	0.34531	1.045000	0.30341	0.013000	0.14918	-0.140000	0.14226	GCT	COPG2	-	pfam_Coatomer_gsu_app,superfamily_Coatomer/clathrin_app_Ig-like	ENSG00000158623		0.502	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG2	HGNC	protein_coding	OTTHUMT00000345183.2	59	0.00	0	G	NM_002402		130148493	130148493	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000425248	ensembl	human	known	69_37n	missense	83	18.45	19	SNP	0.996	A
COX20	116228	genome.wustl.edu	37	1	245006387	245006387	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:245006387G>T	ENST00000411948.2	+	4	659	c.266G>T	c.(265-267)aGa>aTa	p.R89I	COX20_ENST00000366528.3_Missense_Mutation_p.R101I|HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU-AS1_ENST00000489705.1_RNA|COX20_ENST00000498262.1_3'UTR	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	89						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											ATCCAGGAAAGAATTGCCAGA	0.318																																						dbGAP											0													35.0	43.0	40.0					1																	245006387		2190	4298	6488	-	-	-	SO:0001583	missense	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.266G>T	1.37:g.245006387G>T	ENSP00000406327:p.Arg89Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV86	Missense_Mutation	SNP	pfam_Cox20/FAM36A,prints_FAM36A	p.R101I	ENST00000411948.2	37	c.302	CCDS31080.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259239	0.80246	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.63	5.63	0.86233	.	0.041393	0.85682	D	0.000000	T	0.78848	0.4348	M	0.83603	2.65	0.58432	D	0.999997	D	0.71674	0.998	D	0.66979	0.948	T	0.81441	-0.0931	9	0.72032	D	0.01	-26.0448	12.9433	0.58359	0.0741:0.0:0.9259:0.0	.	89	Q5RI15	FA36A_HUMAN	I	89;101	.	ENSP00000355486:R101I	R	+	2	0	FAM36A	243073010	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.314000	0.59166	2.646000	0.89796	0.557000	0.71058	AGA	COX20	-	pfam_Cox20/FAM36A	ENSG00000203667		0.318	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1	212	0.00	0	G	NM_198076		245006387	245006387	+1	no_errors	ENST00000366528	ensembl	human	known	69_37n	missense	159	12.64	23	SNP	1.000	T
COX7A2L	9167	genome.wustl.edu	37	2	42578176	42578176	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:42578176C>T	ENST00000378669.1	-	0	1357				COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_3'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						CTTTAACTGTCGAATGAGCTC	0.383																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.*183G>A	2.37:g.42578176C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P118	RNA	SNP	-	NULL	ENST00000378669.1	37	NULL	CCDS1808.1	2																																																																																			COX7A2L	-	-	ENSG00000115944		0.383	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A2L	HGNC	protein_coding	OTTHUMT00000250466.3	10	0.00	0	C	NM_004718		42578176	42578176	-1	no_errors	ENST00000482463	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.010	T
COX7B2	170712	genome.wustl.edu	37	4	46736981	46736981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:46736981C>A	ENST00000396533.1	-	4	479	c.229G>T	c.(229-231)Gag>Tag	p.E77*	COX7B2_ENST00000543208.1_Nonsense_Mutation_p.E76*|COX7B2_ENST00000355591.3_Nonsense_Mutation_p.E77*|COX7B2_ENST00000302930.5_Nonsense_Mutation_p.E77*			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	77						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						TGTTTCCACTCTTTTGGGGTA	0.408																																						dbGAP											0													104.0	93.0	96.0					4																	46736981		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.229G>T	4.37:g.46736981C>A	ENSP00000379784:p.Glu77*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q40	Nonsense_Mutation	SNP	pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom	p.E77*	ENST00000396533.1	37	c.229	CCDS3472.2	4	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378412	0.61735	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208	.	.	.	4.57	1.87	0.25490	.	0.054144	0.64402	D	0.000001	.	.	.	.	.	.	0.29559	N	0.850753	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.2042	4.6157	0.12424	0.0:0.6221:0.1815:0.1964	.	.	.	.	X	77;77;77;76	.	ENSP00000305964:E77X	E	-	1	0	COX7B2	46431738	0.274000	0.24191	0.340000	0.25575	0.913000	0.54294	0.503000	0.22610	0.407000	0.25591	0.585000	0.79938	GAG	COX7B2	-	pfam_Cyt_c_oxidase_suVIIB,superfamily_Cyt_c_oxidase_suVIIB_dom	ENSG00000170516		0.408	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	COX7B2	HGNC	protein_coding	OTTHUMT00000313899.1	251	0.00	0	C	NM_130902		46736981	46736981	-1	no_errors	ENST00000302930	ensembl	human	known	69_37n	nonsense	188	11.74	25	SNP	0.363	A
CP	1356	genome.wustl.edu	37	3	148896220	148896220	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:148896220C>A	ENST00000264613.6	-	16	3122	c.2860G>T	c.(2860-2862)Gaa>Taa	p.E954*		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	954	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E954K(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTATTGCTTTCTATGAATTCC	0.289																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											117.0	108.0	111.0					3																	148896220		2201	4300	6501	-	-	-	SO:0001587	stop_gained	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2860G>T	3.37:g.148896220C>A	ENSP00000264613:p.Glu954*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14063|Q2PP18|Q9UKS4	Nonsense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.E954*	ENST00000264613.6	37	c.2860	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	44	10.804999	0.99470	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	.	.	.	5.68	5.68	0.88126	.	0.098183	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-27.1399	19.7948	0.96474	0.0:1.0:0.0:0.0	.	.	.	.	X	89;954;737	.	ENSP00000264613:E954X	E	-	1	0	CP	150378910	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.757000	0.68766	2.687000	0.91594	0.650000	0.86243	GAA	CP	-	pfam_Cu-oxidase,superfamily_Cupredoxin	ENSG00000047457		0.289	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	687	0.00	0	C	NM_000096		148896220	148896220	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	nonsense	416	29.37	173	SNP	1.000	A
CPB1	1360	genome.wustl.edu	37	3	148577799	148577799	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:148577799C>A	ENST00000491148.1	+	0	1598				CPB1_ENST00000498639.1_3'UTR|CPB1_ENST00000282957.4_3'UTR|RP11-680B3.2_ENST00000488190.1_RNA			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)							extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GTTGAGAAAGCTGATGGCCTT	0.423																																						dbGAP											0													58.0	59.0	58.0					3																	148577799		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.*10C>A	3.37:g.148577799C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60834|Q53XJ0|Q96BQ8	RNA	SNP	-	NULL	ENST00000491148.1	37	NULL	CCDS33874.1	3																																																																																			CPB1	-	-	ENSG00000153002		0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	82	0.00	0	C	NM_001871		148577799	148577799	+1	no_errors	ENST00000476847	ensembl	human	putative	69_37n	rna	44	25.42	15	SNP	0.003	A
CPA3	1359	genome.wustl.edu	37	3	148601559	148601559	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:148601559C>A	ENST00000296046.3	+	9	990	c.938C>A	c.(937-939)cCc>cAc	p.P313H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	313					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P313>?(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTATTGTTTCCCTATGGATAT	0.408																																						dbGAP											1	Complex(1)	NS(1)											108.0	91.0	97.0					3																	148601559		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.938C>A	3.37:g.148601559C>A	ENSP00000296046:p.Pro313His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E94	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.P313H	ENST00000296046.3	37	c.938	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208099	0.79240	.	.	ENSG00000163751	ENST00000296046	T	0.45276	0.9	4.77	4.77	0.60923	Peptidase M14, carboxypeptidase A (4);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88691	0.3209	10	0.87932	D	0	.	16.7082	0.85378	0.0:1.0:0.0:0.0	.	313	P15088	CBPA3_HUMAN	H	313	ENSP00000296046:P313H	ENSP00000296046:P313H	P	+	2	0	CPA3	150084249	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.828000	0.62730	2.493000	0.84123	0.460000	0.39030	CCC	CPA3	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	ENSG00000163751		0.408	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	HGNC	protein_coding	OTTHUMT00000355974.1	131	0.00	0	C	NM_001870		148601559	148601559	+1	no_errors	ENST00000296046	ensembl	human	known	69_37n	missense	87	11.22	11	SNP	1.000	A
CP	1356	genome.wustl.edu	37	3	148928071	148928071	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:148928071C>A	ENST00000264613.6	-	3	752	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	164	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGACTTTGTTCTTCAGTGGCA	0.448																																						dbGAP											0													204.0	178.0	187.0					3																	148928071		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.490G>T	3.37:g.148928071C>A	ENSP00000264613:p.Glu164*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14063|Q2PP18|Q9UKS4	Nonsense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.E164*	ENST00000264613.6	37	c.490	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.722908	0.96847	.	.	ENSG00000047457	ENST00000264613	.	.	.	5.43	2.47	0.30058	.	1.477830	0.03183	N	0.172353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.4175	10.5558	0.45117	0.0:0.6832:0.2478:0.069	.	.	.	.	X	164	.	ENSP00000264613:E164X	E	-	1	0	CP	150410761	0.008000	0.16893	0.003000	0.11579	0.454000	0.32378	0.623000	0.24447	0.580000	0.29522	0.557000	0.71058	GAA	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000047457		0.448	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	544	0.00	0	C	NM_000096		148928071	148928071	-1	no_errors	ENST00000264613	ensembl	human	known	69_37n	nonsense	367	13.85	59	SNP	0.005	A
CPD	1362	genome.wustl.edu	37	17	28750580	28750580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:28750580G>T	ENST00000225719.4	+	6	1790	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	CPD_ENST00000543464.2_Nonsense_Mutation_p.E325*	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	572	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GGTTGGAAGAGAACTGCTGTT	0.358																																						dbGAP											0													141.0	135.0	137.0					17																	28750580		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1714G>T	17.37:g.28750580G>T	ENSP00000225719:p.Glu572*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Nonsense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E572*	ENST00000225719.4	37	c.1714	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.698396	0.98918	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6634	0.91479	0.0:0.0:1.0:0.0	.	.	.	.	X	572;325	.	ENSP00000225719:E572X	E	+	1	0	CPD	25774706	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.648000	0.89879	0.563000	0.77884	GAA	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.358	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	575	0.00	0	G	NM_001304		28750580	28750580	+1	no_errors	ENST00000225719	ensembl	human	known	69_37n	nonsense	347	12.15	48	SNP	1.000	T
CPD	1362	genome.wustl.edu	37	17	28769412	28769412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:28769412G>T	ENST00000225719.4	+	10	2393	c.2317G>T	c.(2317-2319)Gag>Tag	p.E773*	CPD_ENST00000543464.2_Nonsense_Mutation_p.E526*	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	773	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACTTGAGAAAGAGCTGCCAAA	0.373																																						dbGAP											0													96.0	92.0	93.0					17																	28769412		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2317G>T	17.37:g.28769412G>T	ENSP00000225719:p.Glu773*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Nonsense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.E773*	ENST00000225719.4	37	c.2317	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.363196	0.99148	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	.	.	.	5.6	5.6	0.85130	.	0.455087	0.27866	N	0.017534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.5974	0.91234	0.0:0.0:1.0:0.0	.	.	.	.	X	773;526	.	ENSP00000225719:E773X	E	+	1	0	CPD	25793538	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.333000	0.96459	2.640000	0.89533	0.585000	0.79938	GAG	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.373	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	297	0.00	0	G	NM_001304		28769412	28769412	+1	no_errors	ENST00000225719	ensembl	human	known	69_37n	nonsense	211	16.60	42	SNP	0.998	T
CPEB1	64506	genome.wustl.edu	37	15	83222297	83222297	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:83222297A>C	ENST00000562019.1	-	7	1299	c.983T>G	c.(982-984)gTt>gGt	p.V328G	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.V253G|CPEB1_ENST00000564522.1_Missense_Mutation_p.V253G|CPEB1_ENST00000568128.1_Missense_Mutation_p.V328G|CPEB1_ENST00000568757.1_Missense_Mutation_p.V253G|CPEB1_ENST00000450751.2_Missense_Mutation_p.V253G|CPEB1_ENST00000261723.6_Missense_Mutation_p.V331G|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.L63V|CPEB1_ENST00000423133.2_Missense_Mutation_p.V253G|CPEB1_ENST00000563800.1_Missense_Mutation_p.V355G|CPEB1_ENST00000398592.2_Missense_Mutation_p.V102G			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	328	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAAGGTGTTAACTAATCCAGC	0.473																																						dbGAP											0													51.0	51.0	51.0					15																	83222297		1970	4157	6127	-	-	-	SO:0001583	missense	0			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.983T>G	15.37:g.83222297A>C	ENSP00000457836:p.Val328Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.V328G	ENST00000562019.1	37	c.983		15	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328580	0.60743	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T;T	0.25085	1.82;3.34;3.34;3.34;3.34	5.54	5.54	0.83059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.124128	0.49916	U	0.000129	T	0.23410	0.0566	L	0.39898	1.24	0.58432	D	0.999999	P;B;B;B	0.34757	0.467;0.256;0.067;0.256	B;B;B;B	0.32211	0.142;0.056;0.095;0.056	T	0.02567	-1.1140	10	0.45353	T	0.12	-5.5693	15.6749	0.77307	1.0:0.0:0.0:0.0	.	331;328;328;328	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	G	328;328;253;253;331;102	ENSP00000414187:V328G;ENSP00000397526:V253G;ENSP00000381591:V253G;ENSP00000261723:V331G;ENSP00000381592:V102G	ENSP00000261723:V331G	V	-	2	0	CPEB1	81019352	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.326000	0.79133	2.110000	0.64415	0.460000	0.39030	GTT	CPEB1	-	pfscan_RRM_dom	ENSG00000214575		0.473	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	285	0.00	0	A	NM_030594		83222297	83222297	-1	no_errors	ENST00000562019	ensembl	human	known	69_37n	missense	300	15.21	54	SNP	1.000	C
CPEB1	64506	genome.wustl.edu	37	15	83226725	83226725	+	Missense_Mutation	SNP	G	G	A	rs374108325		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:83226725G>A	ENST00000562019.1	-	4	707	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.L56F|CPEB1_ENST00000564522.1_Missense_Mutation_p.L56F|CPEB1_ENST00000568128.1_Missense_Mutation_p.L131F|CPEB1_ENST00000568757.1_Missense_Mutation_p.L56F|CPEB1_ENST00000450751.2_Missense_Mutation_p.L56F|CPEB1_ENST00000261723.6_Missense_Mutation_p.L134F|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000423133.2_Missense_Mutation_p.L56F|CPEB1_ENST00000563800.1_Missense_Mutation_p.L158F|CPEB1_ENST00000398592.2_Intron			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	131					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGTTATGGAGCATGCTCAGT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18665	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													46.0	47.0	47.0					15																	83226725		1908	4128	6036	-	-	-	SO:0001583	missense	0			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.391C>T	15.37:g.83226725G>A	ENSP00000457836:p.Leu131Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.L131F	ENST00000562019.1	37	c.391		15	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658316	0.88154	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723	.	.	.	5.84	5.84	0.93424	.	0.165511	0.41500	U	0.000864	T	0.72479	0.3465	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.997	T	0.74435	-0.3666	9	0.87932	D	0	-15.0168	20.1379	0.98040	0.0:0.0:1.0:0.0	.	134;131;131;131	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	F	131;131;56;56;134	.	ENSP00000261723:L134F	L	-	1	0	CPEB1	81023780	1.000000	0.71417	0.998000	0.56505	0.775000	0.43874	6.117000	0.71577	2.779000	0.95612	0.655000	0.94253	CTC	CPEB1	-	NULL	ENSG00000214575		0.507	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	123	0.00	0	G	NM_030594		83226725	83226725	-1	no_errors	ENST00000562019	ensembl	human	known	69_37n	missense	82	31.67	38	SNP	1.000	A
CPED1	79974	genome.wustl.edu	37	7	120740021	120740021	+	Missense_Mutation	SNP	G	G	A	rs187314481		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:120740021G>A	ENST00000310396.5	+	7	1258	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CPED1_ENST00000450913.2_Missense_Mutation_p.R264Q|CPED1_ENST00000423795.1_Missense_Mutation_p.R44Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	264						endoplasmic reticulum (GO:0005783)											ACAATCTTTCGAGCCGAAGAT	0.403																																						dbGAP											0													162.0	139.0	147.0					7																	120740021		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.791G>A	7.37:g.120740021G>A	ENSP00000309772:p.Arg264Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.R264Q	ENST00000310396.5	37	c.791	CCDS34739.1	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.499	0.277033	0.10403	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.42900	2.28;0.96;1.96;1.8;1.37	5.58	1.2	0.21068	.	0.356149	0.27155	N	0.020679	T	0.22666	0.0547	L	0.37561	1.115	0.35795	D	0.822692	P;B;B	0.36065	0.535;0.18;0.088	B;B;B	0.23852	0.049;0.013;0.005	T	0.18650	-1.0330	10	0.24483	T	0.36	-4.5133	6.6215	0.22806	0.4919:0.0:0.5081:0.0	.	44;264;264	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	Q	264;264;264;44;44	ENSP00000309772:R264Q;ENSP00000398082:R264Q;ENSP00000406122:R264Q;ENSP00000415573:R44Q;ENSP00000391952:R44Q	ENSP00000309772:R264Q	R	+	2	0	C7orf58	120527257	0.034000	0.19679	0.036000	0.18154	0.050000	0.14768	0.367000	0.20382	0.323000	0.23307	-0.951000	0.02657	CGA	CPED1	-	NULL	ENSG00000106034		0.403	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	297	0.34	1	G	NM_024913		120740021	120740021	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	missense	207	11.91	28	SNP	0.416	A
CPED1	79974	genome.wustl.edu	37	7	120935617	120935617	+	Nonsense_Mutation	SNP	C	C	T	rs573221210	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:120935617C>T	ENST00000310396.5	+	23	3459	c.2992C>T	c.(2992-2994)Cga>Tga	p.R998*		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	998						endoplasmic reticulum (GO:0005783)											AACAAATTTTCGATCGCCATA	0.358													C|||	5	0.000998403	0.0	0.0	5008	,	,		21754	0.0		0.0	False		,,,				2504	0.0051					dbGAP											0													101.0	96.0	97.0					7																	120935617		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2992C>T	7.37:g.120935617C>T	ENSP00000309772:p.Arg998*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	NULL	p.R998*	ENST00000310396.5	37	c.2992	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.877950	0.98539	.	.	ENSG00000106034	ENST00000310396	.	.	.	5.65	3.84	0.44239	.	0.801903	0.11585	N	0.549380	.	.	.	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	6.5296	0.22320	0.136:0.6643:0.1309:0.0688	.	.	.	.	X	998	.	ENSP00000309772:R998X	R	+	1	2	C7orf58	120722853	0.005000	0.15991	0.001000	0.08648	0.099000	0.18886	0.754000	0.26390	0.847000	0.35167	-0.176000	0.13171	CGA	CPED1	-	NULL	ENSG00000106034		0.358	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	95	0.00	0	C	NM_024913		120935617	120935617	+1	no_errors	ENST00000310396	ensembl	human	known	69_37n	nonsense	84	26.72	31	SNP	0.003	T
CPNE5	57699	genome.wustl.edu	37	6	36767835	36767835	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:36767835C>T	ENST00000244751.2	-	4	820	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	66	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGATGACTTCGGTGCGCCCA	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.196G>A	6.37:g.36767835C>T	ENSP00000244751:p.Glu66Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z6C8	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.E66K	ENST00000244751.2	37	c.196	CCDS4825.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938365	0.73557	.	.	ENSG00000124772	ENST00000244751	T	0.67523	-0.27	5.17	5.17	0.71159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79586	-0.1742	10	0.87932	D	0	.	16.1651	0.81747	0.0:1.0:0.0:0.0	.	66	Q9HCH3	CPNE5_HUMAN	K	66	ENSP00000244751:E66K	ENSP00000244751:E66K	E	-	1	0	CPNE5	36875813	1.000000	0.71417	0.951000	0.38953	0.012000	0.07955	7.528000	0.81941	2.397000	0.81536	0.561000	0.74099	GAA	CPNE5	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000124772		0.567	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	46	0.00	0	C	NM_020939		36767835	36767835	-1	no_errors	ENST00000244751	ensembl	human	known	69_37n	missense	32	42.86	24	SNP	1.000	T
CPNE6	9362	genome.wustl.edu	37	14	24545068	24545068	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24545068C>A	ENST00000397016.2	+	11	1208	c.897C>A	c.(895-897)atC>atA	p.I299I	CPNE6_ENST00000216775.2_Silent_p.I299I|CPNE6_ENST00000537691.1_Silent_p.I354I	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	299					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGGATTACATCATGGGTGGCT	0.587																																						dbGAP											0													69.0	64.0	66.0					14																	24545068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.897C>A	14.37:g.24545068C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.I354	ENST00000397016.2	37	c.1062	CCDS9607.1	14																																																																																			CPNE6	-	NULL	ENSG00000100884		0.587	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5	112	0.00	0	C			24545068	24545068	+1	no_errors	ENST00000537691	ensembl	human	known	69_37n	silent	98	16.95	20	SNP	1.000	A
CPNE8	144402	genome.wustl.edu	37	12	39117598	39117598	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:39117598G>T	ENST00000331366.5	-	13	986	c.890C>A	c.(889-891)tCa>tAa	p.S297*	CPNE8_ENST00000538596.2_5'Flank|CPNE8_ENST00000360449.3_Nonsense_Mutation_p.S285*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	297						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTCAAGGAATGAAACTTCTGT	0.363																																						dbGAP											0													101.0	98.0	99.0					12																	39117598		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.890C>A	12.37:g.39117598G>T	ENSP00000329748:p.Ser297*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB41|Q86VY2	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.S297*	ENST00000331366.5	37	c.890	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.893632	0.97074	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	.	.	.	4.51	4.51	0.55191	.	0.385025	0.26620	N	0.023372	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-11.3597	16.8769	0.86054	0.0:0.0:1.0:0.0	.	.	.	.	X	297;285	.	ENSP00000329748:S297X	S	-	2	0	CPNE8	37403865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.729000	0.84864	2.446000	0.82766	0.563000	0.77884	TCA	CPNE8	-	NULL	ENSG00000139117		0.363	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	254	0.00	0	G	NM_153634		39117598	39117598	-1	no_errors	ENST00000331366	ensembl	human	known	69_37n	nonsense	136	30.26	59	SNP	1.000	T
CPNE8	144402	genome.wustl.edu	37	12	39268287	39268287	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:39268287G>T	ENST00000331366.5	-	2	221	c.125C>A	c.(124-126)tCt>tAt	p.S42Y	CPNE8_ENST00000360449.3_Missense_Mutation_p.S30Y	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	42	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ATCAGATTTAGAAAATGTGTC	0.264																																						dbGAP											0													45.0	52.0	50.0					12																	39268287		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.125C>A	12.37:g.39268287G>T	ENSP00000329748:p.Ser42Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A	p.S42Y	ENST00000331366.5	37	c.125	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372924	0.61624	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.49139	0.79;0.79	4.43	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.78622	0.4312	H	0.98682	4.3	0.44085	D	0.996845	D	0.57571	0.98	D	0.64877	0.93	D	0.86340	0.1704	10	0.87932	D	0	-15.4541	13.2635	0.60120	0.0:0.0:1.0:0.0	.	42	Q86YQ8	CPNE8_HUMAN	Y	42;30	ENSP00000329748:S42Y;ENSP00000353633:S30Y	ENSP00000329748:S42Y	S	-	2	0	CPNE8	37554554	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	4.972000	0.63756	2.396000	0.81511	0.585000	0.79938	TCT	CPNE8	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000139117		0.264	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	134	0.00	0	G	NM_153634		39268287	39268287	-1	no_errors	ENST00000331366	ensembl	human	known	69_37n	missense	63	11.27	8	SNP	0.998	T
CPSF6	11052	genome.wustl.edu	37	12	69656334	69656334	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:69656334C>T	ENST00000435070.2	+	9	1761	c.1651C>T	c.(1651-1653)Cgt>Tgt	p.R551C	CPSF6_ENST00000551516.1_Silent_p.I53I|CPSF6_ENST00000456847.3_Missense_Mutation_p.R478C|CPSF6_ENST00000266679.8_Missense_Mutation_p.R588C	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	551	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATATCGTCATCGTTAGAAGGT	0.453																																						dbGAP											0													192.0	130.0	151.0					12																	69656334		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1651C>T	12.37:g.69656334C>T	ENSP00000391774:p.Arg551Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R588C	ENST00000435070.2	37	c.1762	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722549	0.68959	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.40543	1.245	0.80722	D	1	B;B;B	0.17465	0.001;0.022;0.013	B;B;B	0.08055	0.001;0.003;0.001	T	0.42799	-0.9430	8	.	.	.	.	15.5295	0.75942	0.0:0.9294:0.0:0.0706	.	300;588;551	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	C	551;478;588	.	.	R	+	1	0	CPSF6	67942601	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGT	CPSF6	-	NULL	ENSG00000111605		0.453	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	475	0.00	0	C	NM_007007		69656334	69656334	+1	no_errors	ENST00000266679	ensembl	human	known	69_37n	missense	356	26.90	131	SNP	1.000	T
CPT1C	126129	genome.wustl.edu	37	19	50213680	50213680	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:50213680G>A	ENST00000392518.4	+	15	2042	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q	CPT1C_ENST00000598293.1_Missense_Mutation_p.R557Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R546Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R557Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.R557Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	557	Coenzyme A binding. {ECO:0000250}.				carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGCTTCATCCGACGCTGCCAC	0.567																																						dbGAP											0													124.0	104.0	111.0					19																	50213680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1670G>A	19.37:g.50213680G>A	ENSP00000376303:p.Arg557Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R557Q	ENST00000392518.4	37	c.1670	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	g	17.31	3.356815	0.61293	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	4.67	1.84	0.25277	.	0.349443	0.21082	N	0.080465	T	0.73281	0.3567	N	0.14661	0.345	0.25205	N	0.99003	P;B;B;B	0.43578	0.811;0.157;0.154;0.185	B;B;B;B	0.29862	0.069;0.058;0.065;0.108	T	0.67841	-0.5566	10	0.87932	D	0	-4.2631	8.3732	0.32427	0.7602:0.0:0.2398:0.0	.	428;557;546;557	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	Q	557;557;546;557;428	ENSP00000376303:R557Q;ENSP00000346138:R557Q;ENSP00000384465:R546Q;ENSP00000319343:R557Q	ENSP00000295404:R428Q	R	+	2	0	CPT1C	54905492	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.095000	0.50235	0.482000	0.27582	0.299000	0.19835	CGA	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.567	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	96	0.00	0	G	NM_152359		50213680	50213680	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	missense	70	29.29	29	SNP	1.000	A
CPVL	54504	genome.wustl.edu	37	7	29111955	29111955	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:29111955C>T	ENST00000409850.1	-	12	1340	c.694G>A	c.(694-696)Gga>Aga	p.G232R	CPVL_ENST00000396276.3_Missense_Mutation_p.G232R|CPVL_ENST00000265394.5_Missense_Mutation_p.G232R			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	232						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATAGCAATTCCGTTCAGGTTG	0.438																																						dbGAP											0													151.0	127.0	135.0					7																	29111955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.694G>A	7.37:g.29111955C>T	ENSP00000387164:p.Gly232Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.G232R	ENST00000409850.1	37	c.694	CCDS5419.1	7	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487264	0.84854	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995;ENST00000448959	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99785	1.1029	10	0.87932	D	0	5.0E-4	17.5741	0.87943	0.0:1.0:0.0:0.0	.	232	Q9H3G5	CPVL_HUMAN	R	232;232;232;116;162	ENSP00000265394:G232R;ENSP00000379572:G232R;ENSP00000387164:G232R;ENSP00000409036:G162R	ENSP00000265394:G232R	G	-	1	0	CPVL	29078480	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.102000	0.77005	2.513000	0.84729	0.591000	0.81541	GGA	CPVL	-	pfam_Peptidase_S10	ENSG00000106066		0.438	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	364	0.00	0	C	NM_019029		29111955	29111955	-1	no_errors	ENST00000265394	ensembl	human	known	69_37n	missense	236	30.70	105	SNP	1.000	T
CPXM1	56265	genome.wustl.edu	37	20	2777701	2777701	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:2777701G>A	ENST00000380605.2	-	7	936	c.872C>T	c.(871-873)tCc>tTc	p.S291F		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	291					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGGGTCAGAGGATCCCGACGC	0.537																																						dbGAP											0													82.0	84.0	83.0					20																	2777701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.872C>T	20.37:g.2777701G>A	ENSP00000369979:p.Ser291Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom	p.S291F	ENST00000380605.2	37	c.872	CCDS13033.1	20	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442922	0.83993	.	.	ENSG00000088882	ENST00000380605	D	0.95821	-3.82	5.24	5.24	0.73138	.	0.181768	0.49305	D	0.000141	D	0.96482	0.8852	M	0.61703	1.905	0.38891	D	0.957117	D;D	0.67145	0.964;0.996	P;P	0.59171	0.647;0.853	D	0.96546	0.9404	10	0.46703	T	0.11	-25.0365	16.3669	0.83335	0.0:0.0:1.0:0.0	.	291;291	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	F	291	ENSP00000369979:S291F	ENSP00000369979:S291F	S	-	2	0	CPXM1	2725701	0.717000	0.27966	0.100000	0.21137	0.663000	0.39108	4.077000	0.57598	2.723000	0.93209	0.655000	0.94253	TCC	CPXM1	-	NULL	ENSG00000088882		0.537	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM1	HGNC	protein_coding	OTTHUMT00000077643.2	358	0.28	1	G	NM_019609		2777701	2777701	-1	no_errors	ENST00000380605	ensembl	human	known	69_37n	missense	170	10.88	21	SNP	0.616	A
CR1	1378	genome.wustl.edu	37	1	207785346	207785346	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207785346C>A	ENST00000367049.4	+	39	6535	c.6535C>A	c.(6535-6537)Ctc>Atc	p.L2179I	CR1_ENST00000367052.1_Missense_Mutation_p.L1729I|CR1_ENST00000367053.1_Missense_Mutation_p.L1729I|CR1_ENST00000400960.2_Missense_Mutation_p.L1729I|CR1_ENST00000367051.1_Missense_Mutation_p.L1729I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1729					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCACTTAATCTCCAGCTTGG	0.483																																						dbGAP											0													265.0	257.0	259.0					1																	207785346		1971	4146	6117	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6535C>A	1.37:g.207785346C>A	ENSP00000356016:p.Leu2179Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L2179I	ENST00000367049.4	37	c.6535	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	5.733	0.319663	0.10845	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	3.21	1.26	0.21427	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55909	0.1950	L	0.46670	1.46	0.09310	N	1	B;P	0.48407	0.406;0.91	B;P	0.48921	0.125;0.595	T	0.42207	-0.9465	9	0.28530	T	0.3	.	4.8108	0.13342	0.0:0.6836:0.0:0.3164	.	1729;2179	P17927;E9PDY4	CR1_HUMAN;.	I	1729;1729;1729;1729;2179	ENSP00000356019:L1729I;ENSP00000356018:L1729I;ENSP00000356020:L1729I;ENSP00000383744:L1729I;ENSP00000356016:L2179I	ENSP00000356016:L2179I	L	+	1	0	CR1	205851969	0.001000	0.12720	0.003000	0.11579	0.532000	0.34746	0.302000	0.19192	0.334000	0.23590	0.511000	0.50034	CTC	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	256	0.00	0	C	NM_000573		207785346	207785346	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	267	12.75	39	SNP	0.004	A
CRB1	23418	genome.wustl.edu	37	1	197403901	197403901	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197403901A>G	ENST00000367400.3	+	9	3043	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	CRB1_ENST00000535699.1_Missense_Mutation_p.T946A|CRB1_ENST00000544212.1_Missense_Mutation_p.T451A|CRB1_ENST00000367399.2_Missense_Mutation_p.T858A|CRB1_ENST00000367397.1_Missense_Mutation_p.T351A|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	970	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGGAATATTACCAGAGAACT	0.318																																						dbGAP											0													73.0	78.0	77.0					1																	197403901		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2908A>G	1.37:g.197403901A>G	ENSP00000356370:p.Thr970Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T970A	ENST00000367400.3	37	c.2908	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598918	0.28445	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.34	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.51601	0.1684	L	0.49350	1.555	0.26778	N	0.969659	B;B;B;B	0.24823	0.004;0.009;0.112;0.022	B;B;B;B	0.20384	0.006;0.013;0.029;0.011	T	0.43343	-0.9397	9	0.06625	T	0.88	.	4.8035	0.13308	0.7014:0.0:0.1477:0.1509	.	946;858;619;970	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	A	946;970;858;451;351;619	ENSP00000438786:T946A;ENSP00000356370:T970A;ENSP00000356369:T858A;ENSP00000444556:T451A;ENSP00000356367:T351A	ENSP00000356367:T351A	T	+	1	0	CRB1	195670524	0.901000	0.30685	0.988000	0.46212	0.932000	0.56968	1.540000	0.36115	0.811000	0.34303	0.533000	0.62120	ACC	CRB1	-	superfamily_ConA-like_lec_gl,pfscan_Laminin_G	ENSG00000134376		0.318	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	110	0.00	0	A	NM_201253		197403901	197403901	+1	no_errors	ENST00000367400	ensembl	human	known	69_37n	missense	110	12.70	16	SNP	0.884	G
CR2	1380	genome.wustl.edu	37	1	207640218	207640218	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207640218A>G	ENST00000367058.3	+	2	595	c.406A>G	c.(406-408)Aat>Gat	p.N136D	CR2_ENST00000367059.3_Missense_Mutation_p.N136D|CR2_ENST00000458541.2_Missense_Mutation_p.N136D|CR2_ENST00000367057.3_Missense_Mutation_p.N136D	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	136	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCAAGCAAATAATATGTGGGG	0.478																																						dbGAP											0													82.0	79.0	80.0					1																	207640218		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.406A>G	1.37:g.207640218A>G	ENSP00000356025:p.Asn136Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.N136D	ENST00000367058.3	37	c.406	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.376040	0.01214	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.0	-1.53	0.08611	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.47673	0.1458	L	0.39633	1.23	0.09310	N	1	B;B;B	0.24258	0.022;0.1;0.018	B;B;B	0.28553	0.046;0.091;0.027	T	0.37407	-0.9707	9	0.13470	T	0.59	.	9.0764	0.36525	0.5136:0.0:0.4864:0.0	.	136;136;136	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	D	136	ENSP00000356025:N136D;ENSP00000356024:N136D;ENSP00000356026:N136D;ENSP00000404222:N136D	ENSP00000356024:N136D	N	+	1	0	CR2	205706841	0.106000	0.21978	0.002000	0.10522	0.002000	0.02628	0.348000	0.20031	-0.447000	0.07138	-0.912000	0.02778	AAT	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.478	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	143	0.00	0	A	NM_001877		207640218	207640218	+1	no_errors	ENST00000367057	ensembl	human	known	69_37n	missense	116	40.21	78	SNP	0.015	G
CR1L	1379	genome.wustl.edu	37	1	207890889	207890889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207890889G>T	ENST00000508064.2	+	11	1555	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	499	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.E499*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTATGGAAAAGAAGTATCTTA	0.478																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											124.0	116.0	118.0					1																	207890889		1885	4102	5987	-	-	-	SO:0001587	stop_gained	0			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1495G>T	1.37:g.207890889G>T	ENSP00000421736:p.Glu499*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MC9|Q8NEU7	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E499*	ENST00000508064.2	37	c.1495	CCDS44310.1	1	.	.	.	.	.	.	.	.	.	.	.	18.78	3.697258	0.68386	.	.	ENSG00000197721	ENST00000508064	.	.	.	3.01	0.938	0.19500	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	6.1147	0.20120	0.2814:0.0:0.7186:0.0	.	.	.	.	X	499	.	ENSP00000421736:E499X	E	+	1	0	CR1L	205957512	0.016000	0.18221	0.002000	0.10522	0.149000	0.21700	0.350000	0.20079	0.087000	0.17167	0.305000	0.20034	GAA	CR1L	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000197721		0.478	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	504	0.00	0	G	XM_114735		207890889	207890889	+1	no_errors	ENST00000508064	ensembl	human	known	69_37n	nonsense	435	10.47	51	SNP	0.007	T
CREB3L3	84699	genome.wustl.edu	37	19	4157082	4157082	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:4157082G>A	ENST00000078445.2	+	3	394	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	CREB3L3_ENST00000602147.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000602257.1_Missense_Mutation_p.E83K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E73K|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E82K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	83					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTCCCCCGAAGGCAGTGA	0.672																																						dbGAP											0													70.0	58.0	62.0					19																	4157082		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.247G>A	19.37:g.4157082G>A	ENSP00000078445:p.Glu83Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.E83K	ENST00000078445.2	37	c.247	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030265	0.19512	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.76186	-1.0;-1.0	5.27	4.2	0.49525	.	0.419306	0.25636	N	0.029312	T	0.53222	0.1783	N	0.22421	0.69	0.09310	N	1	B;B;P;B	0.34629	0.249;0.33;0.46;0.33	B;B;B;B	0.23852	0.034;0.022;0.049;0.022	T	0.37033	-0.9723	10	0.12766	T	0.61	-20.407	11.0549	0.47911	0.0:0.0:0.8141:0.1859	.	83;83;82;83	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	K	83;83;73	ENSP00000078445:E83K;ENSP00000252587:E73K	ENSP00000078445:E83K	E	+	1	0	CREB3L3	4108082	0.379000	0.25123	0.048000	0.18961	0.104000	0.19210	2.573000	0.46007	1.188000	0.43014	0.537000	0.68136	GAA	CREB3L3	-	NULL	ENSG00000060566		0.672	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	40	0.00	0	G	NM_032607		4157082	4157082	+1	no_errors	ENST00000078445	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	0.008	A
CREB3L3	84699	genome.wustl.edu	37	19	4168368	4168368	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:4168368A>C	ENST00000078445.2	+	6	882	c.735A>C	c.(733-735)aaA>aaC	p.K245N	CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.K243N|CREB3L3_ENST00000252587.3_Missense_Mutation_p.K185N|CREB3L3_ENST00000595923.1_Missense_Mutation_p.K244N	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	245	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTGCTGAAAAAAATCCGCC	0.547																																						dbGAP											0													60.0	57.0	58.0					19																	4168368		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.735A>C	19.37:g.4168368A>C	ENSP00000078445:p.Lys245Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.K245N	ENST00000078445.2	37	c.735	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	A	22.0	4.232172	0.79688	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;T	0.93906	-3.31;-0.1	5.06	-1.41	0.08941	Basic-leucine zipper (bZIP) transcription factor (2);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.93550	3.43	0.51482	D	0.999926	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.998	D	0.95569	0.8636	10	0.72032	D	0.01	-31.1275	11.0785	0.48047	0.32:0.0:0.68:0.0	.	243;244;245	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	N	245;245;185	ENSP00000078445:K245N;ENSP00000252587:K185N	ENSP00000078445:K245N	K	+	3	2	CREB3L3	4119368	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	2.509000	0.45459	-0.180000	0.10637	0.533000	0.62120	AAA	CREB3L3	-	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000060566		0.547	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	110	0.00	0	A	NM_032607		4168368	4168368	+1	no_errors	ENST00000078445	ensembl	human	known	69_37n	missense	53	37.65	32	SNP	1.000	C
CREB5	9586	genome.wustl.edu	37	7	28547355	28547355	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:28547355G>T	ENST00000357727.2	+	4	681	c.291G>T	c.(289-291)cgG>cgT	p.R97R	CREB5_ENST00000396300.2_Splice_Site_p.R90R|CREB5_ENST00000396299.2_Splice_Site_p.R64R|CREB5_ENST00000409603.1_Splice_Site_p.R64R	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	97					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GCAGCAAGCGGGTAGGTTTGC	0.567																																						dbGAP											0													85.0	91.0	89.0					7																	28547355		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.291+1G>T	7.37:g.28547355G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R97	ENST00000357727.2	37	c.291	CCDS5417.1	7																																																																																			CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.567	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	166	0.00	0	G	NM_004904	Silent	28547355	28547355	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	silent	113	15.04	20	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3789684	3789684	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:3789684C>T	ENST00000262367.5	-	25	4984	c.4175G>A	c.(4174-4176)cGa>cAa	p.R1392Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1392	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTTTGGTTCGATATGGGAA	0.473			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													82.0	76.0	78.0					16																	3789684		2197	4300	6497	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4175G>A	16.37:g.3789684C>T	ENSP00000262367:p.Arg1392Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1392Q	ENST00000262367.5	37	c.4175	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	c	29.2	4.989285	0.93106	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93763	-3.28;-3.28	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.97046	0.9035	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.97115	0.9807	10	0.72032	D	0.01	-12.7816	19.8419	0.96692	0.0:1.0:0.0:0.0	.	1422;1392	Q4LE28;Q92793	.;CBP_HUMAN	Q	1392;1422;1354	ENSP00000262367:R1392Q;ENSP00000371502:R1354Q	ENSP00000262367:R1392Q	R	-	2	0	CREBBP	3729685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.713000	0.84693	2.767000	0.95098	0.561000	0.74099	CGA	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000005339		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	119	0.00	0	C	NM_004380		3789684	3789684	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	80	11.11	10	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3807914	3807914	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:3807914G>A	ENST00000262367.5	-	18	4314	c.3505C>T	c.(3505-3507)Cgc>Tgc	p.R1169C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1131C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1169	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A. {ECO:0000269|PubMed:24616510}.|Interaction with histone. {ECO:0000269|PubMed:24361270}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATGTCTTGCGATTATAGAGC	0.512			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													151.0	128.0	136.0					16																	3807914		2197	4300	6497	-	-	-	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3505C>T	16.37:g.3807914G>A	ENSP00000262367:p.Arg1169Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1169C	ENST00000262367.5	37	c.3505	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883701	0.51908	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.32272	1.46;1.46	5.59	5.59	0.84812	Bromodomain (6);	0.000000	0.64402	D	0.000001	T	0.52933	0.1765	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.53634	-0.8411	10	0.87932	D	0	-19.6661	14.4325	0.67259	0.0:0.0:0.8527:0.1473	.	1199;1169	Q4LE28;Q92793	.;CBP_HUMAN	C	1169;1199;1131	ENSP00000262367:R1169C;ENSP00000371502:R1131C	ENSP00000262367:R1169C	R	-	1	0	CREBBP	3747915	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.384000	0.73177	2.632000	0.89209	0.585000	0.79938	CGC	CREBBP	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000005339		0.512	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	251	0.00	0	G	NM_004380		3807914	3807914	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	108	19.40	26	SNP	1.000	A
CREBL2	1389	genome.wustl.edu	37	12	12788823	12788823	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:12788823G>A	ENST00000228865.2	+	2	409	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	43	Basic motif. {ECO:0000250}.|bZIP.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGCCGAGCCCGAAAAAAGCTG	0.463																																						dbGAP											0													56.0	59.0	58.0					12																	12788823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"""basic leucine zipper proteins"""	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.128G>A	12.37:g.12788823G>A	ENSP00000228865:p.Arg43Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM5	Missense_Mutation	SNP	pfam_bZIP_2,pfam_bZIP_1	p.R43Q	ENST00000228865.2	37	c.128	CCDS8651.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859939	0.91433	.	.	ENSG00000111269	ENST00000228865	D	0.94828	-3.53	5.62	5.62	0.85841	Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	M	0.64170	1.965	0.46317	D	0.99898	D	0.71674	0.998	D	0.76575	0.988	D	0.97096	0.9794	10	0.87932	D	0	-23.7293	19.646	0.95777	0.0:0.0:1.0:0.0	.	43	O60519	CRBL2_HUMAN	Q	43	ENSP00000228865:R43Q	ENSP00000228865:R43Q	R	+	2	0	CREBL2	12680090	1.000000	0.71417	0.985000	0.45067	0.448000	0.32197	9.368000	0.97152	2.648000	0.89879	0.484000	0.47621	CGA	CREBL2	-	pfam_bZIP_2,pfam_bZIP_1	ENSG00000111269		0.463	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBL2	HGNC	protein_coding	OTTHUMT00000400660.1	252	0.00	0	G	NM_001310		12788823	12788823	+1	no_errors	ENST00000228865	ensembl	human	known	69_37n	missense	137	18.93	32	SNP	1.000	A
CREBRF	153222	genome.wustl.edu	37	5	172513612	172513612	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:172513612G>A	ENST00000296953.2	+	3	437	c.118G>A	c.(118-120)Gat>Aat	p.D40N	CREBRF_ENST00000522692.1_Missense_Mutation_p.D40N|CREBRF_ENST00000540014.1_Missense_Mutation_p.D40N|CREBRF_ENST00000520420.1_Missense_Mutation_p.D40N	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	40					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCGGATCCAGATTTCATGTA	0.418																																						dbGAP											0													161.0	147.0	152.0					5																	172513612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.118G>A	5.37:g.172513612G>A	ENSP00000296953:p.Asp40Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.D40N	ENST00000296953.2	37	c.118	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039578	0.93630	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.77	5.77	0.91146	.	0.175542	0.53938	D	0.000056	T	0.66587	0.2804	N	0.24115	0.695	0.58432	D	0.999991	P;D	0.61697	0.844;0.99	P;P	0.58266	0.528;0.836	T	0.65772	-0.6087	10	0.42905	T	0.14	.	13.5594	0.61779	0.0711:0.0:0.9289:0.0	.	40;40	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	N	40	ENSP00000431107:D40N;ENSP00000296953:D40N;ENSP00000440075:D40N;ENSP00000428290:D40N	ENSP00000296953:D40N	D	+	1	0	C5orf41	172446218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.885000	0.99019	0.655000	0.94253	GAT	CREBRF	-	NULL	ENSG00000164463		0.418	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	255	0.00	0	G	NM_153607		172513612	172513612	+1	no_errors	ENST00000540014	ensembl	human	known	69_37n	missense	159	25.12	54	SNP	1.000	A
CREM	1390	genome.wustl.edu	37	10	35437567	35437567	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:35437567G>A	ENST00000395895.2	+	3	330				CREM_ENST00000374721.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000469949.2_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000474362.1_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						GAAAAGATACGTGTTGTAATT	0.388																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.168+148G>A	10.37:g.35437567G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	RNA	SNP	-	NULL	ENST00000395895.2	37	NULL		10																																																																																			CREM	-	-	ENSG00000095794		0.388	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		35	0.00	0	G	NM_001881		35437567	35437567	+1	no_errors	ENST00000482646	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	0.000	A
CRHBP	1393	genome.wustl.edu	37	5	76251688	76251688	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:76251688C>T	ENST00000274368.4	+	4	966	c.544C>T	c.(544-546)Cct>Tct	p.P182S	CRHBP_ENST00000506501.1_Splice_Site_p.P182S	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	182					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		CAACCTCTTTCGTAAGTGTTC	0.413																																						dbGAP											0													75.0	64.0	68.0					5																	76251688		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.544+1C>T	5.37:g.76251688C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F32|Q6FHT5	Missense_Mutation	SNP	pfam_CRF-bd,superfamily_CUB,pirsf_CRF-bd	p.P182S	ENST00000274368.4	37	c.544	CCDS4034.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621818	0.87460	.	.	ENSG00000145708	ENST00000274368;ENST00000506501	.	.	.	4.62	4.62	0.57501	CUB (1);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85251	0.1044	9	0.62326	D	0.03	-1.7925	17.6527	0.88169	0.0:1.0:0.0:0.0	.	182;182	D6RHH7;P24387	.;CRHBP_HUMAN	S	182	.	ENSP00000274368:P182S	P	+	1	0	CRHBP	76287444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.247000	0.78257	2.388000	0.81334	0.655000	0.94253	CCT	CRHBP	-	pfam_CRF-bd,superfamily_CUB,pirsf_CRF-bd	ENSG00000145708		0.413	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHBP	HGNC	protein_coding	OTTHUMT00000219972.2	97	0.00	0	C	NM_001882	Missense_Mutation	76251688	76251688	+1	no_errors	ENST00000274368	ensembl	human	known	69_37n	missense	54	21.43	15	SNP	1.000	T
CRHR2	1395	genome.wustl.edu	37	7	30702425	30702425	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:30702425G>A	ENST00000471646.1	-	6	999	c.582C>T	c.(580-582)ttC>ttT	p.F194F	CRHR2_ENST00000341843.4_Silent_p.F180F|CRHR2_ENST00000506074.2_Silent_p.F194F|CRHR2_ENST00000348438.4_Silent_p.F221F	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	194					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTCACCACGAAGTAGTTGA	0.577																																						dbGAP											0													120.0	89.0	99.0					7																	30702425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.582C>T	7.37:g.30702425G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.F221	ENST00000471646.1	37	c.663	CCDS5429.1	7																																																																																			CRHR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000106113		0.577	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	HGNC	protein_coding	OTTHUMT00000250448.3	68	0.00	0	G			30702425	30702425	-1	no_errors	ENST00000348438	ensembl	human	known	69_37n	silent	58	17.14	12	SNP	0.997	A
CRISP1	167	genome.wustl.edu	37	6	49808641	49808641	+	Missense_Mutation	SNP	C	C	T	rs267601065		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:49808641C>T	ENST00000335847.4	-	6	604	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	CRISP1_ENST00000536021.1_Missense_Mutation_p.R168Q|CRISP1_ENST00000507853.1_Missense_Mutation_p.R168Q|CRISP1_ENST00000505118.1_Missense_Mutation_p.R168Q|CRISP1_ENST00000329411.5_Missense_Mutation_p.R168Q|CRISP1_ENST00000355791.2_Missense_Mutation_p.R168Q	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	168	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.R168Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTAGAGATATCGAGGTGATCC	0.348																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											103.0	92.0	96.0					6																	49808641		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.503G>A	6.37:g.49808641C>T	ENSP00000338276:p.Arg168Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.R168Q	ENST00000335847.4	37	c.503	CCDS4931.1	6	.	.	.	.	.	.	.	.	.	.	C	9.913	1.210049	0.22289	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18	4.8	-2.5	0.06384	CAP domain (3);	2.898410	0.01360	N	0.012197	T	0.01124	0.0037	N	0.11284	0.12	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.44251	-0.9340	9	.	.	.	.	5.1795	0.15152	0.0:0.159:0.2845:0.5565	.	168;168	P54107-2;P54107	.;CRIS1_HUMAN	Q	168	ENSP00000425020:R168Q;ENSP00000338276:R168Q;ENSP00000348044:R168Q;ENSP00000331317:R168Q;ENSP00000427589:R168Q;ENSP00000441798:R168Q	.	R	-	2	0	CRISP1	49916600	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.080000	0.11339	-0.771000	0.04608	-0.812000	0.03155	CGA	CRISP1	-	pfam_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000124812		0.348	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	286	0.00	0	C	NM_001131		49808641	49808641	-1	no_errors	ENST00000335847	ensembl	human	known	69_37n	missense	132	10.20	15	SNP	0.000	T
CRISPLD1	83690	genome.wustl.edu	37	8	75929128	75929128	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:75929128C>A	ENST00000262207.4	+	8	1349	c.881C>A	c.(880-882)tCt>tAt	p.S294Y	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S108Y|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S106Y	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	294	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATTGTTTCTTGTGAAGTA	0.229																																						dbGAP											0													27.0	27.0	27.0					8																	75929128		2133	4242	6375	-	-	-	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.881C>A	8.37:g.75929128C>A	ENSP00000262207:p.Ser294Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.S294Y	ENST00000262207.4	37	c.881	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990655	0.35131	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89939	-2.59;-2.59;-2.59	4.79	4.79	0.61399	LCCL (5);	0.251585	0.41396	D	0.000885	D	0.89343	0.6688	L	0.40543	1.245	0.49687	D	0.999817	D;P	0.53885	0.963;0.808	P;B	0.51487	0.671;0.438	D	0.90630	0.4566	10	0.72032	D	0.01	.	18.3898	0.90478	0.0:1.0:0.0:0.0	.	108;294	B7Z929;Q9H336	.;CRLD1_HUMAN	Y	294;106;108	ENSP00000262207:S294Y;ENSP00000430105:S106Y;ENSP00000429746:S108Y	ENSP00000262207:S294Y	S	+	2	0	CRISPLD1	76091683	1.000000	0.71417	0.996000	0.52242	0.132000	0.20833	3.124000	0.50461	2.650000	0.89964	0.650000	0.86243	TCT	CRISPLD1	-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	ENSG00000121005		0.229	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	159	0.62	1	C	NM_031461		75929128	75929128	+1	no_errors	ENST00000262207	ensembl	human	known	69_37n	missense	65	28.57	26	SNP	1.000	A
CRMP1	1400	genome.wustl.edu	37	4	5851150	5851150	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:5851150A>G	ENST00000397890.2	-	6	804	c.590T>C	c.(589-591)gTc>gCc	p.V197A	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.V195A|CRMP1_ENST00000324989.7_Missense_Mutation_p.V311A	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	197					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTCTGCATGGACCAAGATCAC	0.403																																						dbGAP											0													95.0	89.0	91.0					4																	5851150		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.590T>C	4.37:g.5851150A>G	ENSP00000380987:p.Val197Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.V311A	ENST00000397890.2	37	c.932	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569579	0.86439	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.91351	-2.83;-2.83;-2.83	4.88	4.88	0.63580	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.64402	D	0.000001	D	0.95620	0.8576	M	0.88377	2.95	0.80722	D	1	B;D;P;D	0.89917	0.43;1.0;0.863;0.96	P;D;P;D	0.74348	0.614;0.983;0.724;0.913	D	0.96341	0.9251	10	0.87932	D	0	-22.0941	13.8298	0.63373	1.0:0.0:0.0:0.0	.	311;195;197;134	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	A	311;197;197;195	ENSP00000321606:V311A;ENSP00000380987:V197A;ENSP00000425742:V195A	ENSP00000321606:V311A	V	-	2	0	CRMP1	5902051	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.545000	0.90657	2.053000	0.61076	0.491000	0.48974	GTC	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.403	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	269	0.00	0	A	NM_001313		5851150	5851150	-1	no_errors	ENST00000324989	ensembl	human	known	69_37n	missense	145	27.50	55	SNP	1.000	G
CRNKL1	51340	genome.wustl.edu	37	20	20020423	20020423	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:20020423G>A	ENST00000377340.2	-	12	1889	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.R459*|CRNKL1_ENST00000521379.1_5'Flank|CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.R608*	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	620	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCAAATTCTCGAAGCTGTAGC	0.363																																						dbGAP											0													69.0	72.0	71.0					20																	20020423		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1858C>T	20.37:g.20020423G>A	ENSP00000366557:p.Arg620*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Nonsense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.R620*	ENST00000377340.2	37	c.1858	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.328362	0.98214	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	.	.	.	5.97	5.97	0.96955	.	0.056662	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-10.3564	15.169	0.72854	0.0:0.0:0.859:0.141	.	.	.	.	X	608;620;459	.	ENSP00000366544:R608X	R	-	1	2	CRNKL1	19968423	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.232000	0.65332	2.832000	0.97577	0.585000	0.79938	CGA	CRNKL1	-	smart_HAT	ENSG00000101343		0.363	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	129	0.00	0	G			20020423	20020423	-1	no_errors	ENST00000377340	ensembl	human	known	69_37n	nonsense	119	11.19	15	SNP	1.000	A
CRNN	49860	genome.wustl.edu	37	1	152384674	152384674	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152384674G>A	ENST00000271835.3	-	2	98	c.36C>T	c.(34-36)atC>atT	p.I12I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	12					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAAGGCCTCGATGATCCCAT	0.493																																						dbGAP											0													124.0	115.0	118.0					1																	152384674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.36C>T	1.37:g.152384674G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE60|Q8N613	Silent	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I12	ENST00000271835.3	37	c.36	CCDS1010.1	1																																																																																			CRNN	-	pfam_S100_Ca-bd_sub	ENSG00000143536		0.493	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRNN	HGNC	protein_coding	OTTHUMT00000034503.1	188	0.00	0	G	NM_016190		152384674	152384674	-1	no_errors	ENST00000271835	ensembl	human	known	69_37n	silent	85	23.89	27	SNP	0.972	A
CROT	54677	genome.wustl.edu	37	7	87027869	87027869	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:87027869C>T	ENST00000331536.3	+	18	1933	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	CROT_ENST00000419147.2_Missense_Mutation_p.S611F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	583					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.S583F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GCCTGGAAATCCTGTCCCGAG	0.403																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											139.0	124.0	129.0					7																	87027869		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1748C>T	7.37:g.87027869C>T	ENSP00000331981:p.Ser583Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.S583F	ENST00000331536.3	37	c.1748	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573818	0.86542	.	.	ENSG00000005469	ENST00000419147;ENST00000331536	D;D	0.92397	-3.03;-3.03	6.07	6.07	0.98685	.	0.057236	0.64402	D	0.000001	D	0.97517	0.9187	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.97677	1.0170	10	0.87932	D	0	-17.8293	20.6593	0.99626	0.0:1.0:0.0:0.0	.	611;583	E7EQF2;Q9UKG9	.;OCTC_HUMAN	F	611;583	ENSP00000413575:S611F;ENSP00000331981:S583F	ENSP00000331981:S583F	S	+	2	0	CROT	86865805	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.032000	0.76498	2.885000	0.99019	0.655000	0.94253	TCC	CROT	-	pfam_Carn_acyl_trans	ENSG00000005469		0.403	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	301	0.00	0	C	NM_021151		87027869	87027869	+1	no_errors	ENST00000331536	ensembl	human	known	69_37n	missense	173	23.01	52	SNP	1.000	T
CRTAM	56253	genome.wustl.edu	37	11	122738243	122738243	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:122738243C>T	ENST00000227348.4	+	8	991	c.944C>T	c.(943-945)gCa>gTa	p.A315V	CRTAM_ENST00000533709.1_Missense_Mutation_p.A116V	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGAGGAAAGCACATGTGATA	0.453																																						dbGAP											0													94.0	83.0	86.0					11																	122738243		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.944C>T	11.37:g.122738243C>T	ENSP00000227348:p.Ala315Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.A315V	ENST00000227348.4	37	c.944	CCDS8437.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050453	0.75960	.	.	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.71222	-0.55;0.47	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.83353	0.5236	M	0.70275	2.135	0.50813	D	0.999894	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.941	D	0.84664	0.0708	10	0.72032	D	0.01	.	17.155	0.86788	0.0:1.0:0.0:0.0	.	116;315	O95727-2;O95727	.;CRTAM_HUMAN	V	315;116	ENSP00000227348:A315V;ENSP00000433728:A116V	ENSP00000227348:A315V	A	+	2	0	CRTAM	122243453	1.000000	0.71417	0.969000	0.41365	0.481000	0.33189	4.801000	0.62532	2.643000	0.89663	0.655000	0.94253	GCA	CRTAM	-	NULL	ENSG00000109943		0.453	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAM	HGNC	protein_coding	OTTHUMT00000387507.1	124	0.00	0	C	NM_019604		122738243	122738243	+1	no_errors	ENST00000227348	ensembl	human	known	69_37n	missense	136	13.29	21	SNP	1.000	T
CRX	1406	genome.wustl.edu	37	19	48342922	48342922	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:48342922G>A	ENST00000221996.7	+	4	804	c.598G>A	c.(598-600)Gct>Act	p.A200T	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.A200T	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	200					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCCGGCCTCCGCTTTCTGCTC	0.677																																					Pancreas(57;461 1196 22201 40716 47188)	dbGAP											0													64.0	68.0	67.0					19																	48342922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.598G>A	19.37:g.48342922G>A	ENSP00000221996:p.Ala200Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0QD45	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A200T	ENST00000221996.7	37	c.598	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555509	0.65425	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.86627	-2.15;-2.15	4.26	4.26	0.50523	Transcription factor Otx, C-terminal (1);	0.134314	0.48767	D	0.000178	D	0.89480	0.6727	L	0.47016	1.485	0.48185	D	0.9996	D	0.76494	0.999	D	0.66979	0.948	D	0.86917	0.2064	10	0.21540	T	0.41	-5.3159	14.1853	0.65601	0.0:0.0:1.0:0.0	.	200	O43186	CRX_HUMAN	T	200	ENSP00000221996:A200T;ENSP00000445565:A200T	ENSP00000221996:A200T	A	+	1	0	CRX	53034734	1.000000	0.71417	0.353000	0.25747	0.297000	0.27493	4.994000	0.63901	1.915000	0.55452	0.467000	0.42956	GCT	CRX	-	pfam_Otx_TF_C	ENSG00000105392		0.677	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	146	0.00	0	G	NM_000554		48342922	48342922	+1	no_errors	ENST00000221996	ensembl	human	known	69_37n	missense	129	15.48	24	SNP	0.997	A
CRYBB3	1417	genome.wustl.edu	37	22	25603143	25603143	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:25603143G>T	ENST00000215855.2	+	6	680	c.600G>T	c.(598-600)caG>caT	p.Q200H	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	200	C-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						TCCGTGACCAGAAGTGGCACA	0.662																																						dbGAP											0													26.0	29.0	28.0					22																	25603143		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.600G>T	22.37:g.25603143G>T	ENSP00000215855:p.Gln200His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.Q200H	ENST00000215855.2	37	c.600	CCDS13830.1	22	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326402	0.60743	.	.	ENSG00000100053	ENST00000215855	T	0.75154	-0.91	4.87	3.76	0.43208	Beta/gamma crystallin (1);	0.228630	0.41001	D	0.000977	T	0.66509	0.2796	L	0.34521	1.04	0.80722	D	1	P	0.38300	0.626	B	0.39068	0.289	T	0.72571	-0.4253	10	0.59425	D	0.04	.	15.5104	0.75776	0.0:0.1518:0.8482:0.0	.	200	P26998	CRBB3_HUMAN	H	200	ENSP00000215855:Q200H	ENSP00000215855:Q200H	Q	+	3	2	CRYBB3	23933143	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.941000	0.75922	2.223000	0.72356	0.561000	0.74099	CAG	CRYBB3	-	NULL	ENSG00000100053		0.662	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB3	HGNC	protein_coding	OTTHUMT00000320352.1	26	0.00	0	G	NM_004076		25603143	25603143	+1	no_errors	ENST00000215855	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	T
CRYBG3	131544	genome.wustl.edu	37	3	97599945	97599945	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97599945G>A	ENST00000182096.4	+	4	1254	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2345							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCACATTTCCGAGGTCAGAAA	0.353																																						dbGAP											0													62.0	62.0	62.0					3																	97599945		1822	4073	5895	-	-	-	SO:0001583	missense	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1190G>A	3.37:g.97599945G>A	ENSP00000182096:p.Arg397Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R397Q	ENST00000182096.4	37	c.1190		3	.	.	.	.	.	.	.	.	.	.	G	4.686	0.127520	0.08981	.	.	ENSG00000080200	ENST00000182096	T	0.76578	-1.03	5.04	2.67	0.31697	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.788213	0.11823	N	0.526021	T	0.52789	0.1756	N	0.10945	0.07	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.44922	-0.9296	10	0.05351	T	0.99	.	7.4496	0.27231	0.8234:0.0:0.1766:0.0	.	397	Q68DQ2	CRBG3_HUMAN	Q	397	ENSP00000182096:R397Q	ENSP00000182096:R397Q	R	+	2	0	CRYBG3	99082635	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.309000	0.51903	0.884000	0.36064	-0.312000	0.09012	CGA	CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000080200		0.353	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	208	0.00	0	G	NM_153605		97599945	97599945	+1	no_errors	ENST00000182096	ensembl	human	known	69_37n	missense	154	14.44	26	SNP	1.000	A
CRYBG3	131544	genome.wustl.edu	37	3	97614824	97614824	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97614824A>G	ENST00000182096.4	+	9	1816	c.1752A>G	c.(1750-1752)gaA>gaG	p.E584E		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2532							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATGAAAAAGAACATTTTAAAG	0.393																																						dbGAP											0													135.0	124.0	127.0					3																	97614824		1828	4072	5900	-	-	-	SO:0001819	synonymous_variant	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1752A>G	3.37:g.97614824A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E584	ENST00000182096.4	37	c.1752		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000080200		0.393	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	430	0.00	0	A	NM_153605		97614824	97614824	+1	no_errors	ENST00000182096	ensembl	human	known	69_37n	silent	219	14.06	36	SNP	1.000	G
CRYZ	1429	genome.wustl.edu	37	1	75172902	75172902	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:75172902G>T	ENST00000340866.5	-	7	718				CRYZ_ENST00000370871.3_Intron|CRYZ_ENST00000370872.3_Intron|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000417775.1_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)						protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	TATAATAAAAGAGAAATGTAG	0.259																																						dbGAP											0													36.0	43.0	41.0					1																	75172902		2157	4257	6414	-	-	-	SO:0001627	intron_variant	0				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.631-14C>A	1.37:g.75172902G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	RNA	SNP	-	NULL	ENST00000340866.5	37	NULL	CCDS665.1	1																																																																																			CRYZ	-	-	ENSG00000116791		0.259	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1	143	0.00	0	G			75172902	75172902	-1	no_errors	ENST00000492102	ensembl	human	known	69_37n	rna	76	14.61	13	SNP	0.068	T
CSAG1	158511	genome.wustl.edu	37	X	151908883	151908883	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:151908883G>A	ENST00000370287.3	+	4	450	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSAG1_ENST00000452779.2_Missense_Mutation_p.R41Q|CSAG1_ENST00000370291.2_Missense_Mutation_p.R41Q	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	41										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAACCACGAGCCTCCAGC	0.562																																						dbGAP											0													248.0	224.0	232.0					X																	151908883		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.122G>A	X.37:g.151908883G>A	ENSP00000359310:p.Arg41Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE22	Missense_Mutation	SNP	NULL	p.R41Q	ENST00000370287.3	37	c.122	CCDS14711.1	X	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857721	0.17178	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.59083	0.96;0.96;0.29	0.903	-0.442	0.12253	.	.	.	.	.	T	0.39332	0.1074	.	.	.	0.09310	N	1	B	0.23854	0.092	B	0.12156	0.007	T	0.32052	-0.9921	8	0.87932	D	0	.	2.8641	0.05595	0.593:0.0:0.407:0.0	.	41	Q6PB30	CSAG1_HUMAN	Q	41	ENSP00000359310:R41Q;ENSP00000396520:R41Q;ENSP00000359314:R41Q	ENSP00000359310:R41Q	R	+	2	0	CSAG1	151659539	0.004000	0.15560	0.015000	0.15790	0.119000	0.20118	-0.113000	0.10774	-0.192000	0.10432	0.284000	0.19432	CGA	CSAG1	-	NULL	ENSG00000198930		0.562	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSAG1	HGNC	protein_coding	OTTHUMT00000058760.2	1080	0.09	1	G	NM_153479		151908883	151908883	+1	no_errors	ENST00000370287	ensembl	human	known	69_37n	missense	781	14.14	129	SNP	0.015	A
CSGALNACT2	55454	genome.wustl.edu	37	10	43651251	43651251	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:43651251C>T	ENST00000374466.3	+	2	989	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CSGALNACT2_ENST00000374464.1_Silent_p.F218F	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	218					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.F218F(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAATGACTTCGTAGAAGGTA	0.353																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											35.0	36.0	36.0					10																	43651251		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.654C>T	10.37:g.43651251C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	pfam_Chond_GalNAc	p.F218	ENST00000374466.3	37	c.654	CCDS7201.1	10																																																																																			CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.353	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	37	0.00	0	C	NM_018590		43651251	43651251	+1	no_errors	ENST00000374466	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.720	T
CSGALNACT2	55454	genome.wustl.edu	37	10	43659456	43659456	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:43659456G>A	ENST00000374466.3	+	5	1458	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	375					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTCTCAGCCGAATTCCTTAA	0.438																																						dbGAP											0													170.0	173.0	172.0					10																	43659456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1123G>A	10.37:g.43659456G>A	ENSP00000363590:p.Glu375Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.E375K	ENST00000374466.3	37	c.1123	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.420589	0.96111	.	.	ENSG00000169826	ENST00000374466	T	0.35421	1.31	5.97	5.97	0.96955	.	0.091907	0.85682	D	0.000000	T	0.39627	0.1085	L	0.39633	1.23	0.80722	D	1	D	0.54601	0.967	P	0.46253	0.509	T	0.03651	-1.1016	10	0.34782	T	0.22	-20.5012	20.4135	0.99023	0.0:0.0:1.0:0.0	.	375	Q8N6G5	CGAT2_HUMAN	K	375	ENSP00000363590:E375K	ENSP00000363590:E375K	E	+	1	0	CSGALNACT2	42979462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.835000	0.97688	0.591000	0.81541	GAA	CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.438	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	779	0.13	1	G	NM_018590		43659456	43659456	+1	no_errors	ENST00000374466	ensembl	human	known	69_37n	missense	448	26.30	162	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	2823407	2823407	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:2823407T>G	ENST00000520002.1	-	60	9728	c.9173A>C	c.(9172-9174)aAg>aCg	p.K3058T	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.K3058T|CSMD1_ENST00000537824.1_Missense_Mutation_p.K3057T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3058	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTCACAGTCTTGTTGAAGGT	0.483																																						dbGAP											0													111.0	112.0	111.0					8																	2823407		2070	4213	6283	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9173A>C	8.37:g.2823407T>G	ENSP00000430733:p.Lys3058Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.K3058T	ENST00000520002.1	37	c.9173		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.117|9.117	1.008031|1.008031	0.19199|0.19199	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824|ENST00000335551	T;T|.	0.62364|.	0.03;0.03|.	5.42|5.42	1.61|1.61	0.23674|0.23674	Complement control module (2);Sushi/SCR/CCP (3);|.	0.218628|.	0.38897|.	N|.	0.001522|.	T|T	0.49270|0.49270	0.1547|0.1547	L|L	0.33339|0.33339	1.005|1.005	0.80722|0.80722	D|D	1|1	P;B|.	0.36354|.	0.549;0.016|.	B;B|.	0.36959|.	0.237;0.158|.	T|T	0.23583|0.23583	-1.0184|-1.0184	10|5	0.13108|.	T|.	0.6|.	.|.	9.6631|9.6631	0.39967|0.39967	0.0:0.2024:0.0:0.7976|0.0:0.2024:0.0:0.7976	.|.	3058;3058|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	T|H	3058;2919;3057|2474	ENSP00000430733:K3058T;ENSP00000441462:K3057T|.	ENSP00000320445:K2919T|.	K|Q	-|-	2|3	0|2	CSMD1|CSMD1	2810814|2810814	1.000000|1.000000	0.71417|0.71417	0.912000|0.912000	0.35992|0.35992	0.031000|0.031000	0.12232|0.12232	3.313000|3.313000	0.51935|0.51935	0.033000|0.033000	0.15463|0.15463	-0.274000|-0.274000	0.10170|0.10170	AAG|CAA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	206	0.00	0	T	NM_033225		2823407	2823407	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	146	14.12	24	SNP	1.000	G
CSMD1	64478	genome.wustl.edu	37	8	2944719	2944719	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:2944719A>C	ENST00000520002.1	-	50	7932	c.7377T>G	c.(7375-7377)ttT>ttG	p.F2459L	CSMD1_ENST00000602723.1_Missense_Mutation_p.F2459L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F2459L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F2458L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2459L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F2458L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2459	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGCTTGCAAAAATAATGCA	0.542																																						dbGAP											0													118.0	118.0	118.0					8																	2944719		2001	4179	6180	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7377T>G	8.37:g.2944719A>C	ENSP00000430733:p.Phe2459Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F2459L	ENST00000520002.1	37	c.7377		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.507|2.507	-0.313897|-0.313897	0.05422|0.05422	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01|.	5.57|5.57	-6.91|-6.91	0.01649|0.01649	Complement control module (2);Sushi/SCR/CCP (3);|.	0.156959|.	0.42420|.	D|.	0.000707|.	T|T	0.58864|0.58864	0.2152|0.2152	L|L	0.38838|0.38838	1.175|1.175	0.80722|0.80722	D|D	1|1	B;B;B|.	0.29378|.	0.042;0.009;0.243|.	B;B;B|.	0.38985|.	0.061;0.045;0.287|.	T|T	0.58836|0.58836	-0.7566|-0.7566	10|5	0.12103|.	T|.	0.63|.	.|.	20.0279|20.0279	0.97529|0.97529	0.304:0.0:0.696:0.0|0.304:0.0:0.696:0.0	.|.	2459;2459;2458|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	L|V	2459;2459;2320;2458;2458|1876	ENSP00000383047:F2459L;ENSP00000430733:F2459L;ENSP00000441462:F2458L;ENSP00000446243:F2458L|.	ENSP00000320445:F2320L|.	F|L	-|-	3|1	2|2	CSMD1|CSMD1	2932126|2932126	0.013000|0.013000	0.17824|0.17824	0.037000|0.037000	0.18230|0.18230	0.060000|0.060000	0.15804|0.15804	-0.161000|-0.161000	0.10026|0.10026	-1.758000|-1.758000	0.01315|0.01315	-0.464000|-0.464000	0.05259|0.05259	TTT|TTG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	113	0.00	0	A	NM_033225		2944719	2944719	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	80	14.89	14	SNP	0.012	C
CSMD1	64478	genome.wustl.edu	37	8	2967778	2967778	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:2967778C>A	ENST00000520002.1	-	44	7068	c.6513G>T	c.(6511-6513)aaG>aaT	p.K2171N	CSMD1_ENST00000602723.1_Missense_Mutation_p.K2171N|CSMD1_ENST00000400186.3_Missense_Mutation_p.K2171N|CSMD1_ENST00000542608.1_Missense_Mutation_p.K2170N|CSMD1_ENST00000602557.1_Missense_Mutation_p.K2171N|CSMD1_ENST00000537824.1_Missense_Mutation_p.K2170N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2171	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATGCAGTCCTTCAGGATCG	0.498																																						dbGAP											0													92.0	93.0	93.0					8																	2967778		1949	4155	6104	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6513G>T	8.37:g.2967778C>A	ENSP00000430733:p.Lys2171Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G1651*	ENST00000520002.1	37	c.4951		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.99|11.99	1.802129|1.802129	0.31869|0.31869	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.19250	.|2.16;2.16;2.16;2.16	5.2|5.2	3.36|3.36	0.38483|0.38483	.|CUB (5);	.|0.066272	.|0.64402	.|D	.|0.000011	.|T	.|0.37183	.|0.0994	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.69078	.|0.997;0.578;0.837	.|D;P;P	.|0.80764	.|0.994;0.593;0.535	.|T	.|0.02560	.|-1.1141	.|10	.|0.33940	.|T	.|0.23	.|.	12.5864|12.5864	0.56421|0.56421	0.0:0.7974:0.0:0.2026|0.0:0.7974:0.0:0.2026	.|.	.|2171;2171;2170	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	X|N	1651|2171;2171;2032;2170;2170	.|ENSP00000383047:K2171N;ENSP00000430733:K2171N;ENSP00000441462:K2170N;ENSP00000446243:K2170N	.|ENSP00000320445:K2032N	G|K	-|-	1|3	0|2	CSMD1|CSMD1	2955185|2955185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.039000|0.039000	0.13416|0.13416	1.087000|1.087000	0.30865|0.30865	0.695000|0.695000	0.31675|0.31675	-1.685000|-1.685000	0.00733|0.00733	GGA|AAG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	196	0.00	0	C	NM_033225		2967778	2967778	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	nonsense	182	23.85	57	SNP	0.997	A
CSMD1	64478	genome.wustl.edu	37	8	3265491	3265491	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:3265491C>T	ENST00000520002.1	-	15	2559	c.2004G>A	c.(2002-2004)ggG>ggA	p.G668G	CSMD1_ENST00000602723.1_Silent_p.G668G|CSMD1_ENST00000539096.1_Silent_p.G667G|CSMD1_ENST00000400186.3_Silent_p.G668G|CSMD1_ENST00000542608.1_Silent_p.G667G|CSMD1_ENST00000602557.1_Silent_p.G668G|CSMD1_ENST00000537824.1_Silent_p.G667G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	668	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAACTATATGCCCACTGCTGG	0.483																																						dbGAP											0													77.0	72.0	74.0					8																	3265491		1959	4155	6114	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2004G>A	8.37:g.3265491C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.A148T	ENST00000520002.1	37	c.442		8	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130565	0.08981	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.23	-8.51	0.00923	.	.	.	.	.	T	0.33527	0.0866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38950	-0.9637	4	.	.	.	.	1.1599	0.01803	0.1822:0.3024:0.1901:0.3252	.	.	.	.	T	148	.	.	A	-	1	0	CSMD1	3252898	0.000000	0.05858	0.043000	0.18650	0.710000	0.40934	-3.405000	0.00482	-1.911000	0.01082	-1.583000	0.00853	GCA	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	342	0.00	0	C	NM_033225		3265491	3265491	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000335551	ensembl	human	novel	69_37n	missense	263	16.46	52	SNP	0.002	T
CSMD3	114788	genome.wustl.edu	37	8	113314091	113314091	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:113314091G>A	ENST00000297405.5	-	53	8615	c.8371C>T	c.(8371-8373)Ctt>Ttt	p.L2791F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L2721F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2751F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2622F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2791	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGCCCACAAGCATGAATCCC	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													130.0	130.0	130.0					8																	113314091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8371C>T	8.37:g.113314091G>A	ENSP00000297405:p.Leu2791Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2791F	ENST00000297405.5	37	c.8371	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301209	0.81136	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.62	5.62	0.85841	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000016	D	0.87406	0.6169	M	0.93978	3.48	0.49687	D	0.999817	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	D	0.89477	0.3747	10	0.66056	D	0.02	.	13.2653	0.60131	0.0727:0.0:0.9273:0.0	.	2622;2791;2751	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2751;2791;2061;2622;2721	ENSP00000345799:L2751F;ENSP00000297405:L2791F;ENSP00000341558:L2061F;ENSP00000412263:L2622F;ENSP00000343124:L2721F	ENSP00000297405:L2791F	L	-	1	0	CSMD3	113383267	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.402000	0.52608	2.809000	0.96659	0.655000	0.94253	CTT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	546	0.00	0	G	NM_052900		113314091	113314091	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	272	23.31	83	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113323300	113323300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:113323300G>A	ENST00000297405.5	-	50	8036	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2528*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2558*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.R2494*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2598	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGGAATCCTCGATCACAGGCC	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													163.0	132.0	143.0					8																	113323300		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7792C>T	8.37:g.113323300G>A	ENSP00000297405:p.Arg2598*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R2598*	ENST00000297405.5	37	c.7792	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	49	15.612859	0.99839	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6956	0.77494	0.0:0.0:0.8619:0.1381	.	.	.	.	X	2558;2598;1868;2494;2528	.	ENSP00000297405:R2598X	R	-	1	2	CSMD3	113392476	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	2.769000	0.47654	1.316000	0.45131	0.655000	0.94253	CGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.493	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	232	0.00	0	G	NM_052900		113323300	113323300	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	nonsense	109	14.73	19	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113418791	113418791	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:113418791G>T	ENST00000297405.5	-	35	6015	c.5771C>A	c.(5770-5772)tCt>tAt	p.S1924Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1854Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1884Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1820Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1924	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGGCCAAAGAATTGGGCAC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													98.0	98.0	98.0					8																	113418791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5771C>A	8.37:g.113418791G>T	ENSP00000297405:p.Ser1924Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S1924Y	ENST00000297405.5	37	c.5771	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745819	0.69418	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.8	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.273852	0.28964	N	0.013561	T	0.36853	0.0982	L	0.36672	1.1	0.39192	D	0.962989	P;P;P	0.50617	0.937;0.708;0.738	P;P;P	0.55222	0.771;0.507;0.5	T	0.19582	-1.0301	10	0.59425	D	0.04	.	18.4015	0.90518	0.0:0.0:1.0:0.0	.	1820;1924;1884	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1884;1924;1194;1820;1854	ENSP00000345799:S1884Y;ENSP00000297405:S1924Y;ENSP00000341558:S1194Y;ENSP00000412263:S1820Y;ENSP00000343124:S1854Y	ENSP00000297405:S1924Y	S	-	2	0	CSMD3	113487967	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	6.184000	0.72008	2.652000	0.90054	0.655000	0.94253	TCT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	206	0.00	0	G	NM_052900		113418791	113418791	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	98	30.99	44	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113960037	113960037	+	Missense_Mutation	SNP	C	C	T	rs144548295	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:113960037C>T	ENST00000297405.5	-	9	1734	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K	CSMD3_ENST00000352409.3_Missense_Mutation_p.R497K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R457K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R393K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	497	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATCCGATTCTCTTCCCATT	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													82.0	83.0	83.0					8																	113960037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1490G>A	8.37:g.113960037C>T	ENSP00000297405:p.Arg497Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R497K	ENST00000297405.5	37	c.1490	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010904	0.75046	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.74298	0.3698	L	0.48986	1.54	0.34255	D	0.679232	D;D;P	0.61697	0.989;0.99;0.854	D;D;P	0.83275	0.963;0.996;0.664	T	0.74979	-0.3479	10	0.22109	T	0.4	.	18.866	0.92292	0.0:1.0:0.0:0.0	.	393;497;457	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	457;497;393;497	ENSP00000345799:R457K;ENSP00000297405:R497K;ENSP00000412263:R393K;ENSP00000343124:R497K	ENSP00000297405:R497K	R	-	2	0	CSMD3	114029213	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	4.215000	0.58534	2.537000	0.85549	0.555000	0.69702	AGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	403	0.00	0	C	NM_052900		113960037	113960037	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	238	17.93	52	SNP	1.000	T
CSNK1A1	1452	genome.wustl.edu	37	5	148930500	148930500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:148930500C>A	ENST00000377843.2	-	1	507	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	CSNK1A1_ENST00000515748.2_Nonsense_Mutation_p.E10*|CSNK1A1_ENST00000515768.1_Nonsense_Mutation_p.E10*|CSNK1A1_ENST00000504676.1_5'Flank|CSNK1A1_ENST00000515435.1_5'Flank|CSNK1A1_ENST00000261798.5_Nonsense_Mutation_p.E10*	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	10					cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACAATGAATTCAGCCTTGGAG	0.577																																					Colon(5;64 69 1309 10383)	dbGAP											0													86.0	94.0	92.0					5																	148930500		2091	4261	6352	-	-	-	SO:0001587	stop_gained	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.28G>T	5.37:g.148930500C>A	ENSP00000367074:p.Glu10*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E10*	ENST00000377843.2	37	c.28	CCDS47303.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.578364	0.98870	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	.	.	.	5.31	4.44	0.53790	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0273	0.64592	0.0:0.9278:0.0:0.0722	.	.	.	.	X	10	.	ENSP00000261798:E10X	E	-	1	0	CSNK1A1	148910693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.390000	0.79816	1.471000	0.48121	0.561000	0.74099	GAA	CSNK1A1	-	NULL	ENSG00000113712		0.577	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		74	0.00	0	C	NM_001892		148930500	148930500	-1	no_errors	ENST00000515768	ensembl	human	known	69_37n	nonsense	46	51.06	48	SNP	1.000	A
CSNK1A1L	122011	genome.wustl.edu	37	13	37678473	37678473	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:37678473C>T	ENST00000379800.3	-	1	1330	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	307					cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGGCTGCCTGCTGTGCTGCTT	0.458																																						dbGAP											0													164.0	154.0	158.0					13																	37678473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.921G>A	13.37:g.37678473C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2N2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q307	ENST00000379800.3	37	c.921	CCDS9363.1	13																																																																																			CSNK1A1L	-	NULL	ENSG00000180138		0.458	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	433	0.00	0	C	NM_145203		37678473	37678473	-1	no_errors	ENST00000379800	ensembl	human	known	69_37n	silent	283	16.96	58	SNP	1.000	T
CSNK1A1L	122011	genome.wustl.edu	37	13	37678550	37678550	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:37678550G>A	ENST00000379800.3	-	1	1253	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAAAGAATGCGGAATAGCTGC	0.483																																						dbGAP											0													167.0	154.0	158.0					13																	37678550		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.844C>T	13.37:g.37678550G>A	ENSP00000369126:p.Arg282Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2N2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R282C	ENST00000379800.3	37	c.844	CCDS9363.1	13	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585744	0.46110	.	.	ENSG00000180138	ENST00000379800	T	0.10382	2.88	1.73	1.73	0.24493	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	H	0.97758	4.07	0.80722	D	1	P	0.40250	0.709	B	0.30782	0.12	T	0.37549	-0.9701	10	0.87932	D	0	.	9.4125	0.38500	0.0:0.0:1.0:0.0	.	282	Q8N752	KC1AL_HUMAN	C	282	ENSP00000369126:R282C	ENSP00000369126:R282C	R	-	1	0	CSNK1A1L	36576550	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.437000	0.44828	0.866000	0.35629	0.555000	0.69702	CGC	CSNK1A1L	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000180138		0.483	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	365	0.00	0	G	NM_145203		37678550	37678550	-1	no_errors	ENST00000379800	ensembl	human	known	69_37n	missense	203	27.76	78	SNP	1.000	A
CSRP2BP	57325	genome.wustl.edu	37	20	18123425	18123425	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:18123425G>A	ENST00000435364.3	+	1	462	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	CSRP2BP_ENST00000489634.2_5'Flank|PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.E41K	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	41					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCTGATCGTCGAATCCGAGGA	0.547																																						dbGAP											0													187.0	131.0	150.0					20																	18123425		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.121G>A	20.37:g.18123425G>A	ENSP00000392318:p.Glu41Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E41K	ENST00000435364.3	37	c.121	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697284	0.68386	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.17213	2.29;2.29;2.29	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.00768	-1.1574	10	0.35671	T	0.21	-16.0125	19.6275	0.95684	0.0:0.0:1.0:0.0	.	41	Q9H8E8	CSR2B_HUMAN	K	41	ENSP00000278816:E41K;ENSP00000366909:E41K;ENSP00000392318:E41K	ENSP00000278816:E41K	E	+	1	0	CSRP2BP	18071425	1.000000	0.71417	0.086000	0.20670	0.004000	0.04260	9.159000	0.94728	2.723000	0.93209	0.563000	0.77884	GAA	CSRP2BP	-	NULL	ENSG00000149474		0.547	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	202	0.00	0	G	NM_020536		18123425	18123425	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	140	27.55	54	SNP	0.994	A
CST11	140880	genome.wustl.edu	37	20	23431198	23431198	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:23431198G>T	ENST00000377009.3	-	3	395	c.362C>A	c.(361-363)gCt>gAt	p.A121D	CST11_ENST00000377007.3_Missense_Mutation_p.A86D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	121					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCAGGGTACAGCAAACACTGA	0.413																																						dbGAP											0													98.0	84.0	89.0					20																	23431198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.362C>A	20.37:g.23431198G>T	ENSP00000366208:p.Ala121Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.A121D	ENST00000377009.3	37	c.362	CCDS13155.1	20	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553605	0.27739	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.26660	1.72;2.1	3.86	-6.48	0.01896	Proteinase inhibitor I25, cystatin (2);	1.347440	0.04727	N	0.420471	T	0.34803	0.0910	M	0.66939	2.045	0.09310	N	1	P;D	0.55172	0.615;0.97	B;P	0.56563	0.187;0.801	T	0.50242	-0.8851	10	0.72032	D	0.01	-17.0018	3.1454	0.06469	0.223:0.146:0.4869:0.1442	.	86;121	Q9H112-2;Q9H112	.;CST11_HUMAN	D	121;86	ENSP00000366208:A121D;ENSP00000366206:A86D	ENSP00000366206:A86D	A	-	2	0	CST11	23379198	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.917000	0.04025	-1.319000	0.02286	0.555000	0.69702	GCT	CST11	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000125831		0.413	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST11	HGNC	protein_coding	OTTHUMT00000078314.1	509	0.00	0	G	NM_130794		23431198	23431198	-1	no_errors	ENST00000377009	ensembl	human	known	69_37n	missense	439	15.74	82	SNP	0.000	T
CST3	1471	genome.wustl.edu	37	20	23615981	23615981	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:23615981G>T	ENST00000398411.1	-	2	349	c.267C>A	c.(265-267)ttC>ttA	p.F89L	CST3_ENST00000376925.3_Missense_Mutation_p.F89L|CST3_ENST00000398409.1_Missense_Mutation_p.F89L			P01034	CYTC_HUMAN	cystatin C	89					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCACGTCCAAGAAGTAGTTCA	0.537																																						dbGAP											0													156.0	120.0	132.0					20																	23615981		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.267C>A	20.37:g.23615981G>T	ENSP00000381448:p.Phe89Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5J9|D3DW42|Q6FGW9	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.F89L	ENST00000398411.1	37	c.267	CCDS13158.1	20	.	.	.	.	.	.	.	.	.	.	G	8.201	0.798217	0.16397	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	T;T;T	0.27720	1.65;1.65;1.65	4.08	0.223	0.15292	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.655518	0.13977	U	0.349779	T	0.21267	0.0512	L	0.45228	1.405	0.09310	N	1	B	0.33883	0.43	B	0.36666	0.23	T	0.14783	-1.0460	10	0.30078	T	0.28	.	2.7914	0.05389	0.3496:0.2452:0.4051:0.0	.	89	P01034	CYTC_HUMAN	L	89	ENSP00000381448:F89L;ENSP00000366124:F89L;ENSP00000381446:F89L	ENSP00000366124:F89L	F	-	3	2	CST3	23563981	0.012000	0.17670	0.079000	0.20413	0.036000	0.12997	0.174000	0.16743	0.272000	0.22027	-0.494000	0.04653	TTC	CST3	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000101439		0.537	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CST3	HGNC	protein_coding	OTTHUMT00000256831.1	89	0.00	0	G	NM_000099		23615981	23615981	-1	no_errors	ENST00000376925	ensembl	human	known	69_37n	missense	32	36.00	18	SNP	0.125	T
CSTF2T	23283	genome.wustl.edu	37	10	53458304	53458304	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:53458304C>A	ENST00000331173.4	-	1	1051	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	336	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CCACGTGGGTCATTTGGAGCA	0.577																																						dbGAP											0													64.0	60.0	62.0					10																	53458304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.1006G>T	10.37:g.53458304C>A	ENSP00000332444:p.Asp336Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D336Y	ENST00000331173.4	37	c.1006	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819107	0.71028	.	.	ENSG00000177613	ENST00000331173	T	0.37411	1.2	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.57814	0.2079	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59600	-0.7424	10	0.72032	D	0.01	-10.4158	15.9759	0.80063	0.0:1.0:0.0:0.0	.	336	Q9H0L4	CSTFT_HUMAN	Y	336	ENSP00000332444:D336Y	ENSP00000332444:D336Y	D	-	1	0	CSTF2T	53128310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.768000	0.62293	2.719000	0.93026	0.655000	0.94253	GAC	CSTF2T	-	NULL	ENSG00000177613		0.577	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	91	0.00	0	C	NM_015235		53458304	53458304	-1	no_errors	ENST00000331173	ensembl	human	known	69_37n	missense	58	12.12	8	SNP	1.000	A
CTAGE1	64693	genome.wustl.edu	37	18	19995755	19995755	+	5'Flank	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:19995755G>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.P674T			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GTATCTACTGGAAACAATAAA	0.483																																						dbGAP											0													95.0	104.0	101.0					18																	19995755		2201	4293	6494	-	-	-	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995755G>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ3	Missense_Mutation	SNP	NULL	p.P674T	ENST00000525417.1	37	c.2020		18	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484290	0.26598	.	.	ENSG00000212710	ENST00000391403	T	0.15834	2.39	0.614	0.614	0.17603	.	.	.	.	.	T	0.36826	0.0981	M	0.79805	2.47	0.09310	N	1	D	0.61697	0.99	D	0.64237	0.923	T	0.09122	-1.0689	7	.	.	.	.	.	.	.	.	674	Q96RT6	CTGE2_HUMAN	T	674	ENSP00000375220:P674T	.	P	-	1	0	CTAGE1	18249753	0.968000	0.33430	0.048000	0.18961	0.011000	0.07611	2.680000	0.46918	0.581000	0.29539	0.298000	0.19748	CCA	CTAGE1	-	NULL	ENSG00000212710		0.483	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	187	0.00	0	G	NM_022663, NM_172241		19995755	19995755	-1	no_errors	ENST00000391403	ensembl	human	known	69_37n	missense	154	14.44	26	SNP	0.099	T
CTAGE5	4253	genome.wustl.edu	37	14	39796074	39796074	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:39796074G>A	ENST00000280083.3	+	20	1993	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	CTAGE5_ENST00000341749.3_Missense_Mutation_p.R548Q|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R560Q|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R531Q|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R480Q|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R531Q|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R485Q|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R517Q|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R531Q|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R565Q|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R1095Q			O15320	CTGE5_HUMAN	CTAGE family, member 5	560	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTAGGCTCACGAGGCCCAGGG	0.373																																						dbGAP											0													88.0	85.0	86.0					14																	39796074		2203	4300	6503	-	-	-	SO:0001583	missense	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1679G>A	14.37:g.39796074G>A	ENSP00000280083:p.Arg560Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.R565Q	ENST00000280083.3	37	c.1694	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911272	0.92178	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.71698	2.94;2.81;2.8;2.83;3.14;-0.59;3.13;-0.59;-0.56;2.83	5.63	5.63	0.86233	.	.	.	.	.	D	0.84275	0.5436	M	0.81682	2.555	0.51012	D	0.999905	D;D;D;D;D;D	0.71674	0.998;0.992;0.984;0.992;0.992;0.992	D;D;P;D;P;D	0.66497	0.944;0.919;0.754;0.919;0.754;0.919	D	0.84332	0.0522	8	.	.	.	.	18.2374	0.89954	0.0:0.0:1.0:0.0	.	522;565;517;560;488;548	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	Q	1095;548;480;522;531;560;565;560;485;517;531	ENSP00000452252:R1095Q;ENSP00000343897:R548Q;ENSP00000450869:R480Q;ENSP00000379468:R531Q;ENSP00000339286:R560Q;ENSP00000379462:R565Q;ENSP00000280083:R560Q;ENSP00000452562:R485Q;ENSP00000343912:R517Q;ENSP00000450449:R531Q	.	R	+	2	0	CTAGE5;RP11-407N17.3	38865825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.245000	0.72398	2.826000	0.97356	0.655000	0.94253	CGA	CTAGE5	-	NULL	ENSG00000150527		0.373	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	527	0.00	0	G	NM_005930		39796074	39796074	+1	no_errors	ENST00000396158	ensembl	human	known	69_37n	missense	444	15.91	84	SNP	1.000	A
CTBP1	1487	genome.wustl.edu	37	4	1244514	1244514	+	5'Flank	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:1244514G>A	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGAGTCCCAGGCACTCCATCC	0.602																																						dbGAP											0													75.0	77.0	76.0					4																	1244514		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1244514G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS1	-	-	ENSG00000196810		0.602	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS1	HGNC	protein_coding	OTTHUMT00000202938.1	33	0.00	0	G	NM_001328		1244514	1244514	+1	no_errors	ENST00000357591	ensembl	human	known	69_37n	rna	25	18.75	6	SNP	0.000	A
CTBP1	1487	genome.wustl.edu	37	4	1244595	1244595	+	5'Flank	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:1244595C>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGAGGAATTCCTGGCTCCCG	0.567																																						dbGAP											0													61.0	65.0	64.0					4																	1244595		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1244595C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS1	-	-	ENSG00000196810		0.567	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS1	HGNC	protein_coding	OTTHUMT00000202938.1	41	0.00	0	C	NM_001328		1244595	1244595	+1	no_errors	ENST00000357591	ensembl	human	known	69_37n	rna	22	24.14	7	SNP	0.000	T
CTDSPL2	51496	genome.wustl.edu	37	15	44751376	44751376	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:44751376T>G	ENST00000260327.4	+	2	727	c.164T>G	c.(163-165)tTt>tGt	p.F55C	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.F55C|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.F55C|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.F55C	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	55							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ATTAAAAAATTTATTAAAGGA	0.393																																						dbGAP											0													60.0	68.0	65.0					15																	44751376		2197	4298	6495	-	-	-	SO:0001583	missense	0			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.164T>G	15.37:g.44751376T>G	ENSP00000260327:p.Phe55Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.F55C	ENST00000260327.4	37	c.164	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478680	0.84747	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.79352	-1.26;-1.26	5.49	5.49	0.81192	.	0.045659	0.85682	D	0.000000	T	0.82157	0.4976	L	0.34521	1.04	0.50813	D	0.999895	D;D	0.76494	0.999;0.997	D;P	0.79108	0.992;0.817	T	0.82230	-0.0560	10	0.41790	T	0.15	-4.0273	15.6061	0.76672	0.0:0.0:0.0:1.0	.	55;55	Q05D32-2;Q05D32	.;CTSL2_HUMAN	C	55	ENSP00000260327:F55C;ENSP00000380000:F55C	ENSP00000260327:F55C	F	+	2	0	CTDSPL2	42538668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.097000	0.63578	0.528000	0.53228	TTT	CTDSPL2	-	NULL	ENSG00000137770		0.393	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	152	0.00	0	T	NM_016396		44751376	44751376	+1	no_errors	ENST00000260327	ensembl	human	known	69_37n	missense	106	11.67	14	SNP	1.000	G
CTDSPL2	51496	genome.wustl.edu	37	15	44783176	44783176	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:44783176C>T	ENST00000260327.4	+	5	1233	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R224C	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	224							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AACAGTTAATCGTGATATCCC	0.323																																						dbGAP											0													125.0	124.0	125.0					15																	44783176		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.670C>T	15.37:g.44783176C>T	ENSP00000260327:p.Arg224Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.R224C	ENST00000260327.4	37	c.670	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172877	0.57584	.	.	ENSG00000137770	ENST00000260327	T	0.15372	2.43	4.81	4.81	0.61882	.	0.297743	0.35903	N	0.002911	T	0.14184	0.0343	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	B	0.44315	0.446	T	0.01786	-1.1274	10	0.56958	D	0.05	-5.3414	13.2334	0.59957	0.1591:0.8409:0.0:0.0	.	224	Q05D32	CTSL2_HUMAN	C	224	ENSP00000260327:R224C	ENSP00000260327:R224C	R	+	1	0	CTDSPL2	42570468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.962000	0.40442	2.370000	0.80446	0.561000	0.74099	CGT	CTDSPL2	-	NULL	ENSG00000137770		0.323	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	169	0.00	0	C	NM_016396		44783176	44783176	+1	no_errors	ENST00000260327	ensembl	human	known	69_37n	missense	188	17.18	39	SNP	0.999	T
CTGF	1490	genome.wustl.edu	37	6	132270449	132270449	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:132270449G>T	ENST00000367976.3	-	5	1205	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	RP11-69I8.3_ENST00000435287.1_RNA	NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	335	Heparin-binding.				angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|chondrocyte proliferation (GO:0035988)|cytosolic calcium ion transport (GO:0060401)|DNA replication (GO:0006260)|epidermis development (GO:0008544)|extracellular matrix constituent secretion (GO:0070278)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|organ senescence (GO:0010260)|ossification (GO:0001503)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell activation (GO:0050867)|positive regulation of cell death (GO:0010942)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of chondrocyte differentiation (GO:0032330)|response to amino acid (GO:0043200)|response to anoxia (GO:0034059)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to mineralocorticoid (GO:0051385)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell cortex (GO:0005938)|cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|insulin-like growth factor binding (GO:0005520)			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGATTCAAAGATGTCATTGT	0.468																																					Esophageal Squamous(127;510 1660 12817 24400 38449)	dbGAP											0													139.0	125.0	130.0					6																	132270449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78947	CCDS5151.1	6q23.2	2008-02-05			ENSG00000118523	ENSG00000118523			2500	protein-coding gene	gene with protein product		121009				1654338	Standard	NM_001901		Approved	IGFBP8, CCN2	uc003qcz.3	P29279	OTTHUMG00000015573	ENST00000367976.3:c.1005C>A	6.37:g.132270449G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P578|Q6LCY0|Q96A79|Q96QX2|Q9UDL6	Silent	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.I335	ENST00000367976.3	37	c.1005	CCDS5151.1	6																																																																																			CTGF	-	pfam_Cys_knot,pirsf_IGFBP_CNN	ENSG00000118523		0.468	CTGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTGF	HGNC	protein_coding	OTTHUMT00000042239.2	117	0.00	0	G	NM_001901		132270449	132270449	-1	no_errors	ENST00000367976	ensembl	human	known	69_37n	silent	60	13.04	9	SNP	1.000	T
CTNNA1	1495	genome.wustl.edu	37	5	138119052	138119052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:138119052C>T	ENST00000302763.7	+	3	382	c.292C>T	c.(292-294)Cga>Tga	p.R98*	CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.R98*	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	98	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGATGTTCGAAAACAAGG	0.408																																						dbGAP											0													81.0	83.0	82.0					5																	138119052		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.292C>T	5.37:g.138119052C>T	ENSP00000304669:p.Arg98*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12795|Q8N1C0	Nonsense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R98*	ENST00000302763.7	37	c.292	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257414	0.80246	.	.	ENSG00000044115	ENST00000517980;ENST00000522227;ENST00000523912;ENST00000520339;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000519113;ENST00000520158;ENST00000518825	.	.	.	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.973	15.557	0.76203	0.1391:0.8609:0.0:0.0	.	.	.	.	X	98;98;98;98;98;98;98;68;98;98;98	.	ENSP00000304669:R98X	R	+	1	2	CTNNA1	138146951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.998000	0.70653	1.368000	0.46115	0.556000	0.70494	CGA	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000044115		0.408	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	193	0.00	0	C	NM_001903		138119052	138119052	+1	no_errors	ENST00000302763	ensembl	human	known	69_37n	nonsense	121	10.37	14	SNP	1.000	T
CTNNAL1	8727	genome.wustl.edu	37	9	111739420	111739420	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:111739420T>G	ENST00000325551.4	-	8	1188				CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTAATAAATTTTAATACTATT	0.229																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1102-92A>C	9.37:g.111739420T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	RNA	SNP	-	NULL	ENST00000325551.4	37	NULL	CCDS6775.1	9																																																																																			CTNNAL1	-	-	ENSG00000119326		0.229	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	50	0.00	0	T	NM_003798		111739420	111739420	-1	no_errors	ENST00000488130	ensembl	human	known	69_37n	rna	55	12.70	8	SNP	0.000	G
CTNNBIP1	56998	genome.wustl.edu	37	1	9910782	9910782	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:9910782C>T	ENST00000377263.1	-	6	551	c.240G>A	c.(238-240)agG>agA	p.R80R	CTNNBIP1_ENST00000537447.1_Silent_p.R80R|CTNNBIP1_ENST00000377258.1_Silent_p.R80R|RP11-84A14.5_ENST00000454104.1_RNA|CTNNBIP1_ENST00000400904.3_Silent_p.R80R|CTNNBIP1_ENST00000377256.1_Silent_p.R80R	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	80					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCTACTGCCTCCGGTCTT	0.617																																						dbGAP											0													138.0	125.0	129.0					1																	9910782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.240G>A	1.37:g.9910782C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4V2	Silent	SNP	pfam_ICAT,superfamily_ICAT	p.R80	ENST00000377263.1	37	c.240	CCDS106.1	1																																																																																			CTNNBIP1	-	pfam_ICAT	ENSG00000178585		0.617	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	69	0.00	0	C	NM_020248		9910782	9910782	-1	no_errors	ENST00000377256	ensembl	human	known	69_37n	silent	23	14.29	4	SNP	1.000	T
CTNNBL1	56259	genome.wustl.edu	37	20	36407727	36407727	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:36407727C>A	ENST00000361383.6	+	10	1138	c.1021C>A	c.(1021-1023)Ctc>Atc	p.L341I	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.L314I|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.L154I|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.L89I|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	341					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCTGATGAATCTCATGCTCAG	0.453																																					Ovarian(184;582 2038 3273 4106 42608)	dbGAP											0													241.0	198.0	213.0					20																	36407727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1021C>A	20.37:g.36407727C>A	ENSP00000355050:p.Leu341Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	pfam_DUF1716_euk,superfamily_ARM-type_fold	p.L314I	ENST00000361383.6	37	c.940	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083506	0.76642	.	.	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.58060	0.46;0.46;0.36;0.36	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.97110	0.893;1.0	T	0.54456	-0.8291	10	0.20519	T	0.43	-12.2371	17.5424	0.87852	0.0:1.0:0.0:0.0	.	341;154	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	I	341;314;154;89	ENSP00000355050:L341I;ENSP00000384355:L314I;ENSP00000362572:L154I;ENSP00000362568:L89I	ENSP00000355050:L341I	L	+	1	0	CTNNBL1	35841141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.598000	0.82745	2.615000	0.88500	0.555000	0.69702	CTC	CTNNBL1	-	superfamily_ARM-type_fold	ENSG00000132792		0.453	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	839	0.00	0	C	NM_030877		36407727	36407727	+1	no_errors	ENST00000405275	ensembl	human	known	69_37n	missense	348	29.70	147	SNP	1.000	A
CTNND1	1500	genome.wustl.edu	37	11	57569630	57569630	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:57569630G>A	ENST00000399050.4	+	7	1918	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	CTNND1_ENST00000528621.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R360Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R461Q|CTNND1_ENST00000531014.1_Missense_Mutation_p.R138Q|CTNND1_ENST00000529873.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000526772.1_Missense_Mutation_p.R138Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R360Q|CTNND1_ENST00000532245.1_Missense_Mutation_p.R360Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000527467.1_Missense_Mutation_p.R138Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R360Q|CTNND1_ENST00000526357.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000529919.1_Missense_Mutation_p.R461Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.R461Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R461Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R360Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R461Q|CTNND1_ENST00000524630.1_Missense_Mutation_p.R461Q|CTNND1_ENST00000533667.1_Missense_Mutation_p.R138Q|CTNND1_ENST00000525902.1_Missense_Mutation_p.R138Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R461Q|CTNND1_ENST00000530094.1_Missense_Mutation_p.R360Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R461Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R461Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R360Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R461Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R407Q|CTNND1_ENST00000532787.1_Missense_Mutation_p.R360Q	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	461					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CGATTGCTTCGAAAGGCTCGT	0.443																																						dbGAP											0													265.0	253.0	257.0					11																	57569630		1979	4161	6140	-	-	-	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1382G>A	11.37:g.57569630G>A	ENSP00000382004:p.Arg461Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R461Q	ENST00000399050.4	37	c.1382	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.049672	0.93740	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.123358	0.53938	D	0.000054	T	0.79936	0.4532	M	0.74881	2.28	0.48830	D	0.999712	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.73708	0.947;0.947;0.968;0.947;0.947;0.947;0.981;0.947;0.968	T	0.81782	-0.0775	10	0.87932	D	0	-2.8641	12.2929	0.54829	0.0786:0.0:0.9214:0.0	.	461;461;461;360;407;407;461;461;461	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	Q	461;461;461;461;461;407;360;461;461;461;360;360;461;360;138;407;407;407;461;138;360;138;138;407;138;407;407;360;360;360;407;461	ENSP00000436543:R461Q;ENSP00000434808:R461Q;ENSP00000381996:R461Q;ENSP00000353902:R461Q;ENSP00000354907:R461Q;ENSP00000436323:R407Q;ENSP00000409930:R360Q;ENSP00000382004:R461Q;ENSP00000354785:R461Q;ENSP00000354823:R461Q;ENSP00000432075:R360Q;ENSP00000437156:R360Q;ENSP00000351527:R461Q;ENSP00000434949:R360Q;ENSP00000437051:R138Q;ENSP00000435379:R407Q;ENSP00000432243:R407Q;ENSP00000436744:R407Q;ENSP00000413586:R461Q;ENSP00000434900:R138Q;ENSP00000435266:R360Q;ENSP00000432623:R138Q;ENSP00000433158:R138Q;ENSP00000435494:R407Q;ENSP00000434672:R138Q;ENSP00000433276:R407Q;ENSP00000433334:R407Q;ENSP00000437327:R360Q;ENSP00000403518:R360Q;ENSP00000434017:R360Q;ENSP00000435789:R407Q;ENSP00000432041:R461Q	ENSP00000351527:R461Q	R	+	2	0	CTNND1	57326206	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.637000	0.83313	2.618000	0.88619	0.557000	0.71058	CGA	CTNND1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000198561		0.443	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	189	0.00	0	G	NM_001331		57569630	57569630	+1	no_errors	ENST00000399050	ensembl	human	known	69_37n	missense	157	10.80	19	SNP	1.000	A
CTSE	1510	genome.wustl.edu	37	1	206327380	206327380	+	Intron	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:206327380G>C	ENST00000358184.2	+	6	780				CTSE_ENST00000360218.2_Intron|CTSE_ENST00000468617.1_Intron|CTSE_ENST00000361052.3_Intron|CTSE_ENST00000432969.2_Intron	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGTGTGCTTGGCATGAGACCA	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.663-94G>C	1.37:g.206327380G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	RNA	SNP	-	NULL	ENST00000358184.2	37	NULL	CCDS1462.1	1																																																																																			CTSE	-	-	ENSG00000196188		0.502	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087998.1	81	0.00	0	G	NM_001910		206327380	206327380	+1	no_errors	ENST00000486757	ensembl	human	putative	69_37n	rna	49	44.94	40	SNP	0.001	C
CTSE	1510	genome.wustl.edu	37	1	206328746	206328746	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:206328746C>A	ENST00000358184.2	+	7	931	c.813C>A	c.(811-813)ttC>ttA	p.F271L	CTSE_ENST00000360218.2_Intron|CTSE_ENST00000361052.3_Missense_Mutation_p.F276L|CTSE_ENST00000432969.2_Intron	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	276					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGTTATGTTCTGCTCCGAGG	0.602																																						dbGAP											0													77.0	74.0	75.0					1																	206328746		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.813C>A	1.37:g.206328746C>A	ENSP00000350911:p.Phe271Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.F276L	ENST00000358184.2	37	c.828	CCDS1462.1	1	.	.	.	.	.	.	.	.	.	.	c	10.70	1.423167	0.25639	.	.	ENSG00000196188	ENST00000358184;ENST00000361052	T;T	0.57595	0.39;0.39	5.3	3.43	0.39272	.	0.076899	0.56097	N	0.000036	T	0.47173	0.1431	L	0.28115	0.83	0.80722	D	1	D	0.60575	0.988	P	0.56216	0.794	T	0.30179	-0.9987	10	0.09843	T	0.71	.	10.7536	0.46223	0.0:0.7961:0.1319:0.0719	.	271	P14091-1	.	L	271;276	ENSP00000350911:F271L;ENSP00000354337:F276L	ENSP00000350911:F271L	F	+	3	2	CTSE	204495369	1.000000	0.71417	0.998000	0.56505	0.104000	0.19210	0.637000	0.24659	0.796000	0.33947	-0.196000	0.12772	TTC	CTSE	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000196188		0.602	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087998.1	234	0.00	0	C	NM_001910		206328746	206328746	+1	no_errors	ENST00000361052	ensembl	human	known	69_37n	missense	181	24.27	58	SNP	1.000	A
CTTNBP2	83992	genome.wustl.edu	37	7	117431991	117431991	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:117431991G>A	ENST00000160373.3	-	4	1350	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	420	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGAGCTTGCGAGTTCTGAGG	0.522																																						dbGAP											0													222.0	198.0	206.0					7																	117431991		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1259C>T	7.37:g.117431991G>A	ENSP00000160373:p.Ser420Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S420L	ENST00000160373.3	37	c.1259	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.212932	0.00289	.	.	ENSG00000077063	ENST00000160373	T	0.66099	-0.19	4.44	2.55	0.30701	.	1.164800	0.06377	N	0.714525	T	0.46889	0.1416	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.40515	-0.9559	10	0.72032	D	0.01	-0.2109	4.2746	0.10802	0.2496:0.0:0.5872:0.1632	.	420	Q8WZ74	CTTB2_HUMAN	L	420	ENSP00000160373:S420L	ENSP00000160373:S420L	S	-	2	0	CTTNBP2	117219227	0.027000	0.19231	0.001000	0.08648	0.025000	0.11179	2.209000	0.42806	0.557000	0.29117	0.557000	0.71058	TCG	CTTNBP2	-	NULL	ENSG00000077063		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	596	0.00	0	G	NM_033427		117431991	117431991	-1	no_errors	ENST00000160373	ensembl	human	known	69_37n	missense	366	27.47	139	SNP	0.001	A
CTTNBP2NL	55917	genome.wustl.edu	37	1	112998750	112998750	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:112998750C>A	ENST00000271277.6	+	6	861	c.636C>A	c.(634-636)agC>agA	p.S212R		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	212					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGAGAAGAGCCGGGTGAGTA	0.512																																						dbGAP											0													81.0	89.0	86.0					1																	112998750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.636C>A	1.37:g.112998750C>A	ENSP00000271277:p.Ser212Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.S212R	ENST00000271277.6	37	c.636	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328570	0.24167	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.64991	-0.13;0.95	6.07	6.07	0.98685	.	0.302093	0.46145	D	0.000305	T	0.34424	0.0897	L	0.35414	1.06	0.47584	D	0.999464	P	0.37955	0.612	B	0.34722	0.188	T	0.20806	-1.0264	10	0.15066	T	0.55	-9.759	14.7645	0.69629	0.0:0.9297:0.0:0.0703	.	212	Q9P2B4	CT2NL_HUMAN	R	212	ENSP00000271277:S212R;ENSP00000390976:S212R	ENSP00000271277:S212R	S	+	3	2	CTTNBP2NL	112800273	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.008000	0.29872	2.884000	0.98904	0.655000	0.94253	AGC	CTTNBP2NL	-	NULL	ENSG00000143079		0.512	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	404	0.49	2	C	NM_018704		112998750	112998750	+1	no_errors	ENST00000271277	ensembl	human	known	69_37n	missense	290	21.45	80	SNP	1.000	A
CUBN	8029	genome.wustl.edu	37	10	16955929	16955929	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:16955929T>G	ENST00000377833.4	-	48	7479	c.7414A>C	c.(7414-7416)Aat>Cat	p.N2472H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2472	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCATGAGGATTTGGGTTCGGG	0.522																																						dbGAP											0													104.0	100.0	101.0					10																	16955929		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7414A>C	10.37:g.16955929T>G	ENSP00000367064:p.Asn2472His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.N2472H	ENST00000377833.4	37	c.7414	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047513	0.55110	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	4.89	4.89	0.63831	CUB (5);	0.000000	0.49305	D	0.000151	T	0.23766	0.0575	L	0.37630	1.12	0.80722	D	1	D	0.57899	0.981	P	0.59948	0.866	T	0.01532	-1.1331	10	0.31617	T	0.26	.	8.3011	0.32014	0.306:0.0:0.0:0.694	.	2472	O60494	CUBN_HUMAN	H	2472	ENSP00000367064:N2472H	ENSP00000367064:N2472H	N	-	1	0	CUBN	16995935	1.000000	0.71417	0.935000	0.37517	0.884000	0.51177	5.980000	0.70516	2.065000	0.61736	0.482000	0.46254	AAT	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.522	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	265	0.00	0	T	NM_001081		16955929	16955929	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	166	17.82	36	SNP	0.997	G
CUL5	8065	genome.wustl.edu	37	11	107944202	107944202	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:107944202G>A	ENST00000393094.2	+	10	1707	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	364					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GATGATCCACGATTTCTTACT	0.274																																						dbGAP											0													34.0	36.0	36.0					11																	107944202		2195	4274	6469	-	-	-	SO:0001583	missense	0			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1091G>A	11.37:g.107944202G>A	ENSP00000376808:p.Arg364Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R364Q	ENST00000393094.2	37	c.1091	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.316414	0.95655	.	.	ENSG00000166266	ENST00000393094	T	0.73789	-0.78	4.94	4.94	0.65067	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.82833	-0.0262	10	0.24483	T	0.36	-5.7085	18.1581	0.89700	0.0:0.0:1.0:0.0	.	364	Q93034	CUL5_HUMAN	Q	364	ENSP00000376808:R364Q	ENSP00000376808:R364Q	R	+	2	0	CUL5	107449412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.282000	0.76494	0.655000	0.94253	CGA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000166266		0.274	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	70	0.00	0	G			107944202	107944202	+1	no_errors	ENST00000393094	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	1.000	A
CUL5	8065	genome.wustl.edu	37	11	107965237	107965237	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:107965237A>G	ENST00000393094.2	+	14	2179	c.1563A>G	c.(1561-1563)ttA>ttG	p.L521L		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	521					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AATTGGCATTACCAGGtatta	0.259																																						dbGAP											0													19.0	20.0	20.0					11																	107965237		2191	4275	6466	-	-	-	SO:0001819	synonymous_variant	0			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1563A>G	11.37:g.107965237A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K960|O14766|Q9BZC6	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L521	ENST00000393094.2	37	c.1563	CCDS31668.1	11																																																																																			CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000166266		0.259	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	70	0.00	0	A			107965237	107965237	+1	no_errors	ENST00000393094	ensembl	human	known	69_37n	silent	66	18.52	15	SNP	1.000	G
CUL9	23113	genome.wustl.edu	37	6	43155157	43155157	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:43155157C>A	ENST00000252050.4	+	6	1645	c.1561C>A	c.(1561-1563)Ctt>Att	p.L521I	CUL9_ENST00000372647.2_Missense_Mutation_p.L521I|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	521					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTCCAGAATCTTTGGAAGAA	0.458																																						dbGAP											0													82.0	88.0	86.0					6																	43155157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1561C>A	6.37:g.43155157C>A	ENSP00000252050:p.Leu521Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.L521I	ENST00000252050.4	37	c.1561	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667718	0.14710	.	.	ENSG00000112659	ENST00000252050;ENST00000372647	T;T	0.59638	0.25;0.25	5.01	2.01	0.26516	.	0.589438	0.17342	N	0.177717	T	0.25827	0.0629	L	0.41573	1.285	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.07309	-1.0779	10	0.23891	T	0.37	-7.7335	9.2575	0.37593	0.583:0.3011:0.116:0.0	.	521;521	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	I	521	ENSP00000252050:L521I;ENSP00000361730:L521I	ENSP00000252050:L521I	L	+	1	0	CUL9	43263135	0.065000	0.20965	0.998000	0.56505	0.654000	0.38779	0.344000	0.19962	0.497000	0.27926	-0.366000	0.07423	CTT	CUL9	-	NULL	ENSG00000112659		0.458	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	361	0.00	0	C	NM_015089		43155157	43155157	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	236	29.55	99	SNP	0.998	A
CUX2	23316	genome.wustl.edu	37	12	111652116	111652116	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:111652116T>C	ENST00000261726.6	+	2	328		c.e2+2		CUX2_ENST00000551604.2_Splice_Site	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2						cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTACCTGAGGTATGGTATATT	0.388																																						dbGAP											0													33.0	34.0	34.0					12																	111652116		1811	4068	5879	-	-	-	SO:0001630	splice_region_variant	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.174+2T>C	12.37:g.111652116T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2Y4	Splice_Site	SNP	-	e2+2	ENST00000261726.6	37	c.174+2	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643125	0.67244	.	.	ENSG00000111249	ENST00000261726;ENST00000397643	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX2	110136499	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.655000	0.83696	2.254000	0.74563	0.533000	0.62120	.	CUX2	-	-	ENSG00000111249		0.388	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	60	0.00	0	T	NM_015267	Intron	111652116	111652116	+1	no_errors	ENST00000261726	ensembl	human	known	69_37n	splice_site	52	18.75	12	SNP	1.000	C
CWC27	10283	genome.wustl.edu	37	5	64314060	64314060	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:64314060T>G	ENST00000381070.3	+	14	1548	c.1331T>G	c.(1330-1332)tTt>tGt	p.F444C	CWC27_ENST00000545000.1_3'UTR|RP11-307L14.2_ENST00000606057.1_lincRNA|RP11-307L14.1_ENST00000607786.1_lincRNA	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	444					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TCAGATACATTTGAAATCTAT	0.358																																						dbGAP											0													123.0	127.0	126.0					5																	64314060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1331T>G	5.37:g.64314060T>G	ENSP00000370460:p.Phe444Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60529|O60530|Q96EM3	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.F444C	ENST00000381070.3	37	c.1331	CCDS3982.2	5	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999475	0.74818	.	.	ENSG00000153015	ENST00000381070	T	0.29917	1.55	6.17	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.58278	-0.7664	10	0.87932	D	0	.	12.3964	0.55386	0.0:0.0652:0.0:0.9348	.	444	Q6UX04	CWC27_HUMAN	C	444	ENSP00000370460:F444C	ENSP00000370460:F444C	F	+	2	0	CWC27	64349816	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.865000	0.69583	1.148000	0.42385	0.533000	0.62120	TTT	CWC27	-	NULL	ENSG00000153015		0.358	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC27	HGNC	protein_coding	OTTHUMT00000157247.4	333	0.00	0	T	NM_005869		64314060	64314060	+1	no_errors	ENST00000381070	ensembl	human	known	69_37n	missense	206	26.95	76	SNP	1.000	G
CWH43	80157	genome.wustl.edu	37	4	49019329	49019329	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:49019329G>T	ENST00000226432.4	+	9	1433	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	CWH43_ENST00000513409.1_Missense_Mutation_p.R390I	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	417					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCCTATGAGAGAAAACTGGGC	0.318																																						dbGAP											0													87.0	90.0	89.0					4																	49019329		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1250G>T	4.37:g.49019329G>T	ENSP00000226432:p.Arg417Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.R417I	ENST00000226432.4	37	c.1250	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	1.409	-0.576116	0.03882	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.45668	1.48;0.89	4.74	-2.65	0.06095	.	0.858384	0.09980	N	0.731199	T	0.33527	0.0866	L	0.44542	1.39	0.34435	D	0.699013	B	0.29766	0.256	B	0.31614	0.133	T	0.35847	-0.9772	9	.	.	.	.	12.6044	0.56514	0.7215:0.0:0.2785:0.0	.	417	Q9H720	PG2IP_HUMAN	I	417;390	ENSP00000226432:R417I;ENSP00000422802:R390I	.	R	+	2	0	CWH43	48714086	0.997000	0.39634	0.004000	0.12327	0.085000	0.17905	0.338000	0.19858	-0.781000	0.04548	-0.482000	0.04802	AGA	CWH43	-	NULL	ENSG00000109182		0.318	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	522	0.00	0	G	NM_025087		49019329	49019329	+1	no_errors	ENST00000226432	ensembl	human	known	69_37n	missense	285	26.36	102	SNP	0.108	T
CXADR	1525	genome.wustl.edu	37	21	18919344	18919344	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:18919344G>T	ENST00000284878.7	+	2	791		c.e2-1		CXADR_ENST00000306618.10_Splice_Site|CXADR_ENST00000400165.1_Splice_Site|CXADR_ENST00000400166.1_Splice_Site|CXADR_ENST00000400169.1_Splice_Site|CXADR_ENST00000356275.6_Splice_Site	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor						actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TCTTTCTCTAGATTTCGCCAG	0.463																																						dbGAP											0													81.0	77.0	78.0					21																	18919344		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.44-1G>T	21.37:g.18919344G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Splice_Site	SNP	-	e2-1	ENST00000284878.7	37	c.44-1	CCDS33519.1	21	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663374	0.29515	.	.	ENSG00000154639	ENST00000284878;ENST00000400166;ENST00000356275;ENST00000400169;ENST00000400165;ENST00000306618	.	.	.	5.07	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0769	0.59091	0.0:0.0:0.8388:0.1612	.	.	.	.	.	-1	.	.	.	+	.	.	CXADR	17841215	1.000000	0.71417	0.938000	0.37757	0.171000	0.22731	7.593000	0.82686	1.446000	0.47643	0.650000	0.86243	.	CXADR	-	-	ENSG00000154639		0.463	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	HGNC	protein_coding	OTTHUMT00000158209.1	106	0.00	0	G		Intron	18919344	18919344	+1	no_errors	ENST00000284878	ensembl	human	known	69_37n	splice_site	65	12.16	9	SNP	1.000	T
CXADR	1525	genome.wustl.edu	37	21	18924180	18924180	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:18924180G>A	ENST00000284878.7	+	3	1072	c.324G>A	c.(322-324)acG>acA	p.T108T	CXADR_ENST00000306618.10_Silent_p.T108T|CXADR_ENST00000400165.1_Silent_p.T108T|CXADR_ENST00000400166.1_Silent_p.T108T|CXADR_ENST00000400169.1_Silent_p.T108T|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	108	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.T108T(2)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAATGTAACGAATTTACAAC	0.358																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)											80.0	81.0	80.0					21																	18924180		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.324G>A	21.37:g.18924180G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T108	ENST00000284878.7	37	c.324	CCDS33519.1	21																																																																																			CXADR	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154639		0.358	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	HGNC	protein_coding	OTTHUMT00000158209.1	370	0.00	0	G			18924180	18924180	+1	no_errors	ENST00000284878	ensembl	human	known	69_37n	silent	202	30.10	87	SNP	0.378	A
CXADRP3	440224	genome.wustl.edu	37	18	14479179	14479179	+	lincRNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14479179C>A	ENST00000581457.1	-	0	729					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TTGGCTTTTTCAATCATCTGC	0.527																																						dbGAP											0																																										-	-	-			0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479179C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-	ENSG00000265766		0.527	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	28	0.00	0	C	NR_024076		14479179	14479179	-1	no_errors	ENST00000581457	ensembl	human	known	69_37n	rna	15	21.05	4	SNP	0.997	A
CXCR4	7852	genome.wustl.edu	37	2	136872894	136872894	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:136872894G>T	ENST00000241393.3	-	2	708	c.604C>A	c.(604-606)Cag>Aag	p.Q202K	CXCR4_ENST00000409817.1_Missense_Mutation_p.Q206K|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	202	Involved in dimerization.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	ATGATGTGCTGAAACTGGAAC	0.493																																						dbGAP											0													147.0	136.0	140.0					2																	136872894		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.604C>A	2.37:g.136872894G>T	ENSP00000241393:p.Gln202Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.Q206K	ENST00000241393.3	37	c.616	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227079	0.79576	.	.	ENSG00000121966	ENST00000409817;ENST00000241393;ENST00000537957	T;T	0.36878	1.23;1.23	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.052047	0.85682	D	0.000000	T	0.37237	0.0996	N	0.25890	0.77	0.80722	D	1	B;D	0.58268	0.124;0.982	B;P	0.47744	0.167;0.556	T	0.01899	-1.1251	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	202;206	P61073;P61073-2	CXCR4_HUMAN;.	K	206;202;72	ENSP00000386884:Q206K;ENSP00000241393:Q202K	ENSP00000241393:Q202K	Q	-	1	0	CXCR4	136589364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAG	CXCR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000121966		0.493	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	104	0.00	0	G			136872894	136872894	-1	no_errors	ENST00000409817	ensembl	human	known	69_37n	missense	83	17.82	18	SNP	1.000	T
ACKR3	57007	genome.wustl.edu	37	2	237489126	237489126	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:237489126C>T	ENST00000272928.3	+	2	328	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	6					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.F6F(1)									TGCATCTCTTCGACTACTCAG	0.493																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											116.0	91.0	99.0					2																	237489126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.18C>T	2.37:g.237489126C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt	p.F6	ENST00000272928.3	37	c.18	CCDS2516.1	2																																																																																			CXCR7	-	prints_RDC1_rcpt	ENSG00000144476		0.493	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR7	HGNC	protein_coding	OTTHUMT00000257079.2	132	0.00	0	C	NM_020311		237489126	237489126	+1	no_errors	ENST00000272928	ensembl	human	known	69_37n	silent	94	25.78	33	SNP	0.621	T
CXorf23	256643	genome.wustl.edu	37	X	19973551	19973551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:19973551C>A	ENST00000379682.4	-	4	1441	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*	CXorf23_ENST00000356980.3_Nonsense_Mutation_p.E470*|CXorf23_ENST00000379687.3_Nonsense_Mutation_p.E470*			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	470						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TGAGCAAATTCTCCTGTAGGT	0.358																																						dbGAP											0													167.0	142.0	150.0					X																	19973551		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1408G>T	X.37:g.19973551C>A	ENSP00000369004:p.Glu470*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Nonsense_Mutation	SNP	NULL	p.E470*	ENST00000379682.4	37	c.1408		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.124682|7.124682	0.98081|0.98081	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	.|.	.|.	.|.	5.88|5.88	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65080	.|0.2657	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70281	.|-0.4915	.|3	.|.	.|.	.|.	.|.	14.2471|14.2471	0.65995|0.65995	0.0:0.8553:0.1446:0.0|0.0:0.8553:0.1446:0.0	.|.	.|.	.|.	.|.	X|I	470;470;470;358|78	.|.	.|.	E|R	-|-	1|2	0|0	CXorf23|CXorf23	19883472|19883472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.752000|3.752000	0.55172|0.55172	1.196000|1.196000	0.43129|0.43129	0.600000|0.600000	0.82982|0.82982	GAA|AGA	CXorf23	-	NULL	ENSG00000173681		0.358	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	612	0.16	1	C	NM_198279		19973551	19973551	-1	no_errors	ENST00000379687	ensembl	human	known	69_37n	nonsense	339	22.43	98	SNP	1.000	A
CXorf23	256643	genome.wustl.edu	37	X	19984268	19984268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:19984268C>A	ENST00000379682.4	-	2	574	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	CXorf23_ENST00000356980.3_Nonsense_Mutation_p.E181*|CXorf23_ENST00000379687.3_Nonsense_Mutation_p.E181*			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	181						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATTTTTCTTCTTGTATCCTC	0.408																																						dbGAP											0													159.0	139.0	145.0					X																	19984268		1855	4102	5957	-	-	-	SO:0001587	stop_gained	0			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.541G>T	X.37:g.19984268C>A	ENSP00000369004:p.Glu181*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Nonsense_Mutation	SNP	NULL	p.E181*	ENST00000379682.4	37	c.541		X	.	.	.	.	.	.	.	.	.	.	C	37	6.028828	0.97216	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.	.	.	5.91	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4586	0.44565	0.0:0.8485:0.0:0.1515	.	.	.	.	X	181;181;181;69	.	.	E	-	1	0	CXorf23	19894189	1.000000	0.71417	0.976000	0.42696	0.978000	0.69477	2.439000	0.44846	1.255000	0.44051	0.556000	0.70494	GAA	CXorf23	-	NULL	ENSG00000173681		0.408	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	477	0.00	0	C	NM_198279		19984268	19984268	-1	no_errors	ENST00000379687	ensembl	human	known	69_37n	nonsense	288	30.77	128	SNP	1.000	A
CXorf30	645090	genome.wustl.edu	37	X	36317131	36317131	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:36317131G>T	ENST00000378657.4	+	6	712	c.64G>T	c.(64-66)Gat>Tat	p.D22Y		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	22								p.D616Y(1)		breast(1)|lung(2)|stomach(1)	4						TAATCCAAAAGATAGAGGTCT	0.368																																						dbGAP											1	Substitution - Missense(1)	lung(1)											153.0	120.0	130.0					X																	36317131		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.64G>T	X.37:g.36317131G>T	ENSP00000367926:p.Asp22Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D22Y	ENST00000378657.4	37	c.64	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022799	0.35701	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.26810	1.75;1.71	5.19	-2.68	0.06041	.	.	.	.	.	T	0.18882	0.0453	N	0.14661	0.345	0.09310	N	1	D	0.54207	0.965	P	0.51135	0.66	T	0.20273	-1.0280	9	0.66056	D	0.02	.	6.794	0.23715	0.5273:0.1251:0.3476:0.0	.	22	A6PW82	CX030_HUMAN	Y	307;22	ENSP00000367922:D307Y;ENSP00000367926:D22Y	ENSP00000367922:D307Y	D	+	1	0	CXorf30	36227052	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.643000	0.05421	-0.648000	0.05437	-0.909000	0.02823	GAT	CXorf30	-	NULL	ENSG00000205081		0.368	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		281	0.00	0	G	NP_001092313		36317131	36317131	+1	no_errors	ENST00000378657	ensembl	human	known	69_37n	missense	140	25.13	47	SNP	0.001	T
CXorf30	645090	genome.wustl.edu	37	X	36403069	36403069	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:36403069G>T	ENST00000378657.4	+	18	2498	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	RP11-87M18.2_ENST00000455438.2_RNA	NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	617										breast(1)|lung(2)|stomach(1)	4						AAACTCATAAGAACAGGGGTG	0.378																																						dbGAP											0													108.0	87.0	93.0					X																	36403069		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1850G>T	X.37:g.36403069G>T	ENSP00000367926:p.Arg617Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R617I	ENST00000378657.4	37	c.1850	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752299	0.49362	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.42900	0.96;0.96	5.74	1.83	0.25207	.	0.274768	0.36444	N	0.002599	T	0.29914	0.0748	L	0.39898	1.24	0.09310	N	0.999999	P	0.43352	0.804	B	0.42738	0.396	T	0.18398	-1.0338	10	0.54805	T	0.06	-1.7103	1.976	0.03416	0.2023:0.327:0.348:0.1227	.	617	A6PW82	CX030_HUMAN	I	902;617	ENSP00000367922:R902I;ENSP00000367926:R617I	ENSP00000367922:R902I	R	+	2	0	CXorf30	36312990	0.328000	0.24687	0.001000	0.08648	0.005000	0.04900	1.173000	0.31920	0.195000	0.20347	0.544000	0.68410	AGA	CXorf30	-	NULL	ENSG00000205081		0.378	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		260	0.00	0	G	NP_001092313		36403069	36403069	+1	no_errors	ENST00000378657	ensembl	human	known	69_37n	missense	137	22.16	39	SNP	0.033	T
CXorf36	79742	genome.wustl.edu	37	X	45010806	45010806	+	3'UTR	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:45010806A>C	ENST00000398000.2	-	0	1467				CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36							extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CATCTTTAAAAAAGAGCTGCT	0.517																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.*91T>G	X.37:g.45010806A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUU5|B2RPN7|Q6UWJ5	RNA	SNP	-	NULL	ENST00000398000.2	37	NULL	CCDS48096.1	X																																																																																			CXorf36	-	-	ENSG00000147113		0.517	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	72	0.00	0	A	NM_024689		45010806	45010806	-1	no_errors	ENST00000477281	ensembl	human	known	69_37n	rna	56	17.65	12	SNP	0.000	C
PBDC1	51260	genome.wustl.edu	37	X	75395422	75395422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:75395422G>T	ENST00000373358.3	+	4	474	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	PBDC1_ENST00000373357.3_Nonsense_Mutation_p.E91*	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	91																	GGACCCAGAAGAACTCAAGTC	0.348																																						dbGAP											0													62.0	56.0	58.0					X																	75395422		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.271G>T	X.37:g.75395422G>T	ENSP00000362456:p.Glu91*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Put_polysacc_synth	p.E91*	ENST00000373358.3	37	c.271	CCDS14432.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.125601	0.97305	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	4.87	4.87	0.63330	.	0.154231	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-23.1763	14.5104	0.67784	0.0:0.0:1.0:0.0	.	.	.	.	X	91	.	ENSP00000362455:E91X	E	+	1	0	CXorf26	75311824	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.038000	0.64177	2.395000	0.81488	0.544000	0.68410	GAA	CXorf26	-	pfam_Put_polysacc_synth	ENSG00000102390		0.348	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf26	HGNC	protein_coding	OTTHUMT00000057294.1	225	0.44	1	G	NM_016500		75395422	75395422	+1	no_errors	ENST00000373358	ensembl	human	known	69_37n	nonsense	144	13.69	23	SNP	1.000	T
CXorf67	340602	genome.wustl.edu	37	X	51151014	51151014	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:51151014G>A	ENST00000342995.2	+	1	1248	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	382	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TTGCCTTTCAGAGCAGATCAG	0.602																																						dbGAP											0													65.0	51.0	56.0					X																	51151014		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1146G>A	X.37:g.51151014G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.Q382	ENST00000342995.2	37	c.1146		X																																																																																			CXorf67	-	NULL	ENSG00000187690		0.602	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	CXorf67	HGNC	protein_coding		68	0.00	0	G	NM_203407		51151014	51151014	+1	no_errors	ENST00000342995	ensembl	human	known	69_37n	silent	34	20.93	9	SNP	0.000	A
CXorf56	63932	genome.wustl.edu	37	X	118675341	118675341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118675341C>A	ENST00000371594.4	-	6	634	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	CXorf56_ENST00000536133.1_Nonsense_Mutation_p.E172*|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000320339.4_Nonsense_Mutation_p.E137*	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	186										cervix(1)|endometrium(2)|lung(7)	10						AGCTGTTTTTCAATCACTTTG	0.483																																						dbGAP											0													159.0	132.0	141.0					X																	118675341		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.556G>T	X.37:g.118675341C>A	ENSP00000360652:p.Glu186*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Nonsense_Mutation	SNP	NULL	p.E186*	ENST00000371594.4	37	c.556	CCDS14579.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.143252	0.97320	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.0882	17.0988	0.86642	0.0:1.0:0.0:0.0	.	.	.	.	X	186;137;186;172;186	.	ENSP00000320345:E137X	E	-	1	0	CXorf56	118559369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.064000	0.76721	2.352000	0.79861	0.597000	0.82753	GAA	CXorf56	-	NULL	ENSG00000018610		0.483	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		222	0.00	0	C	NM_022101		118675341	118675341	-1	no_errors	ENST00000371594	ensembl	human	known	69_37n	nonsense	156	18.65	36	SNP	1.000	A
SMIM9	100132963	genome.wustl.edu	37	X	154058958	154058958	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:154058958G>T	ENST00000369529.1	-	2	339				SMIM9_ENST00000478043.1_5'UTR	NM_001162936.1	NP_001156408.1	A6NGZ8	SMIM9_HUMAN	small integral membrane protein 9							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTCCTATGAAGAAAGAAACAT	0.383																																						dbGAP											0													104.0	82.0	88.0					X																	154058958		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS55546.1	Xq28	2012-11-29	2012-11-29	2012-11-29	ENSG00000203870	ENSG00000203870			41915	protein-coding gene	gene with protein product			"""chromosome X open reading frame 68"""	CXorf68			Standard	NM_001162936		Approved		uc022cik.1	A6NGZ8	OTTHUMG00000024243	ENST00000369529.1:c.142+31C>A	X.37:g.154058958G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000369529.1	37	NULL	CCDS55546.1	X																																																																																			CXorf68	-	-	ENSG00000203870		0.383	SMIM9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CXorf68	HGNC	protein_coding	OTTHUMT00000061185.2	408	0.24	1	G	NM_001162936		154058958	154058958	-1	no_errors	ENST00000478043	ensembl	human	known	69_37n	rna	408	12.07	56	SNP	0.000	T
CYFIP2	26999	genome.wustl.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:156747679C>T	ENST00000521420.1	+	14	1553	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R188*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R439*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R514*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R318*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.R514*					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532																																						dbGAP											0													59.0	60.0	60.0					5																	156747679		1962	4140	6102	-	-	-	SO:0001587	stop_gained	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1462C>T	5.37:g.156747679C>T	ENSP00000430904:p.Arg488*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.R514*	ENST00000521420.1	37	c.1540		5	.	.	.	.	.	.	.	.	.	.	C	42	9.747593	0.99253	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	5.64	5.64	0.86602	.	0.054754	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3411	15.3335	0.74231	0.1402:0.8597:0.0:0.0	.	.	.	.	X	514;318;488;514;514;439;188	.	ENSP00000325817:R514X	R	+	1	2	CYFIP2	156680257	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.859000	0.39418	2.664000	0.90586	0.655000	0.94253	CGA	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.532	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	72	0.00	0	C	NM_001037332		156747679	156747679	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	nonsense	54	23.94	17	SNP	1.000	T
CYLC1	1538	genome.wustl.edu	37	X	83128337	83128337	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:83128337G>T	ENST00000329312.4	+	4	658	c.621G>T	c.(619-621)aaG>aaT	p.K207N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	207					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGAATTCCAAGAAGACAAACA	0.323																																						dbGAP											0													24.0	23.0	24.0					X																	83128337		2186	4272	6458	-	-	-	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.621G>T	X.37:g.83128337G>T	ENSP00000331556:p.Lys207Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.K207N	ENST00000329312.4	37	c.621	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	g	10.40	1.340824	0.24339	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52526	0.66	4.69	-0.889	0.10580	.	.	.	.	.	T	0.45816	0.1361	L	0.50333	1.59	0.09310	N	1	D;D	0.58268	0.982;0.982	P;P	0.52481	0.7;0.7	T	0.34601	-0.9822	9	0.54805	T	0.06	0.2644	3.7343	0.08504	0.2096:0.0:0.2847:0.5056	.	207;207	P35663;F5H4V5	CYLC1_HUMAN;.	N	207	ENSP00000331556:K207N	ENSP00000331556:K207N	K	+	3	2	CYLC1	83014993	0.011000	0.17503	0.000000	0.03702	0.067000	0.16453	0.125000	0.15749	-0.121000	0.11787	-0.322000	0.08575	AAG	CYLC1	-	NULL	ENSG00000183035		0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	44	0.00	0	G	NM_021118		83128337	83128337	+1	no_errors	ENST00000329312	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	0.000	T
CYLC2	1539	genome.wustl.edu	37	9	105765528	105765528	+	Missense_Mutation	SNP	C	C	T	rs151008463		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:105765528C>T	ENST00000374798.3	+	3	233	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	CYLC2_ENST00000487798.1_Missense_Mutation_p.R55W	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	55	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TTCTCAAATACGGGACAACAC	0.313																																						dbGAP											0													99.0	90.0	93.0					9																	105765528		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.163C>T	9.37:g.105765528C>T	ENSP00000420256:p.Arg55Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.R55W	ENST00000374798.3	37	c.163	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700402	0.48307	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.17691	2.26;2.26	4.93	-4.18	0.03846	.	1.680540	0.03584	N	0.230689	T	0.34308	0.0893	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.72625	0.978	T	0.51458	-0.8703	10	0.72032	D	0.01	-2.203	11.4425	0.50105	0.6992:0.1859:0.1149:0.0	.	55	Q14093	CYLC2_HUMAN	W	55	ENSP00000420256:R55W;ENSP00000417674:R55W	ENSP00000420256:R55W	R	+	1	2	CYLC2	104805349	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.624000	0.05540	-0.499000	0.06623	-0.230000	0.12252	CGG	CYLC2	-	NULL	ENSG00000155833		0.313	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	360	0.00	0	C	NM_001340		105765528	105765528	+1	no_errors	ENST00000374798	ensembl	human	putative	69_37n	missense	187	23.48	58	SNP	0.000	T
CYLD	1540	genome.wustl.edu	37	16	50828137	50828137	+	Silent	SNP	G	G	A	rs566208201		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:50828137G>A	ENST00000427738.3	+	17	2689	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	CYLD_ENST00000540145.1_Silent_p.P828P|CYLD_ENST00000569418.1_Silent_p.P825P|CYLD_ENST00000564326.1_Silent_p.P825P|CYLD_ENST00000566206.1_Silent_p.P825P|CYLD_ENST00000398568.2_Silent_p.P825P|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000568704.2_Silent_p.P643P|CYLD_ENST00000311559.9_Silent_p.P828P|RP11-327F22.4_ENST00000575917.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	828	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ACCTTCATCCGAAGAGGCTGA	0.488			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													dbGAP	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													90.0	87.0	88.0					16																	50828137		1896	4126	6022	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2484G>A	16.37:g.50828137G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19	p.P828	ENST00000427738.3	37	c.2484	CCDS45482.1	16																																																																																			CYLD	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000083799		0.488	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	80	0.00	0	G			50828137	50828137	+1	no_errors	ENST00000311559	ensembl	human	known	69_37n	silent	53	40.45	36	SNP	0.994	A
CYP11B1	1584	genome.wustl.edu	37	8	143957200	143957200	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:143957200C>A	ENST00000292427.4	-	6	1081	c.1049G>T	c.(1048-1050)aGc>aTc	p.S350I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.S350I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.S421I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	350					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TTCACTGATGCTGGCTGCGGC	0.657									Familial Hyperaldosteronism type I																													dbGAP											0													76.0	78.0	77.0					8																	143957200		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1049G>T	8.37:g.143957200C>A	ENSP00000292427:p.Ser350Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.S350I	ENST00000292427.4	37	c.1049	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	6.410	0.443804	0.12164	.	.	ENSG00000160882	ENST00000519285;ENST00000292427;ENST00000517471;ENST00000377675	T;T;T;T	0.75704	-0.96;-0.42;-0.42;-0.42	4.42	-4.89	0.03103	.	1.479830	0.04238	N	0.336509	T	0.58278	0.2111	L	0.28054	0.825	0.09310	N	1	B;B;B;B;B	0.26318	0.082;0.011;0.045;0.035;0.146	B;B;B;B;B	0.29663	0.081;0.081;0.081;0.091;0.105	T	0.46527	-0.9185	10	0.41790	T	0.15	.	4.5778	0.12243	0.1093:0.3063:0.4314:0.153	.	421;350;350;350;66	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	I	5;350;350;421	ENSP00000430144:S5I;ENSP00000292427:S350I;ENSP00000428043:S350I;ENSP00000366903:S421I	ENSP00000292427:S350I	S	-	2	0	CYP11B1	143954202	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.280000	0.08468	-1.002000	0.03429	0.555000	0.69702	AGC	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160882		0.657	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	147	0.00	0	C			143957200	143957200	-1	no_errors	ENST00000292427	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.000	A
CYP24A1	1591	genome.wustl.edu	37	20	52775543	52775543	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:52775543A>G	ENST00000216862.3	-	8	1503	c.1110T>C	c.(1108-1110)gaT>gaC	p.D370D	CYP24A1_ENST00000395955.3_Silent_p.D370D|CYP24A1_ENST00000395954.3_Silent_p.D228D|CYP24A1_ENST00000460643.1_5'Flank	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	370					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TATTCCTCAAATCTTCTGCCC	0.393																																						dbGAP											0													127.0	133.0	131.0					20																	52775543		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1110T>C	20.37:g.52775543A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15807|Q32ML3|Q5I2W7	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D370	ENST00000216862.3	37	c.1110	CCDS33491.1	20																																																																																			CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.393	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	234	0.00	0	A			52775543	52775543	-1	no_errors	ENST00000216862	ensembl	human	known	69_37n	silent	173	15.53	32	SNP	0.007	G
CYP2C18	1562	genome.wustl.edu	37	10	96447538	96447538	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:96447538C>T	ENST00000285979.6	+	2	379	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CYP2C18_ENST00000339022.5_Silent_p.V60V	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	60					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TCTCAAAAGTCTATGGCCCTG	0.403																																						dbGAP											0													221.0	218.0	219.0					10																	96447538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.180C>T	10.37:g.96447538C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.V60	ENST00000285979.6	37	c.180	CCDS7435.1	10																																																																																			CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000108242		0.403	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	1309	0.00	0	C	NM_000772		96447538	96447538	+1	no_errors	ENST00000285979	ensembl	human	known	69_37n	silent	692	33.01	343	SNP	0.000	T
CYP2C8	1558	genome.wustl.edu	37	10	96818189	96818189	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:96818189C>T	ENST00000371270.3	-	5	816	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	CYP2C8_ENST00000539050.1_Missense_Mutation_p.R155Q|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R139Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	241					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AATGTAACTTCGTGTAAGAGC	0.373																																						dbGAP											0													173.0	150.0	158.0					10																	96818189		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.722G>A	10.37:g.96818189C>T	ENSP00000360317:p.Arg241Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R241Q	ENST00000371270.3	37	c.722	CCDS7438.1	10	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908938	0.33721	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.68181	-0.31;-0.31;-0.31	4.17	-5.84	0.02318	.	0.632278	0.15084	N	0.281502	T	0.40040	0.1101	N	0.13299	0.325	0.09310	N	1	B;B;B;B	0.22211	0.035;0.018;0.066;0.005	B;B;B;B	0.14023	0.003;0.002;0.01;0.002	T	0.07121	-1.0789	10	0.54805	T	0.06	.	7.0726	0.25187	0.112:0.4035:0.0:0.4845	.	155;139;209;241	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	Q	241;208;139;155	ENSP00000360317:R241Q;ENSP00000445062:R139Q;ENSP00000442343:R155Q	ENSP00000360317:R241Q	R	-	2	0	CYP2C8	96808179	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.721000	0.04963	-2.082000	0.00868	-2.153000	0.00332	CGA	CYP2C8	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138115		0.373	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C8	HGNC	protein_coding	OTTHUMT00000049499.2	572	0.00	0	C	NM_000770		96818189	96818189	-1	no_errors	ENST00000371270	ensembl	human	known	69_37n	missense	486	11.13	61	SNP	0.000	T
CYP2D6	1565	genome.wustl.edu	37	22	42524867	42524867	+	Silent	SNP	G	G	A	rs267608301		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:42524867G>A	ENST00000360608.5	-	4	699	c.585C>T	c.(583-585)ttC>ttT	p.F195F	CYP2D6_ENST00000359033.4_Silent_p.F144F|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Silent_p.F195F	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	195					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CGTCGTACTCGAAGCGGCGCC	0.657																																						dbGAP											0													22.0	18.0	20.0					22																	42524867		2192	4286	6478	-	-	-	SO:0001819	synonymous_variant	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.585C>T	22.37:g.42524867G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F195	ENST00000360608.5	37	c.585	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000100197		0.657	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	130	0.00	0	G			42524867	42524867	-1	no_errors	ENST00000360608	ensembl	human	known	69_37n	silent	43	20.00	11	SNP	0.340	A
CYP39A1	51302	genome.wustl.edu	37	6	46554888	46554888	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46554888C>A	ENST00000275016.2	-	10	1379	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CYP39A1_ENST00000489657.1_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	392					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CTAAATTTGCCTTTTTCCAAC	0.398																																						dbGAP											0													81.0	73.0	76.0					6																	46554888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1176G>T	6.37:g.46554888C>A	ENSP00000275016:p.Lys392Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTT0|Q96FW5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.K392N	ENST00000275016.2	37	c.1176	CCDS4916.1	6	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494583	0.64186	.	.	ENSG00000146233	ENST00000275016	D	0.84730	-1.89	5.91	5.05	0.67936	.	0.488214	0.23552	N	0.046952	T	0.70465	0.3227	L	0.31157	0.91	0.33272	D	0.561146	P;P	0.45428	0.858;0.858	P;P	0.49528	0.614;0.511	T	0.67277	-0.5711	10	0.17832	T	0.49	-2.0745	9.4096	0.38482	0.0:0.7883:0.0:0.2117	.	372;392	B7Z786;Q9NYL5	.;CP39A_HUMAN	N	392	ENSP00000275016:K392N	ENSP00000275016:K392N	K	-	3	2	CYP39A1	46662847	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.240000	0.32731	1.517000	0.48917	0.650000	0.86243	AAG	CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000146233		0.398	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	389	0.00	0	C			46554888	46554888	-1	no_errors	ENST00000275016	ensembl	human	known	69_37n	missense	218	12.45	31	SNP	1.000	A
CYP3A43	64816	genome.wustl.edu	37	7	99457527	99457527	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99457527C>A	ENST00000354829.2	+	10	1043	c.940C>A	c.(940-942)Ctc>Atc	p.L314I	CYP3A43_ENST00000342499.4_Missense_Mutation_p.L174I|CYP3A43_ENST00000415413.1_Missense_Mutation_p.L103I|CYP3A43_ENST00000444905.1_Missense_Mutation_p.L61I|CYP3A43_ENST00000222382.5_Missense_Mutation_p.L314I|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Missense_Mutation_p.L314I|CYP3A43_ENST00000417625.1_Missense_Mutation_p.L204I	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	314			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TAGCACCACTCTCCCCTTCAT	0.453																																						dbGAP											0													186.0	169.0	175.0					7																	99457527		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.940C>A	7.37:g.99457527C>A	ENSP00000346887:p.Leu314Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.L314I	ENST00000354829.2	37	c.940	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822653	0.50739	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	2.49	2.49	0.30216	.	0.000000	0.85682	D	0.000000	T	0.75737	0.3890	M	0.64170	1.965	0.35617	D	0.80914	P;P;P;B;B	0.49559	0.666;0.758;0.925;0.323;0.323	P;P;P;P;P	0.56960	0.663;0.81;0.665;0.55;0.55	T	0.80892	-0.1179	10	0.44086	T	0.13	.	11.0606	0.47944	0.0:1.0:0.0:0.0	.	204;174;314;314;314	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	I	314;204;174;61;103;314;314	ENSP00000346887:L314I;ENSP00000416581:L204I;ENSP00000345351:L174I;ENSP00000405557:L61I;ENSP00000401521:L103I;ENSP00000312110:L314I;ENSP00000222382:L314I	ENSP00000222382:L314I	L	+	1	0	CYP3A43	99295463	0.546000	0.26457	0.021000	0.16686	0.873000	0.50193	1.214000	0.32419	1.694000	0.51137	0.205000	0.17691	CTC	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000021461		0.453	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	265	0.00	0	C			99457527	99457527	+1	no_errors	ENST00000222382	ensembl	human	known	69_37n	missense	187	14.22	31	SNP	0.543	A
CYP46A1	10858	genome.wustl.edu	37	14	100166377	100166377	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:100166377G>A	ENST00000261835.3	+	5	486	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CYP46A1_ENST00000423126.2_Missense_Mutation_p.E31K	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	128					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTTGGTGTCCGAATGCAACTA	0.622																																						dbGAP											0													84.0	68.0	74.0					14																	100166377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.382G>A	14.37:g.100166377G>A	ENSP00000261835:p.Glu128Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.E128K	ENST00000261835.3	37	c.382	CCDS9954.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.982363|3.982363	0.74474|0.74474	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000261835;ENST00000423126|ENST00000380228	T;T|.	0.67523|.	-0.27;-0.27|.	4.84|4.84	3.94|3.94	0.45596|0.45596	.|.	0.306550|.	0.33610|.	N|.	0.004725|.	T|T	0.26484|0.26484	0.0647|0.0647	N|N	0.20986|0.20986	0.625|0.625	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.09185|0.09185	-1.0686|-1.0686	10|5	0.08599|.	T|.	0.76|.	.|.	8.0995|8.0995	0.30848|0.30848	0.1062:0.0:0.8938:0.0|0.1062:0.0:0.8938:0.0	.|.	128;99|.	Q9Y6A2;Q59ER2|.	CP46A_HUMAN;.|.	K|Q	128;31|114	ENSP00000261835:E128K;ENSP00000405779:E31K|.	ENSP00000261835:E128K|.	E|R	+|+	1|2	0|0	CYP46A1|CYP46A1	99236130|99236130	0.865000|0.865000	0.29922|0.29922	0.833000|0.833000	0.33012|0.33012	0.988000|0.988000	0.76386|0.76386	3.547000|3.547000	0.53663|0.53663	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GAA|CGA	CYP46A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000036530		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1	80	0.00	0	G			100166377	100166377	+1	no_errors	ENST00000261835	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	0.158	A
CYP4B1	1580	genome.wustl.edu	37	1	47283832	47283832	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:47283832G>A	ENST00000271153.4	+	11	1335	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	CYP4B1_ENST00000371923.4_Silent_p.E434E|CYP4B1_ENST00000452782.2_Silent_p.E271E|CYP4B1_ENST00000371919.4_Silent_p.E419E			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	433					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.E433D(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTTCCACTGAGAATGCATCCA	0.582																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											152.0	140.0	144.0					1																	47283832		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1299G>A	1.37:g.47283832G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E434	ENST00000271153.4	37	c.1302	CCDS542.1	1																																																																																			CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000142973		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	224	0.00	0	G	NM_000779		47283832	47283832	+1	no_errors	ENST00000371923	ensembl	human	known	69_37n	silent	109	12.80	16	SNP	1.000	A
CYP4F12	66002	genome.wustl.edu	37	19	15789133	15789133	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:15789133C>A	ENST00000550308.1	+	3	641	c.261C>A	c.(259-261)ggC>ggA	p.G87G	CYP4F12_ENST00000324632.10_Silent_p.G87G	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	87					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATTCCCAGGGCTTTACGATAT	0.532																																						dbGAP											0													140.0	142.0	141.0					19																	15789133		2181	4283	6464	-	-	-	SO:0001819	synonymous_variant	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.261C>A	19.37:g.15789133C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.G87	ENST00000550308.1	37	c.261	CCDS42517.1	19																																																																																			CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000186204		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9	94	0.00	0	C			15789133	15789133	+1	no_errors	ENST00000324632	ensembl	human	known	69_37n	silent	47	11.32	6	SNP	0.000	A
CYP4F11	57834	genome.wustl.edu	37	19	16038070	16038070	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:16038070G>T	ENST00000402119.4	-	4	903	c.477C>A	c.(475-477)atC>atA	p.I159I	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Silent_p.I159I|CYP4F11_ENST00000248041.8_Silent_p.I159I	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAGGCTTCAAGATGTTGAAAT	0.547																																						dbGAP											0													93.0	88.0	90.0					19																	16038070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.477C>A	19.37:g.16038070G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.I159	ENST00000402119.4	37	c.477	CCDS12337.1	19																																																																																			CYP4F11	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II	ENSG00000171903		0.547	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	90	0.00	0	G	NM_021187		16038070	16038070	-1	no_errors	ENST00000248041	ensembl	human	known	69_37n	silent	95	15.93	18	SNP	1.000	T
CYP4V2	285440	genome.wustl.edu	37	4	187131688	187131688	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:187131688G>T	ENST00000378802.4	+	11	1775	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	491					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CTTTTGGATAGAATCCAACCA	0.398																																						dbGAP											0													122.0	120.0	121.0					4																	187131688		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1471G>T	4.37:g.187131688G>T	ENSP00000368079:p.Glu491*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7U6W2|Q6ZTM4	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.E491*	ENST00000378802.4	37	c.1471	CCDS34119.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.198988	0.98701	.	.	ENSG00000145476	ENST00000378802;ENST00000274118	.	.	.	5.12	5.12	0.69794	.	0.110120	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	18.7506	0.91812	0.0:0.0:1.0:0.0	.	.	.	.	X	491;469	.	ENSP00000274118:E469X	E	+	1	0	CYP4V2	187368682	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	8.968000	0.93407	2.669000	0.90835	0.591000	0.81541	GAA	CYP4V2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000145476		0.398	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4V2	HGNC	protein_coding	OTTHUMT00000360398.1	554	0.00	0	G	XM_209612		187131688	187131688	+1	no_errors	ENST00000378802	ensembl	human	known	69_37n	nonsense	406	10.18	46	SNP	1.000	T
CYYR1	116159	genome.wustl.edu	37	21	27945287	27945287	+	5'UTR	SNP	G	G	A	rs560478891		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:27945287G>A	ENST00000299340.4	-	0	316				CYYR1_ENST00000435845.2_Silent_p.F99F|CYYR1_ENST00000400043.3_5'UTR	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1							integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGCTTGGAGCGAAGGGAGAGC	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15549	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													35.0	35.0	35.0					21																	27945287		2203	4298	6501	-	-	-	SO:0001623	5_prime_UTR_variant	0			AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.-28C>T	21.37:g.27945287G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	pfam_CYYR1	p.F99	ENST00000299340.4	37	c.297	CCDS13578.1	21																																																																																			CYYR1	-	NULL	ENSG00000166265		0.642	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYYR1	HGNC	protein_coding	OTTHUMT00000171654.2	69	0.00	0	G	NM_052954		27945287	27945287	-1	no_errors	ENST00000435845	ensembl	human	known	69_37n	silent	22	31.25	10	SNP	0.000	A
DAAM1	23002	genome.wustl.edu	37	14	59806850	59806850	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:59806850C>T	ENST00000395125.1	+	16	2080	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	DAAM1_ENST00000351081.1_Missense_Mutation_p.S686L|DAAM1_ENST00000360909.3_Missense_Mutation_p.S676L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	686	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AAAGAGCTTTCGGTGATTGAT	0.393																																						dbGAP											0													146.0	135.0	138.0					14																	59806850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2057C>T	14.37:g.59806850C>T	ENSP00000378557:p.Ser686Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.S686L	ENST00000395125.1	37	c.2057	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.119941	0.94385	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.18960	2.18;2.18;2.18	5.74	5.74	0.90152	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.059063	0.64402	D	0.000001	T	0.59059	0.2166	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66976	-0.5787	10	0.56958	D	0.05	.	19.5383	0.95264	0.0:1.0:0.0:0.0	.	676;686	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	676;686;686;686	ENSP00000354162:S676L;ENSP00000247170:S686L;ENSP00000378557:S686L	ENSP00000247170:S686L	S	+	2	0	DAAM1	58876603	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.227000	0.78070	2.715000	0.92844	0.655000	0.94253	TCG	DAAM1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000100592		0.393	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	366	0.00	0	C	NM_014992		59806850	59806850	+1	no_errors	ENST00000351081	ensembl	human	known	69_37n	missense	267	11.22	34	SNP	1.000	T
DAAM2	23500	genome.wustl.edu	37	6	39869080	39869080	+	Silent	SNP	C	C	T	rs148294935		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:39869080C>T	ENST00000398904.2	+	24	2996	c.2814C>T	c.(2812-2814)ttC>ttT	p.F938F	DAAM2_ENST00000274867.4_Silent_p.F938F|DAAM2_ENST00000538976.1_Silent_p.F937F|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	938	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.F937L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGACAGTTCGCCAAGGCCT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		22200	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	lung(1)											155.0	158.0	157.0					6																	39869080		2069	4207	6276	-	-	-	SO:0001819	synonymous_variant	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2814C>T	6.37:g.39869080C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.F938	ENST00000398904.2	37	c.2814	CCDS56426.1	6																																																																																			DAAM2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000146122		0.572	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	105	0.00	0	C			39869080	39869080	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	silent	43	29.51	18	SNP	0.130	T
DACH1	1602	genome.wustl.edu	37	13	72133957	72133957	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:72133957C>A	ENST00000359684.2	-	6	1591	c.1592G>T	c.(1591-1593)aGa>aTa	p.R531I	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.R479I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	531					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTACGGATTCTGTCAGAAGA	0.498																																						dbGAP											0													55.0	59.0	58.0					13																	72133957		2020	4188	6208	-	-	-	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1592G>T	13.37:g.72133957C>A	ENSP00000352712:p.Arg531Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.R531I	ENST00000359684.2	37	c.1592		13	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015334	0.93404	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.36878	1.28;1.23	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.59532	-0.7437	10	0.51188	T	0.08	-15.0637	20.1991	0.98252	0.0:1.0:0.0:0.0	.	477	Q9UI36-2	.	I	479;531;531	ENSP00000304994:R479I;ENSP00000352712:R531I	ENSP00000304994:R479I	R	-	2	0	DACH1	71031958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.422000	0.80217	2.775000	0.95449	0.650000	0.86243	AGA	DACH1	-	NULL	ENSG00000165659		0.498	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	146	0.00	0	C	NM_004392		72133957	72133957	-1	no_errors	ENST00000359684	ensembl	human	known	69_37n	missense	75	33.63	38	SNP	1.000	A
DACT2	168002	genome.wustl.edu	37	6	168708721	168708721	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:168708721G>A	ENST00000366795.3	-	4	1804	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	DACT2_ENST00000366796.3_Intron|DACT2_ENST00000610183.1_Silent_p.L402L|DACT2_ENST00000607983.1_Silent_p.L164L	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	572					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		CCAAGGGGACGAGGACAGGCA	0.701																																						dbGAP											0													29.0	39.0	36.0					6																	168708721		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1716C>T	6.37:g.168708721G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	NULL	p.L572	ENST00000366795.3	37	c.1716	CCDS47519.1	6																																																																																			DACT2	-	NULL	ENSG00000164488		0.701	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1	56	0.00	0	G			168708721	168708721	-1	no_errors	ENST00000366795	ensembl	human	known	69_37n	silent	24	26.47	9	SNP	0.000	A
DAK	26007	genome.wustl.edu	37	11	61111711	61111711	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:61111711C>T	ENST00000394900.3	+	13	1435	c.1206C>T	c.(1204-1206)ggC>ggT	p.G402G		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	402	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGTGACGGCGACTGTGGCA	0.627																																						dbGAP											0													54.0	53.0	53.0					11																	61111711		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1206C>T	11.37:g.61111711C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	pfam_Dak1,pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	p.G402	ENST00000394900.3	37	c.1206	CCDS8003.1	11																																																																																			DAK	-	pfam_Dak2,superfamily_Dak2,tigrfam_DhaK_ATP	ENSG00000149476		0.627	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4	41	0.00	0	C	NM_015533		61111711	61111711	+1	no_errors	ENST00000394900	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	0.794	T
DAND5	199699	genome.wustl.edu	37	19	13084240	13084240	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:13084240G>A	ENST00000317060.2	+	2	541	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	121	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			ATACGCCTCCGAAATCATCTG	0.617																																						dbGAP											0													134.0	124.0	128.0					19																	13084240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.362G>A	19.37:g.13084240G>A	ENSP00000323155:p.Arg121Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DAN,pirsf_Cerberus	p.R121Q	ENST00000317060.2	37	c.362	CCDS12291.1	19	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455245	0.26161	.	.	ENSG00000179284	ENST00000317060	T	0.27104	1.69	5.84	-2.15	0.07102	DAN (1);	0.675439	0.12329	N	0.478527	T	0.09379	0.0231	N	0.11560	0.145	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.33624	-0.9861	10	0.16896	T	0.51	-5.7569	3.1859	0.06601	0.3948:0.0:0.2863:0.3189	.	121	Q8N907	DAND5_HUMAN	Q	121	ENSP00000323155:R121Q	ENSP00000323155:R121Q	R	+	2	0	DAND5	12945240	0.002000	0.14202	0.004000	0.12327	0.027000	0.11550	-0.080000	0.11339	-0.120000	0.11809	-0.137000	0.14449	CGA	DAND5	-	pfam_DAN,pirsf_Cerberus	ENSG00000179284		0.617	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DAND5	HGNC	protein_coding	OTTHUMT00000452761.1	120	0.00	0	G	NM_152654		13084240	13084240	+1	no_errors	ENST00000317060	ensembl	human	known	69_37n	missense	72	20.00	18	SNP	0.018	A
DAPL1	92196	genome.wustl.edu	37	2	159672276	159672276	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:159672276G>T	ENST00000309950.3	+	4	323	c.267G>T	c.(265-267)ctG>ctT	p.L89L	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	89					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CACCTGCTCTGGAAAAGGTTG	0.433																																						dbGAP											0													127.0	118.0	121.0					2																	159672276		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.267G>T	2.37:g.159672276G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJW9|B9EIK6	Silent	SNP	NULL	p.L89	ENST00000309950.3	37	c.267	CCDS33307.1	2																																																																																			DAPL1	-	NULL	ENSG00000163331		0.433	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPL1	HGNC	protein_coding	OTTHUMT00000333265.1	197	0.00	0	G	NM_001017920		159672276	159672276	+1	no_errors	ENST00000309950	ensembl	human	known	69_37n	silent	194	10.60	23	SNP	1.000	T
DAXX	1616	genome.wustl.edu	37	6	33286558	33286558	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:33286558C>T	ENST00000374542.5	-	8	2389	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N	ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000266000.6_Missense_Mutation_p.D729N|DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.D654N	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	729	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTTCTGGATCGCATTGTGTG	0.478			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	dbGAP		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													106.0	91.0	96.0					6																	33286558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.2185G>A	6.37:g.33286558C>T	ENSP00000363668:p.Asp729Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	pfam_Daxx	p.D729N	ENST00000374542.5	37	c.2185	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791290	0.90367	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	5.25	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.65975	2.015	0.48696	D	0.999696	D;D	0.89917	0.996;1.0	D;D	0.91635	0.949;0.999	T	0.74365	-0.3689	9	0.87932	D	0	-18.5604	11.6051	0.51026	0.0:0.9142:0.0:0.0858	.	741;729	B4E1C1;Q9UER7	.;DAXX_HUMAN	N	729;729;654	.	ENSP00000266000:D729N	D	-	1	0	DAXX	33394536	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.897000	0.69831	1.454000	0.47793	0.637000	0.83480	GAT	DAXX	-	pfam_Daxx	ENSG00000204209		0.478	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	119	0.00	0	C			33286558	33286558	-1	no_errors	ENST00000266000	ensembl	human	known	69_37n	missense	71	25.77	25	SNP	0.999	T
DBI	1622	genome.wustl.edu	37	2	120129876	120129876	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:120129876G>T	ENST00000355857.3	+	4	377	c.246G>T	c.(244-246)aaG>aaT	p.K82N	DBI_ENST00000535757.1_Missense_Mutation_p.K99N|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Missense_Mutation_p.K99N|DBI_ENST00000393103.2_Missense_Mutation_p.K83N|DBI_ENST00000311521.4_Missense_Mutation_p.K99N|DBI_ENST00000542275.1_Missense_Mutation_p.K143N|DBI_ENST00000535617.1_Missense_Mutation_p.K124N	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	82	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						AAGAGCTAAAGAAAAAATACG	0.413																																						dbGAP											0													139.0	129.0	133.0					2																	120129876		2203	4300	6503	-	-	-	SO:0001583	missense	0			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.246G>T	2.37:g.120129876G>T	ENSP00000348116:p.Lys82Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.K143N	ENST00000355857.3	37	c.429	CCDS42740.1	2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484639	0.63962	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.54	3.71	0.42584	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.047598	0.85682	D	0.000000	T	0.47619	0.1455	M	0.81112	2.525	0.50171	D	0.999853	D;D;D;D;P	0.89917	0.983;1.0;0.999;0.983;0.828	P;D;D;P;P	0.77557	0.86;0.99;0.979;0.908;0.752	T	0.44513	-0.9323	10	0.39692	T	0.17	-0.2317	8.6037	0.33760	0.1768:0.0:0.8232:0.0	.	92;124;83;99;82	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	N	82;124;99;99;99;143;83	ENSP00000348116:K82N;ENSP00000442917:K124N;ENSP00000439012:K99N;ENSP00000386486:K99N;ENSP00000311117:K99N;ENSP00000440698:K143N;ENSP00000376815:K83N	ENSP00000311117:K99N	K	+	3	2	DBI	119846346	0.995000	0.38212	0.999000	0.59377	0.788000	0.44548	1.395000	0.34520	1.571000	0.49722	0.655000	0.94253	AAG	DBI	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein	ENSG00000155368		0.413	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBI	HGNC	protein_coding	OTTHUMT00000330590.1	224	0.00	0	G	NM_020548		120129876	120129876	+1	no_errors	ENST00000542275	ensembl	human	known	69_37n	missense	107	18.94	25	SNP	0.994	T
DBN1	1627	genome.wustl.edu	37	5	176895200	176895200	+	Missense_Mutation	SNP	G	G	A	rs558662294		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176895200G>A	ENST00000309007.5	-	3	383	c.164C>T	c.(163-165)tCg>tTg	p.S55L	DBN1_ENST00000292385.5_Missense_Mutation_p.S57L|DBN1_ENST00000393565.1_Missense_Mutation_p.S55L	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	55	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTGTCCCGAAAGCTCCTG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		16297	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													148.0	153.0	152.0					5																	176895200		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.164C>T	5.37:g.176895200G>A	ENSP00000308532:p.Ser55Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.S57L	ENST00000309007.5	37	c.170	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924087	0.92319	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391;ENST00000514833	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.23	5.23	0.72850	Actin-binding, cofilin/tropomyosin type (3);	0.209886	0.41396	D	0.000888	T	0.40247	0.1109	N	0.16656	0.425	0.80722	D	1	D;D	0.71674	0.988;0.998	P;P	0.59889	0.775;0.865	T	0.13575	-1.0504	10	0.28530	T	0.3	-13.1018	17.7392	0.88403	0.0:0.0:1.0:0.0	.	55;57	Q16643;Q16643-2	DREB_HUMAN;.	L	55;57;55;54;55	ENSP00000308532:S55L;ENSP00000292385:S57L;ENSP00000377195:S55L;ENSP00000422854:S54L;ENSP00000421465:S55L	ENSP00000292385:S57L	S	-	2	0	DBN1	176827806	1.000000	0.71417	0.941000	0.38009	0.961000	0.63080	4.120000	0.57897	2.719000	0.93026	0.650000	0.86243	TCG	DBN1	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	ENSG00000113758		0.522	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	116	0.00	0	G	NM_080881		176895200	176895200	-1	no_errors	ENST00000292385	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	0.998	A
DCAF11	80344	genome.wustl.edu	37	14	24584924	24584924	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24584924G>T	ENST00000446197.3	+	2	848	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	DCAF11_ENST00000559115.1_Missense_Mutation_p.D41Y|DCAF11_ENST00000396936.1_5'UTR|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000396941.4_Missense_Mutation_p.D41Y|DCAF11_ENST00000560171.1_3'UTR	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	41					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGAAGATGTGGATCTGGCCCA	0.617																																						dbGAP											0													72.0	75.0	74.0					14																	24584924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.121G>T	14.37:g.24584924G>T	ENSP00000415556:p.Asp41Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D41Y	ENST00000446197.3	37	c.121	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	13.87	2.367136	0.41902	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941	T;T	0.72051	-0.06;-0.62	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.995	T	0.83212	-0.0073	10	0.62326	D	0.03	-17.2959	17.5333	0.87820	0.0:0.0:1.0:0.0	.	41;41	Q8TEB1-2;Q8TEB1	.;DCA11_HUMAN	Y	41	ENSP00000415556:D41Y;ENSP00000380146:D41Y	ENSP00000323680:D41Y	D	+	1	0	DCAF11	23654764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.844000	0.69430	2.734000	0.93682	0.484000	0.47621	GAT	DCAF11	-	pirsf_WD_repeat_p23	ENSG00000100897		0.617	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	40	0.00	0	G			24584924	24584924	+1	no_errors	ENST00000446197	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	T
DCAF12	25853	genome.wustl.edu	37	9	34093425	34093425	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:34093425A>G	ENST00000361264.4	-	7	1224	c.883T>C	c.(883-885)Tat>Cat	p.Y295H	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	295					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TCACGGCAATATGGCAGTTTG	0.498																																						dbGAP											0													118.0	99.0	106.0					9																	34093425		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.883T>C	9.37:g.34093425A>G	ENSP00000355114:p.Tyr295His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y295H	ENST00000361264.4	37	c.883	CCDS6549.1	9	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682380	0.47991	.	.	ENSG00000198876	ENST00000361264	T	0.56776	0.44	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.061993	0.64402	D	0.000002	T	0.38719	0.1051	N	0.20986	0.625	0.47476	D	0.999432	B	0.26672	0.156	B	0.28139	0.086	T	0.22765	-1.0207	10	0.14252	T	0.57	-16.0826	14.4143	0.67139	1.0:0.0:0.0:0.0	.	295	Q5T6F0	DCA12_HUMAN	H	295	ENSP00000355114:Y295H	ENSP00000355114:Y295H	Y	-	1	0	DCAF12	34083425	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.514000	0.67043	2.156000	0.67533	0.533000	0.62120	TAT	DCAF12	-	superfamily_WD40_repeat_dom	ENSG00000198876		0.498	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2	161	0.62	1	A	NM_015397		34093425	34093425	-1	no_errors	ENST00000361264	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	1.000	G
DCAF13	25879	genome.wustl.edu	37	8	104447988	104447988	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:104447988G>A	ENST00000297579.5	+	8	1653	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	307					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAATCTATTCGAATCTTTCCT	0.408																																						dbGAP											0													140.0	121.0	127.0					8																	104447988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.1376G>A	8.37:g.104447988G>A	ENSP00000297579:p.Arg459Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R459Q	ENST00000297579.5	37	c.1376	CCDS34934.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.505731	0.96371	.	.	ENSG00000164934	ENST00000297579	T	0.67865	-0.29	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.90158	0.4226	10	0.87932	D	0	-15.4823	19.1742	0.93597	0.0:0.0:1.0:0.0	.	307	Q9NV06	DCA13_HUMAN	Q	459	ENSP00000297579:R459Q	ENSP00000297579:R459Q	R	+	2	0	DCAF13	104517164	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.394000	0.97261	2.604000	0.88044	0.650000	0.86243	CGA	DCAF13	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000164934		0.408	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380797.2	252	0.40	1	G	NM_015420		104447988	104447988	+1	no_errors	ENST00000297579	ensembl	human	known	69_37n	missense	160	13.90	26	SNP	1.000	A
DCAF6	55827	genome.wustl.edu	37	1	168037611	168037611	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:168037611G>A	ENST00000312263.6	+	18	2632	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	DCAF6_ENST00000432587.2_Missense_Mutation_p.E870K|DCAF6_ENST00000367840.3_Missense_Mutation_p.E901K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E830K	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	810					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.E830K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AACTCGAAACGAACTCATGCT	0.378																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											112.0	104.0	107.0					1																	168037611		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2428G>A	1.37:g.168037611G>A	ENSP00000311949:p.Glu810Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.E901K	ENST00000312263.6	37	c.2701	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259650	0.80246	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.81908	-1.54;0.23;-1.55;-1.55	5.81	5.81	0.92471	.	0.105207	0.64402	D	0.000005	T	0.76378	0.3979	L	0.61218	1.895	0.45025	D	0.998041	B;P;P;B;B	0.49307	0.358;0.86;0.922;0.15;0.267	B;B;B;B;B	0.39339	0.066;0.297;0.266;0.052;0.132	T	0.77247	-0.2658	9	0.33940	T	0.23	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	870;483;901;810;830	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	K	830;870;810;901	ENSP00000356817:E830K;ENSP00000396238:E870K;ENSP00000311949:E810K;ENSP00000356814:E901K	ENSP00000311949:E810K	E	+	1	0	DCAF6	166304235	1.000000	0.71417	0.909000	0.35828	0.319000	0.28217	9.234000	0.95347	2.746000	0.94184	0.591000	0.81541	GAA	DCAF6	-	NULL	ENSG00000143164		0.378	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	334	0.60	2	G	NM_018442		168037611	168037611	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	missense	278	12.58	40	SNP	1.000	A
DCAF8L1	139425	genome.wustl.edu	37	X	27999139	27999139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:27999139C>A	ENST00000441525.1	-	1	427	c.313G>T	c.(313-315)Gaa>Taa	p.E105*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	105	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						tccatctcttcttcttcctcc	0.507																																						dbGAP											0													158.0	95.0	117.0					X																	27999139		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.313G>T	X.37:g.27999139C>A	ENSP00000405222:p.Glu105*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXX1	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E105*	ENST00000441525.1	37	c.313	CCDS35222.1	X	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947763	0.92593	.	.	ENSG00000226372	ENST00000441525	.	.	.	0.588	0.588	0.17445	.	0.693792	0.11676	N	0.540309	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	6.7759	0.23619	0.0:0.9998:0.0:2.0E-4	.	.	.	.	X	105	.	ENSP00000405222:E105X	E	-	1	0	DCAF8L1	27909060	0.002000	0.14202	0.116000	0.21606	0.632000	0.37999	1.168000	0.31859	0.527000	0.28560	0.179000	0.17066	GAA	DCAF8L1	-	NULL	ENSG00000226372		0.507	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L1	HGNC	protein_coding	OTTHUMT00000056150.2	309	0.00	0	C	XM_066690		27999139	27999139	-1	no_errors	ENST00000441525	ensembl	human	known	69_37n	nonsense	180	22.75	53	SNP	0.974	A
DCC	1630	genome.wustl.edu	37	18	50832017	50832017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:50832017C>T	ENST00000442544.2	+	13	2597	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R509*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R316*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	661	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R661*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTATAAAATTCGACACAGAAA	0.423																																						dbGAP											1	Substitution - Nonsense(1)	ovary(1)											72.0	82.0	79.0					18																	50832017		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1981C>T	18.37:g.50832017C>T	ENSP00000389140:p.Arg661*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R661*	ENST00000442544.2	37	c.1981	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	40	8.205656	0.98704	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.58	5.58	0.84498	.	0.086607	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7178	0.91682	0.0:1.0:0.0:0.0	.	.	.	.	X	661;594;509	.	ENSP00000304146:R594X	R	+	1	2	DCC	49086015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.710000	0.68392	2.774000	0.95407	0.655000	0.94253	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	178	0.00	0	C	NM_005215		50832017	50832017	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	nonsense	139	10.83	17	SNP	1.000	T
DCHS1	8642	genome.wustl.edu	37	11	6644713	6644713	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6644713C>T	ENST00000299441.3	-	21	8605	c.8194G>A	c.(8194-8196)Gac>Aac	p.D2732N	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2732	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATCCCCGTCGATTGCATGC	0.592																																						dbGAP											0													36.0	35.0	35.0					11																	6644713		2200	4294	6494	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8194G>A	11.37:g.6644713C>T	ENSP00000299441:p.Asp2732Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D2732N	ENST00000299441.3	37	c.8194	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470670	0.84533	.	.	ENSG00000166341	ENST00000299441	T	0.73152	-0.72	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	0.000000	0.40554	N	0.001061	D	0.90058	0.6895	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93303	0.6678	10	0.87932	D	0	.	17.8075	0.88606	0.0:1.0:0.0:0.0	.	2732	Q96JQ0	PCD16_HUMAN	N	2732	ENSP00000299441:D2732N	ENSP00000299441:D2732N	D	-	1	0	DCHS1	6601289	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.651000	0.83577	2.689000	0.91719	0.655000	0.94253	GAC	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	38	0.00	0	C	NM_003737		6644713	6644713	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	9	43.75	7	SNP	0.998	T
DCHS1	8642	genome.wustl.edu	37	11	6649860	6649860	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6649860C>T	ENST00000299441.3	-	13	5774	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1788	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTAGGATGCGGTACTGCAA	0.577																																						dbGAP											0													108.0	97.0	100.0					11																	6649860		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5363G>A	11.37:g.6649860C>T	ENSP00000299441:p.Arg1788His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R1788H	ENST00000299441.3	37	c.5363	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099071	0.56183	.	.	ENSG00000166341	ENST00000299441	T	0.53640	0.61	4.91	1.75	0.24633	Cadherin (4);Cadherin-like (1);	0.185307	0.27668	N	0.018349	T	0.23014	0.0556	N	0.05177	-0.1	0.28556	N	0.911378	B	0.14012	0.009	B	0.12837	0.008	T	0.13442	-1.0509	10	0.35671	T	0.21	.	8.0527	0.30587	0.0:0.6984:0.0:0.3016	.	1788	Q96JQ0	PCD16_HUMAN	H	1788	ENSP00000299441:R1788H	ENSP00000299441:R1788H	R	-	2	0	DCHS1	6606436	0.059000	0.20769	0.996000	0.52242	0.739000	0.42172	0.342000	0.19926	0.630000	0.30394	0.563000	0.77884	CGC	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	117	0.00	0	C	NM_003737		6649860	6649860	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	0.600	T
DCHS1	8642	genome.wustl.edu	37	11	6652319	6652319	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6652319G>C	ENST00000299441.3	-	9	4306	c.3895C>G	c.(3895-3897)Cct>Gct	p.P1299A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1299	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCGAGGAGGGCTGCCTTGG	0.627																																						dbGAP											0													37.0	30.0	32.0					11																	6652319		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3895C>G	11.37:g.6652319G>C	ENSP00000299441:p.Pro1299Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1299A	ENST00000299441.3	37	c.3895	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313193	0.60414	.	.	ENSG00000166341	ENST00000299441	T	0.56611	0.45	4.83	4.83	0.62350	Cadherin (4);Cadherin-like (1);	0.000000	0.39083	N	0.001476	T	0.65048	0.2654	M	0.82433	2.59	0.49213	D	0.999764	D	0.56968	0.978	P	0.54499	0.754	T	0.65249	-0.6214	10	0.31617	T	0.26	.	11.194	0.48703	0.0:0.1855:0.8145:0.0	.	1299	Q96JQ0	PCD16_HUMAN	A	1299	ENSP00000299441:P1299A	ENSP00000299441:P1299A	P	-	1	0	DCHS1	6608895	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	3.121000	0.50438	2.529000	0.85273	0.467000	0.42956	CCT	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.627	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	44	0.00	0	G	NM_003737		6652319	6652319	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.867	C
DCHS2	54798	genome.wustl.edu	37	4	155242040	155242040	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:155242040T>C	ENST00000357232.4	-	14	3145	c.3146A>G	c.(3145-3147)aAt>aGt	p.N1049S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1049	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGAATGGTCATTCTGATCTTC	0.423																																						dbGAP											0													142.0	135.0	137.0					4																	155242040		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3146A>G	4.37:g.155242040T>C	ENSP00000349768:p.Asn1049Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N1049S	ENST00000357232.4	37	c.3146	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414771	0.83449	.	.	ENSG00000197410	ENST00000357232	T	0.70749	-0.51	5.69	5.69	0.88448	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.89873	0.6841	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93302	0.6677	10	0.72032	D	0.01	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	1049	Q6V1P9	PCD23_HUMAN	S	1049	ENSP00000349768:N1049S	ENSP00000349768:N1049S	N	-	2	0	DCHS2	155461490	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.698000	0.84413	2.167000	0.68274	0.460000	0.39030	AAT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	522	0.00	0	T	NM_001142552		155242040	155242040	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	351	27.12	131	SNP	1.000	C
DCLK1	9201	genome.wustl.edu	37	13	36402431	36402431	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:36402431C>T	ENST00000360631.3	-	9	1454	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	DCLK1_ENST00000255448.4_Missense_Mutation_p.E415K|DCLK1_ENST00000379893.1_Missense_Mutation_p.E108K			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	415	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGAGCATACTCTCTAGCAGTC	0.323																																						dbGAP											0													88.0	83.0	85.0					13																	36402431		2202	4297	6499	-	-	-	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1243G>A	13.37:g.36402431C>T	ENSP00000353846:p.Glu415Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.E415K	ENST00000360631.3	37	c.1243		13	.	.	.	.	.	.	.	.	.	.	C	32	5.146478	0.94603	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.64618	-0.11;-0.11;-0.11	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	N	0.14661	0.345	0.80722	D	1	B;P;B	0.52170	0.09;0.951;0.09	B;P;B	0.57548	0.041;0.823;0.059	T	0.60296	-0.7291	10	0.31617	T	0.26	.	19.2273	0.93822	0.0:1.0:0.0:0.0	.	108;415;108	O15075-4;O15075-2;O15075-3	.;.;.	K	107;415;415;108;415	ENSP00000255448:E415K;ENSP00000353846:E415K;ENSP00000369223:E108K	ENSP00000255448:E415K	E	-	1	0	DCLK1	35300431	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.035000	0.76517	2.894000	0.99253	0.655000	0.94253	GAG	DCLK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000133083		0.323	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	126	0.00	0	C	NM_004734		36402431	36402431	-1	no_errors	ENST00000360631	ensembl	human	known	69_37n	missense	86	12.12	12	SNP	1.000	T
DCN	1634	genome.wustl.edu	37	12	91550935	91550935	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:91550935C>T	ENST00000052754.5	-	5	1070	c.569G>A	c.(568-570)gGa>gAa	p.G190E	DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.G81E|DCN_ENST00000552962.1_Missense_Mutation_p.G190E|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G190E|DCN_ENST00000441303.2_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.G81E|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	190					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATTTTCAATTCCTGAGCTCTT	0.418																																						dbGAP											0													132.0	127.0	129.0					12																	91550935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.569G>A	12.37:g.91550935C>T	ENSP00000052754:p.Gly190Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.G190E	ENST00000052754.5	37	c.569	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960541	0.92791	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.55588	0.51;3.62;0.51;0.51;3.62	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76138	-0.3069	10	0.87932	D	0	.	20.1197	0.97955	0.0:1.0:0.0:0.0	.	190;81	P07585;P07585-2	PGS2_HUMAN;.	E	190;81;190;190;81	ENSP00000052754:G190E;ENSP00000228329:G81E;ENSP00000376862:G190E;ENSP00000447654:G190E;ENSP00000413723:G81E	ENSP00000052754:G190E	G	-	2	0	DCN	90075066	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.714000	0.68422	2.747000	0.94245	0.585000	0.79938	GGA	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.418	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	276	0.00	0	C	NM_133507		91550935	91550935	-1	no_errors	ENST00000052754	ensembl	human	known	69_37n	missense	186	14.22	31	SNP	1.000	T
DCST1	149095	genome.wustl.edu	37	1	155020368	155020368	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155020368G>A	ENST00000295542.1	+	15	1814	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	DCST1_ENST00000423025.2_Missense_Mutation_p.R548Q|DCST1_ENST00000368419.2_Missense_Mutation_p.R573Q|DCST1_ENST00000392480.1_Missense_Mutation_p.R573Q|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	573						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TTTGGCTACCGACTCCGGAGG	0.607																																						dbGAP											0													114.0	122.0	119.0					1																	155020368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1718G>A	1.37:g.155020368G>A	ENSP00000295542:p.Arg573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.R573Q	ENST00000295542.1	37	c.1718	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879070	0.91740	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.22	5.22	0.72569	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.64402	D	0.000004	T	0.67571	0.2907	M	0.79123	2.44	0.47341	D	0.999397	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69011	-0.5258	10	0.46703	T	0.11	-26.7363	16.2935	0.82761	0.0:0.0:1.0:0.0	.	548;573	E9PHV3;Q5T197	.;DCST1_HUMAN	Q	573;573;548;573	ENSP00000295542:R573Q;ENSP00000376271:R573Q;ENSP00000387369:R548Q;ENSP00000357404:R573Q	ENSP00000295542:R573Q	R	+	2	0	DCST1	153286992	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.668000	0.83897	2.428000	0.82296	0.591000	0.81541	CGA	DCST1	-	pfam_DC_STAMP-like	ENSG00000163357		0.607	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	262	0.00	0	G	NM_152494		155020368	155020368	+1	no_errors	ENST00000295542	ensembl	human	known	69_37n	missense	133	29.47	56	SNP	1.000	A
DCT	1638	genome.wustl.edu	37	13	95092216	95092216	+	Missense_Mutation	SNP	C	C	T	rs562777602		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:95092216C>T	ENST00000377028.5	-	8	1909	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DCT_ENST00000446125.1_Missense_Mutation_p.R532Q	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	499					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R499Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATATCCTTTTCGAAGTCTTCT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18158	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											110.0	110.0	110.0					13																	95092216		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1496G>A	13.37:g.95092216C>T	ENSP00000366227:p.Arg499Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R532Q	ENST00000377028.5	37	c.1595	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239708	0.39598	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99186	-5.49;-5.53	4.88	3.15	0.36227	.	0.659026	0.15920	N	0.238177	D	0.94905	0.8353	N	0.17082	0.46	0.26679	N	0.971586	B;B	0.29037	0.181;0.231	B;B	0.16722	0.016;0.013	D	0.89949	0.4078	10	0.18710	T	0.47	-1.5464	7.8411	0.29400	0.0:0.7384:0.0:0.2616	.	532;499	Q09GT4;P40126	.;TYRP2_HUMAN	Q	499;532	ENSP00000366227:R499Q;ENSP00000392762:R532Q	ENSP00000366227:R499Q	R	-	2	0	DCT	93890217	0.753000	0.28349	0.256000	0.24389	0.997000	0.91878	2.269000	0.43346	0.582000	0.29556	0.563000	0.77884	CGA	DCT	-	NULL	ENSG00000080166		0.458	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	397	0.00	0	C			95092216	95092216	-1	no_errors	ENST00000446125	ensembl	human	known	69_37n	missense	212	19.70	52	SNP	0.305	T
DCT	1638	genome.wustl.edu	37	13	95121216	95121216	+	Missense_Mutation	SNP	G	G	A	rs556448735		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:95121216G>A	ENST00000377028.5	-	2	792	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	DCT_ENST00000446125.1_Missense_Mutation_p.R127W|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	127					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.R127W(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ATGTTCTGCCGAATCACTGGT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18073	0.001		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	lung(2)											189.0	192.0	191.0					13																	95121216		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.379C>T	13.37:g.95121216G>A	ENSP00000366227:p.Arg127Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R127W	ENST00000377028.5	37	c.379	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011676	0.54468	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99868	-7.32;-7.32	5.65	4.78	0.61160	Uncharacterised domain, di-copper centre (2);	0.058485	0.64402	D	0.000002	D	0.99896	0.9950	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96231	0.9168	9	.	.	.	-27.0169	14.2194	0.65815	0.0:0.0:0.7059:0.2941	.	127;127	Q09GT4;P40126	.;TYRP2_HUMAN	W	127	ENSP00000366227:R127W;ENSP00000392762:R127W	.	R	-	1	2	DCT	93919217	1.000000	0.71417	0.036000	0.18154	0.187000	0.23431	4.327000	0.59247	1.312000	0.45043	0.655000	0.94253	CGG	DCT	-	superfamily_Unchr_di-copper_centre	ENSG00000080166		0.512	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	214	0.00	0	G			95121216	95121216	-1	no_errors	ENST00000446125	ensembl	human	known	69_37n	missense	126	11.27	16	SNP	0.993	A
DCTD	1635	genome.wustl.edu	37	4	183815718	183815718	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:183815718C>T	ENST00000438320.2	-	4	575	c.285G>A	c.(283-285)tcG>tcA	p.S95S	DCTD_ENST00000510370.1_Silent_p.S95S|DCTD_ENST00000357067.3_Silent_p.S106S	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	95				S -> L (in Ref. 6; AAH01286). {ECO:0000305}.	nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	TCACATCGGTCGAATTTTTGT	0.438																																						dbGAP											0													210.0	169.0	183.0					4																	183815718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.285G>A	4.37:g.183815718C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Silent	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	p.S106	ENST00000438320.2	37	c.318	CCDS3831.1	4																																																																																			DCTD	-	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase	ENSG00000129187		0.438	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTD	HGNC	protein_coding	OTTHUMT00000361743.2	294	0.34	1	C			183815718	183815718	-1	no_errors	ENST00000357067	ensembl	human	known	69_37n	silent	140	11.95	19	SNP	0.491	T
DCTN2	10540	genome.wustl.edu	37	12	57927751	57927751	+	Missense_Mutation	SNP	G	G	T	rs566430018		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57927751G>T	ENST00000548249.1	-	7	921	c.654C>A	c.(652-654)ttC>ttA	p.F218L	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Missense_Mutation_p.F223L|DCTN2_ENST00000434715.3_Missense_Mutation_p.F223L|DCTN2_ENST00000537439.1_Missense_Mutation_p.F195L	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	218					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CAGCTTGAGAGAACTTGTCCT	0.527																																						dbGAP											0													118.0	124.0	122.0					12																	57927751		1930	4124	6054	-	-	-	SO:0001583	missense	0			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.654C>A	12.37:g.57927751G>T	ENSP00000447824:p.Phe218Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	pfam_Dynamitin_2su	p.F223L	ENST00000548249.1	37	c.669	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598834	0.46318	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550954	.	.	.	5.21	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	N	0.20483	0.58	0.58432	D	0.999997	P;P;P	0.36315	0.487;0.547;0.543	B;B;B	0.38985	0.189;0.245;0.287	T	0.08576	-1.0715	9	0.07813	T	0.8	-3.3999	9.8323	0.40950	0.1382:0.0:0.8618:0.0	.	218;223;218	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	L	218;223;223;195;218;131;102;232	.	ENSP00000346785:F218L	F	-	3	2	DCTN2	56214018	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.182000	0.42556	2.884000	0.98904	0.655000	0.94253	TTC	DCTN2	-	pfam_Dynamitin_2su	ENSG00000175203		0.527	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	HGNC	protein_coding	OTTHUMT00000407393.2	219	0.00	0	G	NM_006400		57927751	57927751	-1	no_errors	ENST00000434715	ensembl	human	known	69_37n	missense	222	16.85	45	SNP	1.000	T
DCTN6	10671	genome.wustl.edu	37	8	30032634	30032634	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30032634T>C	ENST00000221114.3	+	3	209	c.122T>C	c.(121-123)aTt>aCt	p.I41T	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Missense_Mutation_p.I41T	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	41					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AAAGCAAGAATTATTGCGGAA	0.438																																						dbGAP											0													52.0	49.0	50.0					8																	30032634		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.122T>C	8.37:g.30032634T>C	ENSP00000221114:p.Ile41Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC1	Missense_Mutation	SNP	superfamily_Trimer_LpxA-like	p.I41T	ENST00000221114.3	37	c.122	CCDS6076.1	8	.	.	.	.	.	.	.	.	.	.	T	19.34	3.808572	0.70797	.	.	ENSG00000104671	ENST00000221114;ENST00000520829	D;D	0.84730	-1.89;-1.89	5.58	5.58	0.84498	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.86651	2.83	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	D	0.93291	0.6668	9	.	.	.	-19.8439	13.711	0.62667	0.0:0.0:0.0:1.0	.	41	O00399	DCTN6_HUMAN	T	41	ENSP00000221114:I41T;ENSP00000431017:I41T	.	I	+	2	0	DCTN6	30152176	1.000000	0.71417	0.944000	0.38274	0.567000	0.35839	6.741000	0.74837	2.120000	0.65058	0.533000	0.62120	ATT	DCTN6	-	superfamily_Trimer_LpxA-like	ENSG00000104671		0.438	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN6	HGNC	protein_coding	OTTHUMT00000375815.2	139	0.00	0	T	NM_006571		30032634	30032634	+1	no_errors	ENST00000221114	ensembl	human	known	69_37n	missense	117	10.61	14	SNP	0.993	C
DCUN1D3	123879	genome.wustl.edu	37	16	20873485	20873485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20873485G>A	ENST00000324344.4	-	2	661	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Nonsense_Mutation_p.R126*	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	126	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGCAGCACTCGAAATTCTGTG	0.493																																						dbGAP											0													116.0	96.0	103.0					16																	20873485		2201	4300	6501	-	-	-	SO:0001587	stop_gained	0			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.376C>T	16.37:g.20873485G>A	ENSP00000319482:p.Arg126*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVY4	Nonsense_Mutation	SNP	pfam_PONY_dom	p.R126*	ENST00000324344.4	37	c.376	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.168701	0.94768	.	.	ENSG00000188215	ENST00000324344	.	.	.	5.8	1.2	0.21068	.	0.199105	0.42821	D	0.000651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-13.286	8.8074	0.34945	0.081:0.0:0.2675:0.6515	.	.	.	.	X	126	.	ENSP00000319482:R126X	R	-	1	2	DCUN1D3	20780986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.828000	0.48120	0.341000	0.23771	-0.182000	0.12963	CGA	DCUN1D3	-	NULL	ENSG00000188215		0.493	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	145	0.00	0	G	NM_173475		20873485	20873485	-1	no_errors	ENST00000324344	ensembl	human	known	69_37n	nonsense	97	16.24	19	SNP	1.000	A
DDB2	1643	genome.wustl.edu	37	11	47254427	47254427	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:47254427C>T	ENST00000256996.4	+	4	714	c.519C>T	c.(517-519)taC>taT	p.Y173Y	DDB2_ENST00000378603.3_Silent_p.Y109Y|DDB2_ENST00000378601.3_Silent_p.Y173Y|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	173					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						ACCAGTTTTACGCCTCCTCAA	0.463			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													167.0	138.0	148.0					11																	47254427		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.519C>T	11.37:g.47254427C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y173	ENST00000256996.4	37	c.519	CCDS7927.1	11																																																																																			DDB2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000134574		0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		248	0.00	0	C	NM_000107		47254427	47254427	+1	no_errors	ENST00000256996	ensembl	human	known	69_37n	silent	256	29.97	110	SNP	0.990	T
DDHD1	80821	genome.wustl.edu	37	14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000357758.3_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343																																						dbGAP											0													80.0	70.0	73.0					14																	53518604		1566	3579	5145	-	-	-	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2479C>A	14.37:g.53518604G>T	ENSP00000327104:p.Leu827Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.L827I	ENST00000323669.5	37	c.2479	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135008	0.56828	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	5.19	0.71726	DDHD (2);	0.301493	0.30969	N	0.008510	T	0.36413	0.0966	N	0.08118	0	0.80722	D	1	P	0.38048	0.616	B	0.42738	0.396	T	0.28138	-1.0053	9	0.31617	T	0.26	-10.4012	11.0964	0.48147	0.084:0.0:0.916:0.0	.	827	Q8NEL9	DDHD1_HUMAN	I	827;698	.	ENSP00000327104:L827I	L	-	1	0	DDHD1	52588354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.582000	0.49881	0.655000	0.94253	CTT	DDHD1	-	pfam_DDHD,pfscan_DDHD	ENSG00000100523		0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	240	0.41	1	G			53518604	53518604	-1	no_errors	ENST00000323669	ensembl	human	known	69_37n	missense	156	27.78	60	SNP	1.000	T
DDHD1	80821	genome.wustl.edu	37	14	53529767	53529767	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:53529767G>A	ENST00000323669.5	-	7	1659	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	DDHD1_ENST00000395606.1_Missense_Mutation_p.R561W|DDHD1_ENST00000357758.3_Missense_Mutation_p.R554W	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	554					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R554W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCATACAGCCGAACTGGATTC	0.393																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											158.0	150.0	153.0					14																	53529767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1660C>T	14.37:g.53529767G>A	ENSP00000327104:p.Arg554Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.R554W	ENST00000323669.5	37	c.1660	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720740	0.48728	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.42900	0.96;0.96;0.96	5.47	0.135	0.14775	.	0.333768	0.31612	N	0.007343	T	0.40719	0.1128	L	0.47716	1.5	0.32755	N	0.505925	D;D;D	0.64830	0.994;0.994;0.986	P;P;P	0.52710	0.707;0.614;0.599	T	0.51220	-0.8733	10	0.59425	D	0.04	-2.1826	5.9826	0.19415	0.0658:0.1017:0.4032:0.4294	.	561;554;554	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	W	554;561;554;425	ENSP00000327104:R554W;ENSP00000378970:R561W;ENSP00000350401:R554W	ENSP00000327104:R554W	R	-	1	2	DDHD1	52599517	1.000000	0.71417	0.578000	0.28575	0.182000	0.23217	2.824000	0.48088	-0.276000	0.09206	0.585000	0.79938	CGG	DDHD1	-	NULL	ENSG00000100523		0.393	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	164	0.00	0	G			53529767	53529767	-1	no_errors	ENST00000323669	ensembl	human	known	69_37n	missense	75	33.04	37	SNP	0.973	A
DDHD1	80821	genome.wustl.edu	37	14	53560117	53560117	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:53560117C>T	ENST00000323669.5	-	3	1057	c.1058G>A	c.(1057-1059)aGt>aAt	p.S353N	DDHD1_ENST00000395606.1_Missense_Mutation_p.S360N|DDHD1_ENST00000357758.3_Missense_Mutation_p.S353N	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	353					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTCATCCACACTGTGCCAGTC	0.333																																						dbGAP											0													127.0	116.0	120.0					14																	53560117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1058G>A	14.37:g.53560117C>T	ENSP00000327104:p.Ser353Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.S353N	ENST00000323669.5	37	c.1058	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456205	0.63401	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.57	5.57	0.84162	.	0.037016	0.85682	D	0.000000	T	0.63117	0.2484	M	0.75777	2.31	0.58432	D	0.999994	B;B;B	0.32188	0.054;0.356;0.359	B;B;B	0.35413	0.106;0.086;0.202	T	0.61277	-0.7095	9	0.30854	T	0.27	-13.9614	12.8328	0.57756	0.0:0.9252:0.0:0.0748	.	360;353;353	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	N	353;360;353;224;67	.	ENSP00000327104:S353N	S	-	2	0	DDHD1	52629867	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.096000	0.57734	2.614000	0.88457	0.305000	0.20034	AGT	DDHD1	-	NULL	ENSG00000100523		0.333	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	304	0.00	0	C			53560117	53560117	-1	no_errors	ENST00000323669	ensembl	human	known	69_37n	missense	158	24.76	52	SNP	1.000	T
DDHD2	23259	genome.wustl.edu	37	8	38111104	38111104	+	Missense_Mutation	SNP	T	T	C	rs74861669		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38111104T>C	ENST00000397166.2	+	16	2447	c.1922T>C	c.(1921-1923)gTt>gCt	p.V641A	DDHD2_ENST00000529845.1_Missense_Mutation_p.V92A|DDHD2_ENST00000520272.2_Missense_Mutation_p.V641A|DDHD2_ENST00000517385.1_Missense_Mutation_p.V260A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	641	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCTGTGGCAGTTAAAGAAGAA	0.413																																						dbGAP											0													147.0	141.0	143.0					8																	38111104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1922T>C	8.37:g.38111104T>C	ENSP00000380352:p.Val641Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.V641A	ENST00000397166.2	37	c.1922	CCDS34883.1	8	.	.	.	.	.	.	.	.	.	.	T	5.352	0.250162	0.10130	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845;ENST00000528613	T;T	0.28666	1.6;1.6	5.35	-3.97	0.04094	DDHD (2);	0.750628	0.12188	N	0.491496	T	0.11324	0.0276	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.34004	-0.9846	10	0.08599	T	0.76	-6.0445	0.7286	0.00953	0.3089:0.2527:0.1055:0.3329	.	641	O94830	DDHD2_HUMAN	A	641;641;260;92;9	ENSP00000380352:V641A;ENSP00000429932:V641A	ENSP00000380352:V641A	V	+	2	0	DDHD2	38230261	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.454000	0.02381	-0.427000	0.07350	-0.532000	0.04303	GTT	DDHD2	-	pfam_DDHD,pfscan_DDHD	ENSG00000085788		0.413	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	283	0.00	0	T	XM_291291		38111104	38111104	+1	no_errors	ENST00000397166	ensembl	human	known	69_37n	missense	256	10.54	31	SNP	0.000	C
DDI1	414301	genome.wustl.edu	37	11	103908260	103908260	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:103908260G>T	ENST00000302259.3	+	1	953	c.710G>T	c.(709-711)aGt>aTt	p.S237I	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	237							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCCCCCGAGAGTTTTGGACAA	0.478																																						dbGAP											0													118.0	132.0	127.0					11																	103908260		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.710G>T	11.37:g.103908260G>T	ENSP00000302805:p.Ser237Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S237I	ENST00000302259.3	37	c.710	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571235	0.45798	.	.	ENSG00000170967	ENST00000302259	T	0.40756	1.02	5.12	4.21	0.49690	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.60957	1.885	0.48087	D	0.999584	D	0.55605	0.972	P	0.60541	0.876	T	0.50092	-0.8868	10	0.22109	T	0.4	-14.5769	13.8518	0.63501	0.0:0.1541:0.8459:0.0	.	237	Q8WTU0	DDI1_HUMAN	I	237	ENSP00000302805:S237I	ENSP00000302805:S237I	S	+	2	0	DDI1	103413470	1.000000	0.71417	0.995000	0.50966	0.287000	0.27160	7.213000	0.77950	1.535000	0.49220	-0.150000	0.13652	AGT	DDI1	-	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	ENSG00000170967		0.478	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	65	0.00	0	G	NM_001001711		103908260	103908260	+1	no_errors	ENST00000302259	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
DDI1	414301	genome.wustl.edu	37	11	103908577	103908577	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:103908577G>A	ENST00000302259.3	+	1	1270	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	343							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ATGTTCCATCGATTTGAAGAA	0.463																																						dbGAP											0													118.0	113.0	115.0					11																	103908577		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1027G>A	11.37:g.103908577G>A	ENSP00000302805:p.Asp343Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_Ubiquitin,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.D343N	ENST00000302259.3	37	c.1027	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888892	0.52014	.	.	ENSG00000170967	ENST00000302259	T	0.54479	0.57	5.21	4.31	0.51392	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.79926	2.475	0.49582	D	0.999802	D	0.89917	1.0	D	0.91635	0.999	T	0.76429	-0.2962	10	0.87932	D	0	-10.0159	12.1992	0.54315	0.0823:0.0:0.9177:0.0	.	343	Q8WTU0	DDI1_HUMAN	N	343	ENSP00000302805:D343N	ENSP00000302805:D343N	D	+	1	0	DDI1	103413787	1.000000	0.71417	0.876000	0.34364	0.147000	0.21601	4.927000	0.63440	1.593000	0.50029	-0.123000	0.14984	GAT	DDI1	-	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,superfamily_Peptidase_aspartic	ENSG00000170967		0.463	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	99	0.00	0	G	NM_001001711		103908577	103908577	+1	no_errors	ENST00000302259	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.988	A
DDIT4L	115265	genome.wustl.edu	37	4	101108892	101108892	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:101108892C>T	ENST00000273990.2	-	3	738	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	175					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		CTTAACAAGTCGAAATCCTGA	0.393																																						dbGAP											0													65.0	71.0	69.0					4																	101108892		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.524G>A	4.37:g.101108892C>T	ENSP00000354830:p.Arg175Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C3	Missense_Mutation	SNP	pfam_RTP801-like	p.R175Q	ENST00000273990.2	37	c.524	CCDS34036.1	4	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790977	0.90367	.	.	ENSG00000145358	ENST00000273990;ENST00000502763	T;T	0.47869	0.83;0.83	5.95	5.95	0.96441	.	0.085570	0.49305	D	0.000157	T	0.67069	0.2854	M	0.71036	2.16	0.40377	D	0.9794	D	0.89917	1.0	D	0.72625	0.978	T	0.69986	-0.4996	10	0.87932	D	0	-5.0474	14.0536	0.64754	0.151:0.849:0.0:0.0	.	175	Q96D03	DDT4L_HUMAN	Q	175	ENSP00000354830:R175Q;ENSP00000427301:R175Q	ENSP00000354830:R175Q	R	-	2	0	DDIT4L	101327915	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.479000	0.60236	2.824000	0.97209	0.655000	0.94253	CGA	DDIT4L	-	pfam_RTP801-like	ENSG00000145358		0.393	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	75	0.00	0	C	NM_145244		101108892	101108892	-1	no_errors	ENST00000273990	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	T
DDR1	780	genome.wustl.edu	37	6	30862373	30862373	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:30862373G>A	ENST00000324771.8	+	13	1986	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	DDR1_ENST00000508312.1_Missense_Mutation_p.E498K|DDR1_ENST00000418800.2_Missense_Mutation_p.E480K|DDR1_ENST00000452441.1_Missense_Mutation_p.E480K|DDR1_ENST00000376568.3_Missense_Mutation_p.E480K|DDR1_ENST00000376567.2_Missense_Mutation_p.E480K|DDR1_ENST00000376570.4_Missense_Mutation_p.E480K|DDR1_ENST00000376569.3_Missense_Mutation_p.E480K|DDR1_ENST00000361741.4_Silent_p.E183E|DDR1_ENST00000513240.1_Missense_Mutation_p.E480K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.E480K|DDR1_ENST00000454612.2_Missense_Mutation_p.E480K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	480	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGTCCTAGAGAGCCACCCCC	0.617																																						dbGAP											0													108.0	103.0	105.0					6																	30862373		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1438G>A	6.37:g.30862373G>A	ENSP00000318217:p.Glu480Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom	p.E480K	ENST00000324771.8	37	c.1438	CCDS34385.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.52|18.52	3.641576|3.641576	0.67244|0.67244	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240|ENST00000514434	T;T;T;T;T;T;T;T;T;T;T|T	0.75154|0.44881	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91|0.91	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.074501|.	0.52532|.	D|.	0.000069|.	T|T	0.21186|0.21186	0.0510|0.0510	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	P;P;B|.	0.40931|.	0.634;0.733;0.276|.	B;B;B|.	0.39119|.	0.145;0.291;0.083|.	T|T	0.05194|0.05194	-1.0900|-1.0900	10|6	0.20046|.	T|.	0.44|.	.|.	9.855|9.855	0.41079|0.41079	0.0932:0.0:0.9068:0.0|0.0932:0.0:0.9068:0.0	.|.	498;480;480|.	B7Z2K0;Q08345-5;Q08345|.	.;.;DDR1_HUMAN|.	K|K	480;480;480;480;480;480;480;480;498;480;480|8	ENSP00000318217:E480K;ENSP00000407699:E480K;ENSP00000406091:E480K;ENSP00000365753:E480K;ENSP00000365759:E480K;ENSP00000365754:E480K;ENSP00000365752:E480K;ENSP00000405039:E480K;ENSP00000422442:E498K;ENSP00000365751:E480K;ENSP00000427552:E480K|ENSP00000427124:R8K	ENSP00000318217:E480K|.	E|R	+|+	1|2	0|0	DDR1|DDR1	30970352|30970352	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.984000|0.984000	0.73092|0.73092	2.057000|2.057000	0.41365|0.41365	2.459000|2.459000	0.83118|0.83118	0.552000|0.552000	0.68991|0.68991	GAG|AGA	DDR1	-	NULL	ENSG00000204580		0.617	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	160	0.00	0	G	NM_013994		30862373	30862373	+1	no_errors	ENST00000376575	ensembl	human	known	69_37n	missense	116	12.78	17	SNP	1.000	A
DDRGK1	65992	genome.wustl.edu	37	20	3180667	3180667	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:3180667G>A	ENST00000354488.3	-	4	547	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	DDRGK1_ENST00000380201.2_Missense_Mutation_p.R164C	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	164						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TCCTCCAGGCGAAGCCGCTCC	0.612																																						dbGAP											0													88.0	69.0	75.0					20																	3180667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.490C>T	20.37:g.3180667G>A	ENSP00000346483:p.Arg164Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.R164C	ENST00000354488.3	37	c.490	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190214	0.78789	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.51325	0.71	5.35	5.35	0.76521	.	0.059853	0.64402	D	0.000002	T	0.69940	0.3167	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.73975	-0.3813	10	0.72032	D	0.01	-7.9057	14.5665	0.68179	0.0:0.0:1.0:0.0	.	164;164	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	C	164	ENSP00000346483:R164C	ENSP00000346483:R164C	R	-	1	0	DDRGK1	3128667	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.470000	0.66756	2.503000	0.84419	0.655000	0.94253	CGC	DDRGK1	-	pfam_DDRGK_dom-contain	ENSG00000198171		0.612	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	76	0.00	0	G	NM_023935		3180667	3180667	-1	no_errors	ENST00000354488	ensembl	human	known	69_37n	missense	58	36.26	33	SNP	0.999	A
DDX10	1662	genome.wustl.edu	37	11	108546439	108546439	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:108546439G>A	ENST00000322536.3	+	3	493	c.364G>A	c.(364-366)Gct>Act	p.A122T	DDX10_ENST00000526794.1_Missense_Mutation_p.A122T	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	122	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAAGACTCTGGCTTTTCTTGT	0.413			T	NUP98	AML*																																	dbGAP		Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0													156.0	148.0	151.0					11																	108546439		2201	4298	6499	-	-	-	SO:0001583	missense	0			U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.364G>A	11.37:g.108546439G>A	ENSP00000314348:p.Ala122Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCQ3|Q5BJD8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A122T	ENST00000322536.3	37	c.364	CCDS8342.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.615526	0.96649	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.21361	2.01;2.01	5.82	5.82	0.92795	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.096318	0.64402	D	0.000001	T	0.52403	0.1732	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76071	0.987;0.978	T	0.54050	-0.8351	10	0.87932	D	0	-4.0035	20.1566	0.98115	0.0:0.0:1.0:0.0	.	122;122	Q13206;E9PIF2	DDX10_HUMAN;.	T	122	ENSP00000314348:A122T;ENSP00000432032:A122T	ENSP00000314348:A122T	A	+	1	0	DDX10	108051649	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.413000	0.97351	2.779000	0.95612	0.603000	0.83216	GCT	DDX10	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000178105		0.413	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	HGNC	protein_coding	OTTHUMT00000390343.1	431	0.00	0	G	NM_004398		108546439	108546439	+1	no_errors	ENST00000322536	ensembl	human	known	69_37n	missense	299	13.54	47	SNP	1.000	A
DDX18	8886	genome.wustl.edu	37	2	118575069	118575069	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:118575069A>C	ENST00000263239.2	+	2	263	c.135A>C	c.(133-135)gaA>gaC	p.E45D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	45					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGTATCTGAAGAAACAATGG	0.378																																						dbGAP											0													46.0	52.0	50.0					2																	118575069		2203	4299	6502	-	-	-	SO:0001583	missense	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.135A>C	2.37:g.118575069A>C	ENSP00000263239:p.Glu45Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E45D	ENST00000263239.2	37	c.135	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	A	7.979	0.750729	0.15778	.	.	ENSG00000088205	ENST00000263239	T	0.22945	1.93	3.45	2.25	0.28309	.	0.831997	0.11024	N	0.608027	T	0.22859	0.0552	L	0.60455	1.87	0.20638	N	0.999879	B	0.02656	0.0	B	0.04013	0.001	T	0.26780	-1.0093	10	0.23302	T	0.38	-0.1899	6.9174	0.24367	0.765:0.235:0.0:0.0	.	45	Q9NVP1	DDX18_HUMAN	D	45	ENSP00000263239:E45D	ENSP00000263239:E45D	E	+	3	2	DDX18	118291539	0.329000	0.24696	0.709000	0.30452	0.315000	0.28087	1.000000	0.29770	0.672000	0.31204	0.533000	0.62120	GAA	DDX18	-	NULL	ENSG00000088205		0.378	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	75	0.00	0	A	NM_006773		118575069	118575069	+1	no_errors	ENST00000263239	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	0.750	C
DDX18	8886	genome.wustl.edu	37	2	118586966	118586966	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:118586966C>A	ENST00000263239.2	+	13	1922	c.1794C>A	c.(1792-1794)atC>atA	p.I598I		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	598					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAAACAGATCTTTAATGTTA	0.358																																						dbGAP											0													131.0	130.0	130.0					2																	118586966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1794C>A	2.37:g.118586966C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I598	ENST00000263239.2	37	c.1794	CCDS2120.1	2																																																																																			DDX18	-	NULL	ENSG00000088205		0.358	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	179	0.00	0	C	NM_006773		118586966	118586966	+1	no_errors	ENST00000263239	ensembl	human	known	69_37n	silent	134	25.56	46	SNP	1.000	A
DDX23	9416	genome.wustl.edu	37	12	49224335	49224335	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:49224335C>T	ENST00000308025.3	-	17	2459	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	794	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTGGCTAGTTCGGGGGGACAG	0.562																																						dbGAP											0													114.0	101.0	106.0					12																	49224335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.2380G>A	12.37:g.49224335C>T	ENSP00000310723:p.Glu794Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E794K	ENST00000308025.3	37	c.2380	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.587142	0.86851	.	.	ENSG00000174243	ENST00000308025	T	0.23147	1.92	5.97	5.97	0.96955	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25232	0.0613	L	0.58969	1.84	0.80722	D	1	P	0.44776	0.843	B	0.28916	0.096	T	0.08848	-1.0702	10	0.51188	T	0.08	-22.4039	19.1994	0.93704	0.0:1.0:0.0:0.0	.	794	Q9BUQ8	DDX23_HUMAN	K	794	ENSP00000310723:E794K	ENSP00000310723:E794K	E	-	1	0	DDX23	47510602	1.000000	0.71417	0.992000	0.48379	0.886000	0.51366	7.758000	0.85224	2.837000	0.97791	0.655000	0.94253	GAA	DDX23	-	pfscan_Helicase_C	ENSG00000174243		0.562	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	152	0.00	0	C	NM_004818		49224335	49224335	-1	no_errors	ENST00000308025	ensembl	human	known	69_37n	missense	83	27.12	32	SNP	1.000	T
DDX25	29118	genome.wustl.edu	37	11	125775965	125775965	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:125775965C>A	ENST00000263576.6	+	4	330				PUS3_ENST00000227474.3_5'Flank|RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_Intron	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25						mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TTTTGCTTTTCTAGTGGATTT	0.388																																						dbGAP											0													90.0	76.0	80.0					11																	125775965		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.176-4C>A	11.37:g.125775965C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S1Y	ENST00000263576.6	37	c.2	CCDS44766.1	11																																																																																			DDX25	-	NULL	ENSG00000109832		0.388	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX25	HGNC	protein_coding	OTTHUMT00000386736.3	140	0.00	0	C	NM_013264		125775965	125775965	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000526875	ensembl	human	novel	69_37n	missense	77	13.48	12	SNP	0.001	A
DDX26B	203522	genome.wustl.edu	37	X	134683699	134683699	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:134683699C>A	ENST00000370752.4	+	7	1209	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	292										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCAGAATCTTTTTGGCCA	0.358																																						dbGAP											0													170.0	160.0	163.0					X																	134683699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.875C>A	X.37:g.134683699C>A	ENSP00000359788:p.Ser292Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.S292Y	ENST00000370752.4	37	c.875	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844417	0.91197	.	.	ENSG00000165359	ENST00000370752	T	0.58940	0.3	5.54	5.54	0.83059	.	0.051107	0.85682	D	0.000000	T	0.75517	0.3860	M	0.84219	2.685	0.80722	D	1	D	0.62365	0.991	P	0.58577	0.841	T	0.80134	-0.1509	10	0.87932	D	0	-9.3261	17.4185	0.87507	0.0:1.0:0.0:0.0	.	292	Q5JSJ4	DX26B_HUMAN	Y	292	ENSP00000359788:S292Y	ENSP00000359788:S292Y	S	+	2	0	DDX26B	134511365	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.782000	0.85680	2.327000	0.79052	0.594000	0.82650	TCT	DDX26B	-	NULL	ENSG00000165359		0.358	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	431	0.00	0	C	NM_182540		134683699	134683699	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	386	12.87	57	SNP	1.000	A
DDX26B	203522	genome.wustl.edu	37	X	134685926	134685926	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:134685926G>A	ENST00000370752.4	+	8	1248	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	305										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					taGCCTCCACGAACATCTCAT	0.348																																						dbGAP											0													85.0	65.0	72.0					X																	134685926		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.914G>A	X.37:g.134685926G>A	ENSP00000359788:p.Arg305Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.R305Q	ENST00000370752.4	37	c.914	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.270856	0.95429	.	.	ENSG00000165359	ENST00000370752	T	0.31247	1.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70313	-0.4906	10	0.62326	D	0.03	-11.6516	17.5691	0.87930	0.0:0.0:1.0:0.0	.	305	Q5JSJ4	DX26B_HUMAN	Q	305	ENSP00000359788:R305Q	ENSP00000359788:R305Q	R	+	2	0	DDX26B	134513592	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.363000	0.80096	0.600000	0.82982	CGA	DDX26B	-	NULL	ENSG00000165359		0.348	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	339	0.00	0	G	NM_182540		134685926	134685926	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	210	28.72	85	SNP	1.000	A
DDX26B	203522	genome.wustl.edu	37	X	134713933	134713933	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:134713933A>C	ENST00000370752.4	+	15	2563	c.2229A>C	c.(2227-2229)aaA>aaC	p.K743N	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	743										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGAGCCAAAAACTGCAGTC	0.453																																						dbGAP											0													91.0	80.0	84.0					X																	134713933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2229A>C	X.37:g.134713933A>C	ENSP00000359788:p.Lys743Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.K743N	ENST00000370752.4	37	c.2229	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	A	0.762	-0.769006	0.02974	.	.	ENSG00000165359	ENST00000370752	T	0.31247	1.5	5.51	2.98	0.34508	.	1.354990	0.04036	N	0.302351	T	0.31482	0.0798	L	0.55481	1.735	0.09310	N	1	B;B	0.19583	0.017;0.037	B;B	0.20184	0.028;0.028	T	0.30851	-0.9964	10	0.18276	T	0.48	0.0322	8.6491	0.34025	0.7504:0.0:0.2496:0.0	.	743;743	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	N	743	ENSP00000359788:K743N	ENSP00000359788:K743N	K	+	3	2	DDX26B	134541599	0.954000	0.32549	0.001000	0.08648	0.016000	0.09150	2.238000	0.43070	0.271000	0.22005	0.486000	0.48141	AAA	DDX26B	-	NULL	ENSG00000165359		0.453	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	249	0.00	0	A	NM_182540		134713933	134713933	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	165	23.61	51	SNP	0.003	C
DDX27	55661	genome.wustl.edu	37	20	47839534	47839534	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47839534G>A	ENST00000371764.4	+	3	383	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	125	Asp/Glu/Lys-rich.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGAAAGTTCGAAAGAAAAGG	0.408																																						dbGAP											0													82.0	81.0	81.0					20																	47839534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.374G>A	20.37:g.47839534G>A	ENSP00000360828:p.Arg125Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R125Q	ENST00000371764.4	37	c.374	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.119838	0.94385	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	T	0.01474	4.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.08046	-1.0741	10	0.48119	T	0.1	-7.9613	16.0731	0.80948	0.0:0.0:1.0:0.0	.	125	Q96GQ7	DDX27_HUMAN	Q	125	ENSP00000360828:R125Q	ENSP00000360828:R125Q	R	+	2	0	DDX27	47272941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.067000	0.89488	2.941000	0.99782	0.655000	0.94253	CGA	DDX27	-	NULL	ENSG00000124228		0.408	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	215	0.00	0	G			47839534	47839534	+1	no_errors	ENST00000371764	ensembl	human	known	69_37n	missense	120	25.47	41	SNP	1.000	A
DDX27	55661	genome.wustl.edu	37	20	47841658	47841658	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47841658A>G	ENST00000371764.4	+	6	624	c.615A>G	c.(613-615)ggA>ggG	p.G205G	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	205						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGAAGCAGGAGGATTTTTTG	0.433																																						dbGAP											0													114.0	117.0	116.0					20																	47841658		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.615A>G	20.37:g.47841658A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G205	ENST00000371764.4	37	c.615	CCDS13416.1	20																																																																																			DDX27	-	NULL	ENSG00000124228		0.433	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	194	0.51	1	A			47841658	47841658	+1	no_errors	ENST00000371764	ensembl	human	known	69_37n	silent	169	26.84	62	SNP	0.994	G
DDX27	55661	genome.wustl.edu	37	20	47860368	47860368	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47860368G>T	ENST00000371764.4	+	21	2397	c.2388G>T	c.(2386-2388)aaG>aaT	p.K796N	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	796						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGAGGAGGAAGTAGCTGTCGT	0.428																																						dbGAP											0													83.0	90.0	88.0					20																	47860368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.2388G>T	20.37:g.47860368G>T	ENSP00000360828:p.Lys796Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.K796N	ENST00000371764.4	37	c.2388	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807959	0.50421	.	.	ENSG00000124228	ENST00000371764	T	0.01548	4.78	5.8	3.87	0.44632	.	0.000000	0.64402	D	0.000011	T	0.03564	0.0102	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.58470	-0.7631	10	0.72032	D	0.01	.	8.813	0.34978	0.1704:0.0:0.8296:0.0	.	796	Q96GQ7	DDX27_HUMAN	N	796	ENSP00000360828:K796N	ENSP00000360828:K796N	K	+	3	2	DDX27	47293775	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.703000	0.37846	0.800000	0.34041	0.655000	0.94253	AAG	DDX27	-	NULL	ENSG00000124228		0.428	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	445	0.00	0	G			47860368	47860368	+1	no_errors	ENST00000371764	ensembl	human	known	69_37n	missense	432	17.24	90	SNP	1.000	T
DDX3X	1654	genome.wustl.edu	37	X	41203505	41203505	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:41203505C>A	ENST00000399959.2	+	10	1733	c.878C>A	c.(877-879)tCt>tAt	p.S293Y	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_Silent_p.I308I|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.S277Y|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	293	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCATACCGATCTAGAGTTCGT	0.368										HNSCC(61;0.18)																												dbGAP											0													204.0	187.0	193.0					X																	41203505		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.878C>A	X.37:g.41203505C>A	ENSP00000382840:p.Ser293Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S293Y	ENST00000399959.2	37	c.878	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	c	27.7	4.853049	0.91355	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.04654	3.58;3.58	5.71	5.71	0.89125	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	L	0.56199	1.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.997;0.999;0.999	T	0.00080	-1.2109	10	0.87932	D	0	-6.2614	18.8917	0.92407	0.0:1.0:0.0:0.0	.	293;277;293;305;293	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	Y	293;277	ENSP00000382840:S293Y;ENSP00000392494:S277Y	ENSP00000382840:S293Y	S	+	2	0	DDX3X	41088449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.770000	0.85390	2.408000	0.81797	0.597000	0.82753	TCT	DDX3X	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000215301		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	571	0.00	0	C	NM_024005		41203505	41203505	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	missense	395	14.69	68	SNP	1.000	A
DDX4	54514	genome.wustl.edu	37	5	55081639	55081639	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:55081639C>T	ENST00000505374.1	+	13	896	c.804C>T	c.(802-804)ttC>ttT	p.F268F	DDX4_ENST00000514278.2_Silent_p.F248F|DDX4_ENST00000511853.1_Silent_p.F119F|DDX4_ENST00000353507.5_Silent_p.F234F|DDX4_ENST00000354991.5_Silent_p.F234F	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	268					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCATAAACTTCGACAAATACG	0.413																																						dbGAP											0													99.0	82.0	88.0					5																	55081639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.804C>T	5.37:g.55081639C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif	p.S174L	ENST00000505374.1	37	c.521	CCDS3969.1	5																																																																																			DDX4	-	NULL	ENSG00000152670		0.413	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	176	0.00	0	C	NM_024415		55081639	55081639	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000503129	ensembl	human	known	69_37n	missense	122	12.23	17	SNP	1.000	T
DDX42	11325	genome.wustl.edu	37	17	61895377	61895377	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:61895377G>A	ENST00000578681.1	+	19	3037	c.2436G>A	c.(2434-2436)gaG>gaA	p.E812E	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Silent_p.E812E|DDX42_ENST00000359353.5_Silent_p.E693E|DDX42_ENST00000457800.2_Silent_p.E812E|DDX42_ENST00000389924.2_Silent_p.E812E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	812	Gly-rich.|Necessary for interaction with TP53BP2.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATATACTGAGAACCGGGGCA	0.582																																						dbGAP											0													43.0	42.0	42.0					17																	61895377		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2436G>A	17.37:g.61895377G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E812	ENST00000578681.1	37	c.2436	CCDS32704.1	17																																																																																			DDX42	-	NULL	ENSG00000198231		0.582	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	120	0.00	0	G	NM_007372		61895377	61895377	+1	no_errors	ENST00000389924	ensembl	human	known	69_37n	silent	60	15.49	11	SNP	0.996	A
DDX46	9879	genome.wustl.edu	37	5	134102657	134102657	+	Missense_Mutation	SNP	G	G	A	rs188688500		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:134102657G>A	ENST00000354283.4	+	3	392	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	DDX46_ENST00000452510.2_Missense_Mutation_p.R86Q			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	86	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R86Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGATCTCGAAGTAGAGAC	0.473													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16803	0.0		0.0	False		,,,				2504	0.0				Colon(13;391 453 4901 21675 24897)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											47.0	55.0	52.0					5																	134102657		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.257G>A	5.37:g.134102657G>A	ENSP00000346236:p.Arg86Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R86Q	ENST00000354283.4	37	c.257	CCDS34240.1	5	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.22	3.333321	0.60853	.	.	ENSG00000145833	ENST00000452510;ENST00000537371;ENST00000354283	T;T	0.51817	0.69;0.69	5.35	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.84948	2.725	0.58432	D	0.999999	B	0.25105	0.118	B	0.18871	0.023	T	0.49661	-0.8916	10	0.14252	T	0.57	-6.5749	13.8629	0.63571	0.073:0.0:0.927:0.0	.	86	Q7L014	DDX46_HUMAN	Q	86	ENSP00000416534:R86Q;ENSP00000346236:R86Q	ENSP00000346236:R86Q	R	+	2	0	DDX46	134130556	1.000000	0.71417	0.961000	0.40146	0.993000	0.82548	8.075000	0.89502	1.261000	0.44149	0.561000	0.74099	CGA	DDX46	-	NULL	ENSG00000145833		0.473	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	181	0.00	0	G	NM_014829		134102657	134102657	+1	no_errors	ENST00000452510	ensembl	human	known	69_37n	missense	138	11.54	18	SNP	0.996	A
DDX46	9879	genome.wustl.edu	37	5	134147520	134147520	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:134147520G>T	ENST00000354283.4	+	18	2556	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	DDX46_ENST00000452510.2_Missense_Mutation_p.E807D			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	807					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGATGATGAGGATGCTGCAG	0.368																																					Colon(13;391 453 4901 21675 24897)	dbGAP											0													124.0	126.0	125.0					5																	134147520		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2421G>T	5.37:g.134147520G>T	ENSP00000346236:p.Glu807Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E807D	ENST00000354283.4	37	c.2421	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452756	0.26074	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.27890	1.64;1.65	5.07	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.31752	0.955	0.58432	D	0.999999	B	0.18013	0.025	B	0.25614	0.062	T	0.05484	-1.0882	10	0.23891	T	0.37	-20.921	6.9505	0.24542	0.4768:0.0:0.5232:0.0	.	807	Q7L014	DDX46_HUMAN	D	807	ENSP00000416534:E807D;ENSP00000346236:E807D	ENSP00000346236:E807D	E	+	3	2	DDX46	134175419	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.601000	0.36773	0.650000	0.30769	-0.339000	0.08088	GAG	DDX46	-	NULL	ENSG00000145833		0.368	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	283	0.00	0	G	NM_014829		134147520	134147520	+1	no_errors	ENST00000452510	ensembl	human	known	69_37n	missense	146	27.72	56	SNP	1.000	T
DDX53	168400	genome.wustl.edu	37	X	23019818	23019818	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:23019818T>A	ENST00000327968.5	+	1	1732	c.1644T>A	c.(1642-1644)atT>atA	p.I548I	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	548	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CAAGGAATATTGACGTATATG	0.398																																						dbGAP											0													121.0	112.0	115.0					X																	23019818		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1644T>A	X.37:g.23019818T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2N2|Q6NVV4	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I548	ENST00000327968.5	37	c.1644	CCDS35214.1	X																																																																																			DDX53	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000184735		0.398	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	HGNC	protein_coding	OTTHUMT00000056043.1	177	0.00	0	T	NM_182699		23019818	23019818	+1	no_errors	ENST00000327968	ensembl	human	known	69_37n	silent	128	14.67	22	SNP	0.655	A
DDX60	55601	genome.wustl.edu	37	4	169190081	169190081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:169190081C>A	ENST00000393743.3	-	20	3001	c.2710G>T	c.(2710-2712)Gaa>Taa	p.E904*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	904	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGGAGATGTTCCCAGATTTCT	0.353																																						dbGAP											0													106.0	102.0	103.0					4																	169190081		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2710G>T	4.37:g.169190081C>A	ENSP00000377344:p.Glu904*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK35|Q9NVE3	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E904*	ENST00000393743.3	37	c.2710	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	45	11.880354	0.99613	.	.	ENSG00000137628	ENST00000393743	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1245	0.93376	0.0:1.0:0.0:0.0	.	.	.	.	X	904	.	ENSP00000377344:E904X	E	-	1	0	DDX60	169426656	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.940000	0.63533	2.628000	0.89032	0.455000	0.32223	GAA	DDX60	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000137628		0.353	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	338	0.00	0	C	NM_017631		169190081	169190081	-1	no_errors	ENST00000393743	ensembl	human	known	69_37n	nonsense	187	18.34	42	SNP	1.000	A
DDX60	55601	genome.wustl.edu	37	4	169204666	169204666	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:169204666C>T	ENST00000393743.3	-	13	1944	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	551					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CGATGATTTTCGAAGAGACTG	0.353																																						dbGAP											0													66.0	68.0	67.0					4																	169204666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1653G>A	4.37:g.169204666C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK35|Q9NVE3	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S551	ENST00000393743.3	37	c.1653	CCDS34097.1	4																																																																																			DDX60	-	NULL	ENSG00000137628		0.353	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	339	0.00	0	C	NM_017631		169204666	169204666	-1	no_errors	ENST00000393743	ensembl	human	known	69_37n	silent	201	18.95	47	SNP	0.895	T
DDX60L	91351	genome.wustl.edu	37	4	169296663	169296663	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:169296663C>T	ENST00000511577.1	-	34	4745	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	DDX60L_ENST00000260184.7_Missense_Mutation_p.E1500K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1500							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCCGGGAGTTCGGCAAGGATC	0.388																																						dbGAP											0													56.0	50.0	52.0					4																	169296663		1808	4074	5882	-	-	-	SO:0001583	missense	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4498G>A	4.37:g.169296663C>T	ENSP00000422423:p.Glu1500Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1500K	ENST00000511577.1	37	c.4498		4	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132309	0.08981	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.16897	2.31;2.31	3.36	2.51	0.30379	.	.	.	.	.	T	0.08179	0.0204	L	0.36672	1.1	0.22171	N	0.99931	D	0.56035	0.974	B	0.32677	0.15	T	0.17349	-1.0372	9	0.09338	T	0.73	.	6.3926	0.21595	0.0:0.7599:0.0:0.2401	.	1500	Q5H9U9	DDX6L_HUMAN	K	1500	ENSP00000260184:E1500K;ENSP00000422423:E1500K	ENSP00000260184:E1500K	E	-	1	0	DDX60L	169533238	0.024000	0.19004	0.024000	0.17045	0.050000	0.14768	1.411000	0.34702	0.504000	0.28082	0.467000	0.42956	GAA	DDX60L	-	NULL	ENSG00000181381		0.388	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	165	0.00	0	C	NM_001012967		169296663	169296663	-1	no_errors	ENST00000260184	ensembl	human	known	69_37n	missense	85	12.37	12	SNP	0.910	T
DDX60L	91351	genome.wustl.edu	37	4	169325143	169325143	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:169325143T>G	ENST00000511577.1	-	25	3575	c.3328A>C	c.(3328-3330)Ata>Cta	p.I1110L	DDX60L_ENST00000260184.7_Missense_Mutation_p.I1110L|DDX60L_ENST00000505890.1_Missense_Mutation_p.I1110L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1110							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAAAAAAATATTGCAGGCAAC	0.284																																						dbGAP											0													33.0	30.0	31.0					4																	169325143		1792	4050	5842	-	-	-	SO:0001583	missense	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3328A>C	4.37:g.169325143T>G	ENSP00000422423:p.Ile1110Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1110L	ENST00000511577.1	37	c.3328		4	.	.	.	.	.	.	.	.	.	.	T	1.479	-0.557756	0.03967	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;D;T	0.91180	2.03;2.03;-2.8;2.72	3.53	-7.05	0.01573	.	0.584154	0.13038	U	0.418767	T	0.73666	0.3616	N	0.12961	0.28	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.13407	0.003;0.009;0.003	T	0.65340	-0.6192	10	0.07644	T	0.81	.	7.2883	0.26352	0.0947:0.0932:0.6852:0.1269	.	1110;1110;1110	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	L	1110;1110;1110;806	ENSP00000260184:I1110L;ENSP00000422423:I1110L;ENSP00000422202:I1110L;ENSP00000421026:I806L	ENSP00000260184:I1110L	I	-	1	0	DDX60L	169561718	0.000000	0.05858	0.014000	0.15608	0.604000	0.37047	-3.340000	0.00506	-1.748000	0.01332	-0.644000	0.03951	ATA	DDX60L	-	NULL	ENSG00000181381		0.284	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	74	0.00	0	T	NM_001012967		169325143	169325143	-1	no_errors	ENST00000260184	ensembl	human	known	69_37n	missense	43	33.85	22	SNP	0.243	G
DDX60L	91351	genome.wustl.edu	37	4	169362504	169362504	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:169362504C>A	ENST00000511577.1	-	10	1525	c.1278G>T	c.(1276-1278)gaG>gaT	p.E426D	DDX60L_ENST00000260184.7_Missense_Mutation_p.E426D|DDX60L_ENST00000505890.1_Missense_Mutation_p.E426D			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	426							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGACCGATTTCTCTTGTCTAA	0.353																																						dbGAP											0													93.0	91.0	92.0					4																	169362504		1839	4078	5917	-	-	-	SO:0001583	missense	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1278G>T	4.37:g.169362504C>A	ENSP00000422423:p.Glu426Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E426D	ENST00000511577.1	37	c.1278		4	.	.	.	.	.	.	.	.	.	.	C	2.244	-0.373167	0.05034	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.17854	2.25;2.25;2.25;2.93	3.1	-6.2	0.02072	.	3.343950	0.02482	U	0.088594	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24941	-1.0146	10	0.18276	T	0.48	.	3.7398	0.08526	0.3712:0.2031:0.0:0.4257	.	426;426;426	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	D	426;426;426;154	ENSP00000260184:E426D;ENSP00000422423:E426D;ENSP00000422202:E426D;ENSP00000421026:E154D	ENSP00000260184:E426D	E	-	3	2	DDX60L	169599079	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.522000	0.02237	-2.923000	0.00303	-0.657000	0.03884	GAG	DDX60L	-	NULL	ENSG00000181381		0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	145	0.00	0	C	NM_001012967		169362504	169362504	-1	no_errors	ENST00000260184	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	0.000	A
DEF6	50619	genome.wustl.edu	37	6	35287666	35287666	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:35287666G>A	ENST00000316637.5	+	9	1458	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DEF6_ENST00000542066.1_Missense_Mutation_p.E230K	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	485	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCGCTACATCGAACGGGCGCA	0.612																																						dbGAP											0													31.0	29.0	29.0					6																	35287666		2194	4294	6488	-	-	-	SO:0001583	missense	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1453G>A	6.37:g.35287666G>A	ENSP00000319831:p.Glu485Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E485K	ENST00000316637.5	37	c.1453	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165253	0.21538	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.71698	1.76;-0.59	4.87	4.87	0.63330	.	0.331824	0.29335	N	0.012457	T	0.41419	0.1158	L	0.44542	1.39	0.38772	D	0.95457	D;P;P	0.62365	0.991;0.892;0.892	B;B;B	0.42062	0.374;0.15;0.15	T	0.48927	-0.8991	10	0.07325	T	0.83	-13.9527	9.7925	0.40715	0.1298:0.0:0.8702:0.0	.	230;485;485	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	K	230;485	ENSP00000442166:E230K;ENSP00000319831:E485K	ENSP00000319831:E485K	E	+	1	0	DEF6	35395644	0.997000	0.39634	0.997000	0.53966	0.924000	0.55760	2.310000	0.43708	2.398000	0.81561	0.561000	0.74099	GAA	DEF6	-	NULL	ENSG00000023892		0.612	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	108	0.00	0	G	NM_022047		35287666	35287666	+1	no_errors	ENST00000316637	ensembl	human	known	69_37n	missense	73	16.09	14	SNP	0.999	A
DEFB108B	245911	genome.wustl.edu	37	11	71544297	71544297	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:71544297C>A	ENST00000328698.1	+	1	52	c.52C>A	c.(52-54)Cta>Ata	p.L18I		NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	18					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GAGCCAAGTTCTACCAGGTAA	0.398																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"""Defensins, beta"""	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.52C>A	11.37:g.71544297C>A	ENSP00000333234:p.Leu18Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L18I	ENST00000328698.1	37	c.52	CCDS31631.1	11	.	.	.	.	.	.	.	.	.	.	.	14.31	2.496808	0.44352	.	.	ENSG00000184276	ENST00000328698	T	0.12255	2.7	1.53	1.53	0.23141	.	.	.	.	.	T	0.09686	0.0238	.	.	.	0.09310	N	0.999997	D	0.55385	0.971	B	0.39119	0.291	T	0.25328	-1.0135	8	0.87932	D	0	.	6.5837	0.22609	0.0:1.0:0.0:0.0	.	18	Q8NET1	D108B_HUMAN	I	18	ENSP00000333234:L18I	ENSP00000333234:L18I	L	+	1	2	DEFB108B	71221945	0.368000	0.25031	0.577000	0.28562	0.979000	0.70002	-0.050000	0.11904	1.192000	0.43071	0.486000	0.48141	CTA	DEFB108B	-	NULL	ENSG00000184276		0.398	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB108B	HGNC	protein_coding	OTTHUMT00000394945.1	91	0.00	0	C	NM_001002035		71544297	71544297	+1	no_errors	ENST00000328698	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	0.677	A
DEFB119	245932	genome.wustl.edu	37	20	29964984	29964984	+	3'UTR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:29964984T>G	ENST00000376321.3	-	0	439				DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR|SNORA40_ENST00000390832.1_RNA	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACATGAATTTTAATGAGGGG	0.488																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.*65A>C	20.37:g.29964984T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	RNA	SNP	-	NULL	ENST00000376321.3	37	NULL	CCDS13178.1	20																																																																																			DEFB119	-	-	ENSG00000180483		0.488	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	HGNC	protein_coding	OTTHUMT00000078514.1	161	0.00	0	T	NM_153289		29964984	29964984	-1	no_errors	ENST00000492344	ensembl	human	known	69_37n	rna	162	28.95	66	SNP	0.994	G
DEFB121	245934	genome.wustl.edu	37	20	30000597	30000597	+	5'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:30000597C>T	ENST00000376312.3	-	0	44							Q5J5C9	DB121_HUMAN	defensin, beta 121						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CATCTCAAATCTAAGACCCAG	0.473																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AI476463	CCDS33456.1	20q11.1	2008-07-17			ENSG00000204548	ENSG00000204548		"""Defensins, beta"""	18101	protein-coding gene	gene with protein product	"""defensin, beta 21"""					11854508	Standard	NM_001011878		Approved	DEFB-21	uc021wbq.1	Q5J5C9	OTTHUMG00000032171	ENST00000376312.3:c.-414G>A	20.37:g.30000597C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N1	RNA	SNP	-	NULL	ENST00000376312.3	37	NULL		20																																																																																			DEFB121	-	-	ENSG00000204548		0.473	DEFB121-001	KNOWN	basic	processed_transcript	DEFB121	HGNC	protein_coding	OTTHUMT00000078511.1	64	0.00	0	C	NM_001011878		30000597	30000597	-1	no_errors	ENST00000376312	ensembl	human	known	69_37n	rna	50	35.06	27	SNP	0.029	T
DENND1B	163486	genome.wustl.edu	37	1	197522230	197522230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197522230G>A	ENST00000367396.3	-	16	1331	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	DENND1B_ENST00000235453.4_Nonsense_Mutation_p.R358*|DENND1B_ENST00000400967.2_Nonsense_Mutation_p.R358*	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	388	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R358*(1)|p.R388*(1)|p.R28*(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTGCCAGTCGACCATCGATA	0.299																																						dbGAP											3	Substitution - Nonsense(3)	lung(3)											83.0	78.0	79.0					1																	197522230		1819	4073	5892	-	-	-	SO:0001587	stop_gained	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1162C>T	1.37:g.197522230G>A	ENSP00000356366:p.Arg388*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R388*	ENST00000367396.3	37	c.1162	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	G	39	7.456509	0.98296	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1292	18.2005	0.89836	0.0:0.0:1.0:0.0	.	.	.	.	X	28;388;368;358;388;358	.	ENSP00000235453:R358X	R	-	1	2	DENND1B	195788853	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.073000	0.57570	2.801000	0.96364	0.650000	0.86243	CGA	DENND1B	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000213047		0.299	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	439	0.23	1	G	NM_144977		197522230	197522230	-1	no_errors	ENST00000367396	ensembl	human	known	69_37n	nonsense	265	10.40	31	SNP	1.000	A
DENND1B	163486	genome.wustl.edu	37	1	197522236	197522236	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:197522236C>T	ENST00000367396.3	-	16	1325	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	DENND1B_ENST00000235453.4_Missense_Mutation_p.D356N|DENND1B_ENST00000400967.2_Missense_Mutation_p.D356N	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	386	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGTCGACCATCGATAAACTAG	0.303																																						dbGAP											0													78.0	73.0	74.0					1																	197522236		1809	4068	5877	-	-	-	SO:0001583	missense	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1156G>A	1.37:g.197522236C>T	ENSP00000356366:p.Asp386Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D386N	ENST00000367396.3	37	c.1156	CCDS41452.2	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233119	0.79688	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419;ENST00000235453;ENST00000367396;ENST00000400967	T;T;T;T	0.53206	0.63;0.85;0.85;0.85	5.59	5.59	0.84812	dDENN (3);	0.047266	0.85682	D	0.000000	T	0.61627	0.2362	M	0.79258	2.445	0.50039	D	0.999842	P;P;B	0.47841	0.901;0.798;0.314	P;P;B	0.48982	0.597;0.466;0.232	T	0.66674	-0.5864	10	0.87932	D	0	-21.387	18.2005	0.89836	0.0:1.0:0.0:0.0	.	386;386;356	Q6P3S1-5;Q6P3S1;Q6P3S1-4	.;DEN1B_HUMAN;.	N	26;386;366;356;386;356	ENSP00000375839:D26N;ENSP00000235453:D356N;ENSP00000356366:D386N;ENSP00000383751:D356N	ENSP00000235453:D356N	D	-	1	0	DENND1B	195788859	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.582000	0.74049	2.801000	0.96364	0.650000	0.86243	GAT	DENND1B	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000213047		0.303	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	427	0.00	0	C	NM_144977		197522236	197522236	-1	no_errors	ENST00000367396	ensembl	human	known	69_37n	missense	192	32.52	93	SNP	1.000	T
DENND1C	79958	genome.wustl.edu	37	19	6468041	6468041	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6468041G>A	ENST00000381480.2	-	23	1992	c.1880C>T	c.(1879-1881)tCg>tTg	p.S627L	DENND1C_ENST00000543576.1_Missense_Mutation_p.S583L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	627					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						ATCCAAAGACGAGGCATTTTG	0.552																																						dbGAP											0													39.0	39.0	39.0					19																	6468041		1997	4169	6166	-	-	-	SO:0001583	missense	0			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1880C>T	19.37:g.6468041G>A	ENSP00000370889:p.Ser627Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S627L	ENST00000381480.2	37	c.1880	CCDS45938.1	19	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576669	0.28092	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09350	3.16;2.99	3.89	-1.5	0.08691	.	2.561400	0.02061	N	0.050811	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.33085	-0.9882	10	0.23302	T	0.38	-3.6797	5.5673	0.17177	0.1247:0.0:0.2461:0.6292	.	627	Q8IV53	DEN1C_HUMAN	L	627;583	ENSP00000370889:S627L;ENSP00000437805:S583L	ENSP00000370889:S627L	S	-	2	0	DENND1C	6419041	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.563000	0.05943	-0.025000	0.13918	0.305000	0.20034	TCG	DENND1C	-	NULL	ENSG00000205744		0.552	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2	141	0.00	0	G	NM_024898		6468041	6468041	-1	no_errors	ENST00000381480	ensembl	human	known	69_37n	missense	66	24.14	21	SNP	0.000	A
DENND2D	79961	genome.wustl.edu	37	1	111740539	111740539	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:111740539G>A	ENST00000357640.4	-	4	656				DENND2D_ENST00000473682.1_5'UTR|CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000369752.5_Intron	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D						positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GAGCTGCACAGACCAAGAGGC	0.537																																						dbGAP											0													81.0	73.0	76.0					1																	111740539		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.426+2C>T	1.37:g.111740539G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5V6|Q9BSU0	RNA	SNP	-	NULL	ENST00000357640.4	37	NULL	CCDS831.1	1																																																																																			DENND2D	-	-	ENSG00000162777		0.537	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND2D	HGNC	protein_coding	OTTHUMT00000034456.1	145	0.00	0	G	NM_024901		111740539	111740539	-1	no_errors	ENST00000473682	ensembl	human	known	69_37n	rna	66	23.26	20	SNP	0.939	A
DENND4A	10260	genome.wustl.edu	37	15	65960037	65960037	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:65960037G>T	ENST00000431932.2	-	28	5067	c.4859C>A	c.(4858-4860)tCt>tAt	p.S1620Y	DENND4A_ENST00000443035.3_Missense_Mutation_p.S1663Y	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1620					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAAACCTAAAGAATCCTGTTG	0.323																																						dbGAP											0													70.0	68.0	69.0					15																	65960037		1807	4080	5887	-	-	-	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4859C>A	15.37:g.65960037G>T	ENSP00000396830:p.Ser1620Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.S1663Y	ENST00000431932.2	37	c.4988	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073813	0.55646	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05258	3.47;3.47	5.41	5.41	0.78517	.	0.444427	0.24654	N	0.036683	T	0.10508	0.0257	L	0.50333	1.59	0.39236	D	0.963763	P;B	0.37955	0.612;0.412	B;B	0.37091	0.241;0.172	T	0.04103	-1.0977	10	0.66056	D	0.02	.	19.5488	0.95310	0.0:0.0:1.0:0.0	.	1663;1620	E7EPL3;Q7Z401	.;MYCPP_HUMAN	Y	1663;1620	ENSP00000391167:S1663Y;ENSP00000396830:S1620Y	ENSP00000396830:S1620Y	S	-	2	0	DENND4A	63747091	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	8.457000	0.90361	2.680000	0.91292	0.650000	0.86243	TCT	DENND4A	-	NULL	ENSG00000174485		0.323	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	156	0.00	0	G	NM_005848		65960037	65960037	-1	no_errors	ENST00000443035	ensembl	human	known	69_37n	missense	108	18.80	25	SNP	1.000	T
DENND4B	9909	genome.wustl.edu	37	1	153914409	153914409	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153914409G>A	ENST00000361217.4	-	6	1409	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	331	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGGCGCGGAAGGCAGGG	0.682																																						dbGAP											0													39.0	47.0	44.0					1																	153914409		2174	4262	6436	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.991C>T	1.37:g.153914409G>A	ENSP00000354597:p.Arg331Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R331C	ENST00000361217.4	37	c.991	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198185	0.79015	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12879	2.64;2.64	4.39	3.46	0.39613	DENN (3);	0.360525	0.26300	N	0.025176	T	0.19287	0.0463	M	0.90369	3.11	0.53688	D	0.999979	D	0.65815	0.995	P	0.48141	0.568	T	0.19160	-1.0314	10	0.87932	D	0	-11.1706	12.5133	0.56017	0.0:0.0:0.8313:0.1687	.	331	O75064	DEN4B_HUMAN	C	331;342	ENSP00000354597:R331C;ENSP00000357635:R342C	ENSP00000354597:R331C	R	-	1	0	DENND4B	152181033	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	2.970000	0.49240	1.053000	0.40415	0.462000	0.41574	CGC	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.682	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	25	0.00	0	G	XM_375806		153914409	153914409	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
DENND4C	55667	genome.wustl.edu	37	9	19324380	19324380	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:19324380C>T	ENST00000380432.2	+	9	1153	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	DENND4C_ENST00000602925.1_Missense_Mutation_p.R610C|DENND4C_ENST00000434457.2_Missense_Mutation_p.R610C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	374	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAGTCGAGATCGTGCCTATGC	0.279																																						dbGAP											0													60.0	69.0	66.0					9																	19324380		2202	4293	6495	-	-	-	SO:0001583	missense	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1120C>T	9.37:g.19324380C>T	ENSP00000369797:p.Arg374Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R374C	ENST00000380432.2	37	c.1120		9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655475	0.88056	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.44	4.44	0.53790	dDENN (3);	0.211167	0.50627	D	0.000109	T	0.79246	0.4413	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82464	-0.0444	9	0.87932	D	0	-15.0336	17.5987	0.88020	0.0:1.0:0.0:0.0	.	374	Q5VZ89	DEN4C_HUMAN	C	374	.	ENSP00000369802:R374C	R	+	1	0	DENND4C	19314380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.458000	0.83093	0.591000	0.81541	CGT	DENND4C	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000137145		0.279	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		184	0.00	0	C	NM_017925		19324380	19324380	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	missense	102	22.73	30	SNP	1.000	T
DENND4C	55667	genome.wustl.edu	37	9	19346106	19346106	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:19346106G>A	ENST00000380432.2	+	18	2517	c.2484G>A	c.(2482-2484)tcG>tcA	p.S828S	DENND4C_ENST00000602925.1_Silent_p.S1064S|DENND4C_ENST00000434457.2_Silent_p.S1113S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	828					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S828S(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTTTGGATTCGAATTCAAGTG	0.398																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											157.0	148.0	151.0					9																	19346106		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2484G>A	9.37:g.19346106G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S828	ENST00000380432.2	37	c.2484		9																																																																																			DENND4C	-	NULL	ENSG00000137145		0.398	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		212	0.47	1	G	NM_017925		19346106	19346106	+1	no_errors	ENST00000380437	ensembl	human	known	69_37n	silent	120	12.41	17	SNP	0.963	A
DENND5B	160518	genome.wustl.edu	37	12	31605337	31605337	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:31605337T>G	ENST00000389082.5	-	5	1430	c.1166A>C	c.(1165-1167)aAa>aCa	p.K389T	DENND5B_ENST00000306833.6_Missense_Mutation_p.K424T|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Missense_Mutation_p.K411T|DENND5B_ENST00000536562.1_Missense_Mutation_p.K424T	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	389					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAAATCCACTTTATTGGGGAA	0.398																																						dbGAP											0													63.0	62.0	62.0					12																	31605337		1844	4110	5954	-	-	-	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1166A>C	12.37:g.31605337T>G	ENSP00000373734:p.Lys389Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.K424T	ENST00000389082.5	37	c.1271	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294959	0.60086	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.08896	3.56;3.66;3.66;3.04;3.05	4.67	3.53	0.40419	.	0.131959	0.49916	D	0.000130	T	0.21881	0.0527	M	0.69823	2.125	0.50313	D	0.999862	B;P;P;P;B	0.52577	0.38;0.845;0.954;0.858;0.214	B;P;P;B;B	0.60609	0.398;0.733;0.877;0.412;0.398	T	0.00350	-1.1797	10	0.51188	T	0.08	-8.0872	10.0074	0.41965	0.0:0.0794:0.0:0.9206	.	424;311;411;389;424	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	T	389;424;424;411;341	ENSP00000373734:K389T;ENSP00000306482:K424T;ENSP00000444889:K424T;ENSP00000346238:K411T;ENSP00000442938:K341T	ENSP00000306482:K424T	K	-	2	0	DENND5B	31496604	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	4.804000	0.62554	0.827000	0.34685	0.460000	0.39030	AAA	DENND5B	-	NULL	ENSG00000170456		0.398	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	191	0.00	0	T	NM_144973		31605337	31605337	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	missense	142	21.11	38	SNP	1.000	G
DENND5B	160518	genome.wustl.edu	37	12	31605371	31605371	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:31605371C>A	ENST00000389082.5	-	5	1396	c.1132G>T	c.(1132-1134)Gag>Tag	p.E378*	DENND5B_ENST00000306833.6_Nonsense_Mutation_p.E413*|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000354285.4_Nonsense_Mutation_p.E400*|DENND5B_ENST00000536562.1_Nonsense_Mutation_p.E413*	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	378					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCAGGCAACTCAATAAAATGG	0.363																																						dbGAP											0													51.0	49.0	50.0					12																	31605371		1830	4112	5942	-	-	-	SO:0001587	stop_gained	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1132G>T	12.37:g.31605371C>A	ENSP00000373734:p.Glu378*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E413*	ENST00000389082.5	37	c.1237	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.198890	0.94997	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-27.9592	17.7861	0.88538	0.0:1.0:0.0:0.0	.	.	.	.	X	378;413;413;400;330	.	ENSP00000306482:E413X	E	-	1	0	DENND5B	31496638	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.452000	0.80683	2.421000	0.82119	0.563000	0.77884	GAG	DENND5B	-	NULL	ENSG00000170456		0.363	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	156	0.00	0	C	NM_144973		31605371	31605371	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	nonsense	113	15.67	21	SNP	1.000	A
DEPDC1	55635	genome.wustl.edu	37	1	68948067	68948067	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:68948067A>G	ENST00000456315.2	-	8	1538	c.1424T>C	c.(1423-1425)aTt>aCt	p.I475T	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	475					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TGGCTTTTGAATATTTTCCTC	0.363																																						dbGAP											0													46.0	44.0	44.0					1																	68948067		1568	3580	5148	-	-	-	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1424T>C	1.37:g.68948067A>G	ENSP00000412292:p.Ile475Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.I475T	ENST00000456315.2	37	c.1424	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771402	0.00645	.	.	ENSG00000024526	ENST00000456315	T	0.10005	2.92	5.61	-11.2	0.00127	Rho GTPase activation protein (1);	2.152600	0.01671	N	0.025634	T	0.00666	0.0022	N	0.08118	0	0.29700	N	0.840274	B	0.02656	0.0	B	0.01281	0.0	T	0.34825	-0.9813	10	0.02654	T	1	2.6478	0.5213	0.00613	0.3226:0.2068:0.2549:0.2157	.	475	Q5TB30	DEP1A_HUMAN	T	475	ENSP00000412292:I475T	ENSP00000412292:I475T	I	-	2	0	DEPDC1	68720655	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.224000	0.01213	-2.359000	0.00611	-2.664000	0.00146	ATT	DEPDC1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000024526		0.363	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	230	0.00	0	A	NM_017779		68948067	68948067	-1	no_errors	ENST00000456315	ensembl	human	known	69_37n	missense	149	17.22	31	SNP	0.000	G
DEPDC5	9681	genome.wustl.edu	37	22	32188763	32188763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32188763C>T	ENST00000382112.3	+	11	797	c.727C>T	c.(727-729)Cga>Tga	p.R243*	DEPDC5_ENST00000400248.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000400242.3_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000536766.1_Nonsense_Mutation_p.R215*|DEPDC5_ENST00000382111.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000382105.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000535622.1_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000266091.3_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000400249.2_Nonsense_Mutation_p.R243*|DEPDC5_ENST00000400246.1_Nonsense_Mutation_p.R243*	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	243					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.R243*(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCCTCAATTCGACAGGATCA	0.353																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											130.0	122.0	124.0					22																	32188763		1804	4082	5886	-	-	-	SO:0001587	stop_gained	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.727C>T	22.37:g.32188763C>T	ENSP00000371546:p.Arg243*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Nonsense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R243*	ENST00000382112.3	37	c.727	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	-	38	6.701398	0.97772	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.29	1.87	0.25490	.	0.117813	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	13.4713	0.61283	0.6194:0.3806:0.0:0.0	.	.	.	.	X	243;215;243;243;243;243;243;243;243;243;243	.	ENSP00000266091:R243X	R	+	1	2	DEPDC5	30518763	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	1.746000	0.38288	0.154000	0.19237	0.567000	0.79289	CGA	DEPDC5	-	pfam_DUF3608	ENSG00000100150		0.353	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	401	0.00	0	C	NM_014662		32188763	32188763	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	nonsense	307	12.25	43	SNP	1.000	T
DESI2	51029	genome.wustl.edu	37	1	244852550	244852550	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:244852550G>T	ENST00000302550.11	+	3	494		c.e3-1		DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	DESI2_HUMAN	desumoylating isopeptidase 2							cytoplasm (GO:0005737)	peptidase activity (GO:0008233)										TCTCTTTTCAGAATTTGCTTA	0.318																																						dbGAP											0													91.0	101.0	98.0					1																	244852550		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0			AK025651	CCDS1626.1, CCDS73055.1	1q44	2012-05-16	2012-05-16	2012-05-16	ENSG00000121644	ENSG00000121644			24264	protein-coding gene	gene with protein product		614638	"""chromosome 1 open reading frame 121"", ""family with sequence similarity 152, member A"", ""PPPDE peptidase domain containing 1"""	C1orf121, FAM152A, PPPDE1		10810093, 22370726	Standard	XM_005273154		Approved	CGI-146, FLJ21998	uc001iao.3	Q9BSY9	OTTHUMG00000040398	ENST00000302550.11:c.116-1G>T	1.37:g.244852550G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APK6|Q5VVC6|Q9NYS2|Q9Y3E4	Splice_Site	SNP	-	e3-1	ENST00000302550.11	37	c.116-1	CCDS1626.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563044	0.86335	.	.	ENSG00000121644	ENST00000302550;ENST00000418162	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9915	0.97366	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPPDE1	242919173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.947000	0.93000	2.723000	0.93209	0.655000	0.94253	.	DESI2	-	-	ENSG00000121644		0.318	DESI2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DESI2	HGNC	protein_coding	OTTHUMT00000097168.1	163	0.00	0	G	NM_016076	Intron	244852550	244852550	+1	no_errors	ENST00000302550	ensembl	human	known	69_37n	splice_site	173	12.63	25	SNP	1.000	T
DET1	55070	genome.wustl.edu	37	15	89060117	89060117	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:89060117C>A	ENST00000268148.8	-	4	1504	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	DET1_ENST00000564406.1_Missense_Mutation_p.Q464H|DET1_ENST00000444300.1_Missense_Mutation_p.Q464H	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	453						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CGCTGTAAGACTGAGCACTGA	0.498																																						dbGAP											0													48.0	52.0	51.0					15																	89060117		1972	4141	6113	-	-	-	SO:0001583	missense	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1359G>T	15.37:g.89060117C>A	ENSP00000268148:p.Gln453His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.Q464H	ENST00000268148.8	37	c.1392	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280423	0.80692	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.53	4.6	0.57074	.	0.116121	0.64402	D	0.000009	T	0.78310	0.4263	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.967	T	0.80372	-0.1410	9	0.87932	D	0	-28.7348	10.368	0.44035	0.0:0.8518:0.0:0.1482	.	453;464	Q7L5Y6;B3KNN6	DET1_HUMAN;.	H	464;453	.	ENSP00000268148:Q453H	Q	-	3	2	DET1	86861121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.807000	0.55591	2.879000	0.98667	0.650000	0.86243	CAG	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.498	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	318	0.00	0	C	NM_017996		89060117	89060117	-1	no_errors	ENST00000444300	ensembl	human	known	69_37n	missense	165	29.79	70	SNP	1.000	A
DGCR8	54487	genome.wustl.edu	37	22	20079483	20079483	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:20079483C>A	ENST00000351989.3	+	7	2025	c.1596C>A	c.(1594-1596)ttC>ttA	p.F532L	DGCR8_ENST00000383024.2_Missense_Mutation_p.F532L|DGCR8_ENST00000407755.1_Missense_Mutation_p.F532L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	532	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCTATAATTTCTTTGAATGTG	0.502																																						dbGAP											0													101.0	97.0	98.0					22																	20079483		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1596C>A	22.37:g.20079483C>A	ENSP00000263209:p.Phe532Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.F532L	ENST00000351989.3	37	c.1596	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635452	0.87760	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.76448	-1.02;0.2;0.2	5.7	4.69	0.59074	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	N	0.11131	0.1	0.80722	D	1	D;D	0.67145	0.996;0.981	D;P	0.73380	0.98;0.79	T	0.81351	-0.0972	10	0.62326	D	0.03	-13.7281	14.1246	0.65213	0.0:0.9272:0.0:0.0728	.	532;532	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	532	ENSP00000263209:F532L;ENSP00000372488:F532L;ENSP00000384726:F532L	ENSP00000263209:F532L	F	+	3	2	DGCR8	18459483	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.472000	0.45136	1.404000	0.46819	0.650000	0.86243	TTC	DGCR8	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000128191		0.502	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	360	0.00	0	C			20079483	20079483	+1	no_errors	ENST00000351989	ensembl	human	known	69_37n	missense	431	18.03	95	SNP	1.000	A
DGKA	1606	genome.wustl.edu	37	12	56335969	56335969	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:56335969T>C	ENST00000331886.5	+	17	1802	c.1348T>C	c.(1348-1350)Ttg>Ctg	p.L450L	DGKA_ENST00000394147.1_Silent_p.L450L|DGKA_ENST00000551156.1_Silent_p.L450L|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	450	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAAGCTAACTTGCCAGTTTT	0.522																																						dbGAP											0													206.0	166.0	180.0					12																	56335969		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1348T>C	12.37:g.56335969T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L450	ENST00000331886.5	37	c.1348	CCDS8896.1	12																																																																																			DGKA	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000065357		0.522	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	874	0.00	0	T			56335969	56335969	+1	no_errors	ENST00000331886	ensembl	human	known	69_37n	silent	653	26.98	242	SNP	1.000	C
DGKD	8527	genome.wustl.edu	37	2	234355419	234355419	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:234355419G>A	ENST00000264057.2	+	12	1408	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	DGKD_ENST00000409813.3_Missense_Mutation_p.E422K	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	466					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TACCGTCACCGAAGACTTCAG	0.592																																						dbGAP											0													105.0	88.0	94.0					2																	234355419		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1396G>A	2.37:g.234355419G>A	ENSP00000264057:p.Glu466Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E466K	ENST00000264057.2	37	c.1396	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.512881	0.96402	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80393	-1.21;-1.37	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	D	0.83055	0.5171	L	0.46157	1.445	0.54753	D	0.999989	P;D;B	0.76494	0.8;0.999;0.122	B;P;B	0.58928	0.288;0.848;0.047	T	0.76782	-0.2832	10	0.07990	T	0.79	.	18.9815	0.92757	0.0:0.0:1.0:0.0	.	350;422;466	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	K	466;422	ENSP00000264057:E466K;ENSP00000386455:E422K	ENSP00000264057:E466K	E	+	1	0	DGKD	234020158	1.000000	0.71417	0.913000	0.36048	0.982000	0.71751	9.307000	0.96226	2.806000	0.96561	0.655000	0.94253	GAA	DGKD	-	NULL	ENSG00000077044		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	103	0.00	0	G	NM_003648		234355419	234355419	+1	no_errors	ENST00000264057	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.999	A
DGKG	1608	genome.wustl.edu	37	3	185983050	185983050	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:185983050C>T	ENST00000265022.3	-	14	1794	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Missense_Mutation_p.E380K|DGKG_ENST00000344484.4_Missense_Mutation_p.E419K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	419					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATGACAAGTTCGCCCTTGGCG	0.502																																						dbGAP											0													84.0	67.0	73.0					3																	185983050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1255G>A	3.37:g.185983050C>T	ENSP00000265022:p.Glu419Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.E419K	ENST00000265022.3	37	c.1255	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	3.039	-0.197819	0.06219	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000538691	D;D;D	0.83250	-1.56;-1.54;-1.7	4.21	4.21	0.49690	.	0.786747	0.12470	N	0.466126	T	0.64724	0.2624	N	0.08118	0	0.80722	D	1	B;B;B	0.20052	0.041;0.005;0.003	B;B;B	0.19148	0.024;0.005;0.002	T	0.56733	-0.7930	10	0.06494	T	0.89	.	12.427	0.55553	0.0:1.0:0.0:0.0	.	419;380;419	P49619-2;P49619-3;P49619	.;.;DGKG_HUMAN	K	419;419;380;383	ENSP00000265022:E419K;ENSP00000339777:E419K;ENSP00000371599:E380K	ENSP00000265022:E419K	E	-	1	0	DGKG	187465744	0.935000	0.31712	0.929000	0.37066	0.349000	0.29174	3.018000	0.49625	2.659000	0.90383	0.650000	0.86243	GAA	DGKG	-	NULL	ENSG00000058866		0.502	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	82	0.00	0	C			185983050	185983050	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	missense	49	24.24	16	SNP	0.943	T
DGKG	1608	genome.wustl.edu	37	3	185993406	185993406	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:185993406C>A	ENST00000265022.3	-	10	1379	c.840G>T	c.(838-840)aaG>aaT	p.K280N	DGKG_ENST00000544847.1_Missense_Mutation_p.K280N|DGKG_ENST00000382164.4_Missense_Mutation_p.K280N|DGKG_ENST00000344484.4_Missense_Mutation_p.K280N	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	280					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	AGGTTGGTTTCTTGAAGTGCT	0.562																																						dbGAP											0													84.0	75.0	78.0					3																	185993406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.840G>T	3.37:g.185993406C>A	ENSP00000265022:p.Lys280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.K280N	ENST00000265022.3	37	c.840	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	5.706	0.314778	0.10789	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691;ENST00000437018	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.31	4.42	0.53409	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.115692	0.64402	D	0.000020	T	0.81880	0.4916	N	0.05534	-0.03	0.45005	D	0.998027	B;B;B;B	0.13594	0.001;0.001;0.003;0.008	B;B;B;B	0.18871	0.006;0.006;0.014;0.023	T	0.74861	-0.3520	10	0.06494	T	0.89	.	9.5275	0.39173	0.0:0.7721:0.1465:0.0814	.	280;280;280;280	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	N	280;280;280;280;283;31	ENSP00000265022:K280N;ENSP00000339777:K280N;ENSP00000371599:K280N;ENSP00000440507:K280N;ENSP00000395526:K31N	ENSP00000265022:K280N	K	-	3	2	DGKG	187476100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.646000	0.46630	2.646000	0.89796	0.655000	0.94253	AAG	DGKG	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000058866		0.562	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	112	0.00	0	C			185993406	185993406	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	1.000	A
DGKK	139189	genome.wustl.edu	37	X	50119146	50119146	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:50119146C>A	ENST00000376025.2	-	0	3349							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTGGTGGATCTTGCTCAGGT	0.478																																						dbGAP											0													67.0	64.0	65.0					X																	50119146		2017	4162	6179	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119146C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.478	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	226	0.00	0	C	NM_001013742		50119146	50119146	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	95	43.11	72	SNP	1.000	A
DGKK	139189	genome.wustl.edu	37	X	50136227	50136227	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:50136227G>A	ENST00000376025.2	-	0	1577							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.I302I(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGAGGAAGACGATCCCCTGAT	0.448																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											92.0	84.0	87.0					X																	50136227		2039	4179	6218	-	-	-			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50136227G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.448	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	183	0.00	0	G	NM_001013742		50136227	50136227	-1	no_errors	ENST00000376025	ensembl	human	known	69_37n	rna	154	14.44	26	SNP	0.666	A
DGUOK	1716	genome.wustl.edu	37	2	74185175	74185175	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74185175T>G	ENST00000264093.4	+	6	792				DGUOK-AS1_ENST00000453103.1_RNA|DGUOK-AS1_ENST00000413452.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK-AS1_ENST00000439192.1_RNA|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000356837.6_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	CATGTTGAATTTAGATCTGTT	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.708-98T>G	2.37:g.74185175T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	RNA	SNP	-	NULL	ENST00000264093.4	37	NULL	CCDS1931.1	2																																																																																			DGUOK-AS1	-	-	ENSG00000237883		0.358	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK-AS1	HGNC	protein_coding	OTTHUMT00000252050.1	186	0.00	0	T			74185175	74185175	-1	no_errors	ENST00000413452	ensembl	human	known	69_37n	rna	115	27.67	44	SNP	0.044	G
DGUOK	1716	genome.wustl.edu	37	2	74185256	74185256	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74185256G>A	ENST00000264093.4	+	6	792				DGUOK-AS1_ENST00000453103.1_RNA|DGUOK-AS1_ENST00000413452.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK-AS1_ENST00000439192.1_RNA|DGUOK_ENST00000348222.1_Intron|DGUOK_ENST00000356837.6_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase						deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	TCCCCCAAACGTTCACGCTTC	0.393																																						dbGAP											0													87.0	82.0	84.0					2																	74185256		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.708-17G>A	2.37:g.74185256G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	RNA	SNP	-	NULL	ENST00000264093.4	37	NULL	CCDS1931.1	2																																																																																			DGUOK-AS1	-	-	ENSG00000237883		0.393	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK-AS1	HGNC	protein_coding	OTTHUMT00000252050.1	561	0.00	0	G			74185256	74185256	-1	no_errors	ENST00000413452	ensembl	human	known	69_37n	rna	372	13.08	56	SNP	0.000	A
DHDDS	79947	genome.wustl.edu	37	1	26784301	26784301	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:26784301C>T	ENST00000236342.7	+	7	655	c.562C>T	c.(562-564)Ctt>Ttt	p.L188F	DHDDS_ENST00000360009.2_Missense_Mutation_p.L188F|DHDDS_ENST00000525682.2_Missense_Mutation_p.L154F|DHDDS_ENST00000526219.1_Missense_Mutation_p.L149F			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	188					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGAGTCTCTGCTTGATAAGTG	0.463																																						dbGAP											0													292.0	252.0	266.0					1																	26784301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.562C>T	1.37:g.26784301C>T	ENSP00000236342:p.Leu188Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	p.L188F	ENST00000236342.7	37	c.562	CCDS282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.98|17.98	3.519923|3.519923	0.64634|0.64634	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000416052|ENST00000374187;ENST00000374192;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000436153;ENST00000430232;ENST00000431933	.|T;T;T;T;T;T	.|0.78924	.|-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78065|0.78065	0.4225|0.4225	L|L	0.31120|0.31120	0.905|0.905	0.80722|0.80722	D|D	1|1	.|P;D;B;B	.|0.59357	.|0.808;0.985;0.059;0.225	.|P;P;B;B	.|0.62014	.|0.566;0.897;0.344;0.233	T|T	0.72743|0.72743	-0.4201|-0.4201	5|10	.|0.22109	.|T	.|0.4	-15.3602|-15.3602	12.253|12.253	0.54610|0.54610	0.0:0.9218:0.0:0.0782|0.0:0.9218:0.0:0.0782	.|.	.|154;149;188;188	.|B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2	.|.;.;DHDDS_HUMAN;.	V|F	64|61;84;154;188;149;188;191;149;59	.|ENSP00000434984:L154F;ENSP00000236342:L188F;ENSP00000434219:L149F;ENSP00000353104:L188F;ENSP00000397584:L149F;ENSP00000399781:L59F	.|ENSP00000236342:L188F	A|L	+|+	2|1	0|0	DHDDS|DHDDS	26656888|26656888	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	2.345000|2.345000	0.44018|0.44018	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCT|CTT	DHDDS	-	pfam_UPP_synth-like,superfamily_UPP_synth-like,tigrfam_UPP_synth-like	ENSG00000117682		0.463	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	DHDDS	HGNC	protein_coding	OTTHUMT00000392504.1	395	0.00	0	C	NM_024887		26784301	26784301	+1	no_errors	ENST00000360009	ensembl	human	known	69_37n	missense	315	14.63	54	SNP	1.000	T
DHFRL1	200895	genome.wustl.edu	37	3	93780121	93780121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:93780121C>A	ENST00000394221.2	-	2	684	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	DHFRL1_ENST00000481631.1_Intron|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_Nonsense_Mutation_p.E79*	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	79	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TCCTTGAGTTCTCTGCTGAGA	0.398																																						dbGAP											0													115.0	117.0	117.0					3																	93780121		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.235G>T	3.37:g.93780121C>A	ENSP00000377768:p.Glu79*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN30|Q6P4I9	Nonsense_Mutation	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.E79*	ENST00000394221.2	37	c.235	CCDS2926.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962523	0.74016	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	.	.	.	0.882	0.882	0.19172	.	0.339762	0.29119	U	0.013088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-2.3361	7.6396	0.28286	0.0:1.0:0.0:0.0	.	.	.	.	X	79	.	ENSP00000319170:E79X	E	-	1	0	DHFRL1	95262811	0.997000	0.39634	0.995000	0.50966	0.804000	0.45430	0.607000	0.24209	0.769000	0.33313	0.449000	0.29647	GAA	DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom	ENSG00000178700		0.398	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	210	0.47	1	C	NM_176815		93780121	93780121	-1	no_errors	ENST00000314636	ensembl	human	known	69_37n	nonsense	201	12.23	28	SNP	1.000	A
DHRS3	9249	genome.wustl.edu	37	1	12640688	12640688	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:12640688G>T	ENST00000376223.2	-	2	585	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	68					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CGGCCCCAGAGAACAATCTGG	0.473																																						dbGAP											0													54.0	55.0	55.0					1																	12640688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.202C>A	1.37:g.12640688G>T	ENSP00000365397:p.Leu68Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L68I	ENST00000376223.2	37	c.202	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480088	0.84747	.	.	ENSG00000162496	ENST00000376223	D	0.91792	-2.91	5.61	4.69	0.59074	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	N	0.05592	-0.015	0.53688	D	0.99997	D;P;D	0.89917	1.0;0.542;1.0	D;P;D	0.87578	0.998;0.55;0.998	D	0.88851	0.3319	10	0.27785	T	0.31	.	13.9296	0.63986	0.0725:0.0:0.9275:0.0	.	68;68;68	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	I	68	ENSP00000365397:L68I	ENSP00000365397:L68I	L	-	1	0	DHRS3	12563275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.149000	0.50655	2.629000	0.89072	0.655000	0.94253	CTC	DHRS3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR	ENSG00000162496		0.473	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	67	0.00	0	G	NM_004753		12640688	12640688	-1	no_errors	ENST00000376223	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	T
DHX15	1665	genome.wustl.edu	37	4	24538722	24538722	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:24538722C>T	ENST00000336812.4	-	11	2017	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	621					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGATCTCCATCTATGTGGGCA	0.458																																						dbGAP											0													184.0	147.0	160.0					4																	24538722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1861G>A	4.37:g.24538722C>T	ENSP00000336741:p.Asp621Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D621N	ENST00000336812.4	37	c.1861	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	C	25.7	4.670053	0.88348	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.02656	4.21	6.08	6.08	0.98989	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.76433	2.335	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.988	T	0.00003	-1.2581	10	0.59425	D	0.04	-19.0603	20.6721	0.99693	0.0:1.0:0.0:0.0	.	621;610	O43143;B4E0S6	DHX15_HUMAN;.	N	621;610	ENSP00000336741:D621N	ENSP00000336741:D621N	D	-	1	0	DHX15	24147820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GAT	DHX15	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000109606		0.458	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	325	0.00	0	C	NM_001358		24538722	24538722	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	missense	241	11.72	32	SNP	1.000	T
DHX15	1665	genome.wustl.edu	37	4	24541803	24541803	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:24541803C>T	ENST00000336812.4	-	10	1870	c.1714G>A	c.(1714-1716)Gca>Aca	p.A572T	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	572					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACCATTTTTGCGAGCTGTGGA	0.403																																						dbGAP											0													121.0	119.0	120.0					4																	24541803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1714G>A	4.37:g.24541803C>T	ENSP00000336741:p.Ala572Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A572T	ENST00000336812.4	37	c.1714	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.267668	0.95399	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.47869	0.83	6.16	5.32	0.75619	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.91459	3.21	0.80722	D	1	D	0.65815	0.995	P	0.61201	0.885	T	0.78656	-0.2119	10	0.87932	D	0	-18.5289	15.9802	0.80102	0.0:0.9349:0.0:0.0651	.	572	O43143	DHX15_HUMAN	T	572;561	ENSP00000336741:A572T	ENSP00000336741:A572T	A	-	1	0	DHX15	24150901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GCA	DHX15	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000109606		0.403	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	195	0.00	0	C	NM_001358		24541803	24541803	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	missense	130	17.20	27	SNP	1.000	T
DHX15	1665	genome.wustl.edu	37	4	24550643	24550643	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:24550643T>G	ENST00000336812.4	-	6	1239	c.1083A>C	c.(1081-1083)gaA>gaC	p.E361D		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	361	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTTCATCAATTTCCTACAAAA	0.328																																						dbGAP											0													63.0	59.0	60.0					4																	24550643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1083A>C	4.37:g.24550643T>G	ENSP00000336741:p.Glu361Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E361D	ENST00000336812.4	37	c.1083	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573595	0.86542	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.03272	3.99	5.93	5.93	0.95920	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.66560	2.04	0.80722	D	1	D	0.58970	0.984	P	0.61722	0.893	T	0.00139	-1.2001	10	0.66056	D	0.02	-7.1164	10.9682	0.47424	0.0:0.0778:0.0:0.9222	.	361	O43143	DHX15_HUMAN	D	361;350	ENSP00000336741:E361D	ENSP00000336741:E361D	E	-	3	2	DHX15	24159741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.645000	0.67909	2.273000	0.75805	0.482000	0.46254	GAA	DHX15	-	pfscan_Helicase_C	ENSG00000109606		0.328	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	161	0.00	0	T	NM_001358		24550643	24550643	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	missense	99	25.00	33	SNP	1.000	G
DHX30	22907	genome.wustl.edu	37	3	47888784	47888784	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:47888784G>A	ENST00000445061.1	+	12	2358	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	DHX30_ENST00000457607.1_Missense_Mutation_p.D679N|DHX30_ENST00000348968.4_Missense_Mutation_p.D623N|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000446256.2_Missense_Mutation_p.D612N	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	651						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATGCGCACTCGATTTGGACCT	0.607																																						dbGAP											0													184.0	147.0	160.0					3																	47888784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1951G>A	3.37:g.47888784G>A	ENSP00000405620:p.Asp651Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D651N	ENST00000445061.1	37	c.1951	CCDS2759.1	3	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744508	0.49151	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02552	4.25;4.25;4.25;4.25	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.04452	0.0122	L	0.35644	1.08	0.53688	D	0.999974	P;P	0.44429	0.835;0.758	B;B	0.43701	0.137;0.428	T	0.58645	-0.7600	10	0.30854	T	0.27	.	16.7515	0.85488	0.0:0.0:1.0:0.0	.	651;612	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	N	612;651;623;679	ENSP00000392601:D612N;ENSP00000405620:D651N;ENSP00000343442:D623N;ENSP00000394682:D679N	ENSP00000343442:D623N	D	+	1	0	DHX30	47863788	1.000000	0.71417	0.837000	0.33122	0.862000	0.49288	6.974000	0.76122	2.157000	0.67596	0.462000	0.41574	GAT	DHX30	-	NULL	ENSG00000132153		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	111	0.00	0	G	NM_138615		47888784	47888784	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	missense	69	12.66	10	SNP	0.989	A
DHX57	90957	genome.wustl.edu	37	2	39033743	39033743	+	Silent	SNP	G	G	A	rs535060789	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:39033743G>A	ENST00000295373.6	-	22	3900	c.3774C>T	c.(3772-3774)aaC>aaT	p.N1258N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1258							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N1258N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CATATCCATCGTTCTTGGTGA	0.418																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											217.0	186.0	196.0					2																	39033743		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3774C>T	2.37:g.39033743G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1258	ENST00000295373.6	37	c.3774	CCDS1800.1	2																																																																																			DHX57	-	pfam_DUF1605	ENSG00000163214		0.418	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	497	0.00	0	G	NM_145646		39033743	39033743	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	silent	441	11.24	56	SNP	0.021	A
DHX57	90957	genome.wustl.edu	37	2	39095540	39095540	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:39095540G>T	ENST00000295373.6	-	2	134	c.8C>A	c.(7-9)tCt>tAt	p.S3Y	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	3							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCTTACTGAAGAACTCATTTT	0.408																																					Melanoma(191;1090 2095 4375 23729 47341)	dbGAP											0													104.0	106.0	105.0					2																	39095540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.8C>A	2.37:g.39095540G>T	ENSP00000295373:p.Ser3Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S3Y	ENST00000295373.6	37	c.8	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217778	0.39201	.	.	ENSG00000163214	ENST00000295373	T	0.03272	3.99	3.97	3.97	0.46021	.	0.000000	0.39615	N	0.001319	T	0.02929	0.0087	N	0.14661	0.345	0.34418	D	0.697137	P;P	0.50066	0.931;0.51	B;B	0.44278	0.445;0.133	T	0.43393	-0.9394	10	0.87932	D	0	.	6.874	0.24137	0.0971:0.1795:0.7234:0.0	.	3;3	Q6P158-2;Q6P158	.;DHX57_HUMAN	Y	3	ENSP00000295373:S3Y	ENSP00000295373:S3Y	S	-	2	0	DHX57	38949044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.463000	0.53050	2.076000	0.62316	0.549000	0.68633	TCT	DHX57	-	NULL	ENSG00000163214		0.408	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	136	0.00	0	G	NM_145646		39095540	39095540	-1	no_errors	ENST00000295373	ensembl	human	known	69_37n	missense	133	13.64	21	SNP	0.999	T
DHX9	1660	genome.wustl.edu	37	1	182846145	182846145	+	Intron	SNP	A	A	G	rs377012383		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:182846145A>G	ENST00000367549.3	+	19	2308					NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGTGTTCTTAAATCTCCAAAA	0.313																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2198+107A>G	1.37:g.182846145A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	RNA	SNP	-	NULL	ENST00000367549.3	37	NULL	CCDS41444.1	1																																																																																			DHX9	-	-	ENSG00000135829		0.313	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	43	0.00	0	A	NM_030588		182846145	182846145	+1	no_errors	ENST00000474446	ensembl	human	known	69_37n	rna	24	41.46	17	SNP	0.000	G
DHX9	1660	genome.wustl.edu	37	1	182850488	182850488	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:182850488G>A	ENST00000367549.3	+	23	2824	c.2714G>A	c.(2713-2715)cGa>cAa	p.R905Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	905					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATATCCATCGAAATTTTGCT	0.453																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0													134.0	128.0	130.0					1																	182850488		1874	4106	5980	-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2714G>A	1.37:g.182850488G>A	ENSP00000356520:p.Arg905Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.R905Q	ENST00000367549.3	37	c.2714	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.622439	0.96660	.	.	ENSG00000135829	ENST00000367549	T	0.34072	1.38	5.76	5.76	0.90799	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.70903	2.155	0.58432	D	0.999999	D;D	0.89917	0.989;1.0	P;D	0.74674	0.782;0.984	T	0.60566	-0.7238	10	0.52906	T	0.07	.	19.5961	0.95538	0.0:0.0:1.0:0.0	.	184;905	B3KU66;Q08211	.;DHX9_HUMAN	Q	905	ENSP00000356520:R905Q	ENSP00000356520:R905Q	R	+	2	0	DHX9	181117111	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.087000	0.94110	2.706000	0.92434	0.655000	0.94253	CGA	DHX9	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom	ENSG00000135829		0.453	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	176	0.00	0	G	NM_030588		182850488	182850488	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	141	12.42	20	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	95990781	95990781	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:95990781G>T	ENST00000324765.8	+	2	504	c.157G>T	c.(157-159)Gat>Tat	p.D53Y	DIAPH2_ENST00000355827.4_Missense_Mutation_p.D53Y|DIAPH2_ENST00000373049.4_Missense_Mutation_p.D53Y|DIAPH2_ENST00000373061.3_Missense_Mutation_p.D53Y|DIAPH2_ENST00000373054.4_Intron			O60879	DIAP2_HUMAN	diaphanous-related formin 2	53					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AACTTTGGCAGATGATGTGGT	0.279																																						dbGAP											0													210.0	191.0	197.0					X																	95990781		2202	4297	6499	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.157G>T	X.37:g.95990781G>T	ENSP00000321348:p.Asp53Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.D53Y	ENST00000324765.8	37	c.157	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221685	0.79464	.	.	ENSG00000147202	ENST00000373061;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D	0.82711	-1.64;-1.58;-1.58;-1.64	5.78	5.78	0.91487	.	0.202485	0.35320	N	0.003284	D	0.87601	0.6218	L	0.34521	1.04	0.49051	D	0.999749	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.995	D	0.88762	0.3258	10	0.72032	D	0.01	.	18.5822	0.91176	0.0:0.0:1.0:0.0	.	53;53;53	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Y	53	ENSP00000362152:D53Y;ENSP00000348082:D53Y;ENSP00000362140:D53Y;ENSP00000321348:D53Y	ENSP00000321348:D53Y	D	+	1	0	DIAPH2	95877437	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.408000	0.90221	2.431000	0.82371	0.594000	0.82650	GAT	DIAPH2	-	NULL	ENSG00000147202		0.279	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	1299	0.00	0	G	NM_006729, NM_007309		95990781	95990781	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	739	13.06	111	SNP	1.000	T
DIAPH3	81624	genome.wustl.edu	37	13	60453488	60453488	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:60453488C>T	ENST00000400324.4	-	21	2702	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	DIAPH3_ENST00000400319.1_Missense_Mutation_p.E758K|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E828K|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E817K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E828K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E782K|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	828	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTATCTCTTCGCAGGCAGTA	0.463																																						dbGAP											0													108.0	102.0	104.0					13																	60453488		1897	4121	6018	-	-	-	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2482G>A	13.37:g.60453488C>T	ENSP00000383178:p.Glu828Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E828K	ENST00000400324.4	37	c.2482	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804295	0.90623	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.97	5.97	0.96955	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.096271	0.64402	D	0.000001	T	0.34366	0.0895	L	0.52126	1.63	0.80722	D	1	P;D;D	0.69078	0.946;0.977;0.997	B;P;P	0.56823	0.266;0.661;0.807	T	0.00480	-1.1714	10	0.56958	D	0.05	.	20.4324	0.99085	0.0:1.0:0.0:0.0	.	565;565;828	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	K	828;828;817;782;758;817;758;782;828;565;828	ENSP00000383178:E828K;ENSP00000383184:E828K;ENSP00000367141:E817K;ENSP00000383173:E758K;ENSP00000383174:E782K;ENSP00000267215:E828K	ENSP00000267214:E565K	E	-	1	0	DIAPH3	59351489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.833000	0.97629	0.585000	0.79938	GAA	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000139734		0.463	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	165	0.00	0	C	NM_001042517		60453488	60453488	-1	no_errors	ENST00000400324	ensembl	human	known	69_37n	missense	89	15.24	16	SNP	1.000	T
DICER1	23405	genome.wustl.edu	37	14	95583978	95583978	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:95583978T>G	ENST00000526495.1	-	11	1781	c.1490A>C	c.(1489-1491)gAa>gCa	p.E497A	DICER1_ENST00000527414.1_Missense_Mutation_p.E497A|DICER1_ENST00000541352.1_Missense_Mutation_p.E497A|DICER1_ENST00000393063.1_Missense_Mutation_p.E497A|DICER1_ENST00000343455.3_Missense_Mutation_p.E497A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	497	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTTTCTGAATTCTGCTTCCAT	0.408			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													179.0	158.0	165.0					14																	95583978		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1490A>C	14.37:g.95583978T>G	ENSP00000437256:p.Glu497Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.E497A	ENST00000526495.1	37	c.1490	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097791	0.76870	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.76413	-0.2968	10	0.25106	T	0.35	-27.2896	15.3439	0.74320	0.0:0.0:0.0:1.0	.	497	Q9UPY3	DICER_HUMAN	A	497	ENSP00000343745:E497A;ENSP00000437256:E497A;ENSP00000376783:E497A;ENSP00000435681:E497A;ENSP00000444719:E497A	ENSP00000343745:E497A	E	-	2	0	DICER1	94653731	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.965000	0.87945	2.078000	0.62432	0.528000	0.53228	GAA	DICER1	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000100697		0.408	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	322	0.00	0	T			95583978	95583978	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	missense	251	14.63	43	SNP	1.000	G
DIDO1	11083	genome.wustl.edu	37	20	61537438	61537438	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:61537438G>T	ENST00000266070.4	-	6	1714	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	DIDO1_ENST00000266071.5_Silent_p.I463I|DIDO1_ENST00000370368.1_Silent_p.I463I|DIDO1_ENST00000395335.2_Silent_p.I463I|DIDO1_ENST00000395343.1_Silent_p.I463I|DIDO1_ENST00000370371.4_Silent_p.I463I|DIDO1_ENST00000370366.1_Silent_p.I463I|DIDO1_ENST00000354665.4_Silent_p.I463I|DIDO1_ENST00000395340.1_Silent_p.I463I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	463					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCACAGAAGAGATTTTAATAC	0.463																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	dbGAP											0													74.0	83.0	80.0					20																	61537438		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1389C>A	20.37:g.61537438G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.I463	ENST00000266070.4	37	c.1389	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.463	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	133	0.00	0	G	NM_080796		61537438	61537438	-1	no_errors	ENST00000266070	ensembl	human	known	69_37n	silent	68	26.09	24	SNP	0.993	T
DIP2C	22982	genome.wustl.edu	37	10	394617	394617	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:394617G>A	ENST00000280886.6	-	26	3282	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1065						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACGTCGTCGCGATGTTCTGTG	0.567																																						dbGAP											0													228.0	197.0	208.0					10																	394617		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3195C>T	10.37:g.394617G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.I1065	ENST00000280886.6	37	c.3195	CCDS7054.1	10																																																																																			DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.567	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	50	0.00	0	G	NM_014974		394617	394617	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	0.144	A
DIRAS3	9077	genome.wustl.edu	37	1	68512321	68512321	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:68512321C>A	ENST00000370981.1	-	4	1296	c.660G>T	c.(658-660)gaG>gaT	p.E220D	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.E220D			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	220					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E220E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAGCAGCTTCTCAGTGGTGT	0.507																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											120.0	118.0	119.0					1																	68512321		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.660G>T	1.37:g.68512321C>A	ENSP00000360020:p.Glu220Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E220D	ENST00000370981.1	37	c.660	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664020	0.29604	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.73152	-0.72;-0.72	4.66	0.301	0.15781	.	.	.	.	.	T	0.22781	0.0550	N	0.11427	0.14	0.25529	N	0.987295	B	0.20887	0.049	B	0.22880	0.042	T	0.16571	-1.0398	9	0.23302	T	0.38	.	3.3812	0.07255	0.5036:0.2885:0.1175:0.0904	.	220	O95661	DIRA3_HUMAN	D	220	ENSP00000360020:E220D;ENSP00000378627:E220D	ENSP00000360020:E220D	E	-	3	2	DIRAS3	68284909	0.998000	0.40836	0.915000	0.36163	0.014000	0.08584	0.476000	0.22180	0.499000	0.27970	-0.188000	0.12872	GAG	DIRAS3	-	NULL	ENSG00000162595		0.507	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	206	0.00	0	C	NM_004675		68512321	68512321	-1	no_errors	ENST00000370981	ensembl	human	known	69_37n	missense	104	14.05	17	SNP	1.000	A
DIS3	22894	genome.wustl.edu	37	13	73337650	73337650	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:73337650C>T	ENST00000377767.4	-	16	2166	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q	DIS3_ENST00000545453.1_Missense_Mutation_p.R527Q|DIS3_ENST00000377780.4_Missense_Mutation_p.R659Q	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	689					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AGGATGTTTTCGAAGCAGAGC	0.368										Multiple Myeloma(4;0.011)																												dbGAP											0													90.0	90.0	90.0					13																	73337650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2066G>A	13.37:g.73337650C>T	ENSP00000366997:p.Arg689Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	pfam_RNase_II/R,smart_PINc_nuc-bd,smart_RNase_II/R	p.R689Q	ENST00000377767.4	37	c.2066	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.749963	0.96890	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.59502	0.26;0.26;0.26	5.74	5.74	0.90152	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.72075	0.9;0.976	D	0.93488	0.6833	10	0.87932	D	0	.	19.9357	0.97140	0.0:1.0:0.0:0.0	.	659;689	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	Q	689;659;527	ENSP00000366997:R689Q;ENSP00000367011:R659Q;ENSP00000440058:R527Q	ENSP00000366997:R689Q	R	-	2	0	DIS3	72235651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.794000	0.85869	2.715000	0.92844	0.655000	0.94253	CGA	DIS3	-	pfam_RNase_II/R,smart_RNase_II/R	ENSG00000083520		0.368	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	176	0.00	0	C	NM_014953		73337650	73337650	-1	no_errors	ENST00000377767	ensembl	human	known	69_37n	missense	56	13.64	9	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223177301	223177301	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:223177301G>A	ENST00000284476.6	+	8	2726	c.2562G>A	c.(2560-2562)gaG>gaA	p.E854E		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	854					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTTCATTGAGACATTCAAAC	0.473																																						dbGAP											0													64.0	68.0	67.0					1																	223177301		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2562G>A	1.37:g.223177301G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.E854	ENST00000284476.6	37	c.2562	CCDS1536.1	1																																																																																			DISP1	-	NULL	ENSG00000154309		0.473	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	73	0.00	0	G	NM_032890		223177301	223177301	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	silent	61	17.57	13	SNP	1.000	A
DISP1	84976	genome.wustl.edu	37	1	223177730	223177730	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:223177730C>T	ENST00000284476.6	+	8	3155	c.2991C>T	c.(2989-2991)agC>agT	p.S997S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	997					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCATTTAGCGTGATGCTGC	0.473																																						dbGAP											0													132.0	111.0	118.0					1																	223177730		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2991C>T	1.37:g.223177730C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.S997	ENST00000284476.6	37	c.2991	CCDS1536.1	1																																																																																			DISP1	-	pfam_Patched,pfam_MMPL-typ	ENSG00000154309		0.473	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	63	0.00	0	C	NM_032890		223177730	223177730	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	silent	59	13.04	9	SNP	0.042	T
DISP1	84976	genome.wustl.edu	37	1	223177877	223177877	+	Silent	SNP	C	C	T	rs561579509		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:223177877C>T	ENST00000284476.6	+	8	3302	c.3138C>T	c.(3136-3138)gtC>gtT	p.V1046V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1046					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.V1046V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGGTTGCCGTCGGCTTGTCTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		23430	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	central_nervous_system(1)											179.0	167.0	171.0					1																	223177877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3138C>T	1.37:g.223177877C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.V1046	ENST00000284476.6	37	c.3138	CCDS1536.1	1																																																																																			DISP1	-	pfam_Patched,pfam_MMPL-typ	ENSG00000154309		0.517	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	106	0.00	0	C	NM_032890		223177877	223177877	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	silent	75	12.79	11	SNP	0.000	T
DISP2	85455	genome.wustl.edu	37	15	40657453	40657453	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40657453G>T	ENST00000267889.3	+	6	912	c.825G>T	c.(823-825)gaG>gaT	p.E275D		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	275					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GAAGGCAAGAGAACTTCTTCT	0.612																																						dbGAP											0													34.0	39.0	37.0					15																	40657453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.825G>T	15.37:g.40657453G>T	ENSP00000267889:p.Glu275Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.E275D	ENST00000267889.3	37	c.825	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	G	2.465	-0.323216	0.05350	.	.	ENSG00000140323	ENST00000267889	T	0.10382	2.88	4.33	-5.65	0.02459	.	0.349867	0.32093	N	0.006592	T	0.02230	0.0069	N	0.02296	-0.605	0.28180	N	0.928211	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	10	0.02654	T	1	-6.1399	6.5827	0.22605	0.0858:0.5586:0.1832:0.1723	.	275	A7MBM2	DISP2_HUMAN	D	275	ENSP00000267889:E275D	ENSP00000267889:E275D	E	+	3	2	DISP2	38444745	0.039000	0.19947	0.059000	0.19551	0.894000	0.52154	-0.728000	0.04925	-0.769000	0.04620	0.563000	0.77884	GAG	DISP2	-	NULL	ENSG00000140323		0.612	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	25	0.00	0	G	NM_033510		40657453	40657453	+1	no_errors	ENST00000267889	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.203	T
DIXDC1	85458	genome.wustl.edu	37	11	111864311	111864311	+	Splice_Site	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:111864311A>C	ENST00000440460.2	+	14	1658	c.1361A>C	c.(1360-1362)cAg>cCg	p.Q454P	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Splice_Site_p.Q243P	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	455					camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGTTACCACCAGGTCAGAACA	0.478																																						dbGAP											0													85.0	87.0	86.0					11																	111864311		1962	4142	6104	-	-	-	SO:0001630	splice_region_variant	0			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.1362+1A>C	11.37:g.111864311A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX	p.Q454P	ENST00000440460.2	37	c.1361		11	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062608	0.76187	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.23950	1.88;1.88	5.65	4.53	0.55603	.	0.113683	0.64402	D	0.000009	T	0.39989	0.1099	.	.	.	0.58432	D	0.999999	P;P;D	0.57571	0.944;0.856;0.98	P;B;P	0.54815	0.563;0.424;0.761	T	0.24261	-1.0165	9	0.62326	D	0.03	-30.2594	10.8505	0.46767	0.9263:0.0:0.0737:0.0	.	120;243;455	B4DH68;E7EQ17;Q155Q3	.;.;DIXC1_HUMAN	P	454;243	ENSP00000394352:Q454P;ENSP00000314068:Q243P	ENSP00000314068:Q243P	Q	+	2	0	DIXDC1	111369521	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.471000	0.53107	0.973000	0.38340	0.528000	0.53228	CAG	DIXDC1	-	NULL	ENSG00000150764		0.478	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	DIXDC1	HGNC	protein_coding		107	0.00	0	A	NM_001037954	Missense_Mutation	111864311	111864311	+1	no_errors	ENST00000440460	ensembl	human	known	69_37n	missense	87	13.00	13	SNP	1.000	C
DKC1	1736	genome.wustl.edu	37	X	153995618	153995618	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:153995618G>A	ENST00000369550.5	+	7	811	c.601G>A	c.(601-603)Gag>Aag	p.E201K	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	201					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCATCTACGAGAGCAAAAT	0.448									Congenital Dyskeratosis																													dbGAP											0													170.0	155.0	160.0					X																	153995618		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.601G>A	X.37:g.153995618G>A	ENSP00000358563:p.Glu201Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451	p.E201K	ENST00000369550.5	37	c.601	CCDS14761.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.752538|5.752538	0.96890|0.96890	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000369550;ENST00000413910|ENST00000437719	D;D|.	0.88431|.	-2.38;-2.38|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Pseudouridine synthase, catalytic domain (1);|.	0.052973|.	0.85682|.	D|.	0.000000|.	T|T	0.69566|0.69566	0.3125|0.3125	L|L	0.49571|0.49571	1.57|1.57	0.80722|0.80722	D|D	1|1	P;P|.	0.34546|.	0.456;0.456|.	B;B|.	0.30646|.	0.05;0.118|.	T|T	0.66069|0.66069	-0.6015|-0.6015	10|5	0.59425|.	D|.	0.04|.	-33.6365|-33.6365	17.5785|17.5785	0.87958|0.87958	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201;201|.	A8MUT5;O60832|.	.;DKC1_HUMAN|.	K|Q	201|186	ENSP00000358563:E201K;ENSP00000400542:E201K|.	ENSP00000358563:E201K|.	E|R	+|+	1|2	0|0	DKC1|DKC1	153648812|153648812	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.985000|0.985000	0.73830|0.73830	9.428000|9.428000	0.97476|0.97476	2.472000|2.472000	0.83506|0.83506	0.513000|0.513000	0.50165|0.50165	GAG|CGA	DKC1	-	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_Pseudouridine_synthase-related	ENSG00000130826		0.448	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	108	0.92	1	G	NM_001363		153995618	153995618	+1	no_errors	ENST00000369550	ensembl	human	known	69_37n	missense	85	11.46	11	SNP	1.000	A
DKK1	22943	genome.wustl.edu	37	10	54074676	54074676	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:54074676C>T	ENST00000373970.3	+	2	382				PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1						cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CCGAACCCTTCCCACAGCCGT	0.642											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													23.0	20.0	21.0					10																	54074676		2200	4297	6497	-	-	-	SO:0001627	intron_variant	0				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.244-7C>T	10.37:g.54074676C>T		Somatic	997	WXS	Illumina GAIIx	Phase_IV	B2RC19	RNA	SNP	-	NULL	ENST00000373970.3	37	NULL	CCDS7246.1	10																																																																																			DKK1	-	-	ENSG00000107984		0.642	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	HGNC	protein_coding	OTTHUMT00000048100.1	37	0.00	0	C			54074676	54074676	+1	no_errors	ENST00000467359	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	0.297	T
DLC1	10395	genome.wustl.edu	37	8	12947777	12947777	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:12947777T>C	ENST00000276297.4	-	15	4467	c.4058A>G	c.(4057-4059)gAg>gGg	p.E1353G	DLC1_ENST00000520226.1_Missense_Mutation_p.E842G|DLC1_ENST00000358919.2_Missense_Mutation_p.E916G|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.E950G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1353	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATAGGACAGCTCAGCCTGCTC	0.493																																						dbGAP											0													67.0	69.0	68.0					8																	12947777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4058A>G	8.37:g.12947777T>C	ENSP00000276297:p.Glu1353Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.E1353G	ENST00000276297.4	37	c.4058	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745286	0.69418	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.06	5.06	0.68205	Lipid-binding START (3);START-like domain (1);	0.102324	0.64402	D	0.000003	D	0.87180	0.6113	M	0.76727	2.345	0.80722	D	1	P;P;B	0.46912	0.51;0.886;0.286	B;P;B	0.55965	0.41;0.788;0.169	D	0.88894	0.3348	10	0.87932	D	0	.	15.2867	0.73833	0.0:0.0:0.0:1.0	.	1353;950;916	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	G	1353;916;292;950;842	ENSP00000276297:E1353G;ENSP00000351797:E916G;ENSP00000422595:E950G;ENSP00000428028:E842G	ENSP00000276297:E1353G	E	-	2	0	DLC1	12992148	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.868000	0.87116	2.266000	0.75297	0.454000	0.30748	GAG	DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000164741		0.493	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	89	0.00	0	T	NM_182643, NM_006094		12947777	12947777	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	54	14.06	9	SNP	1.000	C
DKK4	27121	genome.wustl.edu	37	8	42233288	42233288	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:42233288C>T	ENST00000220812.2	-	2	358	c.172G>A	c.(172-174)Gat>Aat	p.D58N		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	58	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	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;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGCTTCTCATCGCGGGGCTGG	0.582																																						dbGAP											0													101.0	82.0	88.0					8																	42233288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.172G>A	8.37:g.42233288C>T	ENSP00000220812:p.Asp58Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	pfam_Dickkopf_N,pfam_Prokineticin_domain	p.D58N	ENST00000220812.2	37	c.172	CCDS6130.1	8	.	.	.	.	.	.	.	.	.	.	C	7.420	0.636604	0.14386	.	.	ENSG00000104371	ENST00000543914;ENST00000220812	T	0.30182	1.54	5.2	0.276	0.15663	Dickkopf, N-terminal cysteine-rich (1);	0.307754	0.27768	N	0.017935	T	0.21103	0.0508	L	0.53249	1.67	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.29579	-1.0007	10	0.13108	T	0.6	.	5.3737	0.16154	0.0:0.4821:0.1335:0.3844	.	58	Q9UBT3	DKK4_HUMAN	N	58	ENSP00000220812:D58N	ENSP00000220812:D58N	D	-	1	0	DKK4	42352445	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.118000	0.15605	-0.165000	0.10908	-1.353000	0.01230	GAT	DKK4	-	pfam_Dickkopf_N	ENSG00000104371		0.582	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK4	HGNC	protein_coding	OTTHUMT00000377563.1	191	0.00	0	C			42233288	42233288	-1	no_errors	ENST00000220812	ensembl	human	known	69_37n	missense	118	20.13	30	SNP	0.021	T
DLEC1	9940	genome.wustl.edu	37	3	38104228	38104228	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:38104228C>A	ENST00000308059.6	+	5	1051	c.1030C>A	c.(1030-1032)Ctt>Att	p.L344I	DLEC1_ENST00000452631.2_Missense_Mutation_p.L344I|DLEC1_ENST00000346219.3_Missense_Mutation_p.L344I					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGGCAAGTCTCTTGTTTTTCC	0.458																																						dbGAP											0													88.0	85.0	86.0					3																	38104228		1848	4098	5946	-	-	-	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1030C>A	3.37:g.38104228C>A	ENSP00000308597:p.Leu344Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_PapD-like	p.L344I	ENST00000308059.6	37	c.1030	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759511	0.69763	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.07567	3.19;3.18;3.41	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.79926	2.475	0.46521	D	0.999085	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;1.0	T	0.01252	-1.1405	10	0.56958	D	0.05	-25.1342	13.25	0.60045	0.0:1.0:0.0:0.0	.	344;344;344;344	A1L305;F8W6T4;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	I	344	ENSP00000308597:L344I;ENSP00000315914:L344I;ENSP00000410427:L344I	ENSP00000308597:L344I	L	+	1	0	DLEC1	38079232	1.000000	0.71417	0.984000	0.44739	0.706000	0.40770	4.207000	0.58480	2.581000	0.87130	0.655000	0.94253	CTT	DLEC1	-	NULL	ENSG00000008226		0.458	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	281	0.00	0	C	NM_007337		38104228	38104228	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	missense	239	14.95	42	SNP	0.997	A
DLEC1	9940	genome.wustl.edu	37	3	38138087	38138087	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:38138087C>T	ENST00000308059.6	+	15	2220	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	DLEC1_ENST00000452631.2_Silent_p.S733S|DLEC1_ENST00000346219.3_Silent_p.S733S					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGGGGCACTCCTCCTACTCTG	0.532																																						dbGAP											0													116.0	114.0	115.0					3																	38138087		1950	4151	6101	-	-	-	SO:0001819	synonymous_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2199C>T	3.37:g.38138087C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_PapD-like	p.S733	ENST00000308059.6	37	c.2199	CCDS2672.2	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	171	0.00	0	C	NM_007337		38138087	38138087	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	silent	131	20.00	33	SNP	0.000	T
DLEC1	9940	genome.wustl.edu	37	3	38139081	38139081	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:38139081G>A	ENST00000308059.6	+	17	2539	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E840K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E840K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTGAAATCGAAGACTCGCC	0.587																																						dbGAP											0													51.0	56.0	54.0					3																	38139081		2043	4187	6230	-	-	-	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2518G>A	3.37:g.38139081G>A	ENSP00000308597:p.Glu840Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_PapD-like	p.E840K	ENST00000308059.6	37	c.2518	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	1.686	-0.505148	0.04261	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04970	3.52;3.52;3.75	5.06	-0.362	0.12560	.	0.932449	0.09091	N	0.849788	T	0.02418	0.0074	N	0.04724	-0.175	0.09310	N	1	B;B;B	0.25850	0.031;0.136;0.067	B;B;B	0.15870	0.01;0.014;0.01	T	0.47911	-0.9080	10	0.11182	T	0.66	6.0E-4	4.6803	0.12732	0.3722:0.3319:0.2959:0.0	.	840;840;840	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	K	840	ENSP00000308597:E840K;ENSP00000315914:E840K;ENSP00000410427:E840K	ENSP00000308597:E840K	E	+	1	0	DLEC1	38114085	0.001000	0.12720	0.084000	0.20598	0.271000	0.26615	0.320000	0.19540	-0.028000	0.13850	-0.484000	0.04775	GAA	DLEC1	-	NULL	ENSG00000008226		0.587	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	117	0.00	0	G	NM_007337		38139081	38139081	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	missense	111	26.49	40	SNP	0.021	A
DLG5	9231	genome.wustl.edu	37	10	79595617	79595617	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:79595617G>C	ENST00000372391.2	-	8	1506	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	DLG5_ENST00000372388.2_Missense_Mutation_p.Q501E	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	501					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCCTTGCACTGCTTTCGAAGG	0.587																																						dbGAP											0													115.0	98.0	104.0					10																	79595617		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1501C>G	10.37:g.79595617G>C	ENSP00000361467:p.Gln501Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Q501E	ENST00000372391.2	37	c.1501	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768112	0.69878	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04551	3.6;3.65	5.8	5.8	0.92144	.	0.000000	0.36972	N	0.002314	T	0.18593	0.0446	L	0.50333	1.59	0.46096	D	0.998868	D;D;D	0.76494	0.999;0.994;0.982	D;D;D	0.80764	0.994;0.977;0.968	T	0.00064	-1.2152	10	0.44086	T	0.13	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	391;501;501	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	E	501	ENSP00000361467:Q501E;ENSP00000361464:Q501E	ENSP00000361464:Q501E	Q	-	1	0	DLG5	79265623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.735000	0.93741	0.655000	0.94253	CAG	DLG5	-	NULL	ENSG00000151208		0.587	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	98	0.00	0	G			79595617	79595617	-1	no_errors	ENST00000372391	ensembl	human	known	69_37n	missense	70	16.47	14	SNP	1.000	C
DLGAP1	9229	genome.wustl.edu	37	18	3567493	3567493	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:3567493C>A	ENST00000315677.3	-	9	2647	c.2052G>T	c.(2050-2052)gaG>gaT	p.E684D	DLGAP1_ENST00000400149.3_Missense_Mutation_p.E374D|DLGAP1_ENST00000400147.2_Missense_Mutation_p.E382D|DLGAP1_ENST00000400150.3_Missense_Mutation_p.E400D|DLGAP1_ENST00000539435.1_Missense_Mutation_p.E392D|DLGAP1_ENST00000400155.1_Missense_Mutation_p.E390D|DLGAP1_ENST00000400145.2_Missense_Mutation_p.E382D|DLGAP1_ENST00000581527.1_Missense_Mutation_p.E684D|DLGAP1_ENST00000534970.1_Missense_Mutation_p.E368D|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E684D|DLGAP1_ENST00000581699.1_Missense_Mutation_p.E390D|DLGAP1_ENST00000584874.1_Missense_Mutation_p.E684D	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	684					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTTACCACTTCTCTTCTTCTA	0.418																																						dbGAP											0													254.0	192.0	213.0					18																	3567493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2052G>T	18.37:g.3567493C>A	ENSP00000316377:p.Glu684Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.E684D	ENST00000315677.3	37	c.2052	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	C	1.540	-0.541989	0.04053	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.77	-0.307	0.12777	.	0.052575	0.85682	N	0.000000	T	0.09158	0.0226	L	0.33710	1.025	0.45648	D	0.998579	B;B;B;B;B;B;B;B	0.21071	0.035;0.051;0.008;0.012;0.008;0.01;0.024;0.007	B;B;B;B;B;B;B;B	0.24006	0.028;0.027;0.029;0.016;0.029;0.009;0.05;0.017	T	0.26573	-1.0099	10	0.08837	T	0.75	-30.4073	5.6914	0.17831	0.0:0.4936:0.1322:0.3742	.	684;368;380;390;392;382;684;382	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	D	684;382;400;374;390;368;392;382;684	ENSP00000316377:E684D;ENSP00000383011:E382D;ENSP00000383014:E400D;ENSP00000383013:E374D;ENSP00000383019:E390D;ENSP00000437817:E368D;ENSP00000446312:E392D;ENSP00000383010:E382D;ENSP00000445973:E684D	ENSP00000316377:E684D	E	-	3	2	DLGAP1	3557493	0.994000	0.37717	0.994000	0.49952	0.897000	0.52465	0.049000	0.14099	0.078000	0.16900	0.655000	0.94253	GAG	DLGAP1	-	pfam_GKAP	ENSG00000170579		0.418	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	385	0.00	0	C			3567493	3567493	-1	no_errors	ENST00000315677	ensembl	human	known	69_37n	missense	322	12.74	47	SNP	0.994	A
DLGAP4	22839	genome.wustl.edu	37	20	35154272	35154272	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:35154272C>T	ENST00000373907.2	+	11	2822	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	DLGAP4_ENST00000373913.3_Missense_Mutation_p.R872C|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R875C|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R336C|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R872C|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	875					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGCCAACCCACGCCCCACAGC	0.607																																						dbGAP											0													59.0	57.0	58.0					20																	35154272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2623C>T	20.37:g.35154272C>T	ENSP00000363014:p.Arg875Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.R875C	ENST00000373907.2	37	c.2623		20	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386645	0.42308	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	6.17	4.13	0.48395	.	0.092388	0.64402	D	0.000002	T	0.24353	0.0590	M	0.71581	2.175	0.80722	D	1	P;P;B;P	0.44429	0.835;0.568;0.075;0.495	B;B;B;B	0.40444	0.329;0.143;0.027;0.171	T	0.06267	-1.0836	10	0.87932	D	0	.	9.3959	0.38401	0.1901:0.7298:0.0:0.0801	.	181;336;875;872	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	C	872;872;875;875;336	ENSP00000363023:R872C;ENSP00000384954:R872C;ENSP00000363014:R875C;ENSP00000341633:R875C;ENSP00000345700:R336C	ENSP00000341633:R875C	R	+	1	0	DLGAP4	34587686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.968000	0.40500	1.626000	0.50381	0.655000	0.94253	CGC	DLGAP4	-	pfam_GKAP	ENSG00000080845		0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	113	0.00	0	C	NM_014902		35154272	35154272	+1	no_errors	ENST00000339266	ensembl	human	known	69_37n	missense	56	23.68	18	SNP	0.987	T
DLGAP4	22839	genome.wustl.edu	37	20	35155452	35155452	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:35155452G>T	ENST00000373907.2	+	0	3196				DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000339266.5_3'UTR|DLGAP4_ENST00000340491.4_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_3'UTR|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAGGAGGAAAGAAACGATTTT	0.478																																						dbGAP											0													24.0	26.0	25.0					20																	35155452		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.*18G>T	20.37:g.35155452G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	SNP	-	NULL	ENST00000373907.2	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.478	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	71	0.00	0	G	NM_014902		35155452	35155452	+1	no_errors	ENST00000475894	ensembl	human	known	69_37n	rna	55	17.91	12	SNP	0.003	T
DMD	1756	genome.wustl.edu	37	X	31224749	31224749	+	Missense_Mutation	SNP	T	T	G	rs377632571		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:31224749T>G	ENST00000357033.4	-	66	9805	c.9599A>C	c.(9598-9600)aAa>aCa	p.K3200T	DMD_ENST00000343523.2_Missense_Mutation_p.K740T|DMD_ENST00000378680.2_Missense_Mutation_p.K132T|DMD_ENST00000474231.1_Missense_Mutation_p.K740T|DMD_ENST00000378707.3_Missense_Mutation_p.K740T|DMD_ENST00000359836.1_Missense_Mutation_p.K740T|DMD_ENST00000541735.1_Missense_Mutation_p.K740T|DMD_ENST00000378723.3_Missense_Mutation_p.K132T|DMD_ENST00000378677.2_Missense_Mutation_p.K3196T|DMD_ENST00000378702.4_Missense_Mutation_p.K132T|DMD_ENST00000361471.4_Missense_Mutation_p.K132T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3200	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GATGCCAGTTTTAAAAGACAG	0.373																																						dbGAP											0													110.0	92.0	98.0					X																	31224749		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9599A>C	X.37:g.31224749T>G	ENSP00000354923:p.Lys3200Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.K3200T	ENST00000357033.4	37	c.9599	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.253054|4.253054	0.80135|0.80135	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.72505|.	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66|.	5.21|5.21	5.21|5.21	0.72293|0.72293	EF-hand domain, type 1 (1);|.	0.000000|.	0.39407|.	U|.	0.001368|.	D|.	0.84556|.	0.5498|.	M|M	0.93106|0.93106	3.38|3.38	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|.	0.88545|.	0.3112|.	10|.	0.87932|.	D|.	0|.	.|.	14.2073|14.2073	0.65741|0.65741	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	132;3192;3200;3196;1859;1856;740;740;740;740;740;3077;132;132;132;132|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	T|Y	3192;1859;1856;132;896;3196;3200;740;740;3200;3077;740;740;132;740;132;132|928	ENSP00000367997:K132T;ENSP00000350765:K896T;ENSP00000367948:K3196T;ENSP00000354923:K3200T;ENSP00000352894:K740T;ENSP00000340057:K740T;ENSP00000367979:K740T;ENSP00000444119:K740T;ENSP00000367974:K132T;ENSP00000417123:K740T;ENSP00000354464:K132T;ENSP00000367951:K132T|.	ENSP00000340057:K740T|.	K|X	-|-	2|3	0|2	DMD|DMD	31134670|31134670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.669000|7.669000	0.83911|0.83911	1.930000|1.930000	0.55929|0.55929	0.486000|0.486000	0.48141|0.48141	AAA|TAA	DMD	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin	ENSG00000198947		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	417	0.00	0	T	NM_004006		31224749	31224749	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	203	29.51	85	SNP	1.000	G
DMD	1756	genome.wustl.edu	37	X	31525420	31525420	+	Missense_Mutation	SNP	G	G	A	rs398124069		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:31525420G>A	ENST00000357033.4	-	56	8574	c.8368C>T	c.(8368-8370)Cgg>Tgg	p.R2790W	DMD_ENST00000343523.2_Missense_Mutation_p.R330W|DMD_ENST00000378707.3_Missense_Mutation_p.R330W|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.R330W|DMD_ENST00000378677.2_Missense_Mutation_p.R2786W|DMD_ENST00000541735.1_Missense_Mutation_p.R330W|DMD_ENST00000474231.1_Missense_Mutation_p.R330W	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2790					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R330W(1)|p.R2785W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACTTTTTCCGAAGTTCACTC	0.393																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											168.0	140.0	150.0					X																	31525420		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8368C>T	X.37:g.31525420G>A	ENSP00000354923:p.Arg2790Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R2790W	ENST00000357033.4	37	c.8368	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078457|3.078457	0.55753|0.55753	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62|.	5.75|5.75	3.8|3.8	0.43715|0.43715	.|.	0.231155|.	0.19987|.	U|.	0.101660|.	T|T	0.52058|0.52058	0.1711|0.1711	L|L	0.56769|0.56769	1.78|1.78	0.29549|0.29549	N|N	0.851512|0.851512	D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;0.995;0.988;0.995;0.995;0.998;0.999;0.999;1.0;1.0;0.992|.	D;P;P;P;P;D;D;D;D;D;P|.	0.73708|.	0.981;0.817;0.751;0.636;0.636;0.944;0.967;0.967;0.977;0.96;0.761|.	T|T	0.50591|0.50591	-0.8810|-0.8810	10|5	0.66056|.	D|.	0.02|.	.|.	11.6335|11.6335	0.51189|0.51189	0.0:0.0:0.3702:0.6298|0.0:0.0:0.3702:0.6298	.|.	2782;2790;2786;1449;1446;330;330;330;330;330;2667|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	W|L	2782;1449;1446;486;2786;2790;330;330;2790;2667;330;330;330|518	ENSP00000350765:R486W;ENSP00000367948:R2786W;ENSP00000354923:R2790W;ENSP00000352894:R330W;ENSP00000340057:R330W;ENSP00000367979:R330W;ENSP00000444119:R330W;ENSP00000417123:R330W|.	ENSP00000340057:R330W|.	R|S	-|-	1|2	2|0	DMD|DMD	31435341|31435341	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.996000|0.996000	0.88848|0.88848	1.934000|1.934000	0.40163|0.40163	1.174000|1.174000	0.42811|0.42811	0.594000|0.594000	0.82650|0.82650	CGG|TCG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	392	0.00	0	G	NM_004006		31525420	31525420	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	265	26.39	95	SNP	0.998	A
DMD	1756	genome.wustl.edu	37	X	31747750	31747750	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:31747750C>T	ENST00000357033.4	-	52	7864	c.7658G>A	c.(7657-7659)cGa>cAa	p.R2553Q	DMD_ENST00000343523.2_Missense_Mutation_p.R93Q|DMD_ENST00000378707.3_Missense_Mutation_p.R93Q|DMD_ENST00000359836.1_Missense_Mutation_p.R93Q|DMD_ENST00000378677.2_Missense_Mutation_p.R2549Q|DMD_ENST00000541735.1_Missense_Mutation_p.R93Q|DMD_ENST00000474231.1_Missense_Mutation_p.R93Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2553					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAACTTACTTCGATCCGTAAT	0.378																																						dbGAP											0													223.0	187.0	199.0					X																	31747750		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7658G>A	X.37:g.31747750C>T	ENSP00000354923:p.Arg2553Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.R2553Q	ENST00000357033.4	37	c.7658	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206076	0.79127	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.23	2.46	0.29980	.	0.000000	0.30611	U	0.009259	T	0.62466	0.2430	L	0.57536	1.79	0.39992	D	0.975057	P;D;B;D;D;P;D;D;B;B	0.89917	0.726;0.999;0.106;1.0;1.0;0.589;0.961;0.961;0.035;0.032	B;D;B;D;D;B;P;P;B;B	0.87578	0.28;0.943;0.036;0.998;0.998;0.068;0.788;0.731;0.009;0.008	T	0.58707	-0.7589	10	0.15066	T	0.55	.	10.6262	0.45508	0.0:0.8057:0.0:0.1943	.	2545;2553;2549;1212;1209;93;93;93;93;93	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	Q	2545;1212;1209;249;2549;2553;93;93;2553;2430;93;93;93	ENSP00000350765:R249Q;ENSP00000367948:R2549Q;ENSP00000354923:R2553Q;ENSP00000352894:R93Q;ENSP00000340057:R93Q;ENSP00000367979:R93Q;ENSP00000444119:R93Q;ENSP00000417123:R93Q	ENSP00000340057:R93Q	R	-	2	0	DMD	31657671	1.000000	0.71417	0.925000	0.36789	0.628000	0.37860	3.091000	0.50199	0.508000	0.28173	0.506000	0.49869	CGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.378	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	387	0.00	0	C	NM_004006		31747750	31747750	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	277	14.24	46	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32305671	32305671	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:32305671T>C	ENST00000357033.4	-	43	6471	c.6265A>G	c.(6265-6267)Aac>Gac	p.N2089D	DMD_ENST00000378677.2_Missense_Mutation_p.N2085D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2089					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACATTTTGTTAACTTTTTCC	0.398																																						dbGAP											0													197.0	167.0	178.0					X																	32305671		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6265A>G	X.37:g.32305671T>C	ENSP00000354923:p.Asn2089Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.N2089D	ENST00000357033.4	37	c.6265	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210366	0.39003	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49139	0.79;0.79	4.36	3.15	0.36227	.	0.176953	0.25372	U	0.031159	T	0.44350	0.1289	L	0.60455	1.87	0.80722	D	1	B;B;B;B;B	0.33512	0.361;0.324;0.415;0.157;0.157	B;B;B;B;B	0.38378	0.178;0.243;0.272;0.115;0.079	T	0.17228	-1.0376	10	0.21014	T	0.42	.	10.6322	0.45543	0.0:0.0:0.1585:0.8415	.	2081;2089;2085;748;745	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	D	2081;748;745;2085;2089;2089;1966	ENSP00000367948:N2085D;ENSP00000354923:N2089D	ENSP00000354923:N2089D	N	-	1	0	DMD	32215592	1.000000	0.71417	0.452000	0.26994	0.911000	0.54048	3.935000	0.56560	0.597000	0.29811	0.486000	0.48141	AAC	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	840	0.12	1	T	NM_004006		32305671	32305671	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	483	24.84	160	SNP	0.989	C
DMD	1756	genome.wustl.edu	37	X	32328392	32328392	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:32328392T>C	ENST00000357033.4	-	42	6130	c.5924A>G	c.(5923-5925)cAc>cGc	p.H1975R	DMD_ENST00000378677.2_Splice_Site_p.H1971R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1975					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACGGACAGTGTGCTGGTATAG	0.363																																						dbGAP											0													79.0	66.0	70.0					X																	32328392		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5923-1A>G	X.37:g.32328392T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.H1975R	ENST00000357033.4	37	c.5924	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	9.567	1.119952	0.20877	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49432	0.78;0.78	6.16	5.01	0.66863	.	0.389238	0.18333	N	0.144429	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.003;0.003;0.003;0.002	T	0.05225	-1.0898	10	0.20519	T	0.43	.	9.9886	0.41856	0.0:0.0764:0.0:0.9236	.	1967;1975;1971;634;631	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	R	1967;634;631;1971;1975;1975;1852	ENSP00000367948:H1971R;ENSP00000354923:H1975R	ENSP00000354923:H1975R	H	-	2	0	DMD	32238313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.181000	0.58303	0.932000	0.37266	0.481000	0.45027	CAC	DMD	-	pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	255	0.00	0	T	NM_004006	Missense_Mutation	32328392	32328392	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	123	23.93	39	SNP	1.000	C
DMD	1756	genome.wustl.edu	37	X	32459312	32459312	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:32459312G>T	ENST00000357033.4	-	28	4112	c.3906C>A	c.(3904-3906)atC>atA	p.I1302I	DMD_ENST00000378677.2_Silent_p.I1298I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1302					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCACCTCAGAGATTTCCTCAG	0.338																																						dbGAP											0													75.0	73.0	74.0					X																	32459312		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3906C>A	X.37:g.32459312G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.I1302	ENST00000357033.4	37	c.3906	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	210	0.00	0	G	NM_004006		32459312	32459312	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	silent	133	29.63	56	SNP	0.778	T
DMGDH	29958	genome.wustl.edu	37	5	78340260	78340260	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:78340260T>C	ENST00000255189.3	-	6	889	c.861A>G	c.(859-861)gaA>gaG	p.E287E	DMGDH_ENST00000380311.4_Silent_p.E86E|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	287					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCACAGGCAGTTCTCGTTTCA	0.403																																						dbGAP											0													133.0	120.0	124.0					5																	78340260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.861A>G	5.37:g.78340260T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBN0|B4E1J9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.E287	ENST00000255189.3	37	c.861	CCDS4044.1	5																																																																																			DMGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000132837		0.403	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3	162	0.00	0	T	NM_013391		78340260	78340260	-1	no_errors	ENST00000255189	ensembl	human	known	69_37n	silent	143	12.65	21	SNP	0.998	C
DMP1	1758	genome.wustl.edu	37	4	88583798	88583798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:88583798G>T	ENST00000339673.6	+	6	967	c.868G>T	c.(868-870)Gaa>Taa	p.E290*	DMP1_ENST00000282479.7_Nonsense_Mutation_p.E274*|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	290					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CACAATGGAAGAAGTCAAGAG	0.483																																						dbGAP											0													75.0	76.0	76.0					4																	88583798		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.868G>T	4.37:g.88583798G>T	ENSP00000340935:p.Glu290*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L3|O43265	Nonsense_Mutation	SNP	pfam_DMP1	p.E290*	ENST00000339673.6	37	c.868	CCDS3623.1	4	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158095	0.57368	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	.	.	.	5.4	5.4	0.78164	.	0.350142	0.24152	N	0.041077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9594	16.9653	0.86284	0.0:0.0:1.0:0.0	.	.	.	.	X	290;274	.	ENSP00000282479:E274X	E	+	1	0	DMP1	88802822	0.934000	0.31675	0.048000	0.18961	0.013000	0.08279	1.196000	0.32198	2.525000	0.85131	0.650000	0.86243	GAA	DMP1	-	pfam_DMP1	ENSG00000152592		0.483	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMP1	HGNC	protein_coding	OTTHUMT00000253047.1	282	0.00	0	G			88583798	88583798	+1	no_errors	ENST00000339673	ensembl	human	known	69_37n	nonsense	153	18.18	34	SNP	0.587	T
DMRT2	10655	genome.wustl.edu	37	9	1056555	1056555	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:1056555C>A	ENST00000358146.2	+	3	968	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	DMRT2_ENST00000302441.6_Missense_Mutation_p.S323Y|DMRT2_ENST00000382251.3_Missense_Mutation_p.S323Y|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	323					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GAACTAATTTCTTCTAATGTC	0.463																																						dbGAP											0													90.0	94.0	93.0					9																	1056555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.968C>A	9.37:g.1056555C>A	ENSP00000350865:p.Ser323Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S323Y	ENST00000358146.2	37	c.968	CCDS6444.1	9	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878047	0.72294	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.38401	1.14;1.14;1.14	5.62	5.62	0.85841	.	0.110322	0.64402	D	0.000005	T	0.60483	0.2272	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.61579	-0.7034	10	0.87932	D	0	-14.9652	19.2807	0.94051	0.0:1.0:0.0:0.0	.	323;167	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	Y	323	ENSP00000371686:S323Y;ENSP00000305785:S323Y;ENSP00000350865:S323Y	ENSP00000305785:S323Y	S	+	2	0	DMRT2	1046555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.665000	0.90641	0.650000	0.86243	TCT	DMRT2	-	NULL	ENSG00000173253		0.463	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	185	0.00	0	C	NM_006557		1056555	1056555	+1	no_errors	ENST00000302441	ensembl	human	known	69_37n	missense	120	10.45	14	SNP	1.000	A
DMXL2	23312	genome.wustl.edu	37	15	51773769	51773769	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:51773769C>T	ENST00000251076.5	-	24	5821	c.5534G>A	c.(5533-5535)cGa>cAa	p.R1845Q	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1845Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1209Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1845						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGATGAGTTCGAAGGTAGTT	0.348																																						dbGAP											0													46.0	48.0	47.0					15																	51773769		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5534G>A	15.37:g.51773769C>T	ENSP00000251076:p.Arg1845Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1845Q	ENST00000251076.5	37	c.5534	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416150	0.83449	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.36340	1.32;1.33;1.26	5.44	5.44	0.79542	.	0.054083	0.64402	D	0.000001	T	0.68247	0.2980	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.986;0.996	T	0.73965	-0.3816	10	0.62326	D	0.03	.	19.2622	0.93973	0.0:1.0:0.0:0.0	.	1845;1209;1845	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	Q	1845;1845;1209	ENSP00000251076:R1845Q;ENSP00000441858:R1845Q;ENSP00000400855:R1209Q	ENSP00000251076:R1845Q	R	-	2	0	DMXL2	49561061	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	7.445000	0.80570	2.555000	0.86185	0.650000	0.86243	CGA	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	97	0.00	0	C	NM_015263		51773769	51773769	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51778522	51778522	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:51778522T>G	ENST00000251076.5	-	23	5517	c.5230A>C	c.(5230-5232)Aaa>Caa	p.K1744Q	DMXL2_ENST00000543779.2_Missense_Mutation_p.K1744Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.K1108Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1744						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTTCCATTTTTTCAAGACAT	0.289																																						dbGAP											0													56.0	59.0	58.0					15																	51778522		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.5230A>C	15.37:g.51778522T>G	ENSP00000251076:p.Lys1744Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1744Q	ENST00000251076.5	37	c.5230	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624679	0.87560	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.39229	1.09;1.09;1.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	L	0.39326	1.205	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.994;0.998	T	0.59984	-0.7351	10	0.87932	D	0	.	15.9178	0.79535	0.0:0.0:0.0:1.0	.	1744;1108;1744	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	Q	1744;1744;1108	ENSP00000251076:K1744Q;ENSP00000441858:K1744Q;ENSP00000400855:K1108Q	ENSP00000251076:K1744Q	K	-	1	0	DMXL2	49565814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.831000	0.86748	2.216000	0.71823	0.533000	0.62120	AAA	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.289	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	157	0.00	0	T	NM_015263		51778522	51778522	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	107	10.83	13	SNP	1.000	G
DMXL2	23312	genome.wustl.edu	37	15	51792037	51792037	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:51792037C>A	ENST00000251076.5	-	18	3671	c.3384G>T	c.(3382-3384)ttG>ttT	p.L1128F	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1128F|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1128						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CAACCTTAACCAAATCATCAA	0.368																																						dbGAP											0													74.0	68.0	70.0					15																	51792037		2194	4293	6487	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3384G>T	15.37:g.51792037C>A	ENSP00000251076:p.Leu1128Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1128F	ENST00000251076.5	37	c.3384	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	7.109	0.575711	0.13623	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.23147	1.92;1.92	5.24	2.96	0.34315	.	0.120482	0.56097	D	0.000021	T	0.14141	0.0342	N	0.14661	0.345	0.80722	D	1	B;B	0.21753	0.06;0.028	B;B	0.21917	0.037;0.024	T	0.06552	-1.0820	10	0.46703	T	0.11	.	8.2446	0.31680	0.0:0.6915:0.0:0.3085	.	1128;1128	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	F	1128	ENSP00000251076:L1128F;ENSP00000441858:L1128F	ENSP00000251076:L1128F	L	-	3	2	DMXL2	49579329	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.536000	0.23129	1.169000	0.42739	0.591000	0.81541	TTG	DMXL2	-	NULL	ENSG00000104093		0.368	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	174	0.00	0	C	NM_015263		51792037	51792037	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	156	18.32	35	SNP	0.997	A
DMXL2	23312	genome.wustl.edu	37	15	51799419	51799419	+	Missense_Mutation	SNP	G	G	T	rs151009340		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:51799419G>T	ENST00000251076.5	-	16	2963	c.2676C>A	c.(2674-2676)ttC>ttA	p.F892L	DMXL2_ENST00000543779.2_Missense_Mutation_p.F892L|DMXL2_ENST00000449909.3_Missense_Mutation_p.F892L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	892						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTACTAGAAAGAACTTTTCTG	0.303																																						dbGAP											0													95.0	92.0	93.0					15																	51799419		2195	4289	6484	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2676C>A	15.37:g.51799419G>T	ENSP00000251076:p.Phe892Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F892L	ENST00000251076.5	37	c.2676	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772002	0.69992	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.39787	1.06;1.06;1.06	4.83	2.94	0.34122	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.81802	2.56	0.25071	N	0.990995	D;D;D	0.76494	0.999;0.979;0.986	D;D;D	0.85130	0.997;0.982;0.968	T	0.54906	-0.8223	10	0.87932	D	0	.	9.0071	0.36117	0.2451:0.0:0.7549:0.0	.	892;892;892	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	L	892	ENSP00000251076:F892L;ENSP00000441858:F892L;ENSP00000400855:F892L	ENSP00000251076:F892L	F	-	3	2	DMXL2	49586711	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.178000	0.42519	0.449000	0.26747	0.484000	0.47621	TTC	DMXL2	-	NULL	ENSG00000104093		0.303	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	332	0.00	0	G	NM_015263		51799419	51799419	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	210	10.64	25	SNP	1.000	T
DNAAF1	123872	genome.wustl.edu	37	16	84193299	84193299	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:84193299G>A	ENST00000378553.5	+	6	885	c.761G>A	c.(760-762)gGa>gAa	p.G254E	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.G254E	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	254					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AATTTGATGGGAAACCCGGTT	0.388																																						dbGAP											0													101.0	86.0	91.0					16																	84193299		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.761G>A	16.37:g.84193299G>A	ENSP00000367815:p.Gly254Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.G254E	ENST00000378553.5	37	c.761	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768958	0.90020	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.26518	1.73;1.73	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.58323	-0.7656	10	0.87932	D	0	-18.0909	18.8574	0.92259	0.0:0.0:1.0:0.0	.	2;254	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	E	254	ENSP00000334593:G254E;ENSP00000367815:G254E	ENSP00000334593:G254E	G	+	2	0	DNAAF1	82750800	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.019000	0.93662	2.455000	0.83008	0.650000	0.86243	GGA	DNAAF1	-	NULL	ENSG00000154099		0.388	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	221	0.00	0	G	NM_178452		84193299	84193299	+1	no_errors	ENST00000378553	ensembl	human	known	69_37n	missense	138	11.32	18	SNP	1.000	A
DNAAF3	352909	genome.wustl.edu	37	19	55677884	55677884	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55677884C>T	ENST00000524407.2	-	1	30				DNAAF3_ENST00000391720.4_Missense_Mutation_p.A45T|DNAAF3_ENST00000527223.2_Missense_Mutation_p.A45T|snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000455045.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3						axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TGATACCTTGCCCACACCTTT	0.622											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													160.0	178.0	172.0					19																	55677884		1983	4137	6120	-	-	-	SO:0001627	intron_variant	0			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.3+6G>A	19.37:g.55677884C>T		Somatic	1009	WXS	Illumina GAIIx	Phase_IV	A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	NULL	p.A45T	ENST00000524407.2	37	c.133	CCDS59422.1	19	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862191	0.32884	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.20069	2.1	3.33	-1.4	0.08968	.	7.442290	0.01431	U	0.014749	T	0.15089	0.0364	L	0.39898	1.24	0.09310	N	0.999994	B	0.25904	0.137	B	0.16289	0.015	T	0.11251	-1.0595	10	0.20519	T	0.43	.	3.5156	0.07723	0.0:0.4502:0.1959:0.3539	.	45	E9PAX5	.	T	45	ENSP00000375600:A45T	ENSP00000301249:A45T	A	-	1	0	C19orf51	60369696	0.017000	0.18338	0.007000	0.13788	0.001000	0.01503	0.134000	0.15932	-0.145000	0.11294	-0.136000	0.14681	GCA	DNAAF3	-	NULL	ENSG00000167646		0.622	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	53	0.00	0	C	NM_178837		55677884	55677884	-1	no_errors	ENST00000527223	ensembl	human	known	69_37n	missense	37	25.49	13	SNP	0.007	T
DNAH1	25981	genome.wustl.edu	37	3	52425047	52425047	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:52425047G>A	ENST00000420323.2	+	61	9979	c.9718G>A	c.(9718-9720)Gcc>Acc	p.A3240T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3305					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGAGCCAGGCCAACAAATG	0.602																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9718G>A	3.37:g.52425047G>A	ENSP00000401514:p.Ala3240Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.A3240T	ENST00000420323.2	37	c.9718	CCDS46842.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.212457|5.212457	0.95069|0.95069	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000420323|ENST00000480649	T|.	0.22336|.	1.96|.	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.87884|0.87884	0.6290|0.6290	H|H	0.96833|0.96833	3.89|3.89	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.91635|.	0.999;0.995|.	D|D	0.92428|0.92428	0.5951|0.5951	10|5	0.87932|.	D|.	0|.	.|.	17.0301|17.0301	0.86458|0.86458	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3240;3305|.	C9JXH6;Q9P2D7-2|.	.;.|.	T|D	3240|51	ENSP00000401514:A3240T|.	ENSP00000401514:A3240T|.	A|G	+|+	1|2	0|0	DNAH1|DNAH1	52400087|52400087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.597000|9.597000	0.98273|0.98273	2.255000|2.255000	0.74692|0.74692	0.563000|0.563000	0.77884|0.77884	GCC|GGC	DNAH1	-	NULL	ENSG00000114841		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	68	0.00	0	G	NM_015512		52425047	52425047	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124265777	124265777	+	Silent	SNP	C	C	A	rs144283758	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124265777C>A	ENST00000409039.3	+	6	614	c.589C>A	c.(589-591)Cgg>Agg	p.R197R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	197	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAATTAATACGGGATGAATT	0.403																																						dbGAP											0													160.0	171.0	167.0					12																	124265777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.589C>A	12.37:g.124265777C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.R197	ENST00000409039.3	37	c.589	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.403	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	299	0.00	0	C			124265777	124265777	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	silent	242	12.95	36	SNP	0.814	A
DNAH10	196385	genome.wustl.edu	37	12	124319952	124319952	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124319952G>T	ENST00000409039.3	+	27	4450		c.e27-1			NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACATTTACAGATTTGGATGT	0.398																																						dbGAP											0													118.0	107.0	110.0					12																	124319952		1901	4122	6023	-	-	-	SO:0001630	splice_region_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4426-1G>T	12.37:g.124319952G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Splice_Site	SNP	-	e27-1	ENST00000409039.3	37	c.4426-1	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856070	0.71834	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4259	0.94741	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH10	122885905	1.000000	0.71417	0.973000	0.42090	0.874000	0.50279	9.232000	0.95325	2.682000	0.91365	0.650000	0.86243	.	DNAH10	-	-	ENSG00000197653		0.398	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	321	0.00	0	G		Intron	124319952	124319952	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	splice_site	213	14.11	35	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124323133	124323133	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124323133C>T	ENST00000409039.3	+	28	4704	c.4679C>T	c.(4678-4680)tCg>tTg	p.S1560L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1560	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACTTAGATTCGAAGAGAAAT	0.512																																						dbGAP											0													114.0	116.0	116.0					12																	124323133		1958	4149	6107	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4679C>T	12.37:g.124323133C>T	ENSP00000386770:p.Ser1560Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.S1560L	ENST00000409039.3	37	c.4679	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096633	0.36952	.	.	ENSG00000197653	ENST00000409039	T	0.62639	0.01	5.58	4.68	0.58851	Dynein heavy chain, domain-2 (1);	0.358505	0.25089	U	0.033227	T	0.76054	0.3934	M	0.79926	2.475	0.52099	D	0.999945	D	0.62365	0.991	P	0.55667	0.781	T	0.80181	-0.1489	10	0.59425	D	0.04	.	16.5532	0.84477	0.0:0.8695:0.1305:0.0	.	1560	Q8IVF4	DYH10_HUMAN	L	1560	ENSP00000386770:S1560L	ENSP00000386770:S1560L	S	+	2	0	DNAH10	122889086	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	4.769000	0.62300	1.350000	0.45770	0.655000	0.94253	TCG	DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	343	0.00	0	C			124323133	124323133	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	208	12.61	30	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124352083	124352083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124352083G>T	ENST00000409039.3	+	41	6908	c.6883G>T	c.(6883-6885)Gga>Tga	p.G2295*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2295					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATAGTGGAAGGAATTGTGGA	0.378																																						dbGAP											0													86.0	82.0	83.0					12																	124352083		1892	4114	6006	-	-	-	SO:0001587	stop_gained	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6883G>T	12.37:g.124352083G>T	ENSP00000386770:p.Gly2295*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.G2295*	ENST00000409039.3	37	c.6883	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	45	11.769731	0.99601	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.18	5.18	0.71444	.	0.000000	0.56097	U	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6929	0.91589	0.0:0.0:1.0:0.0	.	.	.	.	X	2295	.	ENSP00000386770:G2295X	G	+	1	0	DNAH10	122918036	1.000000	0.71417	0.231000	0.23993	0.052000	0.14988	7.921000	0.87530	2.409000	0.81822	0.460000	0.39030	GGA	DNAH10	-	NULL	ENSG00000197653		0.378	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	370	0.00	0	G			124352083	124352083	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	nonsense	284	14.20	47	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124362406	124362406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124362406C>T	ENST00000409039.3	+	47	7994	c.7969C>T	c.(7969-7971)Cga>Tga	p.R2657*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2657	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTCAACCTTCGAGATCTCTC	0.433																																						dbGAP											0													172.0	176.0	174.0					12																	124362406		1976	4157	6133	-	-	-	SO:0001587	stop_gained	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7969C>T	12.37:g.124362406C>T	ENSP00000386770:p.Arg2657*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.R2657*	ENST00000409039.3	37	c.7969	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	49	15.471345	0.99835	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9036	0.92452	0.0:1.0:0.0:0.0	.	.	.	.	X	2657	.	ENSP00000386770:R2657X	R	+	1	2	DNAH10	122928359	0.998000	0.40836	0.539000	0.28077	0.917000	0.54804	3.805000	0.55575	2.572000	0.86782	0.555000	0.69702	CGA	DNAH10	-	NULL	ENSG00000197653		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	244	0.00	0	C			124362406	124362406	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	nonsense	188	17.18	39	SNP	0.991	T
DNAH10	196385	genome.wustl.edu	37	12	124408860	124408860	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124408860C>T	ENST00000409039.3	+	66	11318	c.11293C>T	c.(11293-11295)Ccc>Tcc	p.P3765S	RP11-380L11.4_ENST00000602952.1_RNA|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3765					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAAAAAAGCCCTGCGCTTG	0.403																																						dbGAP											0													71.0	71.0	71.0					12																	124408860		1839	4106	5945	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11293C>T	12.37:g.124408860C>T	ENSP00000386770:p.Pro3765Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.P3765S	ENST00000409039.3	37	c.11293	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529757	0.64860	.	.	ENSG00000197653	ENST00000409039	T	0.07800	3.16	4.96	4.96	0.65561	Dynein heavy chain (1);	0.380726	0.26769	N	0.022590	T	0.39937	0.1097	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.54603	-0.8269	10	0.66056	D	0.02	.	18.2037	0.89847	0.0:1.0:0.0:0.0	.	3765	Q8IVF4	DYH10_HUMAN	S	3765	ENSP00000386770:P3765S	ENSP00000386770:P3765S	P	+	1	0	DNAH10	122974813	1.000000	0.71417	0.857000	0.33713	0.116000	0.19942	7.465000	0.80898	2.267000	0.75376	0.561000	0.74099	CCC	DNAH10	-	pfam_Dynein_heavy	ENSG00000197653		0.403	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	124	0.00	0	C			124408860	124408860	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	65	38.68	41	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21641030	21641030	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:21641030G>T	ENST00000409508.3	+	18	3473	c.3442G>T	c.(3442-3444)Gaa>Taa	p.E1148*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E1148*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1148	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGCTACAAGAATTTATAAA	0.313									Kartagener syndrome																													dbGAP											0													61.0	60.0	61.0					7																	21641030		1796	4071	5867	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3442G>T	7.37:g.21641030G>T	ENSP00000475939:p.Glu1148*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E1148*	ENST00000409508.3	37	c.3442		7	.	.	.	.	.	.	.	.	.	.	G	42	9.758724	0.99256	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.71	5.71	0.89125	.	0.573281	0.17712	N	0.164543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.4627	0.94924	0.0:0.0:1.0:0.0	.	.	.	.	X	1148	.	ENSP00000330671:E1148X	E	+	1	0	DNAH11	21607555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.507000	0.53371	2.709000	0.92574	0.655000	0.94253	GAA	DNAH11	-	NULL	ENSG00000105877		0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	239	0.00	0	G	NM_003777		21641030	21641030	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	nonsense	242	13.88	39	SNP	0.980	T
DNAH11	8701	genome.wustl.edu	37	7	21678629	21678629	+	Silent	SNP	C	C	T	rs569494115		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:21678629C>T	ENST00000409508.3	+	28	4921	c.4890C>T	c.(4888-4890)ttC>ttT	p.F1630F	DNAH11_ENST00000328843.6_Silent_p.F1635F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1635	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTCTATTTCGTCTCTTCTG	0.383									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		19973	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													161.0	158.0	159.0					7																	21678629		1878	4099	5977	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4890C>T	7.37:g.21678629C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F1635	ENST00000409508.3	37	c.4905		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-2	ENSG00000105877		0.383	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	755	0.00	0	C	NM_003777		21678629	21678629	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	silent	542	13.00	81	SNP	1.000	T
DNAH11	8701	genome.wustl.edu	37	7	21742383	21742383	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:21742383C>A	ENST00000409508.3	+	37	6267	c.6236C>A	c.(6235-6237)tCt>tAt	p.S2079Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2086Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2086	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGCTGGATCTCTGAAACGA	0.398									Kartagener syndrome																													dbGAP											0													110.0	104.0	106.0					7																	21742383		1916	4143	6059	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6236C>A	7.37:g.21742383C>A	ENSP00000475939:p.Ser2079Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S2086Y	ENST00000409508.3	37	c.6257		7	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856743	0.91433	.	.	ENSG00000105877	ENST00000328843	T	0.14144	2.53	5.11	5.11	0.69529	.	0.300122	0.34025	N	0.004331	T	0.36799	0.0980	.	.	.	0.80722	D	1	D	0.56746	0.977	P	0.60173	0.87	T	0.16988	-1.0384	9	0.87932	D	0	.	18.8973	0.92429	0.0:1.0:0.0:0.0	.	2086	Q96DT5	DYH11_HUMAN	Y	2086	ENSP00000330671:S2086Y	ENSP00000330671:S2086Y	S	+	2	0	DNAH11	21708908	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	3.982000	0.56909	2.547000	0.85894	0.655000	0.94253	TCT	DNAH11	-	NULL	ENSG00000105877		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	370	0.27	1	C	NM_003777		21742383	21742383	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	missense	234	13.97	38	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21813517	21813517	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:21813517C>A	ENST00000409508.3	+	56	9267	c.9236C>A	c.(9235-9237)tCa>tAa	p.S3079*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.S3086*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3086	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAACAAATATCACTGTTTAAG	0.403									Kartagener syndrome																													dbGAP											0													69.0	64.0	65.0					7																	21813517		1828	4076	5904	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9236C>A	7.37:g.21813517C>A	ENSP00000475939:p.Ser3079*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3086*	ENST00000409508.3	37	c.9257		7	.	.	.	.	.	.	.	.	.	.	C	51	17.353790	0.99884	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.73	4.8	0.61643	.	0.468333	0.22544	N	0.058692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8334	0.29355	0.0:0.7289:0.1596:0.1115	.	.	.	.	X	3086	.	ENSP00000330671:S3086X	S	+	2	0	DNAH11	21780042	0.021000	0.18746	1.000000	0.80357	0.933000	0.57130	0.465000	0.22004	2.708000	0.92522	0.655000	0.94253	TCA	DNAH11	-	NULL	ENSG00000105877		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	223	0.00	0	C	NM_003777		21813517	21813517	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	nonsense	124	10.79	15	SNP	0.965	A
DNAH11	8701	genome.wustl.edu	37	7	21882184	21882184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:21882184G>T	ENST00000409508.3	+	66	10745	c.10714G>T	c.(10714-10716)Gaa>Taa	p.E3572*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.E3579*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3579	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAGATAAAGAATGTGAATT	0.393									Kartagener syndrome																													dbGAP											0													117.0	110.0	112.0					7																	21882184		1873	4111	5984	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10714G>T	7.37:g.21882184G>T	ENSP00000475939:p.Glu3572*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3579*	ENST00000409508.3	37	c.10735		7	.	.	.	.	.	.	.	.	.	.	G	53	20.282535	0.99929	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8716	0.88813	0.0:0.0:1.0:0.0	.	.	.	.	X	3579	.	ENSP00000330671:E3579X	E	+	1	0	DNAH11	21848709	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.749000	0.68704	2.514000	0.84764	0.655000	0.94253	GAA	DNAH11	-	NULL	ENSG00000105877		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	424	0.00	0	G	NM_003777		21882184	21882184	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	nonsense	322	11.54	42	SNP	1.000	T
DNAH12	201625	genome.wustl.edu	37	3	57391427	57391427	+	Nonsense_Mutation	SNP	C	C	A	rs559595180		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:57391427C>A	ENST00000351747.2	-	41	6652	c.6472G>T	c.(6472-6474)Gaa>Taa	p.E2158*		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2158					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TGAAATGATTCTTTAAAATGG	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		17303	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													71.0	56.0	61.0					3																	57391427		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.6472G>T	3.37:g.57391427C>A	ENSP00000295937:p.Glu2158*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E2158*	ENST00000351747.2	37	c.6472		3	.	.	.	.	.	.	.	.	.	.	C	48	14.075775	0.99778	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	X	2158;2177	.	ENSP00000295937:E2158X	E	-	1	0	DNAH12	57366467	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.678000	0.84035	2.794000	0.96219	0.650000	0.86243	GAA	DNAH12	-	NULL	ENSG00000174844		0.348	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		144	0.00	0	C	NM_178504		57391427	57391427	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	nonsense	100	10.71	12	SNP	1.000	A
DNAH12	201625	genome.wustl.edu	37	3	57405200	57405200	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:57405200T>G	ENST00000351747.2	-	37	5731	c.5551A>C	c.(5551-5553)Aat>Cat	p.N1851H		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1851					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AAATTAGTATTTTTAATTAAT	0.289																																						dbGAP											0													69.0	58.0	61.0					3																	57405200		692	1589	2281	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.5551A>C	3.37:g.57405200T>G	ENSP00000295937:p.Asn1851His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N1851H	ENST00000351747.2	37	c.5551		3	.	.	.	.	.	.	.	.	.	.	T	15.51	2.856225	0.51376	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.17213	2.29;2.29	6.1	6.1	0.99115	.	.	.	.	.	T	0.22360	0.0539	L	0.53249	1.67	0.80722	D	1	B	0.33448	0.412	B	0.37833	0.259	T	0.01528	-1.1332	9	0.52906	T	0.07	.	13.6476	0.62290	0.0:0.0:0.1285:0.8715	.	1851	Q6ZR08	DYH12_HUMAN	H	1851;1870	ENSP00000295937:N1851H;ENSP00000418137:N1870H	ENSP00000295937:N1851H	N	-	1	0	DNAH12	57380240	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.108000	0.50337	2.340000	0.79590	0.528000	0.53228	AAT	DNAH12	-	NULL	ENSG00000174844		0.289	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		134	0.00	0	T	NM_178504		57405200	57405200	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	155	13.33	24	SNP	0.981	G
DNAH14	127602	genome.wustl.edu	37	1	225380527	225380527	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:225380527C>T	ENST00000445597.2	+	25	4519	c.4519C>T	c.(4519-4521)Cga>Tga	p.R1507*	DNAH14_ENST00000430092.1_Nonsense_Mutation_p.R1912*|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.R1912*			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1507					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGCAACAATTCGAAGTTATGT	0.323																																						dbGAP											0													181.0	150.0	159.0					1																	225380527		692	1585	2277	-	-	-	SO:0001587	stop_gained	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.4519C>T	1.37:g.225380527C>T	ENSP00000409472:p.Arg1507*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.R1912*	ENST00000445597.2	37	c.5734		1	.	.	.	.	.	.	.	.	.	.	C	36	5.655191	0.96724	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375;ENST00000328556	.	.	.	5.22	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3422	0.60551	0.3562:0.6437:0.0:0.0	.	.	.	.	X	1507;1912;1912;1006	.	ENSP00000332424:R1006X	R	+	1	2	DNAH14	223447150	0.995000	0.38212	0.981000	0.43875	0.827000	0.46813	0.141000	0.16076	1.288000	0.44600	0.603000	0.83216	CGA	DNAH14	-	smart_AAA+_ATPase	ENSG00000185842		0.323	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	356	0.00	0	C	XM_059166		225380527	225380527	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	nonsense	291	10.19	33	SNP	0.996	T
DNAH14	127602	genome.wustl.edu	37	1	225452973	225452973	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:225452973T>G	ENST00000445597.2	+	32	5674	c.5674T>G	c.(5674-5676)Ttt>Gtt	p.F1892V	DNAH14_ENST00000430092.1_Missense_Mutation_p.F2432V|DNAH14_ENST00000439375.2_Missense_Mutation_p.F2432V			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1892					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TACAATAAATTTTAGCACCAA	0.333																																						dbGAP											0													90.0	74.0	79.0					1																	225452973		692	1589	2281	-	-	-	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.5674T>G	1.37:g.225452973T>G	ENSP00000409472:p.Phe1892Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.F2432V	ENST00000445597.2	37	c.7294		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.12|16.12	3.032401|3.032401	0.54790|0.54790	.|.	.|.	ENSG00000185842|ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375|ENST00000450490	T;T;T|.	0.48522|.	1.87;0.81;0.81|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.66197|0.66197	0.2765|0.2765	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.64776|.	0.929|.	T|T	0.67688|0.67688	-0.5606|-0.5606	9|5	0.37606|.	T|.	0.19|.	.|.	8.1122|8.1122	0.30922|0.30922	0.0:0.0906:0.0:0.9094|0.0:0.0906:0.0:0.9094	.|.	2432|.	Q0VDD8-4|.	.|.	V|M	1892;2432;2432|203	ENSP00000409472:F1892V;ENSP00000414402:F2432V;ENSP00000392061:F2432V|.	ENSP00000414402:F2432V|.	F|I	+|+	1|3	0|3	DNAH14|DNAH14	223519596|223519596	1.000000|1.000000	0.71417|0.71417	0.328000|0.328000	0.25416|0.25416	0.736000|0.736000	0.42039|0.42039	3.249000|3.249000	0.51437|0.51437	2.059000|2.059000	0.61396|0.61396	0.438000|0.438000	0.28831|0.28831	TTT|ATT	DNAH14	-	superfamily_Tautomerase,smart_AAA+_ATPase	ENSG00000185842		0.333	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	156	0.00	0	T	XM_059166		225452973	225452973	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	145	14.71	25	SNP	0.651	G
DNAH14	127602	genome.wustl.edu	37	1	225521159	225521159	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:225521159C>A	ENST00000445597.2	+	45	7485				DNAH14_ENST00000430092.1_Missense_Mutation_p.S3251Y|DNAH14_ENST00000439375.2_Missense_Mutation_p.S3251Y			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AATGGCATTTCTTTGTCTTCC	0.328																																						dbGAP											0													92.0	79.0	83.0					1																	225521159		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.7486-3809C>A	1.37:g.225521159C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.S3251Y	ENST00000445597.2	37	c.9752		1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905450	0.72868	.	.	ENSG00000185842	ENST00000430092;ENST00000439375	T;T	0.30981	1.51;1.51	5.34	5.34	0.76211	.	0.626659	0.13055	N	0.417341	T	0.50240	0.1604	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	P	0.58873	0.847	T	0.48103	-0.9064	10	0.87932	D	0	.	17.8162	0.88635	0.0:1.0:0.0:0.0	.	3251	Q0VDD8-4	.	Y	3251	ENSP00000414402:S3251Y;ENSP00000392061:S3251Y	ENSP00000414402:S3251Y	S	+	2	0	DNAH14	223587782	0.306000	0.24490	0.943000	0.38184	0.825000	0.46686	1.792000	0.38754	2.497000	0.84241	0.603000	0.83216	TCT	DNAH14	-	NULL	ENSG00000185842		0.328	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	153	0.00	0	C	XM_059166		225521159	225521159	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	115	10.16	13	SNP	0.985	A
DNAH14	127602	genome.wustl.edu	37	1	225533688	225533688	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:225533688T>G	ENST00000445597.2	+	48	8015	c.8015T>G	c.(8014-8016)aTt>aGt	p.I2672S	DNAH14_ENST00000430092.1_Missense_Mutation_p.I3475S|DNAH14_ENST00000439375.2_Missense_Mutation_p.I3475S			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2672					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						GATGACAAAATTGTAGATACC	0.318																																						dbGAP											0													65.0	49.0	54.0					1																	225533688		692	1591	2283	-	-	-	SO:0001583	missense	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.8015T>G	1.37:g.225533688T>G	ENSP00000409472:p.Ile2672Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.I3475S	ENST00000445597.2	37	c.10424		1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966007	0.34659	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	T;T;T	0.61742	0.08;0.08;0.08	5.34	5.34	0.76211	.	.	.	.	.	T	0.59702	0.2213	.	.	.	0.80722	D	1	P	0.51933	0.949	P	0.45881	0.496	T	0.66015	-0.6028	8	0.87932	D	0	.	14.2706	0.66149	0.0:0.0:0.0:1.0	.	3475	Q0VDD8-4	.	S	2672;3475;3475	ENSP00000409472:I2672S;ENSP00000414402:I3475S;ENSP00000392061:I3475S	ENSP00000414402:I3475S	I	+	2	0	DNAH14	223600311	0.073000	0.21202	0.003000	0.11579	0.078000	0.17371	2.188000	0.42612	1.998000	0.58463	0.416000	0.27883	ATT	DNAH14	-	NULL	ENSG00000185842		0.318	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	107	0.00	0	T	XM_059166		225533688	225533688	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	missense	76	16.48	15	SNP	0.021	G
DNAH14	127602	genome.wustl.edu	37	1	225533740	225533740	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:225533740C>T	ENST00000445597.2	+	48	8067	c.8067C>T	c.(8065-8067)cgC>cgT	p.R2689R	DNAH14_ENST00000430092.1_Silent_p.R3492R|DNAH14_ENST00000439375.2_Silent_p.R3492R			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2689					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTTCAAAGCGCATCGAAGCAA	0.383																																						dbGAP											0													106.0	80.0	88.0					1																	225533740		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.8067C>T	1.37:g.225533740C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	superfamily_Tautomerase	p.H1218Y	ENST00000445597.2	37	c.3652		1																																																																																			DNAH14	-	NULL	ENSG00000185842		0.383	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	154	0.00	0	C	XM_059166		225533740	225533740	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000327794	ensembl	human	known	69_37n	missense	126	14.09	21	SNP	0.154	T
DNAH2	146754	genome.wustl.edu	37	17	7660481	7660481	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7660481G>T	ENST00000572933.1	+	13	3437	c.1977G>T	c.(1975-1977)gtG>gtT	p.V659V	RPL29P2_ENST00000498671.1_RNA|DNAH2_ENST00000389173.2_Silent_p.V659V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	659	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTACGTGGTGAACGTAGCTG	0.542																																						dbGAP											0													181.0	173.0	176.0					17																	7660481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1977G>T	17.37:g.7660481G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.V659	ENST00000572933.1	37	c.1977	CCDS32551.1	17																																																																																			DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	152	0.00	0	G	NM_020877		7660481	7660481	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	silent	62	35.42	34	SNP	0.445	T
DNAH2	146754	genome.wustl.edu	37	17	7720727	7720727	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7720727C>T	ENST00000572933.1	+	65	11474	c.10014C>T	c.(10012-10014)atC>atT	p.I3338I	DNAH2_ENST00000389173.2_Silent_p.I3338I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3338					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAATCTGGATCGGGAAGGTGA	0.577																																						dbGAP											0													94.0	100.0	98.0					17																	7720727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10014C>T	17.37:g.7720727C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.I3338	ENST00000572933.1	37	c.10014	CCDS32551.1	17																																																																																			DNAH2	-	NULL	ENSG00000183914		0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	268	0.00	0	C	NM_020877		7720727	7720727	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	silent	144	23.40	44	SNP	0.110	T
DNAH3	55567	genome.wustl.edu	37	16	20996486	20996486	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20996486G>A	ENST00000261383.3	-	48	7577	c.7578C>T	c.(7576-7578)atC>atT	p.I2526I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2526	AAA 4. {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)		TCTTCTCCACGATGTCAGCCT	0.473																																						dbGAP											0													107.0	88.0	94.0					16																	20996486		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			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.7578C>T	16.37:g.20996486G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.I2526	ENST00000261383.3	37	c.7578	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	59	0.00	0	G	NM_017539		20996486	20996486	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	28	46.15	24	SNP	0.981	A
DNAH5	1767	genome.wustl.edu	37	5	13700902	13700902	+	Missense_Mutation	SNP	C	C	T	rs199916139		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:13700902C>T	ENST00000265104.4	-	78	13674	c.13570G>A	c.(13570-13572)Gac>Aac	p.D4524N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4524					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGAAATGTCGTCCTTCATC	0.473									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		19541	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													187.0	173.0	178.0					5																	13700902		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13570G>A	5.37:g.13700902C>T	ENSP00000265104:p.Asp4524Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D4524N	ENST00000265104.4	37	c.13570	CCDS3882.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.760999	0.96906	.	.	ENSG00000039139	ENST00000265104	T	0.08546	3.08	5.95	5.95	0.96441	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.00146	-1.1991	10	0.46703	T	0.11	.	20.4024	0.99000	0.0:1.0:0.0:0.0	.	4524	Q8TE73	DYH5_HUMAN	N	4524	ENSP00000265104:D4524N	ENSP00000265104:D4524N	D	-	1	0	DNAH5	13753902	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	7.771000	0.85420	2.827000	0.97445	0.650000	0.86243	GAC	DNAH5	-	pfam_Dynein_heavy	ENSG00000039139		0.473	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	277	0.00	0	C	NM_001369		13700902	13700902	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	147	30.84	66	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13701435	13701435	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:13701435C>T	ENST00000265104.4	-	77	13553	c.13449G>A	c.(13447-13449)acG>acA	p.T4483T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4483					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAAAAAACCCGTCATCCAAA	0.428									Kartagener syndrome																													dbGAP											0													82.0	90.0	87.0					5																	13701435		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13449G>A	5.37:g.13701435C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T4483	ENST00000265104.4	37	c.13449	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy	ENSG00000039139		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	234	0.00	0	C	NM_001369		13701435	13701435	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	131	37.44	79	SNP	0.707	T
DNAH5	1767	genome.wustl.edu	37	5	13842011	13842011	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:13842011G>A	ENST00000265104.4	-	33	5378	c.5274C>T	c.(5272-5274)atC>atT	p.I1758I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1758	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCGATCATAGATCTATGTTA	0.333									Kartagener syndrome																													dbGAP											0													58.0	58.0	58.0					5																	13842011		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5274C>T	5.37:g.13842011G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I1758	ENST00000265104.4	37	c.5274	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.333	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	107	0.93	1	G	NM_001369		13842011	13842011	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	66	20.00	17	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13913884	13913884	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:13913884C>T	ENST00000265104.4	-	11	1608	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	502	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGCCCTTCAATTGTGGAA	0.343									Kartagener syndrome																													dbGAP											0													119.0	123.0	122.0					5																	13913884		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1504G>A	5.37:g.13913884C>T	ENSP00000265104:p.Glu502Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E502K	ENST00000265104.4	37	c.1504	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915553	0.92178	.	.	ENSG00000039139	ENST00000265104	T	0.56941	0.43	5.67	4.8	0.61643	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	M	0.90425	3.115	0.80722	D	1	P	0.40230	0.708	P	0.53518	0.728	T	0.74234	-0.3731	10	0.33141	T	0.24	.	14.5452	0.68024	0.0:0.9294:0.0:0.0706	.	502	Q8TE73	DYH5_HUMAN	K	502	ENSP00000265104:E502K	ENSP00000265104:E502K	E	-	1	0	DNAH5	13966884	1.000000	0.71417	0.882000	0.34594	0.817000	0.46193	6.058000	0.71126	1.399000	0.46721	0.557000	0.71058	GAA	DNAH5	-	pfam_Dynein_heavy_dom-1	ENSG00000039139		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	388	0.00	0	C	NM_001369		13913884	13913884	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	229	11.24	29	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13919382	13919382	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:13919382C>A	ENST00000265104.4	-	7	982	c.878G>T	c.(877-879)aGa>aTa	p.R293I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGGAGAGTCTTTTTTTCCA	0.517									Kartagener syndrome																													dbGAP											0													146.0	157.0	153.0					5																	13919382		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.878G>T	5.37:g.13919382C>A	ENSP00000265104:p.Arg293Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R293I	ENST00000265104.4	37	c.878	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	23.1	4.371013	0.82573	.	.	ENSG00000039139	ENST00000265104	T	0.59364	0.27	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.91510	3.215	0.80722	D	1	D	0.64830	0.994	D	0.72075	0.976	D	0.83425	0.0035	10	0.59425	D	0.04	.	13.6849	0.62511	0.0:0.9234:0.0:0.0765	.	293	Q8TE73	DYH5_HUMAN	I	293	ENSP00000265104:R293I	ENSP00000265104:R293I	R	-	2	0	DNAH5	13972382	0.996000	0.38824	0.421000	0.26609	0.924000	0.55760	4.903000	0.63272	2.593000	0.87608	0.491000	0.48974	AGA	DNAH5	-	pfam_Dynein_heavy_dom-1	ENSG00000039139		0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	192	0.00	0	C	NM_001369		13919382	13919382	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	113	24.16	36	SNP	0.995	A
DNAH5	1767	genome.wustl.edu	37	5	13944506	13944506	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:13944506G>T	ENST00000265104.4	-	1	146	c.42C>A	c.(40-42)gtC>gtA	p.V14V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	14	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAACTCGAGTGACGCTATGCT	0.468									Kartagener syndrome																													dbGAP											0													169.0	128.0	142.0					5																	13944506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.42C>A	5.37:g.13944506G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.V14	ENST00000265104.4	37	c.42	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	187	0.00	0	G	NM_001369		13944506	13944506	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	149	18.58	34	SNP	1.000	T
DNAH6	1768	genome.wustl.edu	37	2	84752799	84752799	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:84752799A>C	ENST00000237449.6	+	2	344	c.336A>C	c.(334-336)aaA>aaC	p.K112N	DNAH6_ENST00000468661.1_3'UTR|DNAH6_ENST00000398278.2_Missense_Mutation_p.K112N|DNAH6_ENST00000389394.3_Missense_Mutation_p.K112N			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	112	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCATAGCAAAAAAAAGTTTTG	0.328																																						dbGAP											0													106.0	85.0	92.0					2																	84752799		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.336A>C	2.37:g.84752799A>C	ENSP00000237449:p.Lys112Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K112N	ENST00000237449.6	37	c.336	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	9.826	1.187022	0.21870	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26223	1.75;1.92;1.75	5.26	-0.19	0.13256	.	.	.	.	.	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.29761	-1.0001	9	0.31617	T	0.26	.	2.0137	0.03493	0.582:0.1336:0.1554:0.1291	.	112	Q9C0G6	DYH6_HUMAN	N	112	ENSP00000374045:K112N;ENSP00000381326:K112N;ENSP00000237449:K112N	ENSP00000237449:K112N	K	+	3	2	DNAH6	84606310	0.006000	0.16342	0.001000	0.08648	0.021000	0.10359	0.434000	0.21494	-0.013000	0.14199	0.528000	0.53228	AAA	DNAH6	-	NULL	ENSG00000115423		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	180	0.00	0	A	NM_001370		84752799	84752799	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	130	35.64	72	SNP	0.007	C
DNAH6	1768	genome.wustl.edu	37	2	84811296	84811296	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:84811296T>G	ENST00000237449.6	+	14	2411	c.2403T>G	c.(2401-2403)atT>atG	p.I801M	DNAH6_ENST00000398278.2_Missense_Mutation_p.I801M|DNAH6_ENST00000389394.3_Missense_Mutation_p.I801M			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	801	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AATCAAGCATTAAGCAATTTT	0.373																																						dbGAP											0													174.0	162.0	166.0					2																	84811296		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2403T>G	2.37:g.84811296T>G	ENSP00000237449:p.Ile801Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.I801M	ENST00000237449.6	37	c.2403	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	T	12.96	2.092979	0.36952	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26518	1.73;1.84;1.73	5.73	-0.79	0.10932	.	0.163861	0.28790	N	0.014133	T	0.29783	0.0744	L	0.61218	1.895	0.31016	N	0.71865	B;D	0.53462	0.248;0.96	B;P	0.51918	0.103;0.684	T	0.27434	-1.0074	10	0.51188	T	0.08	.	6.0663	0.19866	0.1292:0.4246:0.0:0.4462	.	801;380	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	M	801	ENSP00000374045:I801M;ENSP00000381326:I801M;ENSP00000237449:I801M	ENSP00000237449:I801M	I	+	3	3	DNAH6	84664807	0.996000	0.38824	0.916000	0.36221	0.057000	0.15508	0.099000	0.15210	-0.094000	0.12374	-0.353000	0.07706	ATT	DNAH6	-	NULL	ENSG00000115423		0.373	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	394	0.00	0	T	NM_001370		84811296	84811296	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	211	27.15	79	SNP	0.917	G
DNAH6	1768	genome.wustl.edu	37	2	84846926	84846926	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:84846926T>G	ENST00000237449.6	+	23	3698	c.3690T>G	c.(3688-3690)gcT>gcG	p.A1230A	DNAH6_ENST00000398278.2_Silent_p.A1230A|DNAH6_ENST00000389394.3_Silent_p.A1230A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1230	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCGAATTTGCTCTCATGCCTC	0.443																																						dbGAP											0													95.0	82.0	86.0					2																	84846926		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.3690T>G	2.37:g.84846926T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A1230	ENST00000237449.6	37	c.3690	CCDS46348.1	2																																																																																			DNAH6	-	pfam_Dynein_heavy_dom-2	ENSG00000115423		0.443	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	213	0.00	0	T	NM_001370		84846926	84846926	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	silent	147	11.38	19	SNP	0.016	G
DNAH6	1768	genome.wustl.edu	37	2	85011917	85011917	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:85011917C>A	ENST00000237449.6	+	65	10944	c.10936C>A	c.(10936-10938)Ctt>Att	p.L3646I	DNAH6_ENST00000389394.3_Missense_Mutation_p.L3646I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3646	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTTACAGTTCTTCAAAATTC	0.368																																						dbGAP											0													216.0	180.0	191.0					2																	85011917		692	1591	2283	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.10936C>A	2.37:g.85011917C>A	ENSP00000237449:p.Leu3646Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3646I	ENST00000237449.6	37	c.10936	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958773	0.74016	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.20598	2.06;2.06	5.72	5.72	0.89469	Dynein heavy chain (1);	0.000000	0.64402	D	0.000008	T	0.59998	0.2235	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.71217	-0.4658	10	0.87932	D	0	.	17.3867	0.87418	0.0:1.0:0.0:0.0	.	3646;405	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	I	3646	ENSP00000374045:L3646I;ENSP00000237449:L3646I	ENSP00000237449:L3646I	L	+	1	0	DNAH6	84865428	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.575000	0.60908	2.702000	0.92279	0.462000	0.41574	CTT	DNAH6	-	pfam_Dynein_heavy	ENSG00000115423		0.368	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	655	0.00	0	C	NM_001370		85011917	85011917	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	465	12.92	69	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196673492	196673492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:196673492G>A	ENST00000312428.6	-	53	10097	c.9997C>T	c.(9997-9999)Cga>Tga	p.R3333*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3333					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATCTAATCGACATATTTCA	0.408																																						dbGAP											0													128.0	119.0	122.0					2																	196673492		1879	4107	5986	-	-	-	SO:0001587	stop_gained	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9997C>T	2.37:g.196673492G>A	ENSP00000311273:p.Arg3333*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.R3333*	ENST00000312428.6	37	c.9997	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	52	18.858703	0.99911	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.65	3.78	0.43462	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3216	0.66489	0.0:0.0:0.7288:0.2711	.	.	.	.	X	3333	.	ENSP00000311273:R3333X	R	-	1	2	DNAH7	196381737	1.000000	0.71417	0.850000	0.33497	0.992000	0.81027	4.138000	0.58017	0.673000	0.31224	0.563000	0.77884	CGA	DNAH7	-	pfam_Dynein_heavy	ENSG00000118997		0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	247	0.00	0	G	NM_018897		196673492	196673492	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	nonsense	220	11.29	28	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196825151	196825151	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:196825151C>A	ENST00000312428.6	-	18	2824	c.2724G>T	c.(2722-2724)atG>atT	p.M908I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	908	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTCAGTAATCATCTTCTCCA	0.368																																						dbGAP											0													131.0	129.0	130.0					2																	196825151		1887	4111	5998	-	-	-	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2724G>T	2.37:g.196825151C>A	ENSP00000311273:p.Met908Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.M908I	ENST00000312428.6	37	c.2724	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087394	0.76642	.	.	ENSG00000118997	ENST00000312428	T	0.58652	0.32	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74006	-0.3803	10	0.39692	T	0.17	.	19.7123	0.96100	0.0:1.0:0.0:0.0	.	908	Q8WXX0	DYH7_HUMAN	I	908	ENSP00000311273:M908I	ENSP00000311273:M908I	M	-	3	0	DNAH7	196533396	1.000000	0.71417	0.998000	0.56505	0.502000	0.33828	6.095000	0.71439	2.661000	0.90470	0.585000	0.79938	ATG	DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	152	0.00	0	C	NM_018897		196825151	196825151	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	missense	75	27.88	29	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196834764	196834764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:196834764C>A	ENST00000312428.6	-	17	2213	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	705	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATAAAATTCTTCTGATTGC	0.338																																						dbGAP											0													90.0	85.0	86.0					2																	196834764		1835	4074	5909	-	-	-	SO:0001587	stop_gained	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2113G>T	2.37:g.196834764C>A	ENSP00000311273:p.Glu705*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.E705*	ENST00000312428.6	37	c.2113	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.677470	0.97755	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.51	5.51	0.81932	.	0.058793	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	19.3732	0.94498	0.0:1.0:0.0:0.0	.	.	.	.	X	705	.	ENSP00000311273:E705X	E	-	1	0	DNAH7	196543009	1.000000	0.71417	0.985000	0.45067	0.174000	0.22865	5.282000	0.65615	2.759000	0.94783	0.591000	0.81541	GAA	DNAH7	-	NULL	ENSG00000118997		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	213	0.00	0	C	NM_018897		196834764	196834764	-1	no_errors	ENST00000312428	ensembl	human	known	69_37n	nonsense	154	10.47	18	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38825467	38825467	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:38825467C>T	ENST00000359357.3	+	40	5510	c.5256C>T	c.(5254-5256)ttC>ttT	p.F1752F	DNAH8_ENST00000449981.2_Silent_p.F1969F|DNAH8_ENST00000441566.1_Silent_p.F1752F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1752					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGTGAAGTTCGAGACTCTAA	0.323																																						dbGAP											0													123.0	119.0	121.0					6																	38825467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5256C>T	6.37:g.38825467C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F1752	ENST00000359357.3	37	c.5256		6																																																																																			DNAH8	-	NULL	ENSG00000124721		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	480	0.00	0	C	NM_001206927		38825467	38825467	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	silent	329	12.27	46	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38867567	38867567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:38867567C>T	ENST00000359357.3	+	60	8682	c.8428C>T	c.(8428-8430)Cga>Tga	p.R2810*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R3027*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2774*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2810	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACGAATAATTCGAACGTCGTG	0.368																																						dbGAP											0													128.0	119.0	122.0					6																	38867567		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8428C>T	6.37:g.38867567C>T	ENSP00000352312:p.Arg2810*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R2810*	ENST00000359357.3	37	c.8428		6	.	.	.	.	.	.	.	.	.	.	C	52	19.110937	0.99915	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	6.07	6.07	0.98685	.	0.064968	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	3015;3015;2810;2774	.	ENSP00000333363:R3015X	R	+	1	2	DNAH8	38975545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.973000	0.49264	2.884000	0.98904	0.655000	0.94253	CGA	DNAH8	-	NULL	ENSG00000124721		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	568	0.00	0	C	NM_001206927		38867567	38867567	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	nonsense	372	27.88	145	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38891852	38891852	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:38891852G>T	ENST00000359357.3	+	71	10479	c.10225G>T	c.(10225-10227)Gat>Tat	p.D3409Y	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3626Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3373Y|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3409					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGCTTAAAGATCAATGGGA	0.383																																						dbGAP											0													156.0	158.0	157.0					6																	38891852		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10225G>T	6.37:g.38891852G>T	ENSP00000352312:p.Asp3409Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D3409Y	ENST00000359357.3	37	c.10225		6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268170	0.80469	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.74421	-0.84;-0.84;-0.84	6.06	6.06	0.98353	Dynein heavy chain, coiled coil stalk (1);	0.427195	0.24476	N	0.038195	D	0.84710	0.5532	M	0.81497	2.545	0.54753	D	0.999988	D	0.58620	0.983	P	0.60886	0.88	D	0.85029	0.0916	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3409	Q96JB1	DYH8_HUMAN	Y	3614;3614;3409;3373	ENSP00000333363:D3614Y;ENSP00000352312:D3409Y;ENSP00000402294:D3373Y	ENSP00000333363:D3614Y	D	+	1	0	DNAH8	38999830	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	7.167000	0.77562	2.882000	0.98803	0.655000	0.94253	GAT	DNAH8	-	NULL	ENSG00000124721		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	1273	0.00	0	G	NM_001206927		38891852	38891852	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	missense	849	25.07	284	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38905788	38905788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:38905788C>T	ENST00000359357.3	+	76	11205	c.10951C>T	c.(10951-10953)Cga>Tga	p.R3651*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R3868*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R3615*|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3651	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGGTGTACTTCGAACTACCAA	0.473																																						dbGAP											0													105.0	97.0	100.0					6																	38905788		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10951C>T	6.37:g.38905788C>T	ENSP00000352312:p.Arg3651*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3651*	ENST00000359357.3	37	c.10951		6	.	.	.	.	.	.	.	.	.	.	C	52	19.368035	0.99918	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.13	2.09	0.27110	.	0.292482	0.30260	N	0.010032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	14.7636	0.69621	0.5596:0.4404:0.0:0.0	.	.	.	.	X	3856;3856;3651;3615	.	ENSP00000333363:R3856X	R	+	1	2	DNAH8	39013766	0.068000	0.21057	0.933000	0.37362	0.356000	0.29392	0.615000	0.24329	0.607000	0.29982	0.655000	0.94253	CGA	DNAH8	-	NULL	ENSG00000124721		0.473	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	109	0.00	0	C	NM_001206927		38905788	38905788	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	nonsense	122	10.95	15	SNP	0.018	T
DNAH9	1770	genome.wustl.edu	37	17	11757715	11757715	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:11757715G>T	ENST00000262442.4	+	50	9971	c.9903G>T	c.(9901-9903)gaG>gaT	p.E3301D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3301D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3301	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCCCAGGAGAAGCTGGCTG	0.547																																						dbGAP											0													42.0	44.0	43.0					17																	11757715		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9903G>T	17.37:g.11757715G>T	ENSP00000262442:p.Glu3301Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E3301D	ENST00000262442.4	37	c.9903	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350556	0.24512	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75367	-0.93;-0.93	5.44	3.35	0.38373	Dynein heavy chain, coiled coil stalk (1);	0.335650	0.32819	N	0.005604	T	0.54759	0.1878	L	0.28054	0.825	0.80722	D	1	B	0.14012	0.009	B	0.25405	0.06	T	0.42447	-0.9451	10	0.15499	T	0.54	.	3.6057	0.08042	0.3139:0.2154:0.4707:0.0	.	3301	Q9NYC9	DYH9_HUMAN	D	3301;3301;1883	ENSP00000262442:E3301D;ENSP00000414874:E3301D	ENSP00000262442:E3301D	E	+	3	2	DNAH9	11698440	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.074000	0.30703	1.532000	0.49169	0.655000	0.94253	GAG	DNAH9	-	NULL	ENSG00000007174		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	178	0.00	0	G	NM_001372		11757715	11757715	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	83	17.82	18	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11784683	11784683	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:11784683C>A	ENST00000262442.4	+	55	10827	c.10759C>A	c.(10759-10761)Ctg>Atg	p.L3587M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L3587M|DNAH9_ENST00000608377.1_5'Flank	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3587	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCAGTTGCTGGCCGCTGT	0.582																																						dbGAP											0													54.0	48.0	50.0					17																	11784683		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10759C>A	17.37:g.11784683C>A	ENSP00000262442:p.Leu3587Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L3587M	ENST00000262442.4	37	c.10759	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858601	0.71834	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.34859	1.34;1.34	5.06	1.98	0.26296	.	0.164914	0.41712	D	0.000830	T	0.70605	0.3243	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76777	-0.2834	10	0.87932	D	0	.	10.5537	0.45103	0.0:0.7904:0.0:0.2096	.	3587	Q9NYC9	DYH9_HUMAN	M	3587;3587;2169	ENSP00000262442:L3587M;ENSP00000414874:L3587M	ENSP00000262442:L3587M	L	+	1	2	DNAH9	11725408	0.998000	0.40836	1.000000	0.80357	0.867000	0.49689	0.645000	0.24782	0.394000	0.25230	0.655000	0.94253	CTG	DNAH9	-	NULL	ENSG00000007174		0.582	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	50	0.00	0	C	NM_001372		11784683	11784683	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	33	35.85	19	SNP	1.000	A
DNAJB5	25822	genome.wustl.edu	37	9	34990775	34990775	+	5'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:34990775C>T	ENST00000541010.1	+	0	557				DNAJB5_ENST00000545841.1_Intron|DNAJB5_ENST00000335998.3_Nonsense_Mutation_p.R12*|DNAJB5_ENST00000312316.5_Intron|DNAJB5_ENST00000453597.3_Nonsense_Mutation_p.R92*|DNAJB5_ENST00000454002.2_Nonsense_Mutation_p.R50*			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTTAAAACTTCGAGCGTGGAC	0.547																																						dbGAP											0													55.0	54.0	55.0					9																	34990775		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.-2456C>T	9.37:g.34990775C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Nonsense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R50*	ENST00000541010.1	37	c.148	CCDS35007.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.640699	0.97726	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000454002	.	.	.	4.59	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4313	0.38612	0.3164:0.6836:0.0:0.0	.	.	.	.	X	92;12;50	.	ENSP00000337626:R12X	R	+	1	2	DNAJB5	34980775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.643000	0.37217	2.102000	0.63906	0.561000	0.74099	CGA	DNAJB5	-	NULL	ENSG00000137094		0.547	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DNAJB5	HGNC	protein_coding	OTTHUMT00000401397.1	105	0.00	0	C			34990775	34990775	+1	no_errors	ENST00000454002	ensembl	human	known	69_37n	nonsense	68	13.92	11	SNP	1.000	T
DNAJB7	150353	genome.wustl.edu	37	22	41257857	41257857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:41257857C>A	ENST00000307221.4	-	1	273	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	48	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.						chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TCAGCTACTTCTTTGAATTTT	0.358																																						dbGAP											0													207.0	200.0	202.0					22																	41257857		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.142G>T	22.37:g.41257857C>A	ENSP00000307197:p.Glu48*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M220|Q5H904|Q8WYJ7	Nonsense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ConA-like_lec_gl,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E48*	ENST00000307221.4	37	c.142	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822029	0.90873	.	.	ENSG00000172404	ENST00000307221	.	.	.	4.7	2.54	0.30619	.	0.349433	0.22902	N	0.054248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.2019	0.59774	0.0:0.6955:0.3045:0.0	.	.	.	.	X	48	.	ENSP00000307197:E48X	E	-	1	0	DNAJB7	39587803	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.816000	0.48026	0.866000	0.35629	0.591000	0.81541	GAA	DNAJB7	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	ENSG00000172404		0.358	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1	275	0.00	0	C	NM_145174		41257857	41257857	-1	no_errors	ENST00000307221	ensembl	human	known	69_37n	nonsense	234	12.64	34	SNP	1.000	A
DNAJB9	4189	genome.wustl.edu	37	7	108213486	108213486	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:108213486G>T	ENST00000249356.3	+	3	907	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	121					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	misfolded protein binding (GO:0051787)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						CTTATTTAAAGACTTTGGCTT	0.388																																						dbGAP											0													93.0	89.0	91.0					7																	108213486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026908	CCDS5752.1	7q31	2011-09-02			ENSG00000128590	ENSG00000128590		"""Heat shock proteins / DNAJ (HSP40)"""	6968	protein-coding gene	gene with protein product		602634		MDG1		9533036, 11147971	Standard	NM_012328		Approved		uc003vfn.3	Q9UBS3	OTTHUMG00000154866	ENST00000249356.3:c.361G>T	7.37:g.108213486G>T	ENSP00000249356:p.Asp121Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D121Y	ENST00000249356.3	37	c.361	CCDS5752.1	7	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733842	0.69189	.	.	ENSG00000128590	ENST00000249356	T	0.72615	-0.67	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.81035	-0.1115	9	.	.	.	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	121	Q9UBS3	DNJB9_HUMAN	Y	121	ENSP00000249356:D121Y	.	D	+	1	0	DNAJB9	108000722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.776000	0.95493	0.655000	0.94253	GAC	DNAJB9	-	NULL	ENSG00000128590		0.388	DNAJB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB9	HGNC	protein_coding	OTTHUMT00000337414.1	153	0.00	0	G			108213486	108213486	+1	no_errors	ENST00000249356	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	1.000	T
DNAJC13	23317	genome.wustl.edu	37	3	132193831	132193831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:132193831G>T	ENST00000260818.6	+	22	2595	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	783					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACACGAGAAGAACTGAAAGA	0.383																																						dbGAP											0													107.0	112.0	110.0					3																	132193831		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2347G>T	3.37:g.132193831G>T	ENSP00000260818:p.Glu783*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Nonsense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.E783*	ENST00000260818.6	37	c.2347	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.191783	0.99355	.	.	ENSG00000138246	ENST00000260818	.	.	.	5.68	4.81	0.61882	.	0.121103	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1936	0.65654	0.0712:0.0:0.9288:0.0	.	.	.	.	X	783	.	ENSP00000260818:E783X	E	+	1	0	DNAJC13	133676521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	1.413000	0.46997	0.650000	0.86243	GAA	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.383	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	131	0.00	0	G	NM_015268		132193831	132193831	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	nonsense	92	13.21	14	SNP	1.000	T
DNAJC13	23317	genome.wustl.edu	37	3	132247154	132247154	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:132247154G>A	ENST00000260818.6	+	54	6751	c.6503G>A	c.(6502-6504)cGa>cAa	p.R2168Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2168					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCAATGACTCGAAGTTTGCAG	0.463																																						dbGAP											0													87.0	88.0	88.0					3																	132247154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6503G>A	3.37:g.132247154G>A	ENSP00000260818:p.Arg2168Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.R2168Q	ENST00000260818.6	37	c.6503	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255113	0.80135	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.17054	2.3	5.45	4.58	0.56647	Armadillo-like helical (1);	0.194287	0.45867	N	0.000321	T	0.12646	0.0307	L	0.50333	1.59	0.51767	D	0.999938	P	0.52842	0.956	B	0.31016	0.123	T	0.12192	-1.0557	10	0.23891	T	0.37	.	14.0588	0.64786	0.0726:0.0:0.9274:0.0	.	2168	O75165	DJC13_HUMAN	Q	2168;815	ENSP00000260818:R2168Q	ENSP00000260818:R2168Q	R	+	2	0	DNAJC13	133729844	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.500000	0.81588	1.311000	0.45024	0.467000	0.42956	CGA	DNAJC13	-	NULL	ENSG00000138246		0.463	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	261	0.00	0	G	NM_015268		132247154	132247154	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	131	28.80	53	SNP	1.000	A
DNAJC16	23341	genome.wustl.edu	37	1	15892680	15892680	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:15892680C>A	ENST00000375847.3	+	13	1942				RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375838.1_Missense_Mutation_p.L595I|DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16						cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGCAGGTTTCTCTAACAAAA	0.488																																						dbGAP											0													60.0	65.0	63.0					1																	15892680		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1778+5C>A	1.37:g.15892680C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Thioredoxin_domain,superfamily_DnaJ_N,superfamily_Thioredoxin-like_fold,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L595I	ENST00000375847.3	37	c.1783	CCDS30606.1	1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871417	0.51695	.	.	ENSG00000116138	ENST00000375838;ENST00000546230	T	0.71461	-0.57	5.49	-2.2	0.06994	.	.	.	.	.	T	0.47507	0.1449	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21008	-1.0258	7	.	.	.	.	5.0241	0.14376	0.0:0.3695:0.2597:0.3708	.	595	Q5TDG9	.	I	595	ENSP00000364998:L595I	.	L	+	1	0	DNAJC16	15765267	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	0.365000	0.20348	-0.617000	0.05664	0.563000	0.77884	CTC	DNAJC16	-	NULL	ENSG00000116138		0.488	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	163	0.00	0	C	NM_015291		15892680	15892680	+1	no_errors	ENST00000375838	ensembl	human	known	69_37n	missense	104	14.75	18	SNP	0.000	A
DNAJC19	131118	genome.wustl.edu	37	3	180703743	180703743	+	Missense_Mutation	SNP	C	C	T	rs199774384		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:180703743C>T	ENST00000382564.2	-	5	421	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	DNAJC19_ENST00000491873.1_Missense_Mutation_p.R59Q|DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.R59Q	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	84	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AAGCATAATTCGTCGATGAGC	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		18657	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													137.0	125.0	130.0					3																	180703743		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.251G>A	3.37:g.180703743C>T	ENSP00000372005:p.Arg84Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4B1|C9JBV1	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	p.R84Q	ENST00000382564.2	37	c.251	CCDS33895.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.98	2.993228	0.54041	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.33654	1.4;1.4;1.4	5.87	4.07	0.47477	Heat shock protein DnaJ, N-terminal (5);	0.124753	0.56097	D	0.000038	T	0.19846	0.0477	N	0.12831	0.26	0.41632	D	0.989025	B	0.19331	0.035	B	0.15052	0.012	T	0.04678	-1.0934	10	0.30854	T	0.27	-16.7485	9.8069	0.40799	0.1387:0.791:0.0:0.0704	.	84	Q96DA6	TIM14_HUMAN	Q	84;59;59	ENSP00000372005:R84Q;ENSP00000420767:R59Q;ENSP00000419191:R59Q	ENSP00000372005:R84Q	R	-	2	0	DNAJC19	182186437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.479000	0.60236	0.801000	0.34066	0.650000	0.86243	CGA	DNAJC19	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N	ENSG00000205981		0.323	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC19	HGNC	protein_coding	OTTHUMT00000350336.1	281	0.00	0	C	NM_145261		180703743	180703743	-1	no_errors	ENST00000382564	ensembl	human	known	69_37n	missense	188	14.55	32	SNP	1.000	T
DNAJC3	5611	genome.wustl.edu	37	13	96412328	96412328	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:96412328G>A	ENST00000602402.1	+	6	698	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	DNAJC3_ENST00000376795.6_Missense_Mutation_p.R143Q	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	194					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)	p.R194Q(1)		NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGGAACTTCGAGCTGAATGT	0.348																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											112.0	112.0	112.0					13																	96412328		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.581G>A	13.37:g.96412328G>A	ENSP00000473631:p.Arg194Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR-1,pfam_DnaJ_N,smart_TPR_repeat,smart_DnaJ_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R194Q	ENST00000602402.1	37	c.581	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.499376	0.96355	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89562	0.3807	9	0.87932	D	0	-3.6208	19.5168	0.95168	0.0:0.0:1.0:0.0	.	194;194	A8KA82;Q13217	.;DNJC3_HUMAN	Q	194	.	ENSP00000365991:R194Q	R	+	2	0	DNAJC3	95210329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.171000	0.94802	2.609000	0.88269	0.561000	0.74099	CGA	DNAJC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000102580		0.348	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	403	0.00	0	G			96412328	96412328	+1	no_errors	ENST00000376795	ensembl	human	known	69_37n	missense	299	26.29	107	SNP	1.000	A
DNAJC8	22826	genome.wustl.edu	37	1	28541480	28541480	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:28541480C>A	ENST00000263697.4	-	3	234	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	70	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTCTTCATCTGTAACTTCA	0.308																																						dbGAP											0													47.0	44.0	45.0					1																	28541480		1793	4061	5854	-	-	-	SO:0001583	missense	0			AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.208G>T	1.37:g.28541480C>A	ENSP00000263697:p.Asp70Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.D70Y	ENST00000263697.4	37	c.208	CCDS41292.1	1	.	.	.	.	.	.	.	.	.	.	C	8.660	0.900233	0.17686	.	.	ENSG00000126698	ENST00000263697	T	0.33216	1.42	5.09	5.09	0.68999	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.51914	1.62	0.80722	D	1	B	0.27264	0.173	B	0.37144	0.242	T	0.27020	-1.0086	10	0.52906	T	0.07	-5.0003	18.8701	0.92309	0.0:1.0:0.0:0.0	.	70	O75937	DNJC8_HUMAN	Y	70	ENSP00000263697:D70Y	ENSP00000263697:D70Y	D	-	1	0	DNAJC8	28414067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.565000	0.73974	2.529000	0.85273	0.655000	0.94253	GAT	DNAJC8	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	ENSG00000126698		0.308	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC8	HGNC	protein_coding	OTTHUMT00000009860.1	92	0.00	0	C	NM_014280		28541480	28541480	-1	no_errors	ENST00000263697	ensembl	human	known	69_37n	missense	59	18.06	13	SNP	1.000	A
DNAJC9	23234	genome.wustl.edu	37	10	75006531	75006531	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:75006531T>C	ENST00000372950.4	-	2	1908	c.236A>G	c.(235-237)gAt>gGt	p.D79G	MRPS16_ENST00000479005.1_5'Flank|DNAJC9-AS1_ENST00000513954.1_RNA|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_3'UTR	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	79	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TCCCTGCTCATCGTACACTGC	0.527																																						dbGAP											0													96.0	86.0	90.0					10																	75006531		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.236A>G	10.37:g.75006531T>C	ENSP00000362041:p.Asp79Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMW6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.D79G	ENST00000372950.4	37	c.236	CCDS7322.1	10	.	.	.	.	.	.	.	.	.	.	T	35	5.551878	0.96501	.	.	ENSG00000213551	ENST00000372950	D	0.82711	-1.64	5.49	5.49	0.81192	Heat shock protein DnaJ, N-terminal (4);	0.044283	0.85682	D	0.000000	D	0.94118	0.8114	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95781	0.8817	10	0.87932	D	0	.	13.5326	0.61631	0.0:0.0:0.0:1.0	.	79	Q8WXX5	DNJC9_HUMAN	G	79	ENSP00000362041:D79G	ENSP00000362041:D79G	D	-	2	0	DNAJC9	74676537	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.988000	0.88194	2.088000	0.63022	0.482000	0.46254	GAT	DNAJC9	-	pfam_DnaJ_N,superfamily_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	ENSG00000213551		0.527	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC9	HGNC	protein_coding	OTTHUMT00000048643.1	159	0.00	0	T	NM_015190		75006531	75006531	-1	no_errors	ENST00000372950	ensembl	human	known	69_37n	missense	70	19.54	17	SNP	1.000	C
DNHD1	144132	genome.wustl.edu	37	11	6585252	6585252	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6585252C>T	ENST00000527990.2	+	29	10182	c.10182C>T	c.(10180-10182)tgC>tgT	p.C3394C	DNHD1_ENST00000254579.6_Silent_p.C3394C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3394					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.C3394C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCACAACTGCGTGGCAAAGA	0.582																																						dbGAP											2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											59.0	58.0	58.0					11																	6585252		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.10182C>T	11.37:g.6585252C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.C3394	ENST00000527990.2	37	c.10182	CCDS44532.1	11																																																																																			DNHD1	-	NULL	ENSG00000179532		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	72	0.00	0	C	NM_144666		6585252	6585252	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	silent	55	19.12	13	SNP	0.000	T
DNHD1	144132	genome.wustl.edu	37	11	6587873	6587873	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6587873G>T	ENST00000527990.2	+	33	11263	c.11263G>T	c.(11263-11265)Gaa>Taa	p.E3755*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.E3755*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3755					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTGAACATGGAAATACTGGA	0.498																																						dbGAP											0													98.0	98.0	98.0					11																	6587873		1984	4188	6172	-	-	-	SO:0001587	stop_gained	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11263G>T	11.37:g.6587873G>T	ENSP00000436180:p.Glu3755*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.E3755*	ENST00000527990.2	37	c.11263	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	55	24.037145	0.99958	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	.	.	.	4.62	4.62	0.57501	.	0.458295	0.18215	N	0.148074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-1.733	8.8706	0.35314	0.0998:0.0:0.9002:0.0	.	.	.	.	X	3755;3755;23;23	.	ENSP00000254579:E3755X	E	+	1	0	DNHD1	6544449	0.811000	0.29063	0.496000	0.27539	0.992000	0.81027	1.577000	0.36515	2.553000	0.86117	0.655000	0.94253	GAA	DNHD1	-	NULL	ENSG00000179532		0.498	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	200	0.00	0	G	NM_144666		6587873	6587873	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	nonsense	128	13.51	20	SNP	0.161	T
DNM3	26052	genome.wustl.edu	37	1	172356384	172356384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:172356384C>T	ENST00000355305.5	+	19	2345	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	DNM3_ENST00000367731.1_Nonsense_Mutation_p.R720*|DNM3_ENST00000358155.4_Nonsense_Mutation_p.R724*			Q9UQ16	DYN3_HUMAN	dynamin 3	730	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGAGATGCTTCGAATGTATCA	0.527																																						dbGAP											0													69.0	73.0	71.0					1																	172356384		1999	4173	6172	-	-	-	SO:0001587	stop_gained	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2188C>T	1.37:g.172356384C>T	ENSP00000347457:p.Arg730*	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonsense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.R724*	ENST00000355305.5	37	c.2170		1	.	.	.	.	.	.	.	.	.	.	C	41	9.060816	0.99051	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	.	.	.	5.43	5.43	0.79202	.	0.229608	0.35291	N	0.003308	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1579	0.89700	0.0:1.0:0.0:0.0	.	.	.	.	X	734;724;730;720;93	.	ENSP00000347457:R730X	R	+	1	2	DNM3	170623007	0.958000	0.32768	0.203000	0.23512	0.853000	0.48598	2.556000	0.45862	2.717000	0.92951	0.585000	0.79938	CGA	DNM3	-	pfam_GED,smart_GED	ENSG00000197959		0.527	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	59	0.00	0	C	NM_015569		172356384	172356384	+1	no_errors	ENST00000358155	ensembl	human	known	69_37n	nonsense	50	13.79	8	SNP	0.940	T
DNMBP	23268	genome.wustl.edu	37	10	101643877	101643877	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:101643877G>T	ENST00000324109.4	-	15	3979	c.3888C>A	c.(3886-3888)ttC>ttA	p.F1296L	DNMBP_ENST00000540316.1_Missense_Mutation_p.F232L|DNMBP_ENST00000472036.1_5'Flank|DNMBP_ENST00000342239.3_Missense_Mutation_p.F1320L|DNMBP_ENST00000543621.1_Missense_Mutation_p.F542L	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1296	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GAGCAGCATTGAAGTTCCGTT	0.512																																						dbGAP											0													87.0	86.0	86.0					10																	101643877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3888C>A	10.37:g.101643877G>T	ENSP00000315659:p.Phe1296Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,prints_p67phox,prints_Spectrin_alpha_SH3,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.F1320L	ENST00000324109.4	37	c.3960	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983154	0.74474	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.95	5.05	0.67936	Src homology-3 domain (2);	0.000000	0.50627	D	0.000102	T	0.75598	0.3871	L	0.36672	1.1	0.50467	D	0.999876	D;D;D	0.69078	0.993;0.996;0.997	P;P;P	0.59171	0.804;0.834;0.853	T	0.74996	-0.3473	10	0.40728	T	0.16	-18.37	11.1369	0.48378	0.1419:0.0:0.8581:0.0	.	1296;542;1320	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	L	1320;1296;542;542;232	ENSP00000344914:F1320L;ENSP00000315659:F1296L;ENSP00000443657:F542L;ENSP00000443573:F232L	ENSP00000315659:F1296L	F	-	3	2	DNMBP	101633867	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.049000	0.57397	1.533000	0.49186	-0.137000	0.14449	TTC	DNMBP	-	superfamily_SH3_domain,smart_SH3_domain	ENSG00000107554		0.512	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	282	0.00	0	G	NM_015221		101643877	101643877	-1	no_errors	ENST00000342239	ensembl	human	known	69_37n	missense	142	30.39	62	SNP	1.000	T
DNMT1	1786	genome.wustl.edu	37	19	10257157	10257157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:10257157C>A	ENST00000340748.4	-	27	2951	c.2716G>T	c.(2716-2718)Gaa>Taa	p.E906*	DNMT1_ENST00000540357.1_Nonsense_Mutation_p.E906*|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000359526.4_Nonsense_Mutation_p.E922*			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	906					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTGGGGATTTCTTTTTGCCTC	0.567																																						dbGAP											0													63.0	62.0	62.0					19																	10257157		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2716G>T	19.37:g.10257157C>A	ENSP00000345739:p.Glu906*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Nonsense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.E922*	ENST00000340748.4	37	c.2764	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	C	42	9.709839	0.99244	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	.	.	.	5.73	5.73	0.89815	.	0.116681	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-34.4202	18.6681	0.91499	0.0:1.0:0.0:0.0	.	.	.	.	X	922;906;906;774	.	ENSP00000345739:E906X	E	-	1	0	DNMT1	10118157	1.000000	0.71417	0.530000	0.27963	0.998000	0.95712	5.731000	0.68554	2.700000	0.92200	0.655000	0.94253	GAA	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk	ENSG00000130816		0.567	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	56	0.00	0	C	NM_001379		10257157	10257157	-1	no_errors	ENST00000359526	ensembl	human	known	69_37n	nonsense	24	14.29	4	SNP	0.996	A
DNMT3B	1789	genome.wustl.edu	37	20	31372576	31372576	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:31372576G>A	ENST00000328111.2	+	4	538	c.217G>A	c.(217-219)Gat>Aat	p.D73N	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.D73N|DNMT3B_ENST00000344505.4_Missense_Mutation_p.D73N|DNMT3B_ENST00000375623.4_Missense_Mutation_p.D73N|DNMT3B_ENST00000353855.2_Missense_Mutation_p.D73N|DNMT3B_ENST00000443239.3_Missense_Mutation_p.D73N|DNMT3B_ENST00000201963.3_Missense_Mutation_p.D85N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	73	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGACAGGCGATGGCGACGG	0.498																																						dbGAP											0													77.0	66.0	70.0					20																	31372576		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.217G>A	20.37:g.31372576G>A	ENSP00000328547:p.Asp73Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.D73N	ENST00000328111.2	37	c.217	CCDS13205.1	20	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550894	0.45383	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;T;D	0.97888	-4.56;-4.58;-4.54;-4.5;-4.42;-0.4;-4.59	4.88	3.94	0.45596	.	0.345616	0.25978	N	0.027086	D	0.91938	0.7447	N	0.24115	0.695	0.23468	N	0.997611	P;P;P;P;B	0.49358	0.765;0.72;0.923;0.474;0.084	B;B;B;B;B	0.36289	0.05;0.07;0.221;0.051;0.009	D	0.85736	0.1334	10	0.16420	T	0.52	-15.1007	9.4773	0.38880	0.0965:0.0:0.9035:0.0	.	73;85;73;73;73	E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;DNM3B_HUMAN	N	73;159;73;73;73;73;73;85	ENSP00000328547:D73N;ENSP00000313397:D73N;ENSP00000337764:D73N;ENSP00000403169:D73N;ENSP00000345105:D73N;ENSP00000364774:D73N;ENSP00000201963:D85N	ENSP00000201963:D85N	D	+	1	0	DNMT3B	30836237	0.070000	0.21116	0.359000	0.25824	0.226000	0.24999	1.219000	0.32479	1.414000	0.47017	-0.137000	0.14449	GAT	DNMT3B	-	NULL	ENSG00000088305		0.498	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2	193	0.00	0	G	NM_006892		31372576	31372576	+1	no_errors	ENST00000328111	ensembl	human	known	69_37n	missense	138	22.03	39	SNP	0.544	A
DNTT	1791	genome.wustl.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:98084132G>A	ENST00000371174.2	+	6	962	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_ENST00000419175.1_Missense_Mutation_p.R287Q			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	287	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453																																						dbGAP											0													106.0	102.0	103.0					10																	98084132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.860G>A	10.37:g.98084132G>A	ENSP00000360216:p.Arg287Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.R287Q	ENST00000371174.2	37	c.860	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	6.199	0.404895	0.11754	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.45276	0.9;0.9	4.69	-7.24	0.01475	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	1.469460	0.03710	N	0.250072	T	0.26484	0.0647	L	0.28556	0.865	0.09310	N	1	B;B	0.21753	0.049;0.06	B;B	0.17098	0.01;0.017	T	0.23511	-1.0186	10	0.10377	T	0.69	-10.9344	11.1001	0.48168	0.7323:0.1044:0.1633:0.0	.	287;287	P04053-2;P04053	.;TDT_HUMAN	Q	287	ENSP00000401169:R287Q;ENSP00000360216:R287Q	ENSP00000360216:R287Q	R	+	2	0	DNTT	98074122	0.002000	0.14202	0.001000	0.08648	0.950000	0.60333	-0.421000	0.07053	-1.610000	0.01583	0.655000	0.94253	CGA	DNTT	-	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase	ENSG00000107447		0.453	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	238	0.00	0	G	NM_004088		98084132	98084132	+1	no_errors	ENST00000371174	ensembl	human	known	69_37n	missense	159	16.23	31	SNP	0.001	A
DNTTIP2	30836	genome.wustl.edu	37	1	94336281	94336281	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94336281C>A	ENST00000436063.2	-	6	2192	c.2135G>T	c.(2134-2136)aGa>aTa	p.R712I		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACAATAGTTCTTTTCCTTTG	0.318																																						dbGAP											0													76.0	68.0	71.0					1																	94336281		1843	4069	5912	-	-	-	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2135G>T	1.37:g.94336281C>A	ENSP00000411010:p.Arg712Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.R712I	ENST00000436063.2	37	c.2135	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967872	0.74131	.	.	ENSG00000067334	ENST00000436063	T	0.43294	0.95	5.8	1.86	0.25419	Fcf2 pre-rRNA processing (1);	0.209202	0.47093	D	0.000249	T	0.48205	0.1487	M	0.78801	2.425	0.51482	D	0.999922	D	0.67145	0.996	D	0.64595	0.927	T	0.52975	-0.8503	10	0.66056	D	0.02	.	10.2502	0.43364	0.0:0.5993:0.0:0.4007	.	712	Q5QJE6	TDIF2_HUMAN	I	712	ENSP00000411010:R712I	ENSP00000411010:R712I	R	-	2	0	DNTTIP2	94108869	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	1.178000	0.31981	0.085000	0.17107	0.563000	0.77884	AGA	DNTTIP2	-	pfam_Fcf2	ENSG00000067334		0.318	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	310	0.00	0	C	NM_014597		94336281	94336281	-1	no_errors	ENST00000436063	ensembl	human	known	69_37n	missense	131	17.09	27	SNP	0.998	A
DOCK1	1793	genome.wustl.edu	37	10	128859962	128859962	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:128859962C>T	ENST00000280333.6	+	23	2413	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	768					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGCTGACTTCGTGGAATCTT	0.498																																						dbGAP											0													53.0	55.0	55.0					10																	128859962		1927	4143	6070	-	-	-	SO:0001819	synonymous_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2304C>T	10.37:g.128859962C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z5	Silent	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.F768	ENST00000280333.6	37	c.2304		10																																																																																			DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.498	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	253	0.00	0	C	NM_001380		128859962	128859962	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	silent	155	13.89	25	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	128908585	128908585	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:128908585G>A	ENST00000280333.6	+	25	2636	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	843					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E843K(2)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTGCTTGATCGAAATCGTCCA	0.418																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											86.0	81.0	82.0					10																	128908585		1924	4148	6072	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2527G>A	10.37:g.128908585G>A	ENSP00000280333:p.Glu843Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.E843K	ENST00000280333.6	37	c.2527		10	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650665	0.29336	.	.	ENSG00000150760	ENST00000280333	T	0.29655	1.56	4.87	4.87	0.63330	.	0.062753	0.64402	D	0.000008	T	0.12008	0.0292	N	0.01168	-0.975	0.58432	D	0.999991	B;B	0.18461	0.006;0.028	B;B	0.14023	0.01;0.01	T	0.18147	-1.0346	10	0.16420	T	0.52	.	15.9463	0.79796	0.0:0.0:1.0:0.0	.	843;843	B2RUU3;Q14185	.;DOCK1_HUMAN	K	843	ENSP00000280333:E843K	ENSP00000280333:E843K	E	+	1	0	DOCK1	128798575	1.000000	0.71417	0.954000	0.39281	0.512000	0.34134	8.448000	0.90335	2.533000	0.85409	0.655000	0.94253	GAA	DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.418	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	171	0.00	0	G	NM_001380		128908585	128908585	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	119	21.71	33	SNP	1.000	A
DOCK10	55619	genome.wustl.edu	37	2	225670004	225670004	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:225670004G>T	ENST00000258390.7	-	36	4037	c.3970C>A	c.(3970-3972)Ctt>Att	p.L1324I	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1318I	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1324					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCAAATCGAAGAGTTGAGCCA	0.403																																						dbGAP											0													145.0	137.0	140.0					2																	225670004		1874	4101	5975	-	-	-	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3970C>A	2.37:g.225670004G>T	ENSP00000258390:p.Leu1324Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1324I	ENST00000258390.7	37	c.3970	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060059	0.19987	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19669	2.13;2.13	5.74	4.81	0.61882	.	0.182569	0.49916	D	0.000127	T	0.21468	0.0517	L	0.51422	1.61	0.34321	D	0.686559	B;B;B	0.29188	0.236;0.012;0.033	B;B;B	0.30029	0.11;0.016;0.021	T	0.14504	-1.0470	10	0.17369	T	0.5	.	16.7301	0.85432	0.0:0.0:0.8705:0.1295	.	1324;178;1318	Q96BY6;B4DF07;B3FL70	DOC10_HUMAN;.;.	I	1318;1324	ENSP00000386694:L1318I;ENSP00000258390:L1324I	ENSP00000258390:L1324I	L	-	1	0	DOCK10	225378248	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	3.937000	0.56575	2.873000	0.98535	0.561000	0.74099	CTT	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	177	0.00	0	G			225670004	225670004	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	missense	148	15.43	27	SNP	0.992	T
DOCK10	55619	genome.wustl.edu	37	2	225750448	225750448	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:225750448C>A	ENST00000258390.7	-	7	754	c.687G>T	c.(685-687)gaG>gaT	p.E229D	DOCK10_ENST00000409592.3_Missense_Mutation_p.E223D	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	229	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGATATTTTCTCATCTTTGT	0.373																																						dbGAP											0													95.0	87.0	89.0					2																	225750448		1839	4100	5939	-	-	-	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.687G>T	2.37:g.225750448C>A	ENSP00000258390:p.Glu229Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E229D	ENST00000258390.7	37	c.687	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743983	0.69418	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.13307	2.6;2.6	5.53	0.371	0.16168	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	L	0.53780	1.695	0.38726	D	0.953552	P;P;D	0.55172	0.93;0.936;0.97	D;D;D	0.75484	0.981;0.976;0.986	T	0.01405	-1.1363	10	0.44086	T	0.13	.	9.9146	0.41425	0.0:0.4469:0.0:0.5531	.	229;229;223	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	D	223;229	ENSP00000386694:E223D;ENSP00000258390:E229D	ENSP00000258390:E229D	E	-	3	2	DOCK10	225458692	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	0.489000	0.22387	0.068000	0.16574	-0.312000	0.09012	GAG	DOCK10	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000135905		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	275	0.36	1	C			225750448	225750448	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	missense	152	33.33	76	SNP	1.000	A
DOCK10	55619	genome.wustl.edu	37	2	225796315	225796315	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:225796315C>T	ENST00000258390.7	-	2	261	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.R59Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	65					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGATCATTCCGGTAGGTCTT	0.403																																						dbGAP											0													104.0	103.0	103.0					2																	225796315		1864	4106	5970	-	-	-	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.194G>A	2.37:g.225796315C>T	ENSP00000258390:p.Arg65Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R65Q	ENST00000258390.7	37	c.194	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931924	0.34096	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.40756	1.02;1.02	5.59	-0.477	0.12097	.	0.909201	0.09708	N	0.766033	T	0.15955	0.0384	N	0.02247	-0.625	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.26326	-1.0106	10	0.23302	T	0.38	.	6.5785	0.22581	0.0:0.4746:0.204:0.3214	.	65;65;59	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	Q	59;65	ENSP00000386694:R59Q;ENSP00000258390:R65Q	ENSP00000258390:R65Q	R	-	2	0	DOCK10	225504559	0.000000	0.05858	0.684000	0.30055	0.992000	0.81027	-0.304000	0.08199	-0.011000	0.14247	0.563000	0.77884	CGG	DOCK10	-	pfam_DUF3398	ENSG00000135905		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	587	0.00	0	C			225796315	225796315	-1	no_errors	ENST00000258390	ensembl	human	known	69_37n	missense	285	29.38	119	SNP	0.013	T
DOCK11	139818	genome.wustl.edu	37	X	117732035	117732035	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:117732035T>C	ENST00000276202.7	+	22	2491	c.2428T>C	c.(2428-2430)Ttg>Ctg	p.L810L	DOCK11_ENST00000276204.6_Silent_p.L810L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	810	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGCAAAGCCTTTGTTGAAGAT	0.289																																						dbGAP											0													107.0	97.0	100.0					X																	117732035		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2428T>C	X.37:g.117732035T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L810	ENST00000276202.7	37	c.2428	CCDS35373.1	X																																																																																			DOCK11	-	NULL	ENSG00000147251		0.289	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	384	0.26	1	T	NM_144658		117732035	117732035	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	silent	237	27.08	88	SNP	0.998	C
DOCK11	139818	genome.wustl.edu	37	X	117752646	117752646	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:117752646G>T	ENST00000276202.7	+	31	3489	c.3426G>T	c.(3424-3426)aaG>aaT	p.K1142N	DOCK11_ENST00000276204.6_Missense_Mutation_p.K1142N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1142					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGTTATAAAGAATCTTTTGA	0.373																																						dbGAP											0													74.0	65.0	68.0					X																	117752646		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3426G>T	X.37:g.117752646G>T	ENSP00000276202:p.Lys1142Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K1142N	ENST00000276202.7	37	c.3426	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436735	0.62955	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.97186	-4.28;-4.28	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.98036	0.9353	M	0.82823	2.61	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97722	1.0197	10	0.54805	T	0.06	-0.0162	8.9617	0.35851	0.2238:0.0:0.7762:0.0	.	1142;1142	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1142	ENSP00000276204:K1142N;ENSP00000276202:K1142N	ENSP00000276202:K1142N	K	+	3	2	DOCK11	117636674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.941000	0.40233	2.521000	0.84997	0.544000	0.68410	AAG	DOCK11	-	NULL	ENSG00000147251		0.373	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	153	0.00	0	G	NM_144658		117752646	117752646	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	missense	110	14.73	19	SNP	1.000	T
DOCK11	139818	genome.wustl.edu	37	X	117782984	117782984	+	Missense_Mutation	SNP	C	C	T	rs201887062		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:117782984C>T	ENST00000276202.7	+	41	4538	c.4475C>T	c.(4474-4476)tCg>tTg	p.S1492L	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1492L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1492					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1492*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGCTGCACATCGAAGATTAGC	0.363													C|||	1	0.000264901	0.0	0.0	3775	,	,		12890	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Nonsense(1)	breast(1)											149.0	141.0	144.0					X																	117782984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4475C>T	X.37:g.117782984C>T	ENSP00000276202:p.Ser1492Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1492L	ENST00000276202.7	37	c.4475	CCDS35373.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.8	4.050734	0.75960	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.76968	-1.06;-1.06	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92586	0.6079	10	0.72032	D	0.01	-5.6397	18.9793	0.92749	0.0:1.0:0.0:0.0	.	1492;1492	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	1492	ENSP00000276204:S1492L;ENSP00000276202:S1492L	ENSP00000276202:S1492L	S	+	2	0	DOCK11	117667012	1.000000	0.71417	0.991000	0.47740	0.379000	0.30106	5.770000	0.68873	2.430000	0.82344	0.429000	0.28392	TCG	DOCK11	-	NULL	ENSG00000147251		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	245	0.00	0	C	NM_144658		117782984	117782984	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	missense	164	12.77	24	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51184042	51184042	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:51184042G>A	ENST00000266037.9	+	10	832	c.809G>A	c.(808-810)cGa>cAa	p.R270Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	270					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGATAGAACGAATGTGTGCC	0.428																																						dbGAP											0													129.0	136.0	134.0					3																	51184042		1925	4122	6047	-	-	-	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.809G>A	3.37:g.51184042G>A	ENSP00000266037:p.Arg270Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R270Q	ENST00000266037.9	37	c.809	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476513	0.84640	.	.	ENSG00000088538	ENST00000266037	T	0.05139	3.49	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.78916	2.43	0.45930	D	0.99876	D	0.89917	1.0	D	0.73380	0.98	T	0.00670	-1.1617	10	0.32370	T	0.25	.	16.875	0.86050	0.0:0.0:1.0:0.0	.	270	Q8IZD9	DOCK3_HUMAN	Q	270	ENSP00000266037:R270Q	ENSP00000266037:R270Q	R	+	2	0	DOCK3	51159082	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.973000	0.88032	2.517000	0.84864	0.643000	0.83706	CGA	DOCK3	-	NULL	ENSG00000088538		0.428	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	808	0.12	1	G	NM_004947		51184042	51184042	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	missense	547	26.53	199	SNP	1.000	A
DOCK3	1795	genome.wustl.edu	37	3	51265432	51265432	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:51265432G>T	ENST00000266037.9	+	17	1583	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	520	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGGGGAAAAGAAACTCTTTG	0.433																																						dbGAP											0													140.0	132.0	134.0					3																	51265432		1978	4164	6142	-	-	-	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1560G>T	3.37:g.51265432G>T	ENSP00000266037:p.Lys520Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.K520N	ENST00000266037.9	37	c.1560	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088244	0.76756	.	.	ENSG00000088538	ENST00000266037	T	0.14516	2.5	5.96	5.09	0.68999	.	0.049475	0.85682	D	0.000000	T	0.36026	0.0952	M	0.67397	2.05	0.58432	D	0.999997	D	0.76494	0.999	D	0.75484	0.986	T	0.10314	-1.0635	10	0.56958	D	0.05	.	15.294	0.73888	0.067:0.0:0.933:0.0	.	520	Q8IZD9	DOCK3_HUMAN	N	520	ENSP00000266037:K520N	ENSP00000266037:K520N	K	+	3	2	DOCK3	51240472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.107000	0.50329	1.536000	0.49237	0.650000	0.86243	AAG	DOCK3	-	NULL	ENSG00000088538		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	248	0.00	0	G	NM_004947		51265432	51265432	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	missense	224	10.04	25	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51387778	51387778	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:51387778C>A	ENST00000266037.9	+	40	4085	c.4062C>A	c.(4060-4062)ttC>ttA	p.F1354L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1354	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCCTGAGTTCTTTCGGGTCG	0.443																																						dbGAP											0													175.0	176.0	175.0					3																	51387778		1913	4133	6046	-	-	-	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4062C>A	3.37:g.51387778C>A	ENSP00000266037:p.Phe1354Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O15017	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.F1354L	ENST00000266037.9	37	c.4062	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209440	0.79240	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.06294	3.32	5.31	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	M	0.72894	2.215	0.58432	D	0.999992	D	0.71674	0.998	D	0.81914	0.995	T	0.00351	-1.1796	10	0.87932	D	0	.	7.7235	0.28746	0.0:0.647:0.0:0.3529	.	1354	Q8IZD9	DOCK3_HUMAN	L	1354;150	ENSP00000266037:F1354L	ENSP00000266037:F1354L	F	+	3	2	DOCK3	51362818	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.851000	0.48302	1.229000	0.43630	0.585000	0.79938	TTC	DOCK3	-	NULL	ENSG00000088538		0.443	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	433	0.00	0	C	NM_004947		51387778	51387778	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	missense	282	23.99	89	SNP	1.000	A
DOCK4	9732	genome.wustl.edu	37	7	111508173	111508173	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:111508173C>T	ENST00000437633.1	-	22	2403	c.2147G>A	c.(2146-2148)cGa>cAa	p.R716Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R716Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	716					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAACAGCCTTCGAGATTGAAC	0.383																																						dbGAP											0													55.0	56.0	56.0					7																	111508173		1838	4083	5921	-	-	-	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2147G>A	7.37:g.111508173C>T	ENSP00000404179:p.Arg716Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.R716Q	ENST00000437633.1	37	c.2147	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.619999|5.619999	0.96660|0.96660	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000423057;ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.05996	.|3.36;3.37	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33118|0.33118	0.0852|0.0852	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.996;0.995;0.995;0.998	T|T	0.07908|0.07908	-1.0748|-1.0748	5|10	.|0.87932	.|D	.|0	.|.	20.0822|20.0822	0.97779|0.97779	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|716;716;716;716	.|Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.|.;.;DOCK4_HUMAN;.	K|Q	168;704|704;716;716;704;715	.|ENSP00000410746:R716Q;ENSP00000404179:R716Q	.|ENSP00000345432:R704Q	E|R	-|-	1|2	0|0	DOCK4|DOCK4	111295409|111295409	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.445000|7.445000	0.80570|0.80570	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAA|CGA	DOCK4	-	NULL	ENSG00000128512		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	211	0.00	0	C	NM_014705		111508173	111508173	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	missense	165	12.70	24	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25174584	25174584	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:25174584G>A	ENST00000276440.7	+	14	1424	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	460	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AAGGGAAGAAGAAGACGCCAA	0.512																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											0													220.0	181.0	194.0					8																	25174584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1380G>A	8.37:g.25174584G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E232K	ENST00000276440.7	37	c.694	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	G	5.636	0.301935	0.10678	.	.	ENSG00000147459	ENST00000444569	.	.	.	5.36	4.49	0.54785	.	.	.	.	.	T	0.69708	0.3141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68804	-0.5312	4	.	.	.	.	14.0153	0.64521	0.0725:0.0:0.9275:0.0	.	.	.	.	K	232	.	.	E	+	1	0	DOCK5	25230501	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	5.750000	0.68712	1.286000	0.44565	0.558000	0.71614	GAA	DOCK5	-	NULL	ENSG00000147459		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	73	0.00	0	G	NM_024940		25174584	25174584	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444569	ensembl	human	novel	69_37n	missense	103	11.86	14	SNP	1.000	A
DOCK6	57572	genome.wustl.edu	37	19	11356497	11356497	+	Missense_Mutation	SNP	C	C	A	rs367545127		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11356497C>A	ENST00000294618.7	-	8	875	c.864G>T	c.(862-864)gaG>gaT	p.E288D		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	288					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTTCTTTTTCTCCCGCACAT	0.537																																						dbGAP											0													29.0	33.0	32.0					19																	11356497		1901	4143	6044	-	-	-	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.864G>T	19.37:g.11356497C>A	ENSP00000294618:p.Glu288Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398	p.E288D	ENST00000294618.7	37	c.864	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862057	0.71949	.	.	ENSG00000130158	ENST00000294618	T	0.42131	0.98	4.94	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.51914	1.62	0.50813	D	0.999896	D	0.55605	0.972	P	0.52309	0.695	T	0.34129	-0.9841	10	0.66056	D	0.02	-27.0225	7.7501	0.28892	0.0:0.5739:0.0:0.4261	.	288	Q96HP0	DOCK6_HUMAN	D	288	ENSP00000294618:E288D	ENSP00000294618:E288D	E	-	3	2	DOCK6	11217497	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	1.172000	0.31908	0.495000	0.27882	0.462000	0.41574	GAG	DOCK6	-	NULL	ENSG00000130158		0.537	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	165	0.00	0	C	NM_020812		11356497	11356497	-1	no_errors	ENST00000294618	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	0.998	A
DOCK7	85440	genome.wustl.edu	37	1	62962169	62962169	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:62962169C>A	ENST00000340370.5	-	37	4689		c.e37-1		DOCK7_ENST00000251157.5_Splice_Site	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGGCAAAGTTCTGTAACAGAG	0.323																																						dbGAP											0													58.0	57.0	57.0					1																	62962169		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4672-1G>T	1.37:g.62962169C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Splice_Site	SNP	-	e38-1	ENST00000340370.5	37	c.4738-1	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404170	0.83230	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000454575;ENST00000395441	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7722	0.96370	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK7	62734757	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.814000	0.86154	2.672000	0.90937	0.585000	0.79938	.	DOCK7	-	-	ENSG00000116641		0.323	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	238	0.00	0	C	NM_033407	Intron	62962169	62962169	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	splice_site	175	11.17	22	SNP	1.000	A
DOCK7	85440	genome.wustl.edu	37	1	63113857	63113857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:63113857C>A	ENST00000340370.5	-	6	669	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.E218*|DOCK7_ENST00000404627.2_Nonsense_Mutation_p.E218*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	218					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CGGTCTATTTCTTCATTTGGA	0.398																																						dbGAP											0													114.0	117.0	116.0					1																	63113857		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.652G>T	1.37:g.63113857C>A	ENSP00000340742:p.Glu218*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.E218*	ENST00000340370.5	37	c.652	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.173397	0.94807	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	.	.	.	4.88	4.88	0.63580	.	0.101204	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.2377	0.89956	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000251157:E218X	E	-	1	0	DOCK7	62886445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.801000	0.69115	2.517000	0.84864	0.563000	0.77884	GAA	DOCK7	-	NULL	ENSG00000116641		0.398	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	190	0.00	0	C	NM_033407		63113857	63113857	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	nonsense	112	24.32	36	SNP	1.000	A
DOCK8	81704	genome.wustl.edu	37	9	377198	377198	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:377198C>T	ENST00000453981.1	+	20	2539	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	DOCK8_ENST00000432829.2_Silent_p.I741I|DOCK8_ENST00000382329.1_Silent_p.I276I|DOCK8_ENST00000382331.1_Silent_p.I111I|DOCK8_ENST00000469391.1_Silent_p.I741I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	809					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCATGGTCATCGCTGGCCAGA	0.572																																						dbGAP											0													24.0	19.0	20.0					9																	377198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2427C>T	9.37:g.377198C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.I809	ENST00000453981.1	37	c.2427	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.572	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	46	0.00	0	C	XM_036307		377198	377198	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	silent	32	15.79	6	SNP	0.303	T
DOCK8	81704	genome.wustl.edu	37	9	405080	405080	+	Intron	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:405080A>T	ENST00000453981.1	+	27	3502				DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000382329.1_Intron|DOCK8_ENST00000382331.1_Nonsense_Mutation_p.K435*|DOCK8_ENST00000469391.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCAGGTAATAAAAGAATTATT	0.313																																						dbGAP											0													56.0	53.0	54.0					9																	405080		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3390+7A>T	9.37:g.405080A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Nonsense_Mutation	SNP	NULL	p.K435*	ENST00000453981.1	37	c.1303	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	36	5.649393	0.96714	.	.	ENSG00000107099	ENST00000382331	.	.	.	0.541	0.541	0.17168	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6143	0.04900	0.5614:0.0:0.0:0.4385	.	.	.	.	X	435	.	.	K	+	1	0	DOCK8	395080	0.000000	0.05858	0.077000	0.20336	0.323000	0.28346	-0.135000	0.10420	0.441000	0.26529	0.260000	0.18958	AAA	DOCK8	-	NULL	ENSG00000107099		0.313	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	63	0.00	0	A	XM_036307		405080	405080	+1	no_errors	ENST00000382331	ensembl	human	putative	69_37n	nonsense	88	11.11	11	SNP	0.083	T
DOCK8	81704	genome.wustl.edu	37	9	420474	420474	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:420474A>C	ENST00000453981.1	+	31	4026	c.3914A>C	c.(3913-3915)aAa>aCa	p.K1305T	DOCK8_ENST00000432829.2_Missense_Mutation_p.K1237T|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.K772T|DOCK8_ENST00000469391.1_Missense_Mutation_p.K1205T			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1305					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGGATCATGAAAAATGCTGAT	0.463																																						dbGAP											0													171.0	145.0	154.0					9																	420474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3914A>C	9.37:g.420474A>C	ENSP00000408464:p.Lys1305Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.K1305T	ENST00000453981.1	37	c.3914	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	A	28.2	4.899309	0.91962	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.63674	0.2531	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.992;0.994;0.994	T	0.72404	-0.4304	10	0.87932	D	0	.	15.9132	0.79488	1.0:0.0:0.0:0.0	.	1205;772;1305	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	T	1305;1273;1237;1205;772	ENSP00000408464:K1305T;ENSP00000394888:K1237T;ENSP00000419438:K1205T;ENSP00000371766:K772T	ENSP00000287364:K1273T	K	+	2	0	DOCK8	410474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.148000	0.66965	0.533000	0.62120	AAA	DOCK8	-	NULL	ENSG00000107099		0.463	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	136	0.00	0	A	XM_036307		420474	420474	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	missense	101	28.87	41	SNP	1.000	C
DOCK9	23348	genome.wustl.edu	37	13	99508282	99508282	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:99508282G>T	ENST00000376460.1	-	34	3781	c.3701C>A	c.(3700-3702)tCt>tAt	p.S1234Y	DOCK9_ENST00000448493.2_Missense_Mutation_p.S1246Y|DOCK9_ENST00000339416.2_Missense_Mutation_p.S1235Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1235					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTATATGGAGAAGCTAAATG	0.363																																						dbGAP											0													119.0	106.0	110.0					13																	99508282		1836	4101	5937	-	-	-	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.3701C>A	13.37:g.99508282G>T	ENSP00000365643:p.Ser1234Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1235Y	ENST00000376460.1	37	c.3704	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670690	0.67814	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000448493	T;T;T	0.24538	1.85;1.85;1.85	5.9	5.9	0.94986	.	0.061993	0.64402	D	0.000002	T	0.30727	0.0774	L	0.44542	1.39	0.80722	D	1	P;B;B	0.35780	0.52;0.203;0.072	B;B;B	0.38378	0.1;0.272;0.043	T	0.03981	-1.0987	10	0.87932	D	0	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	1235;1234;1235	A8MWZ5;Q9BZ29-5;Q9BZ29	.;.;DOCK9_HUMAN	Y	1234;1235;1235;1235;1234;165;1235;1246	ENSP00000365643:S1234Y;ENSP00000341086:S1235Y;ENSP00000401958:S1246Y	ENSP00000341086:S1235Y	S	-	2	0	DOCK9	98306283	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.444000	0.97578	2.806000	0.96561	0.655000	0.94253	TCT	DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.363	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	248	0.00	0	G	NM_015296		99508282	99508282	-1	no_errors	ENST00000339416	ensembl	human	known	69_37n	missense	179	18.26	40	SNP	1.000	T
DOK3	79930	genome.wustl.edu	37	5	176930125	176930125	+	IGR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176930125G>A	ENST00000357198.4	-	0	1729				DOK3_ENST00000312943.6_Missense_Mutation_p.A305V|DOK3_ENST00000377112.4_Missense_Mutation_p.A203V|RP11-1334A24.6_ENST00000506025.1_RNA	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3						Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAGGCATGACGCTTGCGTGCG	0.597																																						dbGAP											0													26.0	28.0	27.0					5																	176930125		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850		5.37:g.176930125G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.A305V	ENST00000357198.4	37	c.914	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513860	0.44763	.	.	ENSG00000146094	ENST00000312943;ENST00000377112	T;T	0.53857	0.66;0.6	2.11	-2.05	0.07321	.	.	.	.	.	T	0.21347	0.0514	N	0.08118	0	0.09310	N	1	P;P;P	0.46142	0.665;0.545;0.873	B;B;B	0.32624	0.071;0.019;0.149	T	0.16070	-1.0415	9	0.34782	T	0.22	.	5.1989	0.15252	0.1552:0.5469:0.2979:0.0	.	203;305;191	E9PAT0;Q7L591-3;Q7L591-2	.;.;.	V	305;203	ENSP00000325174:A305V;ENSP00000366316:A203V	ENSP00000325174:A305V	A	-	2	0	DOK3	176862731	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.135000	0.15952	-0.550000	0.06183	0.313000	0.20887	GCG	DOK3	-	NULL	ENSG00000146094		0.597	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	51	0.00	0	G	NM_024872		176930125	176930125	-1	no_errors	ENST00000312943	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	0.000	A
DONSON	29980	genome.wustl.edu	37	21	34953719	34953719	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:34953719A>C	ENST00000303071.5	-	8	1305	c.1239T>G	c.(1237-1239)aaT>aaG	p.N413K	DONSON_ENST00000432378.1_Missense_Mutation_p.N413K|DONSON_ENST00000453626.1_Missense_Mutation_p.N413K|DONSON_ENST00000303113.6_Missense_Mutation_p.N399K	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	413					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TAATCAAAAAATTGAGCAATG	0.433																																						dbGAP											0													87.0	83.0	85.0					21																	34953719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1239T>G	21.37:g.34953719A>C	ENSP00000307143:p.Asn413Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.N413K	ENST00000303071.5	37	c.1239	CCDS13632.1	21	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	21.5|21.5|21.5	4.163633|4.163633|4.163633	0.78226|0.78226|0.78226	.|.|.	.|.|.	ENSG00000159147|ENSG00000159147|ENSG00000159147	ENST00000440810|ENST00000437395|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.|.	.|.|.	.|.|.	5.6|5.6|5.6	-0.0905|-0.0905|-0.0905	0.13664|0.13664|0.13664	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.76807|0.76807|0.76807	0.4039|0.4039|0.4039	M|M|M	0.86178|0.86178|0.86178	2.8|2.8|2.8	0.52501|0.52501|0.52501	D|D|D	0.999957|0.999957|0.999957	.|.|D;D	.|.|0.89917	.|.|1.0;1.0	.|.|D;D	.|.|0.97110	.|.|1.0;1.0	T|T|T	0.76173|0.76173|0.76173	-0.3056|-0.3056|-0.3056	5|5|9	.|.|0.66056	.|.|D	.|.|0.02	-42.6235|-42.6235|-42.6235	9.654|9.654|9.654	0.39914|0.39914|0.39914	0.3455:0.0:0.6545:0.0|0.3455:0.0:0.6545:0.0|0.3455:0.0:0.6545:0.0	.|.|.	.|.|399;413	.|.|F8W8A5;Q9NYP3	.|.|.;DONS_HUMAN	V|S|K	185|384|399;413;413;413	.|.|.	.|.|ENSP00000307143:N413K	F|I|N	-|-|-	1|2|3	0|0|2	DONSON|DONSON|DONSON	33875589|33875589|33875589	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	2.566000|2.566000|2.566000	0.45948|0.45948|0.45948	0.022000|0.022000|0.022000	0.15160|0.15160|0.15160	0.373000|0.373000|0.373000	0.22412|0.22412|0.22412	TTT|ATT|AAT	DONSON	-	NULL	ENSG00000159147		0.433	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1	229	0.00	0	A	NM_017613		34953719	34953719	-1	no_errors	ENST00000303071	ensembl	human	known	69_37n	missense	141	17.54	30	SNP	1.000	C
DONSON	29980	genome.wustl.edu	37	21	34954523	34954523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:34954523C>A	ENST00000303071.5	-	6	1060	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	DONSON_ENST00000432378.1_Nonsense_Mutation_p.E332*|DONSON_ENST00000453626.1_Nonsense_Mutation_p.E332*|DONSON_ENST00000303113.6_Nonsense_Mutation_p.E318*	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	332					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGGCCACTTTCTTTTATTAAA	0.343																																						dbGAP											0													97.0	91.0	93.0					21																	34954523		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.994G>T	21.37:g.34954523C>A	ENSP00000307143:p.Glu332*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Nonsense_Mutation	SNP	NULL	p.E332*	ENST00000303071.5	37	c.994	CCDS13632.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.826048|5.826048	0.96996|0.96996	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378|ENST00000437395	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.097230|.	0.64402|.	D|.	0.000002|.	.|T	.|0.71290	.|0.3322	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65323	.|-0.6196	.|4	0.62326|0.30078	D|T	0.03|0.28	-28.9488|-28.9488	17.3141|17.3141	0.87217|0.87217	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	318;332;332;332|302	.|.	ENSP00000307143:E332X|ENSP00000399535:K302N	E|K	-|-	1|3	0|2	DONSON|DONSON	33876393|33876393	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.773000|0.773000	0.43773|0.43773	5.343000|5.343000	0.65976|0.65976	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAA|AAG	DONSON	-	NULL	ENSG00000159147		0.343	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1	252	0.00	0	C	NM_017613		34954523	34954523	-1	no_errors	ENST00000303071	ensembl	human	known	69_37n	nonsense	161	12.37	23	SNP	1.000	A
DOPEY1	23033	genome.wustl.edu	37	6	83877791	83877791	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:83877791A>C	ENST00000349129.2	+	39	7563	c.7303A>C	c.(7303-7305)Aaa>Caa	p.K2435Q	DOPEY1_ENST00000237163.5_Missense_Mutation_p.K2339Q|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.K2446Q|PGM3_ENST00000512866.1_Intron|PGM3_ENST00000513973.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2435					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TAAGGACATGAAACTGGAGAA	0.438																																						dbGAP											0													89.0	79.0	82.0					6																	83877791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.7303A>C	6.37:g.83877791A>C	ENSP00000195654:p.Lys2435Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.K2435Q	ENST00000349129.2	37	c.7303	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	A	19.37	3.815467	0.70912	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.28666	1.65;1.6	5.76	4.57	0.56435	.	0.096968	0.64402	N	0.000001	T	0.23572	0.0570	N	0.25647	0.755	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.04593	-1.0940	10	0.15952	T	0.53	.	11.6832	0.51470	0.8521:0.1479:0.0:0.0	.	2326;2426;2435	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	Q	2435;2339;2339	ENSP00000195654:K2435Q;ENSP00000237163:K2339Q	ENSP00000237163:K2339Q	K	+	1	0	DOPEY1	83934510	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.099000	0.76981	0.969000	0.38237	0.533000	0.62120	AAA	DOPEY1	-	NULL	ENSG00000083097		0.438	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	177	0.00	0	A	NM_015018		83877791	83877791	+1	no_errors	ENST00000349129	ensembl	human	known	69_37n	missense	124	10.79	15	SNP	1.000	C
DPP10	57628	genome.wustl.edu	37	2	116447289	116447289	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:116447289A>G	ENST00000410059.1	+	6	948	c.468A>G	c.(466-468)tcA>tcG	p.S156S	DPP10_ENST00000393147.2_Silent_p.S160S|DPP10_ENST00000310323.8_Silent_p.S149S|DPP10_ENST00000409163.1_Silent_p.S106S|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	156						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATACTGCTTCATATGTGATTT	0.254																																						dbGAP											0													82.0	78.0	80.0					2																	116447289		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.468A>G	2.37:g.116447289A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S160	ENST00000410059.1	37	c.480	CCDS46400.1	2																																																																																			DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.254	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	424	0.00	0	A	NM_020868		116447289	116447289	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	silent	367	10.49	43	SNP	0.954	G
DPP10	57628	genome.wustl.edu	37	2	116534789	116534789	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:116534789A>C	ENST00000410059.1	+	14	1707	c.1227A>C	c.(1225-1227)aaA>aaC	p.K409N	DPP10_ENST00000393147.2_Missense_Mutation_p.K413N|DPP10_ENST00000310323.8_Missense_Mutation_p.K402N|DPP10_ENST00000409163.1_Missense_Mutation_p.K359N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	409						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGCAGAGTAAAAGTGAGCAAA	0.373																																						dbGAP											0													97.0	96.0	96.0					2																	116534789		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1227A>C	2.37:g.116534789A>C	ENSP00000386565:p.Lys409Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.K413N	ENST00000410059.1	37	c.1239	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	4.029	0.002809	0.07866	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.97	4.97	0.65823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.176975	0.47852	D	0.000211	T	0.07234	0.0183	N	0.00572	-1.36	0.40481	D	0.980442	B;P;B;B	0.43231	0.013;0.801;0.003;0.005	B;B;B;B	0.43225	0.009;0.412;0.01;0.01	T	0.29671	-1.0004	10	0.09843	T	0.71	-26.098	7.5011	0.27518	0.9055:0.0:0.0945:0.0	.	402;413;405;409	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	409;359;413;402;359	ENSP00000386565:K409N;ENSP00000387038:K359N;ENSP00000376855:K413N;ENSP00000309066:K402N	ENSP00000309066:K402N	K	+	3	2	DPP10	116251259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.245000	0.51407	2.205000	0.71048	0.533000	0.62120	AAA	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.373	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	348	0.00	0	A	NM_020868		116534789	116534789	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	215	14.34	36	SNP	1.000	C
DPP6	1804	genome.wustl.edu	37	7	154237627	154237627	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:154237627C>A	ENST00000377770.3	+	4	609	c.468C>A	c.(466-468)ttC>ttA	p.F156L	DPP6_ENST00000404039.1_Missense_Mutation_p.F92L|DPP6_ENST00000427557.1_Missense_Mutation_p.F94L|DPP6_ENST00000406326.1_Missense_Mutation_p.F156L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000332007.3_Missense_Mutation_p.F94L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	156					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATACAGAATTCATCTACAGAG	0.333																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													61.0	58.0	59.0					7																	154237627		1832	4085	5917	-	-	-	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.468C>A	7.37:g.154237627C>A	ENSP00000367001:p.Phe156Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.F156L	ENST00000377770.3	37	c.468		7	.	.	.	.	.	.	.	.	.	.	C	3.652	-0.071425	0.07228	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.2	4.3	0.51218	.	0.114678	0.64402	D	0.000008	T	0.27524	0.0676	.	.	.	0.43793	D	0.996336	B;B;B;B;B	0.17852	0.001;0.004;0.003;0.024;0.003	B;B;B;B;B	0.25140	0.002;0.006;0.003;0.058;0.003	T	0.06409	-1.0828	9	0.16896	T	0.51	-32.4226	10.5859	0.45282	0.0:0.8516:0.0:0.1484	.	94;94;156;156;92	E9PDL2;P42658-2;P42658;Q8IYG9;E9PF59	.;.;DPP6_HUMAN;.;.	L	92;156;156;94;94	ENSP00000385578:F92L;ENSP00000384393:F156L;ENSP00000367001:F156L;ENSP00000328226:F94L;ENSP00000397303:F94L	ENSP00000328226:F94L	F	+	3	2	DPP6	153868560	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	0.849000	0.27723	2.584000	0.87258	0.563000	0.77884	TTC	DPP6	-	NULL	ENSG00000130226		0.333	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	351	0.00	0	C	NM_130797		154237627	154237627	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	missense	173	27.62	66	SNP	1.000	A
DPP8	54878	genome.wustl.edu	37	15	65790262	65790262	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:65790262C>T	ENST00000341861.5	-	5	2283	c.703G>A	c.(703-705)Gat>Aat	p.D235N	DPP8_ENST00000300141.6_Missense_Mutation_p.D219N|DPP8_ENST00000321118.7_Missense_Mutation_p.D235N|DPP8_ENST00000339244.5_Missense_Mutation_p.D235N|DPP8_ENST00000358939.4_Missense_Mutation_p.D219N|DPP8_ENST00000559233.1_Missense_Mutation_p.D235N|DPP8_ENST00000321147.6_Missense_Mutation_p.D235N	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	235					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCCAAATATCGTTGCTATGT	0.393																																						dbGAP											0													171.0	144.0	153.0					15																	65790262		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.703G>A	15.37:g.65790262C>T	ENSP00000339208:p.Asp235Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.D235N	ENST00000341861.5	37	c.703	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.222378	0.95139	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.13	5.13	0.70059	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	L	0.58669	1.825	0.29929	N	0.822105	D;D;D;D	0.76494	0.994;0.999;0.994;0.995	D;D;D;D	0.80764	0.915;0.994;0.915;0.949	T	0.32877	-0.9890	10	0.34782	T	0.22	-19.2244	18.5836	0.91181	0.0:1.0:0.0:0.0	.	219;219;235;235	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	N	235;219;219;235;235;235;235	ENSP00000339208:D235N;ENSP00000351817:D219N;ENSP00000300141:D219N;ENSP00000318111:D235N;ENSP00000316373:D235N;ENSP00000341230:D235N;ENSP00000379013:D235N	ENSP00000300141:D219N	D	-	1	0	DPP8	63577315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.925000	0.75829	2.355000	0.79922	0.655000	0.94253	GAT	DPP8	-	pfam_Peptidase_S9B	ENSG00000074603		0.393	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	174	0.00	0	C	NM_017743		65790262	65790262	-1	no_errors	ENST00000341861	ensembl	human	known	69_37n	missense	156	13.19	24	SNP	1.000	T
DPRX	503834	genome.wustl.edu	37	19	54137844	54137844	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:54137844G>T	ENST00000376650.1	+	2	139	c.88G>T	c.(88-90)Gat>Tat	p.D30Y		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GCAACTGGAAGATCTGAACAT	0.443																																						dbGAP											0													171.0	146.0	155.0					19																	54137844		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.88G>T	19.37:g.54137844G>T	ENSP00000365838:p.Asp30Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.D30Y	ENST00000376650.1	37	c.88	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323799	0.24080	.	.	ENSG00000204595	ENST00000376650	D	0.96136	-3.92	1.55	0.424	0.16468	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.94735	0.8301	L	0.37850	1.14	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	D	0.86669	0.1909	9	0.72032	D	0.01	.	4.9026	0.13782	0.0:0.0:0.6426:0.3574	.	30	A6NFQ7	DPRX_HUMAN	Y	30	ENSP00000365838:D30Y	ENSP00000365838:D30Y	D	+	1	0	DPRX	58829656	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.053000	0.14184	0.205000	0.20568	0.555000	0.69702	GAT	DPRX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000204595		0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	330	0.30	1	G	NM_001012728		54137844	54137844	+1	no_errors	ENST00000376650	ensembl	human	known	69_37n	missense	288	26.15	102	SNP	0.005	T
DPT	1805	genome.wustl.edu	37	1	168665799	168665799	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:168665799A>C	ENST00000367817.3	-	4	683	c.594T>G	c.(592-594)ttT>ttG	p.F198L		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	198					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)					AAACATTTGCAAATTCACAGT	0.458																																						dbGAP											0													95.0	88.0	90.0					1																	168665799		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.594T>G	1.37:g.168665799A>C	ENSP00000356791:p.Phe198Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	NULL	p.F198L	ENST00000367817.3	37	c.594	CCDS1275.1	1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967865	0.74131	.	.	ENSG00000143196	ENST00000367817	T	0.49139	0.79	5.64	-1.49	0.08718	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.59436	1.845	0.48571	D	0.999677	D	0.56035	0.974	D	0.67725	0.953	T	0.51710	-0.8671	9	0.66056	D	0.02	-3.7326	10.4908	0.44750	0.5907:0.0:0.4093:0.0	.	198	Q07507	DERM_HUMAN	L	198	ENSP00000356791:F198L	ENSP00000356791:F198L	F	-	3	2	DPT	166932423	0.989000	0.36119	0.395000	0.26283	0.832000	0.47134	1.129000	0.31381	-0.537000	0.06290	-1.062000	0.02293	TTT	DPT	-	NULL	ENSG00000143196		0.458	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1	260	0.00	0	A	NM_001937		168665799	168665799	-1	no_errors	ENST00000367817	ensembl	human	known	69_37n	missense	127	28.25	50	SNP	0.989	C
DPY19L2	283417	genome.wustl.edu	37	12	63991662	63991662	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:63991662C>A	ENST00000324472.4	-	14	1571	c.1388G>T	c.(1387-1389)aGa>aTa	p.R463I		NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	463					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCTTAAGATTCTGGCTGCTAT	0.318																																						dbGAP											0													45.0	51.0	49.0					12																	63991662		2201	4286	6487	-	-	-	SO:0001583	missense	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1388G>T	12.37:g.63991662C>A	ENSP00000315988:p.Arg463Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Nonsense_Mutation	SNP	pfam_Dpy-19	p.E57*	ENST00000324472.4	37	c.169	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532279	0.64972	.	.	ENSG00000177990	ENST00000324472	T	0.57107	0.42	3.14	2.22	0.28083	.	0.054579	0.64402	D	0.000001	T	0.38161	0.1030	N	0.08118	0	0.80722	D	1	P	0.48834	0.916	P	0.54026	0.74	T	0.10613	-1.0622	9	.	.	.	.	6.5881	0.22632	0.0:0.8571:0.0:0.1429	.	463	Q6NUT2	D19L2_HUMAN	I	463	ENSP00000315988:R463I	.	R	-	2	0	DPY19L2	62277929	1.000000	0.71417	0.947000	0.38551	0.961000	0.63080	1.973000	0.40550	0.621000	0.30232	0.580000	0.79431	AGA	DPY19L2	-	pfam_Dpy-19	ENSG00000177990		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	142	0.00	0	C	NM_173812		63991662	63991662	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000439061	ensembl	human	known	69_37n	nonsense	110	13.39	17	SNP	0.998	A
DPY19L2P2	349152	genome.wustl.edu	37	7	102835917	102835917	+	RNA	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:102835917A>G	ENST00000312132.4	-	0	3682							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCCACTGTAAAAGTTCTTCC	0.348																																						dbGAP											0																																										-	-	-			0			AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102835917A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9V4|Q8ND62	RNA	SNP	-	NULL	ENST00000312132.4	37	NULL		7																																																																																			DPY19L2P2	-	-	ENSG00000170629		0.348	DPY19L2P2-002	KNOWN	basic	processed_transcript	DPY19L2P2	HGNC	pseudogene	OTTHUMT00000347877.1	144	0.00	0	A	NM_182634		102835917	102835917	-1	no_errors	ENST00000312132	ensembl	human	known	69_37n	rna	97	14.16	16	SNP	0.974	G
DPY19L3	147991	genome.wustl.edu	37	19	32930007	32930007	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:32930007C>A	ENST00000342179.5	+	7	811				DPY19L3_ENST00000392250.2_Intron|DPY19L3_ENST00000586987.1_Intron	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTTGTGTTTTCTTTTGTGCAG	0.368																																						dbGAP											0													159.0	156.0	157.0					19																	32930007		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.597-11C>A	19.37:g.32930007C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DC7|Q6ZTB7|Q6ZTS2	RNA	SNP	-	NULL	ENST00000342179.5	37	NULL	CCDS12422.1	19																																																																																			DPY19L3	-	-	ENSG00000178904		0.368	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	344	0.29	1	C	NM_207325		32930007	32930007	+1	no_errors	ENST00000585597	ensembl	human	known	69_37n	rna	203	28.52	81	SNP	0.005	A
DPY19L4	286148	genome.wustl.edu	37	8	95789985	95789985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:95789985C>T	ENST00000414645.2	+	14	1645	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	516						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CAAGTGGCTTCGATTAAGAAC	0.343																																						dbGAP											0													206.0	179.0	188.0					8																	95789985		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1546C>T	8.37:g.95789985C>T	ENSP00000389630:p.Arg516*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZW32|Q6ZW42|Q7Z329	Nonsense_Mutation	SNP	pfam_Dpy-19	p.R516*	ENST00000414645.2	37	c.1546	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	C	40	8.442520	0.98813	.	.	ENSG00000156162	ENST00000414645	.	.	.	5.35	5.35	0.76521	.	0.068075	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6729	19.4376	0.94804	0.0:1.0:0.0:0.0	.	.	.	.	X	516	.	ENSP00000389630:R516X	R	+	1	2	DPY19L4	95859161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.322000	0.59215	2.660000	0.90430	0.467000	0.42956	CGA	DPY19L4	-	pfam_Dpy-19	ENSG00000156162		0.343	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	150	0.00	0	C	NM_181787		95789985	95789985	+1	no_errors	ENST00000414645	ensembl	human	known	69_37n	nonsense	165	12.23	23	SNP	1.000	T
DPY19L4	286148	genome.wustl.edu	37	8	95800177	95800177	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:95800177C>A	ENST00000414645.2	+	18	2003	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	635						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					ATACTGACATCTTACAAAGCT	0.318																																						dbGAP											0													62.0	65.0	64.0					8																	95800177		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1904C>A	8.37:g.95800177C>A	ENSP00000389630:p.Ser635Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	pfam_Dpy-19	p.S635Y	ENST00000414645.2	37	c.1904	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426501	0.83667	.	.	ENSG00000156162	ENST00000414645	T	0.56776	0.44	4.92	4.92	0.64577	.	0.054372	0.85682	D	0.000000	T	0.71213	0.3313	M	0.71036	2.16	0.58432	D	0.999998	D	0.65815	0.995	D	0.64776	0.929	T	0.75127	-0.3427	10	0.72032	D	0.01	-1.4952	18.4795	0.90806	0.0:1.0:0.0:0.0	.	635	Q7Z388	D19L4_HUMAN	Y	635	ENSP00000389630:S635Y	ENSP00000389630:S635Y	S	+	2	0	DPY19L4	95869353	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	7.062000	0.76706	2.420000	0.82092	0.585000	0.79938	TCT	DPY19L4	-	pfam_Dpy-19	ENSG00000156162		0.318	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	98	0.00	0	C	NM_181787		95800177	95800177	+1	no_errors	ENST00000414645	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	1.000	A
DPYD	1806	genome.wustl.edu	37	1	97544613	97544613	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:97544613G>A	ENST00000370192.3	-	23	3097	c.2997C>T	c.(2995-2997)gtC>gtT	p.V999V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	999	4Fe-4S ferredoxin-type 3. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGATGCAGTCGACAATAGGGC	0.458																																						dbGAP											0													238.0	221.0	227.0					1																	97544613		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2997C>T	1.37:g.97544613G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.V999	ENST00000370192.3	37	c.2997	CCDS30777.1	1																																																																																			DPYD	-	NULL	ENSG00000188641		0.458	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	518	0.19	1	G	NM_000110		97544613	97544613	-1	no_errors	ENST00000370192	ensembl	human	known	69_37n	silent	325	10.44	38	SNP	1.000	A
DPYSL5	56896	genome.wustl.edu	37	2	27169819	27169819	+	Missense_Mutation	SNP	C	C	T	rs373724609		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27169819C>T	ENST00000288699.6	+	13	1809	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	DPYSL5_ENST00000401478.1_Missense_Mutation_p.R551W	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	551					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTTCAGCTCGGATCCTCGC	0.607																																						dbGAP											0													94.0	74.0	80.0					2																	27169819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1651C>T	2.37:g.27169819C>T	ENSP00000288699:p.Arg551Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R551W	ENST00000288699.6	37	c.1651	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887408	0.72410	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.89552	-2.53;-2.53	5.66	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.88979	2.995	0.45502	D	0.998466	D	0.89917	1.0	D	0.87578	0.998	D	0.95312	0.8413	10	0.87932	D	0	-18.7553	12.8545	0.57878	0.4207:0.5793:0.0:0.0	.	551	Q9BPU6	DPYL5_HUMAN	W	551	ENSP00000288699:R551W;ENSP00000385549:R551W	ENSP00000288699:R551W	R	+	1	2	DPYSL5	27023323	0.424000	0.25490	0.998000	0.56505	0.996000	0.88848	0.689000	0.25437	1.360000	0.45960	0.542000	0.68232	CGG	DPYSL5	-	NULL	ENSG00000157851		0.607	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	87	0.00	0	C	NM_020134		27169819	27169819	+1	no_errors	ENST00000288699	ensembl	human	known	69_37n	missense	79	15.79	15	SNP	0.999	T
DQX1	165545	genome.wustl.edu	37	2	74749893	74749893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74749893C>A	ENST00000404568.3	-	8	1528	c.1309G>T	c.(1309-1311)Gaa>Taa	p.E437*	DQX1_ENST00000495597.1_5'Flank|DQX1_ENST00000393951.2_Nonsense_Mutation_p.E437*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	437	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.E319K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ATCAGTGCTTCTGGAGCTGGT	0.527																																						dbGAP											1	Substitution - Missense(1)	lung(1)											174.0	173.0	173.0					2																	74749893		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1309G>T	2.37:g.74749893C>A	ENSP00000384621:p.Glu437*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6B017|Q8NAM8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.E437*	ENST00000404568.3	37	c.1309	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	37	6.165055	0.97338	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.5746	14.8902	0.70604	0.0:1.0:0.0:0.0	.	.	.	.	X	437	.	ENSP00000377523:E437X	E	-	1	0	DQX1	74603401	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.604000	0.82830	2.378000	0.81104	0.555000	0.69702	GAA	DQX1	-	NULL	ENSG00000144045		0.527	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	154	0.00	0	C	NM_133637		74749893	74749893	-1	no_errors	ENST00000393951	ensembl	human	known	69_37n	nonsense	153	18.18	34	SNP	1.000	A
DRAM1	55332	genome.wustl.edu	37	12	102301985	102301985	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:102301985C>A	ENST00000258534.8	+	4	803	c.364C>A	c.(364-366)Cat>Aat	p.H122N	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	122					apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						GCCAGTGGTTCATGACGGGGG	0.507																																						dbGAP											0													169.0	176.0	174.0					12																	102301985		2104	4232	6336	-	-	-	SO:0001583	missense	0			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.364C>A	12.37:g.102301985C>A	ENSP00000258534:p.His122Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4T0|Q7L3E3|Q9NUN1	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.H122N	ENST00000258534.8	37	c.364	CCDS41823.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102226	0.76983	.	.	ENSG00000136048	ENST00000258534	D	0.95035	-3.59	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97841	0.9291	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98423	1.0578	10	0.87932	D	0	.	19.2868	0.94082	0.0:1.0:0.0:0.0	.	122	Q8N682	DRAM1_HUMAN	N	122	ENSP00000258534:H122N	ENSP00000258534:H122N	H	+	1	0	DRAM1	100826116	1.000000	0.71417	0.979000	0.43373	0.531000	0.34715	5.184000	0.65070	2.653000	0.90120	0.643000	0.83706	CAT	DRAM1	-	pfam_Frag1/DRAM/Sfk1	ENSG00000136048		0.507	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM1	HGNC	protein_coding	OTTHUMT00000409195.1	366	0.00	0	C	NM_018370		102301985	102301985	+1	no_errors	ENST00000258534	ensembl	human	known	69_37n	missense	383	12.95	57	SNP	1.000	A
DRAM1	55332	genome.wustl.edu	37	12	102302142	102302142	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:102302142G>A	ENST00000258534.8	+	4	959		c.e4+1		DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1						apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						GTCATCCCCAGTATCCTTTTT	0.438																																						dbGAP											0													151.0	140.0	143.0					12																	102302142		2012	4173	6185	-	-	-	SO:0001630	splice_region_variant	0			BC018435, DA721965	CCDS41823.1	12q23.2	2014-02-12	2009-06-12		ENSG00000136048	ENSG00000136048			25645	protein-coding gene	gene with protein product	"""damage-regulated autophagy modulator"""	610776				16839881	Standard	NM_018370		Approved	FLJ11259, DRAM	uc001tix.3	Q8N682		ENST00000258534.8:c.520+1G>A	12.37:g.102302142G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4T0|Q7L3E3|Q9NUN1	Splice_Site	SNP	-	e4+1	ENST00000258534.8	37	c.520+1	CCDS41823.1	12	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705480	0.68615	.	.	ENSG00000136048	ENST00000258534;ENST00000549066	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0708	0.93136	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DRAM1	100826273	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	6.522000	0.73783	2.606000	0.88127	0.643000	0.83706	.	DRAM1	-	-	ENSG00000136048		0.438	DRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAM1	HGNC	protein_coding	OTTHUMT00000409195.1	317	0.31	1	G	NM_018370	Intron	102302142	102302142	+1	no_errors	ENST00000258534	ensembl	human	known	69_37n	splice_site	364	21.00	97	SNP	1.000	A
DRD2	1813	genome.wustl.edu	37	11	113288833	113288833	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:113288833C>A	ENST00000362072.3	-	3	655	c.311G>T	c.(310-312)aGg>aTg	p.R104M	DRD2_ENST00000544518.1_Missense_Mutation_p.R103M|DRD2_ENST00000542968.1_Missense_Mutation_p.R104M|DRD2_ENST00000346454.3_Missense_Mutation_p.R104M|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.R104M|DRD2_ENST00000538967.1_Missense_Mutation_p.R104M	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	104					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACAGTGAATCCTGCTGAATTT	0.537																																						dbGAP											0													180.0	126.0	145.0					11																	113288833		2201	4296	6497	-	-	-	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.311G>T	11.37:g.113288833C>A	ENSP00000354859:p.Arg104Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.R104M	ENST00000362072.3	37	c.311	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791975	0.70452	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.23	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.143344	0.64402	D	0.000009	D	0.84515	0.5489	M	0.80982	2.52	0.51482	D	0.999922	B;P;P;P	0.40731	0.101;0.488;0.682;0.728	B;P;P;P	0.56127	0.171;0.622;0.689;0.792	D	0.86382	0.1730	10	0.72032	D	0.01	.	14.0974	0.65032	0.0:0.9263:0.0:0.0737	.	103;104;104;104	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	M	104;104;104;103;104;104;104	ENSP00000347474:R104M;ENSP00000278597:R104M;ENSP00000354859:R104M;ENSP00000441068:R103M;ENSP00000442172:R104M;ENSP00000438215:R104M;ENSP00000438419:R104M	ENSP00000278597:R104M	R	-	2	0	DRD2	112794043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.507000	0.35758	1.344000	0.45657	-0.123000	0.14984	AGG	DRD2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000149295		0.537	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	189	0.52	1	C	NM_000795		113288833	113288833	-1	no_errors	ENST00000355319	ensembl	human	known	69_37n	missense	184	11.54	24	SNP	1.000	A
DRGX	644168	genome.wustl.edu	37	10	50599253	50599253	+	Missense_Mutation	SNP	C	C	T	rs201322873		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50599253C>T	ENST00000374139.2	-	2	99	c.89G>A	c.(88-90)cGt>cAt	p.R30H	DRGX_ENST00000434016.1_Missense_Mutation_p.R35H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	30					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTGTTTTCTACGCAGAAACCC	0.522																																						dbGAP											0													55.0	55.0	55.0					10																	50599253		1920	4117	6037	-	-	-	SO:0001583	missense	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.89G>A	10.37:g.50599253C>T	ENSP00000363254:p.Arg30His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.R35H	ENST00000374139.2	37	c.104		10	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.2	4.989722	0.93106	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95724	-3.79;-3.79	5.82	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96377	0.9278	10	0.87932	D	0	.	14.8573	0.70347	0.0:0.9312:0.0:0.0688	.	35	C9JW76	.	H	30;35	ENSP00000363254:R30H;ENSP00000401653:R35H	ENSP00000363254:R30H	R	-	2	0	DRGX	50269259	1.000000	0.71417	0.904000	0.35570	0.850000	0.48378	7.231000	0.78106	1.476000	0.48215	0.561000	0.74099	CGT	DRGX	-	superfamily_Homeodomain-like	ENSG00000165606		0.522	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	112	0.00	0	C	XM_060970		50599253	50599253	-1	no_errors	ENST00000434016	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	T
DROSHA	29102	genome.wustl.edu	37	5	31495402	31495402	+	Silent	SNP	C	C	T	rs572424094		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:31495402C>T	ENST00000511367.2	-	11	1990	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	DROSHA_ENST00000513349.1_Silent_p.T545T|DROSHA_ENST00000344624.3_Silent_p.T582T|DROSHA_ENST00000442743.1_Silent_p.T545T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	582	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTAAAAAGTTCGTAGGCGGGG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		15984	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													55.0	57.0	56.0					5																	31495402		1801	4072	5873	-	-	-	SO:0001819	synonymous_variant	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1746G>A	5.37:g.31495402C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	NULL	p.E344K	ENST00000511367.2	37	c.1030	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	7.474	0.647315	0.14516	.	.	ENSG00000113360	ENST00000512076	.	.	.	5.43	-3.47	0.04753	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30707	-0.9969	4	.	.	.	-15.9026	1.368	0.02205	0.1969:0.1242:0.2112:0.4677	.	.	.	.	K	344	.	.	E	-	1	0	DROSHA	31531159	1.000000	0.71417	0.961000	0.40146	0.791000	0.44710	0.492000	0.22435	-0.922000	0.03789	-1.631000	0.00782	GAA	DROSHA	-	NULL	ENSG00000113360		0.388	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	288	0.00	0	C	NM_013235		31495402	31495402	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512076	ensembl	human	putative	69_37n	missense	151	20.00	38	SNP	0.983	T
DSC2	1824	genome.wustl.edu	37	18	28649015	28649015	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28649015C>T	ENST00000280904.6	-	15	2796	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DSC2_ENST00000251081.6_Missense_Mutation_p.E785K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	785					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCACCATTTCGATGGTCTCC	0.582																																						dbGAP											0													81.0	73.0	76.0					18																	28649015		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2353G>A	18.37:g.28649015C>T	ENSP00000280904:p.Glu785Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E785K	ENST00000280904.6	37	c.2353	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502549	0.64298	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.59638	0.36;0.25	5.46	4.59	0.56863	.	0.000000	0.32836	N	0.005587	T	0.73745	0.3626	M	0.83692	2.655	0.42614	D	0.993327	D;D	0.76494	0.998;0.999	D;D	0.64877	0.909;0.93	T	0.77678	-0.2498	10	0.87932	D	0	.	10.0343	0.42120	0.0:0.7896:0.1377:0.0727	.	785;785	Q02487;Q02487-2	DSC2_HUMAN;.	K	785;785;551;798	ENSP00000251081:E785K;ENSP00000280904:E785K	ENSP00000251081:E785K	E	-	1	0	DSC2	26903013	0.997000	0.39634	0.821000	0.32701	0.346000	0.29079	2.471000	0.45127	1.430000	0.47334	0.462000	0.41574	GAA	DSC2	-	NULL	ENSG00000134755		0.582	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	142	0.00	0	C	NM_004949		28649015	28649015	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	missense	82	18.00	18	SNP	0.979	T
DSC2	1824	genome.wustl.edu	37	18	28651676	28651676	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28651676C>T	ENST00000280904.6	-	13	2463	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	DSC2_ENST00000251081.6_Missense_Mutation_p.E674K|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	674	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAGTCATTTTCGGTAATGCAG	0.448																																						dbGAP											0													146.0	114.0	125.0					18																	28651676		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2020G>A	18.37:g.28651676C>T	ENSP00000280904:p.Glu674Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E674K	ENST00000280904.6	37	c.2020	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039136	0.55003	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.59224	0.31;0.28	6.16	2.05	0.26809	Cadherin (2);	0.656346	0.11814	N	0.526841	T	0.52565	0.1742	M	0.69823	2.125	0.09310	N	1	P;P	0.38250	0.624;0.617	B;B	0.31946	0.103;0.138	T	0.41448	-0.9508	10	0.51188	T	0.08	.	10.3379	0.43860	0.0:0.4245:0.4349:0.1406	.	674;674	Q02487;Q02487-2	DSC2_HUMAN;.	K	674;674;440;687	ENSP00000251081:E674K;ENSP00000280904:E674K	ENSP00000251081:E674K	E	-	1	0	DSC2	26905674	0.001000	0.12720	0.145000	0.22337	0.184000	0.23303	0.719000	0.25881	0.444000	0.26612	0.650000	0.86243	GAA	DSC2	-	smart_Cadherin,pfscan_Cadherin,prints_Desmocollin	ENSG00000134755		0.448	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	228	0.00	0	C	NM_004949		28651676	28651676	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	missense	126	43.11	97	SNP	0.001	T
DSC2	1824	genome.wustl.edu	37	18	28659854	28659854	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28659854T>G	ENST00000280904.6	-	11	2065	c.1622A>C	c.(1621-1623)aAa>aCa	p.K541T	DSC2_ENST00000251081.6_Missense_Mutation_p.K541T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	541	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATGCCATTTTTGATGGTCTC	0.378																																						dbGAP											0													194.0	194.0	194.0					18																	28659854		2203	4300	6503	-	-	-	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1622A>C	18.37:g.28659854T>G	ENSP00000280904:p.Lys541Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.K541T	ENST00000280904.6	37	c.1622	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	T	11.11	1.541983	0.27563	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.60920	0.15;0.15	5.55	-5.36	0.02689	Cadherin (4);Cadherin-like (1);	1.014100	0.07938	N	0.978750	T	0.57184	0.2036	M	0.79343	2.45	0.09310	N	1	P;P	0.40731	0.728;0.682	P;B	0.45119	0.47;0.339	T	0.58983	-0.7539	10	0.87932	D	0	.	5.0051	0.14284	0.1053:0.2127:0.1037:0.5783	.	541;541	Q02487;Q02487-2	DSC2_HUMAN;.	T	541;541;307;554	ENSP00000251081:K541T;ENSP00000280904:K541T	ENSP00000251081:K541T	K	-	2	0	DSC2	26913852	0.000000	0.05858	0.002000	0.10522	0.553000	0.35397	-2.181000	0.01257	-0.774000	0.04590	-1.194000	0.01681	AAA	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134755		0.378	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	415	0.00	0	T	NM_004949		28659854	28659854	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	missense	362	16.01	69	SNP	0.000	G
DSC3	1825	genome.wustl.edu	37	18	28588374	28588374	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28588374G>T	ENST00000360428.4	-	10	1461	c.1381C>A	c.(1381-1383)Cat>Aat	p.H461N	DSC3_ENST00000434452.1_Missense_Mutation_p.H461N	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	461	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCCTCACATGAACTGTAACC	0.463																																						dbGAP											0													109.0	100.0	103.0					18																	28588374		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1381C>A	18.37:g.28588374G>T	ENSP00000353608:p.His461Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin,pfscan_Cadherin	p.H461N	ENST00000360428.4	37	c.1381	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	G	0.157	-1.084925	0.01888	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.37235	1.21;1.21	5.34	1.33	0.21861	Cadherin (3);Cadherin-like (2);	0.801241	0.10158	N	0.708680	T	0.10121	0.0248	N	0.00605	-1.335	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.32402	-0.9908	10	0.08381	T	0.77	.	8.4546	0.32890	0.0772:0.0:0.3333:0.5895	.	461;461	Q14574;Q14574-2	DSC3_HUMAN;.	N	461	ENSP00000353608:H461N;ENSP00000392068:H461N	ENSP00000353608:H461N	H	-	1	0	DSC3	26842372	0.009000	0.17119	0.123000	0.21794	0.814000	0.46013	0.701000	0.25616	0.481000	0.27557	0.650000	0.86243	CAT	DSC3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134762		0.463	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	147	0.00	0	G	NM_001941, NM_024423		28588374	28588374	-1	no_errors	ENST00000360428	ensembl	human	known	69_37n	missense	97	19.83	24	SNP	0.030	T
DSC3	1825	genome.wustl.edu	37	18	28598154	28598154	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28598154A>T	ENST00000360428.4	-	9	1226	c.1146T>A	c.(1144-1146)gaT>gaA	p.D382E	DSC3_ENST00000434452.1_Missense_Mutation_p.D382E	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	382	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTAATTAAATCCTTATCTT	0.313																																						dbGAP											0													85.0	82.0	83.0					18																	28598154		2203	4293	6496	-	-	-	SO:0001583	missense	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1146T>A	18.37:g.28598154A>T	ENSP00000353608:p.Asp382Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin,pfscan_Cadherin	p.D382E	ENST00000360428.4	37	c.1146	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920113	0.73098	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.73789	-0.78;-0.78	5.36	3.01	0.34805	Cadherin (4);Cadherin-like (1);	0.534781	0.13958	N	0.351002	D	0.89770	0.6811	H	0.97852	4.09	0.45777	D	0.998668	D;D	0.67145	0.994;0.996	D;D	0.73708	0.981;0.933	D	0.87285	0.2295	10	0.87932	D	0	.	7.5921	0.28027	0.7592:0.0:0.2408:0.0	.	382;382	Q14574;Q14574-2	DSC3_HUMAN;.	E	382	ENSP00000353608:D382E;ENSP00000392068:D382E	ENSP00000353608:D382E	D	-	3	2	DSC3	26852152	0.821000	0.29204	1.000000	0.80357	0.957000	0.61999	1.041000	0.30291	0.507000	0.28148	0.472000	0.43445	GAT	DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000134762		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	295	0.00	0	A	NM_001941, NM_024423		28598154	28598154	-1	no_errors	ENST00000360428	ensembl	human	known	69_37n	missense	177	25.83	62	SNP	0.989	T
DSC2	1824	genome.wustl.edu	37	18	28672105	28672105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28672105C>A	ENST00000280904.6	-	3	756	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	DSC2_ENST00000251081.6_Nonsense_Mutation_p.E105*	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	105					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTTCTTTTCTTGGTTCTCA	0.323																																						dbGAP											0													88.0	89.0	89.0					18																	28672105		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.313G>T	18.37:g.28672105C>A	ENSP00000280904:p.Glu105*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin	p.E105*	ENST00000280904.6	37	c.313	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768650	0.90020	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	.	.	.	5.05	5.05	0.67936	.	0.000000	0.33364	N	0.004985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.5941	0.28037	0.0:0.7436:0.168:0.0884	.	.	.	.	X	105	.	ENSP00000251081:E105X	E	-	1	0	DSC2	26926103	0.260000	0.24053	0.544000	0.28141	0.931000	0.56810	1.475000	0.35409	2.530000	0.85305	0.455000	0.32223	GAA	DSC2	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000134755		0.323	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	222	0.45	1	C	NM_004949		28672105	28672105	-1	no_errors	ENST00000280904	ensembl	human	known	69_37n	nonsense	123	28.07	48	SNP	0.303	A
DSE	29940	genome.wustl.edu	37	6	116757777	116757777	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:116757777C>A	ENST00000331677.3	+	7	2590	c.2146C>A	c.(2146-2148)Cgt>Agt	p.R716S	DSE_ENST00000452085.3_Missense_Mutation_p.R716S|DSE_ENST00000537543.1_Missense_Mutation_p.R735S|DSE_ENST00000359564.2_Missense_Mutation_p.R716S			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	716					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CATTGCTGATCGTCACAAAAT	0.493																																						dbGAP											0													98.0	93.0	95.0					6																	116757777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2146C>A	6.37:g.116757777C>A	ENSP00000332151:p.Arg716Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.R735S	ENST00000331677.3	37	c.2203	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	C	8.725	0.915374	0.17907	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	6.06	6.06	0.98353	.	0.487731	0.26003	N	0.026928	T	0.44540	0.1298	L	0.51422	1.61	0.29005	N	0.887213	B;B	0.23990	0.095;0.095	B;B	0.22753	0.041;0.014	T	0.43621	-0.9380	10	0.62326	D	0.03	-2.6525	15.3675	0.74535	0.1394:0.8606:0.0:0.0	.	735;716	B7Z765;Q9UL01	.;DSE_HUMAN	S	716;735;716;716	ENSP00000404049:R716S;ENSP00000441152:R735S;ENSP00000332151:R716S;ENSP00000352567:R716S	ENSP00000332151:R716S	R	+	1	0	DSE	116864470	0.985000	0.35326	0.893000	0.35052	0.257000	0.26127	2.734000	0.47368	2.880000	0.98712	0.650000	0.86243	CGT	DSE	-	NULL	ENSG00000111817		0.493	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	52	0.00	0	C	NM_013352		116757777	116757777	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	missense	41	28.07	16	SNP	0.988	A
DSG1	1828	genome.wustl.edu	37	18	28906914	28906914	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28906914C>T	ENST00000257192.4	+	3	374	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.F54F(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGATCAAGTTCGCAGCAGCCT	0.393																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											121.0	116.0	118.0					18																	28906914		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.162C>T	18.37:g.28906914C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z845	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin	p.F54	ENST00000257192.4	37	c.162	CCDS11896.1	18																																																																																			DSG1	-	superfamily_Cadherin-like	ENSG00000134760		0.393	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	165	0.00	0	C	NM_001942		28906914	28906914	+1	no_errors	ENST00000257192	ensembl	human	known	69_37n	silent	112	23.29	34	SNP	0.656	T
DSG4	147409	genome.wustl.edu	37	18	28968333	28968333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:28968333C>T	ENST00000308128.4	+	4	355	c.220C>T	c.(220-222)Cga>Tga	p.R74*	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Nonsense_Mutation_p.R74*|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	74	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R74*(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATAGATTCGATCAGACTG	0.418																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											63.0	56.0	58.0					18																	28968333		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.220C>T	18.37:g.28968333C>T	ENSP00000311859:p.Arg74*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUI1|Q6Y9L9|Q8IXV4	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin,pfscan_Cadherin	p.R74*	ENST00000308128.4	37	c.220	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.336440	0.97485	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	.	.	.	5.73	4.84	0.62591	.	0.000000	0.30101	N	0.010401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	14.0555	0.64767	0.1557:0.8443:0.0:0.0	.	.	.	.	X	74	.	ENSP00000311859:R74X	R	+	1	2	DSG4	27222331	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.756000	0.55205	1.361000	0.45981	0.650000	0.86243	CGA	DSG4	-	pfam_Cadherin,smart_Cadherin	ENSG00000175065		0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	219	0.00	0	C	NM_177986		28968333	28968333	+1	no_errors	ENST00000359747	ensembl	human	known	69_37n	nonsense	101	30.82	45	SNP	1.000	T
DSEL	92126	genome.wustl.edu	37	18	65178587	65178587	+	Nonsense_Mutation	SNP	C	C	A	rs558529844		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:65178587C>A	ENST00000310045.7	-	2	4762	c.3289G>T	c.(3289-3291)Gaa>Taa	p.E1097*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1087					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTGATAATTCTTTCCTCAAT	0.378																																						dbGAP											0													66.0	63.0	64.0					18																	65178587		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3289G>T	18.37:g.65178587C>A	ENSP00000310565:p.Glu1097*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.E1097*	ENST00000310045.7	37	c.3289	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	51	17.734887	0.99892	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	4.79	4.79	0.61399	.	0.463959	0.19177	U	0.120790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-17.8962	18.2029	0.89844	0.0:1.0:0.0:0.0	.	.	.	.	X	1097;1087	.	ENSP00000310565:E1097X	E	-	1	0	DSEL	63329567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.065000	0.64344	2.356000	0.79943	0.563000	0.77884	GAA	DSEL	-	pfam_Sulfotransferase_dom	ENSG00000171451		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	67	0.00	0	C	NM_032160		65178587	65178587	-1	no_errors	ENST00000310045	ensembl	human	known	69_37n	nonsense	35	14.63	6	SNP	1.000	A
DSP	1832	genome.wustl.edu	37	6	7584869	7584869	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7584869G>T	ENST00000379802.3	+	24	7715	c.7374G>T	c.(7372-7374)aaG>aaT	p.K2458N	DSP_ENST00000418664.2_Missense_Mutation_p.K1859N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2458	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATCACAAAAGAATACCCTCA	0.418																																						dbGAP											0													111.0	118.0	116.0					6																	7584869		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7374G>T	6.37:g.7584869G>T	ENSP00000369129:p.Lys2458Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K2458N	ENST00000379802.3	37	c.7374	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549949	0.45383	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.75367	-0.63;-0.93	5.7	2.02	0.26589	.	0.000000	0.64402	D	0.000003	T	0.73853	0.3640	M	0.68317	2.08	0.24157	N	0.995676	D;D	0.76494	0.999;0.99	D;P	0.72625	0.978;0.903	T	0.67883	-0.5555	10	0.59425	D	0.04	.	9.7057	0.40214	0.3329:0.0:0.6671:0.0	.	1906;2458	Q4LE79;P15924	.;DESP_HUMAN	N	2458;1859	ENSP00000369129:K2458N;ENSP00000396591:K1859N	ENSP00000369129:K2458N	K	+	3	2	DSP	7529868	1.000000	0.71417	0.925000	0.36789	0.992000	0.81027	1.213000	0.32407	0.089000	0.17243	0.655000	0.94253	AAG	DSP	-	smart_Plectin_repeat	ENSG00000096696		0.418	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	252	0.00	0	G	NM_004415		7584869	7584869	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	167	13.47	26	SNP	0.965	T
DSP	1832	genome.wustl.edu	37	6	7585060	7585060	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7585060G>A	ENST00000379802.3	+	24	7906	c.7565G>A	c.(7564-7566)aGa>aAa	p.R2522K	DSP_ENST00000418664.2_Missense_Mutation_p.R1923K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2522	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGGTAGATAGAAAGACAGGC	0.468																																						dbGAP											0													118.0	107.0	111.0					6																	7585060		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7565G>A	6.37:g.7585060G>A	ENSP00000369129:p.Arg2522Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R2522K	ENST00000379802.3	37	c.7565	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580985	0.86748	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68765	-0.35;-0.35	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.73233	0.3561	L	0.54323	1.7	0.32573	N	0.529536	P;D	0.69078	0.714;0.997	B;D	0.72625	0.243;0.978	T	0.68473	-0.5399	10	0.30854	T	0.27	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	1970;2522	Q4LE79;P15924	.;DESP_HUMAN	K	2522;1923	ENSP00000369129:R2522K;ENSP00000396591:R1923K	ENSP00000369129:R2522K	R	+	2	0	DSP	7530059	1.000000	0.71417	0.997000	0.53966	0.746000	0.42486	8.004000	0.88535	2.746000	0.94184	0.655000	0.94253	AGA	DSP	-	smart_Plectin_repeat	ENSG00000096696		0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	126	0.00	0	G	NM_004415		7585060	7585060	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	56	27.85	22	SNP	1.000	A
DSP	1832	genome.wustl.edu	37	6	7585737	7585737	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7585737G>A	ENST00000379802.3	+	24	8583	c.8242G>A	c.(8242-8244)Gaa>Aaa	p.E2748K	DSP_ENST00000418664.2_Missense_Mutation_p.E2149K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2748	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATAAGCACCGAAGAAGCCAT	0.562																																						dbGAP											0													66.0	71.0	69.0					6																	7585737		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8242G>A	6.37:g.7585737G>A	ENSP00000369129:p.Glu2748Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E2748K	ENST00000379802.3	37	c.8242	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198940	0.58126	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76060	-0.99;-0.99	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000005	D	0.84606	0.5509	M	0.83774	2.66	0.41362	D	0.987434	D;D	0.76494	0.998;0.999	D;D	0.76575	0.944;0.988	T	0.80872	-0.1188	10	0.25106	T	0.35	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	2196;2748	Q4LE79;P15924	.;DESP_HUMAN	K	2748;2149	ENSP00000369129:E2748K;ENSP00000396591:E2149K	ENSP00000369129:E2748K	E	+	1	0	DSP	7530736	1.000000	0.71417	0.689000	0.30133	0.043000	0.13939	9.813000	0.99286	2.736000	0.93811	0.655000	0.94253	GAA	DSP	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000096696		0.562	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	46	0.00	0	G	NM_004415		7585737	7585737	+1	no_errors	ENST00000379802	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
DSPP	1834	genome.wustl.edu	37	4	88535003	88535003	+	Nonsense_Mutation	SNP	G	G	T	rs199906213		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:88535003G>T	ENST00000282478.7	+	4	1222	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Nonsense_Mutation_p.E397*			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	397					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAGGCAACGAAGGTAAAGA	0.428																																						dbGAP											0													121.0	112.0	115.0					4																	88535003		1926	4129	6055	-	-	-	SO:0001587	stop_gained	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1189G>T	4.37:g.88535003G>T	ENSP00000282478:p.Glu397*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUI0|O95815	Nonsense_Mutation	SNP	NULL	p.E397*	ENST00000282478.7	37	c.1189	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116029	0.77323	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	.	.	.	3.99	3.14	0.36123	.	1.385860	0.05351	N	0.531807	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.7927	7.3337	0.26596	0.123:0.0:0.877:0.0	.	.	.	.	X	397	.	ENSP00000282478:E397X	E	+	1	0	DSPP	88754027	0.255000	0.24002	0.003000	0.11579	0.011000	0.07611	2.740000	0.47418	0.863000	0.35553	0.446000	0.29264	GAA	DSPP	-	NULL	ENSG00000152591		0.428	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	226	0.00	0	G	NM_014208		88535003	88535003	+1	no_errors	ENST00000282478	ensembl	human	known	69_37n	nonsense	123	15.75	23	SNP	0.016	T
DST	667	genome.wustl.edu	37	6	56417926	56417926	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56417926C>T	ENST00000361203.3	-	57	15038	c.15031G>A	c.(15031-15033)Gta>Ata	p.V5011I	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.V2925I|DST_ENST00000370769.4_Missense_Mutation_p.V5013I|DST_ENST00000446842.2_Missense_Mutation_p.V4687I|DST_ENST00000370754.5_Missense_Mutation_p.V5191I|DST_ENST00000370788.2_Missense_Mutation_p.V2925I|DST_ENST00000244364.6_Missense_Mutation_p.V2599I			Q03001	DYST_HUMAN	dystonin	5011					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTAATTCTACCATACCAAAG	0.403																																						dbGAP											0													160.0	158.0	158.0					6																	56417926		1872	4119	5991	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15031G>A	6.37:g.56417926C>T	ENSP00000354508:p.Val5011Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.V5191I	ENST00000361203.3	37	c.15571		6	.	.	.	.	.	.	.	.	.	.	C	9.587	1.125165	0.20959	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.76	3.92	0.45320	.	0.310516	0.22616	N	0.057768	T	0.11537	0.0281	L	0.43152	1.355	0.23795	N	0.996824	B;B;B;B;B	0.34372	0.451;0.059;0.059;0.044;0.08	B;B;B;B;B	0.30179	0.112;0.059;0.059;0.014;0.036	T	0.08513	-1.0718	9	0.18276	T	0.48	.	8.6274	0.33897	0.0:0.7297:0.1354:0.135	.	2925;5013;5191;5011;2599	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	2599;5191;5013;2925;4687;2925;5011	ENSP00000244364:V2599I;ENSP00000359790:V5191I;ENSP00000359805:V5013I;ENSP00000400883:V2925I;ENSP00000393645:V4687I;ENSP00000359824:V2925I;ENSP00000354508:V5011I	ENSP00000244364:V2599I	V	-	1	0	DST	56525885	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	0.774000	0.26675	1.534000	0.49203	0.655000	0.94253	GTA	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	120	0.00	0	C	NM_001723		56417926	56417926	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56462687	56462687	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56462687C>T	ENST00000361203.3	-	43	11420	c.11413G>A	c.(11413-11415)Gaa>Aaa	p.E3805K	DST_ENST00000312431.6_Missense_Mutation_p.E3805K|DST_ENST00000421834.2_Missense_Mutation_p.E1719K|DST_ENST00000370769.4_Missense_Mutation_p.E3807K|DST_ENST00000446842.2_Missense_Mutation_p.E3481K|DST_ENST00000370754.5_Missense_Mutation_p.E3985K|DST_ENST00000370788.2_Missense_Mutation_p.E1719K|DST_ENST00000244364.6_Missense_Mutation_p.E1393K			Q03001	DYST_HUMAN	dystonin	3805					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGTTCTGTTCGATTACCTGT	0.433																																						dbGAP											0													229.0	210.0	216.0					6																	56462687		1942	4155	6097	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11413G>A	6.37:g.56462687C>T	ENSP00000354508:p.Glu3805Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E3985K	ENST00000361203.3	37	c.11953		6	.	.	.	.	.	.	.	.	.	.	C	8.285	0.816510	0.16607	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;D;T;T	0.81659	1.11;-0.01;-0.02;0.07;0.93;-1.52;0.05;-0.03	5.63	3.79	0.43588	.	0.000000	0.53938	D	0.000053	T	0.45577	0.1349	L	0.35288	1.05	0.27057	N	0.963656	B;P;P;B;B	0.43607	0.014;0.812;0.647;0.003;0.009	B;B;B;B;B	0.34652	0.001;0.153;0.187;0.001;0.009	T	0.36138	-0.9760	9	0.15952	T	0.53	.	7.4278	0.27109	0.0:0.6003:0.2653:0.1344	.	1719;3807;3985;3805;1393	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	1393;3985;3807;1719;3481;3805;1719;3805	ENSP00000244364:E1393K;ENSP00000359790:E3985K;ENSP00000359805:E3807K;ENSP00000400883:E1719K;ENSP00000393645:E3481K;ENSP00000307959:E3805K;ENSP00000359824:E1719K;ENSP00000354508:E3805K	ENSP00000244364:E1393K	E	-	1	0	DST	56570646	0.988000	0.35896	0.599000	0.28851	0.011000	0.07611	1.995000	0.40767	0.786000	0.33708	0.650000	0.86243	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	573	0.17	1	C	NM_001723		56462687	56462687	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	301	26.88	111	SNP	0.880	T
DST	667	genome.wustl.edu	37	6	56471488	56471488	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56471488C>A	ENST00000361203.3	-	36	7312	c.7305G>T	c.(7303-7305)gaG>gaT	p.E2435D	DST_ENST00000312431.6_Missense_Mutation_p.E2435D|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E2435D|DST_ENST00000446842.2_Missense_Mutation_p.E2109D|DST_ENST00000370754.5_Missense_Mutation_p.E2613D|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2435					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCATTTTCCTCTTGCAGTG	0.443																																						dbGAP											0													114.0	112.0	113.0					6																	56471488		1986	4171	6157	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7305G>T	6.37:g.56471488C>A	ENSP00000354508:p.Glu2435Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2613D	ENST00000361203.3	37	c.7839		6	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725778	0.48833	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82619	-0.15;-0.17;0.78;-1.63;-0.16;-0.43	4.98	1.96	0.26148	.	0.613787	0.14354	N	0.324884	T	0.65554	0.2702	.	.	.	0.26547	N	0.973971	D	0.54207	0.965	P	0.50970	0.655	T	0.56402	-0.7985	8	0.20046	T	0.44	.	3.3323	0.07089	0.1955:0.5069:0.0:0.2976	.	2109	Q03001-9	.	D	2613;2435;2109;2435;2435;2109	ENSP00000359790:E2613D;ENSP00000359805:E2435D;ENSP00000393645:E2109D;ENSP00000307959:E2435D;ENSP00000354508:E2435D;ENSP00000404924:E2109D	ENSP00000307959:E2435D	E	-	3	2	DST	56579447	0.008000	0.16893	0.639000	0.29394	0.038000	0.13279	0.092000	0.15066	0.691000	0.31592	0.305000	0.20034	GAG	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	75	0.00	0	C	NM_001723		56471488	56471488	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	53	27.40	20	SNP	0.034	A
DST	667	genome.wustl.edu	37	6	56472250	56472250	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56472250G>T	ENST00000361203.3	-	36	6550	c.6543C>A	c.(6541-6543)aaC>aaA	p.N2181K	DST_ENST00000312431.6_Missense_Mutation_p.N2181K|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.N2181K|DST_ENST00000446842.2_Missense_Mutation_p.N1855K|DST_ENST00000370754.5_Missense_Mutation_p.N2359K|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2181					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACTTGGAAAGTTTTGAATGT	0.303																																						dbGAP											0													57.0	48.0	51.0					6																	56472250		1809	4071	5880	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6543C>A	6.37:g.56472250G>T	ENSP00000354508:p.Asn2181Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.N2359K	ENST00000361203.3	37	c.7077		6	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698939	0.30142	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81821	-0.06;-0.07;0.87;-1.54;-0.09;-0.32	5.49	-0.25	0.13007	.	0.624861	0.14107	N	0.340977	T	0.57489	0.2057	.	.	.	0.24440	N	0.994536	B	0.33238	0.403	B	0.36418	0.224	T	0.44003	-0.9356	8	0.49607	T	0.09	.	7.9769	0.30159	0.6202:0.0:0.3798:0.0	.	1855	Q03001-9	.	K	2359;2181;1855;2181;2181;1855	ENSP00000359790:N2359K;ENSP00000359805:N2181K;ENSP00000393645:N1855K;ENSP00000307959:N2181K;ENSP00000354508:N2181K;ENSP00000404924:N1855K	ENSP00000307959:N2181K	N	-	3	2	DST	56580209	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.308000	0.19314	0.021000	0.15133	-0.251000	0.11542	AAC	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.303	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	106	0.00	0	G	NM_001723		56472250	56472250	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	94	12.96	14	SNP	0.000	T
DST	667	genome.wustl.edu	37	6	56472895	56472895	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56472895T>C	ENST00000361203.3	-	36	5905	c.5898A>G	c.(5896-5898)agA>agG	p.R1966R	DST_ENST00000312431.6_Silent_p.R1966R|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Silent_p.R1966R|DST_ENST00000446842.2_Silent_p.R1640R|DST_ENST00000370754.5_Silent_p.R2144R|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1966					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTCTTCTTGTCTGTAATCAT	0.328																																						dbGAP											0													63.0	64.0	64.0					6																	56472895		1822	4075	5897	-	-	-	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5898A>G	6.37:g.56472895T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R2144	ENST00000361203.3	37	c.6432		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	96	0.00	0	T	NM_001723		56472895	56472895	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	silent	62	19.48	15	SNP	0.016	C
DST	667	genome.wustl.edu	37	6	56473158	56473158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56473158C>A	ENST00000361203.3	-	36	5642	c.5635G>T	c.(5635-5637)Gaa>Taa	p.E1879*	DST_ENST00000312431.6_Nonsense_Mutation_p.E1879*|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.E1879*|DST_ENST00000446842.2_Nonsense_Mutation_p.E1553*|DST_ENST00000370754.5_Nonsense_Mutation_p.E2057*|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	1879					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTAATCAATTCTTGCTGCAAG	0.428																																						dbGAP											0													117.0	112.0	114.0					6																	56473158		1852	4095	5947	-	-	-	SO:0001587	stop_gained	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5635G>T	6.37:g.56473158C>A	ENSP00000354508:p.Glu1879*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2057*	ENST00000361203.3	37	c.6169		6	.	.	.	.	.	.	.	.	.	.	C	39	7.861890	0.98531	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	.	.	.	5.52	0.343	0.16001	.	0.236323	0.29053	N	0.013296	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	9.621	0.39721	0.0:0.6245:0.0:0.3755	.	.	.	.	X	2057;1879;1553;1879;1879;1553	.	ENSP00000307959:E1879X	E	-	1	0	DST	56581117	0.227000	0.23707	0.129000	0.21949	0.980000	0.70556	1.553000	0.36255	-0.023000	0.13963	0.455000	0.32223	GAA	DST	-	pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat	ENSG00000151914		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	124	0.00	0	C	NM_001723		56473158	56473158	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	nonsense	72	26.53	26	SNP	0.015	A
DST	667	genome.wustl.edu	37	6	56480436	56480436	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56480436C>A	ENST00000370765.6	-	24	7936	c.7829G>T	c.(7828-7830)aGa>aTa	p.R2610I	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1906					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCAACTTTCTTTTTGTCTG	0.363																																						dbGAP											0													112.0	116.0	115.0					6																	56480436		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7829G>T	6.37:g.56480436C>A	ENSP00000359801:p.Arg2610Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R2610I	ENST00000370765.6	37	c.7829	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980377	0.34942	.	.	ENSG00000151914	ENST00000370765	T	0.68025	-0.3	5.72	5.72	0.89469	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.09310	N	0.999998	D	0.53462	0.96	P	0.46110	0.504	T	0.66060	-0.6017	7	0.87932	D	0	.	10.012	0.41992	0.0:0.8455:0.0:0.1545	.	2610	Q03001-3	.	I	2610	ENSP00000359801:R2610I	ENSP00000359801:R2610I	R	-	2	0	DST	56588395	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.576000	0.46033	2.705000	0.92388	0.557000	0.71058	AGA	DST	-	smart_Plectin_repeat	ENSG00000151914		0.363	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	381	0.00	0	C	NM_001723		56480436	56480436	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	269	24.01	85	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56481789	56481789	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56481789C>A	ENST00000370765.6	-	24	6583	c.6476G>T	c.(6475-6477)aGa>aTa	p.R2159I	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1575					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTATGATTCTCTCGGCCGC	0.393																																						dbGAP											0													54.0	55.0	55.0					6																	56481789		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6476G>T	6.37:g.56481789C>A	ENSP00000359801:p.Arg2159Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R2159I	ENST00000370765.6	37	c.6476	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828370	0.32329	.	.	ENSG00000151914	ENST00000370765	T	0.70399	-0.48	5.77	4.64	0.57946	.	.	.	.	.	T	0.47135	0.1429	.	.	.	0.19300	N	0.999978	B	0.33857	0.429	B	0.37692	0.256	T	0.48387	-0.9040	7	0.45353	T	0.12	.	7.0809	0.25231	0.0:0.2813:0.0:0.7187	.	2159	Q03001-3	.	I	2159	ENSP00000359801:R2159I	ENSP00000359801:R2159I	R	-	2	0	DST	56589748	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.848000	0.27710	1.159000	0.42565	0.650000	0.86243	AGA	DST	-	smart_Plectin_repeat	ENSG00000151914		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	111	0.00	0	C	NM_001723		56481789	56481789	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56483314	56483314	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56483314G>A	ENST00000370765.6	-	23	5625	c.5518C>T	c.(5518-5520)Cgt>Tgt	p.R1840C	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6567					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R1840S(4)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCACGCTTCTGGGCT	0.413																																						dbGAP											4	Substitution - Missense(4)	lung(4)											145.0	139.0	141.0					6																	56483314		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5518C>T	6.37:g.56483314G>A	ENSP00000359801:p.Arg1840Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1840C	ENST00000370765.6	37	c.5518	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	2.020	-0.424894	0.04701	.	.	ENSG00000151914	ENST00000370765	T	0.12465	2.68	5.21	-0.487	0.12060	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.18873	N	0.999988	B	0.11235	0.004	B	0.04013	0.001	T	0.38090	-0.9677	7	0.56958	D	0.05	.	8.4578	0.32910	0.2468:0.0:0.6425:0.1107	.	1840	Q03001-3	.	C	1840	ENSP00000359801:R1840C	ENSP00000359801:R1840C	R	-	1	0	DST	56591273	0.000000	0.05858	0.013000	0.15412	0.153000	0.21895	0.229000	0.17833	0.021000	0.15133	-0.961000	0.02630	CGT	DST	-	NULL	ENSG00000151914		0.413	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	272	0.00	0	G	NM_001723		56483314	56483314	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	218	14.73	38	SNP	0.013	A
DST	667	genome.wustl.edu	37	6	56485103	56485103	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56485103C>T	ENST00000370765.6	-	23	3836	c.3729G>A	c.(3727-3729)gaG>gaA	p.E1243E	DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGTTTTCCTCCAACTGAT	0.418																																						dbGAP											0													81.0	85.0	84.0					6																	56485103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3729G>A	6.37:g.56485103C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1243	ENST00000370765.6	37	c.3729	CCDS4959.1	6																																																																																			DST	-	NULL	ENSG00000151914		0.418	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	178	0.00	0	C	NM_001723		56485103	56485103	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	silent	94	31.21	44	SNP	0.995	T
DST	667	genome.wustl.edu	37	6	56494134	56494134	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56494134T>C	ENST00000361203.3	-	28	3763	c.3756A>G	c.(3754-3756)gaA>gaG	p.E1252E	DST_ENST00000312431.6_Silent_p.E1252E|DST_ENST00000421834.2_Silent_p.E1252E|DST_ENST00000370769.4_Silent_p.E1252E|DST_ENST00000518935.1_Silent_p.E926E|DST_ENST00000446842.2_Silent_p.E926E|DST_ENST00000370754.5_Silent_p.E1430E|DST_ENST00000370788.2_Silent_p.E1252E|DST_ENST00000370765.6_Silent_p.E926E|DST_ENST00000244364.6_Silent_p.E926E			Q03001	DYST_HUMAN	dystonin	1252					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAAGGTCCCGTTCTTTATACG	0.378																																						dbGAP											0													248.0	213.0	225.0					6																	56494134		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3756A>G	6.37:g.56494134T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E1430	ENST00000361203.3	37	c.4290		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	467	0.00	0	T	NM_001723		56494134	56494134	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	silent	387	12.75	57	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56496739	56496739	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56496739C>T	ENST00000361203.3	-	25	3279	c.3272G>A	c.(3271-3273)cGa>cAa	p.R1091Q	DST_ENST00000312431.6_Missense_Mutation_p.R1091Q|DST_ENST00000421834.2_Missense_Mutation_p.R1091Q|DST_ENST00000370769.4_Missense_Mutation_p.R1091Q|DST_ENST00000518935.1_Missense_Mutation_p.R765Q|DST_ENST00000446842.2_Missense_Mutation_p.R765Q|DST_ENST00000370754.5_Missense_Mutation_p.R1269Q|DST_ENST00000370788.2_Missense_Mutation_p.R1091Q|DST_ENST00000370765.6_Missense_Mutation_p.R765Q|DST_ENST00000244364.6_Missense_Mutation_p.R765Q			Q03001	DYST_HUMAN	dystonin	1091					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGGGGAGTTCGAATCTGTCT	0.393																																						dbGAP											0													113.0	111.0	112.0					6																	56496739		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3272G>A	6.37:g.56496739C>T	ENSP00000354508:p.Arg1091Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R1269Q	ENST00000361203.3	37	c.3806		6	.	.	.	.	.	.	.	.	.	.	C	35	5.476202	0.96291	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;D;T;T;T;D;T;T	0.84589	0.93;-0.15;-0.17;-0.09;0.77;-1.65;-0.13;-0.18;-0.43;-1.87;-0.98;-0.26	5.84	5.84	0.93424	.	0.000000	0.42172	D	0.000745	D	0.86447	0.5935	L	0.39326	1.205	0.31725	N	0.637823	D;D;D;B;P;D;D;D	0.89917	1.0;0.999;1.0;0.414;0.709;0.997;1.0;0.998	D;D;D;B;B;P;D;P	0.80764	0.994;0.978;0.992;0.087;0.127;0.889;0.994;0.894	T	0.81219	-0.1032	9	0.16420	T	0.52	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	1091;1091;1269;765;765;765;1091;765	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Q	765;1269;1091;1091;765;1091;1091;1091;765;1131;765;765	ENSP00000244364:R765Q;ENSP00000359790:R1269Q;ENSP00000359805:R1091Q;ENSP00000400883:R1091Q;ENSP00000393645:R765Q;ENSP00000307959:R1091Q;ENSP00000359824:R1091Q;ENSP00000354508:R1091Q;ENSP00000404924:R765Q;ENSP00000431030:R1131Q;ENSP00000359801:R765Q;ENSP00000431003:R765Q	ENSP00000244364:R765Q	R	-	2	0	DST	56604698	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	CGA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	285	0.00	0	C	NM_001723		56496739	56496739	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	137	24.18	44	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56497760	56497760	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56497760C>A	ENST00000361203.3	-	24	3071	c.3064G>T	c.(3064-3066)Gat>Tat	p.D1022Y	DST_ENST00000312431.6_Missense_Mutation_p.D1022Y|DST_ENST00000421834.2_Missense_Mutation_p.D1022Y|DST_ENST00000370769.4_Missense_Mutation_p.D1022Y|DST_ENST00000518935.1_Missense_Mutation_p.D696Y|DST_ENST00000446842.2_Missense_Mutation_p.D696Y|DST_ENST00000370754.5_Missense_Mutation_p.D1200Y|DST_ENST00000370788.2_Missense_Mutation_p.D1022Y|DST_ENST00000370765.6_Missense_Mutation_p.D696Y|DST_ENST00000244364.6_Missense_Mutation_p.D696Y			Q03001	DYST_HUMAN	dystonin	1022					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGGCTATCTTCCAGAAAA	0.368																																						dbGAP											0													112.0	109.0	110.0					6																	56497760		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3064G>T	6.37:g.56497760C>A	ENSP00000354508:p.Asp1022Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D1200Y	ENST00000361203.3	37	c.3598		6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870441	0.91587	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000028	T	0.62551	0.2437	M	0.84683	2.71	0.37157	D	0.902431	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;0.999;1.0;1.0;0.998	D;D;D;D;D;D;D;D	0.85130	0.95;0.997;0.95;0.929;0.993;0.997;0.95;0.964	T	0.66488	-0.5911	9	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1022;1022;1200;696;696;696;1022;696	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Y	696;1200;1022;1022;696;1022;1022;1022;696;1062;696;696	ENSP00000244364:D696Y;ENSP00000359790:D1200Y;ENSP00000359805:D1022Y;ENSP00000400883:D1022Y;ENSP00000393645:D696Y;ENSP00000307959:D1022Y;ENSP00000359824:D1022Y;ENSP00000354508:D1022Y;ENSP00000404924:D696Y;ENSP00000431030:D1062Y;ENSP00000359801:D696Y;ENSP00000431003:D696Y	ENSP00000244364:D696Y	D	-	1	0	DST	56605719	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.427000	0.80284	2.861000	0.98227	0.655000	0.94253	GAT	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	224	0.00	0	C	NM_001723		56497760	56497760	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	136	15.53	25	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56504572	56504572	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56504572C>T	ENST00000361203.3	-	16	1994		c.e16-1		DST_ENST00000312431.6_Splice_Site|DST_ENST00000421834.2_Splice_Site|DST_ENST00000370769.4_Splice_Site|DST_ENST00000518935.1_Splice_Site|DST_ENST00000446842.2_Splice_Site|DST_ENST00000370754.5_Splice_Site|DST_ENST00000370788.2_Splice_Site|DST_ENST00000370765.6_Splice_Site|DST_ENST00000244364.6_Splice_Site			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTTGAATCTATAACATGA	0.328																																						dbGAP											0													86.0	96.0	92.0					6																	56504572		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1987-1G>A	6.37:g.56504572C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	-	e19-1	ENST00000361203.3	37	c.2521-1		6	.	.	.	.	.	.	.	.	.	.	.	16.22	3.062851	0.55432	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4283	0.94754	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DST	56612531	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.776000	0.68924	2.589000	0.87451	0.557000	0.71058	.	DST	-	-	ENSG00000151914		0.328	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	140	0.00	0	C	NM_001723	Intron	56504572	56504572	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	splice_site	110	13.39	17	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56505384	56505384	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:56505384C>T	ENST00000361203.3	-	14	1421	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	DST_ENST00000312431.6_Missense_Mutation_p.E472K|DST_ENST00000421834.2_Missense_Mutation_p.E472K|DST_ENST00000370769.4_Missense_Mutation_p.E472K|DST_ENST00000518935.1_Missense_Mutation_p.E146K|DST_ENST00000446842.2_Missense_Mutation_p.E146K|DST_ENST00000370754.5_Missense_Mutation_p.E650K|DST_ENST00000370788.2_Missense_Mutation_p.E472K|DST_ENST00000370765.6_Missense_Mutation_p.E146K|DST_ENST00000244364.6_Missense_Mutation_p.E146K			Q03001	DYST_HUMAN	dystonin	472					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E146K(3)|p.E650K(1)|p.E472K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCATAATTTCGTCACGCAGT	0.378																																						dbGAP											5	Substitution - Missense(5)	large_intestine(5)											75.0	75.0	75.0					6																	56505384		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1414G>A	6.37:g.56505384C>T	ENSP00000354508:p.Glu472Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E650K	ENST00000361203.3	37	c.1948		6	.	.	.	.	.	.	.	.	.	.	C	32	5.115045	0.94339	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.65	5.65	0.86999	.	0.106321	0.41294	D	0.000908	D	0.94663	0.8279	L	0.54323	1.7	0.33074	D	0.535711	P;P;D;P;D;P;D;D;P;B	0.76494	0.871;0.727;0.976;0.727;0.995;0.477;0.999;0.997;0.727;0.417	B;B;B;B;P;B;D;P;B;B	0.64042	0.053;0.078;0.27;0.078;0.749;0.054;0.921;0.858;0.078;0.07	D	0.92103	0.5690	9	0.30854	T	0.27	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	501;472;472;650;588;146;146;146;472;146	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	K	146;650;472;472;146;472;472;472;146;512;146;146;650	ENSP00000244364:E146K;ENSP00000359790:E650K;ENSP00000359805:E472K;ENSP00000400883:E472K;ENSP00000393645:E146K;ENSP00000307959:E472K;ENSP00000359824:E472K;ENSP00000354508:E472K;ENSP00000404924:E146K;ENSP00000431030:E512K;ENSP00000359801:E146K;ENSP00000431003:E146K;ENSP00000393082:E650K	ENSP00000244364:E146K	E	-	1	0	DST	56613343	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.500000	0.60387	2.941000	0.99782	0.655000	0.94253	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000151914		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	45	0.00	0	C	NM_001723		56505384	56505384	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	1.000	T
DTHD1	401124	genome.wustl.edu	37	4	36285694	36285694	+	5'UTR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:36285694T>G	ENST00000456874.2	+	0	51				DTHD1_ENST00000507598.1_Nonsense_Mutation_p.L38*|DTHD1_ENST00000357504.3_Intron	NM_001170700.2	NP_001164171.1	Q6ZMT9	DTHD1_HUMAN	death domain containing 1						signal transduction (GO:0007165)					breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|stomach(1)	8						ATTTGTAATTTATGCGGCATG	0.393																																						dbGAP											0													20.0	16.0	18.0					4																	36285694		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK094684	CCDS54754.1	4p14	2009-10-02			ENSG00000197057	ENSG00000197057			37261	protein-coding gene	gene with protein product							Standard	NM_001170700		Approved	FLJ16686	uc021xne.2	Q6ZMT9	OTTHUMG00000160371	ENST00000456874.2:c.-8T>G	4.37:g.36285694T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXK4|B4E2N7	Nonsense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,pfscan_Death	p.L38*	ENST00000456874.2	37	c.113	CCDS54754.1	4	.	.	.	.	.	.	.	.	.	.	T	38	6.697804	0.97772	.	.	ENSG00000197057	ENST00000507598	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7755	0.34758	0.0:0.0851:0.0:0.9149	.	.	.	.	X	38	.	ENSP00000424426:L38X	L	+	2	0	DTHD1	35962089	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.735000	0.47377	2.281000	0.76405	0.529000	0.55759	TTA	DTHD1	-	NULL	ENSG00000197057		0.393	DTHD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DTHD1	HGNC	protein_coding		39	0.00	0	T	NM_001136536		36285694	36285694	+1	no_errors	ENST00000507598	ensembl	human	novel	69_37n	nonsense	33	32.65	16	SNP	0.986	G
DTL	51514	genome.wustl.edu	37	1	212209203	212209203	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:212209203C>A	ENST00000366991.4	+	0	285				INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000469606.1_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000366994.3_5'Flank|DTL_ENST00000475419.1_3'UTR|INTS7_ENST00000366993.3_5'Flank|DTL_ENST00000542077.1_5'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)						cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TACGACTTTTCTCTCAGCTGA	0.552																																						dbGAP											0													88.0	75.0	80.0					1																	212209203		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.-30C>A	1.37:g.212209203C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	RNA	SNP	-	NULL	ENST00000366991.4	37	NULL	CCDS1502.1	1																																																																																			DTL	-	-	ENSG00000143476		0.552	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	111	0.00	0	C	NM_016448		212209203	212209203	+1	no_errors	ENST00000475419	ensembl	human	known	69_37n	rna	73	17.05	15	SNP	0.000	A
DTL	51514	genome.wustl.edu	37	1	212274365	212274365	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:212274365G>A	ENST00000366991.4	+	14	2347	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.R636Q	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	678					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCATCTCCACGAAGTCCGTCA	0.488																																						dbGAP											0													44.0	44.0	44.0					1																	212274365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.2033G>A	1.37:g.212274365G>A	ENSP00000355958:p.Arg678Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R678Q	ENST00000366991.4	37	c.2033	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822696	0.32237	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.70869	-0.45;-0.52	5.71	2.85	0.33270	.	0.644042	0.15763	N	0.245838	T	0.41328	0.1154	N	0.11201	0.11	0.09310	N	1	B;P;B	0.37525	0.325;0.598;0.218	B;B;B	0.21151	0.033;0.024;0.015	T	0.16247	-1.0409	10	0.27082	T	0.32	-6.8717	7.6962	0.28596	0.3204:0.0:0.6796:0.0	.	636;678;636	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	Q	678;636;357	ENSP00000355958:R678Q;ENSP00000443870:R636Q	ENSP00000355958:R678Q	R	+	2	0	DTL	210340988	0.540000	0.26410	0.994000	0.49952	0.987000	0.75469	2.252000	0.43196	0.783000	0.33636	0.655000	0.94253	CGA	DTL	-	NULL	ENSG00000143476		0.488	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	115	0.00	0	G	NM_016448		212274365	212274365	+1	no_errors	ENST00000366991	ensembl	human	known	69_37n	missense	58	46.96	54	SNP	0.003	A
DTNA	1837	genome.wustl.edu	37	18	32345995	32345995	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:32345995G>T	ENST00000399113.3	+	2	138	c.138G>T	c.(136-138)aaG>aaT	p.K46N	DTNA_ENST00000597599.1_Missense_Mutation_p.K46N|DTNA_ENST00000554864.3_Missense_Mutation_p.K46N|DTNA_ENST00000269191.6_Missense_Mutation_p.K46N|DTNA_ENST00000598774.1_Missense_Mutation_p.K46N|DTNA_ENST00000595022.1_Missense_Mutation_p.K46N|DTNA_ENST00000348997.5_Missense_Mutation_p.K46N|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598142.1_Missense_Mutation_p.K46N|DTNA_ENST00000399121.5_Missense_Mutation_p.K46N|DTNA_ENST00000315456.6_Missense_Mutation_p.K46N|DTNA_ENST00000283365.9_Missense_Mutation_p.K46N|DTNA_ENST00000596745.1_Missense_Mutation_p.K46N|DTNA_ENST00000598334.1_Missense_Mutation_p.K46N|DTNA_ENST00000269190.7_Missense_Mutation_p.K46N|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000444659.1_Missense_Mutation_p.K46N			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	46	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGTTCAGAAGAAATGCAATT	0.393																																						dbGAP											0													106.0	89.0	95.0					18																	32345995		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.138G>T	18.37:g.32345995G>T	ENSP00000382064:p.Lys46Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.K46N	ENST00000399113.3	37	c.138	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504064	0.85176	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	5.28	5.28	0.74379	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.975;1.0;0.999;0.999;1.0;0.999;0.999;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.987;0.998;0.996;0.995;0.999;0.996;0.995;1.0;0.999;0.999;0.978;0.998	D	0.91687	0.5363	10	0.87932	D	0	-23.221	15.8241	0.78683	0.0:0.0:1.0:0.0	.	46;46;46;46;46;46;46;57;46;46;46;46	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	N	46	ENSP00000283365:K46N;ENSP00000322519:K46N;ENSP00000269190:K46N;ENSP00000336682:K46N;ENSP00000382072:K46N;ENSP00000405819:K46N;ENSP00000269191:K46N;ENSP00000382064:K46N	ENSP00000269190:K46N	K	+	3	2	DTNA	30599993	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.623000	0.67757	2.470000	0.83445	0.557000	0.71058	AAG	DTNA	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin	ENSG00000134769		0.393	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	220	0.00	0	G	NM_001390		32345995	32345995	+1	no_errors	ENST00000269190	ensembl	human	known	69_37n	missense	106	29.33	44	SNP	1.000	T
DTNB	1838	genome.wustl.edu	37	2	25875532	25875532	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:25875532T>C	ENST00000406818.3	-	2	249		c.e2-2		DTNB_ENST00000407661.3_Splice_Site|DTNB_ENST00000404103.3_Splice_Site|DTNB_ENST00000405222.1_Splice_Site|DTNB_ENST00000496972.2_5'Flank|DTNB_ENST00000545439.1_Splice_Site|DTNB_ENST00000407186.1_Splice_Site|DTNB_ENST00000472690.1_5'Flank|DTNB_ENST00000288642.8_Splice_Site|DTNB_ENST00000407038.3_Splice_Site	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta							cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAATCATCCTAGAGACAAAG	0.418																																						dbGAP											0													161.0	151.0	154.0					2																	25875532		1918	4117	6035	-	-	-	SO:0001630	splice_region_variant	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1-2A>G	2.37:g.25875532T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Splice_Site	SNP	-	e1-2	ENST00000406818.3	37	c.1-2	CCDS46237.1	2																																																																																			DTNB	-	-	ENSG00000138101		0.418	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	327	0.30	1	T	NM_033147	Intron	25875532	25875532	-1	no_errors	ENST00000406818	ensembl	human	known	69_37n	splice_site	328	16.28	64	SNP	1.000	C
DTNBP1	84062	genome.wustl.edu	37	6	15615517	15615517	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:15615517T>C	ENST00000344537.5	-	6	641	c.469A>G	c.(469-471)Aat>Gat	p.N157D	DTNBP1_ENST00000355917.3_Missense_Mutation_p.N157D|DTNBP1_ENST00000338950.5_Missense_Mutation_p.N157D	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	157					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TTCTTGTAATTCTCCAGTTGC	0.393									Hermansky-Pudlak syndrome																													dbGAP											0													169.0	161.0	164.0					6																	15615517		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.469A>G	6.37:g.15615517T>C	ENSP00000341680:p.Asn157Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	pfam_Dysbindin,superfamily_PyrdxlP-dep_enz_bsu	p.N157D	ENST00000344537.5	37	c.469	CCDS4534.1	6	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972500	0.18736	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.30448	1.53;1.53;1.53	5.5	5.5	0.81552	.	0.303658	0.28198	N	0.016236	T	0.12944	0.0314	M	0.63428	1.95	0.29996	N	0.816465	B;B;B	0.11235	0.003;0.004;0.003	B;B;B	0.10450	0.005;0.005;0.002	T	0.17806	-1.0357	10	0.12103	T	0.63	.	10.7036	0.45942	0.0:0.0:0.16:0.84	.	157;157;157	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	D	157;157;76;122;157;157	ENSP00000341680:N157D;ENSP00000348183:N157D;ENSP00000344718:N157D	ENSP00000344718:N157D	N	-	1	0	DTNBP1	15723496	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.634000	0.37123	2.089000	0.63090	0.533000	0.62120	AAT	DTNBP1	-	NULL	ENSG00000047579		0.393	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DTNBP1	HGNC	protein_coding	OTTHUMT00000039933.2	360	0.00	0	T	NM_032122		15615517	15615517	-1	no_errors	ENST00000355917	ensembl	human	known	69_37n	missense	219	16.41	43	SNP	1.000	C
DTX3	196403	genome.wustl.edu	37	12	58000767	58000767	+	Missense_Mutation	SNP	C	C	T	rs542699703		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:58000767C>T	ENST00000548198.1	+	3	1625	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	DTX3_ENST00000337737.3_Missense_Mutation_p.R41W|DTX3_ENST00000551632.1_Missense_Mutation_p.R44W|DTX3_ENST00000548804.1_Missense_Mutation_p.R41W			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	41					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGCCCGGCTTCGGGAGGAGCA	0.602													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14014	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													133.0	147.0	142.0					12																	58000767		1934	4136	6070	-	-	-	SO:0001583	missense	0			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.121C>T	12.37:g.58000767C>T	ENSP00000447873:p.Arg41Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R44W	ENST00000548198.1	37	c.130	CCDS41800.1	12	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069367	0.36470	.	.	ENSG00000178498	ENST00000548804;ENST00000551835;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.50001	1.39;0.76;1.39;1.39;1.38;0.82	4.02	4.02	0.46733	.	0.354386	0.23773	N	0.044707	T	0.25494	0.0620	N	0.08118	0	0.34976	D	0.75362	B	0.09022	0.002	B	0.04013	0.001	T	0.22556	-1.0213	10	0.46703	T	0.11	-11.0779	8.0122	0.30359	0.0:0.8854:0.0:0.1146	.	41	Q8N9I9	DTX3_HUMAN	W	41;41;44;41;41;44;34	ENSP00000449294:R41W;ENSP00000449688:R44W;ENSP00000338050:R41W;ENSP00000447873:R41W;ENSP00000448696:R44W;ENSP00000448224:R34W	ENSP00000338050:R41W	R	+	1	2	DTX3	56287034	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.663000	0.37429	1.966000	0.57179	0.462000	0.41574	CGG	DTX3	-	NULL	ENSG00000178498		0.602	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	HGNC	protein_coding	OTTHUMT00000407848.1	136	0.00	0	C	NM_178502		58000767	58000767	+1	no_errors	ENST00000551632	ensembl	human	known	69_37n	missense	49	30.99	22	SNP	1.000	T
DTX3L	151636	genome.wustl.edu	37	3	122284753	122284753	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122284753G>A	ENST00000296161.4	+	2	424	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	DTX3L_ENST00000383661.3_Missense_Mutation_p.E79K|PARP9_ENST00000360356.2_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	79					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E79K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACTTGTTGACGAAAAACCTGT	0.393																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											116.0	109.0	112.0					3																	122284753		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.235G>A	3.37:g.122284753G>A	ENSP00000296161:p.Glu79Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E79K	ENST00000296161.4	37	c.235	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	7.082	0.570505	0.13560	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.41400	1.57;1.0	4.92	-7.95	0.01148	.	2.203020	0.01792	N	0.032369	T	0.30103	0.0754	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.16188	-1.0411	10	0.35671	T	0.21	-10.6967	16.6414	0.85128	0.2974:0.0:0.7026:0.0	.	79;79	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	K	79	ENSP00000296161:E79K;ENSP00000373157:E79K	ENSP00000296161:E79K	E	+	1	0	DTX3L	123767443	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.645000	0.02000	-2.110000	0.00837	-0.797000	0.03246	GAA	DTX3L	-	NULL	ENSG00000163840		0.393	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	192	0.00	0	G	NM_138287		122284753	122284753	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	missense	101	17.21	21	SNP	0.000	A
DTX3L	151636	genome.wustl.edu	37	3	122284766	122284766	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122284766C>A	ENST00000296161.4	+	2	437	c.248C>A	c.(247-249)cCc>cAc	p.P83H	DTX3L_ENST00000383661.3_Missense_Mutation_p.P83H|PARP9_ENST00000360356.2_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	83					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AAACCTGTGCCCATTTTCCTG	0.398																																						dbGAP											0													111.0	105.0	107.0					3																	122284766		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.248C>A	3.37:g.122284766C>A	ENSP00000296161:p.Pro83His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.P83H	ENST00000296161.4	37	c.248	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097763	0.37048	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.42131	1.58;0.98	4.92	1.69	0.24217	.	1.003990	0.08028	N	0.993092	T	0.33702	0.0872	L	0.40543	1.245	0.09310	N	1	P;P	0.48640	0.699;0.913	B;B	0.41202	0.35;0.339	T	0.20672	-1.0268	10	0.52906	T	0.07	-14.0127	7.1336	0.25515	0.1984:0.4639:0.3377:0.0	.	83;83	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	H	83	ENSP00000296161:P83H;ENSP00000373157:P83H	ENSP00000296161:P83H	P	+	2	0	DTX3L	123767456	0.004000	0.15560	0.009000	0.14445	0.175000	0.22909	-0.231000	0.09069	0.613000	0.30089	0.655000	0.94253	CCC	DTX3L	-	NULL	ENSG00000163840		0.398	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	193	0.00	0	C	NM_138287		122284766	122284766	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	missense	106	13.82	17	SNP	0.007	A
DTX3L	151636	genome.wustl.edu	37	3	122287715	122287715	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122287715G>T	ENST00000296161.4	+	3	968	c.779G>T	c.(778-780)aGa>aTa	p.R260I	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	260					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ATAGAGAAAAGATTTGGTGTA	0.373																																						dbGAP											0													36.0	39.0	38.0					3																	122287715		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.779G>T	3.37:g.122287715G>T	ENSP00000296161:p.Arg260Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R260I	ENST00000296161.4	37	c.779	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199260	0.58126	.	.	ENSG00000163840	ENST00000296161	T	0.34072	1.38	5.52	-8.31	0.01001	.	1.015930	0.07861	N	0.966331	T	0.29288	0.0729	L	0.47716	1.5	0.09310	N	1	P	0.47409	0.895	P	0.47470	0.548	T	0.30650	-0.9971	10	0.72032	D	0.01	-29.4723	3.8196	0.08830	0.5211:0.0864:0.2181:0.1744	.	260	Q8TDB6	DTX3L_HUMAN	I	260	ENSP00000296161:R260I	ENSP00000296161:R260I	R	+	2	0	DTX3L	123770405	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-1.835000	0.01692	-1.848000	0.01172	-0.244000	0.11960	AGA	DTX3L	-	NULL	ENSG00000163840		0.373	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	83	0.00	0	G	NM_138287		122287715	122287715	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	missense	42	37.31	25	SNP	0.000	T
DTX3L	151636	genome.wustl.edu	37	3	122287953	122287953	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122287953C>T	ENST00000296161.4	+	3	1206	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	339					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGAAAGGAGGCGAATTAACTC	0.388																																						dbGAP											0													92.0	104.0	100.0					3																	122287953		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1017C>T	3.37:g.122287953C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G339	ENST00000296161.4	37	c.1017	CCDS3015.1	3																																																																																			DTX3L	-	NULL	ENSG00000163840		0.388	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	111	0.00	0	C	NM_138287		122287953	122287953	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	silent	57	19.72	14	SNP	0.000	T
DUOX2	50506	genome.wustl.edu	37	15	45396387	45396387	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:45396387G>A	ENST00000603300.1	-	19	2713	c.2511C>T	c.(2509-2511)ggC>ggT	p.G837G	DUOX2_ENST00000389039.6_Silent_p.G837G	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	837	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGGACAGGTAGCCATTGCCAT	0.582																																						dbGAP											0													49.0	46.0	47.0					15																	45396387		2198	4295	6493	-	-	-	SO:0001819	synonymous_variant	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2511C>T	15.37:g.45396387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.G837	ENST00000603300.1	37	c.2511	CCDS10117.1	15																																																																																			DUOX2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	ENSG00000140279		0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		94	0.00	0	G	NM_014080		45396387	45396387	-1	no_errors	ENST00000389039	ensembl	human	known	69_37n	silent	52	34.18	27	SNP	0.998	A
DUOXA2	405753	genome.wustl.edu	37	15	45409845	45409845	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:45409845C>T	ENST00000323030.5	+	6	1054				DUOXA1_ENST00000430224.2_Silent_p.S395S|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Silent_p.S440S|DUOXA1_ENST00000559014.1_Silent_p.S440S	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ggccagagttcgagaccagcc	0.607																																						dbGAP											0													53.0	51.0	51.0					15																	45409845		2198	4298	6496	-	-	-	SO:0001627	intron_variant	0			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.770-69C>T	15.37:g.45409845C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPI9|H0YNQ6	Silent	SNP	pfam_Dual_oxidase_maturation_fac	p.S440	ENST00000323030.5	37	c.1320	CCDS10118.2	15																																																																																			DUOXA1	-	NULL	ENSG00000140254		0.607	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUOXA1	HGNC	protein_coding	OTTHUMT00000254142.1	31	0.00	0	C	NM_207581		45409845	45409845	-1	no_errors	ENST00000267803	ensembl	human	known	69_37n	silent	11	42.11	8	SNP	0.001	T
DUSP11	8446	genome.wustl.edu	37	2	74000985	74000985	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74000985C>T	ENST00000272444.3	-	4	557	c.516G>A	c.(514-516)gaG>gaA	p.E172E	DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000443070.1_Silent_p.E172E|DUSP11_ENST00000377706.4_Silent_p.E125E	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	125	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.E125D(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TAAAAATAGTCTCATCATCAG	0.308																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											98.0	107.0	104.0					2																	74000985		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.516G>A	2.37:g.74000985C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCT8|Q6AI47|Q9BWE3	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase	p.E172	ENST00000272444.3	37	c.516	CCDS1928.2	2																																																																																			DUSP11	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat	ENSG00000144048		0.308	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP11	HGNC	protein_coding	OTTHUMT00000252047.3	167	0.00	0	C			74000985	74000985	-1	no_errors	ENST00000272444	ensembl	human	known	69_37n	silent	98	18.33	22	SNP	1.000	T
DUSP18	150290	genome.wustl.edu	37	22	31059441	31059441	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:31059441A>C	ENST00000334679.3	-	2	1055	c.550T>G	c.(550-552)Ttg>Gtg	p.L184V	DUSP18_ENST00000404885.1_Missense_Mutation_p.L184V|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000407308.1_Missense_Mutation_p.L184V	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	184					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						GGAATCATCAAACGGACTTCC	0.463																																						dbGAP											0													89.0	86.0	87.0					22																	31059441		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.550T>G	22.37:g.31059441A>C	ENSP00000333917:p.Leu184Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPA4	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP	p.L184V	ENST00000334679.3	37	c.550	CCDS13883.1	22	.	.	.	.	.	.	.	.	.	.	A	1.791	-0.479602	0.04383	.	.	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679	T;T;T	0.03301	3.98;3.98;3.98	5.11	-1.28	0.09318	.	0.961229	0.08642	N	0.915325	T	0.02610	0.0079	L	0.41027	1.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.49952	-0.8884	10	0.12430	T	0.62	.	0.7941	0.01063	0.2435:0.1555:0.3305:0.2705	.	184	Q8NEJ0	DUS18_HUMAN	V	184	ENSP00000385463:L184V;ENSP00000386063:L184V;ENSP00000333917:L184V	ENSP00000333917:L184V	L	-	1	2	DUSP18	29389441	0.000000	0.05858	0.039000	0.18376	0.489000	0.33432	-0.042000	0.12063	-0.012000	0.14223	0.533000	0.62120	TTG	DUSP18	-	NULL	ENSG00000167065		0.463	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP18	HGNC	protein_coding	OTTHUMT00000321400.1	131	0.00	0	A			31059441	31059441	-1	no_errors	ENST00000334679	ensembl	human	known	69_37n	missense	75	33.04	37	SNP	0.001	C
DUSP19	142679	genome.wustl.edu	37	2	183951780	183951780	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:183951780C>A	ENST00000354221.4	+	3	461	c.286C>A	c.(286-288)Ctt>Att	p.L96I	DUSP19_ENST00000342619.6_Intron|AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_Intron	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	96					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GACTCATATTCTTAATGTTGC	0.328																																						dbGAP											0													98.0	98.0	98.0					2																	183951780		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.286C>A	2.37:g.183951780C>A	ENSP00000346160:p.Leu96Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	p.L96I	ENST00000354221.4	37	c.286	CCDS2289.1	2	.	.	.	.	.	.	.	.	.	.	c	17.83	3.485043	0.63962	.	.	ENSG00000162999	ENST00000354221	T	0.60171	0.21	5.38	5.38	0.77491	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	L	0.58354	1.805	0.51482	D	0.999923	D	0.65815	0.995	D	0.73380	0.98	T	0.69989	-0.4995	10	0.52906	T	0.07	.	11.0497	0.47880	0.0:0.8555:0.0:0.1445	.	96	Q8WTR2	DUS19_HUMAN	I	96	ENSP00000346160:L96I	ENSP00000346160:L96I	L	+	1	0	DUSP19	183660025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.745000	0.38278	2.674000	0.91012	0.651000	0.88453	CTT	DUSP19	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	ENSG00000162999		0.328	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP19	HGNC	protein_coding	OTTHUMT00000255866.1	476	0.00	0	C			183951780	183951780	+1	no_errors	ENST00000354221	ensembl	human	known	69_37n	missense	311	25.06	104	SNP	1.000	A
DUSP26	78986	genome.wustl.edu	37	8	33451073	33451073	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:33451073G>A	ENST00000256261.4	-	3	931	c.414C>T	c.(412-414)caC>caT	p.H138H	DUSP26_ENST00000523956.1_Silent_p.H138H	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	138	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TCAGCGCCCGGTGGATGAAGT	0.612																																						dbGAP											0													47.0	43.0	44.0					8																	33451073		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.414C>T	8.37:g.33451073G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSV8|Q9BTW0	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.H138	ENST00000256261.4	37	c.414	CCDS6092.1	8																																																																																			DUSP26	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	ENSG00000133878		0.612	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	55	0.00	0	G	NM_024025		33451073	33451073	-1	no_errors	ENST00000256261	ensembl	human	known	69_37n	silent	42	23.64	13	SNP	1.000	A
DUT	1854	genome.wustl.edu	37	15	48633727	48633727	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:48633727G>A	ENST00000331200.3	+	6	740	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	DUT_ENST00000558813.1_Missense_Mutation_p.R105Q|DUT_ENST00000559416.1_Missense_Mutation_p.R131Q|DUT_ENST00000455976.2_Missense_Mutation_p.R128Q|DUT_ENST00000559540.1_3'UTR	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	216					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		AAAGGTGATCGAATTGCACAG	0.318								Modulation of nucleotide pools																														dbGAP											0													45.0	41.0	42.0					15																	48633727		2197	4296	6493	-	-	-	SO:0001583	missense	0			M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.647G>A	15.37:g.48633727G>A	ENSP00000370376:p.Arg216Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Missense_Mutation	SNP	pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf	p.R216Q	ENST00000331200.3	37	c.647	CCDS32231.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.086206	0.94100	.	.	ENSG00000128951	ENST00000331200;ENST00000450740;ENST00000249783;ENST00000455976	T;T	0.63913	-0.07;0.22	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	H	0.99949	5.025	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.72625	0.868;0.978	D	0.94976	0.8121	10	0.87932	D	0	.	17.9227	0.88972	0.0:0.0:1.0:0.0	.	128;216	P33316-2;P33316	.;DUT_HUMAN	Q	216;105;214;128	ENSP00000370376:R216Q;ENSP00000405160:R128Q	ENSP00000249783:R214Q	R	+	2	0	DUT	46421019	0.998000	0.40836	0.994000	0.49952	0.821000	0.46438	6.113000	0.71553	2.518000	0.84900	0.655000	0.94253	CGA	DUT	-	pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf	ENSG00000128951		0.318	DUT-001	KNOWN	basic|CCDS	protein_coding	DUT	HGNC	protein_coding	OTTHUMT00000417142.2	189	0.00	0	G			48633727	48633727	+1	no_errors	ENST00000331200	ensembl	human	known	69_37n	missense	88	33.83	45	SNP	1.000	A
DYM	54808	genome.wustl.edu	37	18	46812897	46812897	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:46812897G>T	ENST00000269445.6	-	9	1310	c.853C>A	c.(853-855)Ctc>Atc	p.L285I	DYM_ENST00000442713.2_Missense_Mutation_p.L95I	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	285					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGAAGCAGGAGACTCTGGTTG	0.547																																						dbGAP											0													75.0	81.0	79.0					18																	46812897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.853C>A	18.37:g.46812897G>T	ENSP00000269445:p.Leu285Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.L285I	ENST00000269445.6	37	c.853	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999146	0.54147	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.85088	-1.94;-1.94	5.81	4.88	0.63580	.	0.054770	0.85682	D	0.000000	D	0.90082	0.6902	M	0.66439	2.03	0.80722	D	1	D;B;D	0.63046	0.974;0.114;0.992	P;B;P	0.61070	0.742;0.186;0.883	D	0.89754	0.3942	10	0.48119	T	0.1	-17.3646	16.3802	0.83458	0.0:0.1316:0.8684:0.0	.	95;107;285	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	I	95;285	ENSP00000395942:L95I;ENSP00000269445:L285I	ENSP00000269445:L285I	L	-	1	0	DYM	45066895	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.605000	0.74155	2.747000	0.94245	0.650000	0.86243	CTC	DYM	-	pfam_Dymeclin	ENSG00000141627		0.547	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	127	0.00	0	G	NM_017653		46812897	46812897	-1	no_errors	ENST00000269445	ensembl	human	known	69_37n	missense	94	13.76	15	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103048454	103048454	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:103048454G>A	ENST00000375735.2	+	38	6188	c.6044G>A	c.(6043-6045)cGa>cAa	p.R2015Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R2015Q|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2015	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTATGCCTCGATATCAATTA	0.418																																						dbGAP											0													123.0	119.0	121.0					11																	103048454		1903	4110	6013	-	-	-	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6044G>A	11.37:g.103048454G>A	ENSP00000364887:p.Arg2015Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R2015Q	ENST00000375735.2	37	c.6044	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746521	0.89663	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	D;D	0.86366	-2.11;-2.11	5.53	3.6	0.41247	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	.	.	.	.	D	0.90280	0.6960	L	0.54965	1.715	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.97	D	0.88451	0.3049	9	0.45353	T	0.12	.	10.8653	0.46851	0.1587:0.0:0.8413:0.0	.	2015;2015	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Q	2015	ENSP00000364887:R2015Q;ENSP00000381167:R2015Q	ENSP00000364887:R2015Q	R	+	2	0	DYNC2H1	102553664	1.000000	0.71417	0.915000	0.36163	0.985000	0.73830	6.747000	0.74872	0.647000	0.30713	0.650000	0.86243	CGA	DYNC2H1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000187240		0.418	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	266	0.37	1	G	XM_370652		103048454	103048454	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	191	13.57	30	SNP	0.986	A
DYNC2LI1	51626	genome.wustl.edu	37	2	44032369	44032369	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:44032369G>A	ENST00000260605.8	+	12	1077	c.977G>A	c.(976-978)aGa>aAa	p.R326K	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R327K|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R200K	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	326					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATGAGATGAGAATTCAGAAG	0.358																																						dbGAP											0													83.0	87.0	86.0					2																	44032369		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.977G>A	2.37:g.44032369G>A	ENSP00000260605:p.Arg326Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.R326K	ENST00000260605.8	37	c.977	CCDS1813.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.220988|4.220988	0.79464|0.79464	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000378587|ENST00000260605;ENST00000443170	.|T;T	.|0.27256	.|1.68;1.68	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50786|0.50786	0.1636|0.1636	M|M	0.83774|0.83774	2.66|2.66	0.52501|0.52501	D|D	0.99995|0.99995	.|D;P;D	.|0.54207	.|0.965;0.941;0.965	.|P;P;P	.|0.58391	.|0.791;0.622;0.838	T|T	0.51084|0.51084	-0.8750|-0.8750	5|10	.|0.38643	.|T	.|0.18	-26.9992|-26.9992	18.1849|18.1849	0.89790|0.89790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;326;326	.|Q8TCX1-2;Q8TCX1;Q8TCX1-3	.|.;DC2L1_HUMAN;.	K|K	310|326;200	.|ENSP00000260605:R326K;ENSP00000388941:R200K	.|ENSP00000260605:R326K	E|R	+|+	1|2	0|0	DYNC2LI1|DYNC2LI1	43885873|43885873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.811000|0.811000	0.45836|0.45836	7.010000|7.010000	0.76353|0.76353	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAA|AGA	DYNC2LI1	-	NULL	ENSG00000138036		0.358	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYNC2LI1	HGNC	protein_coding	OTTHUMT00000250536.2	325	0.00	0	G	NM_016008		44032369	44032369	+1	no_errors	ENST00000260605	ensembl	human	known	69_37n	missense	152	15.56	28	SNP	1.000	A
DYSF	8291	genome.wustl.edu	37	2	71788904	71788904	+	Nonsense_Mutation	SNP	G	G	T	rs369209261		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71788904G>T	ENST00000258104.3	+	23	2462	c.2185G>T	c.(2185-2187)Gag>Tag	p.E729*	DYSF_ENST00000394120.2_Nonsense_Mutation_p.E730*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E730*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E729*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E761*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E747*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E746*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E747*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E716*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E746*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E760*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	729					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGACATCCATGAGACACCCTC	0.622																																						dbGAP											0													144.0	114.0	124.0					2																	71788904		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2185G>T	2.37:g.71788904G>T	ENSP00000258104:p.Glu729*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.E760*	ENST00000258104.3	37	c.2278	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.253297	0.99115	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.07	3.26	0.37387	.	0.386630	0.29119	N	0.013093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-16.5811	3.57	0.07913	0.0955:0.1894:0.5586:0.1565	.	.	.	.	X	760;746;746;729;729;761;730;716;730;747;747	.	ENSP00000258104:E729X	E	+	1	0	DYSF	71642412	0.056000	0.20664	0.032000	0.17829	0.505000	0.33919	0.959000	0.29240	0.530000	0.28619	0.561000	0.74099	GAG	DYSF	-	pfam_Ferlin_A-domain	ENSG00000135636		0.622	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	154	0.00	0	G	NM_003494		71788904	71788904	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	nonsense	68	32.00	32	SNP	0.005	T
DYSF	8291	genome.wustl.edu	37	2	71838387	71838387	+	Missense_Mutation	SNP	G	G	T	rs149023297		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71838387G>T	ENST00000258104.3	+	37	4193	c.3916G>T	c.(3916-3918)Gac>Tac	p.D1306Y	DYSF_ENST00000394120.2_Missense_Mutation_p.D1307Y|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.D1307Y|DYSF_ENST00000429174.2_Missense_Mutation_p.D1306Y|DYSF_ENST00000409651.1_Missense_Mutation_p.D1338Y|DYSF_ENST00000410020.3_Missense_Mutation_p.D1324Y|DYSF_ENST00000409582.3_Missense_Mutation_p.D1323Y|DYSF_ENST00000410041.1_Missense_Mutation_p.D1324Y|DYSF_ENST00000409744.1_Missense_Mutation_p.D1293Y|DYSF_ENST00000409762.1_Missense_Mutation_p.D1323Y|DYSF_ENST00000413539.2_Missense_Mutation_p.D1337Y	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1306					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAGGACACAGACCTGCCCTA	0.552																																						dbGAP											0													68.0	58.0	61.0					2																	71838387		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3916G>T	2.37:g.71838387G>T	ENSP00000258104:p.Asp1306Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.D1337Y	ENST00000258104.3	37	c.4009	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384795	0.82792	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84370	-1.81;-1.81;-1.84;-1.84;-1.81;-1.81;-1.81;-1.84;-1.84;-1.84;-1.81	4.59	4.59	0.56863	.	0.105785	0.64402	D	0.000005	D	0.91593	0.7344	M	0.84585	2.705	0.80722	D	1	P;P;P;P;P;P;P;P;B;P;P;B;P;P;P	0.47962	0.72;0.903;0.813;0.813;0.813;0.676;0.676;0.676;0.204;0.813;0.676;0.344;0.719;0.903;0.597	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.57846	0.738;0.828;0.776;0.674;0.674;0.776;0.575;0.674;0.473;0.674;0.736;0.473;0.741;0.741;0.555	D	0.92676	0.6154	10	0.59425	D	0.04	-30.3114	15.2507	0.73542	0.0:0.0:1.0:0.0	.	49;1338;1324;1307;1293;1324;1293;1323;1292;1337;1323;1306;1292;1307;1306	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	Y	1337;1323;1323;1306;1306;1338;1307;1293;1307;1324;1324	ENSP00000407046:D1337Y;ENSP00000387137:D1323Y;ENSP00000386547:D1323Y;ENSP00000398305:D1306Y;ENSP00000258104:D1306Y;ENSP00000386683:D1338Y;ENSP00000377678:D1307Y;ENSP00000386285:D1293Y;ENSP00000386512:D1307Y;ENSP00000386881:D1324Y;ENSP00000386617:D1324Y	ENSP00000258104:D1306Y	D	+	1	0	DYSF	71691895	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.686000	0.61700	2.286000	0.76751	0.561000	0.74099	GAC	DYSF	-	NULL	ENSG00000135636		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	88	0.00	0	G	NM_003494		71838387	71838387	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	84	24.78	28	SNP	1.000	T
DYSF	8291	genome.wustl.edu	37	2	71847720	71847720	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71847720C>A	ENST00000258104.3	+	40	4687				DYSF_ENST00000394120.2_Intron|DYSF_ENST00000479049.2_Intron|DYSF_ENST00000409366.1_Missense_Mutation_p.S1486Y|DYSF_ENST00000429174.2_Missense_Mutation_p.S1485Y|DYSF_ENST00000409651.1_Intron|DYSF_ENST00000410020.3_Missense_Mutation_p.S1503Y|DYSF_ENST00000409582.3_Missense_Mutation_p.S1502Y|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000409744.1_Missense_Mutation_p.S1472Y|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000413539.2_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AACACGGCTTCTCCTCCATCC	0.517																																						dbGAP											0													171.0	139.0	149.0					2																	71847720		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4410+7180C>A	2.37:g.71847720C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.S1485Y	ENST00000258104.3	37	c.4454	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333138	0.41297	.	.	ENSG00000135636	ENST00000409582;ENST00000429174;ENST00000409744;ENST00000409366;ENST00000410020	D;D;D;D;D	0.83335	-1.71;-1.7;-1.7;-1.7;-1.71	4.61	4.61	0.57282	.	.	.	.	.	T	0.77157	0.4089	L	0.29908	0.895	0.80722	D	1	P;P;P;P;B;B;B	0.42078	0.77;0.696;0.504;0.471;0.145;0.113;0.178	B;B;B;B;B;B;B	0.43251	0.197;0.413;0.237;0.323;0.077;0.191;0.151	T	0.79286	-0.1866	9	0.56958	D	0.05	.	13.1327	0.59391	0.0:1.0:0.0:0.0	.	228;1503;1486;1472;1471;1502;1485	B7Z8G4;O75923-13;O75923-10;O75923-12;O75923-6;O75923-7;O75923-4	.;.;.;.;.;.;.	Y	1502;1485;1472;1486;1503	ENSP00000386547:S1502Y;ENSP00000398305:S1485Y;ENSP00000386285:S1472Y;ENSP00000386512:S1486Y;ENSP00000386881:S1503Y	ENSP00000386512:S1486Y	S	+	2	0	DYSF	71701228	0.999000	0.42202	0.949000	0.38748	0.757000	0.42996	1.702000	0.37836	2.571000	0.86741	0.478000	0.44815	TCT	DYSF	-	NULL	ENSG00000135636		0.517	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	164	0.00	0	C	NM_003494		71847720	71847720	+1	no_errors	ENST00000429174	ensembl	human	known	69_37n	missense	110	12.50	16	SNP	0.978	A
DYSF	8291	genome.wustl.edu	37	2	71894639	71894639	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71894639C>T	ENST00000258104.3	+	47	5611	c.5334C>T	c.(5332-5334)atC>atT	p.I1778I	DYSF_ENST00000394120.2_Silent_p.I1779I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.I1800I|DYSF_ENST00000429174.2_Silent_p.I1799I|DYSF_ENST00000409651.1_Silent_p.I1810I|DYSF_ENST00000410020.3_Silent_p.I1817I|DYSF_ENST00000409582.3_Silent_p.I1816I|DYSF_ENST00000410041.1_Silent_p.I1796I|DYSF_ENST00000409744.1_Silent_p.I1786I|DYSF_ENST00000409762.1_Silent_p.I1795I|DYSF_ENST00000413539.2_Silent_p.I1809I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1778					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCAGACATCGAGCAGGTAG	0.632																																						dbGAP											0													45.0	44.0	44.0					2																	71894639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5334C>T	2.37:g.71894639C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.I1809	ENST00000258104.3	37	c.5427	CCDS1918.1	2																																																																																			DYSF	-	NULL	ENSG00000135636		0.632	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	100	0.00	0	C	NM_003494		71894639	71894639	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	silent	100	12.28	14	SNP	0.002	T
DZIP1	22873	genome.wustl.edu	37	13	96236930	96236930	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:96236930G>T	ENST00000376829.2	-	22	3376				DZIP1_ENST00000347108.3_Intron|DZIP1_ENST00000361396.2_Intron|DZIP1_ENST00000361156.3_Intron	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1						cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TATTTATAAAGATGAAACACA	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2524+59C>A	13.37:g.96236930G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	RNA	SNP	-	NULL	ENST00000376829.2	37	NULL	CCDS9478.1	13																																																																																			DZIP1	-	-	ENSG00000134874		0.358	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	HGNC	protein_coding	OTTHUMT00000045496.3	123	0.00	0	G	NM_014934		96236930	96236930	-1	no_errors	ENST00000479518	ensembl	human	known	69_37n	rna	69	34.29	36	SNP	0.001	T
DZIP3	9666	genome.wustl.edu	37	3	108388553	108388553	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:108388553G>T	ENST00000361582.3	+	22	2679	c.2449G>T	c.(2449-2451)Gat>Tat	p.D817Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.D817Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	817					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCATGCTAAAGATAATGAAAT	0.338																																						dbGAP											0													118.0	113.0	114.0					3																	108388553		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2449G>T	3.37:g.108388553G>T	ENSP00000355028:p.Asp817Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D817Y	ENST00000361582.3	37	c.2449	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458860	0.63401	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84370	-1.84;-1.84	5.21	4.32	0.51571	.	0.000000	0.51477	D	0.000099	D	0.89083	0.6614	L	0.50333	1.59	0.31877	N	0.619012	D;D	0.71674	0.994;0.998	P;D	0.77557	0.864;0.99	D	0.89751	0.3940	10	0.87932	D	0	-11.4807	11.612	0.51066	0.0:0.1789:0.8211:0.0	.	435;817	D3DN61;Q86Y13	.;DZIP3_HUMAN	Y	817	ENSP00000355028:D817Y;ENSP00000419981:D817Y	ENSP00000355028:D817Y	D	+	1	0	DZIP3	109871243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.235000	0.58666	1.397000	0.46682	0.650000	0.86243	GAT	DZIP3	-	NULL	ENSG00000198919		0.338	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	562	0.00	0	G	NM_014648		108388553	108388553	+1	no_errors	ENST00000361582	ensembl	human	known	69_37n	missense	378	14.67	65	SNP	1.000	T
DZIP3	9666	genome.wustl.edu	37	3	108388567	108388567	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:108388567G>T	ENST00000361582.3	+	22	2693	c.2463G>T	c.(2461-2463)aaG>aaT	p.K821N	DZIP3_ENST00000463306.1_Missense_Mutation_p.K821N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	821					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATGAAATCAAGAACCTTAAAG	0.353																																						dbGAP											0													114.0	110.0	112.0					3																	108388567		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2463G>T	3.37:g.108388567G>T	ENSP00000355028:p.Lys821Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K821N	ENST00000361582.3	37	c.2463	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776552	0.70107	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84442	-1.85;-1.85	5.21	4.33	0.51752	.	0.249655	0.28538	N	0.014982	T	0.80919	0.4716	L	0.44542	1.39	0.29204	N	0.875	P;P	0.52842	0.9;0.956	B;P	0.46796	0.382;0.527	T	0.74523	-0.3637	10	0.28530	T	0.3	-6.3809	9.4522	0.38734	0.0954:0.0:0.9046:0.0	.	439;821	D3DN61;Q86Y13	.;DZIP3_HUMAN	N	821	ENSP00000355028:K821N;ENSP00000419981:K821N	ENSP00000355028:K821N	K	+	3	2	DZIP3	109871257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.936000	0.40183	1.409000	0.46915	0.650000	0.86243	AAG	DZIP3	-	NULL	ENSG00000198919		0.353	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	582	0.17	1	G	NM_014648		108388567	108388567	+1	no_errors	ENST00000361582	ensembl	human	known	69_37n	missense	375	13.99	61	SNP	1.000	T
E2F3	1871	genome.wustl.edu	37	6	20490441	20490441	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:20490441C>A	ENST00000346618.3	+	7	1244	c.1178C>A	c.(1177-1179)tCt>tAt	p.S393Y	E2F3_ENST00000535432.1_Missense_Mutation_p.S262Y	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	393	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TGCTCAGTTTCTATGGGAAAC	0.408																																						dbGAP											0													73.0	72.0	73.0					6																	20490441		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1178C>A	6.37:g.20490441C>A	ENSP00000262904:p.Ser393Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.S393Y	ENST00000346618.3	37	c.1178	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195100	0.38806	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	T;T	0.08282	3.11;3.15	5.49	5.49	0.81192	.	0.526840	0.21826	N	0.068554	T	0.04318	0.0119	L	0.34521	1.04	0.37176	D	0.903277	D	0.54772	0.968	B	0.42062	0.374	T	0.32322	-0.9911	10	0.62326	D	0.03	.	13.8423	0.63446	0.1619:0.8381:0.0:0.0	.	393	O00716	E2F3_HUMAN	Y	393;262	ENSP00000262904:S393Y;ENSP00000443418:S262Y	ENSP00000262904:S393Y	S	+	2	0	E2F3	20598420	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.553000	0.60753	2.746000	0.94184	0.561000	0.74099	TCT	E2F3	-	NULL	ENSG00000112242		0.408	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	49	0.00	0	C			20490441	20490441	+1	no_errors	ENST00000346618	ensembl	human	known	69_37n	missense	25	43.18	19	SNP	0.976	A
E2F6	1876	genome.wustl.edu	37	2	11587858	11587858	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:11587858C>T	ENST00000381525.3	-	6	963	c.694G>A	c.(694-696)Gat>Aat	p.D232N	E2F6_ENST00000542100.1_Missense_Mutation_p.D157N|E2F6_ENST00000362009.4_3'UTR|E2F6_ENST00000307236.4_Missense_Mutation_p.D200N|E2F6_ENST00000546212.1_Missense_Mutation_p.D157N	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	232	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AAATAGACATCGATAGGTCCG	0.448																																						dbGAP											0													72.0	65.0	67.0					2																	11587858		1883	4119	6002	-	-	-	SO:0001583	missense	0			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.694G>A	2.37:g.11587858C>T	ENSP00000370936:p.Asp232Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Missense_Mutation	SNP	pfam_E2F_TDP	p.D232N	ENST00000381525.3	37	c.694	CCDS1680.2	2	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601247	0.66445	.	.	ENSG00000169016	ENST00000381525;ENST00000307236;ENST00000542100;ENST00000546212	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.21	5.21	0.72293	.	0.293378	0.38005	N	0.001844	D	0.86748	0.6007	M	0.67625	2.065	0.80722	D	1	P;P	0.44659	0.84;0.796	B;B	0.35278	0.098;0.199	D	0.87267	0.2283	10	0.38643	T	0.18	0.039	17.6979	0.88286	0.0:1.0:0.0:0.0	.	232;200	O75461;G5E936	E2F6_HUMAN;.	N	232;200;157;157	ENSP00000370936:D232N;ENSP00000302159:D200N;ENSP00000446315:D157N;ENSP00000438864:D157N	ENSP00000302159:D200N	D	-	1	0	E2F6	11505309	1.000000	0.71417	0.091000	0.20842	0.479000	0.33129	3.933000	0.56545	2.600000	0.87896	0.655000	0.94253	GAT	E2F6	-	NULL	ENSG00000169016		0.448	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	HGNC	protein_coding	OTTHUMT00000207101.2	139	0.00	0	C	NM_001952		11587858	11587858	-1	no_errors	ENST00000381525	ensembl	human	known	69_37n	missense	108	22.30	31	SNP	0.965	T
E2F6	1876	genome.wustl.edu	37	2	11593806	11593806	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:11593806C>T	ENST00000381525.3	-	3	551	c.282G>A	c.(280-282)acG>acA	p.T94T	E2F6_ENST00000542100.1_Silent_p.T19T|E2F6_ENST00000362009.4_Silent_p.T94T|E2F6_ENST00000307236.4_Silent_p.T62T|E2F6_ENST00000546212.1_Silent_p.T19T	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	94					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		CTCCCAGTTTCGTTGCAACCT	0.418																																						dbGAP											0													107.0	98.0	100.0					2																	11593806		1831	4076	5907	-	-	-	SO:0001819	synonymous_variant	0			AF041381	CCDS1680.2, CCDS62858.1, CCDS62859.1	2p25.1	2008-02-05			ENSG00000169016	ENSG00000169016			3120	protein-coding gene	gene with protein product		602944				9501179	Standard	NM_198256		Approved	E2F-6	uc002rbh.4	O75461	OTTHUMG00000090565	ENST00000381525.3:c.282G>A	2.37:g.11593806C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z8|G5E936|O60544|Q53QY9|Q6Q9Z6|Q7Z2H6	Silent	SNP	pfam_E2F_TDP	p.T94	ENST00000381525.3	37	c.282	CCDS1680.2	2																																																																																			E2F6	-	pfam_E2F_TDP	ENSG00000169016		0.418	E2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F6	HGNC	protein_coding	OTTHUMT00000207101.2	90	0.00	0	C	NM_001952		11593806	11593806	-1	no_errors	ENST00000381525	ensembl	human	known	69_37n	silent	102	18.40	23	SNP	0.000	T
E2F8	79733	genome.wustl.edu	37	11	19252194	19252194	+	Silent	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:19252194A>C	ENST00000527884.1	-	8	1486	c.1254T>G	c.(1252-1254)ccT>ccG	p.P418P	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.P418P	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	418					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGTCTTGATAGGGCTACTGG	0.398																																						dbGAP											0													101.0	97.0	98.0					11																	19252194		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1254T>G	11.37:g.19252194A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Silent	SNP	pfam_E2F_TDP	p.P418	ENST00000527884.1	37	c.1254	CCDS7849.1	11																																																																																			E2F8	-	NULL	ENSG00000129173		0.398	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	148	0.00	0	A	NM_024680		19252194	19252194	-1	no_errors	ENST00000250024	ensembl	human	known	69_37n	silent	151	11.70	20	SNP	0.051	C
EBF1	1879	genome.wustl.edu	37	5	158135025	158135025	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:158135025G>T	ENST00000313708.6	-	15	1988	c.1706C>A	c.(1705-1707)cCt>cAt	p.P569H	EBF1_ENST00000380654.4_Missense_Mutation_p.P538H|EBF1_ENST00000517373.1_Missense_Mutation_p.P501H|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	569					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGTGGGAGGTGGGGAGGT	0.607			T	HMGA2	lipoma																																	dbGAP		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													70.0	65.0	67.0					5																	158135025		2163	4236	6399	-	-	-	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1706C>A	5.37:g.158135025G>T	ENSP00000322898:p.Pro569His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW11	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt	p.P569H	ENST00000313708.6	37	c.1706	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265346	0.80358	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.50548	0.74;0.74;0.74	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.76574	2.34	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.998;0.996;0.95;1.0	T	0.69331	-0.5173	10	0.39692	T	0.17	-2.5955	18.5127	0.90923	0.0:0.0:1.0:0.0	.	569;556;569;538	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	H	569;569;538;501	ENSP00000322898:P569H;ENSP00000370029:P538H;ENSP00000428020:P501H	ENSP00000322898:P569H	P	-	2	0	EBF1	158067603	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.368000	0.80403	0.561000	0.74099	CCT	EBF1	-	NULL	ENSG00000164330		0.607	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	247	0.00	0	G	NM_024007		158135025	158135025	-1	no_errors	ENST00000313708	ensembl	human	known	69_37n	missense	251	17.65	54	SNP	1.000	T
EBF2	64641	genome.wustl.edu	37	8	25897557	25897557	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:25897557C>T	ENST00000520164.1	-	5	1006	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	EBF2_ENST00000408929.3_Missense_Mutation_p.E9K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	157					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CACATCACTTCGTGCGTCAGG	0.587																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	dbGAP											0													150.0	149.0	149.0					8																	25897557		1919	4126	6045	-	-	-	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.469G>A	8.37:g.25897557C>T	ENSP00000430241:p.Glu157Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E157K	ENST00000520164.1	37	c.469	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.688862	0.96784	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	T;T	0.66815	-0.06;-0.23	5.5	5.5	0.81552	.	0.000000	0.85682	U	0.000000	T	0.79953	0.4535	M	0.86953	2.85	0.80722	D	1	D	0.63880	0.993	P	0.51170	0.661	D	0.84290	0.0499	10	0.87932	D	0	-4.9137	19.4023	0.94635	0.0:1.0:0.0:0.0	.	157	Q9HAK2	COE2_HUMAN	K	157;9	ENSP00000430241:E157K;ENSP00000386178:E9K	ENSP00000386178:E9K	E	-	1	0	EBF2	25953474	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.724000	0.84798	2.573000	0.86826	0.655000	0.94253	GAA	EBF2	-	NULL	ENSG00000221818		0.587	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	143	0.00	0	C	NM_022659		25897557	25897557	-1	no_errors	ENST00000520164	ensembl	human	known	69_37n	missense	47	23.44	15	SNP	1.000	T
EBLN2	55096	genome.wustl.edu	37	3	73111483	73111483	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:73111483G>T	ENST00000533473.1	+	1	674	c.251G>T	c.(250-252)aGa>aTa	p.R84I	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						GGGAAAAACAGACAGTATCCA	0.483																																						dbGAP											0													34.0	34.0	34.0					3																	73111483		1945	4137	6082	-	-	-	SO:0001583	missense	0				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.251G>T	3.37:g.73111483G>T	ENSP00000432104:p.Arg84Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWH3|Q9NW89	Missense_Mutation	SNP	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	p.R84I	ENST00000533473.1	37	c.251	CCDS54608.1	3	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214905	0.22373	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	-0.548	0.11833	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.19248	0.0462	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.48815	0.591	T	0.14117	-1.0484	7	0.30854	T	0.27	.	.	.	.	.	84	Q6P2I7	EBLN2_HUMAN	I	84	.	ENSP00000432104:R84I	R	+	2	0	EBLN2	73194173	0.073000	0.21202	0.004000	0.12327	0.004000	0.04260	0.364000	0.20325	-0.354000	0.08212	-0.350000	0.07774	AGA	EBLN2	-	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	ENSG00000255423		0.483	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBLN2	HGNC	protein_coding	OTTHUMT00000386932.1	108	0.00	0	G	NM_018029		73111483	73111483	+1	no_errors	ENST00000533473	ensembl	human	known	69_37n	missense	84	28.21	33	SNP	0.005	T
EBLN2	55096	genome.wustl.edu	37	3	73111684	73111684	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:73111684C>A	ENST00000533473.1	+	1	875	c.452C>A	c.(451-453)aCt>aAt	p.T151N	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	151										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AGGTCTAATACTGTGGTTGGG	0.438																																						dbGAP											0													70.0	66.0	67.0					3																	73111684		1925	4133	6058	-	-	-	SO:0001583	missense	0				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.452C>A	3.37:g.73111684C>A	ENSP00000432104:p.Thr151Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWH3|Q9NW89	Missense_Mutation	SNP	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	p.T151N	ENST00000533473.1	37	c.452	CCDS54608.1	3	.	.	.	.	.	.	.	.	.	.	C	2.168	-0.390555	0.04932	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.401	-0.802	0.10889	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.17379	-1.0371	7	0.72032	D	0.01	.	.	.	.	.	151	Q6P2I7	EBLN2_HUMAN	N	151	.	ENSP00000432104:T151N	T	+	2	0	EBLN2	73194374	0.040000	0.19996	0.001000	0.08648	0.001000	0.01503	-0.944000	0.03913	-0.791000	0.04486	-0.830000	0.03078	ACT	EBLN2	-	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	ENSG00000255423		0.438	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBLN2	HGNC	protein_coding	OTTHUMT00000386932.1	128	0.00	0	C	NM_018029		73111684	73111684	+1	no_errors	ENST00000533473	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	0.001	A
ECE1	1889	genome.wustl.edu	37	1	21548268	21548268	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:21548268T>C	ENST00000374893.6	-	18	2182	c.2108A>G	c.(2107-2109)aAc>aGc	p.N703S	ECE1_ENST00000436918.2_Intron|ECE1_ENST00000415912.2_Missense_Mutation_p.N687S|ECE1_ENST00000264205.6_Missense_Mutation_p.N700S|ECE1_ENST00000357071.4_Missense_Mutation_p.N691S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	703					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GAAGAGCTGGTTATTGGTGAG	0.537																																						dbGAP											0													219.0	214.0	216.0					1																	21548268		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.2108A>G	1.37:g.21548268T>C	ENSP00000364028:p.Asn703Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.N703S	ENST00000374893.6	37	c.2108	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980311	0.34942	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000264205	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.53	5.53	0.82687	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.378459	0.32106	N	0.006566	T	0.73329	0.3573	N	0.25060	0.705	0.38277	D	0.942322	B;B;B;B	0.25272	0.064;0.001;0.122;0.052	B;B;B;B	0.26693	0.072;0.011;0.043;0.043	T	0.71210	-0.4660	10	0.25106	T	0.35	-17.1448	14.5055	0.67750	0.0:0.0:0.0:1.0	.	687;703;691;700	Q2Z2K8;P42892;P42892-2;P42892-4	.;ECE1_HUMAN;.;.	S	687;691;703;700	ENSP00000405088:N687S;ENSP00000349581:N691S;ENSP00000364028:N703S;ENSP00000264205:N700S	ENSP00000264205:N700S	N	-	2	0	ECE1	21420855	1.000000	0.71417	0.909000	0.35828	0.934000	0.57294	5.141000	0.64814	2.106000	0.64143	0.455000	0.32223	AAC	ECE1	-	pfam_Peptidase_M13_C	ENSG00000117298		0.537	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	333	0.00	0	T	NM_001397		21548268	21548268	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	missense	200	11.89	27	SNP	0.996	C
ECHDC1	55862	genome.wustl.edu	37	6	127652066	127652066	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:127652066T>G	ENST00000531967.1	-	2	629	c.126A>C	c.(124-126)gaA>gaC	p.E42D	ECHDC1_ENST00000368291.2_Missense_Mutation_p.E36D|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E36D|ECHDC1_ENST00000368289.2_Missense_Mutation_p.E36D|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E36D|ECHDC1_ENST00000474289.2_Missense_Mutation_p.E36D|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E36D	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	42						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TTTTTTTCACTTCTTCCTCAT	0.393																																						dbGAP											0													99.0	91.0	94.0					6																	127652066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.126A>C	6.37:g.127652066T>G	ENSP00000436585:p.Glu42Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.E42D	ENST00000531967.1	37	c.126	CCDS47471.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.96|13.96	2.394353|2.394353	0.42410|0.42410	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368290;ENST00000474289;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582|ENST00000436638	T;T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;0.74;-0.14;0.82|.	6.06|6.06	-4.36|-4.36	0.03645|0.03645	.|.	0.425022|.	0.27019|.	N|.	0.021331|.	T|T	0.06826|0.06826	0.0174|0.0174	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|.	0.16603|.	0.003;0.018|.	B;B|.	0.15870|.	0.004;0.014|.	T|T	0.33904|0.33904	-0.9850|-0.9850	10|5	0.23891|.	T|.	0.37|.	-12.7247|-12.7247	0.8468|0.8468	0.01163|0.01163	0.2054:0.2791:0.1616:0.354|0.2054:0.2791:0.1616:0.354	.|.	36;42|.	Q5TEF6;Q9NTX5|.	.;ECHD1_HUMAN|.	D|T	36;42;36;36;36;36;36;36;36;36;36|10	ENSP00000401751:E36D;ENSP00000436585:E42D;ENSP00000434908:E36D;ENSP00000311115:E36D;ENSP00000402492:E36D;ENSP00000435502:E36D|.	ENSP00000311115:E36D|.	E|K	-|-	3|2	2|0	ECHDC1|ECHDC1	127693759|127693759	0.611000|0.611000	0.26992|0.26992	0.464000|0.464000	0.27143|0.27143	0.969000|0.969000	0.65631|0.65631	-0.167000|-0.167000	0.09940|0.09940	-0.144000|-0.144000	0.11314|0.11314	0.528000|0.528000	0.53228|0.53228	GAA|AAG	ECHDC1	-	NULL	ENSG00000093144		0.393	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	264	0.00	0	T			127652066	127652066	-1	no_errors	ENST00000531967	ensembl	human	known	69_37n	missense	170	13.71	27	SNP	0.013	G
ECRP	643332	genome.wustl.edu	37	14	21387988	21387988	+	lincRNA	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21387988A>C	ENST00000555642.1	-	0	344				RP11-84C10.2_ENST00000258817.2_lincRNA|RP11-219E7.4_ENST00000553534.1_lincRNA																							CGGCGATGGAAAAACCAAAAT	0.413																																						dbGAP											0																																										-	-	-			0																															14.37:g.21387988A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000555642.1	37	NULL		14																																																																																			RP11-84C10.2	-	-	ENSG00000136315		0.413	RP11-84C10.3-001	KNOWN	basic	lincRNA	ECRP	Clone_based_vega_gene	lincRNA	OTTHUMT00000411340.1	130	0.00	0	A			21387988	21387988	+1	no_errors	ENST00000258817	ensembl	human	known	69_37n	rna	124	13.29	19	SNP	0.011	C
ECT2	1894	genome.wustl.edu	37	3	172537987	172537987	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:172537987G>T	ENST00000392692.3	+	25	2881	c.2705G>T	c.(2704-2706)aGa>aTa	p.R902I	ECT2_ENST00000232458.5_Missense_Mutation_p.R871I|ECT2_ENST00000540509.1_Missense_Mutation_p.R902I|ECT2_ENST00000417960.1_Missense_Mutation_p.R870I|ECT2_ENST00000441497.2_Missense_Mutation_p.R871I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	902					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTTGAAAGGAGAAGTCATACG	0.318																																						dbGAP											0													96.0	99.0	98.0					3																	172537987		2203	4299	6502	-	-	-	SO:0001583	missense	0			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2705G>T	3.37:g.172537987G>T	ENSP00000376457:p.Arg902Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.R902I	ENST00000392692.3	37	c.2705	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882371	0.51908	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T	0.68624	-0.29;-0.34;-0.29;-0.29;-0.34	5.52	5.52	0.82312	.	0.565361	0.21140	N	0.079482	T	0.64918	0.2642	L	0.44542	1.39	0.80722	D	1	B;P;B	0.48911	0.017;0.917;0.028	B;P;B	0.47470	0.014;0.548;0.011	T	0.66976	-0.5787	10	0.56958	D	0.05	.	12.4058	0.55439	0.0777:0.0:0.9223:0.0	.	902;347;870	Q9H8V3;Q96SJ9;Q9H8V3-2	ECT2_HUMAN;.;.	I	871;902;870;871;902	ENSP00000232458:R871I;ENSP00000376457:R902I;ENSP00000415876:R870I;ENSP00000412259:R871I;ENSP00000443160:R902I	ENSP00000232458:R871I	R	+	2	0	ECT2	174020681	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.136000	0.58004	2.603000	0.88011	0.591000	0.81541	AGA	ECT2	-	NULL	ENSG00000114346		0.318	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	259	0.00	0	G	NM_018098		172537987	172537987	+1	no_errors	ENST00000540509	ensembl	human	known	69_37n	missense	183	11.17	23	SNP	1.000	T
ECT2	1894	genome.wustl.edu	37	3	172537997	172537997	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:172537997G>A	ENST00000392692.3	+	25	2891	c.2715G>A	c.(2713-2715)acG>acA	p.T905T	ECT2_ENST00000232458.5_Silent_p.T874T|ECT2_ENST00000540509.1_Silent_p.T905T|ECT2_ENST00000417960.1_Silent_p.T873T|ECT2_ENST00000441497.2_Silent_p.T874T	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	905					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GAAGTCATACGTTAAGTAGAT	0.328																																						dbGAP											0													94.0	96.0	95.0					3																	172537997		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2715G>A	3.37:g.172537997G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.T905	ENST00000392692.3	37	c.2715	CCDS58860.1	3																																																																																			ECT2	-	NULL	ENSG00000114346		0.328	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	242	0.00	0	G	NM_018098		172537997	172537997	+1	no_errors	ENST00000540509	ensembl	human	known	69_37n	silent	147	23.83	46	SNP	0.860	A
EDA	1896	genome.wustl.edu	37	X	69176943	69176943	+	Missense_Mutation	SNP	C	C	T	rs132630312		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:69176943C>T	ENST00000374552.4	+	2	705	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Missense_Mutation_p.R155C|EDA_ENST00000374553.2_Missense_Mutation_p.R155C	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	155			R -> C (in XHED; abolishes proteolytic processing). {ECO:0000269|PubMed:11279189, ECO:0000269|PubMed:18231121, ECO:0000269|PubMed:19438931, ECO:0000269|PubMed:20486090}.		cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						TAGGCGTGTTCGCCGCAATAA	0.363																																						dbGAP											0			GRCh37	CM980583	EDA	M	rs132630312						101.0	95.0	97.0					X																	69176943		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.463C>T	X.37:g.69176943C>T	ENSP00000363680:p.Arg155Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	pfam_TNF,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.R155C	ENST00000374552.4	37	c.463	CCDS14394.1	X	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658856	0.47467	.	.	ENSG00000158813	ENST00000513754;ENST00000374552;ENST00000374553;ENST00000524573;ENST00000503592	T;T;T;D	0.92149	-0.64;-0.64;-0.64;-2.98	4.97	3.2	0.36748	.	0.802333	0.11663	N	0.541608	D	0.84506	0.5487	N	0.19112	0.55	0.58432	A	0.999999	B;B;B	0.15719	0.014;0.008;0.014	B;B;B	0.08055	0.003;0.001;0.003	T	0.80386	-0.1404	9	0.87932	D	0	-1.301	6.7462	0.23462	0.0:0.7824:0.0:0.2176	.	155;155;155	Q92838-9;Q92838;Q92838-3	.;EDA_HUMAN;.	C	155;155;155;155;23	ENSP00000363680:R155C;ENSP00000363681:R155C;ENSP00000432585:R155C;ENSP00000423037:R23C	ENSP00000363680:R155C	R	+	1	0	EDA	69093668	0.920000	0.31207	0.971000	0.41717	0.964000	0.63967	1.728000	0.38105	0.599000	0.29845	0.594000	0.82650	CGC	EDA	-	NULL	ENSG00000158813		0.363	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDA	HGNC	protein_coding	OTTHUMT00000057048.2	755	0.00	0	C	NM_001399		69176943	69176943	+1	no_errors	ENST00000374552	ensembl	human	known	69_37n	missense	627	15.34	114	SNP	0.911	T
EDAR	10913	genome.wustl.edu	37	2	109546662	109546662	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:109546662T>G	ENST00000258443.2	-	3	518	c.88A>C	c.(88-90)Aac>Cac	p.N30H	EDAR_ENST00000376651.1_Missense_Mutation_p.N30H|EDAR_ENST00000409271.1_Missense_Mutation_p.N30H	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	30					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCACCGCAGTTTGAGTATTCC	0.597																																						dbGAP											0													85.0	77.0	80.0					2																	109546662		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.88A>C	2.37:g.109546662T>G	ENSP00000258443:p.Asn30His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like	p.N30H	ENST00000258443.2	37	c.88	CCDS2081.1	2	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633029	0.87660	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90563	-2.69;-2.69;-2.69	5.5	5.5	0.81552	.	0.181516	0.64402	D	0.000018	D	0.88179	0.6367	L	0.44542	1.39	0.51482	D	0.99992	P;P	0.43169	0.8;0.612	B;B	0.41088	0.347;0.347	D	0.89498	0.3762	10	0.72032	D	0.01	-26.1676	15.5963	0.76583	0.0:0.0:0.0:1.0	.	30;30	E9PC98;Q9UNE0	.;EDAR_HUMAN	H	30	ENSP00000386371:N30H;ENSP00000258443:N30H;ENSP00000365839:N30H	ENSP00000258443:N30H	N	-	1	0	EDAR	108913094	1.000000	0.71417	0.846000	0.33378	0.874000	0.50279	7.309000	0.78937	2.072000	0.62099	0.460000	0.39030	AAC	EDAR	-	NULL	ENSG00000135960		0.597	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1	46	0.00	0	T			109546662	109546662	-1	no_errors	ENST00000376651	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	G
EDEM3	80267	genome.wustl.edu	37	1	184703732	184703732	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:184703732A>C	ENST00000318130.8	-	5	657	c.391T>G	c.(391-393)Tta>Gta	p.L131V	EDEM3_ENST00000367512.3_Missense_Mutation_p.L88V	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	131					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACATCTCTTAAAACTTTTCTC	0.299																																						dbGAP											0													46.0	50.0	49.0					1																	184703732		2194	4285	6479	-	-	-	SO:0001583	missense	0			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.391T>G	1.37:g.184703732A>C	ENSP00000318147:p.Leu131Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L131V	ENST00000318130.8	37	c.391	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	A	5.363	0.252306	0.10185	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.71341	-0.56;-0.56	5.81	2.16	0.27623	.	0.266357	0.36815	N	0.002389	T	0.34861	0.0912	N	0.02403	-0.565	0.42141	D	0.991512	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.03344	-1.1046	10	0.17369	T	0.5	.	1.3967	0.02262	0.3503:0.3021:0.086:0.2615	.	131;88	Q9BZQ6;B7ZLZ2	EDEM3_HUMAN;.	V	131;88	ENSP00000318147:L131V;ENSP00000356482:L88V	ENSP00000318147:L131V	L	-	1	2	EDEM3	182970355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.932000	0.28884	0.428000	0.26173	0.528000	0.53228	TTA	EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000116406		0.299	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	196	0.00	0	A	NM_025191		184703732	184703732	-1	no_errors	ENST00000318130	ensembl	human	known	69_37n	missense	138	12.10	19	SNP	0.996	C
EDN1	1906	genome.wustl.edu	37	6	12294550	12294550	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:12294550C>A	ENST00000379375.5	+	4	713	c.446C>A	c.(445-447)tCc>tAc	p.S149Y		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	149					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AAAGACTGTTCCAAGCTTGGG	0.368																																						dbGAP											0													97.0	98.0	98.0					6																	12294550		2203	4300	6503	-	-	-	SO:0001583	missense	0			S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.446C>A	6.37:g.12294550C>A	ENSP00000368683:p.Ser149Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA1	Missense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.S149Y	ENST00000379375.5	37	c.446	CCDS4522.1	6	.	.	.	.	.	.	.	.	.	.	C	4.935	0.173645	0.09391	.	.	ENSG00000078401	ENST00000379375	D	0.84660	-1.88	5.85	2.72	0.32119	.	1.101030	0.06675	N	0.767016	T	0.70211	0.3198	M	0.67953	2.075	0.09310	N	1	B;B	0.32425	0.371;0.371	B;B	0.30855	0.121;0.121	T	0.63761	-0.6564	10	0.52906	T	0.07	-29.267	4.4813	0.11767	0.1514:0.4963:0.0:0.3523	.	149;149	Q6FH53;P05305	.;EDN1_HUMAN	Y	149	ENSP00000368683:S149Y	ENSP00000368683:S149Y	S	+	2	0	EDN1	12402536	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.245000	0.18142	0.834000	0.34852	-0.137000	0.14449	TCC	EDN1	-	NULL	ENSG00000078401		0.368	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN1	HGNC	protein_coding	OTTHUMT00000039872.1	318	0.00	0	C	NM_001955		12294550	12294550	+1	no_errors	ENST00000379375	ensembl	human	known	69_37n	missense	193	24.31	62	SNP	0.000	A
EED	8726	genome.wustl.edu	37	11	85988119	85988119	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:85988119G>A	ENST00000263360.6	+	10	1750	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	EED_ENST00000528180.1_Missense_Mutation_p.R275Q|EED_ENST00000351625.6_Missense_Mutation_p.R380Q|EED_ENST00000527888.1_Missense_Mutation_p.R20Q|EED_ENST00000327320.4_Missense_Mutation_p.R355Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	355	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATTCTTGGGCGATTTGATTAC	0.358																																						dbGAP											0													165.0	166.0	166.0					11																	85988119		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.1064G>A	11.37:g.85988119G>A	ENSP00000263360:p.Arg355Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R355Q	ENST00000263360.6	37	c.1064	CCDS8273.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.032472|4.032472	0.75504|0.75504	.|.	.|.	ENSG00000074266|ENSG00000074266	ENST00000534595|ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000534564;ENST00000524673;ENST00000527888	.|T;T;T;T;T	.|0.79454	.|1.57;-1.27;1.57;1.57;-0.16	5.74|5.74	5.74|5.74	0.90152|0.90152	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76842|0.76842	0.4044|0.4044	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|P;D;D;P	.|0.56968	.|0.944;0.968;0.978;0.604	.|B;B;P;B	.|0.51999	.|0.159;0.252;0.687;0.046	T|T	0.74359|0.74359	-0.3691|-0.3691	5|9	.|.	.|.	.|.	-5.5123|-5.5123	19.9179|19.9179	0.97070|0.97070	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|355;275;380;355	.|O75530-3;E9PJK2;O75530-2;O75530	.|.;.;.;EED_HUMAN	N|Q	70|355;275;380;355;104;20;20	.|ENSP00000263360:R355Q;ENSP00000431778:R275Q;ENSP00000338186:R380Q;ENSP00000315587:R355Q;ENSP00000437318:R20Q	.|.	D|R	+|+	1|2	0|0	EED|EED	85665767|85665767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.357000|9.357000	0.97099|0.97099	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GAT|CGA	EED	-	superfamily_WD40_repeat_dom	ENSG00000074266		0.358	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	HGNC	protein_coding	OTTHUMT00000393733.1	383	0.00	0	G	NM_003797		85988119	85988119	+1	no_errors	ENST00000263360	ensembl	human	known	69_37n	missense	256	14.38	43	SNP	1.000	A
EEF1DP3	196549	genome.wustl.edu	37	13	32526884	32526884	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:32526884G>A	ENST00000428783.1	+	0	584							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										AGAACATCCCGAAATCCCTGG	0.627																																						dbGAP											0													33.0	32.0	32.0					13																	32526884		692	1591	2283	-	-	-			0					13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32526884G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AR3	RNA	SNP	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			EEF1DP3	-	-	ENSG00000229715		0.627	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	HGNC	pseudogene	OTTHUMT00000044400.2	65	0.00	0	G	NR_027062		32526884	32526884	+1	no_errors	ENST00000428783	ensembl	human	known	69_37n	rna	36	26.53	13	SNP	1.000	A
EEF2K	29904	genome.wustl.edu	37	16	22291526	22291526	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:22291526G>T	ENST00000263026.5	+	17	2371	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	633					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGGTGCCAAGACTGGCTAGA	0.602																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											0													68.0	60.0	63.0					16																	22291526		2197	4300	6497	-	-	-	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.1897G>T	16.37:g.22291526G>T	ENSP00000263026:p.Asp633Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.D633Y	ENST00000263026.5	37	c.1897	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252965	0.59212	.	.	ENSG00000103319	ENST00000263026	T	0.61859	0.07	5.19	1.57	0.23409	Tetratricopeptide-like helical (1);	0.268288	0.46758	D	0.000277	T	0.54549	0.1865	L	0.45581	1.43	0.53688	D	0.999971	P	0.44659	0.84	P	0.47891	0.56	T	0.57015	-0.7883	10	0.72032	D	0.01	-2.0363	9.8888	0.41276	0.2874:0.0:0.7126:0.0	.	633	O00418	EF2K_HUMAN	Y	633	ENSP00000263026:D633Y	ENSP00000263026:D633Y	D	+	1	0	EEF2K	22199027	0.998000	0.40836	0.626000	0.29213	0.835000	0.47333	2.574000	0.46016	0.657000	0.30906	0.561000	0.74099	GAC	EEF2K	-	pfam_Sel1-like,pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.602	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	310	0.00	0	G	NM_013302		22291526	22291526	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	missense	256	16.34	50	SNP	0.811	T
EEFSEC	60678	genome.wustl.edu	37	3	127981029	127981029	+	Missense_Mutation	SNP	G	G	A	rs528203343		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:127981029G>A	ENST00000254730.6	+	3	637	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	EEFSEC_ENST00000483457.1_Missense_Mutation_p.E195K	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	195	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.E195K(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AGAGGCCCCCGAAACTGAAGC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18081	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	endometrium(1)											86.0	99.0	94.0					3																	127981029		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.583G>A	3.37:g.127981029G>A	ENSP00000254730:p.Glu195Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HZ6	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_ProtSyn_GTP-bd	p.E195K	ENST00000254730.6	37	c.583	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715439	0.48622	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.54675	0.91;0.56	5.46	5.46	0.80206	Protein synthesis factor, GTP-binding (1);	0.153716	0.56097	D	0.000025	T	0.54111	0.1838	L	0.33293	1	0.41796	D	0.989893	D;P	0.69078	0.997;0.916	P;B	0.55222	0.771;0.281	T	0.44128	-0.9348	10	0.13470	T	0.59	7.6382	17.4962	0.87718	0.0:0.0:1.0:0.0	.	195;195	C9J8T0;P57772	.;SELB_HUMAN	K	195	ENSP00000254730:E195K;ENSP00000417660:E195K	ENSP00000254730:E195K	E	+	1	0	EEFSEC	129463719	1.000000	0.71417	0.985000	0.45067	0.035000	0.12851	9.064000	0.93933	2.551000	0.86045	0.655000	0.94253	GAA	EEFSEC	-	pfam_ProtSyn_GTP-bd	ENSG00000132394		0.567	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	133	0.00	0	G	NM_021937		127981029	127981029	+1	no_errors	ENST00000254730	ensembl	human	known	69_37n	missense	103	21.37	28	SNP	1.000	A
EEPD1	80820	genome.wustl.edu	37	7	36338750	36338750	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:36338750G>A	ENST00000242108.4	+	8	2363	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	EEPD1_ENST00000534978.1_Missense_Mutation_p.A549T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	549					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAAGAAGGATGCCCCTCGGAA	0.582																																						dbGAP											0													83.0	70.0	74.0					7																	36338750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1645G>A	7.37:g.36338750G>A	ENSP00000242108:p.Ala549Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.A549T	ENST00000242108.4	37	c.1645	CCDS34619.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.38|11.38	1.620413|1.620413	0.28801|0.28801	.|.	.|.	ENSG00000122547|ENSG00000122547	ENST00000242108;ENST00000534978|ENST00000444777	D;D|.	0.95171|.	-3.63;-3.63|.	5.17|5.17	4.29|4.29	0.51040|0.51040	Endonuclease/exonuclease/phosphatase (1);|.	0.623617|.	0.16939|.	N|.	0.193331|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.12630|.	0.006|.	B|.	0.11329|.	0.006|.	T|T	0.20042|0.20042	-1.0287|-1.0287	10|5	0.38643|.	T|.	0.18|.	-11.0204|-11.0204	8.983|8.983	0.35977|0.35977	0.0741:0.0:0.777:0.1489|0.0741:0.0:0.777:0.1489	.|.	549|.	Q7L9B9|.	EEPD1_HUMAN|.	T|Y	549|13	ENSP00000242108:A549T;ENSP00000442692:A549T|.	ENSP00000242108:A549T|.	A|C	+|+	1|2	0|0	EEPD1|EEPD1	36305275|36305275	0.029000|0.029000	0.19370|0.19370	0.026000|0.026000	0.17262|0.17262	0.477000|0.477000	0.33069|0.33069	1.962000|1.962000	0.40442|0.40442	1.292000|1.292000	0.44672|0.44672	0.462000|0.462000	0.41574|0.41574	GCC|TGC	EEPD1	-	superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.582	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	205	0.00	0	G	NM_030636		36338750	36338750	+1	no_errors	ENST00000242108	ensembl	human	known	69_37n	missense	122	11.43	16	SNP	0.014	A
EFCAB10	100130771	genome.wustl.edu	37	7	105205693	105205693	+	3'UTR	SNP	A	A	T	rs147460279	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:105205693A>T	ENST00000480514.1	-	0	621				RINT1_ENST00000257700.2_Intron|EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000490493.1_5'Flank			A6NFE3	EFC10_HUMAN	EF-hand calcium binding domain 10								calcium ion binding (GO:0005509)										AAACTGATGAAAATTTTTTGG	0.373																																						dbGAP											0													30.0	32.0	31.0					7																	105205693		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC105284		7q22.2	2013-01-29			ENSG00000185055	ENSG00000185055		"""EF-hand domain containing"""	34531	protein-coding gene	gene with protein product							Standard	NR_027068		Approved		uc003vdc.4	A6NFE3	OTTHUMG00000157397	ENST00000480514.1:c.*201T>A	7.37:g.105205693A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000480514.1	37	NULL		7																																																																																			EFCAB10	-	-	ENSG00000185055		0.373	EFCAB10-001	KNOWN	basic|appris_candidate	protein_coding	EFCAB10	HGNC	protein_coding	OTTHUMT00000348673.1	105	0.00	0	A			105205693	105205693	-1	no_errors	ENST00000469099	ensembl	human	known	69_37n	rna	53	31.17	24	SNP	0.000	T
EFCAB11	90141	genome.wustl.edu	37	14	90263658	90263658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:90263658G>A	ENST00000316738.7	-	6	449	c.421C>T	c.(421-423)Cga>Tga	p.R141*	RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000555872.1_Nonsense_Mutation_p.R117*|EFCAB11_ENST00000556609.1_Nonsense_Mutation_p.R93*	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	141	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						TCTGAATCTCGATCTACTTCC	0.378																																						dbGAP											0													149.0	130.0	137.0					14																	90263658		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"""EF-hand domain containing"""	20357	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 143"""	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.421C>T	14.37:g.90263658G>A	ENSP00000326267:p.Arg141*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Nonsense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R141*	ENST00000316738.7	37	c.421	CCDS9887.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.932203	0.97116	.	.	ENSG00000140025	ENST00000316738;ENST00000555872;ENST00000556609	.	.	.	6.03	6.03	0.97812	.	0.254751	0.32106	N	0.006580	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	0.9104	19.545	0.95291	0.0:0.0:1.0:0.0	.	.	.	.	X	141;117;93	.	ENSP00000326267:R141X	R	-	1	2	EFCAB11	89333411	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	6.805000	0.75191	2.861000	0.98227	0.655000	0.94253	CGA	EFCAB11	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000140025		0.378	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	HGNC	protein_coding	OTTHUMT00000309022.2	343	0.00	0	G	NM_145231		90263658	90263658	-1	no_errors	ENST00000316738	ensembl	human	known	69_37n	nonsense	197	23.85	62	SNP	1.000	A
EFCAB13	124989	genome.wustl.edu	37	17	45479509	45479509	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:45479509G>T	ENST00000331493.2	+	18	2368	c.1957G>T	c.(1957-1959)Gta>Tta	p.V653L	EFCAB13_ENST00000517484.1_Missense_Mutation_p.V557L	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	653	EF-hand 3.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AGGTGACAAAGTACAATTTGA	0.318																																						dbGAP											0													103.0	106.0	105.0					17																	45479509		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1957G>T	17.37:g.45479509G>T	ENSP00000332111:p.Val653Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.V653L	ENST00000331493.2	37	c.1957	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702315	0.48307	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	D;T	0.82984	-1.67;-1.25	2.71	0.615	0.17608	EF-hand-like domain (1);	0.883325	0.09524	N	0.790429	T	0.78298	0.4261	L	0.55481	1.735	0.09310	N	1	P;P	0.46912	0.886;0.851	B;B	0.44224	0.381;0.444	T	0.67550	-0.5642	10	0.62326	D	0.03	-2.1836	4.482	0.11771	0.3354:0.0:0.6646:0.0	.	653;557	Q8IY85;G3V128	CQ057_HUMAN;.	L	653;557	ENSP00000332111:V653L;ENSP00000430048:V557L	ENSP00000332111:V653L	V	+	1	0	C17orf57	42834508	0.907000	0.30839	0.677000	0.29947	0.264000	0.26372	0.112000	0.15479	0.456000	0.26937	0.298000	0.19748	GTA	EFCAB13	-	NULL	ENSG00000178852		0.318	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	256	0.00	0	G	NM_152347		45479509	45479509	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	missense	141	14.55	24	SNP	0.217	T
EFCAB5	374786	genome.wustl.edu	37	17	28295980	28295980	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:28295980G>T	ENST00000394835.3	+	4	554	c.362G>T	c.(361-363)aGa>aTa	p.R121I	EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R121I|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R121I|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R65I|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R121I	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	121							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTTTTTGAAAGAATGGAGGCA	0.348																																						dbGAP											0													33.0	30.0	31.0					17																	28295980		1831	4087	5918	-	-	-	SO:0001583	missense	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.362G>T	17.37:g.28295980G>T	ENSP00000378312:p.Arg121Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.R121I	ENST00000394835.3	37	c.362	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390902	0.25118	.	.	ENSG00000176927	ENST00000448319;ENST00000536908;ENST00000421238;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598	T;T;T;T;T	0.28895	1.64;2.63;2.63;1.92;1.59	5.43	0.575	0.17374	.	.	.	.	.	T	0.39436	0.1078	L	0.40543	1.245	0.27077	N	0.963187	D;D	0.67145	0.996;0.996	D;D	0.66979	0.948;0.931	T	0.18967	-1.0320	9	0.72032	D	0.01	-9.6358	6.7339	0.23399	0.5817:0.0:0.4183:0.0	.	65;121	F5GYL2;A4FU69	.;EFCB5_HUMAN	I	65;65;65;121;121;121;121;65	ENSP00000440619:R65I;ENSP00000378312:R121I;ENSP00000322003:R121I;ENSP00000378309:R121I;ENSP00000368012:R121I	ENSP00000322003:R121I	R	+	2	0	EFCAB5	25320106	0.924000	0.31332	0.023000	0.16930	0.392000	0.30506	0.943000	0.29030	0.338000	0.23692	0.655000	0.94253	AGA	EFCAB5	-	NULL	ENSG00000176927		0.348	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	191	0.00	0	G	NM_198529		28295980	28295980	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	missense	115	16.06	22	SNP	0.114	T
EFCAB13	124989	genome.wustl.edu	37	17	45507216	45507216	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:45507216C>A	ENST00000331493.2	+	24	2938	c.2527C>A	c.(2527-2529)Ctc>Atc	p.L843I	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L747I	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	843						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TACCCAAATTCTCCAGAATGA	0.363																																						dbGAP											0													196.0	178.0	184.0					17																	45507216		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2527C>A	17.37:g.45507216C>A	ENSP00000332111:p.Leu843Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.L843I	ENST00000331493.2	37	c.2527	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	.	16.23	3.065320	0.55432	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.80738	1.81;-1.41	2.56	0.44	0.16572	.	0.911919	0.09000	N	0.863095	T	0.72930	0.3522	L	0.27053	0.805	0.23673	N	0.997142	D;D	0.60160	0.974;0.987	P;P	0.53809	0.513;0.735	T	0.60611	-0.7229	10	0.24483	T	0.36	0.0	3.1891	0.06610	0.2577:0.5924:0.0:0.1499	.	843;747	Q8IY85;G3V128	CQ057_HUMAN;.	I	843;747	ENSP00000332111:L843I;ENSP00000430048:L747I	ENSP00000332111:L843I	L	+	1	0	C17orf57	42862215	0.990000	0.36364	0.904000	0.35570	0.329000	0.28539	-0.071000	0.11505	0.158000	0.19367	0.187000	0.17357	CTC	EFCAB13	-	NULL	ENSG00000178852		0.363	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	268	0.00	0	C	NM_152347		45507216	45507216	+1	no_errors	ENST00000331493	ensembl	human	known	69_37n	missense	159	14.52	27	SNP	0.941	A
EFCAB6	64800	genome.wustl.edu	37	22	44064877	44064877	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:44064877C>A	ENST00000262726.7	-	16	1942	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K411N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAAAAGTTTCTTGTAAAGGA	0.363																																						dbGAP											0													144.0	140.0	141.0					22																	44064877		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1689G>T	22.37:g.44064877C>A	ENSP00000262726:p.Lys563Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K563N	ENST00000262726.7	37	c.1689	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705983	0.30232	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.42513	0.97;0.97	4.97	3.96	0.45880	EF-hand-like domain (1);	0.140385	0.45361	D	0.000375	T	0.54870	0.1885	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.54186	-0.8331	10	0.14656	T	0.56	-34.5555	9.0003	0.36077	0.0:0.9007:0.0:0.0993	.	563	Q5THR3	EFCB6_HUMAN	N	411;563	ENSP00000379533:K411N;ENSP00000262726:K563N	ENSP00000262726:K563N	K	-	3	2	EFCAB6	42396210	0.999000	0.42202	0.949000	0.38748	0.038000	0.13279	2.237000	0.43061	1.328000	0.45358	0.555000	0.69702	AAG	EFCAB6	-	NULL	ENSG00000186976		0.363	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	437	0.00	0	C	NM_022785		44064877	44064877	-1	no_errors	ENST00000262726	ensembl	human	known	69_37n	missense	265	11.07	33	SNP	0.996	A
EFCAB7	84455	genome.wustl.edu	37	1	64017495	64017495	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:64017495G>A	ENST00000371088.4	+	8	1292	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	349							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACCGAACTACGAAATAGAGAA	0.313																																						dbGAP											0													65.0	63.0	64.0					1																	64017495		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1046G>A	1.37:g.64017495G>A	ENSP00000360129:p.Arg349Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R349Q	ENST00000371088.4	37	c.1046	CCDS30737.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171046	0.38315	.	.	ENSG00000203965	ENST00000371088	T	0.48836	0.8	5.21	1.23	0.21249	.	0.183000	0.46758	N	0.000267	T	0.21962	0.0529	L	0.55834	1.745	0.80722	D	1	B	0.19200	0.034	B	0.09377	0.004	T	0.07009	-1.0795	10	0.39692	T	0.17	-0.9721	9.4358	0.38637	0.4232:0.0:0.5768:0.0	.	349	A8K855	EFCB7_HUMAN	Q	349	ENSP00000360129:R349Q	ENSP00000360129:R349Q	R	+	2	0	EFCAB7	63790083	0.999000	0.42202	0.997000	0.53966	0.989000	0.77384	0.585000	0.23879	0.036000	0.15547	-0.262000	0.10625	CGA	EFCAB7	-	NULL	ENSG00000203965		0.313	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	242	0.00	0	G	NM_032437		64017495	64017495	+1	no_errors	ENST00000371088	ensembl	human	known	69_37n	missense	143	20.88	38	SNP	0.998	A
EFCAB7	84455	genome.wustl.edu	37	1	64020952	64020952	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:64020952G>T	ENST00000371088.4	+	9	1302				EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7								calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CCTTTCAGAAGAAATATTAAA	0.254																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1057-77G>T	1.37:g.64020952G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q658P0|Q96B95|Q96JM6	RNA	SNP	-	NULL	ENST00000371088.4	37	NULL	CCDS30737.1	1																																																																																			EFCAB7	-	-	ENSG00000203965		0.254	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB7	HGNC	protein_coding	OTTHUMT00000024910.1	187	0.00	0	G	NM_032437		64020952	64020952	+1	no_errors	ENST00000461039	ensembl	human	known	69_37n	rna	84	35.38	46	SNP	0.000	T
MICU2	221154	genome.wustl.edu	37	13	22069389	22069389	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:22069389A>C	ENST00000382374.4	-	11	1176	c.1111T>G	c.(1111-1113)Ttt>Gtt	p.F371V	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	371	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AAGATCTTAAAGACAGTGTCC	0.348																																						dbGAP											0													114.0	99.0	104.0					13																	22069389		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1111T>G	13.37:g.22069389A>C	ENSP00000371811:p.Phe371Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0T6|Q8NAX8	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.F371V	ENST00000382374.4	37	c.1111	CCDS9297.1	13	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658416	0.88154	.	.	ENSG00000165487	ENST00000382374	D	0.82711	-1.64	6.01	6.01	0.97437	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93414	0.6771	10	0.87932	D	0	-13.6865	16.5149	0.84297	1.0:0.0:0.0:0.0	.	371	Q8IYU8	EFHA1_HUMAN	V	371	ENSP00000371811:F371V	ENSP00000371811:F371V	F	-	1	0	EFHA1	20967389	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	8.779000	0.91792	2.302000	0.77476	0.477000	0.44152	TTT	EFHA1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000165487		0.348	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA1	HGNC	protein_coding	OTTHUMT00000144355.1	269	0.00	0	A	NM_152726		22069389	22069389	-1	no_errors	ENST00000382374	ensembl	human	known	69_37n	missense	144	25.00	48	SNP	1.000	C
EFNA5	1946	genome.wustl.edu	37	5	106722976	106722976	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:106722976G>A	ENST00000333274.6	-	4	806	c.525C>T	c.(523-525)ttC>ttT	p.F175F	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	175					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CGTTAACATCGAAAACACGAT	0.343																																						dbGAP											0													93.0	89.0	91.0					5																	106722976		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.525C>T	5.37:g.106722976G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.F175	ENST00000333274.6	37	c.525	CCDS4097.1	5																																																																																			EFNA5	-	NULL	ENSG00000184349		0.343	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	229	0.00	0	G	NM_001962		106722976	106722976	-1	no_errors	ENST00000333274	ensembl	human	known	69_37n	silent	208	12.97	31	SNP	1.000	A
EFR3B	22979	genome.wustl.edu	37	2	25360314	25360314	+	Silent	SNP	C	C	T	rs2304568	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:25360314C>T	ENST00000403714.3	+	15	1848	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	EFR3B_ENST00000405108.1_Silent_p.I407I|EFR3B_ENST00000401432.3_Silent_p.I555I|EFR3B_ENST00000402191.1_Silent_p.I520I	NM_014971.1	NP_055786.1	Q9Y2G0	EFR3B_HUMAN	EFR3 homolog B (S. cerevisiae)	555										endometrium(1)	1						TCATCAGCATCGAGCTGGCTA	0.602													C|||	21	0.00419329	0.0015	0.0	5008	,	,		18789	0.0179		0.0	False		,,,				2504	0.001					dbGAP											0													108.0	107.0	107.0					2																	25360314		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB023170	CCDS46231.1	2p24.1	2008-02-05	2007-11-14	2007-11-14	ENSG00000084710	ENSG00000084710			29155	protein-coding gene	gene with protein product			"""KIAA0953"""	KIAA0953		10231032	Standard	NM_014971		Approved	FLJ37871	uc010eyh.3	Q9Y2G0	OTTHUMG00000151988	ENST00000403714.3:c.1665C>T	2.37:g.25360314C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPL8|Q86XU6	Silent	SNP	superfamily_ARM-type_fold	p.I555	ENST00000403714.3	37	c.1665	CCDS46231.1	2																																																																																			EFR3B	-	NULL	ENSG00000084710		0.602	EFR3B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFR3B	HGNC	protein_coding	OTTHUMT00000324808.1	138	0.00	0	C	NM_014971		25360314	25360314	+1	no_errors	ENST00000403714	ensembl	human	known	69_37n	silent	94	11.21	12	SNP	0.888	T
EFTUD2	9343	genome.wustl.edu	37	17	42962674	42962674	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:42962674C>A	ENST00000426333.2	-	4	597	c.300G>T	c.(298-300)aaG>aaT	p.K100N	EFTUD2_ENST00000402521.3_Missense_Mutation_p.K65N|EFTUD2_ENST00000591382.1_Missense_Mutation_p.K100N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.K100N|RN7SL405P_ENST00000582502.1_RNA|EFTUD2_ENST00000589211.1_5'Flank	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	100					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GAGTGAATTTCTTGGTTTTCA	0.388																																					Ovarian(10;65 485 10258 29980 30707)	dbGAP											0													208.0	206.0	207.0					17																	42962674		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.300G>T	17.37:g.42962674C>A	ENSP00000392094:p.Lys100Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.K100N	ENST00000426333.2	37	c.300	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039734	0.55003	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72835	-0.69;-0.66	5.76	5.76	0.90799	.	0.092983	0.64402	D	0.000001	T	0.65729	0.2719	L	0.52823	1.66	0.58432	D	0.999998	B;B	0.12630	0.006;0.006	B;B	0.15484	0.013;0.008	T	0.63651	-0.6589	10	0.66056	D	0.02	-18.6518	11.3598	0.49636	0.0:0.86:0.0:0.14	.	100;100	B4DMC0;Q15029	.;U5S1_HUMAN	N	100;90;65	ENSP00000392094:K100N;ENSP00000385873:K65N	ENSP00000262414:K90N	K	-	3	2	EFTUD2	40318200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.089000	0.50183	2.724000	0.93272	0.585000	0.79938	AAG	EFTUD2	-	NULL	ENSG00000108883		0.388	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	418	0.00	0	C	NM_004247		42962674	42962674	-1	no_errors	ENST00000426333	ensembl	human	known	69_37n	missense	276	14.51	47	SNP	1.000	A
EHBP1	23301	genome.wustl.edu	37	2	63169954	63169954	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:63169954A>C	ENST00000263991.5	+	12	1874	c.1392A>C	c.(1390-1392)aaA>aaC	p.K464N	EHBP1_ENST00000431489.1_Missense_Mutation_p.K429N|EHBP1_ENST00000405015.3_Missense_Mutation_p.K429N|EHBP1_ENST00000405289.1_Missense_Mutation_p.K429N|EHBP1_ENST00000354487.3_Missense_Mutation_p.K429N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	464	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAGGAGTAAAAATCACCAATT	0.368																																						dbGAP											0													81.0	84.0	83.0					2																	63169954		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1392A>C	2.37:g.63169954A>C	ENSP00000263991:p.Lys464Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K464N	ENST00000263991.5	37	c.1392	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265198	0.80358	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.98	5.98	0.97165	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	L	0.28608	0.87	0.58432	D	0.999995	D;D;D	0.89917	0.996;0.998;1.0	P;D;D	0.91635	0.903;0.969;0.999	D	0.93845	0.7140	10	0.25751	T	0.34	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	429;429;464	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	N	429;429;464;429;429	ENSP00000384143:K429N;ENSP00000403783:K429N;ENSP00000263991:K464N;ENSP00000346482:K429N;ENSP00000385524:K429N	ENSP00000263991:K464N	K	+	3	2	EHBP1	63023458	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.967000	0.76079	2.289000	0.77006	0.482000	0.46254	AAA	EHBP1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000115504		0.368	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	249	0.00	0	A	NM_015252		63169954	63169954	+1	no_errors	ENST00000263991	ensembl	human	known	69_37n	missense	170	10.99	21	SNP	1.000	C
EHD1	10938	genome.wustl.edu	37	11	64621907	64621907	+	Silent	SNP	G	G	A	rs534200860		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:64621907G>A	ENST00000320631.3	-	5	1757	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.F501F	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	501	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGGCCAGCGCGAACTCCTCGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14673	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													103.0	91.0	95.0					11																	64621907		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1503C>T	11.37:g.64621907G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.F501	ENST00000320631.3	37	c.1503	CCDS8084.1	11																																																																																			EHD1	-	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	ENSG00000110047		0.637	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	56	0.00	0	G	NM_006795		64621907	64621907	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	silent	27	18.18	6	SNP	0.976	A
EHD3	30845	genome.wustl.edu	37	2	31457565	31457565	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:31457565G>T	ENST00000322054.5	+	1	363	c.78G>T	c.(76-78)aaG>aaT	p.K26N	EHD3_ENST00000541626.1_Missense_Mutation_p.K26N	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	26					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGGGGCTCAAGAAACTCTACA	0.637																																						dbGAP											0													87.0	87.0	87.0					2																	31457565		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.78G>T	2.37:g.31457565G>T	ENSP00000327116:p.Lys26Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.K26N	ENST00000322054.5	37	c.78	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026281	0.75390	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.35789	1.29;2.01	4.99	3.13	0.36017	.	0.090448	0.85682	D	0.000000	T	0.46249	0.1383	M	0.89904	3.07	0.52501	D	0.999956	P;B	0.48294	0.908;0.141	B;B	0.42555	0.391;0.241	T	0.59810	-0.7384	10	0.87932	D	0	-41.7858	10.4487	0.44509	0.2159:0.0:0.7841:0.0	.	26;26	B4DFR5;Q9NZN3	.;EHD3_HUMAN	N	26	ENSP00000440685:K26N;ENSP00000327116:K26N	ENSP00000327116:K26N	K	+	3	2	EHD3	31311069	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.529000	0.35996	1.297000	0.44761	0.561000	0.74099	AAG	EHD3	-	NULL	ENSG00000013016		0.637	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	72	0.00	0	G	NM_014600		31457565	31457565	+1	no_errors	ENST00000322054	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	T
EHMT1	79813	genome.wustl.edu	37	9	140648628	140648628	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:140648628G>A	ENST00000460843.1	+	8	1281	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	EHMT1_ENST00000334856.6_Silent_p.S387S|EHMT1_ENST00000462484.1_Silent_p.S418S|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	418					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.S387S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCCAGAGTTCGGAATCCAGCA	0.468																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											85.0	88.0	87.0					9																	140648628		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1254G>A	9.37:g.140648628G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.S418	ENST00000460843.1	37	c.1254	CCDS7050.2	9																																																																																			EHMT1	-	NULL	ENSG00000181090		0.468	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	218	0.00	0	G	NM_024757		140648628	140648628	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	silent	117	12.69	17	SNP	0.964	A
EI24	9538	genome.wustl.edu	37	11	125447783	125447783	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:125447783C>T	ENST00000530985.1	+	6	744				STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000278903.6_Intron|EI24_ENST00000343678.4_Intron|STT3A-AS1_ENST00000532714.1_RNA			O14681	EI24_HUMAN	etoposide induced 2.4						apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		tgtgGCATCTCGTTACCATCA	0.413																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000530985.1:c.745-246C>T	11.37:g.125447783C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7D6|B4DKL6|Q9BUQ1	RNA	SNP	-	NULL	ENST00000530985.1	37	NULL		11																																																																																			EI24	-	-	ENSG00000149547		0.413	EI24-002	KNOWN	basic	processed_transcript	EI24	HGNC	protein_coding	OTTHUMT00000386671.1	23	0.00	0	C	NM_004879		125447783	125447783	+1	no_errors	ENST00000527675	ensembl	human	known	69_37n	rna	31	15.79	6	SNP	0.000	T
EIF2AK1	27102	genome.wustl.edu	37	7	6080762	6080762	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:6080762C>T	ENST00000199389.6	-	9	1026	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E170K|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GTGTCAGATTCTCCAAAGCGT	0.408																																						dbGAP											0													119.0	121.0	120.0					7																	6080762		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.880G>A	7.37:g.6080762C>T	ENSP00000199389:p.Glu294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E294K	ENST00000199389.6	37	c.880	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	.	11.69	1.712927	0.30413	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.69435	-0.38;-0.4	5.68	3.89	0.44902	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.465056	0.25109	N	0.033068	T	0.43523	0.1251	N	0.17345	0.48	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.001	B;B;B	0.14578	0.011;0.006;0.002	T	0.23476	-1.0187	10	0.07990	T	0.79	-17.1982	8.0564	0.30608	0.0:0.7514:0.0:0.2486	.	170;293;294	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	K	294;170	ENSP00000199389:E294K;ENSP00000445784:E170K	ENSP00000199389:E294K	E	-	1	0	EIF2AK1	6047288	0.000000	0.05858	0.007000	0.13788	0.037000	0.13140	-0.020000	0.12525	0.772000	0.33382	-0.136000	0.14681	GAA	EIF2AK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000086232		0.408	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	171	0.00	0	C	NM_014413		6080762	6080762	-1	no_errors	ENST00000199389	ensembl	human	known	69_37n	missense	134	17.79	29	SNP	0.007	T
EIF2AK3	9451	genome.wustl.edu	37	2	88913339	88913339	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:88913339C>A	ENST00000303236.3	-	2	642	c.341G>T	c.(340-342)aGa>aTa	p.R114I	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	114					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						GGCAGCAATTCTCCCATCTAA	0.378																																					GBM(138;671 1851 16235 39058 45249)	dbGAP											0													110.0	97.0	102.0					2																	88913339		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.341G>T	2.37:g.88913339C>A	ENSP00000307235:p.Arg114Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R114I	ENST00000303236.3	37	c.341	CCDS33241.1	2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012485	0.93346	.	.	ENSG00000172071	ENST00000303236	T	0.32272	1.46	5.38	5.38	0.77491	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.63950	-0.6521	10	0.87932	D	0	-10.4461	19.1382	0.93436	0.0:1.0:0.0:0.0	.	114	Q9NZJ5	E2AK3_HUMAN	I	114	ENSP00000307235:R114I	ENSP00000307235:R114I	R	-	2	0	EIF2AK3	88694454	1.000000	0.71417	0.980000	0.43619	0.936000	0.57629	7.389000	0.79806	2.507000	0.84556	0.655000	0.94253	AGA	EIF2AK3	-	superfamily_Quinonprotein_ADH-like	ENSG00000172071		0.378	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	294	0.00	0	C	NM_004836		88913339	88913339	-1	no_errors	ENST00000303236	ensembl	human	known	69_37n	missense	190	23.90	60	SNP	0.996	A
EIF2B1	1967	genome.wustl.edu	37	12	124111550	124111550	+	Intron	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124111550A>C	ENST00000424014.2	-	5	691				EIF2B1_ENST00000537073.1_Missense_Mutation_p.L175V|EIF2B1_ENST00000539951.1_Intron	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa						cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTGCTCTGTAAAATTATGGCT	0.493																																						dbGAP											0													60.0	48.0	52.0					12																	124111550		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.482+40T>G	12.37:g.124111550A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	pfam_IF-2B-related	p.L175V	ENST00000424014.2	37	c.523	CCDS31924.1	12	.	.	.	.	.	.	.	.	.	.	A	6.176	0.400643	0.11696	.	.	ENSG00000111361	ENST00000537073	.	.	.	3.67	-3.63	0.04529	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	7	0.22109	T	0.4	.	5.5366	0.17016	0.5068:0.2519:0.2413:0.0	.	175	B4DGX0	.	V	175	.	ENSP00000444183:L175V	L	-	1	2	EIF2B1	122677503	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.557000	0.05985	-1.690000	0.01432	-3.050000	0.00069	TTA	EIF2B1	-	NULL	ENSG00000111361		0.493	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	109	0.00	0	A	NM_001414		124111550	124111550	-1	no_errors	ENST00000537073	ensembl	human	putative	69_37n	missense	52	33.33	26	SNP	0.000	C
EIF2B5	8893	genome.wustl.edu	37	3	183859757	183859757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:183859757C>T	ENST00000273783.3	+	8	1323	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.R401*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	401					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCAGGGTGTTCGAGTGGCGGC	0.562																																						dbGAP											0													126.0	112.0	117.0					3																	183859757		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1201C>T	3.37:g.183859757C>T	ENSP00000273783:p.Arg401*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q541Z1|Q96D04	Nonsense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.R401*	ENST00000273783.3	37	c.1201	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	c	37	6.229611	0.97394	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	.	.	.	5.55	5.55	0.83447	.	0.320719	0.32231	N	0.006383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.3629	13.5267	0.61599	0.1554:0.8446:0.0:0.0	.	.	.	.	X	401;401;157	.	ENSP00000273783:R401X	R	+	1	2	EIF2B5	185342451	0.039000	0.19947	0.956000	0.39512	0.991000	0.79684	3.088000	0.50175	2.630000	0.89119	0.561000	0.74099	CGA	EIF2B5	-	superfamily_Trimer_LpxA-like	ENSG00000145191		0.562	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	217	0.46	1	C			183859757	183859757	+1	no_errors	ENST00000273783	ensembl	human	known	69_37n	nonsense	152	14.61	26	SNP	0.336	T
AGO4	192670	genome.wustl.edu	37	1	36307244	36307244	+	Nonsense_Mutation	SNP	C	C	T	rs200474840	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:36307244C>T	ENST00000373210.3	+	15	2313	c.2068C>T	c.(2068-2070)Cga>Tga	p.R690*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	690	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AATAGCAATTCGAAAGGCATG	0.388																																						dbGAP											0													100.0	101.0	101.0					1																	36307244		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2068C>T	1.37:g.36307244C>T	ENSP00000362306:p.Arg690*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD27	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R690*	ENST00000373210.3	37	c.2068	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.578855	0.99210	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.87	5.87	0.94306	.	0.050858	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2697	16.4985	0.84251	0.1313:0.8687:0.0:0.0	.	.	.	.	X	690	.	ENSP00000362306:R690X	R	+	1	2	EIF2C4	36079831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.599000	0.46231	2.785000	0.95823	0.655000	0.94253	CGA	EIF2C4	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000134698		0.388	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C4	HGNC	protein_coding	OTTHUMT00000012213.3	239	0.00	0	C	NM_017629		36307244	36307244	+1	no_errors	ENST00000373210	ensembl	human	known	69_37n	nonsense	130	27.22	49	SNP	1.000	T
AGO3	192669	genome.wustl.edu	37	1	36479288	36479288	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:36479288C>T	ENST00000373191.4	+	10	1556	c.1207C>T	c.(1207-1209)Cgg>Tgg	p.R403W	RP4-665N4.8_ENST00000466576.2_RNA|RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.R169W	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	403					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										ATTTAAAGTTCGGGATGAAAT	0.373																																						dbGAP											0													103.0	105.0	104.0					1																	36479288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1207C>T	1.37:g.36479288C>T	ENSP00000362287:p.Arg403Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R403W	ENST00000373191.4	37	c.1207	CCDS399.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359839	0.82353	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.05513	3.43;3.43	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	L	0.36672	1.1	0.80722	D	1	P	0.35872	0.525	P	0.44860	0.462	T	0.04752	-1.0929	10	0.87932	D	0	-17.3148	18.6735	0.91519	0.0:1.0:0.0:0.0	.	403	Q9H9G7	AGO3_HUMAN	W	403;169	ENSP00000362287:R403W;ENSP00000246314:R169W	ENSP00000246314:R169W	R	+	1	2	EIF2C3	36251875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.674000	0.61612	2.413000	0.81919	0.650000	0.86243	CGG	EIF2C3	-	NULL	ENSG00000126070		0.373	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	172	0.00	0	C	NM_024852		36479288	36479288	+1	no_errors	ENST00000373191	ensembl	human	known	69_37n	missense	57	16.90	12	SNP	1.000	T
EIF3B	8662	genome.wustl.edu	37	7	2406181	2406181	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:2406181C>A	ENST00000360876.4	+	8	1367	c.1311C>A	c.(1309-1311)ttC>ttA	p.F437L	EIF3B_ENST00000397011.2_Missense_Mutation_p.F437L	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATGGCAAATTCTTTGCCAGAA	0.483																																						dbGAP											0													90.0	88.0	89.0					7																	2406181		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1311C>A	7.37:g.2406181C>A	ENSP00000354125:p.Phe437Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.F437L	ENST00000360876.4	37	c.1311	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352190	0.61183	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.04454	3.62;3.62	5.54	1.19	0.21007	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.58810	1.83	0.51767	D	0.99993	P	0.35124	0.485	B	0.34489	0.184	T	0.26189	-1.0110	10	0.87932	D	0	-31.2117	11.5768	0.50866	0.0:0.7145:0.0:0.2855	.	437	P55884	EIF3B_HUMAN	L	437;437;437;361	ENSP00000354125:F437L;ENSP00000380206:F437L	ENSP00000316638:F437L	F	+	3	2	EIF3B	2372707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.871000	0.28023	0.319000	0.23209	0.650000	0.86243	TTC	EIF3B	-	pirsf_eIF3b	ENSG00000106263		0.483	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	131	0.00	0	C			2406181	2406181	+1	no_errors	ENST00000360876	ensembl	human	known	69_37n	missense	158	17.28	33	SNP	1.000	A
EIF3D	8664	genome.wustl.edu	37	22	36919318	36919318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:36919318G>A	ENST00000216190.8	-	6	773	c.403C>T	c.(403-405)Cga>Tga	p.R135*	EIF3D_ENST00000541106.1_Nonsense_Mutation_p.R86*|EIF3D_ENST00000405442.1_Nonsense_Mutation_p.R135*	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D									p.R135*(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TTCTGCAGTCGAATGCGTTCT	0.423																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											173.0	171.0	172.0					22																	36919318		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.403C>T	22.37:g.36919318G>A	ENSP00000216190:p.Arg135*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.R135*	ENST00000216190.8	37	c.403	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.793603	0.96952	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4128	14.7059	0.69189	0.0:0.0:0.855:0.145	.	.	.	.	X	135;135;86;135;135;135;135	.	ENSP00000216190:R135X	R	-	1	2	EIF3D	35249264	1.000000	0.71417	0.991000	0.47740	0.695000	0.40330	6.821000	0.75272	2.793000	0.96121	0.655000	0.94253	CGA	EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	ENSG00000100353		0.423	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	272	0.00	0	G			36919318	36919318	-1	no_errors	ENST00000216190	ensembl	human	known	69_37n	nonsense	202	12.88	30	SNP	0.999	A
EIF4G1	1981	genome.wustl.edu	37	3	184041274	184041274	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:184041274G>A	ENST00000346169.2	+	15	2438	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	EIF4G1_ENST00000382330.3_Missense_Mutation_p.E730K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E684K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E683K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E527K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E637K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E560K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E730K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E636K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E723K|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E730K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E559K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E528K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E724K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	723	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTAATGACCGAAGATATAAA	0.542																																						dbGAP											0													118.0	129.0	126.0					3																	184041274		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2167G>A	3.37:g.184041274G>A	ENSP00000316879:p.Glu723Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E730K	ENST00000346169.2	37	c.2188	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.315920	0.95655	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16897	3.79;3.79;3.7;2.73;2.73;3.79;2.9;3.59;3.79;3.72;3.82;3.79;3.79;3.82;2.31;3.63;3.61;3.57	5.36	5.36	0.76844	.	0.232501	0.43579	D	0.000548	T	0.41373	0.1156	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.76494	0.999;0.995;0.995;0.998	P;P;P;P	0.62649	0.905;0.787;0.787;0.836	T	0.11616	-1.0580	10	0.33940	T	0.23	-13.2476	19.097	0.93257	0.0:0.0:1.0:0.0	.	730;724;723;730	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	723;683;636;724;731;730;664;559;730;637;724;723;730;684;559;560;528;527	ENSP00000316879:E723K;ENSP00000391935:E683K;ENSP00000376320:E636K;ENSP00000391412:E724K;ENSP00000413159:E731K;ENSP00000371767:E730K;ENSP00000403269:E664K;ENSP00000317600:E559K;ENSP00000338020:E730K;ENSP00000407682:E637K;ENSP00000343450:E724K;ENSP00000323737:E723K;ENSP00000416255:E730K;ENSP00000395974:E684K;ENSP00000398145:E559K;ENSP00000399858:E560K;ENSP00000411826:E528K;ENSP00000404754:E527K	ENSP00000323737:E723K	E	+	1	0	EIF4G1	185523968	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	7.632000	0.83247	2.500000	0.84329	0.467000	0.42956	GAA	EIF4G1	-	NULL	ENSG00000114867		0.542	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	130	0.00	0	G	NM_182917		184041274	184041274	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	92	25.20	31	SNP	1.000	A
ELAVL1	1994	genome.wustl.edu	37	19	8056636	8056636	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:8056636A>C	ENST00000407627.2	-	2	193	c.64T>G	c.(64-66)Ttg>Gtg	p.L22V	ELAVL1_ENST00000351593.5_Missense_Mutation_p.L49V|ELAVL1_ENST00000596459.1_Missense_Mutation_p.L22V|ELAVL1_ENST00000593807.1_Missense_Mutation_p.L22V	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	22	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTGACGATCAAATTCGTTCTC	0.433																																						dbGAP											0													176.0	152.0	160.0					19																	8056636		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.64T>G	19.37:g.8056636A>C	ENSP00000385269:p.Leu22Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.L49V	ENST00000407627.2	37	c.145	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886526	0.72410	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.79033	-1.23;-1.23	5.67	0.471	0.16752	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.79082	0.4386	L	0.38692	1.165	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.73167	-0.4068	10	0.36615	T	0.2	.	9.7948	0.40728	0.4537:0.0:0.5463:0.0	.	22	Q15717	ELAV1_HUMAN	V	22;49	ENSP00000385269:L22V;ENSP00000264073:L49V	ENSP00000264073:L49V	L	-	1	2	ELAVL1	7962636	0.993000	0.37304	0.305000	0.25099	0.994000	0.84299	0.410000	0.21098	-0.181000	0.10619	0.533000	0.62120	TTG	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	ENSG00000066044		0.433	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	344	0.00	0	A	NM_001419		8056636	8056636	-1	no_errors	ENST00000351593	ensembl	human	known	69_37n	missense	221	26.09	78	SNP	0.999	C
ELAVL4	1996	genome.wustl.edu	37	1	50666727	50666727	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:50666727C>T	ENST00000371823.4	+	7	1244	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	ELAVL4_ENST00000371824.1_Silent_p.F326F|ELAVL4_ENST00000448907.2_Silent_p.F329F|ELAVL4_ENST00000357083.4_Silent_p.F343F|ELAVL4_ENST00000371821.1_Silent_p.F345F|ELAVL4_ENST00000371819.1_Silent_p.F331F|ELAVL4_ENST00000371827.1_Silent_p.F326F	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	340	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.F340F(1)|p.F343F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCAAGGGATTCGGCTTTGTCA	0.517																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											114.0	101.0	106.0					1																	50666727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.1020C>T	1.37:g.50666727C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.F345	ENST00000371823.4	37	c.1035	CCDS553.1	1																																																																																			ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000162374		0.517	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	115	0.00	0	C	NM_021952		50666727	50666727	+1	no_errors	ENST00000371821	ensembl	human	known	69_37n	silent	42	31.15	19	SNP	0.980	T
ELF4	2000	genome.wustl.edu	37	X	129200983	129200983	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:129200983G>A	ENST00000308167.5	-	9	2084	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	ELF4_ENST00000335997.7_Missense_Mutation_p.L569F	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCTCTCAGGAGCTCCCTCAGG	0.602			T	ERG	AML																																	dbGAP		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													67.0	70.0	69.0					X																	129200983		2203	4299	6502	-	-	-	SO:0001583	missense	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1705C>T	X.37:g.129200983G>A	ENSP00000311280:p.Leu569Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.L569F	ENST00000308167.5	37	c.1705	CCDS14617.1	X	.	.	.	.	.	.	.	.	.	.	g	17.90	3.502731	0.64298	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.22336	1.96;1.96	4.38	4.38	0.52667	.	0.356499	0.20872	N	0.084149	T	0.28101	0.0693	L	0.27053	0.805	0.31399	N	0.676887	D	0.69078	0.997	P	0.60789	0.879	T	0.14504	-1.0470	10	0.72032	D	0.01	.	11.2545	0.49045	0.0:0.0:1.0:0.0	.	569	Q99607	ELF4_HUMAN	F	569	ENSP00000338608:L569F;ENSP00000311280:L569F	ENSP00000311280:L569F	L	-	1	0	ELF4	129028664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.498000	0.60373	2.030000	0.59900	0.431000	0.28591	CTC	ELF4	-	NULL	ENSG00000102034		0.602	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1	68	0.00	0	G	NM_001421		129200983	129200983	-1	no_errors	ENST00000308167	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	A
ELFN1	392617	genome.wustl.edu	37	7	1784520	1784520	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:1784520C>T	ENST00000424383.2	+	3	775	c.288C>T	c.(286-288)atC>atT	p.I96I	ELFN1_ENST00000561626.1_Silent_p.I96I|ELFN1_ENST00000541472.1_Silent_p.I96I|AC074389.9_ENST00000453348.1_lincRNA			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	96					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						AGAACGAGATCGGCTACATCG	0.632																																						dbGAP											0													153.0	134.0	140.0					7																	1784520		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.288C>T	7.37:g.1784520C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BS57	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I96	ENST00000424383.2	37	c.288	CCDS59046.1	7																																																																																			ELFN1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000225968		0.632	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	71	0.00	0	C	NM_001128636		1784520	1784520	+1	no_errors	ENST00000424383	ensembl	human	known	69_37n	silent	31	13.89	5	SNP	0.893	T
ELK1	2002	genome.wustl.edu	37	X	47500670	47500670	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47500670G>A	ENST00000247161.3	-	2	270	c.171C>T	c.(169-171)taC>taT	p.Y57Y	ELK1_ENST00000343894.4_Silent_p.Y57Y|ELK1_ENST00000376983.3_Silent_p.Y57Y|ELK1_ENST00000592066.1_Silent_p.Y3Y	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	57					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGAGCTTGTCGTAATTCATGT	0.527																																						dbGAP											0													130.0	104.0	113.0					X																	47500670		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.171C>T	X.37:g.47500670G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Silent	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.Y57	ENST00000247161.3	37	c.171	CCDS14283.1	X																																																																																			ELK1	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000126767		0.527	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	300	0.00	0	G	NM_005229		47500670	47500670	-1	no_errors	ENST00000247161	ensembl	human	known	69_37n	silent	262	12.58	38	SNP	0.936	A
ELK3	2004	genome.wustl.edu	37	12	96640916	96640916	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:96640916G>A	ENST00000228741.3	+	3	732	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	136					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAGCCGCAACGAATACATCCA	0.617																																						dbGAP											0													61.0	61.0	61.0					12																	96640916		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.406G>A	12.37:g.96640916G>A	ENSP00000228741:p.Glu136Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	pfam_Ets,smart_Ets,prints_Ets,pfscan_Ets	p.E136K	ENST00000228741.3	37	c.406	CCDS9060.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998063	0.74818	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.55413	0.52;0.52	5.5	4.59	0.56863	.	0.193152	0.52532	D	0.000069	T	0.50154	0.1599	M	0.69823	2.125	0.80722	D	1	P	0.49635	0.926	B	0.35114	0.196	T	0.61397	-0.7071	10	0.72032	D	0.01	.	16.1807	0.81895	0.0:0.1335:0.8665:0.0	.	136	P41970	ELK3_HUMAN	K	136	ENSP00000228741:E136K;ENSP00000447857:E136K	ENSP00000228741:E136K	E	+	1	0	ELK3	95165047	1.000000	0.71417	0.976000	0.42696	0.855000	0.48748	9.357000	0.97099	1.278000	0.44430	0.462000	0.41574	GAA	ELK3	-	NULL	ENSG00000111145		0.617	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK3	HGNC	protein_coding	OTTHUMT00000408694.1	77	0.00	0	G	NM_005230		96640916	96640916	+1	no_errors	ENST00000228741	ensembl	human	known	69_37n	missense	83	11.58	11	SNP	1.000	A
ELL2	22936	genome.wustl.edu	37	5	95234462	95234462	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:95234462C>T	ENST00000237853.4	-	8	1356	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	336					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GTGAGATATTCGGGCTTTTTT	0.448																																						dbGAP											0													115.0	135.0	129.0					5																	95234462		2190	4297	6487	-	-	-	SO:0001583	missense	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1007G>A	5.37:g.95234462C>T	ENSP00000237853:p.Arg336Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R336Q	ENST00000237853.4	37	c.1007	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.559976	0.96514	.	.	ENSG00000118985	ENST00000237853	T	0.40225	1.04	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.66944	0.2841	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.69323	-0.5175	10	0.87932	D	0	-1.3984	19.3776	0.94518	0.0:1.0:0.0:0.0	.	336	O00472	ELL2_HUMAN	Q	336	ENSP00000237853:R336Q	ENSP00000237853:R336Q	R	-	2	0	ELL2	95260218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.735000	0.93741	0.650000	0.86243	CGA	ELL2	-	NULL	ENSG00000118985		0.448	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	115	0.00	0	C	NM_012081		95234462	95234462	-1	no_errors	ENST00000237853	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	1.000	T
ELMO1	9844	genome.wustl.edu	37	7	36917685	36917685	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:36917685T>G	ENST00000310758.4	-	19	2399	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N	ELMO1_ENST00000448602.1_Missense_Mutation_p.K584N|ELMO1_ENST00000396040.2_Missense_Mutation_p.K104N|ELMO1_ENST00000341056.3_Missense_Mutation_p.K286N|ELMO1_ENST00000396045.3_Missense_Mutation_p.K104N|ELMO1_ENST00000442504.1_Missense_Mutation_p.K584N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	584	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AATGCAGGACTTTGTGATTTG	0.453																																						dbGAP											0													82.0	74.0	77.0					7																	36917685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1752A>C	7.37:g.36917685T>G	ENSP00000312185:p.Lys584Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.K584N	ENST00000310758.4	37	c.1752	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	T	20.6	4.015997	0.75161	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	5.81	3.0	0.34707	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.70245	0.3202	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73940	-0.3824	10	0.87932	D	0	.	9.8919	0.41296	0.0:0.7193:0.0:0.2807	.	584	Q92556	ELMO1_HUMAN	N	286;104;584;488;104;584;584	ENSP00000342142:K286N;ENSP00000379360:K104N;ENSP00000312185:K584N;ENSP00000379355:K104N;ENSP00000406952:K584N;ENSP00000394458:K584N	ENSP00000312185:K584N	K	-	3	2	ELMO1	36884210	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.608000	0.24223	0.791000	0.33826	-0.242000	0.12053	AAA	ELMO1	-	NULL	ENSG00000155849		0.453	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	319	0.00	0	T	NM_130442		36917685	36917685	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	missense	160	29.20	66	SNP	1.000	G
ELMO1	9844	genome.wustl.edu	37	7	37262286	37262286	+	Missense_Mutation	SNP	T	T	G	rs537643098		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:37262286T>G	ENST00000310758.4	-	10	1361	c.714A>C	c.(712-714)gaA>gaC	p.E238D	ELMO1_ENST00000448602.1_Missense_Mutation_p.E238D|ELMO1_ENST00000442504.1_Missense_Mutation_p.E238D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	238					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGTTTGGATTTCTTGATCTG	0.413																																						dbGAP											0													115.0	106.0	109.0					7																	37262286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.714A>C	7.37:g.37262286T>G	ENSP00000312185:p.Glu238Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E238D	ENST00000310758.4	37	c.714	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.61|13.61	2.289279|2.289279	0.40494|0.40494	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	T;T;T|.	0.53206|.	0.63;0.63;0.63|.	5.66|5.66	3.3|3.3	0.37823|0.37823	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.053759|.	0.64402|.	D|.	0.000001|.	T|T	0.49304|0.49304	0.1549|0.1549	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.18263|.	0.021|.	T|T	0.29701|0.29701	-1.0003|-1.0003	10|5	0.20046|.	T|.	0.44|.	.|.	8.3676|8.3676	0.32395|0.32395	0.0:0.2123:0.0:0.7877|0.0:0.2123:0.0:0.7877	.|.	238|.	Q92556|.	ELMO1_HUMAN|.	D|T	238;142;238;238|3	ENSP00000312185:E238D;ENSP00000406952:E238D;ENSP00000394458:E238D|.	ENSP00000312185:E238D|.	E|K	-|-	3|2	2|0	ELMO1|ELMO1	37228811|37228811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.508000|1.508000	0.35769|0.35769	0.522000|0.522000	0.28464|0.28464	0.533000|0.533000	0.62120|0.62120	GAA|AAA	ELMO1	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000155849		0.413	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	317	0.00	0	T	NM_130442		37262286	37262286	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	missense	214	11.52	28	SNP	1.000	G
ELMOD1	55531	genome.wustl.edu	37	11	107488834	107488834	+	5'UTR	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:107488834A>G	ENST00000265840.7	+	0	184				ELMOD1_ENST00000443271.2_5'UTR|ELMOD1_ENST00000531234.1_5'UTR	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCCACAGTTGACACTTACTTT	0.403																																						dbGAP											0													52.0	45.0	47.0					11																	107488834		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.-82A>G	11.37:g.107488834A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E167|G5E9S5|Q9NPW3	RNA	SNP	-	NULL	ENST00000265840.7	37	NULL	CCDS44723.1	11																																																																																			ELMOD1	-	-	ENSG00000110675		0.403	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ELMOD1	HGNC	protein_coding	OTTHUMT00000389406.1	90	0.00	0	A	NM_018712		107488834	107488834	+1	no_errors	ENST00000524378	ensembl	human	putative	69_37n	rna	78	13.33	12	SNP	0.001	G
ELOVL3	83401	genome.wustl.edu	37	10	103986365	103986365	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:103986365C>T	ENST00000370005.3	+	1	281	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	20					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTATAACTTCGAGCTGTCCA	0.557																																						dbGAP											0													112.0	94.0	100.0					10																	103986365		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.60C>T	10.37:g.103986365C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZL3|Q8N180	Silent	SNP	pfam_GNS1_SUR4	p.F20	ENST00000370005.3	37	c.60	CCDS7531.1	10																																																																																			ELOVL3	-	NULL	ENSG00000119915		0.557	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL3	HGNC	protein_coding	OTTHUMT00000050030.1	154	0.00	0	C	NM_152310		103986365	103986365	+1	no_errors	ENST00000370005	ensembl	human	known	69_37n	silent	134	12.42	19	SNP	1.000	T
ELP2	55250	genome.wustl.edu	37	18	33738853	33738853	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:33738853A>C	ENST00000358232.6	+	14	1583	c.1520A>C	c.(1519-1521)aAa>aCa	p.K507T	ELP2_ENST00000351393.6_Missense_Mutation_p.K481T|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.K502T|ELP2_ENST00000423854.2_Missense_Mutation_p.K437T|ELP2_ENST00000442325.2_Missense_Mutation_p.K572T|ELP2_ENST00000542824.1_Missense_Mutation_p.K437T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	507					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTATCAAATAAAGCTGTCTTT	0.343																																						dbGAP											0													64.0	63.0	63.0					18																	33738853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1520A>C	18.37:g.33738853A>C	ENSP00000350967:p.Lys507Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K507T	ENST00000358232.6	37	c.1520	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	A	23.1	4.376598	0.82682	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.70399	-0.48;-0.27;0.04;0.2;-0.26;-0.23	5.51	5.51	0.81932	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	M	0.94021	3.485	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.994;0.994;0.995;0.997;0.996;0.992	D	0.89761	0.3947	10	0.52906	T	0.07	-21.1064	13.8568	0.63531	1.0:0.0:0.0:0.0	.	502;572;437;437;481;507	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	T	507;481;572;437;502;437	ENSP00000350967:K507T;ENSP00000257191:K481T;ENSP00000414851:K572T;ENSP00000391202:K437T;ENSP00000316051:K502T;ENSP00000443800:K437T	ENSP00000316051:K502T	K	+	2	0	ELP2	31992851	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.508000	0.90525	2.228000	0.72767	0.477000	0.44152	AAA	ELP2	-	superfamily_WD40_repeat_dom	ENSG00000134759		0.343	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	281	0.00	0	A	NM_018255		33738853	33738853	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	missense	235	12.96	35	SNP	1.000	C
ELTD1	64123	genome.wustl.edu	37	1	79403498	79403498	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:79403498C>T	ENST00000370742.3	-	6	817	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	252					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTACCTATATCCGTTGAATTT	0.378																																						dbGAP											0													147.0	135.0	138.0					1																	79403498		1821	4080	5901	-	-	-	SO:0001583	missense	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.754G>A	1.37:g.79403498C>T	ENSP00000359778:p.Asp252Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AR71|Q5KU34	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D252N	ENST00000370742.3	37	c.754	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256448	0.22965	.	.	ENSG00000162618	ENST00000370742	T	0.03301	3.98	5.79	5.79	0.91817	Domain of unknown function DUF3497 (1);	0.046877	0.85682	D	0.000000	T	0.10423	0.0255	L	0.58101	1.795	0.58432	D	0.999997	D	0.67145	0.996	D	0.70935	0.971	T	0.08371	-1.0725	9	.	.	.	.	20.0424	0.97595	0.0:1.0:0.0:0.0	.	252	Q9HBW9	ELTD1_HUMAN	N	252	ENSP00000359778:D252N	.	D	-	1	0	ELTD1	79176086	1.000000	0.71417	0.968000	0.41197	0.455000	0.32408	6.088000	0.71371	2.725000	0.93324	0.557000	0.71058	GAT	ELTD1	-	pfam_DUF3497	ENSG00000162618		0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	185	0.00	0	C	NM_022159		79403498	79403498	-1	no_errors	ENST00000370742	ensembl	human	known	69_37n	missense	107	13.71	17	SNP	1.000	T
EMB	133418	genome.wustl.edu	37	5	49699028	49699028	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:49699028C>A	ENST00000303221.5	-	6	1076	c.861G>T	c.(859-861)aaG>aaT	p.K287N	EMB_ENST00000514111.1_Missense_Mutation_p.K237N|EMB_ENST00000508934.1_Missense_Mutation_p.K233N|EMB_ENST00000506190.1_5'Flank	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	287					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GCTTCTTTTTCTTTTGTGTGT	0.328																																						dbGAP											0													25.0	29.0	27.0					5																	49699028		2200	4294	6494	-	-	-	SO:0001583	missense	0			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.861G>T	5.37:g.49699028C>A	ENSP00000302289:p.Lys287Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6S3|B7Z902	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.K287N	ENST00000303221.5	37	c.861	CCDS3953.1	5	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789023	0.31685	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.53423	0.62;0.71;0.66	4.92	3.14	0.36123	.	0.442134	0.26180	N	0.025871	T	0.60077	0.2241	M	0.65498	2.005	0.39367	D	0.966021	D;D	0.69078	0.997;0.997	P;D	0.63703	0.879;0.917	T	0.59762	-0.7393	9	.	.	.	-9.3347	9.3907	0.38372	0.0:0.8219:0.0:0.1781	.	233;287	D6RDX7;Q6PCB8	.;EMB_HUMAN	N	287;259;233;237	ENSP00000302289:K287N;ENSP00000425215:K233N;ENSP00000426404:K237N	.	K	-	3	2	EMB	49734785	1.000000	0.71417	0.066000	0.19879	0.259000	0.26198	2.302000	0.43637	0.597000	0.29811	0.555000	0.69702	AAG	EMB	-	NULL	ENSG00000170571		0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMB	HGNC	protein_coding	OTTHUMT00000253853.1	155	0.00	0	C	NM_198449		49699028	49699028	-1	no_errors	ENST00000303221	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	0.876	A
EMC1	23065	genome.wustl.edu	37	1	19557343	19557343	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19557343G>T	ENST00000477853.1	-	17	2101	c.2059C>A	c.(2059-2061)Cga>Aga	p.R687R	EMC1_ENST00000375199.3_Silent_p.R686R|EMC1_ENST00000375208.3_Silent_p.R665R|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	687						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCTACCTTTCGAAGCCGATAT	0.498																																						dbGAP											0													212.0	205.0	208.0					1																	19557343		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2059C>A	1.37:g.19557343G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Nonsense_Mutation	SNP	pfam_DUF1620	p.S420*	ENST00000477853.1	37	c.1259	CCDS190.1	1	.	.	.	.	.	.	.	.	.	.	G	8.924	0.961748	0.18583	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.4762	13.6873	0.62524	0.0:0.0:0.8451:0.1549	.	.	.	.	X	420	.	.	S	-	2	0	KIAA0090	19429930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.631000	0.54280	2.618000	0.88619	0.561000	0.74099	TCG	EMC1	-	NULL	ENSG00000127463		0.498	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	97	0.00	0	G	NM_015047		19557343	19557343	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000375197	ensembl	human	putative	69_37n	nonsense	99	14.52	18	SNP	1.000	T
EMC1	23065	genome.wustl.edu	37	1	19557900	19557900	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19557900G>T	ENST00000477853.1	-	16	1841	c.1799C>A	c.(1798-1800)tCt>tAt	p.S600Y	EMC1_ENST00000375199.3_Missense_Mutation_p.S599Y|EMC1_ENST00000375208.3_Missense_Mutation_p.S578Y|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	600						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GACATACAGAGAACTCATTCC	0.502																																						dbGAP											0													49.0	49.0	49.0					1																	19557900		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1799C>A	1.37:g.19557900G>T	ENSP00000420608:p.Ser600Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.S600Y	ENST00000477853.1	37	c.1799	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.024|2.024	-0.423947|-0.423947	0.04734|0.04734	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.23147	.|1.92;1.92;1.92	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.378995	.|0.30483	.|N	.|0.009535	T|T	0.16214|0.16214	0.0390|0.0390	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;B;P;B	.|0.36959	.|0.034;0.015;0.575;0.44	.|B;B;B;B	.|0.34242	.|0.026;0.012;0.178;0.086	T|T	0.04723|0.04723	-1.0931|-1.0931	5|10	.|0.12766	.|T	.|0.61	.|.	9.634|9.634	0.39795|0.39795	0.0966:0.0:0.9034:0.0|0.0966:0.0:0.9034:0.0	.|.	.|578;599;599;600	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	L|Y	333|600;599;578	.|ENSP00000420608:S600Y;ENSP00000364345:S599Y;ENSP00000364354:S578Y	.|ENSP00000364345:S599Y	F|S	-|-	3|2	2|0	KIAA0090|KIAA0090	19430487|19430487	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.936000|0.936000	0.57629|0.57629	4.741000|4.741000	0.62095|0.62095	2.408000|2.408000	0.81797|0.81797	0.462000|0.462000	0.41574|0.41574	TTC|TCT	EMC1	-	NULL	ENSG00000127463		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	91	0.00	0	G	NM_015047		19557900	19557900	-1	no_errors	ENST00000477853	ensembl	human	known	69_37n	missense	48	12.73	7	SNP	0.979	T
EMC1	23065	genome.wustl.edu	37	1	19563662	19563662	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19563662T>C	ENST00000477853.1	-	12	1325	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	EMC1_ENST00000375199.3_Missense_Mutation_p.H427R|EMC1_ENST00000375208.3_Missense_Mutation_p.H406R|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	428						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AAGTAGCAGATGATCCTCTGT	0.463																																						dbGAP											0													194.0	189.0	191.0					1																	19563662		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1283A>G	1.37:g.19563662T>C	ENSP00000420608:p.His428Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.H428R	ENST00000477853.1	37	c.1283	CCDS190.1	1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521687	0.44866	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.24350	1.87;1.87;1.86	5.92	5.92	0.95590	.	0.085942	0.85682	D	0.000000	T	0.28499	0.0705	M	0.72118	2.19	0.80722	D	1	B;B;B;B	0.16166	0.016;0.016;0.01;0.006	B;B;B;B	0.18561	0.022;0.022;0.006;0.003	T	0.10706	-1.0618	10	0.12430	T	0.62	.	13.738	0.62829	0.0:0.0:0.0:1.0	.	406;427;428;428	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	R	428;427;406	ENSP00000420608:H428R;ENSP00000364345:H427R;ENSP00000364354:H406R	ENSP00000364345:H427R	H	-	2	0	KIAA0090	19436249	1.000000	0.71417	0.929000	0.37066	0.980000	0.70556	5.171000	0.64996	2.263000	0.75096	0.533000	0.62120	CAT	EMC1	-	NULL	ENSG00000127463		0.463	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	165	0.00	0	T	NM_015047		19563662	19563662	-1	no_errors	ENST00000477853	ensembl	human	known	69_37n	missense	136	10.39	16	SNP	0.991	C
EML3	256364	genome.wustl.edu	37	11	62370688	62370688	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:62370688C>A	ENST00000394773.2	-	20	2596	c.2289G>T	c.(2287-2289)aaG>aaT	p.K763N	MTA2_ENST00000527204.1_5'Flank|EML3_ENST00000278845.4_Missense_Mutation_p.K764N|RP11-831H9.3_ENST00000532626.1_RNA|MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.K546N|EML3_ENST00000529309.1_Missense_Mutation_p.K763N|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000494176.2_Missense_Mutation_p.K735N	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	763						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATAGCGATTCTTCAGCTGCT	0.627																																						dbGAP											0													92.0	92.0	92.0					11																	62370688		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.2289G>T	11.37:g.62370688C>A	ENSP00000378254:p.Lys763Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW7|Q8NA55	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E758*	ENST00000394773.2	37	c.2272	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.92|11.92	1.782104|1.782104	0.31502|0.31502	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000439994;ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T;T	.|0.41400	.|2.3;1.5;1.0;1.0;1.62;1.58	4.78|4.78	3.64|3.64	0.41730|0.41730	.|WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.|0.104257	.|0.64402	.|D	.|0.000006	.|T	.|0.29389	.|0.0732	N|N	0.25332|0.25332	0.735|0.735	0.28884|0.28884	N|N	0.894215|0.894215	.|B;B;B;B;B	.|0.33345	.|0.409;0.061;0.001;0.181;0.145	.|B;B;B;B;B	.|0.34536	.|0.185;0.062;0.016;0.034;0.05	.|T	.|0.21280	.|-1.0250	.|10	.|0.38643	.|T	.|0.18	-18.6061|-18.6061	11.171|11.171	0.48571|0.48571	0.0:0.8906:0.0:0.1094|0.0:0.8906:0.0:0.1094	.|.	.|763;763;546;764;735	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	X|N	758|14;763;764;546;735;763	.|ENSP00000409611:K14N;ENSP00000378254:K763N;ENSP00000278845:K764N;ENSP00000433417:K546N;ENSP00000435064:K735N;ENSP00000434513:K763N	.|ENSP00000278845:K764N	E|K	-|-	1|3	0|2	EML3|EML3	62127264|62127264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.414000|2.414000	0.44627|0.44627	2.202000|2.202000	0.70862|0.70862	0.561000|0.561000	0.74099|0.74099	GAA|AAG	EML3	-	pfscan_WD40_repeat_dom	ENSG00000149499		0.627	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	86	0.00	0	C	NM_153265		62370688	62370688	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000394776	ensembl	human	novel	69_37n	nonsense	39	30.36	17	SNP	1.000	A
EMR1	2015	genome.wustl.edu	37	19	6908700	6908700	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6908700G>T	ENST00000312053.4	+	10	1076	c.1039G>T	c.(1039-1041)Gtc>Ttc	p.V347F	EMR1_ENST00000250572.8_Splice_Site_p.V347F|EMR1_ENST00000381404.4_Splice_Site_p.V295F|EMR1_ENST00000381407.5_Splice_Site_p.V206F|EMR1_ENST00000450315.3_Splice_Site_p.V170F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	347	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGGACGCAGGTCTCCTTTTG	0.388																																						dbGAP											0													92.0	97.0	96.0					19																	6908700		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1039-1G>T	19.37:g.6908700G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.V347F	ENST00000312053.4	37	c.1039	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127864	0.20959	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79141	-1.2;-1.21;-1.24;-0.02;0.31	3.7	0.307	0.15811	.	.	.	.	.	T	0.75752	0.3892	L	0.57536	1.79	0.58432	D	0.999999	P;P;D;P;D	0.59767	0.942;0.855;0.986;0.883;0.976	P;B;P;B;P	0.54100	0.691;0.212;0.742;0.361;0.556	T	0.71111	-0.4687	8	.	.	.	.	3.4405	0.07461	0.246:0.2187:0.5354:0.0	.	170;206;347;295;347	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	F	347;347;295;347;206;170	ENSP00000311545:V347F;ENSP00000370811:V295F;ENSP00000250572:V347F;ENSP00000370814:V206F;ENSP00000405974:V170F	.	V	+	1	0	EMR1	6859700	0.452000	0.25713	0.018000	0.16275	0.007000	0.05969	0.434000	0.21494	0.342000	0.23796	0.655000	0.94253	GTC	EMR1	-	NULL	ENSG00000174837		0.388	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	482	0.00	0	G		Missense_Mutation	6908700	6908700	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	missense	297	21.84	83	SNP	0.017	T
EMR1	2015	genome.wustl.edu	37	19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T	rs376031317		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6913826C>T	ENST00000312053.4	+	11	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_ENST00000250572.8_Missense_Mutation_p.R429W|EMR1_ENST00000381404.4_Missense_Mutation_p.R377W|EMR1_ENST00000381407.5_Missense_Mutation_p.R288W|EMR1_ENST00000450315.3_Missense_Mutation_p.R252W	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498																																						dbGAP											0													139.0	127.0	131.0					19																	6913826		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1285C>T	19.37:g.6913826C>T	ENSP00000311545:p.Arg429Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.R429W	ENST00000312053.4	37	c.1285	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726029	0.48833	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.79033	-1.17;-1.2;-1.23;-0.02;0.3	4.95	2.48	0.30137	.	.	.	.	.	T	0.79753	0.4500	L	0.50333	1.59	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.999	P;P;P;P;P	0.60012	0.867;0.623;0.804;0.543;0.642	T	0.66344	-0.5947	9	0.51188	T	0.08	.	6.496	0.22142	0.2903:0.5374:0.1724:0.0	.	252;288;429;377;429	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	W	429;429;377;429;288;252	ENSP00000311545:R429W;ENSP00000370811:R377W;ENSP00000250572:R429W;ENSP00000370814:R288W;ENSP00000405974:R252W	ENSP00000250572:R429W	R	+	1	2	EMR1	6864826	0.000000	0.05858	0.020000	0.16555	0.003000	0.03518	0.002000	0.13061	2.301000	0.77427	0.561000	0.74099	CGG	EMR1	-	NULL	ENSG00000174837		0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	113	0.00	0	C			6913826	6913826	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	missense	101	14.29	17	SNP	0.001	T
ENAM	10117	genome.wustl.edu	37	4	71500261	71500261	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:71500261C>A	ENST00000396073.3	+	6	728	c.447C>A	c.(445-447)ccC>ccA	p.P149P		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	149					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACCTCAGCCCGAAGAGGAAG	0.498																																						dbGAP											0													93.0	96.0	95.0					4																	71500261		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.447C>A	4.37:g.71500261C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	Silent	SNP	NULL	p.P149	ENST00000396073.3	37	c.447	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.498	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	453	0.00	0	C	NM_031889		71500261	71500261	+1	no_errors	ENST00000396073	ensembl	human	known	69_37n	silent	210	29.43	88	SNP	0.146	A
ENAM	10117	genome.wustl.edu	37	4	71503463	71503463	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:71503463G>A	ENST00000396073.3	+	8	815				ENAM_ENST00000472903.1_3'UTR	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin						amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGGCGGCATCGAACGTGGTTT	0.443																																						dbGAP											0													118.0	114.0	115.0					4																	71503463		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.535-44G>A	4.37:g.71503463G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RI5|Q9H3D1	RNA	SNP	-	NULL	ENST00000396073.3	37	NULL	CCDS3544.2	4																																																																																			ENAM	-	-	ENSG00000132464		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	285	0.00	0	G	NM_031889		71503463	71503463	+1	no_errors	ENST00000472903	ensembl	human	known	69_37n	rna	214	11.20	27	SNP	0.001	A
ENOPH1	58478	genome.wustl.edu	37	4	83378120	83378120	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:83378120G>T	ENST00000273920.3	+	5	843	c.575G>T	c.(574-576)aGt>aTt	p.S192I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.S104I	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GAGAGTGAAAGTTACCGAAAG	0.388																																						dbGAP											0													174.0	164.0	167.0					4																	83378120		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.575G>T	4.37:g.83378120G>T	ENSP00000273920:p.Ser192Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_Enolase_ppase,tigrfam_HAD-SF_hydro_IA_v1	p.S192I	ENST00000273920.3	37	c.575	CCDS3594.1	4	.	.	.	.	.	.	.	.	.	.	g	29.5	5.014578	0.93404	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.05258	3.47;3.47	5.37	5.37	0.77165	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58901	-0.7554	10	0.87932	D	0	-12.9223	19.4755	0.94985	0.0:0.0:1.0:0.0	.	192	Q9UHY7	ENOPH_HUMAN	I	192;192;104	ENSP00000273920:S192I;ENSP00000422005:S104I	ENSP00000273920:S192I	S	+	2	0	ENOPH1	83597144	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.596000	0.98267	2.672000	0.90937	0.585000	0.79938	AGT	ENOPH1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_Enolase_ppase,tigrfam_HAD-SF_hydro_IA_v1	ENSG00000145293		0.388	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOPH1	HGNC	protein_coding	OTTHUMT00000252638.2	253	0.00	0	G	NM_021204		83378120	83378120	+1	no_errors	ENST00000273920	ensembl	human	known	69_37n	missense	218	15.83	41	SNP	1.000	T
ENPP2	5168	genome.wustl.edu	37	8	120581516	120581516	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120581516T>G	ENST00000075322.6	-	21	2070	c.2012A>C	c.(2011-2013)aAa>aCa	p.K671T	ENPP2_ENST00000427067.2_Missense_Mutation_p.K692T|ENPP2_ENST00000522167.1_Missense_Mutation_p.K306T|ENPP2_ENST00000522826.1_Missense_Mutation_p.K696T|ENPP2_ENST00000259486.6_Missense_Mutation_p.K723T	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	671					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTATCATTTTTGTAGGCCAA	0.473																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													176.0	165.0	168.0					8																	120581516		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2012A>C	8.37:g.120581516T>G	ENSP00000075322:p.Lys671Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.K723T	ENST00000075322.6	37	c.2168	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744613	0.49151	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.37	4.22	0.49857	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.191045	0.53938	D	0.000054	T	0.65217	0.2670	L	0.58101	1.795	0.40606	D	0.981629	B;B;B;B;B	0.31193	0.17;0.053;0.203;0.141;0.312	B;B;B;B;B	0.39971	0.217;0.278;0.315;0.22;0.165	T	0.62001	-0.6946	10	0.36615	T	0.2	.	8.9373	0.35708	0.0:0.1628:0.0:0.8372	.	209;696;671;723;306	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	T	723;692;306;696;671	ENSP00000259486:K723T;ENSP00000403315:K692T;ENSP00000429476:K306T;ENSP00000428291:K696T;ENSP00000075322:K671T	ENSP00000075322:K671T	K	-	2	0	ENPP2	120650697	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.587000	0.36622	0.888000	0.36160	0.533000	0.62120	AAA	ENPP2	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000136960		0.473	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	326	0.00	0	T			120581516	120581516	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	246	15.17	44	SNP	1.000	G
ENPP2	5168	genome.wustl.edu	37	8	120602772	120602772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120602772G>A	ENST00000075322.6	-	13	1238	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	ENPP2_ENST00000427067.2_Nonsense_Mutation_p.R390*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.R33*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.R394*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.R446*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	394					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTGGATCGAATTCTTCCT	0.333																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													93.0	91.0	91.0					8																	120602772		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1180C>T	8.37:g.120602772G>A	ENSP00000075322:p.Arg394*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.R446*	ENST00000075322.6	37	c.1336	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.850616	0.97023	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.66	5.66	0.87406	.	0.131210	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5759	0.68246	0.0:0.0:0.8541:0.1459	.	.	.	.	X	446;390;33;394;394	.	ENSP00000075322:R394X	R	-	1	2	ENPP2	120671953	1.000000	0.71417	0.997000	0.53966	0.771000	0.43674	7.386000	0.79775	2.673000	0.90976	0.650000	0.86243	CGA	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.333	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	223	0.00	0	G			120602772	120602772	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	nonsense	132	14.84	23	SNP	1.000	A
ENPP2	5168	genome.wustl.edu	37	8	120608142	120608142	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120608142C>A	ENST00000075322.6	-	12	1031				ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522167.1_5'Flank|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000259486.6_Missense_Mutation_p.R358I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTCTTCTTCTTTTCTTTGG	0.443																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													131.0	131.0	131.0					8																	120608142		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.973-2042G>T	8.37:g.120608142C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.R358I	ENST00000075322.6	37	c.1073	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108013	0.77096	.	.	ENSG00000136960	ENST00000259486	T	0.72051	-0.62	5.83	5.83	0.93111	.	0.000000	0.40908	D	0.000984	T	0.64789	0.2630	.	.	.	0.80722	D	1	P	0.40794	0.729	P	0.45232	0.474	T	0.58847	-0.7564	9	0.15499	T	0.54	.	13.5483	0.61717	0.0:0.9265:0.0:0.0735	.	358	Q13822-2	.	I	358	ENSP00000259486:R358I	ENSP00000259486:R358I	R	-	2	0	ENPP2	120677323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.770000	0.62309	2.770000	0.95276	0.655000	0.94253	AGA	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.443	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	250	0.00	0	C			120608142	120608142	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	150	29.91	64	SNP	1.000	A
ENPP2	5168	genome.wustl.edu	37	8	120650706	120650706	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120650706C>T	ENST00000075322.6	-	2	153	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	ENPP2_ENST00000427067.2_Missense_Mutation_p.R28Q|ENPP2_ENST00000522826.1_Missense_Mutation_p.R32Q|ENPP2_ENST00000259486.6_Missense_Mutation_p.R32Q	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	32					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCTCTTAATTCGATGTGCAGT	0.378																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													142.0	143.0	143.0					8																	120650706		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.95G>A	8.37:g.120650706C>T	ENSP00000075322:p.Arg32Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.R32Q	ENST00000075322.6	37	c.95	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195426	0.78902	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;D	0.81821	-0.98;-0.87;-0.88;-0.9;-1.54	6.17	5.3	0.74995	.	0.274240	0.35320	N	0.003285	T	0.82185	0.4982	N	0.19112	0.55	0.52501	D	0.999955	D;D;D	0.89917	1.0;0.999;1.0	P;P;D	0.70227	0.876;0.766;0.968	D	0.85123	0.0970	10	0.87932	D	0	.	14.4267	0.67220	0.0:0.9304:0.0:0.0696	.	32;32;32	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	Q	32;28;32;32;32	ENSP00000259486:R32Q;ENSP00000403315:R28Q;ENSP00000428291:R32Q;ENSP00000075322:R32Q;ENSP00000428304:R32Q	ENSP00000075322:R32Q	R	-	2	0	ENPP2	120719887	1.000000	0.71417	0.999000	0.59377	0.414000	0.31173	5.167000	0.64972	1.630000	0.50440	0.655000	0.94253	CGA	ENPP2	-	NULL	ENSG00000136960		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	262	0.00	0	C			120650706	120650706	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	142	25.26	48	SNP	1.000	T
ENPP3	5169	genome.wustl.edu	37	6	131974027	131974027	+	Missense_Mutation	SNP	G	G	A	rs369646709		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:131974027G>A	ENST00000414305.1	+	6	788	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	ENPP3_ENST00000427148.2_Missense_Mutation_p.E120K|ENPP3_ENST00000470930.1_Intron|ENPP3_ENST00000357639.3_Missense_Mutation_p.E154K|ENPP3_ENST00000358229.5_Missense_Mutation_p.E154K|ENPP3_ENST00000543135.1_Missense_Mutation_p.E120K			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	154	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCAGTGCCCAGAAGGGTGAGC	0.443																																						dbGAP											0													82.0	83.0	83.0					6																	131974027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.460G>A	6.37:g.131974027G>A	ENSP00000406261:p.Glu154Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.E154K	ENST00000414305.1	37	c.460	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	8.997	0.979266	0.18812	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.22	0.964	0.19655	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.016460	0.07860	N	0.966111	T	0.39172	0.1068	L	0.40543	1.245	0.25632	N	0.986294	B	0.12630	0.006	B	0.12156	0.007	T	0.16928	-1.0386	10	0.33940	T	0.23	-1.0587	2.0907	0.03656	0.1556:0.2805:0.4206:0.1433	.	154	O14638	ENPP3_HUMAN	K	154;154;120;120;154	ENSP00000406261:E154K;ENSP00000350265:E154K;ENSP00000440810:E120K;ENSP00000399269:E120K;ENSP00000350964:E154K	ENSP00000350265:E154K	E	+	1	0	ENPP3	132015720	0.989000	0.36119	0.988000	0.46212	0.398000	0.30690	0.494000	0.22467	0.158000	0.19367	-0.312000	0.09012	GAA	ENPP3	-	superfamily_Alkaline_phosphatase_core	ENSG00000154269		0.443	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	306	0.00	0	G			131974027	131974027	+1	no_errors	ENST00000357639	ensembl	human	known	69_37n	missense	207	12.29	29	SNP	0.946	A
ENPP3	5169	genome.wustl.edu	37	6	131995443	131995443	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:131995443G>A	ENST00000414305.1	+	9	1090				ENPP3_ENST00000427148.2_Missense_Mutation_p.A228T|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000543135.1_Intron			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3						immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCTACACGTCGCAACTGAAGT	0.438																																						dbGAP											0													52.0	49.0	50.0					6																	131995443		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.762+22G>A	6.37:g.131995443G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom	p.A228T	ENST00000414305.1	37	c.682	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	9.583	1.124089	0.20959	.	.	ENSG00000154269	ENST00000427148	T	0.78924	-1.22	4.94	-1.92	0.07618	.	.	.	.	.	T	0.58736	0.2143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.60151	-0.7319	6	0.87932	D	0	.	6.4164	0.21719	0.4558:0.1275:0.4167:0.0	.	.	.	.	T	228	ENSP00000399269:A228T	ENSP00000399269:A228T	A	+	1	0	ENPP3	132037136	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.412000	0.07132	-0.531000	0.06340	-3.243000	0.00051	GCA	ENPP3	-	superfamily_Alkaline_phosphatase_core	ENSG00000154269		0.438	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	88	0.00	0	G			131995443	131995443	+1	no_errors	ENST00000427148	ensembl	human	known	69_37n	missense	75	13.79	12	SNP	0.000	A
ENPP4	22875	genome.wustl.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46107841C>T	ENST00000321037.4	+	2	751	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393																																						dbGAP											0													113.0	112.0	112.0					6																	46107841		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.521C>T	6.37:g.46107841C>T	ENSP00000318066:p.Ser174Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G1|Q7L2N1	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S174L	ENST00000321037.4	37	c.521	CCDS34468.1	6	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709846	0.48517	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72835	-0.69	5.71	5.71	0.89125	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.992833	0.08206	N	0.981433	T	0.69628	0.3132	M	0.70842	2.15	0.09310	N	1	D	0.53151	0.958	P	0.45639	0.488	T	0.67658	-0.5614	10	0.54805	T	0.06	-14.1878	19.8579	0.96771	0.0:1.0:0.0:0.0	.	174	Q9Y6X5	ENPP4_HUMAN	L	174	ENSP00000318066:S174L	ENSP00000318066:S174L	S	+	2	0	ENPP4	46215800	0.191000	0.23288	0.925000	0.36789	0.833000	0.47200	1.916000	0.39986	2.687000	0.91594	0.655000	0.94253	TCG	ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2	152	0.00	0	C			46107841	46107841	+1	no_errors	ENST00000321037	ensembl	human	known	69_37n	missense	142	11.73	19	SNP	0.020	T
ENPP3	5169	genome.wustl.edu	37	6	132047228	132047228	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:132047228G>A	ENST00000414305.1	+	21	2169	c.1841G>A	c.(1840-1842)aGg>aAg	p.R614K	ENPP3_ENST00000357639.3_Missense_Mutation_p.R614K|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614K			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	614	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGGAGGCCTAGGGTACTGCAG	0.388																																						dbGAP											0													142.0	134.0	137.0					6																	132047228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1841G>A	6.37:g.132047228G>A	ENSP00000406261:p.Arg614Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.R614K	ENST00000414305.1	37	c.1841	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396359	0.25205	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.73681	-0.42;-0.42;-0.77	5.4	3.52	0.40303	.	0.478199	0.21197	N	0.078530	T	0.48277	0.1491	L	0.59912	1.85	0.53688	D	0.999973	B	0.12013	0.005	B	0.10450	0.005	T	0.47156	-0.9139	10	0.19590	T	0.45	-10.5208	5.7624	0.18207	0.2297:0.0:0.6254:0.145	.	614	O14638	ENPP3_HUMAN	K	614	ENSP00000406261:R614K;ENSP00000350265:R614K;ENSP00000350964:R614K	ENSP00000350265:R614K	R	+	2	0	ENPP3	132088921	0.009000	0.17119	0.997000	0.53966	0.740000	0.42216	0.492000	0.22435	1.413000	0.46997	0.655000	0.94253	AGG	ENPP3	-	NULL	ENSG00000154269		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	295	0.00	0	G			132047228	132047228	+1	no_errors	ENST00000357639	ensembl	human	known	69_37n	missense	166	29.36	69	SNP	0.820	A
ENPP6	133121	genome.wustl.edu	37	4	185033885	185033885	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:185033885C>A	ENST00000296741.2	-	6	1074	c.933G>T	c.(931-933)aaG>aaT	p.K311N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	311					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ACTTTCCTTTCTTGTAATAGA	0.373																																						dbGAP											0													138.0	134.0	135.0					4																	185033885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.933G>T	4.37:g.185033885C>A	ENSP00000296741:p.Lys311Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5Q1|Q96M57	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.K311N	ENST00000296741.2	37	c.933	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490038	0.64074	.	.	ENSG00000164303	ENST00000296741	T	0.72394	-0.65	5.88	3.26	0.37387	Alkaline-phosphatase-like, core domain (1);	0.087216	0.85682	D	0.000000	T	0.75620	0.3874	L	0.46157	1.445	0.53005	D	0.999967	D	0.60575	0.988	D	0.68192	0.956	T	0.72484	-0.4279	10	0.48119	T	0.1	-28.8871	8.964	0.35865	0.0:0.6584:0.0:0.3416	.	311	Q6UWR7	ENPP6_HUMAN	N	311	ENSP00000296741:K311N	ENSP00000296741:K311N	K	-	3	2	ENPP6	185270879	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	2.447000	0.44917	0.417000	0.25871	0.655000	0.94253	AAG	ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000164303		0.373	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	216	0.00	0	C	NM_153343		185033885	185033885	-1	no_errors	ENST00000296741	ensembl	human	known	69_37n	missense	136	12.82	20	SNP	1.000	A
C1ORF220	400798	genome.wustl.edu	37	1	178514897	178514897	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:178514897C>T	ENST00000367636.4	+	2	621	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C	C1orf220_ENST00000319387.2_3'UTR|C1orf220_ENST00000521244.1_3'UTR																							TCAGTTTGTTCGTCAAAGGGC	0.483																																						dbGAP											0													94.0	83.0	87.0					1																	178514897		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000367636.4:c.283C>T	1.37:g.178514897C>T	ENSP00000356608:p.Arg95Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R95C	ENST00000367636.4	37	c.283		1	.	.	.	.	.	.	.	.	.	.	C	3.589	-0.084094	0.07097	.	.	ENSG00000184909	ENST00000367636	T	0.26067	1.76	2.32	-2.01	0.07410	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.22276	0.067	B	0.09377	0.004	T	0.30534	-0.9975	7	.	.	.	.	3.3031	0.06990	0.0:0.3421:0.2175:0.4404	.	95	Q5T0J3	CA220_HUMAN	C	95	ENSP00000356608:R95C	.	R	+	1	0	AL513013.1	176781520	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.356000	0.07661	-0.546000	0.06216	-0.379000	0.06801	CGT	AL513013.1	-	NULL	ENSG00000184909		0.483	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000184909	Clone_based_ensembl_gene	protein_coding		112	0.00	0	C			178514897	178514897	+1	no_errors	ENST00000367636	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	0.000	T
GFOD1	54438	genome.wustl.edu	37	6	13470205	13470205	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:13470205C>A	ENST00000379287.3	-	1	918				GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000603223.1_3'UTR|AL583828.1_ENST00000558378.1_Missense_Mutation_p.R103I	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGATGAGTTCTCTCAGAGCA	0.408																																						dbGAP											0													107.0	87.0	94.0					6																	13470205		2172	4247	6419	-	-	-	SO:0001627	intron_variant	0			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16664G>T	6.37:g.13470205C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	NULL	p.R103I	ENST00000379287.3	37	c.308	CCDS4524.1	6	.	.	.	.	.	.	.	.	.	.	C	6.753	0.507842	0.12883	.	.	ENSG00000187461	ENST00000379278	.	.	.	3.28	-2.5	0.06384	.	.	.	.	.	T	0.11067	0.0270	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.34477	-0.9827	7	0.87932	D	0	.	4.7151	0.12891	0.1499:0.3694:0.0:0.4806	.	103	Q9NXC2-3	.	I	103	.	ENSP00000368580:R103I	R	-	2	0	AL583828.1	13578184	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.376000	0.07465	-0.869000	0.04052	-2.925000	0.00089	AGA	AL583828.1	-	NULL	ENSG00000187461		0.408	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000187461	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000039902.1	125	0.00	0	C	NM_018988		13470205	13470205	-1	no_errors	ENST00000558378	ensembl	human	known	69_37n	missense	80	18.00	18	SNP	0.000	A
TRIM59	286827	genome.wustl.edu	37	3	160156133	160156133	+	Missense_Mutation	SNP	C	C	T	rs555593021		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:160156133C>T	ENST00000309784.4	-	3	1024	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R280Q|TRIM59_ENST00000543469.1_Missense_Mutation_p.R280Q	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	280					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGCTTACTCGAGGATAAAT	0.358													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													91.0	98.0	96.0					3																	160156133		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.839G>A	3.37:g.160156133C>T	ENSP00000311219:p.Arg280Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G9|D3DNL9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R280Q	ENST00000309784.4	37	c.839	CCDS3190.1	3	.	.	.	.	.	.	.	.	.	.	c	14.24	2.476044	0.44044	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.25085	2.03;1.82	5.77	2.94	0.34122	.	0.066986	0.64402	N	0.000010	T	0.44138	0.1279	M	0.62723	1.935	0.37370	D	0.911587	D	0.89917	1.0	D	0.87578	0.998	T	0.41161	-0.9524	9	.	.	.	-1.4476	10.3044	0.43672	0.1063:0.766:0.0:0.1277	.	280	Q8IWR1	TRI59_HUMAN	Q	280	ENSP00000444313:R280Q;ENSP00000311219:R280Q	.	R	-	2	0	TRIM59	161638827	0.035000	0.19736	0.996000	0.52242	0.171000	0.22731	0.255000	0.18333	0.389000	0.25086	-0.925000	0.02716	CGA	RP11-432B6.3	-	NULL	ENSG00000248710		0.358	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Clone_based_vega_gene	protein_coding	OTTHUMT00000352963.1	145	0.00	0	C	NM_173084		160156133	160156133	-1	no_errors	ENST00000483754	ensembl	human	known	69_37n	missense	81	35.71	45	SNP	0.958	T
ENTHD1	150350	genome.wustl.edu	37	22	40139873	40139873	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:40139873C>A	ENST00000325157.6	-	7	1885	c.1635G>T	c.(1633-1635)aaG>aaT	p.K545N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	545								p.K545N(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TAATGGAATTCTTTGCTTCAG	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											94.0	85.0	88.0					22																	40139873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1635G>T	22.37:g.40139873C>A	ENSP00000317431:p.Lys545Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.K545N	ENST00000325157.6	37	c.1635	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.244290	0.00271	.	.	ENSG00000176177	ENST00000325157	T	0.31247	1.5	5.75	-1.7	0.08159	.	1.453130	0.03856	N	0.273218	T	0.10766	0.0263	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32613	-0.9900	10	0.02654	T	1	-0.9843	8.9685	0.35892	0.1454:0.5048:0.3498:0.0	.	545	Q8IYW4	ENTD1_HUMAN	N	545	ENSP00000317431:K545N	ENSP00000317431:K545N	K	-	3	2	ENTHD1	38469819	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.582000	0.02117	-0.413000	0.07507	-0.171000	0.13296	AAG	ENTHD1	-	NULL	ENSG00000176177		0.433	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	179	0.00	0	C	NM_152512		40139873	40139873	-1	no_errors	ENST00000325157	ensembl	human	known	69_37n	missense	147	30.66	65	SNP	0.000	A
ENTPD6	955	genome.wustl.edu	37	20	25196318	25196318	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:25196318C>T	ENST00000376652.4	+	7	843	c.680C>T	c.(679-681)tCg>tTg	p.S227L	ENTPD6_ENST00000360031.2_Missense_Mutation_p.S226L|ENTPD6_ENST00000433259.2_Missense_Mutation_p.S227L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S210L|Y_RNA_ENST00000365544.1_RNA			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	227					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCAGGCGTTTCGGCGTGGATC	0.507																																						dbGAP											0													127.0	115.0	119.0					20																	25196318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.680C>T	20.37:g.25196318C>T	ENSP00000365840:p.Ser227Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S227L	ENST00000376652.4	37	c.680	CCDS13170.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.52|13.52	2.261116|2.261116	0.39995|0.39995	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000427553;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000418890;ENST00000425813	.|T;T;T;T;T;T;T;T	.|0.10668	.|2.85;2.85;2.85;2.85;2.85;2.85;2.85;2.85	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.193477	.|0.46145	.|D	.|0.000313	T|T	0.17831|0.17831	0.0428|0.0428	L|L	0.31664|0.31664	0.95|0.95	0.29822|0.29822	N|N	0.830784|0.830784	.|P;P;B;B;P;P;P;D;D	.|0.89917	.|0.905;0.542;0.149;0.149;0.542;0.486;0.542;0.999;1.0	.|P;B;B;B;B;B;B;D;D	.|0.71870	.|0.557;0.187;0.091;0.091;0.187;0.139;0.155;0.937;0.975	T|T	0.03630|0.03630	-1.1018|-1.1018	5|10	.|0.21014	.|T	.|0.42	-12.1183|-12.1183	11.1118|11.1118	0.48237|0.48237	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	.|9;209;227;227;227;210;226;226;227	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN	W|L	148;85;120|210;226;147;123;227;209;161;227;162;179	.|ENSP00000347084:S210L;ENSP00000353131:S226L;ENSP00000365840:S227L;ENSP00000408098:S209L;ENSP00000395064:S161L;ENSP00000401895:S227L;ENSP00000390511:S162L;ENSP00000390646:S179L	.|ENSP00000347084:S210L	R|S	+|+	1|2	2|0	ENTPD6|ENTPD6	25144318|25144318	0.909000|0.909000	0.30893|0.30893	0.086000|0.086000	0.20670|0.20670	0.258000|0.258000	0.26162|0.26162	2.871000|2.871000	0.48459|0.48459	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CGG|TCG	ENTPD6	-	pfam_GDA1_CD39_NTPase	ENSG00000197586		0.507	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	83	0.00	0	C			25196318	25196318	+1	no_errors	ENST00000376652	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	0.328	T
EPB41	2035	genome.wustl.edu	37	1	29362384	29362384	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:29362384G>A	ENST00000343067.4	+	10	1539	c.1412G>A	c.(1411-1413)cGa>cAa	p.R471Q	EPB41_ENST00000398863.2_Missense_Mutation_p.R471Q|EPB41_ENST00000356093.2_Missense_Mutation_p.R471Q|EPB41_ENST00000347529.3_Missense_Mutation_p.R436Q|EPB41_ENST00000373797.1_Missense_Mutation_p.R471Q|EPB41_ENST00000349460.4_Missense_Mutation_p.R262Q|EPB41_ENST00000373798.1_Missense_Mutation_p.R471Q|EPB41_ENST00000373800.3_Missense_Mutation_p.R262Q	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	471	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCCAGTTACCGAGCAGCTAAG	0.338																																						dbGAP											0													125.0	120.0	122.0					1																	29362384		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1412G>A	1.37:g.29362384G>A	ENSP00000345259:p.Arg471Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.R471Q	ENST00000343067.4	37	c.1412	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875739	0.91664	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.082006	0.56097	D	0.000037	D	0.92971	0.7763	M	0.84219	2.685	0.51482	D	0.999927	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.991;0.993;1.0;0.982;0.991;0.985;0.967;0.999;0.982	D;P;P;D;B;P;P;P;D;B	0.71656	0.974;0.752;0.718;0.959;0.433;0.596;0.569;0.578;0.971;0.35	D	0.93449	0.6800	10	0.87932	D	0	.	11.9521	0.52961	0.079:0.0:0.921:0.0	.	365;471;471;471;471;471;488;436;262;262	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	Q	488;471;471;471;365;471;262;262;436;471;471	ENSP00000345259:R471Q;ENSP00000348397:R471Q;ENSP00000381839:R471Q;ENSP00000317597:R262Q;ENSP00000362906:R262Q;ENSP00000290100:R436Q;ENSP00000362904:R471Q;ENSP00000362903:R471Q	ENSP00000345259:R471Q	R	+	2	0	EPB41	29234971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.572000	0.60886	2.617000	0.88574	0.655000	0.94253	CGA	EPB41	-	pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000159023		0.338	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	339	0.00	0	G	NM_203342		29362384	29362384	+1	no_errors	ENST00000343067	ensembl	human	known	69_37n	missense	218	12.10	30	SNP	1.000	A
EPB41L5	57669	genome.wustl.edu	37	2	120848067	120848067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:120848067C>T	ENST00000263713.5	+	12	1232	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.R340*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.R340*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.R340*|EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.R340*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	340					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGGATTTATTCGACTAGGATC	0.378																																						dbGAP											0													135.0	127.0	130.0					2																	120848067		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1018C>T	2.37:g.120848067C>T	ENSP00000263713:p.Arg340*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5S1|Q8IZ12|Q9H975	Nonsense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.R340*	ENST00000263713.5	37	c.1018	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.292976	0.98747	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	.	.	.	5.41	4.54	0.55810	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3516	0.66705	0.0:0.9285:0.0:0.0715	.	.	.	.	X	340	.	ENSP00000263713:R340X	R	+	1	2	EPB41L5	120564537	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.796000	0.62496	1.431000	0.47355	-0.225000	0.12378	CGA	EPB41L5	-	pfam_FERM-adjacent	ENSG00000115109		0.378	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	269	0.00	0	C	NM_020909		120848067	120848067	+1	no_errors	ENST00000263713	ensembl	human	known	69_37n	nonsense	132	25.28	45	SNP	1.000	T
EPG5	57724	genome.wustl.edu	37	18	43432480	43432480	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:43432480G>A	ENST00000282041.5	-	44	7726	c.7692C>T	c.(7690-7692)ctC>ctT	p.L2564L		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2564					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GACAGTTAACGAGAAGAGCCA	0.398																																						dbGAP											0													152.0	140.0	144.0					18																	43432480		1873	4109	5982	-	-	-	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7692C>T	18.37:g.43432480G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.S490L	ENST00000282041.5	37	c.1469	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	391	0.00	0	G	NM_020964		43432480	43432480	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000590854	ensembl	human	known	69_37n	missense	238	24.13	76	SNP	0.019	A
EPG5	57724	genome.wustl.edu	37	18	43532480	43532480	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:43532480C>T	ENST00000282041.5	-	3	1172	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	380					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAATGAAGGGCCAGGGTCTGG	0.438																																						dbGAP											0													85.0	87.0	87.0					18																	43532480		1920	4129	6049	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1138G>A	18.37:g.43532480C>T	ENSP00000282041:p.Ala380Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.A380T	ENST00000282041.5	37	c.1138	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115657	0.37339	.	.	ENSG00000152223	ENST00000282041	T	0.80909	-1.43	5.38	3.45	0.39498	.	0.569642	0.19634	N	0.109612	T	0.62380	0.2423	N	0.12961	0.28	0.37617	D	0.921143	B;B	0.18166	0.026;0.026	B;B	0.22601	0.04;0.04	T	0.56541	-0.7962	10	0.15066	T	0.55	-7.9416	8.6812	0.34209	0.2545:0.6713:0.0:0.0742	.	380;380	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	T	380	ENSP00000282041:A380T	ENSP00000282041:A380T	A	-	1	0	EPG5	41786478	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.522000	0.53480	1.384000	0.46424	0.563000	0.77884	GCC	EPG5	-	NULL	ENSG00000152223		0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	165	0.00	0	C	NM_020964		43532480	43532480	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	127	14.77	22	SNP	1.000	T
EPG5	57724	genome.wustl.edu	37	18	43534729	43534729	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:43534729C>A	ENST00000282041.5	-	2	673	c.639G>T	c.(637-639)aaG>aaT	p.K213N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	213					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATACAGTTTCTTCACTCTAG	0.502																																						dbGAP											0													45.0	47.0	46.0					18																	43534729		2106	4243	6349	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.639G>T	18.37:g.43534729C>A	ENSP00000282041:p.Lys213Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.K213N	ENST00000282041.5	37	c.639	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638181	0.47153	.	.	ENSG00000152223	ENST00000282041	T	0.12569	2.67	5.64	3.53	0.40419	.	1.510630	0.03245	N	0.180992	T	0.12860	0.0312	N	0.24115	0.695	0.28848	N	0.896203	D;P	0.53462	0.96;0.904	P;B	0.46076	0.503;0.407	T	0.16247	-1.0409	10	0.23891	T	0.37	-8.0131	5.8313	0.18582	0.0:0.1835:0.0:0.8165	.	213;213	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	N	213	ENSP00000282041:K213N	ENSP00000282041:K213N	K	-	3	2	EPG5	41788727	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	1.142000	0.31540	0.575000	0.29434	0.563000	0.77884	AAG	EPG5	-	NULL	ENSG00000152223		0.502	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	34	0.00	0	C	NM_020964		43534729	43534729	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
EPHA1	2041	genome.wustl.edu	37	7	143091418	143091418	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:143091418G>T	ENST00000275815.3	-	15	2457	c.2371C>A	c.(2371-2373)Cgt>Agt	p.R791S	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	791	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTGTCCAACGGATAGGGATC	0.512																																						dbGAP											0													106.0	92.0	97.0					7																	143091418		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2371C>A	7.37:g.143091418G>T	ENSP00000275815:p.Arg791Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R791S	ENST00000275815.3	37	c.2371	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932280	0.92389	.	.	ENSG00000146904	ENST00000275815	D	0.83075	-1.68	4.67	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000014	D	0.90283	0.6961	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91312	0.5075	10	0.87932	D	0	.	18.1374	0.89624	0.0:0.0:1.0:0.0	.	791	P21709	EPHA1_HUMAN	S	791	ENSP00000275815:R791S	ENSP00000275815:R791S	R	-	1	0	EPHA1	142801540	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	7.643000	0.83403	2.576000	0.86940	0.655000	0.94253	CGT	EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000146904		0.512	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	194	0.00	0	G			143091418	143091418	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	missense	100	26.47	36	SNP	1.000	T
EPHA3	2042	genome.wustl.edu	37	3	89480310	89480310	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:89480310C>T	ENST00000336596.2	+	13	2372	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V	EPHA3_ENST00000494014.1_Missense_Mutation_p.A716V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	716	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACACGATGCCCAGTTTACT	0.403										TSP Lung(6;0.00050)																												dbGAP											0													109.0	95.0	100.0					3																	89480310		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2147C>T	3.37:g.89480310C>T	ENSP00000337451:p.Ala716Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A716V	ENST00000336596.2	37	c.2147	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437161	0.62955	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83075	-1.68;-1.68	5.33	5.33	0.75918	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83083	0.5177	N	0.11341	0.13	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.82635	-0.0360	9	.	.	.	.	19.3726	0.94495	0.0:1.0:0.0:0.0	.	716	P29320	EPHA3_HUMAN	V	716	ENSP00000337451:A716V;ENSP00000419190:A716V	.	A	+	2	0	EPHA3	89563000	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	2.582000	0.46085	2.648000	0.89879	0.585000	0.79938	GCC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000044524		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	168	0.00	0	C	NM_005233		89480310	89480310	+1	no_errors	ENST00000336596	ensembl	human	known	69_37n	missense	128	15.69	24	SNP	1.000	T
EPHA4	2043	genome.wustl.edu	37	2	222321462	222321462	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:222321462G>A	ENST00000281821.2	-	7	1515	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	EPHA4_ENST00000409854.1_Missense_Mutation_p.R492W|EPHA4_ENST00000409938.1_Missense_Mutation_p.R492W|EPHA4_ENST00000392071.4_Missense_Mutation_p.R441W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	492	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)	p.R492W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCAGCTGTCCGAACTATACGA	0.468																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											126.0	111.0	116.0					2																	222321462		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.1474C>T	2.37:g.222321462G>A	ENSP00000281821:p.Arg492Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R492W	ENST00000281821.2	37	c.1474	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766604	0.69878	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	5.91	0.324	0.15898	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049258	0.85682	D	0.000000	T	0.76765	0.4033	M	0.89414	3.03	0.38114	D	0.937666	D	0.61697	0.99	D	0.64506	0.926	D	0.85008	0.0904	10	0.87932	D	0	.	16.2524	0.82492	0.0:0.0:0.3176:0.6823	.	492	P54764	EPHA4_HUMAN	W	492;492;492;441	ENSP00000281821:R492W;ENSP00000386276:R492W;ENSP00000386829:R492W;ENSP00000375923:R441W	ENSP00000281821:R492W	R	-	1	2	EPHA4	222029706	1.000000	0.71417	0.836000	0.33094	0.992000	0.81027	3.592000	0.53993	0.354000	0.24105	0.655000	0.94253	CGG	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116106		0.468	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	243	0.41	1	G			222321462	222321462	-1	no_errors	ENST00000281821	ensembl	human	known	69_37n	missense	181	12.56	26	SNP	0.695	A
EPHA6	285220	genome.wustl.edu	37	3	97167515	97167515	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97167515G>T	ENST00000389672.5	+	7	1873	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	518						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCCGAGTGAGAACTGCGACA	0.423																																						dbGAP											0													106.0	104.0	105.0					3																	97167515		1905	4135	6040	-	-	-	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1835G>T	3.37:g.97167515G>T	ENSP00000374323:p.Arg612Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R612I	ENST00000389672.5	37	c.1835	CCDS46876.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132895	0.77662	.	.	ENSG00000080224	ENST00000389672	T	0.57273	0.41	5.41	5.41	0.78517	.	.	.	.	.	T	0.75759	0.3893	M	0.86268	2.805	0.80722	D	1	.	.	.	.	.	.	T	0.79801	-0.1650	7	0.72032	D	0.01	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	.	.	.	I	612	ENSP00000374323:R612I	ENSP00000374323:R612I	R	+	2	0	EPHA6	98650205	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	9.476000	0.97823	2.544000	0.85801	0.655000	0.94253	AGA	EPHA6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080224		0.423	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3	158	0.00	0	G	NM_001080448		97167515	97167515	+1	no_errors	ENST00000389672	ensembl	human	known	69_37n	missense	77	34.19	40	SNP	1.000	T
EPHA6	285220	genome.wustl.edu	37	3	97202874	97202874	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97202874G>T	ENST00000514100.1	+	7	589	c.347G>T	c.(346-348)aGa>aTa	p.R116I	EPHA6_ENST00000389672.5_Missense_Mutation_p.R724I|EPHA6_ENST00000442602.2_Missense_Mutation_p.R90I|EPHA6_ENST00000502694.1_Missense_Mutation_p.R116I	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	630	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GATCCCTCAAGAATTCGTATT	0.383																																						dbGAP											0													96.0	97.0	97.0					3																	97202874		1860	4108	5968	-	-	-	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.347G>T	3.37:g.97202874G>T	ENSP00000421711:p.Arg116Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R724I	ENST00000514100.1	37	c.2171		3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230407	0.58777	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;D	0.89875	-0.08;0.88;0.88;-2.58	5.42	4.54	0.55810	Protein kinase-like domain (1);	.	.	.	.	D	0.92397	0.7587	L	0.54323	1.7	0.80722	D	1	D;P;D;D	0.76494	0.991;0.893;0.999;0.995	P;B;D;P	0.83275	0.606;0.383;0.996;0.798	D	0.90884	0.4756	9	0.29301	T	0.29	.	15.6775	0.77338	0.0:0.0:0.862:0.138	.	90;629;116;116	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	I	724;116;116;90	ENSP00000374323:R724I;ENSP00000421711:R116I;ENSP00000423950:R116I;ENSP00000403100:R90I	ENSP00000374323:R724I	R	+	2	0	EPHA6	98685564	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.370000	0.73114	1.291000	0.44653	0.556000	0.70494	AGA	EPHA6	-	superfamily_Kinase-like_dom	ENSG00000080224		0.383	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	262	0.00	0	G	NM_001080448		97202874	97202874	+1	no_errors	ENST00000389672	ensembl	human	known	69_37n	missense	118	33.71	60	SNP	1.000	T
EPHA6	285220	genome.wustl.edu	37	3	97251321	97251321	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97251321G>T	ENST00000514100.1	+	8	738	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	EPHA6_ENST00000389672.5_Nonsense_Mutation_p.E774*|EPHA6_ENST00000442602.2_Nonsense_Mutation_p.E140*|EPHA6_ENST00000502694.1_Nonsense_Mutation_p.E166*	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	680	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.E680K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTTTCTAAGAGAAGCTAGTAT	0.428																																						dbGAP											1	Substitution - Missense(1)	skin(1)											86.0	84.0	85.0					3																	97251321		1879	4123	6002	-	-	-	SO:0001587	stop_gained	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.496G>T	3.37:g.97251321G>T	ENSP00000421711:p.Glu166*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E774*	ENST00000514100.1	37	c.2320		3	.	.	.	.	.	.	.	.	.	.	G	38	7.176579	0.98114	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	X	774;166;166;140	.	ENSP00000374323:E774X	E	+	1	0	EPHA6	98734011	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.767000	0.95098	0.563000	0.77884	GAA	EPHA6	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000080224		0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	208	0.00	0	G	NM_001080448		97251321	97251321	+1	no_errors	ENST00000389672	ensembl	human	known	69_37n	nonsense	94	30.37	41	SNP	1.000	T
EPHB1	2047	genome.wustl.edu	37	3	134825414	134825414	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:134825414G>A	ENST00000398015.3	+	4	1300	c.930G>A	c.(928-930)gcG>gcA	p.A310A	EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	310	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTACCGAGCGGACTTTGACC	0.602																																						dbGAP											0													54.0	55.0	54.0					3																	134825414		1935	4141	6076	-	-	-	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.930G>A	3.37:g.134825414G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.A310	ENST00000398015.3	37	c.930	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt	ENSG00000154928		0.602	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	184	0.00	0	G	NM_004441		134825414	134825414	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	silent	117	27.33	44	SNP	0.003	A
EPHX4	253152	genome.wustl.edu	37	1	92511185	92511185	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:92511185T>C	ENST00000370383.4	+	4	670	c.572T>C	c.(571-573)gTt>gCt	p.V191A		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	191						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						AAGCTTATTGTTATTAACTTC	0.398																																					GBM(140;473 1857 5172 22066 49719)	dbGAP											0													200.0	172.0	181.0					1																	92511185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.572T>C	1.37:g.92511185T>C	ENSP00000359410:p.Val191Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCC6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.V191A	ENST00000370383.4	37	c.572	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393490	0.62066	.	.	ENSG00000172031	ENST00000370383	T	0.65732	-0.17	6.03	4.9	0.64082	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	L	0.43554	1.36	0.58432	D	0.999994	B	0.33379	0.41	B	0.37091	0.241	T	0.32134	-0.9918	10	0.05833	T	0.94	.	11.979	0.53109	0.0:0.0671:0.0:0.9329	.	191	Q8IUS5	EPHX4_HUMAN	A	191	ENSP00000359410:V191A	ENSP00000359410:V191A	V	+	2	0	EPHX4	92283773	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	1.107000	0.41642	0.533000	0.62120	GTT	EPHX4	-	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	ENSG00000172031		0.398	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	476	0.00	0	T	NM_173567		92511185	92511185	+1	no_errors	ENST00000370383	ensembl	human	known	69_37n	missense	310	16.44	61	SNP	1.000	C
EPHX4	253152	genome.wustl.edu	37	1	92518135	92518135	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:92518135G>T	ENST00000370383.4	+	6	875	c.777G>T	c.(775-777)gaG>gaT	p.E259D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	259						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TAACAACAGAGGATCTTGAAG	0.333																																					GBM(140;473 1857 5172 22066 49719)	dbGAP											0													76.0	71.0	73.0					1																	92518135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.777G>T	1.37:g.92518135G>T	ENSP00000359410:p.Glu259Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NCC6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.E259D	ENST00000370383.4	37	c.777	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774468	0.31411	.	.	ENSG00000172031	ENST00000370383	T	0.03717	3.83	5.06	3.93	0.45458	.	0.045956	0.85682	D	0.000000	T	0.01695	0.0054	L	0.58354	1.805	0.52501	D	0.99995	B	0.09022	0.002	B	0.17979	0.02	T	0.39099	-0.9630	10	0.30854	T	0.27	.	7.1246	0.25465	0.7213:0.0:0.2787:0.0	.	259	Q8IUS5	EPHX4_HUMAN	D	259	ENSP00000359410:E259D	ENSP00000359410:E259D	E	+	3	2	EPHX4	92290723	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.877000	0.39598	0.768000	0.33290	-0.373000	0.07131	GAG	EPHX4	-	pfam_AB_hydrolase_1	ENSG00000172031		0.333	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	238	0.00	0	G	NM_173567		92518135	92518135	+1	no_errors	ENST00000370383	ensembl	human	known	69_37n	missense	186	11.85	25	SNP	1.000	T
EPM2A	7957	genome.wustl.edu	37	6	145948647	145948647	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:145948647G>A	ENST00000367519.3	-	4	1426	c.901C>T	c.(901-903)Ccg>Tcg	p.P301S		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	301	Tyrosine-protein phosphatase.		P -> L (in EPM2; loss of phosphatase activity; affects glycogen binding; disrupts the interaction with PPP1R3C). {ECO:0000269|PubMed:11175283}.		autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)	p.P301T(1)		kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TAGACAGCCGGCCTCTTGGCC	0.567																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											68.0	72.0	70.0					6																	145948647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.901C>T	6.37:g.145948647G>A	ENSP00000356489:p.Pro301Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_CBM_fam20,superfamily_Carb-bd-like_fold,smart_Dual-sp_phosphatase_subgr_cat,pfscan_CBM_fam20,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P301S	ENST00000367519.3	37	c.901	CCDS5206.1	6	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199915	0.58126	.	.	ENSG00000112425	ENST00000367519;ENST00000392304;ENST00000324857	T	0.63580	-0.05	6.04	4.27	0.50696	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.092556	0.85682	D	0.000000	T	0.64505	0.2604	M	0.70275	2.135	0.48452	D	0.999655	D;D;D	0.71674	0.998;0.997;0.966	D;D;D	0.67231	0.95;0.917;0.921	T	0.66834	-0.5823	10	0.46703	T	0.11	-24.6988	7.8044	0.29193	0.0643:0.1196:0.6919:0.1242	.	301;301;163	O95278;O95278-2;E1P599	EPM2A_HUMAN;.;.	S	301	ENSP00000356489:P301S	ENSP00000320279:P301S	P	-	1	0	EPM2A	145990340	1.000000	0.71417	0.699000	0.30290	0.449000	0.32228	4.160000	0.58164	0.888000	0.36160	0.563000	0.77884	CCG	EPM2A	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000112425		0.567	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2A	HGNC	protein_coding	OTTHUMT00000042564.1	171	0.00	0	G			145948647	145948647	-1	no_errors	ENST00000367519	ensembl	human	known	69_37n	missense	104	16.80	21	SNP	1.000	A
EPS8L3	79574	genome.wustl.edu	37	1	110300114	110300114	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:110300114A>G	ENST00000361965.4	-	11	1064	c.958T>C	c.(958-960)Tcc>Ccc	p.S320P	EPS8L3_ENST00000369805.3_Missense_Mutation_p.S321P|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Missense_Mutation_p.S320P	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	320						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AAGTTCAGGGACTTGAAGAGG	0.577																																						dbGAP											0													85.0	74.0	77.0					1																	110300114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.958T>C	1.37:g.110300114A>G	ENSP00000355255:p.Ser320Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.S321P	ENST00000361965.4	37	c.961	CCDS814.1	1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.682791	0.29872	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	T;T;T	0.22336	1.96;1.96;1.96	5.25	-0.345	0.12624	.	0.449392	0.26041	N	0.026698	T	0.01222	0.0040	N	0.03029	-0.43	0.09310	N	1	B;P;B;P	0.40476	0.001;0.718;0.011;0.478	B;B;B;B	0.37480	0.003;0.251;0.009;0.093	T	0.30794	-0.9966	10	0.05959	T	0.93	0.0897	1.0878	0.01656	0.1517:0.1985:0.1583:0.4916	.	320;320;320;321	A8K2J6;Q8TE67-2;Q8TE67;Q8TE67-3	.;.;ES8L3_HUMAN;.	P	320;321;320	ENSP00000354551:S320P;ENSP00000358820:S321P;ENSP00000355255:S320P	ENSP00000354551:S320P	S	-	1	0	EPS8L3	110101637	0.011000	0.17503	0.011000	0.14972	0.028000	0.11728	0.280000	0.18790	0.014000	0.14944	-0.646000	0.03943	TCC	EPS8L3	-	NULL	ENSG00000198758		0.577	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	96	0.00	0	A	NM_024526		110300114	110300114	-1	no_errors	ENST00000369805	ensembl	human	known	69_37n	missense	69	16.67	14	SNP	0.019	G
EPT1	85465	genome.wustl.edu	37	2	26587769	26587769	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:26587769C>A	ENST00000260585.7	+	3	315	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	66					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)										ATTCAATTTTCTGCTAATGGC	0.308																																						dbGAP											0													100.0	90.0	93.0					2																	26587769		1807	4060	5867	-	-	-	SO:0001583	missense	0				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.196C>A	2.37:g.26587769C>A	ENSP00000260585:p.Leu66Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63ZE3	Missense_Mutation	SNP	pfam_CDP-OH_P_trans	p.L34M	ENST00000260585.7	37	c.100	CCDS46240.1	2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372326	0.61624	.	.	ENSG00000138018	ENST00000442141;ENST00000260585;ENST00000447170	T;T	0.47177	0.85;0.85	5.96	2.87	0.33458	.	0.291552	0.35262	N	0.003328	T	0.58680	0.2139	M	0.75085	2.285	0.33300	D	0.564721	P	0.52316	0.952	P	0.57846	0.828	T	0.68390	-0.5421	10	0.54805	T	0.06	-9.9119	7.4732	0.27361	0.0:0.6477:0.0:0.3523	.	66	Q9C0D9	EPT1_HUMAN	M	34;66;66	ENSP00000415280:L34M;ENSP00000260585:L66M	ENSP00000260585:L66M	L	+	1	2	EPT1	26441273	0.744000	0.28250	0.957000	0.39632	0.995000	0.86356	0.461000	0.21940	0.869000	0.35703	0.655000	0.94253	CTG	EPT1	-	pfam_CDP-OH_P_trans	ENSG00000138018		0.308	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	EPT1	HGNC	protein_coding	OTTHUMT00000324484.3	348	0.00	0	C	NM_033505.2		26587769	26587769	+1	no_stop_codon	ENST00000442141	ensembl	human	known	69_37n	missense	218	16.15	42	SNP	0.973	A
EPYC	1833	genome.wustl.edu	37	12	91358040	91358040	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:91358040G>A	ENST00000261172.3	-	7	954	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	288					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)	p.R288C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGTGCCTTACGAATATAAGTC	0.363																																						dbGAP											1	Substitution - Missense(1)	NS(1)											130.0	119.0	123.0					12																	91358040		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.862C>T	12.37:g.91358040G>A	ENSP00000261172:p.Arg288Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R288C	ENST00000261172.3	37	c.862	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228026	0.79576	.	.	ENSG00000083782	ENST00000261172	T	0.02552	4.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00173	-1.1957	10	0.87932	D	0	.	19.579	0.95458	0.0:0.0:1.0:0.0	.	288	Q99645	EPYC_HUMAN	C	288	ENSP00000261172:R288C	ENSP00000261172:R288C	R	-	1	0	EPYC	89882171	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.136000	0.64783	2.617000	0.88574	0.591000	0.81541	CGT	EPYC	-	NULL	ENSG00000083782		0.363	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	203	0.00	0	G	NM_004950		91358040	91358040	-1	no_errors	ENST00000261172	ensembl	human	known	69_37n	missense	135	27.81	52	SNP	1.000	A
ERAP2	64167	genome.wustl.edu	37	5	96215570	96215570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:96215570C>T	ENST00000437043.3	+	2	892	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ERAP2_ENST00000510309.1_Nonsense_Mutation_p.R61*|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Nonsense_Mutation_p.R61*	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	61					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TAATGGGGAACGATTTCCTTG	0.493																																						dbGAP											0													74.0	71.0	72.0					5																	96215570		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.181C>T	5.37:g.96215570C>T	ENSP00000400376:p.Arg61*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R61*	ENST00000437043.3	37	c.181	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.967888	0.97156	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	.	.	.	4.6	2.6	0.31112	.	0.423935	0.23524	N	0.047258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	10.3057	0.43678	0.5212:0.4788:0.0:0.0	.	.	.	.	X	61	.	ENSP00000369235:R61X	R	+	1	2	ERAP2	96241326	0.003000	0.15002	0.989000	0.46669	0.912000	0.54170	1.430000	0.34914	1.023000	0.39654	0.558000	0.71614	CGA	ERAP2	-	NULL	ENSG00000164308		0.493	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	245	0.00	0	C	NM_022350		96215570	96215570	+1	no_errors	ENST00000437043	ensembl	human	known	69_37n	nonsense	146	22.34	42	SNP	0.789	T
ERBB2	2064	genome.wustl.edu	37	17	37868196	37868196	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:37868196C>T	ENST00000269571.5	+	8	1076	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ERBB2_ENST00000445658.2_Missense_Mutation_p.T30M|ERBB2_ENST00000584450.1_Missense_Mutation_p.T306M|ERBB2_ENST00000540042.1_Missense_Mutation_p.T276M|ERBB2_ENST00000540147.1_Missense_Mutation_p.T276M|ERBB2_ENST00000406381.2_Missense_Mutation_p.T276M|ERBB2_ENST00000578199.1_Missense_Mutation_p.T276M|ERBB2_ENST00000541774.1_Missense_Mutation_p.T291M|ERBB2_ENST00000584601.1_Missense_Mutation_p.T276M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	306					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TACCTTTCTACGGACGTGGGA	0.572		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													280.0	231.0	248.0					17																	37868196		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.917C>T	17.37:g.37868196C>T	ENSP00000269571:p.Thr306Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T306M	ENST00000269571.5	37	c.917	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	12.40	1.928002	0.34002	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.70404	0.3220	L	0.35644	1.08	0.47245	D	0.999364	D;P;P;D;P	0.63046	0.983;0.903;0.801;0.992;0.956	P;B;B;P;P	0.61132	0.659;0.273;0.117;0.884;0.593	T	0.70684	-0.4804	9	0.56958	D	0.05	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	30;276;291;306;306	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	M	276;291;30;306;276;276	ENSP00000385185:T276M;ENSP00000446466:T291M;ENSP00000404047:T30M;ENSP00000269571:T306M;ENSP00000443562:T276M;ENSP00000446382:T276M	ENSP00000269571:T306M	T	+	2	0	ERBB2	35121722	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	3.487000	0.53222	2.766000	0.95052	0.491000	0.48974	ACG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000141736		0.572	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	61	0.00	0	C			37868196	37868196	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	15	34.78	8	SNP	1.000	T
ERC1	23085	genome.wustl.edu	37	12	1137499	1137499	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:1137499C>T	ENST00000397203.2	+	2	836	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	ERC1_ENST00000543086.3_Missense_Mutation_p.R144C|ERC1_ENST00000360905.4_Missense_Mutation_p.R144C|ERC1_ENST00000355446.5_Missense_Mutation_p.R144C|ERC1_ENST00000546231.2_Missense_Mutation_p.R144C|ERC1_ENST00000589028.1_Missense_Mutation_p.R144C			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	144					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCACTCCCTTCGTCAGGCGAG	0.483																																						dbGAP											0													135.0	117.0	123.0					12																	1137499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.430C>T	12.37:g.1137499C>T	ENSP00000380386:p.Arg144Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.R144C	ENST00000397203.2	37	c.430	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021759	0.54576	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.966;0.943	D	0.92076	0.5668	10	0.72032	D	0.01	-9.9298	20.0621	0.97678	0.0:1.0:0.0:0.0	.	144;144;144	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	C	144	ENSP00000340054:R144C;ENSP00000380386:R144C;ENSP00000438546:R144C;ENSP00000445336:R144C;ENSP00000442976:R144C;ENSP00000442739:R144C;ENSP00000347621:R144C;ENSP00000354158:R144C;ENSP00000410064:R144C	ENSP00000299183:R144C	R	+	1	0	ERC1	1007760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.831000	0.62752	2.750000	0.94351	0.655000	0.94253	CGT	ERC1	-	NULL	ENSG00000082805		0.483	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	240	0.00	0	C	NM_015064		1137499	1137499	+1	no_errors	ENST00000360905	ensembl	human	known	69_37n	missense	194	13.33	30	SNP	1.000	T
ERC1	23085	genome.wustl.edu	37	12	1481061	1481061	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:1481061C>T	ENST00000397203.2	+	16	3249	c.2843C>T	c.(2842-2844)tCg>tTg	p.S948L	ERC1_ENST00000543086.3_Missense_Mutation_p.S920L|ERC1_ENST00000360905.4_Missense_Mutation_p.S948L|ERC1_ENST00000355446.5_Missense_Mutation_p.S948L|ERC1_ENST00000546231.2_Missense_Mutation_p.S952L|ERC1_ENST00000589028.1_Missense_Mutation_p.S948L			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	948					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTGGAGCTTTCGTCCTCTAAG	0.493																																						dbGAP											0													60.0	57.0	58.0					12																	1481061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2843C>T	12.37:g.1481061C>T	ENSP00000380386:p.Ser948Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.S948L	ENST00000397203.2	37	c.2843	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015537	0.93404	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.999;0.99;0.99;0.999	T	0.70605	-0.4826	10	0.56958	D	0.05	-7.5619	19.6853	0.95977	0.0:1.0:0.0:0.0	.	656;924;920;948	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	L	880;948;924;880;652;920;924;652;948;948;948;924;656	ENSP00000340054:S880L;ENSP00000380386:S948L;ENSP00000438546:S920L;ENSP00000442976:S652L;ENSP00000347621:S948L;ENSP00000354158:S948L;ENSP00000410064:S924L	ENSP00000299183:S652L	S	+	2	0	ERC1	1351322	1.000000	0.71417	0.921000	0.36526	0.746000	0.42486	7.818000	0.86416	2.642000	0.89623	0.655000	0.94253	TCG	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.493	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	169	0.00	0	C	NM_015064		1481061	1481061	+1	no_errors	ENST00000360905	ensembl	human	known	69_37n	missense	96	16.52	19	SNP	1.000	T
ERC2	26059	genome.wustl.edu	37	3	56026099	56026099	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:56026099G>A	ENST00000288221.6	-	11	2496	c.2241C>T	c.(2239-2241)atC>atT	p.I747I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	747						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGTTCTGCGATCTTCTTGT	0.498																																						dbGAP											0													185.0	186.0	186.0					3																	56026099		1950	4135	6085	-	-	-	SO:0001819	synonymous_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2241C>T	3.37:g.56026099G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.S398L	ENST00000288221.6	37	c.1193	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	g	0.321	-0.961704	0.02249	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.79	-5.35	0.02697	.	.	.	.	.	T	0.52549	0.1741	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52503	-0.8567	4	.	.	.	-11.9266	9.8651	0.41138	0.5793:0.0:0.3379:0.0828	.	.	.	.	L	398	.	.	S	-	2	0	ERC2	56001139	0.237000	0.23815	0.351000	0.25721	0.457000	0.32468	-0.236000	0.09003	-1.778000	0.01282	-2.249000	0.00283	TCG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.498	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	199	0.00	0	G	NM_015576		56026099	56026099	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492584	ensembl	human	known	69_37n	missense	143	19.21	34	SNP	0.861	A
ERC2	26059	genome.wustl.edu	37	3	56207538	56207538	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:56207538C>T	ENST00000288221.6	-	4	1340	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	362						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGGCTTCTTCGGTGCAATTC	0.502																																						dbGAP											0													72.0	78.0	76.0					3																	56207538		2128	4243	6371	-	-	-	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1085G>A	3.37:g.56207538C>T	ENSP00000288221:p.Arg362Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R362Q	ENST00000288221.6	37	c.1085	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.501109|4.501109	0.85176|0.85176	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.40225	.|1.04	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49115|0.49115	0.1538|0.1538	M|M	0.62723|0.62723	1.935|1.935	0.46167|0.46167	D|D	0.998901|0.998901	.|P	.|0.51933	.|0.949	.|P	.|0.45660	.|0.489	T|T	0.50338|0.50338	-0.8840|-0.8840	5|10	.|0.44086	.|T	.|0.13	-7.7143|-7.7143	19.3425|19.3425	0.94349|0.94349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|362	.|O15083	.|ERC2_HUMAN	K|Q	1|362	.|ENSP00000288221:R362Q	.|ENSP00000288221:R362Q	E|R	-|-	1|2	0|0	ERC2|ERC2	56182578|56182578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.345000|7.345000	0.79337|0.79337	2.643000|2.643000	0.89663|0.89663	0.557000|0.557000	0.71058|0.71058	GAA|CGA	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	204	0.49	1	C	NM_015576		56207538	56207538	-1	no_errors	ENST00000288221	ensembl	human	known	69_37n	missense	125	48.19	120	SNP	1.000	T
ERCC4	2072	genome.wustl.edu	37	16	14029527	14029527	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:14029527C>A	ENST00000311895.7	+	8	1747	c.1738C>A	c.(1738-1740)Ctt>Att	p.L580I	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	580					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ATACGTGGTTCTTTATGACGC	0.488			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													79.0	77.0	78.0					16																	14029527		2197	4300	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1738C>A	16.37:g.14029527C>A	ENSP00000310520:p.Leu580Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.L580I	ENST00000311895.7	37	c.1738	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276438	0.59649	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.63744	-0.06	5.33	-0.911	0.10507	.	0.000000	0.64402	D	0.000001	T	0.74550	0.3731	M	0.78049	2.395	0.27946	N	0.937329	D	0.89917	1.0	D	0.85130	0.997	T	0.68465	-0.5401	10	0.49607	T	0.09	-16.3106	11.3496	0.49579	0.0:0.5429:0.0:0.4571	.	580	Q92889	XPF_HUMAN	I	580;569	ENSP00000310520:L580I	ENSP00000310520:L580I	L	+	1	0	ERCC4	13937028	0.000000	0.05858	0.008000	0.14137	0.965000	0.64279	-0.289000	0.08365	-0.004000	0.14419	0.591000	0.81541	CTT	ERCC4	-	tigrfam_Rad1	ENSG00000175595		0.488	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	83	0.00	0	C	NM_005236		14029527	14029527	+1	no_errors	ENST00000311895	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.004	A
ERCC4	2072	genome.wustl.edu	37	16	14041854	14041854	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:14041854C>A	ENST00000311895.7	+	11	2410	c.2401C>A	c.(2401-2403)Ctc>Atc	p.L801I		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	801	Nuclease.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACTACGGATTCTCTGGTGCCC	0.522			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													76.0	75.0	75.0					16																	14041854		2197	4300	6497	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2401C>A	16.37:g.14041854C>A	ENSP00000310520:p.Leu801Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.L801I	ENST00000311895.7	37	c.2401	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565272	0.65651	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.20881	2.04	6.16	6.16	0.99307	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	0.121186	0.56097	D	0.000023	T	0.17280	0.0415	N	0.25245	0.725	0.80722	D	1	P	0.44044	0.825	B	0.43445	0.42	T	0.01444	-1.1353	10	0.05351	T	0.99	-23.8716	19.4379	0.94804	0.0:1.0:0.0:0.0	.	801	Q92889	XPF_HUMAN	I	801;789	ENSP00000310520:L801I	ENSP00000310520:L801I	L	+	1	0	ERCC4	13949355	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	4.490000	0.60319	2.937000	0.99478	0.650000	0.86243	CTC	ERCC4	-	superfamily_Restrct_endonuc-II-like,tigrfam_Rad1	ENSG00000175595		0.522	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	139	0.71	1	C	NM_005236		14041854	14041854	+1	no_errors	ENST00000311895	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	1.000	A
ERCC6	2074	genome.wustl.edu	37	10	50678264	50678264	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50678264C>A	ENST00000355832.5	-	18	3820	c.3742G>T	c.(3742-3744)Gac>Tac	p.D1248Y	ERCC6_ENST00000542458.1_Missense_Mutation_p.D618Y|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1248					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACATAATCGTCATTGCTCTGT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													332.0	315.0	321.0					10																	50678264		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3742G>T	10.37:g.50678264C>A	ENSP00000348089:p.Asp1248Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1248Y	ENST00000355832.5	37	c.3742	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759955	0.89932	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.89939	-2.59;-2.34	5.56	5.56	0.83823	.	.	.	.	.	D	0.95570	0.8560	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	D	0.95933	0.8940	9	0.87932	D	0	-22.0174	19.5168	0.95168	0.0:1.0:0.0:0.0	.	1248;625	Q03468;Q59FF6	ERCC6_HUMAN;.	Y	1248;625;618	ENSP00000348089:D1248Y;ENSP00000445134:D618Y	ENSP00000348089:D1248Y	D	-	1	0	ERCC6	50348270	1.000000	0.71417	0.622000	0.29159	0.959000	0.62525	7.666000	0.83877	2.621000	0.88768	0.591000	0.81541	GAC	ERCC6	-	NULL	ENSG00000225830		0.418	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	911	0.00	0	C	NM_000124		50678264	50678264	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	640	11.10	80	SNP	1.000	A
ERCC6	2074	genome.wustl.edu	37	10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K|PGBD3_ENST00000374127.3_5'Flank|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	272					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATACTTTTCGAAGCCTGAT	0.458								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													165.0	161.0	163.0					10																	50732662		2203	4300	6503	-	-	-	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.814G>A	10.37:g.50732662C>T	ENSP00000348089:p.Glu272Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E272K	ENST00000355832.5	37	c.814	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.575942	0.96553	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.86432	-2.12;2.61;2.61	6.03	6.03	0.97812	.	.	.	.	.	D	0.91794	0.7404	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.58820	0.833;0.846	D	0.89682	0.3891	9	0.32370	T	0.25	-37.346	18.7472	0.91797	0.0:1.0:0.0:0.0	.	272;272	E7EV46;Q03468	.;ERCC6_HUMAN	K	272	ENSP00000348089:E272K;ENSP00000423550:E272K;ENSP00000387966:E272K	ENSP00000348089:E272K	E	-	1	0	ERCC6;RP11-123B3.6	50402668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.461000	0.80834	2.854000	0.98071	0.655000	0.94253	GAA	ERCC6	-	NULL	ENSG00000225830		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	298	0.00	0	C	NM_000124		50732662	50732662	-1	no_errors	ENST00000355832	ensembl	human	known	69_37n	missense	311	14.09	51	SNP	1.000	T
ERCC6L2	375748	genome.wustl.edu	37	9	98774542	98774542	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:98774542C>T	ENST00000407474.3	+	4	1166	c.653C>T	c.(652-654)tCg>tTg	p.S218L				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1248	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TATTTTAACTCGTCTTCTGTA	0.303																																						dbGAP											0													42.0	43.0	43.0					9																	98774542		2200	4297	6497	-	-	-	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.653C>T	9.37:g.98774542C>T	ENSP00000384365:p.Ser218Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	NULL	p.S218L	ENST00000407474.3	37	c.653		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.326|0.326	-0.958833|-0.958833	0.02267|0.02267	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000320486|ENST00000407474	.|.	.|.	.|.	4.59|4.59	-0.476|-0.476	0.12100|0.12100	.|.	.|1.293140	.|0.05755	.|N	.|0.603973	T|T	0.13628|0.13628	0.0330|0.0330	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.01281	.|0.0	T|T	0.23084|0.23084	-1.0198|-1.0198	4|8	.|0.02654	.|T	.|1	.|.	4.8585|4.8585	0.13571|0.13571	0.1329:0.3301:0.0:0.5369|0.1329:0.3301:0.0:0.5369	.|.	.|218	.|A4D997	.|CI102_HUMAN	C|L	209|218	.|.	.|ENSP00000384365:S218L	R|S	+|+	1|2	0|0	C9orf102|C9orf102	97814363|97814363	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.977000|0.977000	0.68977|0.68977	0.609000|0.609000	0.24238|0.24238	-0.160000|-0.160000	0.11002|0.11002	0.650000|0.650000	0.86243|0.86243	CGT|TCG	ERCC6L2	-	NULL	ENSG00000182150		0.303	ERCC6L2-201	KNOWN	basic	protein_coding	ERCC6L2	HGNC	protein_coding		118	0.00	0	C	NM_001010895		98774542	98774542	+1	no_errors	ENST00000407474	ensembl	human	known	69_37n	missense	61	21.79	17	SNP	0.000	T
ERG	2078	genome.wustl.edu	37	21	39947596	39947596	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:39947596G>A	ENST00000417133.2	-	3	214	c.29C>T	c.(28-30)gCt>gTt	p.A10V	ERG_ENST00000398919.2_Missense_Mutation_p.A10V|ERG_ENST00000398910.1_Missense_Mutation_p.A10V|ERG_ENST00000442448.1_Missense_Mutation_p.A10V|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398897.1_5'UTR|ERG_ENST00000398911.1_Missense_Mutation_p.A10V	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTTGATATGAGCTGCTGGGTC	0.507			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	dbGAP		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													106.0	88.0	94.0					21																	39947596		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.29C>T	21.37:g.39947596G>A	ENSP00000414150:p.Ala10Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.A10V	ENST00000417133.2	37	c.29	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906701	0.33628	.	.	ENSG00000157554	ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919	T;T;T;T;T	0.15256	2.47;2.44;2.47;2.47;2.44	5.15	3.31	0.37934	.	1.638540	0.02927	N	0.138697	T	0.12178	0.0296	N	0.14661	0.345	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.14008	-1.0488	10	0.15499	T	0.54	.	9.7472	0.40453	0.1696:0.0:0.8304:0.0	.	10;10;10	P11308;P11308-6;P11308-1	ERG_HUMAN;.;.	V	10	ENSP00000381882:A10V;ENSP00000414150:A10V;ENSP00000381881:A10V;ENSP00000394694:A10V;ENSP00000381891:A10V	ENSP00000381881:A10V	A	-	2	0	ERG	38869466	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.816000	0.38992	0.796000	0.33947	0.655000	0.94253	GCT	ERG	-	NULL	ENSG00000157554		0.507	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	251	0.00	0	G	NM_182918		39947596	39947596	-1	no_errors	ENST00000398919	ensembl	human	known	69_37n	missense	192	15.04	34	SNP	1.000	A
ERMN	57471	genome.wustl.edu	37	2	158181185	158181185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:158181185C>A	ENST00000410096.1	-	2	622	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	ERMN_ENST00000409216.1_Nonsense_Mutation_p.E111*|ERMN_ENST00000535935.1_Nonsense_Mutation_p.E5*|ERMN_ENST00000409925.1_Nonsense_Mutation_p.E111*|ERMN_ENST00000420719.2_Nonsense_Mutation_p.E91*|ERMN_ENST00000397283.2_Nonsense_Mutation_p.E124*	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	111					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TTGTTACCTTCTCTGAATGTC	0.378																																						dbGAP											0													110.0	105.0	106.0					2																	158181185		1870	4090	5960	-	-	-	SO:0001587	stop_gained	0			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.331G>T	2.37:g.158181185C>A	ENSP00000387047:p.Glu111*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKA6|Q9ULN1	Nonsense_Mutation	SNP	superfamily_Moesin	p.E124*	ENST00000410096.1	37	c.370	CCDS46431.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.219653	0.97385	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	.	.	.	6.07	5.2	0.72013	.	0.185394	0.38663	N	0.001612	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.5639	0.50794	0.0:0.9183:0.0:0.0817	.	.	.	.	X	111;124;5;91;111;111;111;111;108	.	ENSP00000380453:E124X	E	-	1	0	ERMN	157889431	1.000000	0.71417	0.998000	0.56505	0.695000	0.40330	1.729000	0.38115	1.584000	0.49913	-0.137000	0.14449	GAA	ERMN	-	NULL	ENSG00000136541		0.378	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	HGNC	protein_coding	OTTHUMT00000332659.1	262	0.00	0	C	NM_001009959		158181185	158181185	-1	no_errors	ENST00000397283	ensembl	human	known	69_37n	nonsense	183	13.68	29	SNP	0.999	A
ERP27	121506	genome.wustl.edu	37	12	15091359	15091359	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:15091359C>T	ENST00000266397.2	-	1	657	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	28						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CTGAGGATTTCTcaacttctg	0.478																																						dbGAP											0													90.0	85.0	87.0					12																	15091359		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.84G>A	12.37:g.15091359C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Thioredoxin-like_fold	p.E28	ENST00000266397.2	37	c.84	CCDS8670.1	12																																																																																			ERP27	-	NULL	ENSG00000139055		0.478	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	186	0.00	0	C	NM_152321		15091359	15091359	-1	no_errors	ENST00000266397	ensembl	human	known	69_37n	silent	135	11.18	17	SNP	0.008	T
ERVFRD-1	405754	genome.wustl.edu	37	6	11104936	11104936	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:11104936C>T	ENST00000472091.1	-	2	983	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R203Q|SMIM13_ENST00000416247.2_Intron	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	203					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.R203Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CCAGAAGTTTCGAGTACTGCA	0.463																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											73.0	82.0	79.0					6																	11104936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.608G>A	6.37:g.11104936C>T	ENSP00000420174:p.Arg203Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.R203Q	ENST00000472091.1	37	c.608	CCDS4519.1	6	.	.	.	.	.	.	.	.	.	.	C	5.755	0.323699	0.10900	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.14640	2.49;2.49	0.225	0.225	0.15325	.	.	.	.	.	T	0.01387	0.0045	N	0.22421	0.69	0.09310	N	1	D	0.52996	0.957	B	0.29077	0.098	T	0.41592	-0.9500	8	0.11794	T	0.64	.	.	.	.	.	203	P60508	EFRD1_HUMAN	Q	203	ENSP00000420174:R203Q;ENSP00000444461:R203Q	ENSP00000420174:R203Q	R	-	2	0	ERVFRD-1	11212922	0.261000	0.24063	0.035000	0.18076	0.035000	0.12851	0.305000	0.19254	0.300000	0.22699	0.305000	0.20034	CGA	ERVFRD-1	-	NULL	ENSG00000244476		0.463	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVFRD-1	HGNC	protein_coding	OTTHUMT00000353776.1	42	0.00	0	C	NM_207582		11104936	11104936	-1	no_errors	ENST00000472091	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.045	T
ERVK13-1	100507321	genome.wustl.edu	37	16	2712545	2712545	+	RNA	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:2712545A>T	ENST00000568395.1	-	0	4182					NR_040023.1		Q9NX77	ENK13_HUMAN	endogenous retrovirus group K13, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)	structural molecule activity (GO:0005198)										ttggagcccaatcaataacaa	0.388																																						dbGAP											0													111.0	89.0	96.0					16																	2712545		692	1591	2283	-	-	-			0					16p13.3	2011-12-16				ENSG00000260565			27548	other	endogenous retrovirus	"""HERV-K_16p3.3 provirus ancestral Env polyprotein"""						Standard	NR_040023		Approved		uc010bss.2	Q9NX77			16.37:g.2712545A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G3	RNA	SNP	-	NULL	ENST00000568395.1	37	NULL		16																																																																																			ERVK13-1	-	-	ENSG00000260565		0.388	ERVK13-1-001	KNOWN	basic	lincRNA	ERVK13-1	HGNC	processed_transcript	OTTHUMT00000431428.1	123	0.00	0	A	NR_040023		2712545	2712545	-1	no_errors	ENST00000568395	ensembl	human	known	69_37n	rna	96	14.29	16	SNP	0.181	T
ESCO1	114799	genome.wustl.edu	37	18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T	rs200657231		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:19144267C>T	ENST00000269214.5	-	7	2655	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	573					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R573Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGAATGATTTCGTGGTGTCTC	0.294																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											77.0	73.0	74.0					18																	19144267		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1718G>A	18.37:g.19144267C>T	ENSP00000269214:p.Arg573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	NULL	p.R573Q	ENST00000269214.5	37	c.1718	CCDS32800.1	18	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395129	0.25205	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57107	0.42;2.01	4.92	3.06	0.35304	.	0.502328	0.18216	N	0.148031	T	0.28167	0.0695	N	0.08118	0	0.25621	N	0.986406	B	0.12630	0.006	B	0.04013	0.001	T	0.16571	-1.0398	10	0.12766	T	0.61	-3.549	10.2965	0.43627	0.0:0.154:0.6989:0.147	.	573	Q5FWF5	ESCO1_HUMAN	Q	573	ENSP00000269214:R573Q;ENSP00000372763:R573Q	ENSP00000269214:R573Q	R	-	2	0	ESCO1	17398265	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	1.392000	0.34486	0.552000	0.29026	-0.165000	0.13383	CGA	ESCO1	-	NULL	ENSG00000141446		0.294	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO1	HGNC	protein_coding	OTTHUMT00000443942.1	357	0.00	0	C	NM_052911		19144267	19144267	-1	no_errors	ENST00000269214	ensembl	human	known	69_37n	missense	179	24.47	58	SNP	0.997	T
ESCO2	157570	genome.wustl.edu	37	8	27634097	27634097	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:27634097A>C	ENST00000305188.8	+	3	510	c.272A>C	c.(271-273)aAg>aCg	p.K91T	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR|RNU6-1276P_ENST00000365372.1_RNA	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	91					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AACCAAAATAAGTGGTACCTC	0.368									SC Phocomelia syndrome																													dbGAP											0													60.0	59.0	60.0					8																	27634097		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.272A>C	8.37:g.27634097A>C	ENSP00000306999:p.Lys91Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.K91T	ENST00000305188.8	37	c.272	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725016	0.68959	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.72505	0.25;-0.66;0.26	5.63	5.63	0.86233	.	0.087494	0.85682	D	0.000000	T	0.82213	0.4988	M	0.74258	2.255	0.80722	D	1	D;D	0.71674	0.998;0.991	D;P	0.68943	0.961;0.781	D	0.84204	0.0452	10	0.72032	D	0.01	-10.9406	12.5088	0.55995	1.0:0.0:0.0:0.0	.	91;91	E5RFE4;Q56NI9	.;ESCO2_HUMAN	T	91	ENSP00000428435:K91T;ENSP00000306999:K91T;ENSP00000428027:K91T	ENSP00000306999:K91T	K	+	2	0	ESCO2	27690016	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.610000	0.61155	2.273000	0.75805	0.482000	0.46254	AAG	ESCO2	-	NULL	ENSG00000171320		0.368	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	175	0.00	0	A	NM_001017420		27634097	27634097	+1	no_errors	ENST00000305188	ensembl	human	known	69_37n	missense	99	15.38	18	SNP	0.998	C
ESF1	51575	genome.wustl.edu	37	20	13763243	13763243	+	Missense_Mutation	SNP	C	C	T	rs186231642	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:13763243C>T	ENST00000202816.1	-	2	651	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGTTTTTCTTCGAGAGAAGAG	0.348													C|||	2	0.000399361	0.0	0.0029	5008	,	,		15724	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													57.0	57.0	57.0					20																	13763243		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.544G>A	20.37:g.13763243C>T	ENSP00000202816:p.Glu182Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	pfam_NUC153	p.E182K	ENST00000202816.1	37	c.544	CCDS13117.1	20	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.007	-1.963986	0.00461	.	.	ENSG00000089048	ENST00000202816	T	0.20881	2.04	5.1	3.99	0.46301	.	0.418275	0.22131	N	0.064194	T	0.05502	0.0145	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	10	0.02654	T	1	.	7.2792	0.26302	0.0:0.0806:0.1871:0.7323	.	182	Q9H501	ESF1_HUMAN	K	182	ENSP00000202816:E182K	ENSP00000202816:E182K	E	-	1	0	ESF1	13711243	0.996000	0.38824	0.695000	0.30226	0.006000	0.05464	1.932000	0.40143	0.754000	0.32968	-0.383000	0.06682	GAA	ESF1	-	NULL	ENSG00000089048		0.348	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	63	0.00	0	C	NM_016649		13763243	13763243	-1	no_errors	ENST00000202816	ensembl	human	known	69_37n	missense	58	13.43	9	SNP	0.172	T
ESF1	51575	genome.wustl.edu	37	20	13763477	13763477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:13763477C>A	ENST00000202816.1	-	2	417	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	104	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GAATCGATTTCTTTTTTAGTC	0.303																																						dbGAP											0													31.0	33.0	32.0					20																	13763477		2155	4283	6438	-	-	-	SO:0001587	stop_gained	0				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.310G>T	20.37:g.13763477C>A	ENSP00000202816:p.Glu104*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Nonsense_Mutation	SNP	pfam_NUC153	p.E104*	ENST00000202816.1	37	c.310	CCDS13117.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.21|15.21	2.766625|2.766625	0.49574|0.49574	.|.	.|.	ENSG00000089048|ENSG00000089048	ENST00000541185|ENST00000202816	.|.	.|.	.|.	4.86|4.86	2.35|2.35	0.29111|0.29111	.|.	.|0.754934	.|0.12120	.|N	.|0.497726	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.07175	.|T	.|0.84	.|.	4.6873|4.6873	0.12764|0.12764	0.0:0.5426:0.1572:0.3002|0.0:0.5426:0.1572:0.3002	.|.	.|.	.|.	.|.	.|X	-1|104	.|.	.|ENSP00000202816:E104X	.|E	-|-	.|1	.|0	ESF1|ESF1	13711477|13711477	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.033000|0.033000	0.12548|0.12548	0.649000|0.649000	0.24843|0.24843	0.721000|0.721000	0.32231|0.32231	0.591000|0.591000	0.81541|0.81541	.|GAA	ESF1	-	NULL	ENSG00000089048		0.303	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	48	0.00	0	C	NM_016649		13763477	13763477	-1	no_errors	ENST00000202816	ensembl	human	known	69_37n	nonsense	45	15.09	8	SNP	0.002	A
ESR1	2099	genome.wustl.edu	37	6	152420091	152420091	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152420091C>A	ENST00000206249.3	+	8	2140	c.1778C>A	c.(1777-1779)gCc>gAc	p.A593D	ESR1_ENST00000443427.1_Missense_Mutation_p.A593D|ESR1_ENST00000406599.1_Missense_Mutation_p.A332D|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000440973.1_Missense_Mutation_p.A593D|ESR1_ENST00000456483.2_Missense_Mutation_p.A481D|ESR1_ENST00000338799.5_Missense_Mutation_p.A593D	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	593	Interaction with AKAP13.|Self-association.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGTTTCCCTGCCACGGTCTGA	0.537																																						dbGAP											0													49.0	46.0	47.0					6																	152420091		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1778C>A	6.37:g.152420091C>A	ENSP00000206249:p.Ala593Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A593D	ENST00000206249.3	37	c.1778	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660943	0.14645	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.92348	-3.02;-3.02;-2.55;-3.02;-3.02;-0.43	5.56	-2.67	0.06059	Estrogen-type nuclear receptor, C-terminal (1);	0.998708	0.08103	N	0.997379	T	0.78291	0.4260	N	0.08118	0	0.09310	N	1	P;B;B;B;B;B	0.48640	0.913;0.025;0.002;0.003;0.002;0.003	P;B;B;B;B;B	0.49887	0.625;0.038;0.01;0.012;0.007;0.012	T	0.72620	-0.4238	10	0.66056	D	0.02	.	11.4425	0.50105	0.4569:0.1416:0.4014:0.0	.	268;332;520;592;593;593	E7EVR3;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;ESR1_HUMAN	D	593;593;481;268;593;593;332;180;521	ENSP00000405330:A593D;ENSP00000342630:A593D;ENSP00000415934:A481D;ENSP00000387500:A593D;ENSP00000206249:A593D;ENSP00000384064:A332D	ENSP00000206249:A593D	A	+	2	0	ESR1	152461784	0.000000	0.05858	0.014000	0.15608	0.009000	0.06853	-1.497000	0.02289	-0.990000	0.03481	0.650000	0.86243	GCC	ESR1	-	NULL	ENSG00000091831		0.537	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	101	0.00	0	C			152420091	152420091	+1	no_errors	ENST00000206249	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	0.003	A
ESR2	2100	genome.wustl.edu	37	14	64724059	64724059	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64724059C>T	ENST00000341099.4	-	6	1393	c.976G>A	c.(976-978)Gac>Aac	p.D326N	ESR2_ENST00000553796.1_Missense_Mutation_p.D326N|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.D326N|ESR2_ENST00000358599.5_Missense_Mutation_p.D326N|ESR2_ENST00000557772.1_Missense_Mutation_p.D326N|ESR2_ENST00000353772.3_Missense_Mutation_p.D326N|ESR2_ENST00000554572.1_Missense_Mutation_p.D326N|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Missense_Mutation_p.D326N|ESR2_ENST00000357782.2_Missense_Mutation_p.D326N	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	326	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D326H(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGCACTTGGTCGAACAGGCTG	0.572																																						dbGAP											2	Substitution - Missense(2)	lung(2)											98.0	99.0	99.0					14																	64724059		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.976G>A	14.37:g.64724059C>T	ENSP00000343925:p.Asp326Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.D326N	ENST00000341099.4	37	c.976	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	C	30	5.052460	0.93793	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099	D;D;D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58;-4.58	5.85	5.85	0.93711	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.043398	0.85682	D	0.000000	D	0.98595	0.9530	M	0.89287	3.02	0.80722	D	1	P;D;D;P	0.57257	0.871;0.973;0.979;0.951	P;P;P;P	0.54431	0.532;0.653;0.752;0.665	D	0.99174	1.0865	10	0.66056	D	0.02	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	326;326;326;326	Q92731;Q92731-6;Q92731-5;F1D8N3	ESR2_HUMAN;.;.;.	N	326	ENSP00000452485:D326N;ENSP00000441792:D326N;ENSP00000450699:D326N;ENSP00000335551:D326N;ENSP00000351412:D326N;ENSP00000450488:D326N;ENSP00000452426:D326N;ENSP00000350427:D326N;ENSP00000451582:D326N;ENSP00000343925:D326N	ENSP00000343925:D326N	D	-	1	0	ESR2	63793812	1.000000	0.71417	0.965000	0.40720	0.929000	0.56500	7.744000	0.85034	2.761000	0.94854	0.655000	0.94253	GAC	ESR2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000140009		0.572	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	179	0.00	0	C			64724059	64724059	-1	no_errors	ENST00000341099	ensembl	human	known	69_37n	missense	123	22.64	36	SNP	1.000	T
ESR2	2100	genome.wustl.edu	37	14	64735534	64735534	+	Missense_Mutation	SNP	C	C	T	rs556956556		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64735534C>T	ENST00000341099.4	-	4	1048	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	ESR2_ENST00000553796.1_Missense_Mutation_p.E211K|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.E211K|ESR2_ENST00000358599.5_Missense_Mutation_p.E211K|ESR2_ENST00000557772.1_Missense_Mutation_p.E211K|ESR2_ENST00000353772.3_Missense_Mutation_p.E211K|ESR2_ENST00000554572.1_Missense_Mutation_p.E211K|ESR2_ENST00000267525.6_Missense_Mutation_p.E211K|ESR2_ENST00000555278.1_Missense_Mutation_p.E211K|ESR2_ENST00000357782.2_Missense_Mutation_p.E211K	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	211					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATTCCCACTTCGTAACACTTC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19526	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													127.0	122.0	124.0					14																	64735534		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.631G>A	14.37:g.64735534C>T	ENSP00000343925:p.Glu211Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.E211K	ENST00000341099.4	37	c.631	CCDS9762.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.566282	0.96540	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;-4.32;0.93	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.046981	0.85682	D	0.000000	D	0.96775	0.8947	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.79784	0.985;0.993;0.96;0.973;0.984	D	0.98333	1.0534	10	0.87932	D	0	.	19.7793	0.96412	0.0:1.0:0.0:0.0	.	211;211;211;211;211	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	K	211	ENSP00000452485:E211K;ENSP00000441792:E211K;ENSP00000450699:E211K;ENSP00000335551:E211K;ENSP00000351412:E211K;ENSP00000450488:E211K;ENSP00000452426:E211K;ENSP00000350427:E211K;ENSP00000451582:E211K;ENSP00000343925:E211K;ENSP00000267525:E211K	ENSP00000267525:E211K	E	-	1	0	ESR2	63805287	1.000000	0.71417	0.996000	0.52242	0.774000	0.43823	7.731000	0.84895	2.678000	0.91216	0.555000	0.69702	GAA	ESR2	-	pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000140009		0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	417	0.00	0	C			64735534	64735534	-1	no_errors	ENST00000341099	ensembl	human	known	69_37n	missense	308	34.81	165	SNP	1.000	T
ESRRB	2103	genome.wustl.edu	37	14	76957920	76957920	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:76957920C>A	ENST00000509242.1	+	7	1016	c.918C>A	c.(916-918)atC>atA	p.I306I	ESRRB_ENST00000380887.2_Silent_p.I306I|ESRRB_ENST00000556177.1_Silent_p.I306I|ESRRB_ENST00000261532.7_Silent_p.I306I	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	306					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AGGACTACATCATGGATGAGG	0.602																																						dbGAP											0													60.0	47.0	51.0					14																	76957920		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.918C>A	14.37:g.76957920C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.I306	ENST00000509242.1	37	c.918	CCDS9850.2	14																																																																																			ESRRB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000119715		0.602	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1	50	0.00	0	C			76957920	76957920	+1	no_errors	ENST00000380887	ensembl	human	known	69_37n	silent	39	13.33	6	SNP	1.000	A
ESYT3	83850	genome.wustl.edu	37	3	138183346	138183346	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:138183346G>A	ENST00000389567.4	+	9	1261	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	359	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CACCTGGAACGAAGTGTTTGA	0.582																																						dbGAP											0													98.0	80.0	86.0					3																	138183346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1075G>A	3.37:g.138183346G>A	ENSP00000374218:p.Glu359Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.E359K	ENST00000389567.4	37	c.1075	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958429	0.92726	.	.	ENSG00000158220	ENST00000389567	T	0.77750	-1.12	4.79	4.79	0.61399	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058163	0.64402	D	0.000002	D	0.89494	0.6731	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91415	0.5154	10	0.87932	D	0	-14.1733	15.3685	0.74541	0.0:0.0:1.0:0.0	.	359	A0FGR9	ESYT3_HUMAN	K	359	ENSP00000374218:E359K	ENSP00000374218:E359K	E	+	1	0	ESYT3	139666036	1.000000	0.71417	0.931000	0.37212	0.893000	0.52053	8.650000	0.91073	2.492000	0.84095	0.455000	0.32223	GAA	ESYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	ENSG00000158220		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	177	0.00	0	G	NM_031913		138183346	138183346	+1	no_errors	ENST00000389567	ensembl	human	known	69_37n	missense	126	28.00	49	SNP	0.998	A
ETNK1	55500	genome.wustl.edu	37	12	22812029	22812029	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:22812029G>T	ENST00000266517.4	+	3	854	c.765G>T	c.(763-765)aaG>aaT	p.K255N		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	255					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTGGCTAAAGATGGGAAAGT	0.348																																					Esophageal Squamous(42;87 913 3224 6226 43339)	dbGAP											0													93.0	89.0	90.0					12																	22812029		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.765G>T	12.37:g.22812029G>T	ENSP00000266517:p.Lys255Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E969	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.K255N	ENST00000266517.4	37	c.765	CCDS8698.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.58|18.58	3.655764|3.655764	0.67586|0.67586	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000266517;ENST00000381409|ENST00000538218;ENST00000541247	T|.	0.58358|.	0.34|.	5.23|5.23	3.4|3.4	0.38934|0.38934	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63105|0.63105	0.2483|0.2483	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.996;0.998|.	D;D|.	0.75020|.	0.969;0.985|.	T|T	0.58994|0.58994	-0.7537|-0.7537	10|5	0.39692|.	T|.	0.17|.	-18.3487|-18.3487	9.1707|9.1707	0.37078|0.37078	0.2349:0.0:0.7651:0.0|0.2349:0.0:0.7651:0.0	.|.	255;255|.	E9PD44;Q9HBU6|.	.;EKI1_HUMAN|.	N|I	255|246;135	ENSP00000266517:K255N|.	ENSP00000266517:K255N|.	K|R	+|+	3|2	2|0	ETNK1|ETNK1	22703296|22703296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.561000|3.561000	0.53770|0.53770	0.599000|0.599000	0.29845|0.29845	0.484000|0.484000	0.47621|0.47621	AAG|AGA	ETNK1	-	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000139163		0.348	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK1	HGNC	protein_coding	OTTHUMT00000401926.2	282	0.35	1	G	NM_018638		22812029	22812029	+1	no_errors	ENST00000266517	ensembl	human	known	69_37n	missense	181	10.40	21	SNP	1.000	T
ETNK2	55224	genome.wustl.edu	37	1	204103697	204103697	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:204103697G>A	ENST00000367202.4	-	7	1184	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ETNK2_ENST00000367199.2_Missense_Mutation_p.A276V|RP11-74C13.4_ENST00000565388.1_RNA|ETNK2_ENST00000367201.3_Silent_p.G380G|ETNK2_ENST00000367198.2_Missense_Mutation_p.A167V|ETNK2_ENST00000367197.1_Missense_Mutation_p.A27V	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	345					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCCAGAGAGCCCAGAAGAA	0.562																																						dbGAP											0													90.0	82.0	85.0					1																	204103697		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.1034C>T	1.37:g.204103697G>A	ENSP00000356170:p.Ala345Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Choline/ethanolamine_kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.A345V	ENST00000367202.4	37	c.1034	CCDS1442.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.669642|4.669642	0.88348|0.88348	.|.	.|.	ENSG00000143845|ENSG00000143845	ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000367197;ENST00000422699|ENST00000422072	T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;0.32|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Protein kinase-like domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.79505|0.79505	0.4457|0.4457	M|M	0.85197|0.85197	2.74|2.74	0.42587|0.42587	D|D	0.993234|0.993234	P;P|.	0.43542|.	0.766;0.81|.	P;B|.	0.46299|.	0.511;0.389|.	T|T	0.81782|0.81782	-0.0775|-0.0775	9|5	0.87932|.	D|.	0|.	-2.5875|-2.5875	16.3033|16.3033	0.82832|0.82832	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304;345|.	Q9NVF9-3;Q9NVF9|.	.;EKI2_HUMAN|.	V|F	345;276;211;167;27;211|108	ENSP00000356170:A345V;ENSP00000356167:A276V;ENSP00000356166:A167V;ENSP00000356165:A27V;ENSP00000405497:A211V|.	ENSP00000356165:A27V|.	A|L	-|-	2|1	0|0	ETNK2|ETNK2	202370320|202370320	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	3.494000|3.494000	0.53273|0.53273	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	GCT|CTC	ETNK2	-	superfamily_Kinase-like_dom	ENSG00000143845		0.562	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1	173	0.00	0	G	NM_018208		204103697	204103697	-1	no_errors	ENST00000367202	ensembl	human	known	69_37n	missense	125	23.31	38	SNP	0.995	A
ETS2	2114	genome.wustl.edu	37	21	40194729	40194729	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:40194729C>T	ENST00000360214.3	+	11	1786	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	ETS2_ENST00000360938.3_Silent_p.F442F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	442					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGTACCGCTTCGTGTGCGACC	0.607																																						dbGAP											0													103.0	79.0	87.0					21																	40194729		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1326C>T	21.37:g.40194729C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM68|D3DSH6|Q53Y89	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.F442	ENST00000360214.3	37	c.1326	CCDS13659.1	21																																																																																			ETS2	-	pfam_Ets,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	ENSG00000157557		0.607	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS2	HGNC	protein_coding	OTTHUMT00000207544.1	176	0.00	0	C			40194729	40194729	+1	no_errors	ENST00000360214	ensembl	human	known	69_37n	silent	79	30.09	34	SNP	0.989	T
ETV1	2115	genome.wustl.edu	37	7	13971370	13971370	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:13971370G>A	ENST00000430479.1	-	9	1226	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ETV1_ENST00000405192.2_Missense_Mutation_p.R187C|ETV1_ENST00000399357.3_Missense_Mutation_p.R84C|ETV1_ENST00000242066.5_Missense_Mutation_p.R169C|ETV1_ENST00000405218.2_Missense_Mutation_p.R187C|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000343495.5_Missense_Mutation_p.R169C|ETV1_ENST00000403527.1_Missense_Mutation_p.R147C|ETV1_ENST00000420159.2_Missense_Mutation_p.R129C|ETV1_ENST00000405358.4_Missense_Mutation_p.R201C|ETV1_ENST00000403685.1_Missense_Mutation_p.R169C	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	187					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R187C(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGCTGGCGGCGAAATCTAGGG	0.448			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	dbGAP		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	1	Substitution - Missense(1)	large_intestine(1)											74.0	74.0	74.0					7																	13971370		1952	4136	6088	-	-	-	SO:0001583	missense	0				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.559C>T	7.37:g.13971370G>A	ENSP00000405327:p.Arg187Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.R187C	ENST00000430479.1	37	c.559	CCDS55088.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.188457	0.94923	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.40302	N	0.001135	T	0.50326	0.1609	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.959;0.931;0.981;0.995;0.999;0.997;0.953;0.959	T	0.25433	-1.0132	10	0.51188	T	0.08	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	198;169;201;129;84;147;129;187	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	C	187;169;169;129;84;187;201;147;187;169;129;84	ENSP00000405327:R187C;ENSP00000242066:R169C;ENSP00000340853:R169C;ENSP00000411626:R129C;ENSP00000382293:R84C;ENSP00000385381:R187C;ENSP00000384085:R201C;ENSP00000384138:R147C;ENSP00000385551:R187C;ENSP00000385686:R169C;ENSP00000393078:R129C;ENSP00000394710:R84C	ENSP00000242066:R169C	R	-	1	0	ETV1	13937895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.266000	0.78452	2.932000	0.99384	0.644000	0.83932	CGC	ETV1	-	pfam_ETS_PEA3_N	ENSG00000006468		0.448	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	166	0.00	0	G	NM_004956		13971370	13971370	-1	no_errors	ENST00000405218	ensembl	human	known	69_37n	missense	131	25.99	46	SNP	1.000	A
EVC	2121	genome.wustl.edu	37	4	5747026	5747026	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:5747026G>T	ENST00000264956.6	+	7	1081	c.897G>T	c.(895-897)gtG>gtT	p.V299V	EVC_ENST00000509451.1_Silent_p.V299V|EVC_ENST00000382674.2_Silent_p.V299V	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	299					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGGCTGATGTGGAAAAGAAGG	0.428																																						dbGAP											0													128.0	125.0	126.0					4																	5747026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.897G>T	4.37:g.5747026G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.V299	ENST00000264956.6	37	c.897	CCDS3383.1	4																																																																																			EVC	-	NULL	ENSG00000072840		0.428	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	345	0.00	0	G			5747026	5747026	+1	no_errors	ENST00000264956	ensembl	human	known	69_37n	silent	212	28.62	85	SNP	0.981	T
EVI5	7813	genome.wustl.edu	37	1	93101762	93101762	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:93101762C>T	ENST00000370331.1	-	12	1485	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Silent_p.E492E|EVI5_ENST00000543509.1_Silent_p.E503E	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	492	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTCTTACCTTCTCTATATCCA	0.383																																						dbGAP											0													148.0	145.0	146.0					1																	93101762		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1476G>A	1.37:g.93101762C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E503	ENST00000370331.1	37	c.1509	CCDS30774.1	1																																																																																			EVI5	-	NULL	ENSG00000067208		0.383	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	229	0.00	0	C	NM_005665		93101762	93101762	-1	no_errors	ENST00000543509	ensembl	human	known	69_37n	silent	130	15.58	24	SNP	1.000	T
EXD1	161829	genome.wustl.edu	37	15	41522724	41522724	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:41522724G>A	ENST00000314992.5	-	0	171				CHP1_ENST00000334660.5_5'Flank|EXD1_ENST00000559743.1_5'UTR|EXD1_ENST00000458580.2_5'UTR|CHP1_ENST00000560397.1_5'Flank	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTTTTCCTCCGAAGGAAGTTT	0.413											OREG0023072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													94.0	90.0	91.0					15																	41522724		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.-20C>T	15.37:g.41522724G>A		Somatic	901	WXS	Illumina GAIIx	Phase_IV	A8K909|B7Z839|Q6ZW94	RNA	SNP	-	NULL	ENST00000314992.5	37	NULL	CCDS10072.1	15																																																																																			EXD1	-	-	ENSG00000178997		0.413	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	HGNC	protein_coding	OTTHUMT00000252553.2	116	0.00	0	G	NM_152596		41522724	41522724	-1	no_errors	ENST00000559743	ensembl	human	known	69_37n	rna	44	28.57	18	SNP	0.000	A
EXD2	55218	genome.wustl.edu	37	14	69695536	69695536	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:69695536A>C	ENST00000409018.3	+	3	465	c.337A>C	c.(337-339)Aat>Cat	p.N113H	EXD2_ENST00000409949.1_5'UTR|EXD2_ENST00000409242.1_5'UTR|EXD2_ENST00000312994.5_Missense_Mutation_p.N113H|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_5'UTR|EXD2_ENST00000409014.1_5'UTR|EXD2_ENST00000409675.1_5'UTR	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	113							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GTTGCAGGTAAATTTGGAAGG	0.478																																						dbGAP											0													38.0	35.0	36.0					14																	69695536		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.337A>C	14.37:g.69695536A>C	ENSP00000387331:p.Asn113His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.N113H	ENST00000409018.3	37	c.337	CCDS53902.1	14	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056052	0.76074	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000312994	T;T	0.63913	-0.07;-0.07	5.63	5.63	0.86233	.	.	.	.	.	T	0.62575	0.2439	L	0.33245	0.995	0.80722	D	1	D	0.57571	0.98	P	0.56700	0.804	T	0.65611	-0.6126	9	0.62326	D	0.03	-9.4568	9.1409	0.36903	0.7425:0.0:0.0:0.2575	.	113	G5E947	.	H	113	ENSP00000387331:N113H;ENSP00000313140:N113H	ENSP00000193422:N113H	N	+	1	0	EXD2	68765289	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	5.675000	0.68123	2.148000	0.66965	0.460000	0.39030	AAT	EXD2	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000081177		0.478	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	EXD2	HGNC	protein_coding	OTTHUMT00000335504.1	133	0.00	0	A			69695536	69695536	+1	no_errors	ENST00000312994	ensembl	human	known	69_37n	missense	100	27.01	37	SNP	1.000	C
EXOC1	55763	genome.wustl.edu	37	4	56724545	56724545	+	Missense_Mutation	SNP	G	G	A	rs192310507		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:56724545G>A	ENST00000381295.2	+	2	404	c.56G>A	c.(55-57)cGc>cAc	p.R19H	EXOC1_ENST00000349598.6_Missense_Mutation_p.R19H|EXOC1_ENST00000346134.7_Missense_Mutation_p.R19H	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	19					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AATGATGAACGCCTGCTGAGC	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		17883	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													109.0	109.0	109.0					4																	56724545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.56G>A	4.37:g.56724545G>A	ENSP00000370695:p.Arg19His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.R19H	ENST00000381295.2	37	c.56	CCDS3502.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	30	5.050517	0.93740	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	D	0.85860	0.1409	9	0.87932	D	0	.	19.4428	0.94827	0.0:0.0:1.0:0.0	.	19;19	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	H	19	.	ENSP00000326514:R19H	R	+	2	0	EXOC1	56419302	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.300000	0.96151	2.676000	0.91093	0.650000	0.86243	CGC	EXOC1	-	NULL	ENSG00000090989		0.368	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	208	0.00	0	G	NM_018261		56724545	56724545	+1	no_errors	ENST00000346134	ensembl	human	known	69_37n	missense	89	28.80	36	SNP	1.000	A
EXOC1	55763	genome.wustl.edu	37	4	56730461	56730461	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:56730461G>T	ENST00000381295.2	+	4	672	c.324G>T	c.(322-324)aaG>aaT	p.K108N	EXOC1_ENST00000349598.6_Missense_Mutation_p.K108N|EXOC1_ENST00000346134.7_Missense_Mutation_p.K108N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	108					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.K108N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTGCTGAAAAGAATGCATTTA	0.294																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											46.0	45.0	46.0					4																	56730461		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.324G>T	4.37:g.56730461G>T	ENSP00000370695:p.Lys108Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.K108N	ENST00000381295.2	37	c.324	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882957	0.72410	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.28	4.44	0.53790	.	0.044305	0.85682	D	0.000000	T	0.76543	0.4002	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.98	T	0.78663	-0.2116	9	0.59425	D	0.04	.	14.0695	0.64851	0.0737:0.0:0.9263:0.0	.	108;108	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	N	108	.	ENSP00000326514:K108N	K	+	3	2	EXOC1	56425218	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.603000	0.46266	1.341000	0.45600	0.557000	0.71058	AAG	EXOC1	-	NULL	ENSG00000090989		0.294	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	85	0.00	0	G	NM_018261		56730461	56730461	+1	no_errors	ENST00000346134	ensembl	human	known	69_37n	missense	50	32.43	24	SNP	1.000	T
EXOC1	55763	genome.wustl.edu	37	4	56756404	56756404	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:56756404C>T	ENST00000381295.2	+	12	1739	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	EXOC1_ENST00000349598.6_Missense_Mutation_p.S449L|EXOC1_ENST00000346134.7_Missense_Mutation_p.S464L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	464					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CATGGAAGTTCGGGGAAATTA	0.368																																						dbGAP											0													130.0	127.0	128.0					4																	56756404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1391C>T	4.37:g.56756404C>T	ENSP00000370695:p.Ser464Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.S464L	ENST00000381295.2	37	c.1391	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	C	30	5.054150	0.93793	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.43152	1.355	0.80722	D	1	D;P	0.56035	0.974;0.694	P;B	0.48166	0.569;0.106	T	0.57075	-0.7873	9	0.34782	T	0.22	.	19.1943	0.93681	0.0:1.0:0.0:0.0	.	449;464	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	L	464;464;449	.	ENSP00000326514:S464L	S	+	2	0	EXOC1	56451161	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.487000	0.81328	2.552000	0.86080	0.655000	0.94253	TCG	EXOC1	-	pfam_Exocyst_Exoc1	ENSG00000090989		0.368	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	227	0.00	0	C	NM_018261		56756404	56756404	+1	no_errors	ENST00000346134	ensembl	human	known	69_37n	missense	101	15.70	19	SNP	1.000	T
EXOC3L2	90332	genome.wustl.edu	37	19	45731006	45731006	+	Silent	SNP	G	G	A	rs201323099		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:45731006G>A	ENST00000252482.3	-	4	345	c.318C>T	c.(316-318)ttC>ttT	p.F106F	EXOC3L2_ENST00000413988.1_Silent_p.F106F			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	106					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGTTCTCATGGAATCGCTCCA	0.622																																						dbGAP											0													89.0	85.0	86.0					19																	45731006		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.318C>T	19.37:g.45731006G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9W2|Q96GV2	Silent	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.F106	ENST00000252482.3	37	c.318	CCDS12657.1	19																																																																																			EXOC3L2	-	pfam_Sec6	ENSG00000130201		0.622	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	163	0.00	0	G	NM_138568		45731006	45731006	-1	no_errors	ENST00000252482	ensembl	human	known	69_37n	silent	116	21.48	32	SNP	1.000	A
EXOC5	10640	genome.wustl.edu	37	14	57675371	57675371	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:57675371G>A	ENST00000413566.2	-	18	2442	c.2083C>T	c.(2083-2085)Cgt>Tgt	p.R695C	EXOC5_ENST00000340918.7_Missense_Mutation_p.R630C	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	695					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R697C(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TAATCAGCACGAAGTTGTACG	0.413																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											162.0	159.0	160.0					14																	57675371		1865	4098	5963	-	-	-	SO:0001583	missense	0			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.2083C>T	14.37:g.57675371G>A	ENSP00000389934:p.Arg695Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C5	Missense_Mutation	SNP	pfam_Sec10-like	p.R695C	ENST00000413566.2	37	c.2083	CCDS45111.1	14	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286028	0.59867	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	D;D	0.88586	-2.12;-2.4	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.77486	2.375	0.80722	D	1	B;B	0.22346	0.056;0.068	B;B	0.23852	0.029;0.049	D	0.87814	0.2633	10	0.87932	D	0	-8.9832	19.3724	0.94493	0.0:0.0:1.0:0.0	.	630;695	F8W9B8;O00471	.;EXOC5_HUMAN	C	695;630	ENSP00000389934:R695C;ENSP00000342100:R630C	ENSP00000342100:R630C	R	-	1	0	EXOC5	56745124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.008000	0.57103	2.576000	0.86940	0.585000	0.79938	CGT	EXOC5	-	pfam_Sec10-like	ENSG00000070367		0.413	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EXOC5	HGNC	protein_coding	OTTHUMT00000412905.1	223	0.00	0	G	NM_006544		57675371	57675371	-1	no_errors	ENST00000413566	ensembl	human	known	69_37n	missense	130	16.13	25	SNP	1.000	A
EXOC6	54536	genome.wustl.edu	37	10	94653266	94653266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:94653266G>T	ENST00000260762.6	+	2	276	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	EXOC6_ENST00000371547.4_Nonsense_Mutation_p.E104*|EXOC6_ENST00000371552.4_Nonsense_Mutation_p.E83*|EXOC6_ENST00000443748.2_Nonsense_Mutation_p.E88*|EXOC6_ENST00000371543.1_Nonsense_Mutation_p.E88*	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	88					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GACTGATGCAGAAAAACTGAA	0.299																																						dbGAP											0													85.0	92.0	89.0					10																	94653266		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.262G>T	10.37:g.94653266G>T	ENSP00000260762:p.Glu88*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Nonsense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.E104*	ENST00000260762.6	37	c.310	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	35	5.537065	0.96460	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000371543;ENST00000443748;ENST00000260762	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.2669	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	104;83;88;88;88	.	ENSP00000260762:E88X	E	+	1	0	EXOC6	94643246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.588000	0.67517	2.880000	0.98712	0.650000	0.86243	GAA	EXOC6	-	pirsf_Sec15	ENSG00000138190		0.299	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	316	0.00	0	G	NM_019053		94653266	94653266	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	nonsense	259	13.67	41	SNP	1.000	T
EXOC6	54536	genome.wustl.edu	37	10	94654715	94654715	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:94654715G>A	ENST00000260762.6	+	4	364	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	EXOC6_ENST00000371547.4_Missense_Mutation_p.R133Q|EXOC6_ENST00000371552.4_Missense_Mutation_p.R112Q|EXOC6_ENST00000443748.2_Missense_Mutation_p.R117Q|EXOC6_ENST00000371543.1_Missense_Mutation_p.R117Q	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	117					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GATATCATTCGATGTAGAATT	0.328																																						dbGAP											0													154.0	166.0	162.0					10																	94654715		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.350G>A	10.37:g.94654715G>A	ENSP00000260762:p.Arg117Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.R133Q	ENST00000260762.6	37	c.398	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276658	0.23307	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000371543;ENST00000443748;ENST00000260762	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.73	4.82	0.62117	.	0.116585	0.64402	N	0.000012	T	0.14830	0.0358	N	0.04705	-0.18	0.30414	N	0.778795	B;B;B;B;B	0.18461	0.027;0.016;0.028;0.013;0.013	B;B;B;B;B	0.14578	0.011;0.003;0.006;0.002;0.002	T	0.12218	-1.0556	10	0.19147	T	0.46	-4.002	11.5815	0.50894	0.1426:0.0:0.8574:0.0	.	133;117;109;117;112	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	Q	133;112;117;117;117	ENSP00000360602:R133Q;ENSP00000360607:R112Q;ENSP00000360598:R117Q;ENSP00000396206:R117Q;ENSP00000260762:R117Q	ENSP00000260762:R117Q	R	+	2	0	EXOC6	94644695	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.328000	0.59253	1.436000	0.47453	0.655000	0.94253	CGA	EXOC6	-	pirsf_Sec15	ENSG00000138190		0.328	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	898	0.00	0	G	NM_019053		94654715	94654715	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	missense	651	12.73	95	SNP	1.000	A
EXOC6	54536	genome.wustl.edu	37	10	94712044	94712044	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:94712044G>T	ENST00000260762.6	+	15	1445	c.1431G>T	c.(1429-1431)aaG>aaT	p.K477N	EXOC6_ENST00000371547.4_Missense_Mutation_p.K493N|EXOC6_ENST00000371552.4_Missense_Mutation_p.K472N|EXOC6_ENST00000443748.2_Missense_Mutation_p.K374N	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	477					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTTTCCCAAAGAAATTCCCCA	0.308																																						dbGAP											0													84.0	87.0	86.0					10																	94712044		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1431G>T	10.37:g.94712044G>T	ENSP00000260762:p.Lys477Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.K493N	ENST00000260762.6	37	c.1479	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401276	0.83120	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.7	4.78	0.61160	.	0.136013	0.64402	N	0.000004	T	0.59155	0.2173	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.76494	0.978;0.999;0.979;0.979;0.979;0.99	P;D;P;P;P;D	0.75020	0.71;0.985;0.821;0.875;0.875;0.936	T	0.66838	-0.5822	10	0.72032	D	0.01	-13.6944	15.9433	0.79773	0.0:0.0:0.864:0.136	.	493;374;469;430;477;472	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	N	493;472;374;477	ENSP00000360602:K493N;ENSP00000360607:K472N;ENSP00000396206:K374N;ENSP00000260762:K477N	ENSP00000260762:K477N	K	+	3	2	EXOC6	94702024	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.639000	0.67868	1.362000	0.46000	0.650000	0.86243	AAG	EXOC6	-	pfam_Sec15,pirsf_Sec15	ENSG00000138190		0.308	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	219	0.00	0	G	NM_019053		94712044	94712044	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	missense	173	10.36	20	SNP	1.000	T
EXOSC9	5393	genome.wustl.edu	37	4	122732758	122732758	+	Silent	SNP	C	C	T	rs529702587		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:122732758C>T	ENST00000243498.5	+	8	867	c.759C>T	c.(757-759)atC>atT	p.I253I	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000512454.1_Silent_p.I237I|EXOSC9_ENST00000379663.3_Silent_p.I253I	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	253	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GCAGTAAAATCGCTGGTGTGA	0.308																																						dbGAP											0													50.0	53.0	52.0					4																	122732758		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.759C>T	4.37:g.122732758C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2	p.R89C	ENST00000243498.5	37	c.265	CCDS3722.2	4	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104810	0.20632	.	.	ENSG00000123737	ENST00000511132	.	.	.	5.82	0.15	0.14883	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52563	-0.8559	4	.	.	.	-8.6267	10.2022	0.43092	0.5574:0.3442:0.0:0.0984	.	.	.	.	C	89	.	.	R	+	1	0	EXOSC9	122952208	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.558000	0.36309	0.124000	0.18369	-1.072000	0.02254	CGC	EXOSC9	-	pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2	ENSG00000123737		0.308	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	192	0.00	0	C	NM_005033		122732758	122732758	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511132	ensembl	human	putative	69_37n	missense	116	17.14	24	SNP	1.000	T
EXT2	2132	genome.wustl.edu	37	11	44257853	44257853	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:44257853G>A	ENST00000343631.3	+	13	2075	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	EXT2_ENST00000395673.3_Missense_Mutation_p.R682Q|EXT2_ENST00000533608.1_Missense_Mutation_p.R649Q|EXT2_ENST00000358681.4_Missense_Mutation_p.R659Q			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	649					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTAACCCCACGAAAGAAATTC	0.473			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													dbGAP	yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													121.0	105.0	110.0					11																	44257853		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1946G>A	11.37:g.44257853G>A	ENSP00000342656:p.Arg649Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R682Q	ENST00000343631.3	37	c.2045	CCDS7908.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.090214	0.94149	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.39	5.39	0.77823	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.994;0.989;0.994;0.994	D	0.91670	0.5349	10	0.66056	D	0.02	-2.446	19.1432	0.93452	0.0:0.0:1.0:0.0	.	649;659;659;649;662	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	Q	649;659;682;649	ENSP00000431173:R649Q;ENSP00000351509:R659Q;ENSP00000379032:R682Q;ENSP00000342656:R649Q	ENSP00000342656:R649Q	R	+	2	0	EXT2	44214429	1.000000	0.71417	0.427000	0.26684	0.994000	0.84299	9.869000	0.99810	2.519000	0.84933	0.655000	0.94253	CGA	EXT2	-	pfam_HexNAc_Trfase_a	ENSG00000151348		0.473	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXT2	HGNC	protein_coding	OTTHUMT00000390074.1	226	0.00	0	G	NM_000401		44257853	44257853	+1	no_errors	ENST00000395673	ensembl	human	known	69_37n	missense	141	10.76	17	SNP	0.861	A
EXPH5	23086	genome.wustl.edu	37	11	108385508	108385508	+	Silent	SNP	G	G	A	rs116742815	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:108385508G>A	ENST00000265843.4	-	6	836	c.726C>T	c.(724-726)ttC>ttT	p.F242F	EXPH5_ENST00000525344.1_Silent_p.F235F|EXPH5_ENST00000443411.1_Silent_p.F54F|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.F166F	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	242					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.F242F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAAAGTGACCGAACTGTGTTC	0.383																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											156.0	141.0	146.0					11																	108385508		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.726C>T	11.37:g.108385508G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.F242	ENST00000265843.4	37	c.726	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	179	0.00	0	G	NM_015065		108385508	108385508	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	silent	126	29.21	52	SNP	0.372	A
EXTL2	2135	genome.wustl.edu	37	1	101343416	101343416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:101343416G>A	ENST00000370114.3	-	3	1485	c.49C>T	c.(49-51)Cga>Tga	p.R17*	EXTL2_ENST00000535414.1_Nonsense_Mutation_p.R4*|EXTL2_ENST00000370113.3_Nonsense_Mutation_p.R17*	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	17					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CGAAGCACTCGAATCCCCATT	0.433																																						dbGAP											0													63.0	51.0	55.0					1																	101343416		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.49C>T	1.37:g.101343416G>A	ENSP00000359132:p.Arg17*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R795|D3DT60	Nonsense_Mutation	SNP	pfam_HexNAc_Trfase_a	p.R17*	ENST00000370114.3	37	c.49	CCDS775.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237213	0.79800	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414;ENST00000450240;ENST00000416479	.	.	.	5.51	3.57	0.40892	.	0.136031	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1477	13.598	0.62002	0.0:0.0:0.5914:0.4086	.	.	.	.	X	17;17;4;25;4	.	ENSP00000359131:R17X	R	-	1	2	EXTL2	101116004	0.996000	0.38824	0.199000	0.23439	0.282000	0.26991	2.731000	0.47343	0.747000	0.32809	-0.181000	0.13052	CGA	EXTL2	-	NULL	ENSG00000162694		0.433	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL2	HGNC	protein_coding	OTTHUMT00000032705.1	140	0.00	0	G	NM_001439		101343416	101343416	-1	no_errors	ENST00000370113	ensembl	human	known	69_37n	nonsense	85	15.00	15	SNP	0.710	A
EXTL3	2137	genome.wustl.edu	37	8	28574666	28574666	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:28574666G>A	ENST00000220562.4	+	3	1992	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	364					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCGCTCCTTCGAAGAGGAAAT	0.587																																						dbGAP											0													53.0	48.0	50.0					8																	28574666		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1090G>A	8.37:g.28574666G>A	ENSP00000220562:p.Glu364Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.E364K	ENST00000220562.4	37	c.1090	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	G	16.73	3.202925	0.58234	.	.	ENSG00000012232	ENST00000220562	D	0.95205	-3.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.91945	0.7449	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	P	0.55222	0.771	D	0.90888	0.4759	9	.	.	.	-20.5147	19.6941	0.96016	0.0:0.0:1.0:0.0	.	364	O43909	EXTL3_HUMAN	K	364	ENSP00000220562:E364K	.	E	+	1	0	EXTL3	28630585	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.657000	0.98554	2.885000	0.99019	0.655000	0.94253	GAA	EXTL3	-	pfam_Exostosin	ENSG00000012232		0.587	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	119	0.00	0	G	NM_001440		28574666	28574666	+1	no_errors	ENST00000220562	ensembl	human	known	69_37n	missense	58	25.64	20	SNP	1.000	A
EYA3	2140	genome.wustl.edu	37	1	28337448	28337448	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:28337448C>A	ENST00000373871.3	-	10	1150				EYA3_ENST00000436342.2_Intron|EYA3_ENST00000540618.1_Intron|EYA3_ENST00000545175.1_Intron|EYA3_ENST00000471498.1_Intron|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000373863.3_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3						anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAATCAGTTTCTTCTCATACT	0.388																																						dbGAP											0													110.0	99.0	103.0					1																	28337448		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.909+9G>T	1.37:g.28337448C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	RNA	SNP	-	NULL	ENST00000373871.3	37	NULL	CCDS316.1	1																																																																																			EYA3	-	-	ENSG00000158161		0.388	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	174	0.00	0	C	NM_001990		28337448	28337448	-1	no_errors	ENST00000468665	ensembl	human	known	69_37n	rna	114	20.83	30	SNP	0.002	A
EYA4	2070	genome.wustl.edu	37	6	133802608	133802608	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:133802608C>T	ENST00000367895.5	+	12	1442	c.978C>T	c.(976-978)ttC>ttT	p.F326F	EYA4_ENST00000452339.2_Silent_p.F272F|EYA4_ENST00000531901.1_Silent_p.F332F|EYA4_ENST00000355286.6_Silent_p.F303F|EYA4_ENST00000525849.1_Silent_p.F303F|EYA4_ENST00000431403.2_Silent_p.F326F|EYA4_ENST00000355167.3_Silent_p.F326F|EYA4_ENST00000430974.2_Silent_p.F278F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	326					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAGGAGAGTTCGATACCATGC	0.383																																					Melanoma(57;398 1237 3528 4702 7415)	dbGAP											0													112.0	116.0	114.0					6																	133802608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.978C>T	6.37:g.133802608C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.F326	ENST00000367895.5	37	c.978	CCDS5165.1	6																																																																																			EYA4	-	NULL	ENSG00000112319		0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	338	0.00	0	C	NM_004100		133802608	133802608	+1	no_errors	ENST00000355167	ensembl	human	known	69_37n	silent	165	27.63	63	SNP	1.000	T
EYS	346007	genome.wustl.edu	37	6	65146121	65146121	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:65146121C>A	ENST00000370621.3	-	28	6399	c.5873G>T	c.(5872-5874)aGc>aTc	p.S1958I	EYS_ENST00000370616.2_Missense_Mutation_p.S1958I|EYS_ENST00000503581.1_Missense_Mutation_p.S1958I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1958	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						AGTATTAATGCTTTTAAATTT	0.323																																						dbGAP											0													193.0	153.0	165.0					6																	65146121		692	1588	2280	-	-	-	SO:0001583	missense	0				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.5873G>T	6.37:g.65146121C>A	ENSP00000359655:p.Ser1958Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1958I	ENST00000370621.3	37	c.5873		6	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373546	0.24857	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.77750	-1.12;-1.12;-1.12	5.34	-1.6	0.08426	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.30510	0.0767	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.01;0.012	B;B	0.17433	0.01;0.018	T	0.19647	-1.0299	9	0.56958	D	0.05	.	0.9483	0.01370	0.2349:0.3139:0.1084:0.3428	.	1958;1958	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	I	1958	ENSP00000424243:S1958I;ENSP00000359655:S1958I;ENSP00000359650:S1958I	ENSP00000359650:S1958I	S	-	2	0	EYS	65202842	0.786000	0.28738	0.000000	0.03702	0.002000	0.02628	-0.386000	0.07370	-0.036000	0.13669	0.655000	0.94253	AGC	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.323	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	284	0.00	0	C	XM_294050		65146121	65146121	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	163	21.63	45	SNP	0.000	A
EYS	346007	genome.wustl.edu	37	6	65300259	65300259	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:65300259G>T	ENST00000370621.3	-	26	6027	c.5501C>A	c.(5500-5502)tCt>tAt	p.S1834Y	EYS_ENST00000370616.2_Missense_Mutation_p.S1834Y|EYS_ENST00000503581.1_Missense_Mutation_p.S1834Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1834					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						CCATTCTGAAGAAGTCTTGAC	0.418																																						dbGAP											0													119.0	108.0	111.0					6																	65300259		692	1591	2283	-	-	-	SO:0001583	missense	0				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.5501C>A	6.37:g.65300259G>T	ENSP00000359655:p.Ser1834Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1834Y	ENST00000370621.3	37	c.5501		6	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.606551	0.00007	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84516	-1.86;-1.84;-1.84	6.17	2.33	0.28932	.	.	.	.	.	T	0.45657	0.1353	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.37314	-0.9711	9	0.20046	T	0.44	.	6.7121	0.23282	0.2825:0.0:0.5995:0.118	.	1834;1834	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	Y	1834	ENSP00000424243:S1834Y;ENSP00000359655:S1834Y;ENSP00000359650:S1834Y	ENSP00000359650:S1834Y	S	-	2	0	EYS	65356980	0.000000	0.05858	0.015000	0.15790	0.008000	0.06430	0.258000	0.18387	-0.052000	0.13311	-0.808000	0.03180	TCT	EYS	-	NULL	ENSG00000188107		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	244	0.41	1	G	XM_294050		65300259	65300259	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	143	15.38	26	SNP	0.000	T
EYA4	2070	genome.wustl.edu	37	6	133844248	133844248	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:133844248G>A	ENST00000367895.5	+	18	2135	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	EYA4_ENST00000452339.2_Silent_p.A503A|EYA4_ENST00000531901.1_Silent_p.A563A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Silent_p.A534A|EYA4_ENST00000525849.1_Silent_p.A534A|EYA4_ENST00000431403.2_Silent_p.A557A|EYA4_ENST00000355167.3_Silent_p.A557A|EYA4_ENST00000430974.2_Silent_p.A509A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	557					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCACTTGCGAAGGTTCTAC	0.343																																					Melanoma(57;398 1237 3528 4702 7415)	dbGAP											0													122.0	119.0	120.0					6																	133844248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1671G>A	6.37:g.133844248G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.A557	ENST00000367895.5	37	c.1671	CCDS5165.1	6																																																																																			EYA4	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000112319		0.343	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	357	0.00	0	G	NM_004100		133844248	133844248	+1	no_errors	ENST00000355167	ensembl	human	known	69_37n	silent	243	11.31	31	SNP	0.983	A
EZH1	2145	genome.wustl.edu	37	17	40880881	40880881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:40880881G>A	ENST00000428826.2	-	3	200	c.79C>T	c.(79-81)Cga>Tga	p.R27*	EZH1_ENST00000590078.1_Intron|EZH1_ENST00000592743.1_Nonsense_Mutation_p.R27*|EZH1_ENST00000435174.1_5'UTR|EZH1_ENST00000585893.1_Nonsense_Mutation_p.R27*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.R27*			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	27					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTAAGTTGTCGAAGTCGCATG	0.373																																						dbGAP											0													152.0	150.0	150.0					17																	40880881		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.79C>T	17.37:g.40880881G>A	ENSP00000404658:p.Arg27*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.R27*	ENST00000428826.2	37	c.79	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.709275	0.96821	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827	.	.	.	4.94	3.97	0.46021	.	0.112515	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.555	0.61756	0.0766:0.0:0.9234:0.0	.	.	.	.	X	30;27;27	.	ENSP00000264646:R30X	R	-	1	2	EZH1	38134407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.865000	0.69583	1.442000	0.47568	0.544000	0.68410	CGA	EZH1	-	NULL	ENSG00000108799		0.373	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	148	0.00	0	G	NM_001991		40880881	40880881	-1	no_errors	ENST00000428826	ensembl	human	known	69_37n	nonsense	113	13.74	18	SNP	1.000	A
F10	2159	genome.wustl.edu	37	13	113792779	113792779	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:113792779C>A	ENST00000375559.3	+	3	278	c.240C>A	c.(238-240)ttC>ttA	p.F80L	F10_ENST00000375551.3_Missense_Mutation_p.F80L|F10_ENST00000409306.1_Missense_Mutation_p.F80L	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	80	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AGAATGAATTCTGGAATAAAT	0.279																																						dbGAP											0													53.0	60.0	58.0					13																	113792779		2200	4287	6487	-	-	-	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.240C>A	13.37:g.113792779C>A	ENSP00000364709:p.Phe80Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.F80L	ENST00000375559.3	37	c.240	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103110	0.56183	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.99563	-6.17;-6.17;-6.17	5.29	4.44	0.53790	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.111334	0.64402	D	0.000009	D	0.99591	0.9852	M	0.93420	3.415	0.41927	D	0.990541	D;D;D	0.61080	0.987;0.987;0.989	P;P;D	0.64595	0.849;0.849;0.927	D	0.98391	1.0563	10	0.87932	D	0	.	8.8763	0.35348	0.0:0.9014:0.0:0.0986	.	80;80;80	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	L	80	ENSP00000387092:F80L;ENSP00000364701:F80L;ENSP00000364709:F80L	ENSP00000364701:F80L	F	+	3	2	F10	112840780	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.221000	0.42917	2.489000	0.83994	0.655000	0.94253	TTC	F10	-	pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	ENSG00000126218		0.279	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	163	0.00	0	C			113792779	113792779	+1	no_errors	ENST00000375559	ensembl	human	known	69_37n	missense	96	19.33	23	SNP	1.000	A
F13A1	2162	genome.wustl.edu	37	6	6248583	6248583	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:6248583C>T	ENST00000264870.3	-	6	1025	c.760G>A	c.(760-762)Ggg>Agg	p.G254R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	254					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGGATTCCCTCTTCCAGAG	0.433																																						dbGAP											0													98.0	88.0	91.0					6																	6248583		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.760G>A	6.37:g.6248583C>T	ENSP00000264870:p.Gly254Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G254R	ENST00000264870.3	37	c.760	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337456	0.81911	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.92647	-3.08	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.60904	1.88	0.80722	D	1	D;D	0.76494	0.965;0.999	P;P	0.61874	0.814;0.895	D	0.94115	0.7374	10	0.62326	D	0.03	.	17.5602	0.87903	0.0:1.0:0.0:0.0	.	191;254	F5H080;P00488	.;F13A_HUMAN	R	254;191	ENSP00000264870:G254R	ENSP00000264870:G254R	G	-	1	0	F13A1	6193582	0.972000	0.33761	1.000000	0.80357	0.908000	0.53690	2.437000	0.44828	2.369000	0.80426	0.655000	0.94253	GGG	F13A1	-	NULL	ENSG00000124491		0.433	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	172	0.00	0	C	NM_000129		6248583	6248583	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	missense	147	19.67	36	SNP	1.000	T
F2RL1	2150	genome.wustl.edu	37	5	76128740	76128740	+	Missense_Mutation	SNP	G	G	A	rs185549069		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:76128740G>A	ENST00000296677.4	+	2	514	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	103					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TTTCTTTTCCGAACTAAGAAG	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20348	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													206.0	203.0	204.0					5																	76128740		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.308G>A	5.37:g.76128740G>A	ENSP00000296677:p.Arg103Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.R103Q	ENST00000296677.4	37	c.308	CCDS4033.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	26.4	4.734187	0.89482	.	.	ENSG00000164251	ENST00000514165;ENST00000296677	T;T	0.71461	-0.57;-0.57	5.75	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.052018	0.85682	N	0.000000	T	0.81837	0.4907	M	0.64170	1.965	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.83458	0.0052	10	0.62326	D	0.03	-6.7636	14.759	0.69590	0.0694:0.0:0.9305:0.0	.	103	P55085	PAR2_HUMAN	Q	9;103	ENSP00000425622:R9Q;ENSP00000296677:R103Q	ENSP00000296677:R103Q	R	+	2	0	F2RL1	76164496	1.000000	0.71417	0.904000	0.35570	0.983000	0.72400	7.971000	0.88012	1.435000	0.47434	0.655000	0.94253	CGA	F2RL1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164251		0.478	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL1	HGNC	protein_coding	OTTHUMT00000219957.2	130	0.00	0	G			76128740	76128740	+1	no_errors	ENST00000296677	ensembl	human	known	69_37n	missense	124	14.38	21	SNP	1.000	A
F5	2153	genome.wustl.edu	37	1	169511442	169511442	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169511442A>G	ENST00000367797.3	-	13	3087	c.2886T>C	c.(2884-2886)acT>acC	p.T962T	F5_ENST00000367796.3_Silent_p.T967T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	962	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTCTTCATCAGTATCTTGGA	0.443																																						dbGAP											0													99.0	101.0	101.0					1																	169511442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2886T>C	1.37:g.169511442A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T967	ENST00000367797.3	37	c.2901	CCDS1281.1	1																																																																																			F5	-	NULL	ENSG00000198734		0.443	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	338	0.00	0	A	NM_000130		169511442	169511442	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	silent	224	20.35	58	SNP	0.010	G
F5	2153	genome.wustl.edu	37	1	169512226	169512226	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169512226G>A	ENST00000367797.3	-	13	2303	c.2102C>T	c.(2101-2103)tCt>tTt	p.S701F	F5_ENST00000367796.3_Missense_Mutation_p.S706F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	701	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CATGACTGTAGATTCTGGAGG	0.408																																						dbGAP											0													207.0	202.0	204.0					1																	169512226		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2102C>T	1.37:g.169512226G>A	ENSP00000356771:p.Ser701Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S706F	ENST00000367797.3	37	c.2117	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668191	0.47677	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98221	-4.8;-4.8	5.98	2.84	0.33178	.	2.697220	0.00812	N	0.001510	D	0.93067	0.7793	L	0.38175	1.15	0.23653	N	0.997192	B	0.10296	0.003	B	0.06405	0.002	D	0.85324	0.1086	9	0.59425	D	0.04	-0.754	7.147	0.25589	0.1506:0.0:0.6268:0.2226	.	701	P12259	FA5_HUMAN	F	701;706	ENSP00000356771:S701F;ENSP00000356770:S706F	ENSP00000356770:S706F	S	-	2	0	F5	167778850	0.051000	0.20477	0.002000	0.10522	0.002000	0.02628	2.133000	0.42093	0.881000	0.35993	-0.469000	0.05056	TCT	F5	-	NULL	ENSG00000198734		0.408	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	424	0.00	0	G	NM_000130		169512226	169512226	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	280	13.54	44	SNP	0.000	A
F7	2155	genome.wustl.edu	37	13	113768082	113768082	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:113768082C>A	ENST00000375581.3	+	4	343	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	F7_ENST00000346342.3_Missense_Mutation_p.S81Y|F7_ENST00000541084.1_Intron|F7_ENST00000473085.1_3'UTR	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	103	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TTCTGGATTTCTTACAGTGGT	0.542																																						dbGAP											0													196.0	146.0	163.0					13																	113768082		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.308C>A	13.37:g.113768082C>A	ENSP00000364731:p.Ser103Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.S103Y	ENST00000375581.3	37	c.308	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	C	0.060	-1.226824	0.01518	.	.	ENSG00000057593	ENST00000346342;ENST00000375581	D;D	0.99176	-5.52;-5.52	4.58	0.866	0.19079	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	1.641880	0.03181	N	0.172049	D	0.96667	0.8912	L	0.51914	1.62	0.09310	N	1	B;B	0.22211	0.013;0.066	B;B	0.20184	0.016;0.028	D	0.91138	0.4943	10	0.02654	T	1	.	4.561	0.12160	0.1993:0.4629:0.0:0.3378	.	81;103	P08709-2;P08709	.;FA7_HUMAN	Y	81;103	ENSP00000329546:S81Y;ENSP00000364731:S103Y	ENSP00000329546:S81Y	S	+	2	0	F7	112816083	0.000000	0.05858	0.000000	0.03702	0.289000	0.27227	0.754000	0.26390	0.311000	0.23014	0.591000	0.81541	TCT	F7	-	pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	ENSG00000057593		0.542	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	43	0.00	0	C	NM_000131		113768082	113768082	+1	no_errors	ENST00000375581	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.000	A
F8	2157	genome.wustl.edu	37	X	154132579	154132579	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:154132579C>T	ENST00000360256.4	-	17	6007	c.5807G>A	c.(5806-5808)cGc>cAc	p.R1936H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1936	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACCATGGAAGCGATAATTCTC	0.388																																						dbGAP											0													174.0	175.0	175.0					X																	154132579		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5807G>A	X.37:g.154132579C>T	ENSP00000353393:p.Arg1936His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1936H	ENST00000360256.4	37	c.5807	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635927	0.47049	.	.	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	4.23	3.35	0.38373	Cupredoxin (2);	0.547719	0.20383	N	0.093413	D	0.98115	0.9378	L	0.51914	1.62	0.21697	N	0.99958	D;D	0.69078	0.993;0.997	P;P	0.61201	0.51;0.885	D	0.94316	0.7549	10	0.66056	D	0.02	-3.3576	8.7762	0.34762	0.1672:0.6728:0.1599:0.0	.	64;1936	Q2VF45;P00451	.;FA8_HUMAN	H	1936	ENSP00000353393:R1936H	ENSP00000353393:R1936H	R	-	2	0	F8	153785773	0.992000	0.36948	0.867000	0.34043	0.972000	0.66771	0.609000	0.24238	0.882000	0.36016	0.476000	0.43555	CGC	F8	-	superfamily_Cupredoxin	ENSG00000185010		0.388	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	266	0.00	0	C			154132579	154132579	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	162	32.23	78	SNP	0.402	T
F8	2157	genome.wustl.edu	37	X	154133101	154133101	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:154133101G>T	ENST00000360256.4	-	16	5771	c.5571C>A	c.(5569-5571)ttC>ttA	p.F1857L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1857	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAACATCAGAGAAATAAGCCC	0.378																																						dbGAP											0													109.0	89.0	96.0					X																	154133101		2203	4300	6503	-	-	-	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5571C>A	X.37:g.154133101G>T	ENSP00000353393:p.Phe1857Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F1857L	ENST00000360256.4	37	c.5571	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876746	0.51801	.	.	ENSG00000185010	ENST00000360256	D	0.98862	-5.19	4.91	2.95	0.34219	Cupredoxin (2);	0.333100	0.34338	N	0.004046	D	0.96125	0.8737	N	0.25094	0.71	0.36117	D	0.845183	P	0.45634	0.863	P	0.50617	0.646	D	0.93479	0.6826	10	0.31617	T	0.26	-16.783	4.012	0.09627	0.2306:0.0:0.5854:0.184	.	1857	P00451	FA8_HUMAN	L	1857	ENSP00000353393:F1857L	ENSP00000353393:F1857L	F	-	3	2	F8	153786295	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.453000	0.44970	0.304000	0.22809	-0.322000	0.08575	TTC	F8	-	superfamily_Cupredoxin	ENSG00000185010		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	277	0.36	1	G			154133101	154133101	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	missense	210	18.29	47	SNP	1.000	T
F8	2157	genome.wustl.edu	37	X	154156922	154156922	+	Nonsense_Mutation	SNP	G	G	A	rs137852439		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:154156922G>A	ENST00000360256.4	-	14	5343	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild). {ECO:0000269|PubMed:1349567, ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.R1715*(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAATAGTGTCGTGTTTTCTTT	0.398																																						dbGAP											2	Substitution - Nonsense(2)	ovary(2)	GRCh37	CM900094|CM920258	F8	M	rs137852439						73.0	63.0	67.0					X																	154156922		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5143C>T	X.37:g.154156922G>A	ENSP00000353393:p.Arg1715*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1715*	ENST00000360256.4	37	c.5143	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	G	47	12.971596	0.99710	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.01	4.11	0.48088	.	0.303929	0.32147	N	0.006514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3121	9.6412	0.39839	0.0:0.0:0.7916:0.2084	.	.	.	.	X	1715	.	ENSP00000353393:R1715X	R	-	1	2	F8	153810116	1.000000	0.71417	0.820000	0.32676	0.984000	0.73092	3.491000	0.53252	0.838000	0.34948	0.544000	0.68410	CGA	F8	-	superfamily_Cupredoxin	ENSG00000185010		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	396	0.00	0	G			154156922	154156922	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	nonsense	281	13.76	45	SNP	0.592	A
FABP12	646486	genome.wustl.edu	37	8	82439299	82439299	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:82439299C>T	ENST00000360464.4	-	3	366	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	102							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						ATGGTGGTTTCTTTGCCATCC	0.413																																						dbGAP											0													93.0	86.0	88.0					8																	82439299		1909	4137	6046	-	-	-	SO:0001583	missense	0				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.304G>A	8.37:g.82439299C>T	ENSP00000353650:p.Glu102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7SUN0	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.E102K	ENST00000360464.4	37	c.304	CCDS47882.1	8	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015222	0.54468	.	.	ENSG00000197416	ENST00000360464	T	0.44482	0.92	5.18	2.37	0.29283	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.127788	0.51477	D	0.000092	T	0.36386	0.0965	L	0.49455	1.56	0.48696	D	0.999698	B	0.25169	0.119	B	0.32393	0.145	T	0.25779	-1.0122	10	0.62326	D	0.03	.	7.1177	0.25427	0.0:0.6635:0.1235:0.213	.	102	A6NFH5	FBP12_HUMAN	K	102	ENSP00000353650:E102K	ENSP00000353650:E102K	E	-	1	0	FABP12	82601854	0.937000	0.31787	0.509000	0.27700	0.781000	0.44180	1.723000	0.38053	0.764000	0.33197	0.655000	0.94253	GAA	FABP12	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000197416		0.413	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP12	HGNC	protein_coding	OTTHUMT00000379720.1	350	0.00	0	C	NM_001105281		82439299	82439299	-1	no_errors	ENST00000360464	ensembl	human	known	69_37n	missense	162	25.35	55	SNP	0.996	T
FADS1	3992	genome.wustl.edu	37	11	61569894	61569894	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:61569894G>T	ENST00000350997.7	-	12	1727	c.1495C>A	c.(1495-1497)Ctt>Att	p.L499I	FADS1_ENST00000542506.1_Missense_Mutation_p.L358I|FADS1_ENST00000536991.1_Missense_Mutation_p.L190I|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Missense_Mutation_p.L358I|FADS1_ENST00000460649.1_Missense_Mutation_p.L144I	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	442					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TATTGGTGAAGATAGGCATCT	0.547																																						dbGAP											0													42.0	42.0	42.0					11																	61569894		2048	4197	6245	-	-	-	SO:0001583	missense	0				CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1495C>A	11.37:g.61569894G>T	ENSP00000322229:p.Leu499Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5,prints_Cyt_B5	p.L499I	ENST00000350997.7	37	c.1495	CCDS8011.2	11	.	.	.	.	.	.	.	.	.	.	G	32	5.164374	0.94727	.	.	ENSG00000149485	ENST00000543488;ENST00000350997;ENST00000412725;ENST00000536991;ENST00000433932;ENST00000460649;ENST00000542506	T;T;T;T	0.61627	0.09;0.68;1.77;1.77	5.21	5.21	0.72293	.	0.000000	0.43919	U	0.000519	T	0.68961	0.3058	M	0.85197	2.74	0.58432	D	0.999995	D	0.58268	0.982	P	0.46144	0.505	T	0.77343	-0.2623	10	0.87932	D	0	-16.2483	18.7398	0.91769	0.0:0.0:1.0:0.0	.	442	O60427	FADS1_HUMAN	I	374;499;358;190;358;144;358	ENSP00000322229:L499I;ENSP00000439097:L190I;ENSP00000405087:L358I;ENSP00000441403:L358I	ENSP00000322229:L499I	L	-	1	0	FADS1	61326470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.773000	0.91762	2.616000	0.88540	0.655000	0.94253	CTT	FADS1	-	pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000149485		0.547	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS1	HGNC	protein_coding	OTTHUMT00000347648.2	154	0.00	0	G	NM_013402		61569894	61569894	-1	no_errors	ENST00000350997	ensembl	human	known	69_37n	missense	108	10.00	12	SNP	1.000	T
FAF1	11124	genome.wustl.edu	37	1	51253875	51253875	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:51253875T>G	ENST00000396153.2	-	4	615	c.164A>C	c.(163-165)gAa>gCa	p.E55A	FAF1_ENST00000371778.4_Missense_Mutation_p.E55A	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	55	UBA.				apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		ACCTCCATATTCACTAAAATG	0.408																																						dbGAP											3	Whole gene deletion(3)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)											54.0	54.0	54.0					1																	51253875		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.164A>C	1.37:g.51253875T>G	ENSP00000379457:p.Glu55Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E55A	ENST00000396153.2	37	c.164	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350105	0.61183	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000371780;ENST00000543607	.	.	.	5.96	4.82	0.62117	.	0.605641	0.18657	N	0.134833	T	0.53254	0.1785	L	0.38175	1.15	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.45366	-0.9266	9	0.42905	T	0.14	-2.3554	13.3293	0.60477	0.0:0.0:0.1319:0.8681	.	55	Q9UNN5	FAF1_HUMAN	A	55;55;47;55	.	ENSP00000360843:E55A	E	-	2	0	FAF1	51026463	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.505000	0.66981	1.054000	0.40438	0.533000	0.62120	GAA	FAF1	-	NULL	ENSG00000185104		0.408	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	387	0.00	0	T	NM_007051		51253875	51253875	-1	no_errors	ENST00000371778	ensembl	human	known	69_37n	missense	204	16.73	41	SNP	1.000	G
FAIM3	9214	genome.wustl.edu	37	1	207078237	207078237	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207078237C>T	ENST00000367091.3	-	0	1443				FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3						cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GGATGGGAGTCGAGATGGGGC	0.562																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.*127G>A	1.37:g.207078237C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7J2|B7Z6Z0|D9MWM3	RNA	SNP	-	NULL	ENST00000367091.3	37	NULL	CCDS1473.1	1																																																																																			FAIM3	-	-	ENSG00000162894		0.562	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	27	0.00	0	C	NM_005449		207078237	207078237	-1	no_errors	ENST00000528654	ensembl	human	known	69_37n	rna	22	21.43	6	SNP	0.000	T
FAM107A	11170	genome.wustl.edu	37	3	58555591	58555591	+	5'UTR	SNP	G	G	A	rs11539090		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:58555591G>A	ENST00000394481.1	-	0	555				FAM107A_ENST00000474531.1_Splice_Site_p.A30A|FAM107A_ENST00000464064.1_5'UTR|RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000360997.2_5'UTR|FAM107A_ENST00000447756.2_Splice_Site_p.A27A	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A						regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AGTACATGGCGGCTGTAGAGA	0.567																																						dbGAP											0													56.0	59.0	58.0					3																	58555591		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.-4C>T	3.37:g.58555591G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	pfam_DUF1151	p.A30	ENST00000394481.1	37	c.90	CCDS2892.1	3																																																																																			FAM107A	-	NULL	ENSG00000168309		0.567	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM107A	HGNC	protein_coding	OTTHUMT00000353585.1	94	0.00	0	G	NM_007177		58555591	58555591	-1	no_errors	ENST00000474531	ensembl	human	putative	69_37n	silent	68	20.00	17	SNP	0.783	A
FAM111A	63901	genome.wustl.edu	37	11	58920169	58920169	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:58920169C>T	ENST00000528737.1	+	5	3846	c.1028C>T	c.(1027-1029)tCg>tTg	p.S343L	FAM111A_ENST00000420244.1_Missense_Mutation_p.S343L|FAM111A_ENST00000531147.1_Missense_Mutation_p.S343L|FAM111A_ENST00000361723.3_Missense_Mutation_p.S343L|FAM111A_ENST00000533703.1_Missense_Mutation_p.S343L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	343	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATTCTTCTTCGATTAAAGTA	0.343																																						dbGAP											0													62.0	68.0	66.0					11																	58920169		2200	4294	6494	-	-	-	SO:0001583	missense	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1028C>T	11.37:g.58920169C>T	ENSP00000434435:p.Ser343Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.S343L	ENST00000528737.1	37	c.1028	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850801	0.32699	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.73	-3.85	0.04243	Peptidase cysteine/serine, trypsin-like (1);	0.763485	0.12149	N	0.495063	T	0.23210	0.0561	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19778	-1.0295	10	0.27082	T	0.32	-17.5897	0.9299	0.01333	0.2255:0.3264:0.1101:0.3379	.	343	Q96PZ2	F111A_HUMAN	L	343	ENSP00000434435:S343L;ENSP00000406683:S343L;ENSP00000355264:S343L;ENSP00000433154:S343L;ENSP00000431631:S343L	ENSP00000355264:S343L	S	+	2	0	FAM111A	58676745	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.617000	0.05584	-0.553000	0.06158	0.655000	0.94253	TCG	FAM111A	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000166801		0.343	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	105	0.94	1	C	NM_022074		58920169	58920169	+1	no_errors	ENST00000361723	ensembl	human	known	69_37n	missense	86	18.10	19	SNP	0.000	T
DENND6A	201627	genome.wustl.edu	37	3	57616472	57616472	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:57616472C>A	ENST00000311128.5	-	17	1557	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	496					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCCTTTTATTCTAGAGGTTAG	0.358																																						dbGAP											0													93.0	91.0	91.0					3																	57616472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1487G>T	3.37:g.57616472C>A	ENSP00000311401:p.Arg496Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	p.R496I	ENST00000311128.5	37	c.1487	CCDS33773.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.61|15.61	2.884568|2.884568	0.51908|0.51908	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.170802|.	0.64402|.	D|.	0.000004|.	T|.	0.45975|.	0.1369|.	N|N	0.25890|0.25890	0.77|0.77	0.45822|0.45822	D|D	0.998695|0.998695	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.32561|.	-0.9902|.	9|.	0.35671|.	T|.	0.21|.	-13.2235|-13.2235	10.3172|10.3172	0.43745|0.43745	0.0:0.7941:0.1361:0.0699|0.0:0.7941:0.1361:0.0699	.|.	496|.	Q8IWF6|.	F116A_HUMAN|.	I|Y	496|67	.|.	ENSP00000311401:R496I|.	R|X	-|-	2|3	0|2	FAM116A|FAM116A	57591512|57591512	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.733000|3.733000	0.55029|0.55029	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	AGA|TAG	FAM116A	-	pfam_Afi1_N	ENSG00000174839		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM116A	HGNC	protein_coding	OTTHUMT00000351594.1	271	0.37	1	C	NM_152678		57616472	57616472	-1	no_errors	ENST00000311128	ensembl	human	known	69_37n	missense	172	26.18	61	SNP	1.000	A
FAM120B	84498	genome.wustl.edu	37	6	170632292	170632292	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:170632292C>A	ENST00000476287.1	+	3	1968	c.1860C>A	c.(1858-1860)ttC>ttA	p.F620L	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.F643L|FAM120B_ENST00000540480.1_Missense_Mutation_p.F632L	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	620					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCCAGGCCTTCATTTACCGTC	0.488																																						dbGAP											0													201.0	157.0	172.0					6																	170632292		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1860C>A	6.37:g.170632292C>A	ENSP00000417970:p.Phe620Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	NULL	p.F643L	ENST00000476287.1	37	c.1929	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	C	0.310	-0.968630	0.02232	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.33865	1.39;1.39;1.39	4.99	1.97	0.26223	.	0.326617	0.33364	N	0.004996	T	0.04318	0.0119	N	0.04959	-0.14	0.54753	D	0.99998	B;B	0.25105	0.118;0.118	B;B	0.22880	0.042;0.021	T	0.35649	-0.9780	10	0.02654	T	1	-28.0933	7.041	0.25021	0.0:0.6158:0.1376:0.2467	.	620;620	Q96EK7;F2Z2E1	F120B_HUMAN;.	L	632;643;620	ENSP00000444125:F632L;ENSP00000440125:F643L;ENSP00000417970:F620L	ENSP00000436640:F620L	F	+	3	2	FAM120B	170474217	0.742000	0.28228	0.975000	0.42487	0.356000	0.29392	0.015000	0.13355	1.193000	0.43086	0.491000	0.48974	TTC	FAM120B	-	NULL	ENSG00000112584		0.488	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	664	0.15	1	C	NM_032448		170632292	170632292	+1	no_errors	ENST00000537664	ensembl	human	known	69_37n	missense	580	13.26	89	SNP	0.539	A
FAM122A	116224	genome.wustl.edu	37	9	71395691	71395691	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:71395691G>T	ENST00000394264.3	+	1	728	c.611G>T	c.(610-612)aGa>aTa	p.R204I	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	204										endometrium(1)|lung(2)	3						CCATTGAAAAGAAAATGTGAA	0.478																																						dbGAP											0													91.0	90.0	90.0					9																	71395691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.611G>T	9.37:g.71395691G>T	ENSP00000377807:p.Arg204Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R204I	ENST00000394264.3	37	c.611	CCDS6623.1	9	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585436	0.66105	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	T	0.59502	0.26	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.72930	0.3522	M	0.73217	2.22	0.58432	D	0.999997	D	0.69078	0.997	D	0.78314	0.991	T	0.75314	-0.3361	10	0.87932	D	0	-31.5141	12.8382	0.57786	0.0:0.0:1.0:0.0	.	204	Q96E09	F122A_HUMAN	I	204;188	ENSP00000377807:R204I	ENSP00000366492:R188I	R	+	2	0	FAM122A	70585511	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.291000	0.65667	2.758000	0.94735	0.563000	0.77884	AGA	FAM122A	-	NULL	ENSG00000187866		0.478	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1	118	0.00	0	G	NM_138333		71395691	71395691	+1	no_errors	ENST00000394264	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	T
FAM122B	159090	genome.wustl.edu	37	X	133915917	133915917	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:133915917C>T	ENST00000370790.1	-	8	1461	c.533G>A	c.(532-534)aGa>aAa	p.R178K	FAM122B_ENST00000298090.6_Missense_Mutation_p.R197K|FAM122B_ENST00000486347.1_Missense_Mutation_p.R179K|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.R197K	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	178										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTGGAAGAGTCTCTTGGGCTG	0.368																																						dbGAP											0													152.0	137.0	142.0					X																	133915917		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.533G>A	X.37:g.133915917C>T	ENSP00000359826:p.Arg178Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.R197K	ENST00000370790.1	37	c.590	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967208	0.92855	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000486347	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	T	0.69548	0.3123	M	0.64676	1.99	0.53688	D	0.999976	D;D;D;D;D;D	0.76494	0.996;0.99;0.959;0.992;0.992;0.999	D;D;D;D;D;D	0.81914	0.995;0.979;0.937;0.986;0.986;0.994	T	0.65146	-0.6239	10	0.26408	T	0.33	.	17.7072	0.88312	0.0:1.0:0.0:0.0	.	145;197;126;179;178;197	B4DN12;G1UD80;Q7Z309-5;Q7Z309-2;Q7Z309;Q7Z309-3	.;.;.;.;F122B_HUMAN;.	K	178;197;197;179	ENSP00000359826:R178K;ENSP00000298090:R197K;ENSP00000339207:R197K;ENSP00000419592:R179K	ENSP00000298090:R197K	R	-	2	0	FAM122B	133743583	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.487000	0.81328	2.399000	0.81585	0.594000	0.82650	AGA	FAM122B	-	NULL	ENSG00000156504		0.368	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	369	0.27	1	C	NM_145284		133915917	133915917	-1	no_errors	ENST00000343004	ensembl	human	known	69_37n	missense	234	11.65	31	SNP	1.000	T
AMER2	219287	genome.wustl.edu	37	13	25743846	25743846	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:25743846T>G	ENST00000515384.1	-	1	2579	c.1912A>C	c.(1912-1914)Aaa>Caa	p.K638Q	AMER2_ENST00000357816.2_Missense_Mutation_p.K519Q|AMER2_ENST00000381853.3_Missense_Mutation_p.K519Q			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	638					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										ACCGGGATTTTTGTTCTGGGC	0.557																																						dbGAP											0													98.0	97.0	97.0					13																	25743846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1912A>C	13.37:g.25743846T>G	ENSP00000426528:p.Lys638Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.K638Q	ENST00000515384.1	37	c.1912	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562937	0.86335	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.33654	1.47;1.47;1.4	5.97	5.97	0.96955	.	0.051113	0.85682	D	0.000000	T	0.48333	0.1494	L	0.27053	0.805	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.50866	-0.8777	10	0.72032	D	0.01	-2.9794	15.6316	0.76912	0.0:0.0:0.0:1.0	.	638;519	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	Q	519;519;638	ENSP00000350469:K519Q;ENSP00000371277:K519Q;ENSP00000426528:K638Q	ENSP00000350469:K519Q	K	-	1	0	FAM123A	24641846	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.512000	0.60469	2.288000	0.76882	0.533000	0.62120	AAA	FAM123A	-	NULL	ENSG00000165566		0.557	AMER2-002	KNOWN	basic|CCDS	protein_coding	FAM123A	HGNC	protein_coding	OTTHUMT00000370229.1	189	0.00	0	T	NM_152704		25743846	25743846	-1	no_errors	ENST00000515384	ensembl	human	known	69_37n	missense	87	16.35	17	SNP	1.000	G
AMER3	205147	genome.wustl.edu	37	2	131519826	131519826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:131519826G>T	ENST00000423981.1	+	2	291	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.E61*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	61					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CAGTGCCCAAGAATACGACAG	0.652																																						dbGAP											0													18.0	31.0	27.0					2																	131519826		2195	4288	6483	-	-	-	SO:0001587	stop_gained	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.181G>T	2.37:g.131519826G>T	ENSP00000392700:p.Glu61*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH6	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E61*	ENST00000423981.1	37	c.181	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949960	0.53186	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	.	.	.	5.3	0.837	0.18896	.	0.673002	0.14383	N	0.323010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	3.0089	0.06038	0.3432:0.0:0.4663:0.1905	.	.	.	.	X	61	.	ENSP00000314914:E61X	E	+	1	0	FAM123C	131236296	0.582000	0.26749	0.010000	0.14722	0.063000	0.16089	2.670000	0.46833	0.318000	0.23185	0.491000	0.48974	GAA	FAM123C	-	NULL	ENSG00000178171		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	61	0.00	0	G	NM_152698		131519826	131519826	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	nonsense	24	17.24	5	SNP	0.003	T
AMER3	205147	genome.wustl.edu	37	2	131519839	131519839	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:131519839G>A	ENST00000423981.1	+	2	304	c.194G>A	c.(193-195)tGc>tAc	p.C65Y	AMER3_ENST00000321420.4_Missense_Mutation_p.C65Y	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	65					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.N67fs*106(1)									TACGACAGATGCCCCAACAAA	0.637																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)											19.0	31.0	27.0					2																	131519839		2193	4288	6481	-	-	-	SO:0001583	missense	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.194G>A	2.37:g.131519839G>A	ENSP00000392700:p.Cys65Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLH6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.C65Y	ENST00000423981.1	37	c.194	CCDS2164.1	2	.	.	.	.	.	.	.	.	.	.	G	3.646	-0.072445	0.07228	.	.	ENSG00000178171	ENST00000321420;ENST00000431758;ENST00000458606;ENST00000423981	T;T	0.46819	0.86;0.86	5.3	-0.381	0.12485	.	1.078490	0.07000	N	0.823180	T	0.24890	0.0604	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16748	-1.0392	10	0.22109	T	0.4	.	0.4659	0.00524	0.3152:0.1203:0.2923:0.2722	.	65	Q8N944	F123C_HUMAN	Y	65	ENSP00000314914:C65Y;ENSP00000392700:C65Y	ENSP00000314914:C65Y	C	+	2	0	FAM123C	131236309	0.000000	0.05858	0.000000	0.03702	0.286000	0.27126	0.555000	0.23422	-0.214000	0.10078	0.491000	0.48974	TGC	FAM123C	-	NULL	ENSG00000178171		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123C	HGNC	protein_coding	OTTHUMT00000254531.3	59	0.00	0	G	NM_152698		131519839	131519839	+1	no_errors	ENST00000321420	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.000	A
FAM126A	84668	genome.wustl.edu	37	7	23004069	23004069	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:23004069G>T	ENST00000432176.2	-	8	940	c.708C>A	c.(706-708)ttC>ttA	p.F236L	FAM126A_ENST00000409923.1_Missense_Mutation_p.F236L	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	236					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTTGCACCATGAATCCTGAAG	0.308																																						dbGAP											0													91.0	90.0	90.0					7																	23004069		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.708C>A	7.37:g.23004069G>T	ENSP00000403396:p.Phe236Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	pfam_Hyccin	p.S288*	ENST00000432176.2	37	c.863	CCDS5377.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.532200|4.532200	0.85812|0.85812	.|.	.|.	ENSG00000122591|ENSG00000122591	ENST00000432176;ENST00000409923|ENST00000440481	D;D|.	0.81739|.	-1.53;-1.53|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73055|.	0.3538|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B|.	0.31655|.	0.334|.	B|.	0.43018|.	0.405|.	T|.	0.70088|.	-0.4968|.	10|.	0.23891|.	T|.	0.37|.	-11.635|-11.635	19.3779|19.3779	0.94518|0.94518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	236|.	Q9BYI3|.	HYCCI_HUMAN|.	L|X	236|288	ENSP00000403396:F236L;ENSP00000386246:F236L|.	ENSP00000386246:F236L|.	F|S	-|-	3|2	2|0	FAM126A|FAM126A	22970594|22970594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.382000|3.382000	0.52463|0.52463	2.574000|2.574000	0.86865|0.86865	0.609000|0.609000	0.83330|0.83330	TTC|TCA	FAM126A	-	pfam_Hyccin	ENSG00000122591		0.308	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126A	HGNC	protein_coding	OTTHUMT00000250230.1	239	0.00	0	G	NM_032581		23004069	23004069	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440481	ensembl	human	putative	69_37n	nonsense	165	10.81	20	SNP	1.000	T
FAM129C	199786	genome.wustl.edu	37	19	17643087	17643087	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:17643087C>T	ENST00000335393.4	+	4	433	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	FAM129C_ENST00000599124.1_Missense_Mutation_p.R68C|FAM129C_ENST00000599164.1_Missense_Mutation_p.R68C|FAM129C_ENST00000352727.3_Missense_Mutation_p.R99C|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000300971.2_Missense_Mutation_p.R99C|FAM129C_ENST00000595684.1_Missense_Mutation_p.R99C|FAM129C_ENST00000601861.1_Missense_Mutation_p.R68C|FAM129C_ENST00000600871.1_Missense_Mutation_p.R45C|FAM129C_ENST00000332386.5_Missense_Mutation_p.R99C|FAM129C_ENST00000597887.1_3'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	99										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCCCCGAGTCCGTGAGCACCG	0.667																																						dbGAP											0													53.0	48.0	49.0					19																	17643087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.295C>T	19.37:g.17643087C>T	ENSP00000335040:p.Arg99Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.R99C	ENST00000335393.4	37	c.295	CCDS12362.1	19	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801949	0.50315	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.24350	2.15;2.16;1.86;1.86	4.13	1.73	0.24493	Pleckstrin homology domain (1);	0.717711	0.11763	N	0.531902	T	0.45538	0.1347	M	0.73962	2.25	0.18873	N	0.999984	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.14504	-1.0470	10	0.54805	T	0.06	-16.7736	5.6907	0.17827	0.2211:0.5509:0.2281:0.0	.	99;99	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	C	99;99;99;99;45	ENSP00000335040:R99C;ENSP00000333447:R99C;ENSP00000341067:R99C;ENSP00000300971:R99C	ENSP00000300971:R99C	R	+	1	0	FAM129C	17504087	0.054000	0.20591	0.565000	0.28409	0.941000	0.58515	0.750000	0.26334	0.885000	0.36088	0.491000	0.48974	CGT	FAM129C	-	smart_Pleckstrin_homology	ENSG00000167483		0.667	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	46	0.00	0	C	NM_173544		17643087	17643087	+1	no_errors	ENST00000335393	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.036	T
FAM131A	131408	genome.wustl.edu	37	3	184056252	184056252	+	5'Flank	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:184056252C>T	ENST00000310585.4	+	0	0				FAM131A_ENST00000497070.1_3'UTR|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_5'Flank|FAM131A_ENST00000383847.2_Nonsense_Mutation_p.R56*|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000450976.1_5'UTR|FAM131A_ENST00000340957.5_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGATCTGCTCGAACCCTCCG	0.637																																						dbGAP											0													74.0	75.0	74.0					3																	184056252		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184056252C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT6|G5E9B1|Q8TA84	Nonsense_Mutation	SNP	NULL	p.R56*	ENST00000310585.4	37	c.166		3	.	.	.	.	.	.	.	.	.	.	C	36	5.701414	0.96812	.	.	ENSG00000175182	ENST00000383847	.	.	.	4.48	-0.313	0.12754	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0482	0.25059	0.4395:0.4089:0.1516:0.0	.	.	.	.	X	56	.	ENSP00000373360:R56X	R	+	1	2	FAM131A	185538946	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	1.505000	0.35736	0.283000	0.22279	0.491000	0.48974	CGA	FAM131A	-	NULL	ENSG00000175182		0.637	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	260	0.00	0	C	NM_144635		184056252	184056252	+1	no_errors	ENST00000383847	ensembl	human	known	69_37n	nonsense	122	12.86	18	SNP	0.950	T
FAM131A	131408	genome.wustl.edu	37	3	184059681	184059681	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:184059681C>T	ENST00000310585.4	+	1	1424	c.60C>T	c.(58-60)tcC>tcT	p.S20S	FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000383847.2_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000450976.1_Intron|FAM131A_ENST00000340957.5_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	20						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAACTGTTTCCTGTGAGTACA	0.557																																						dbGAP											0													248.0	231.0	237.0					3																	184059681		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.60C>T	3.37:g.184059681C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNT6|G5E9B1|Q8TA84	Silent	SNP	NULL	p.S20	ENST00000310585.4	37	c.60		3																																																																																			FAM131A	-	NULL	ENSG00000175182		0.557	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	594	0.00	0	C	NM_144635		184059681	184059681	+1	no_errors	ENST00000310585	ensembl	human	known	69_37n	silent	329	25.84	115	SNP	0.077	T
FAM133A	286499	genome.wustl.edu	37	X	92964429	92964429	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:92964429G>A	ENST00000355813.5	+	4	537	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	FAM133A_ENST00000332647.4_Missense_Mutation_p.R4Q|FAM133A_ENST00000322139.4_Missense_Mutation_p.R4Q|FAM133A_ENST00000538690.1_Missense_Mutation_p.R4Q	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	4										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						ATGGGGAAGCGGGATAATCGG	0.448																																						dbGAP											0													22.0	22.0	22.0					X																	92964429		2198	4289	6487	-	-	-	SO:0001583	missense	0			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.11G>A	X.37:g.92964429G>A	ENSP00000348067:p.Arg4Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R4Q	ENST00000355813.5	37	c.11	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	11.94	1.788679	0.31685	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	3.27	2.37	0.29283	.	0.269725	0.33916	N	0.004428	T	0.38904	0.1058	M	0.75264	2.295	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.41945	-0.9480	10	0.72032	D	0.01	0.1669	6.0553	0.19809	0.1484:0.0:0.8516:0.0	.	4	Q8N9E0	F133A_HUMAN	Q	4	ENSP00000441389:R4Q;ENSP00000348067:R4Q;ENSP00000318974:R4Q;ENSP00000362169:R4Q	ENSP00000318974:R4Q	R	+	2	0	FAM133A	92851085	0.130000	0.22417	0.003000	0.11579	0.996000	0.88848	2.091000	0.41691	0.733000	0.32492	0.591000	0.81541	CGG	FAM133A	-	NULL	ENSG00000179083		0.448	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	24	0.00	0	G	NM_173698		92964429	92964429	+1	no_errors	ENST00000322139	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.003	A
FAM135A	57579	genome.wustl.edu	37	6	71234912	71234912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:71234912G>T	ENST00000418814.2	+	15	2739	c.2125G>T	c.(2125-2127)Gaa>Taa	p.E709*	FAM135A_ENST00000361499.3_Nonsense_Mutation_p.E513*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.E496*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.E496*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.E709*|FAM135A_ENST00000505769.1_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	709										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAAATCTATAGAAATAACATT	0.348																																						dbGAP											0													50.0	58.0	55.0					6																	71234912		2196	4294	6490	-	-	-	SO:0001587	stop_gained	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2125G>T	6.37:g.71234912G>T	ENSP00000410768:p.Glu709*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.E709*	ENST00000418814.2	37	c.2125	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.469142	0.96274	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	.	.	.	6.07	6.07	0.98685	.	0.457689	0.25217	N	0.032272	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	709;496;496;513;709	.	ENSP00000354913:E513X	E	+	1	0	FAM135A	71291633	1.000000	0.71417	0.983000	0.44433	0.596000	0.36781	8.759000	0.91667	2.885000	0.99019	0.655000	0.94253	GAA	FAM135A	-	NULL	ENSG00000082269		0.348	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	59	0.00	0	G	NM_020819		71234912	71234912	+1	no_errors	ENST00000418814	ensembl	human	known	69_37n	nonsense	31	20.51	8	SNP	1.000	T
FAM135A	57579	genome.wustl.edu	37	6	71234993	71234993	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:71234993C>A	ENST00000418814.2	+	15	2820	c.2206C>A	c.(2206-2208)Cta>Ata	p.L736I	FAM135A_ENST00000361499.3_Missense_Mutation_p.L540I|FAM135A_ENST00000370479.3_Missense_Mutation_p.L523I|FAM135A_ENST00000457062.2_Missense_Mutation_p.L523I|FAM135A_ENST00000505868.1_Missense_Mutation_p.L736I|FAM135A_ENST00000505769.1_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	736										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ACGAAGTAATCTACCTGCCCC	0.323																																						dbGAP											0													55.0	57.0	56.0					6																	71234993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2206C>A	6.37:g.71234993C>A	ENSP00000410768:p.Leu736Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.L736I	ENST00000418814.2	37	c.2206	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	C	7.816	0.716832	0.15306	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.88	2.02	0.26589	.	1.114960	0.06678	N	0.767384	T	0.14527	0.0351	L	0.29908	0.895	0.09310	N	0.999999	B;B;B;B	0.32010	0.228;0.146;0.305;0.351	B;B;B;B	0.38056	0.264;0.058;0.188;0.192	T	0.41197	-0.9522	10	0.22109	T	0.4	.	7.246	0.26121	0.1204:0.5849:0.232:0.0627	.	736;736;540;523	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	I	736;523;523;540;736	ENSP00000410768:L736I;ENSP00000359510:L523I;ENSP00000409201:L523I;ENSP00000354913:L540I;ENSP00000423307:L736I	ENSP00000354913:L540I	L	+	1	2	FAM135A	71291714	0.940000	0.31905	0.353000	0.25747	0.974000	0.67602	1.891000	0.39738	0.078000	0.16900	0.655000	0.94253	CTA	FAM135A	-	NULL	ENSG00000082269		0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	73	0.00	0	C	NM_020819		71234993	71234993	+1	no_errors	ENST00000418814	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	0.150	A
FAM135B	51059	genome.wustl.edu	37	8	139164465	139164465	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:139164465G>A	ENST00000395297.1	-	13	2423	c.2253C>T	c.(2251-2253)agC>agT	p.S751S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	751										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGGTAAAGAGCTAATGGAGG	0.527										HNSCC(54;0.14)																												dbGAP											0													39.0	43.0	41.0					8																	139164465		2149	4261	6410	-	-	-	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2253C>T	8.37:g.139164465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S751	ENST00000395297.1	37	c.2253	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	56	0.00	0	G	NM_015912		139164465	139164465	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	silent	67	15.19	12	SNP	1.000	A
FAM135B	51059	genome.wustl.edu	37	8	139164562	139164562	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:139164562C>T	ENST00000395297.1	-	13	2326	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCATGTCTTCGAACAAACGG	0.567										HNSCC(54;0.14)																												dbGAP											0													44.0	45.0	45.0					8																	139164562		1986	4155	6141	-	-	-	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2156G>A	8.37:g.139164562C>T	ENSP00000378710:p.Arg719Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.R719Q	ENST00000395297.1	37	c.2156	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668684	0.47677	.	.	ENSG00000147724	ENST00000395297	T	0.16073	2.37	5.55	4.67	0.58626	.	0.337294	0.28983	N	0.013506	T	0.18130	0.0435	L	0.58669	1.825	0.22819	N	0.998697	D;P;P	0.55172	0.97;0.931;0.604	B;B;B	0.41412	0.356;0.23;0.052	T	0.13442	-1.0509	10	0.34782	T	0.22	-7.0874	11.5836	0.50906	0.0:0.9183:0.0:0.0817	.	719;719;719	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Q	719	ENSP00000378710:R719Q	ENSP00000276737:R719Q	R	-	2	0	FAM135B	139233744	0.041000	0.20044	0.033000	0.17914	0.347000	0.29111	2.455000	0.44988	1.357000	0.45904	0.655000	0.94253	CGA	FAM135B	-	NULL	ENSG00000147724		0.567	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	98	1.00	1	C	NM_015912		139164562	139164562	-1	no_errors	ENST00000395297	ensembl	human	known	69_37n	missense	74	16.85	15	SNP	0.364	T
FAM13A	10144	genome.wustl.edu	37	4	89653251	89653251	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:89653251G>A	ENST00000264344.5	-	22	2952	c.2745C>T	c.(2743-2745)ttC>ttT	p.F915F	FAM13A_ENST00000395002.2_Silent_p.F561F|FAM13A_ENST00000513837.1_Silent_p.F561F|FAM13A_ENST00000511976.1_Silent_p.F501F|FAM13A_ENST00000503556.1_Silent_p.F575F|FAM13A-AS1_ENST00000500765.1_RNA|FAM13A_ENST00000508369.1_Silent_p.F589F	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	915					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CGTCATCTTCGAATTGGTCCA	0.453																																						dbGAP											0													162.0	139.0	146.0					4																	89653251		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2745C>T	4.37:g.89653251G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F915	ENST00000264344.5	37	c.2745	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.453	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	167	0.00	0	G			89653251	89653251	-1	no_errors	ENST00000264344	ensembl	human	known	69_37n	silent	117	11.36	15	SNP	0.814	A
FAM13B	51306	genome.wustl.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:137289150G>A	ENST00000033079.3	-	15	2108	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_ENST00000425075.2_Nonsense_Mutation_p.R457*|FAM13B_ENST00000420893.2_Nonsense_Mutation_p.R553*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	553					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353																																						dbGAP											0													115.0	111.0	112.0					5																	137289150		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1657C>T	5.37:g.137289150G>A	ENSP00000033079:p.Arg553*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R553*	ENST00000033079.3	37	c.1657	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	G	41	9.156967	0.99084	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9213	13.6288	0.62183	0.0:0.0:0.8451:0.1549	.	.	.	.	X	553;457;553	.	ENSP00000033079:R553X	R	-	1	2	FAM13B	137317049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.454000	0.52986	2.403000	0.81681	0.585000	0.79938	CGA	FAM13B	-	NULL	ENSG00000031003		0.353	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	348	0.00	0	G			137289150	137289150	-1	no_errors	ENST00000033079	ensembl	human	known	69_37n	nonsense	238	40.80	164	SNP	1.000	A
FAM149B1	317662	genome.wustl.edu	37	10	74968530	74968530	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:74968530C>T	ENST00000242505.6	+	6	870	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_173348.1	NP_775483.1	Q96BN6	F149B_HUMAN	family with sequence similarity 149, member B1	232										breast(2)|endometrium(1)|kidney(1)|stomach(3)	7						ACCTAGCATTCGATCACATAG	0.343																																						dbGAP											0													99.0	80.0	86.0					10																	74968530		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AB023191	CCDS44435.1	10q22.2	2008-10-27	2007-11-14	2007-11-14	ENSG00000138286	ENSG00000138286			29162	protein-coding gene	gene with protein product			"""KIAA0974"""	KIAA0974		10231032	Standard	NM_173348		Approved		uc009xqz.3	Q96BN6	OTTHUMG00000067794	ENST00000242505.6:c.696C>T	10.37:g.74968530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y2I0	Missense_Mutation	SNP	pfam_DUF3719	p.S173L	ENST00000242505.6	37	c.518	CCDS44435.1	10	.	.	.	.	.	.	.	.	.	.	C	8.261	0.811288	0.16537	.	.	ENSG00000138286	ENST00000372955	.	.	.	5.09	-6.94	0.01633	.	.	.	.	.	T	0.61664	0.2365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65360	-0.6187	4	.	.	.	-7.3903	14.7672	0.69648	0.0:0.7775:0.0:0.2225	.	.	.	.	L	173	.	.	S	+	2	0	FAM149B1	74638536	0.170000	0.23016	0.674000	0.29902	0.941000	0.58515	-1.261000	0.02855	-1.414000	0.02025	-0.482000	0.04802	TCG	FAM149B1	-	NULL	ENSG00000138286		0.343	FAM149B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM149B1	HGNC	protein_coding	OTTHUMT00000145438.1	314	0.00	0	C	NM_173348		74968530	74968530	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372955	ensembl	human	known	69_37n	missense	170	28.87	69	SNP	0.837	T
FAM153C	653316	genome.wustl.edu	37	5	177482538	177482538	+	IGR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:177482538C>T	ENST00000511511.1	+	0	1098							Q494X1	F153C_HUMAN	family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aagaggaatgcggtaggagag	0.572																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1			5.37:g.177482538C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF33|B2RUV5|B7ZW12	RNA	SNP	-	NULL	ENST00000511511.1	37	NULL		5																																																																																			FAM153C	-	-	ENSG00000204677		0.572	FAM153C-006	KNOWN	basic	processed_transcript	FAM153C	HGNC	protein_coding	OTTHUMT00000373560.1	13	0.00	0	C	NM_001079527		177482538	177482538	+1	no_errors	ENST00000506096	ensembl	human	known	69_37n	rna	13	30.00	6	SNP	0.274	T
FAM160A1	729830	genome.wustl.edu	37	4	152498883	152498883	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:152498883G>A	ENST00000505231.1	+	3	546	c.387G>A	c.(385-387)tcG>tcA	p.S129S	RN7SKP35_ENST00000517210.1_RNA|FAM160A1_ENST00000435205.1_Silent_p.S129S			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	129										endometrium(2)|kidney(1)	3						TCACCCAGTCGCACCAGCCTC	0.483																																						dbGAP											0													97.0	85.0	89.0					4																	152498883		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.387G>A	4.37:g.152498883G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUS2	Silent	SNP	pfam_RetinoicA-induced_16-like	p.S129	ENST00000505231.1	37	c.387	CCDS47146.1	4																																																																																			FAM160A1	-	pfam_RetinoicA-induced_16-like	ENSG00000164142		0.483	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	255	0.00	0	G	NM_001109977		152498883	152498883	+1	no_errors	ENST00000435205	ensembl	human	known	69_37n	silent	130	25.81	48	SNP	0.001	A
FAM160A1	729830	genome.wustl.edu	37	4	152551019	152551019	+	Missense_Mutation	SNP	C	C	T	rs369099144		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:152551019C>T	ENST00000505231.1	+	6	1303	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	FAM160A1_ENST00000435205.1_Missense_Mutation_p.R382W			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	382										endometrium(2)|kidney(1)	3						CACCCCGTTTCGGGTAAGGAG	0.448																																						dbGAP											0													74.0	55.0	61.0					4																	152551019		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.1144C>T	4.37:g.152551019C>T	ENSP00000421580:p.Arg382Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUS2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.R382W	ENST00000505231.1	37	c.1144	CCDS47146.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297947	0.81025	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.32515	1.45;1.45	5.54	4.61	0.57282	.	.	.	.	.	T	0.58424	0.2121	M	0.80847	2.515	0.37237	D	0.90595	D	0.89917	1.0	D	0.91635	0.999	T	0.68447	-0.5406	9	0.87932	D	0	.	16.313	0.82904	0.1987:0.8012:0.0:0.0	.	382	Q05DH4	F16A1_HUMAN	W	382	ENSP00000413196:R382W;ENSP00000421580:R382W	ENSP00000413196:R382W	R	+	1	2	FAM160A1	152770469	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.539000	0.60657	2.618000	0.88619	0.579000	0.79373	CGG	FAM160A1	-	pfam_RetinoicA-induced_16-like	ENSG00000164142		0.448	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	168	0.00	0	C	NM_001109977		152551019	152551019	+1	no_errors	ENST00000435205	ensembl	human	known	69_37n	missense	86	23.68	27	SNP	1.000	T
FAM161A	84140	genome.wustl.edu	37	2	62053705	62053705	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:62053705C>A	ENST00000405894.3	-	6	1969	c.1868G>T	c.(1867-1869)aGa>aTa	p.R623I	FAM161A_ENST00000404929.1_Missense_Mutation_p.R679I	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	623	Glu-rich.				cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCATTCTCTCTTTCTTCTAT	0.328																																						dbGAP											0													71.0	64.0	66.0					2																	62053705		1800	4070	5870	-	-	-	SO:0001583	missense	0				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1868G>T	2.37:g.62053705C>A	ENSP00000385893:p.Arg623Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV7|Q9H8R2	Missense_Mutation	SNP	pfam_UPF0564	p.R623I	ENST00000405894.3	37	c.1868	CCDS42687.2	2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659343	0.47467	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.24350	2.66;1.86	5.7	3.89	0.44902	.	1.176710	0.06687	U	0.768945	T	0.28267	0.0698	N	0.24115	0.695	0.38762	D	0.954342	P;D	0.54207	0.94;0.965	P;P	0.54312	0.564;0.748	T	0.12630	-1.0540	10	0.44086	T	0.13	.	5.7083	0.17921	0.0:0.6693:0.1618:0.1689	.	623;679	Q3B820;Q3B820-3	F161A_HUMAN;.	I	679;623	ENSP00000385158:R679I;ENSP00000385893:R623I	ENSP00000385158:R679I	R	-	2	0	FAM161A	61907209	0.983000	0.35010	0.998000	0.56505	0.897000	0.52465	0.432000	0.21461	1.565000	0.49641	0.551000	0.68910	AGA	FAM161A	-	NULL	ENSG00000170264		0.328	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM161A	HGNC	protein_coding	OTTHUMT00000325537.2	167	0.00	0	C	NM_032180		62053705	62053705	-1	no_errors	ENST00000405894	ensembl	human	known	69_37n	missense	148	19.57	36	SNP	0.988	A
FAM161A	84140	genome.wustl.edu	37	2	62066710	62066710	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:62066710C>T	ENST00000405894.3	-	3	1530	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	FAM161A_ENST00000404929.1_Missense_Mutation_p.E477K	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	477					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCATCTGCTTCGATGTCTGCC	0.383																																						dbGAP											0													114.0	108.0	110.0					2																	62066710		1869	4111	5980	-	-	-	SO:0001583	missense	0				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1429G>A	2.37:g.62066710C>T	ENSP00000385893:p.Glu477Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV7|Q9H8R2	Missense_Mutation	SNP	pfam_UPF0564	p.E477K	ENST00000405894.3	37	c.1429	CCDS42687.2	2	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939110	0.34189	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.22945	1.93;1.93	5.12	-8.4	0.00965	.	0.704963	0.14258	N	0.330982	T	0.11495	0.0280	N	0.22421	0.69	0.09310	N	1	B;B	0.18610	0.006;0.029	B;B	0.13407	0.003;0.009	T	0.21143	-1.0254	10	0.22109	T	0.4	-9.8504	9.9092	0.41394	0.0:0.1377:0.4142:0.4481	.	477;477	Q3B820;Q3B820-3	F161A_HUMAN;.	K	477	ENSP00000385158:E477K;ENSP00000385893:E477K	ENSP00000385158:E477K	E	-	1	0	FAM161A	61920214	0.004000	0.15560	0.021000	0.16686	0.987000	0.75469	-0.091000	0.11146	-1.347000	0.02208	-0.156000	0.13503	GAA	FAM161A	-	pfam_UPF0564	ENSG00000170264		0.383	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM161A	HGNC	protein_coding	OTTHUMT00000325537.2	303	0.00	0	C	NM_032180		62066710	62066710	-1	no_errors	ENST00000405894	ensembl	human	known	69_37n	missense	233	11.74	31	SNP	0.010	T
FAM161A	84140	genome.wustl.edu	37	2	62067352	62067352	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:62067352C>T	ENST00000405894.3	-	3	888	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	FAM161A_ENST00000404929.1_Missense_Mutation_p.E263K	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	263					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTACCATTTCGATATCTGAT	0.388																																						dbGAP											0													194.0	170.0	177.0					2																	62067352		1822	4086	5908	-	-	-	SO:0001583	missense	0				CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.787G>A	2.37:g.62067352C>T	ENSP00000385893:p.Glu263Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV7|Q9H8R2	Missense_Mutation	SNP	pfam_UPF0564	p.E263K	ENST00000405894.3	37	c.787	CCDS42687.2	2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877915	0.51801	.	.	ENSG00000170264	ENST00000404929;ENST00000405894	T;T	0.27720	1.65;1.65	5.28	4.4	0.53042	.	0.104604	0.64402	N	0.000006	T	0.51635	0.1686	M	0.78049	2.395	0.49389	D	0.999788	D;D	0.69078	0.997;0.997	P;P	0.61477	0.889;0.828	T	0.53753	-0.8394	10	0.41790	T	0.15	-8.8318	13.2988	0.60313	0.0:0.923:0.0:0.077	.	263;263	Q3B820;Q3B820-3	F161A_HUMAN;.	K	263	ENSP00000385158:E263K;ENSP00000385893:E263K	ENSP00000385158:E263K	E	-	1	0	FAM161A	61920856	0.999000	0.42202	0.009000	0.14445	0.030000	0.12068	4.349000	0.59385	1.210000	0.43336	0.563000	0.77884	GAA	FAM161A	-	pfam_UPF0564	ENSG00000170264		0.388	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM161A	HGNC	protein_coding	OTTHUMT00000325537.2	455	0.22	1	C	NM_032180		62067352	62067352	-1	no_errors	ENST00000405894	ensembl	human	known	69_37n	missense	328	22.09	93	SNP	0.915	T
FAM162A	26355	genome.wustl.edu	37	3	122128605	122128605	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122128605C>T	ENST00000477892.1	+	5	476	c.392C>T	c.(391-393)aCt>aTt	p.T131I	FAM162A_ENST00000232125.5_Missense_Mutation_p.T121I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	131					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AGACACGAGACTTTAACAAGC	0.453																																						dbGAP											0													118.0	108.0	111.0					3																	122128605		1904	4131	6035	-	-	-	SO:0001583	missense	0			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.392C>T	3.37:g.122128605C>T	ENSP00000419088:p.Thr131Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NRN6|Q9UJX8	Missense_Mutation	SNP	pfam_DUF1075	p.T131I	ENST00000477892.1	37	c.392	CCDS43139.1	3	.	.	.	.	.	.	.	.	.	.	C	8.934	0.964177	0.18583	.	.	ENSG00000114023	ENST00000232125;ENST00000477892	T;T	0.29655	1.56;1.56	5.44	4.56	0.56223	.	1.000090	0.08071	N	0.999751	T	0.37892	0.1020	M	0.68952	2.095	0.80722	D	1	B	0.20164	0.042	B	0.21917	0.037	T	0.16988	-1.0384	10	0.72032	D	0.01	.	12.0967	0.53758	0.0:0.8279:0.1721:0.0	.	131	Q96A26	F162A_HUMAN	I	121;131	ENSP00000232125:T121I;ENSP00000419088:T131I	ENSP00000232125:T121I	T	+	2	0	FAM162A	123611295	0.996000	0.38824	0.997000	0.53966	0.014000	0.08584	1.252000	0.32874	1.514000	0.48869	-0.176000	0.13171	ACT	FAM162A	-	pfam_DUF1075	ENSG00000114023		0.453	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162A	HGNC	protein_coding	OTTHUMT00000355766.1	147	0.00	0	C	NM_014367		122128605	122128605	+1	no_errors	ENST00000477892	ensembl	human	known	69_37n	missense	138	21.14	37	SNP	0.999	T
FAM171B	165215	genome.wustl.edu	37	2	187627462	187627462	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:187627462G>T	ENST00000304698.5	+	8	2596	c.2393G>T	c.(2392-2394)aGa>aTa	p.R798I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	798						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCCACTAAAAGAAGGGGCAGA	0.483																																						dbGAP											0													62.0	61.0	61.0					2																	187627462		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2393G>T	2.37:g.187627462G>T	ENSP00000304108:p.Arg798Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.R798I	ENST00000304698.5	37	c.2393	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438296	0.43326	.	.	ENSG00000144369	ENST00000304698	T	0.33216	1.42	6.02	0.983	0.19767	AT hook, DNA-binding motif (1);	0.302464	0.32204	N	0.006422	T	0.26231	0.0640	N	0.19112	0.55	0.46011	D	0.998816	P;P	0.39311	0.667;0.667	P;P	0.47786	0.557;0.557	T	0.04216	-1.0968	10	0.59425	D	0.04	-11.7265	9.9179	0.41446	0.7496:0.0:0.2504:0.0	.	798;799	Q6P995;A8K122	F171B_HUMAN;.	I	798	ENSP00000304108:R798I	ENSP00000304108:R798I	R	+	2	0	FAM171B	187335707	1.000000	0.71417	0.208000	0.23602	0.746000	0.42486	2.933000	0.48948	-0.057000	0.13199	-0.781000	0.03364	AGA	FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.483	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	192	0.00	0	G	NM_177454		187627462	187627462	+1	no_errors	ENST00000304698	ensembl	human	known	69_37n	missense	86	30.08	37	SNP	0.780	T
FAM172A	83989	genome.wustl.edu	37	5	93120105	93120105	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:93120105C>T	ENST00000395965.3	-	9	1149	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	FAM172A_ENST00000509163.1_Missense_Mutation_p.R290Q|FAM172A_ENST00000509739.1_Missense_Mutation_p.R189Q|FAM172A_ENST00000505869.1_Missense_Mutation_p.R226Q	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	336						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CATCCATTCTCGAATCGTTTT	0.443																																						dbGAP											0													190.0	170.0	177.0					5																	93120105		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.1007G>A	5.37:g.93120105C>T	ENSP00000379294:p.Arg336Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.R336Q	ENST00000395965.3	37	c.1007	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136294	0.37728	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.27	5.27	0.74061	.	0.065520	0.64402	D	0.000005	T	0.09774	0.0240	N	0.11560	0.145	0.58432	D	0.999993	P;B;B;B	0.45126	0.851;0.226;0.093;0.056	B;B;B;B	0.36989	0.238;0.009;0.005;0.004	T	0.29731	-1.0002	10	0.15066	T	0.55	-7.2624	18.9111	0.92485	0.0:1.0:0.0:0.0	.	94;189;226;336	B4DKR7;B4DMI0;B4DJ14;Q8WUF8	.;.;.;F172A_HUMAN	Q	336;226;189;290	ENSP00000379294:R336Q;ENSP00000426284:R226Q;ENSP00000421834:R189Q;ENSP00000423841:R290Q	ENSP00000379294:R336Q	R	-	2	0	FAM172A	93145861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.493000	0.53266	2.464000	0.83262	0.650000	0.86243	CGA	FAM172A	-	NULL	ENSG00000113391		0.443	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	445	0.00	0	C	NM_032042		93120105	93120105	-1	no_errors	ENST00000395965	ensembl	human	known	69_37n	missense	290	16.91	59	SNP	1.000	T
FAM175A	84142	genome.wustl.edu	37	4	84403385	84403385	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:84403385G>A	ENST00000321945.7	-	2	208	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_5'UTR|FAM175A_ENST00000515303.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	34	MPN-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ACTTCCCCAAGAAGAAAACCT	0.328																																						dbGAP											0													94.0	87.0	89.0					4																	84403385		1835	4087	5922	-	-	-	SO:0001583	missense	0			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.100C>T	4.37:g.84403385G>A	ENSP00000369857:p.Leu34Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su	p.L34F	ENST00000321945.7	37	c.100	CCDS3605.2	4	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918273	0.73098	.	.	ENSG00000163322	ENST00000321945	T	0.53206	0.63	5.47	4.6	0.57074	.	0.128062	0.53938	D	0.000049	T	0.46151	0.1378	M	0.62266	1.93	0.80722	D	1	B	0.24186	0.099	B	0.25884	0.064	T	0.35450	-0.9788	10	0.24483	T	0.36	-6.0961	14.6841	0.69037	0.0:0.0:0.8424:0.1576	.	34	Q6UWZ7	F175A_HUMAN	F	34	ENSP00000369857:L34F	ENSP00000369857:L34F	L	-	1	0	FAM175A	84622409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.956000	0.49129	1.235000	0.43724	0.591000	0.81541	CTT	FAM175A	-	prints_FAM175	ENSG00000163322		0.328	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175A	HGNC	protein_coding	OTTHUMT00000252818.1	113	0.00	0	G	NM_139076		84403385	84403385	-1	no_errors	ENST00000321945	ensembl	human	known	69_37n	missense	58	29.27	24	SNP	1.000	A
FAM179A	165186	genome.wustl.edu	37	2	29226363	29226363	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:29226363G>T	ENST00000379558.4	+	6	996	c.645G>T	c.(643-645)caG>caT	p.Q215H	FAM179A_ENST00000403861.2_Missense_Mutation_p.Q215H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	215										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCAGGCGCAGATCTCCTGGC	0.602																																						dbGAP											0													27.0	31.0	30.0					2																	29226363		2100	4215	6315	-	-	-	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.645G>T	2.37:g.29226363G>T	ENSP00000368876:p.Gln215His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.Q215H	ENST00000379558.4	37	c.645	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	7.302	0.613261	0.14066	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.12774	2.94;2.65	5.01	4.12	0.48240	.	.	.	.	.	T	0.11793	0.0287	L	0.32530	0.975	0.26312	N	0.977809	B;B	0.14438	0.01;0.006	B;B	0.16289	0.015;0.007	T	0.19321	-1.0309	9	0.33141	T	0.24	.	11.3848	0.49778	0.0:0.1833:0.8167:0.0	.	215;215	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	215	ENSP00000368876:Q215H;ENSP00000384699:Q215H	ENSP00000368876:Q215H	Q	+	3	2	FAM179A	29079867	0.973000	0.33851	0.634000	0.29324	0.018000	0.09664	1.952000	0.40343	1.081000	0.41110	0.491000	0.48974	CAG	FAM179A	-	NULL	ENSG00000189350		0.602	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	88	0.00	0	G	NM_199280		29226363	29226363	+1	no_errors	ENST00000379558	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	0.974	T
EVA1A	84141	genome.wustl.edu	37	2	75720614	75720614	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:75720614C>A	ENST00000233712.1	-	4	644	c.207G>T	c.(205-207)aaG>aaT	p.K69N	EVA1A_ENST00000410071.1_Missense_Mutation_p.K69N|EVA1A_ENST00000410010.1_Missense_Mutation_p.K57N|EVA1A_ENST00000393913.3_Missense_Mutation_p.K69N|EVA1A_ENST00000410113.1_Missense_Mutation_p.K69N|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	69					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GCAGGAACTTCTTCCCGGGAC	0.612																																						dbGAP											0													58.0	52.0	54.0					2																	75720614		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.207G>T	2.37:g.75720614C>A	ENSP00000233712:p.Lys69Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.K69N	ENST00000233712.1	37	c.207	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214517	0.39102	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	4.9	3.03	0.35002	.	0.303780	0.41097	N	0.000947	T	0.46405	0.1391	M	0.83953	2.67	0.51482	D	0.999924	P	0.41188	0.741	B	0.37943	0.261	T	0.47837	-0.9086	10	0.37606	T	0.19	0.6459	7.9342	0.29920	0.0:0.741:0.1672:0.0919	.	69	Q9H8M9	F176A_HUMAN	N	69;69;69;57;69;69;69	ENSP00000377490:K69N;ENSP00000233712:K69N;ENSP00000386435:K69N;ENSP00000386835:K57N;ENSP00000386930:K69N;ENSP00000398249:K69N;ENSP00000388105:K69N	ENSP00000233712:K69N	K	-	3	2	FAM176A	75574122	0.992000	0.36948	0.894000	0.35097	0.555000	0.35460	0.690000	0.25451	1.309000	0.44985	0.650000	0.86243	AAG	FAM176A	-	NULL	ENSG00000115363		0.612	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM176A	HGNC	protein_coding	OTTHUMT00000328707.1	132	0.00	0	C	NM_032181		75720614	75720614	-1	no_errors	ENST00000233712	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	1.000	A
FAM179B	23116	genome.wustl.edu	37	14	45473438	45473438	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:45473438A>C	ENST00000361577.3	+	4	2727	c.2513A>C	c.(2512-2514)aAg>aCg	p.K838T	FAM179B_ENST00000382233.2_Missense_Mutation_p.K838T|FAM179B_ENST00000361462.2_Missense_Mutation_p.K838T|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	838										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATATCTCCAAAGAAGTCTCAA	0.413																																						dbGAP											0													95.0	95.0	95.0					14																	45473438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2513A>C	14.37:g.45473438A>C	ENSP00000355045:p.Lys838Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K838T	ENST00000361577.3	37	c.2513	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745548	0.69418	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.17854	2.3;2.25;3.73;3.73	5.46	5.46	0.80206	Armadillo-type fold (1);	0.147666	0.45361	D	0.000363	T	0.24198	0.0586	L	0.27053	0.805	0.36858	D	0.88825	D;D;D	0.67145	0.996;0.988;0.991	P;P;D	0.64144	0.871;0.844;0.922	T	0.14392	-1.0474	10	0.56958	D	0.05	-13.7445	9.1248	0.36807	0.9167:0.0:0.0833:0.0	.	838;838;838	G3XAE9;Q9Y4F4;Q9Y4F4-2	.;F179B_HUMAN;.	T	838;838;838;838;157	ENSP00000355045:K838T;ENSP00000354917:K838T;ENSP00000371668:K838T;ENSP00000451141:K157T	ENSP00000354917:K838T	K	+	2	0	FAM179B	44543188	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.399000	0.44495	2.068000	0.61886	0.460000	0.39030	AAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.413	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	207	0.00	0	A	XM_113781		45473438	45473438	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	missense	148	15.43	27	SNP	1.000	C
FAM179B	23116	genome.wustl.edu	37	14	45475465	45475465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:45475465G>T	ENST00000361577.3	+	5	3113	c.2899G>T	c.(2899-2901)Gaa>Taa	p.E967*	FAM179B_ENST00000382233.2_Nonsense_Mutation_p.E967*|FAM179B_ENST00000361462.2_Nonsense_Mutation_p.E967*|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	967										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTGGATCAAGAAGAGGTTAG	0.259																																						dbGAP											0													31.0	35.0	33.0					14																	45475465		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2899G>T	14.37:g.45475465G>T	ENSP00000355045:p.Glu967*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E967*	ENST00000361577.3	37	c.2899	CCDS9681.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.262145|7.262145	0.98171|0.98171	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233|ENST00000557250	.|.	.|.	.|.	5.24|5.24	3.42|3.42	0.39159|0.39159	.|.	0.529875|.	0.19042|.	N|.	0.124264|.	.|T	.|0.53850	.|0.1822	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61787	.|-0.6991	.|3	0.66056|.	D|.	0.02|.	-8.1772|-8.1772	11.121|11.121	0.48289|0.48289	0.1516:0.0:0.8484:0.0|0.1516:0.0:0.8484:0.0	.|.	.|.	.|.	.|.	X|N	967|158	.|.	ENSP00000354917:E967X|.	E|K	+|+	1|3	0|2	FAM179B|FAM179B	44545215|44545215	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	4.033000|4.033000	0.57282|0.57282	0.603000|0.603000	0.29913|0.29913	0.563000|0.563000	0.77884|0.77884	GAA|AAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.259	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	81	0.00	0	G	XM_113781		45475465	45475465	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	nonsense	64	16.88	13	SNP	1.000	T
FAM179B	23116	genome.wustl.edu	37	14	45497438	45497438	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:45497438G>T	ENST00000361577.3	+	10	3778	c.3564G>T	c.(3562-3564)gaG>gaT	p.E1188D	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.E1188D|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1188										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAAAGAAGAGAAAGAACTGT	0.323																																						dbGAP											0													73.0	79.0	77.0					14																	45497438		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3564G>T	14.37:g.45497438G>T	ENSP00000355045:p.Glu1188Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1188D	ENST00000361577.3	37	c.3564	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513696	0.44763	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.12879	2.64;2.64	5.59	3.26	0.37387	Armadillo-type fold (1);	0.363282	0.28809	N	0.014072	T	0.09291	0.0229	L	0.29908	0.895	0.80722	D	1	B;B	0.33637	0.291;0.42	B;B	0.31547	0.132;0.099	T	0.19647	-1.0299	10	0.52906	T	0.07	-13.979	6.9912	0.24755	0.8044:0.0:0.1956:0.0	.	1188;1188	G3XAE9;Q9Y4F4	.;F179B_HUMAN	D	1188	ENSP00000355045:E1188D;ENSP00000354917:E1188D	ENSP00000354917:E1188D	E	+	3	2	FAM179B	44567188	1.000000	0.71417	0.995000	0.50966	0.876000	0.50452	2.678000	0.46900	0.419000	0.25927	-0.471000	0.05019	GAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.323	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	197	0.51	1	G	XM_113781		45497438	45497438	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	missense	136	18.07	30	SNP	1.000	T
FAM184A	79632	genome.wustl.edu	37	6	119297138	119297138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:119297138C>A	ENST00000338891.7	-	12	2970	c.2527G>T	c.(2527-2529)Gaa>Taa	p.E843*	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E723*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E843*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E723*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	843						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGCCAATTCTTGATGATGA	0.383																																						dbGAP											0													98.0	92.0	94.0					6																	119297138		1871	4116	5987	-	-	-	SO:0001587	stop_gained	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2527G>T	6.37:g.119297138C>A	ENSP00000342604:p.Glu843*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E843*	ENST00000338891.7	37	c.2527	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	44	11.029635	0.99505	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-16.5323	18.7445	0.91787	0.0:1.0:0.0:0.0	.	.	.	.	X	6;843;723;723;843	.	ENSP00000342604:E843X	E	-	1	0	FAM184A	119338837	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.310000	0.65780	2.437000	0.82529	0.563000	0.77884	GAA	FAM184A	-	NULL	ENSG00000111879		0.383	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	153	0.00	0	C	NM_024581		119297138	119297138	-1	no_errors	ENST00000338891	ensembl	human	known	69_37n	nonsense	99	25.56	34	SNP	1.000	A
FAM184A	79632	genome.wustl.edu	37	6	119345663	119345663	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:119345663C>T	ENST00000338891.7	-	2	918	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E39K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E159K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E39K|FAM184A_ENST00000522284.1_Missense_Mutation_p.E39K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	159						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTAATCTCTTCGACTTCTCTA	0.403																																						dbGAP											0													95.0	88.0	90.0					6																	119345663		1848	4087	5935	-	-	-	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.475G>A	6.37:g.119345663C>T	ENSP00000342604:p.Glu159Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.E159K	ENST00000338891.7	37	c.475	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648018	0.87958	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.988;0.997;0.988	T	0.46247	-0.9205	10	0.37606	T	0.19	-15.3906	19.8753	0.96867	0.0:1.0:0.0:0.0	.	159;39;159	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	159;39;39;159;39	ENSP00000342604:E159K;ENSP00000326608:E39K;ENSP00000357460:E39K;ENSP00000430442:E159K;ENSP00000429826:E39K	ENSP00000342604:E159K	E	-	1	0	FAM184A	119387362	1.000000	0.71417	0.972000	0.41901	0.627000	0.37826	7.440000	0.80464	2.711000	0.92665	0.655000	0.94253	GAA	FAM184A	-	NULL	ENSG00000111879		0.403	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	131	0.00	0	C	NM_024581		119345663	119345663	-1	no_errors	ENST00000338891	ensembl	human	known	69_37n	missense	112	18.84	26	SNP	1.000	T
FAM189A2	9413	genome.wustl.edu	37	9	71992582	71992582	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:71992582C>T	ENST00000257515.8	+	6	836	c.416C>T	c.(415-417)cCt>cTt	p.P139L	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.P139L	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	139						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCCCCGACCCTGATGATTTT	0.517																																						dbGAP											0													130.0	111.0	117.0					9																	71992582		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.416C>T	9.37:g.71992582C>T	ENSP00000257515:p.Pro139Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Missense_Mutation	SNP	pfam_CD20-like	p.P139L	ENST00000257515.8	37	c.416	CCDS6629.1	9	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664392	0.29604	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	T;T	0.03065	4.06;4.06	5.85	4.95	0.65309	.	0.117593	0.64402	D	0.000020	T	0.06234	0.0161	M	0.64997	1.995	0.80722	D	1	B	0.25390	0.125	B	0.24848	0.056	T	0.32402	-0.9908	10	0.22706	T	0.39	-17.9754	15.0489	0.71850	0.0:0.9302:0.0:0.0698	.	139	Q15884	F1892_HUMAN	L	139;139;138	ENSP00000395675:P139L;ENSP00000257515:P139L	ENSP00000257515:P139L	P	+	2	0	FAM189A2	71182402	0.997000	0.39634	0.967000	0.41034	0.631000	0.37964	3.728000	0.54991	2.771000	0.95319	0.561000	0.74099	CCT	FAM189A2	-	NULL	ENSG00000135063		0.517	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	470	0.00	0	C	NM_004816		71992582	71992582	+1	no_errors	ENST00000257515	ensembl	human	known	69_37n	missense	300	26.04	106	SNP	0.998	T
CCSER1	401145	genome.wustl.edu	37	4	91844538	91844538	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:91844538A>G	ENST00000509176.1	+	9	2400	c.2112A>G	c.(2110-2112)ttA>ttG	p.L704L	CCSER1_ENST00000333691.8_Silent_p.L704L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	704																	TCCGGCATTTACAGAAGGCTT	0.348																																						dbGAP											0													235.0	193.0	205.0					4																	91844538		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2112A>G	4.37:g.91844538A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.T130A	ENST00000509176.1	37	c.388	CCDS47099.1	4																																																																																			FAM190A	-	NULL	ENSG00000184305		0.348	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190A	HGNC	protein_coding	OTTHUMT00000363109.3	223	0.00	0	A	NM_001145065		91844538	91844538	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513522	ensembl	human	known	69_37n	missense	105	33.54	53	SNP	0.975	G
CCSER2	54462	genome.wustl.edu	37	10	86131788	86131788	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:86131788G>A	ENST00000224756.8	+	2	1165	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	CCSER2_ENST00000359979.4_Missense_Mutation_p.R327Q|CCSER2_ENST00000372088.2_Missense_Mutation_p.R327Q	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	327					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.R327Q(1)									AAATCTAGCCGATCTCCATTT	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											107.0	107.0	107.0					10																	86131788		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.980G>A	10.37:g.86131788G>A	ENSP00000224756:p.Arg327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.R327Q	ENST00000224756.8	37	c.980	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113716	0.56398	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50548	0.74;2.09;2.08	5.73	3.88	0.44766	.	0.203885	0.31721	N	0.007175	T	0.57242	0.2040	L	0.52364	1.645	0.80722	D	1	P;P;D	0.89917	0.944;0.944;1.0	B;B;D	0.83275	0.372;0.252;0.996	T	0.51364	-0.8715	10	0.16896	T	0.51	-4.8321	10.4304	0.44405	0.1587:0.0:0.8413:0.0	.	327;327;327	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	Q	327	ENSP00000353068:R327Q;ENSP00000224756:R327Q;ENSP00000361160:R327Q	ENSP00000224756:R327Q	R	+	2	0	FAM190B	86121768	0.991000	0.36638	0.998000	0.56505	0.995000	0.86356	2.452000	0.44961	0.778000	0.33520	0.655000	0.94253	CGA	FAM190B	-	NULL	ENSG00000107771		0.423	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	109	0.00	0	G	NM_018999		86131788	86131788	+1	no_errors	ENST00000372088	ensembl	human	known	69_37n	missense	81	27.68	31	SNP	0.998	A
ERICH6	131831	genome.wustl.edu	37	3	150384648	150384648	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:150384648C>A	ENST00000295910.6	-	13	1706	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	FAM194A_ENST00000491361.1_Nonsense_Mutation_p.E406*	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTGTCTTGTTCTAAGATGCGG	0.383																																						dbGAP											0													116.0	112.0	114.0					3																	150384648		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000295910.6:c.1654G>T	3.37:g.150384648C>A	ENSP00000295910:p.Glu552*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E552*	ENST00000295910.6	37	c.1654	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	38	7.129654	0.98085	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	.	.	.	5.41	5.41	0.78517	.	0.279202	0.30547	N	0.009387	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-17.5381	7.2291	0.26033	0.1707:0.7443:0.0:0.085	.	.	.	.	X	552;406;510	.	ENSP00000295910:E552X	E	-	1	0	FAM194A	151867338	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.462000	0.45049	2.544000	0.85801	0.655000	0.94253	GAA	FAM194A	-	NULL	ENSG00000163645		0.383	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	554	0.00	0	C			150384648	150384648	-1	no_errors	ENST00000295910	ensembl	human	known	69_37n	nonsense	403	17.92	88	SNP	0.997	A
ERICH6B	220081	genome.wustl.edu	37	13	46124141	46124141	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46124141C>T	ENST00000298738.2	-	13	1697	c.1533G>A	c.(1531-1533)gcG>gcA	p.A511A	RNA5SP27_ENST00000363839.1_RNA|FAM194B_ENST00000504261.1_5'UTR	NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		511										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TTTTCATTTTCGCATATAAGA	0.463																																						dbGAP											0													127.0	104.0	111.0					13																	46124141		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000298738.2:c.1533G>A	13.37:g.46124141C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MB5	Silent	SNP	NULL	p.A511	ENST00000298738.2	37	c.1533	CCDS45045.1	13																																																																																			FAM194B	-	NULL	ENSG00000165837		0.463	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	190	0.00	0	C			46124141	46124141	-1	no_errors	ENST00000298738	ensembl	human	known	69_37n	silent	152	20.00	38	SNP	0.000	T
ERICH6B	220081	genome.wustl.edu	37	13	46142558	46142558	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46142558A>C	ENST00000298738.2	-	9	1243	c.1079T>G	c.(1078-1080)tTt>tGt	p.F360C		NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		360										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						TATTGTTTTAAATACTGTCTG	0.323																																						dbGAP											0													195.0	168.0	176.0					13																	46142558		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000298738.2:c.1079T>G	13.37:g.46142558A>C	ENSP00000298738:p.Phe360Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MB5	Missense_Mutation	SNP	NULL	p.F360C	ENST00000298738.2	37	c.1079	CCDS45045.1	13	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414577	0.42817	.	.	ENSG00000165837	ENST00000298738	T	0.10288	2.89	4.27	4.27	0.50696	.	.	.	.	.	T	0.23649	0.0572	L	0.43152	1.355	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.03086	-1.1074	9	0.87932	D	0	-20.561	10.0937	0.42462	1.0:0.0:0.0:0.0	.	360;360	A2VDI6;Q5W0A0	.;F194B_HUMAN	C	360	ENSP00000298738:F360C	ENSP00000298738:F360C	F	-	2	0	FAM194B	45040559	0.054000	0.20591	0.013000	0.15412	0.018000	0.09664	1.951000	0.40333	2.175000	0.68902	0.528000	0.53228	TTT	FAM194B	-	NULL	ENSG00000165837		0.323	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	570	0.00	0	A			46142558	46142558	-1	no_errors	ENST00000298738	ensembl	human	known	69_37n	missense	337	26.46	122	SNP	0.016	C
FAM196B	100131897	genome.wustl.edu	37	5	169308432	169308432	+	Missense_Mutation	SNP	C	C	T	rs567915577		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:169308432C>T	ENST00000377365.3	-	3	2742	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	DOCK2_ENST00000523351.1_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000256935.8_Intron|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000520908.1_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	454										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						TTGGCCAGTTCGATAAAAGTT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		20389	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													207.0	167.0	179.0					5																	169308432		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.1361G>A	5.37:g.169308432C>T	ENSP00000366582:p.Arg454Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R454Q	ENST00000377365.3	37	c.1361	CCDS47336.1	5	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866011	0.91511	.	.	ENSG00000204767	ENST00000377365	T	0.61040	0.14	5.63	5.63	0.86233	.	0.188457	0.36034	N	0.002822	T	0.70579	0.3240	L	0.53249	1.67	0.41508	D	0.988324	D	0.89917	1.0	D	0.72338	0.977	T	0.73007	-0.4118	10	0.87932	D	0	-13.0892	13.3774	0.60747	0.0:0.9189:0.0:0.0811	.	454	A6NMK8	F196B_HUMAN	Q	454	ENSP00000366582:R454Q	ENSP00000366582:R454Q	R	-	2	0	FAM196B	169241010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.966000	0.56795	2.637000	0.89404	0.561000	0.74099	CGA	FAM196B	-	NULL	ENSG00000204767		0.488	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196B	HGNC	protein_coding	OTTHUMT00000371629.1	343	0.00	0	C	NM_001129891		169308432	169308432	-1	no_errors	ENST00000377365	ensembl	human	known	69_37n	missense	138	29.23	57	SNP	1.000	T
FAM200B	285550	genome.wustl.edu	37	4	15690585	15690585	+	3'UTR	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:15690585T>C	ENST00000422728.2	+	0	2823				FAM200B_ENST00000504137.1_3'UTR	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B								nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						taaataaaaatcttacctagc	0.313																																						dbGAP											0													43.0	37.0	38.0					4																	15690585		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.*11T>C	4.37:g.15690585T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000422728.2	37	NULL	CCDS47028.1	4																																																																																			FAM200B	-	-	ENSG00000237765		0.313	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	130	0.00	0	T	NM_001145191		15690585	15690585	+1	no_errors	ENST00000502856	ensembl	human	known	69_37n	rna	82	12.77	12	SNP	0.000	C
FAM198B	51313	genome.wustl.edu	37	4	159091526	159091526	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:159091526G>A	ENST00000296530.8	-	2	1532				RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Intron|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CGTGGGTGGAGAAAAATCATT	0.443																																						dbGAP											0													37.0	38.0	38.0					4																	159091526		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+91C>T	4.37:g.159091526G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	NULL	p.S2F	ENST00000296530.8	37	c.5	CCDS3798.1	4																																																																																			FAM198B	-	NULL	ENSG00000164125		0.443	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	97	0.00	0	G	NM_001031700, NM_016613		159091526	159091526	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000593260	ensembl	human	novel	69_37n	missense	43	29.51	18	SNP	0.982	A
FAM208A	23272	genome.wustl.edu	37	3	56667120	56667120	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:56667120T>G	ENST00000493960.2	-	18	3709	c.3699A>C	c.(3697-3699)aaA>aaC	p.K1233N	FAM208A_ENST00000355628.5_Missense_Mutation_p.K1172N|FAM208A_ENST00000431842.2_Missense_Mutation_p.K796N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1233							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATATAAAATTTCACAGTAT	0.328																																						dbGAP											0													54.0	58.0	57.0					3																	56667120		2199	4298	6497	-	-	-	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3699A>C	3.37:g.56667120T>G	ENSP00000417509:p.Lys1233Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.K1172N	ENST00000493960.2	37	c.3516	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757421	0.49468	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.13778	2.56;2.77;2.75	5.62	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.48362	1.52	0.40042	D	0.975668	D;D;D;D	0.89917	1.0;0.994;0.957;0.999	D;D;P;D	0.80764	0.993;0.946;0.888;0.994	T	0.00783	-1.1568	10	0.46703	T	0.11	-21.6278	9.8426	0.41008	0.0:0.2994:0.0:0.7006	.	1233;1172;796;1233	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	N	796;1233;1172	ENSP00000399410:K796N;ENSP00000417509:K1233N;ENSP00000347845:K1172N	ENSP00000347845:K1172N	K	-	3	2	C3orf63	56642160	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.370000	0.20433	0.264000	0.21851	0.477000	0.44152	AAA	FAM208A	-	NULL	ENSG00000163946		0.328	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	56	0.00	0	T	NM_015224		56667120	56667120	-1	no_errors	ENST00000355628	ensembl	human	known	69_37n	missense	35	38.60	22	SNP	0.996	G
FAM208B	54906	genome.wustl.edu	37	10	5765653	5765653	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5765653G>T	ENST00000328090.5	+	7	785	c.160G>T	c.(160-162)Gat>Tat	p.D54Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	54																	GCAGGAACTAGATTTTAAATA	0.323																																						dbGAP											0													105.0	101.0	102.0					10																	5765653		1811	4075	5886	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.160G>T	10.37:g.5765653G>T	ENSP00000328426:p.Asp54Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.D54Y	ENST00000328090.5	37	c.160	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760389	0.69763	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.50001	0.76	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000003	T	0.69682	0.3138	M	0.76002	2.32	0.43360	D	0.995437	D	0.89917	1.0	D	0.76575	0.988	T	0.71471	-0.4583	10	0.87932	D	0	.	17.1217	0.86704	0.0:0.0:1.0:0.0	.	54	Q5VWN6	F208B_HUMAN	Y	54	ENSP00000328426:D54Y	ENSP00000328426:D54Y	D	+	1	0	C10orf18	5805659	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	3.536000	0.53582	2.827000	0.97445	0.650000	0.86243	GAT	FAM208B	-	NULL	ENSG00000108021		0.323	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	146	0.00	0	G	NM_017782		5765653	5765653	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	94	12.04	13	SNP	1.000	T
FAM208B	54906	genome.wustl.edu	37	10	5784153	5784153	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5784153C>A	ENST00000328090.5	+	14	3046	c.2421C>A	c.(2419-2421)atC>atA	p.I807I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	807			I -> V (in dbSNP:rs45575338).														AGAACAAAATCATACGATCTT	0.403																																						dbGAP											0													124.0	114.0	117.0					10																	5784153		1865	4098	5963	-	-	-	SO:0001819	synonymous_variant	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2421C>A	10.37:g.5784153C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.I807	ENST00000328090.5	37	c.2421	CCDS41485.1	10																																																																																			FAM208B	-	NULL	ENSG00000108021		0.403	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	229	0.00	0	C	NM_017782		5784153	5784153	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	silent	174	24.02	55	SNP	0.012	A
FAM208B	54906	genome.wustl.edu	37	10	5790500	5790500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5790500G>T	ENST00000328090.5	+	15	5741	c.5116G>T	c.(5116-5118)Gaa>Taa	p.E1706*		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1706																	GTTACATAAAGAAACCACAGG	0.483																																						dbGAP											0													55.0	56.0	55.0					10																	5790500		2092	4220	6312	-	-	-	SO:0001587	stop_gained	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5116G>T	10.37:g.5790500G>T	ENSP00000328426:p.Glu1706*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.E1706*	ENST00000328090.5	37	c.5116	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	47	13.181328	0.99725	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	5.23	1.05	0.20165	.	0.965011	0.08535	N	0.931363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	3.9598	0.09405	0.1057:0.1578:0.5752:0.1614	.	.	.	.	X	1706;901	.	ENSP00000328426:E1706X	E	+	1	0	C10orf18	5830506	0.192000	0.23301	0.002000	0.10522	0.009000	0.06853	0.443000	0.21644	-0.089000	0.12484	0.563000	0.77884	GAA	FAM208B	-	NULL	ENSG00000108021		0.483	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	87	0.00	0	G	NM_017782		5790500	5790500	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	nonsense	51	15.00	9	SNP	0.015	T
FAM20A	54757	genome.wustl.edu	37	17	66538248	66538248	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:66538248G>T	ENST00000592554.1	-	7	1709	c.987C>A	c.(985-987)gtC>gtA	p.V329V	AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	329					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGTTGCCACAGACAGCATACT	0.612																																						dbGAP											0													115.0	88.0	97.0					17																	66538248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.987C>A	17.37:g.66538248G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN47|B2RN49|Q9UF95	Silent	SNP	pfam_DUF1193	p.V329	ENST00000592554.1	37	c.987	CCDS11679.1	17																																																																																			FAM20A	-	pfam_DUF1193	ENSG00000108950		0.612	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2	195	0.51	1	G	NM_017565		66538248	66538248	-1	no_errors	ENST00000592554	ensembl	human	known	69_37n	silent	110	15.27	20	SNP	1.000	T
FAM214A	56204	genome.wustl.edu	37	15	52901122	52901122	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52901122C>A	ENST00000261844.7	-	6	2141	c.1989G>T	c.(1987-1989)gaG>gaT	p.E663D	FAM214A_ENST00000546305.2_Missense_Mutation_p.E670D	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	663																	GATTATAGTTCTCATTTATTA	0.279																																						dbGAP											0													52.0	49.0	50.0					15																	52901122		1783	4045	5828	-	-	-	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.1989G>T	15.37:g.52901122C>A	ENSP00000261844:p.Glu663Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.E663D	ENST00000261844.7	37	c.1989	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	7.018	0.558120	0.13436	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.35048	1.34;1.33	6.16	-1.41	0.08941	.	0.308209	0.32175	N	0.006467	T	0.18964	0.0455	N	0.21194	0.64	0.19775	N	0.999951	B;B	0.10296	0.003;0.002	B;B	0.15484	0.013;0.006	T	0.13202	-1.0518	10	0.30854	T	0.27	.	7.0769	0.25209	0.0:0.3959:0.1128:0.4913	.	670;663	F5H8G0;Q32MH5	.;K1370_HUMAN	D	663;663;662;670	ENSP00000261844:E663D;ENSP00000443598:E670D	ENSP00000261844:E663D	E	-	3	2	KIAA1370	50688414	0.093000	0.21703	0.025000	0.17156	0.525000	0.34531	-0.153000	0.10144	-0.217000	0.10033	0.650000	0.86243	GAG	FAM214A	-	NULL	ENSG00000047346		0.279	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	84	0.00	0	C	NM_019600		52901122	52901122	-1	no_errors	ENST00000261844	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	0.096	A
FAM220A	84792	genome.wustl.edu	37	7	6370359	6370359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:6370359C>A	ENST00000313324.4	-	2	894	c.427G>T	c.(427-429)Gga>Tga	p.G143*	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	143						nucleus (GO:0005634)											GGGCACTGTCCTCTGTGGCCG	0.597																																						dbGAP											0													39.0	43.0	41.0					7																	6370359		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.427G>T	7.37:g.6370359C>A	ENSP00000317289:p.Gly143*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75ML2|Q8NA52|Q9BRR7	Nonsense_Mutation	SNP	NULL	p.G143*	ENST00000313324.4	37	c.427	CCDS34599.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.755156	0.98471	.	.	ENSG00000178397	ENST00000313324	.	.	.	4.97	3.15	0.36227	.	0.914935	0.09004	U	0.862611	.	.	.	.	.	.	0.24802	N	0.992699	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.5288	9.0441	0.36336	0.0:0.8234:0.0:0.1766	.	.	.	.	X	143	.	ENSP00000317289:G143X	G	-	1	0	C7orf70	6336884	0.000000	0.05858	0.015000	0.15790	0.752000	0.42762	0.173000	0.16724	0.504000	0.28082	0.655000	0.94253	GGA	FAM220A	-	NULL	ENSG00000178397		0.597	FAM220A-001	KNOWN	basic|CCDS	protein_coding	FAM220A	HGNC	protein_coding	OTTHUMT00000242853.2	61	0.00	0	C	NM_001037163		6370359	6370359	-1	no_errors	ENST00000313324	ensembl	human	known	69_37n	nonsense	35	33.96	18	SNP	0.266	A
FAM228A	653140	genome.wustl.edu	37	2	24413377	24413377	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:24413377C>A	ENST00000295150.3	+	6	584	c.498C>A	c.(496-498)tcC>tcA	p.S166S		NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	166																	AGTTCCTTTCCTCAAAGCTCA	0.522																																						dbGAP											0													61.0	64.0	63.0					2																	24413377		1903	4112	6015	-	-	-	SO:0001819	synonymous_variant	0				CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.498C>A	2.37:g.24413377C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P204H	ENST00000295150.3	37	c.611	CCDS42659.1	2	.	.	.	.	.	.	.	.	.	.	C	2.931	-0.221023	0.06061	.	.	ENSG00000186453	ENST00000432434	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	T	0.60983	0.2311	.	.	.	0.43122	D	0.994845	.	.	.	.	.	.	T	0.59241	-0.7491	4	.	.	.	1.0E-4	10.935	0.47241	0.0:1.0:0.0:0.0	.	.	.	.	H	204	.	.	P	+	2	0	C2orf84	24266881	0.006000	0.16342	0.036000	0.18154	0.014000	0.08584	0.347000	0.20014	2.273000	0.75805	0.650000	0.86243	CCT	FAM228A	-	NULL	ENSG00000186453		0.522	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM228A	HGNC	protein_coding	OTTHUMT00000324342.1	102	0.00	0	C	NM_001040710		24413377	24413377	+1	pseudogene:no_stop_codon	ENST00000432434	ensembl	human	novel	69_37n	missense	80	14.89	14	SNP	0.040	A
NUTM2G	441457	genome.wustl.edu	37	9	99697617	99697617	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:99697617C>A	ENST00000372322.3	+	3	742	c.721C>A	c.(721-723)Ctc>Atc	p.L241I	NUTM2G_ENST00000354649.3_Missense_Mutation_p.L241I|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	241																	CAGCCCAGTTCTCCGATCCCT	0.642																																						dbGAP											0													22.0	25.0	24.0					9																	99697617		1889	4094	5983	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.721C>A	9.37:g.99697617C>A	ENSP00000361397:p.Leu241Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.L241I	ENST00000372322.3	37	c.721	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	12.66	2.004169	0.35320	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000375230	T;T	0.37915	1.17;1.17	1.19	1.19	0.21007	.	0.142073	0.32901	N	0.005519	T	0.52175	0.1718	M	0.74647	2.275	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.26360	-1.0105	10	0.87932	D	0	.	5.7883	0.18347	0.0:1.0:0.0:0.0	.	241	Q5VZR2-2	.	I	241;241;122	ENSP00000346670:L241I;ENSP00000361397:L241I	ENSP00000346670:L241I	L	+	1	0	FAM22G	98737438	0.979000	0.34478	0.025000	0.17156	0.073000	0.16967	0.920000	0.28705	0.993000	0.38866	0.298000	0.19748	CTC	FAM22G	-	NULL	ENSG00000188152		0.642	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	145	0.00	0	C	NM_001170741		99697617	99697617	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	85	10.53	10	SNP	0.024	A
FAM47B	170062	genome.wustl.edu	37	X	34961468	34961468	+	Missense_Mutation	SNP	G	G	A	rs369737472		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:34961468G>A	ENST00000329357.5	+	1	556	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	174										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAAGACAACCGAGGTACCCAC	0.607													G|||	1	0.000264901	0.0008	0.0	3775	,	,		10206	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													33.0	32.0	33.0					X																	34961468		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.520G>A	X.37:g.34961468G>A	ENSP00000328307:p.Glu174Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.E174K	ENST00000329357.5	37	c.520	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.800721	0.00611	.	.	ENSG00000189132	ENST00000329357	T	0.16196	2.36	0.843	-0.501	0.12008	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B	0.24963	0.115	B	0.16722	0.016	T	0.38972	-0.9636	9	0.02654	T	1	.	4.4576	0.11650	0.3836:0.0:0.6164:0.0	.	174	Q8NA70	FA47B_HUMAN	K	174	ENSP00000328307:E174K	ENSP00000328307:E174K	E	+	1	0	FAM47B	34871389	0.202000	0.23423	0.001000	0.08648	0.018000	0.09664	-0.029000	0.12329	-0.236000	0.09753	0.292000	0.19580	GAG	FAM47B	-	NULL	ENSG00000189132		0.607	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	107	0.00	0	G	NM_152631		34961468	34961468	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	missense	61	17.33	13	SNP	0.007	A
FAM46D	169966	genome.wustl.edu	37	X	79698162	79698162	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:79698162G>T	ENST00000308293.5	+	3	363	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	FAM46D_ENST00000538312.1_Missense_Mutation_p.D42Y	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	42										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AAAACCAAAAGACATCATTCA	0.383																																						dbGAP											0													118.0	101.0	107.0					X																	79698162		2202	4298	6500	-	-	-	SO:0001583	missense	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.124G>T	X.37:g.79698162G>T	ENSP00000308575:p.Asp42Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	pfam_DUF1693	p.D42Y	ENST00000308293.5	37	c.124	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120777	0.37436	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.24151	1.87;1.87	4.41	1.61	0.23674	Domain of unknown function DUF1693 (1);	0.057402	0.64402	D	0.000002	T	0.46580	0.1400	M	0.85777	2.775	0.58432	D	0.999997	D	0.63880	0.993	P	0.61477	0.889	T	0.42396	-0.9454	10	0.87932	D	0	-6.4874	8.3707	0.32412	0.0:0.1471:0.5427:0.3102	.	42	Q8NEK8	FA46D_HUMAN	Y	42	ENSP00000443410:D42Y;ENSP00000308575:D42Y	ENSP00000308575:D42Y	D	+	1	0	FAM46D	79584818	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	4.288000	0.59007	0.025000	0.15241	-0.580000	0.04137	GAC	FAM46D	-	pfam_DUF1693	ENSG00000174016		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	282	0.00	0	G	NM_152630		79698162	79698162	+1	no_errors	ENST00000308293	ensembl	human	known	69_37n	missense	161	12.02	22	SNP	1.000	T
FAM49A	81553	genome.wustl.edu	37	2	16745329	16745329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:16745329C>A	ENST00000381323.3	-	5	446	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	FAM49A_ENST00000406434.1_Nonsense_Mutation_p.E76*|FAM49A_ENST00000355549.2_Nonsense_Mutation_p.E76*	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	76						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAGCTTTTTCTTGAAGCTGA	0.398																																						dbGAP											0													111.0	103.0	106.0					2																	16745329		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.226G>T	2.37:g.16745329C>A	ENSP00000370724:p.Glu76*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNZ1|Q53QW2	Nonsense_Mutation	SNP	pfam_DUF1394	p.E76*	ENST00000381323.3	37	c.226	CCDS1688.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.255260	0.97417	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549;ENST00000445605;ENST00000451689	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-18.3273	19.319	0.94229	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000347744:E76X	E	-	1	0	FAM49A	16608810	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.564000	0.82326	2.894000	0.99253	0.655000	0.94253	GAA	FAM49A	-	pfam_DUF1394	ENSG00000197872		0.398	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	283	0.00	0	C	NM_030797		16745329	16745329	-1	no_errors	ENST00000355549	ensembl	human	known	69_37n	nonsense	144	25.00	48	SNP	1.000	A
BRINP2	57795	genome.wustl.edu	37	1	177250076	177250076	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:177250076C>A	ENST00000361539.4	+	8	2076	c.1764C>A	c.(1762-1764)atC>atA	p.I588I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	588					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCATGGCCATCTACGTCAACC	0.557																																						dbGAP											0													53.0	50.0	51.0					1																	177250076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1764C>A	1.37:g.177250076C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.I588	ENST00000361539.4	37	c.1764	CCDS1320.1	1																																																																																			FAM5B	-	NULL	ENSG00000198797		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	181	0.00	0	C	NM_021165		177250076	177250076	+1	no_errors	ENST00000361539	ensembl	human	known	69_37n	silent	109	38.07	67	SNP	1.000	A
BRINP3	339479	genome.wustl.edu	37	1	190250712	190250712	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:190250712G>T	ENST00000367462.3	-	3	636	c.405C>A	c.(403-405)ttC>ttA	p.F135L	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	135	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAGATAGCAAGAAATGTGTCC	0.428																																						dbGAP											0													87.0	87.0	87.0					1																	190250712		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.405C>A	1.37:g.190250712G>T	ENSP00000356432:p.Phe135Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F135L	ENST00000367462.3	37	c.405	CCDS1373.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.67|14.67	2.604073|2.604073	0.46423|0.46423	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000367462|ENST00000445957	D|T	0.84070|0.48522	-1.8|0.81	5.67|5.67	4.75|4.75	0.60458|0.60458	Membrane attack complex component/perforin (MACPF) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.38735|0.38735	-0.9647|-0.9647	10|7	0.17369|0.87932	T|D	0.5|0	.|.	7.7055|7.7055	0.28648|0.28648	0.1736:0.0:0.8264:0.0|0.1736:0.0:0.8264:0.0	.|.	135|.	Q76B58|.	FAM5C_HUMAN|.	L|Y	135|85	ENSP00000356432:F135L|ENSP00000393441:S85Y	ENSP00000356432:F135L|ENSP00000393441:S85Y	F|S	-|-	3|2	2|0	FAM5C|FAM5C	188517335|188517335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.540000|3.540000	0.53611|0.53611	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	TTC|TCT	FAM5C	-	pfam_MACPF,smart_MACPF	ENSG00000162670		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	HGNC	protein_coding	OTTHUMT00000086278.1	131	0.00	0	G	NM_199051		190250712	190250712	-1	no_errors	ENST00000367462	ensembl	human	known	69_37n	missense	85	28.57	34	SNP	1.000	T
FAM65B	9750	genome.wustl.edu	37	6	24825457	24825457	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:24825457T>G	ENST00000259698.4	-	20	3103	c.2928A>C	c.(2926-2928)gaA>gaC	p.E976D	FAM65B_ENST00000538035.1_Missense_Mutation_p.E955D	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	976					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GTCTTACCTTTTCCCTGAAAT	0.388																																						dbGAP											0													109.0	87.0	94.0					6																	24825457		692	1591	2283	-	-	-	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2928A>C	6.37:g.24825457T>G	ENSP00000259698:p.Glu976Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E976D	ENST00000259698.4	37	c.2928	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	T	19.59	3.855368	0.71719	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.29142	1.58;1.58	5.6	3.25	0.37280	Armadillo-like helical (1);Armadillo-type fold (1);	0.299513	0.38436	N	0.001685	T	0.39784	0.1091	M	0.77820	2.39	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.28138	-1.0053	10	0.39692	T	0.17	-26.9705	8.6756	0.34176	0.0:0.2134:0.0:0.7866	.	955;976	F5GX51;Q9Y4F9	.;FA65B_HUMAN	D	976;955	ENSP00000259698:E976D;ENSP00000441138:E955D	ENSP00000259698:E976D	E	-	3	2	FAM65B	24933436	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.651000	0.24873	0.963000	0.38082	0.533000	0.62120	GAA	FAM65B	-	superfamily_ARM-type_fold	ENSG00000111913		0.388	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	158	0.00	0	T			24825457	24825457	-1	no_errors	ENST00000259698	ensembl	human	known	69_37n	missense	146	10.98	18	SNP	1.000	G
FAM65B	9750	genome.wustl.edu	37	6	24873114	24873114	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:24873114G>A	ENST00000259698.4	-	4	506	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	FAM65B_ENST00000540914.1_Missense_Mutation_p.R111C|FAM65B_ENST00000538035.1_Missense_Mutation_p.R140C|FAM65B_ENST00000510784.2_Missense_Mutation_p.R145C|FAM65B_ENST00000378023.4_Missense_Mutation_p.R111C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	111	Involved in cell filopodia formation.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CCTACCAGGCGAGAGTTTCTT	0.408																																						dbGAP											0													86.0	84.0	85.0					6																	24873114		1871	4109	5980	-	-	-	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.331C>T	6.37:g.24873114G>A	ENSP00000259698:p.Arg111Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R111C	ENST00000259698.4	37	c.331	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133519	0.77662	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.00120	-1.2030	10	0.87932	D	0	-22.0033	14.5221	0.67856	0.0:0.0:0.8535:0.1465	.	145;140;111;111	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	C	111;140;111;111;145	ENSP00000259698:R111C;ENSP00000441138:R140C;ENSP00000367262:R111C;ENSP00000438425:R111C;ENSP00000441305:R145C	ENSP00000259698:R111C	R	-	1	0	FAM65B	24981093	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	3.870000	0.56070	2.644000	0.89710	0.563000	0.77884	CGC	FAM65B	-	NULL	ENSG00000111913		0.408	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	53	0.00	0	G			24873114	24873114	-1	no_errors	ENST00000259698	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.992	A
SPATA31D1	389763	genome.wustl.edu	37	9	84607176	84607176	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:84607176C>T	ENST00000344803.2	+	4	1838	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	597					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCCTCTATTCCTGATTAGGA	0.507																																						dbGAP											0													123.0	112.0	116.0					9																	84607176		1912	4123	6035	-	-	-	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1791C>T	9.37:g.84607176C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.F597	ENST00000344803.2	37	c.1791	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	554	0.00	0	C	NM_001001670		84607176	84607176	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	silent	368	12.35	52	SNP	0.018	T
RP11-383M4.6	0	genome.wustl.edu	37	9	84562780	84562780	+	lincRNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:84562780G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ATTAAACATCGAAATTTGGCA	0.458																																						dbGAP											0													95.0	76.0	81.0					9																	84562780		692	1591	2283	-	-	-			0																															9.37:g.84562780G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000585776.1	37	NULL		9																																																																																			FAM75D3	-	-	ENSG00000186788		0.458	RP11-383M4.6-001	KNOWN	basic	lincRNA	FAM75D3	HGNC	lincRNA	OTTHUMT00000453562.1	396	0.00	0	G			84562780	84562780	+1	no_errors	ENST00000334208	ensembl	human	known	69_37n	rna	253	12.15	35	SNP	0.000	A
SPATA31D1	389763	genome.wustl.edu	37	9	84610058	84610058	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:84610058C>A	ENST00000344803.2	+	4	4720	c.4673C>A	c.(4672-4674)aCt>aAt	p.T1558N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1558					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTTTCCTAACTGGACAGAAA	0.473																																						dbGAP											0													14.0	14.0	14.0					9																	84610058		1988	4169	6157	-	-	-	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4673C>A	9.37:g.84610058C>A	ENSP00000341988:p.Thr1558Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T1558N	ENST00000344803.2	37	c.4673	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	8.309	0.821587	0.16678	.	.	ENSG00000214929	ENST00000344803	T	0.05139	3.49	2.41	-4.61	0.03380	.	.	.	.	.	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	P	0.45176	0.852	B	0.32624	0.149	T	0.41858	-0.9485	9	0.51188	T	0.08	0.004	3.5463	0.07829	0.0:0.3037:0.3461:0.3502	.	1558	Q6ZQQ2	F75D1_HUMAN	N	1558	ENSP00000341988:T1558N	ENSP00000341988:T1558N	T	+	2	0	FAM75D1	83799878	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.044000	0.12023	-0.712000	0.04988	-0.670000	0.03821	ACT	FAM75D1	-	NULL	ENSG00000214929		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	47	0.00	0	C	NM_001001670		84610058	84610058	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	missense	38	29.63	16	SNP	0.000	A
FAM78B	149297	genome.wustl.edu	37	1	166135249	166135249	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:166135249G>T	ENST00000338353.3	-	2	826	c.237C>A	c.(235-237)ttC>ttA	p.F79L	RP11-9L18.3_ENST00000451784.1_RNA|FAM78B_ENST00000354422.3_Missense_Mutation_p.F79L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	79										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGGTGTTGAAGAACTCCATCT	0.667																																						dbGAP											0													57.0	52.0	54.0					1																	166135249		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.237C>A	1.37:g.166135249G>T	ENSP00000339681:p.Phe79Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z693	Missense_Mutation	SNP	NULL	p.F79L	ENST00000338353.3	37	c.237	CCDS30931.1	1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628779	0.46944	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	4.29	4.29	0.51040	.	0.049203	0.85682	N	0.000000	T	0.32071	0.0817	L	0.58810	1.83	0.48571	D	0.999678	P	0.37500	0.597	B	0.34590	0.186	T	0.24905	-1.0147	8	0.22706	T	0.39	-13.3216	14.279	0.66199	0.0:0.0:1.0:0.0	.	79	Q5VT40	FA78B_HUMAN	L	79	.	ENSP00000339681:F79L	F	-	3	2	FAM78B	164401873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.853000	0.27777	2.205000	0.71048	0.467000	0.42956	TTC	FAM78B	-	NULL	ENSG00000188859		0.667	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	HGNC	protein_coding	OTTHUMT00000343108.1	27	0.00	0	G	NM_001017961		166135249	166135249	-1	no_errors	ENST00000338353	ensembl	human	known	69_37n	missense	7	30.00	3	SNP	1.000	T
FAM81A	145773	genome.wustl.edu	37	15	59813530	59813530	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:59813530C>T	ENST00000288228.5	+	9	1247	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	354										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CAGGGACCAGCTACAGAAGCA	0.522																																						dbGAP											0													43.0	44.0	44.0					15																	59813530		1928	4145	6073	-	-	-	SO:0001819	synonymous_variant	0				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.1060C>T	15.37:g.59813530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Ferritin/RR-like	p.L354	ENST00000288228.5	37	c.1060	CCDS45269.1	15																																																																																			FAM81A	-	NULL	ENSG00000157470		0.522	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81A	HGNC	protein_coding	OTTHUMT00000415876.1	125	0.00	0	C	NM_152450		59813530	59813530	+1	no_errors	ENST00000288228	ensembl	human	known	69_37n	silent	70	33.64	36	SNP	0.964	T
FAM81B	153643	genome.wustl.edu	37	5	94772574	94772574	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:94772574G>A	ENST00000283357.5	+	7	903	c.857G>A	c.(856-858)gGg>gAg	p.G286E		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	286						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		ATGGTCCAGGGGGATTATCGC	0.398																																						dbGAP											0													81.0	75.0	77.0					5																	94772574		1869	4118	5987	-	-	-	SO:0001583	missense	0				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.857G>A	5.37:g.94772574G>A	ENSP00000283357:p.Gly286Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G286E	ENST00000283357.5	37	c.857	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073351	0.76415	.	.	ENSG00000153347	ENST00000283357	T	0.19250	2.16	5.47	5.47	0.80525	.	0.065562	0.64402	D	0.000009	T	0.34279	0.0892	M	0.71581	2.175	0.36788	D	0.884681	D	0.55605	0.972	P	0.53490	0.727	T	0.31336	-0.9947	10	0.02654	T	1	-8.2188	18.1039	0.89513	0.0:0.0:1.0:0.0	.	286	Q96LP2	FA81B_HUMAN	E	286	ENSP00000283357:G286E	ENSP00000283357:G286E	G	+	2	0	FAM81B	94798330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.183000	0.72002	2.569000	0.86673	0.650000	0.86243	GGG	FAM81B	-	NULL	ENSG00000153347		0.398	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	180	0.00	0	G	NM_152548		94772574	94772574	+1	no_errors	ENST00000283357	ensembl	human	known	69_37n	missense	178	10.95	22	SNP	1.000	A
RMDN2	151393	genome.wustl.edu	37	2	38156642	38156642	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:38156642G>A	ENST00000406384.1	+	2	416	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RMDN2_ENST00000354545.2_Silent_p.Q74Q	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	74						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GGCAACTTCAGATACTGGAGA	0.323																																						dbGAP											0													113.0	96.0	101.0					2																	38156642		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.222G>A	2.37:g.38156642G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Silent	SNP	NULL	p.Q74	ENST00000406384.1	37	c.222	CCDS54351.1	2																																																																																			FAM82A1	-	NULL	ENSG00000115841		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	85	0.00	0	G	NM_144713		38156642	38156642	+1	no_errors	ENST00000354545	ensembl	human	known	69_37n	silent	52	14.75	9	SNP	0.998	A
RMDN2	151393	genome.wustl.edu	37	2	38179047	38179047	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:38179047G>A	ENST00000406384.1	+	3	646				RMDN2_ENST00000402091.3_Missense_Mutation_p.G230E|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Missense_Mutation_p.G230E|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.G230E	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											CAACAAAATGGAATTGCCAAT	0.398																																						dbGAP											0													125.0	126.0	126.0					2																	38179047		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.453-22136G>A	2.37:g.38179047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.G230E	ENST00000406384.1	37	c.689	CCDS54351.1	2	.	.	.	.	.	.	.	.	.	.	G	3.719	-0.057931	0.07317	.	.	ENSG00000115841	ENST00000407257;ENST00000234195;ENST00000402091	T;T	0.50813	0.73;0.73	3.9	-5.81	0.02340	.	4.111420	0.00559	N	0.000272	T	0.29256	0.0728	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.17722	0.019	T	0.33394	-0.9870	10	0.66056	D	0.02	-9.9532	7.8323	0.29349	0.7062:0.0:0.1581:0.1357	.	230	Q96LZ7-2	.	E	230	ENSP00000385049:G230E;ENSP00000234195:G230E	ENSP00000234195:G230E	G	+	2	0	FAM82A1	38032551	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-0.806000	0.04525	-1.281000	0.02399	-0.136000	0.14681	GGA	FAM82A1	-	NULL	ENSG00000115841		0.398	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	266	0.00	0	G	NM_144713		38179047	38179047	+1	no_errors	ENST00000234195	ensembl	human	known	69_37n	missense	171	22.42	50	SNP	0.000	A
FAM83B	222584	genome.wustl.edu	37	6	54804590	54804590	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:54804590G>T	ENST00000306858.7	+	5	937	c.821G>T	c.(820-822)aGa>aTa	p.R274I		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	274										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAGAATTTAGAACTCTCTAT	0.423																																						dbGAP											0													100.0	99.0	100.0					6																	54804590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.821G>T	6.37:g.54804590G>T	ENSP00000304078:p.Arg274Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.R274I	ENST00000306858.7	37	c.821	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769605	0.69992	.	.	ENSG00000168143	ENST00000306858	T	0.16457	2.34	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.35998	0.0951	M	0.88241	2.94	0.80722	D	1	D	0.52996	0.957	P	0.59487	0.858	T	0.50709	-0.8796	10	0.72032	D	0.01	-16.5688	16.5479	0.84454	0.0:0.1308:0.8692:0.0	.	274	Q5T0W9	FA83B_HUMAN	I	274	ENSP00000304078:R274I	ENSP00000304078:R274I	R	+	2	0	FAM83B	54912549	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.598000	0.82745	1.401000	0.46761	0.591000	0.81541	AGA	FAM83B	-	pfam_DUF1669	ENSG00000168143		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	291	0.00	0	G	XM_294139		54804590	54804590	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	300	14.04	49	SNP	1.000	T
FAM83B	222584	genome.wustl.edu	37	6	54805725	54805725	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:54805725G>T	ENST00000306858.7	+	5	2072	c.1956G>T	c.(1954-1956)aaG>aaT	p.K652N	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	652										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AAAATCTAAAGAATCAACAGA	0.333																																						dbGAP											0													54.0	57.0	56.0					6																	54805725		2200	4300	6500	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1956G>T	6.37:g.54805725G>T	ENSP00000304078:p.Lys652Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.K652N	ENST00000306858.7	37	c.1956	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	G	8.389	0.839230	0.16891	.	.	ENSG00000168143	ENST00000306858	T	0.39787	1.06	5.55	1.53	0.23141	.	0.826156	0.11030	N	0.607374	T	0.13157	0.0319	L	0.38531	1.155	0.09310	N	1	B	0.21753	0.06	B	0.17722	0.019	T	0.23797	-1.0178	10	0.45353	T	0.12	-17.8201	5.6246	0.17475	0.3468:0.0:0.523:0.1302	.	652	Q5T0W9	FA83B_HUMAN	N	652	ENSP00000304078:K652N	ENSP00000304078:K652N	K	+	3	2	FAM83B	54913684	0.974000	0.33945	0.018000	0.16275	0.959000	0.62525	0.806000	0.27126	0.801000	0.34066	0.655000	0.94253	AAG	FAM83B	-	NULL	ENSG00000168143		0.333	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	96	0.00	0	G	XM_294139		54805725	54805725	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	0.027	T
FAM83B	222584	genome.wustl.edu	37	6	54806134	54806134	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:54806134C>A	ENST00000306858.7	+	5	2481	c.2365C>A	c.(2365-2367)Cta>Ata	p.L789I	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	789										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAGAAAATCTATCCAAAAA	0.368																																						dbGAP											0													44.0	48.0	47.0					6																	54806134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2365C>A	6.37:g.54806134C>A	ENSP00000304078:p.Leu789Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	pfam_DUF1669	p.L789I	ENST00000306858.7	37	c.2365	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020269	0.19433	.	.	ENSG00000168143	ENST00000306858	T	0.08282	3.11	5.63	2.9	0.33743	.	0.118459	0.38436	N	0.001697	T	0.02156	0.0067	L	0.55103	1.725	0.19945	N	0.999948	B	0.25441	0.126	B	0.23275	0.045	T	0.43925	-0.9361	10	0.26408	T	0.33	-14.4518	3.1707	0.06551	0.1811:0.4581:0.0:0.3608	.	789	Q5T0W9	FA83B_HUMAN	I	789	ENSP00000304078:L789I	ENSP00000304078:L789I	L	+	1	2	FAM83B	54914093	0.995000	0.38212	0.999000	0.59377	0.995000	0.86356	0.791000	0.26915	0.750000	0.32877	-0.140000	0.14226	CTA	FAM83B	-	NULL	ENSG00000168143		0.368	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	135	0.00	0	C	XM_294139		54806134	54806134	+1	no_errors	ENST00000306858	ensembl	human	known	69_37n	missense	116	28.83	47	SNP	0.305	A
FAM92A1	137392	genome.wustl.edu	37	8	94713462	94713462	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:94713462A>C	ENST00000518322.1	+	2	178	c.37A>C	c.(37-39)Acg>Ccg	p.T13P	FAM92A1_ENST00000522324.1_Missense_Mutation_p.T13P|LINC00535_ENST00000501400.1_RNA|FAM92A1_ENST00000423990.2_Missense_Mutation_p.T13P	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	13										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GAACGCTCAAACGAAACAACT	0.453																																						dbGAP											0													56.0	52.0	53.0					8																	94713462		1899	4129	6028	-	-	-	SO:0001583	missense	0				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.37A>C	8.37:g.94713462A>C	ENSP00000429367:p.Thr13Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Missense_Mutation	SNP	pfam_FAM92	p.T13P	ENST00000518322.1	37	c.37	CCDS47892.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.051224|4.051224	0.75960|0.75960	.|.	.|.	ENSG00000188343|ENSG00000188343	ENST00000523453|ENST00000518322;ENST00000522324;ENST00000522803;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000540007	.|T;T;T;T	.|0.59772	.|0.24;0.77;0.77;0.77	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73118|0.73118	0.3546|0.3546	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.70227	.|0.968	T|T	0.76661|0.76661	-0.2877|-0.2877	5|10	.|0.62326	.|D	.|0.03	-9.0711|-9.0711	14.0683|14.0683	0.64844|0.64844	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|13	.|A1XBS5	.|F92A1_HUMAN	T|P	23|13	.|ENSP00000429367:T13P;ENSP00000430069:T13P;ENSP00000428739:T13P;ENSP00000401774:T13P	.|ENSP00000341363:T13P	N|T	+|+	2|1	0|0	FAM92A1|FAM92A1	94782638|94782638	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.841000|0.841000	0.47740|0.47740	7.335000|7.335000	0.79234|0.79234	1.968000|1.968000	0.57251|0.57251	0.533000|0.533000	0.62120|0.62120	AAC|ACG	FAM92A1	-	pfam_FAM92	ENSG00000188343		0.453	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92A1	HGNC	protein_coding	OTTHUMT00000377890.4	100	0.00	0	A	NM_145269		94713462	94713462	+1	no_errors	ENST00000518322	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	1.000	C
FAM91A1	157769	genome.wustl.edu	37	8	124787444	124787444	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:124787444G>A	ENST00000334705.7	+	3	461	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R72Q	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	72								p.R72L(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGTACAGCCGAGATCATCTC	0.388																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											107.0	97.0	100.0					8																	124787444		1922	4129	6051	-	-	-	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.215G>A	8.37:g.124787444G>A	ENSP00000335082:p.Arg72Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.R72Q	ENST00000334705.7	37	c.215	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426350	0.83667	.	.	ENSG00000176853	ENST00000521166;ENST00000334705;ENST00000395537	T;T	0.47177	0.85;1.43	5.33	5.33	0.75918	.	0.000000	0.64402	U	0.000002	T	0.67135	0.2861	M	0.62016	1.91	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.65187	-0.6229	10	0.40728	T	0.16	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	72;72	E7ER68;Q658Y4	.;F91A1_HUMAN	Q	72	ENSP00000429491:R72Q;ENSP00000335082:R72Q	ENSP00000335082:R72Q	R	+	2	0	FAM91A1	124856625	1.000000	0.71417	0.989000	0.46669	0.625000	0.37756	7.799000	0.85936	2.495000	0.84180	0.655000	0.94253	CGA	FAM91A1	-	NULL	ENSG00000176853		0.388	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	218	0.00	0	G	NM_144963		124787444	124787444	+1	no_errors	ENST00000334705	ensembl	human	known	69_37n	missense	153	15.93	29	SNP	1.000	A
FAM92A1P2	403315	genome.wustl.edu	37	4	183959018	183959018	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:183959018C>A	ENST00000502308.1	+	0	201					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		TGTGCCAAGTCTTTGCTGCCT	0.488																																						dbGAP											0																																										-	-	-			0			BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959018C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000502308.1	37	NULL		4																																																																																			FAM92A1P2	-	-	ENSG00000230219		0.488	FAM92A1P2-002	KNOWN	basic	processed_transcript	FAM92A1P2	HGNC	pseudogene	OTTHUMT00000361814.1	49	0.00	0	C			183959018	183959018	+1	no_errors	ENST00000502308	ensembl	human	known	69_37n	rna	22	24.14	7	SNP	1.000	A
FAM98A	25940	genome.wustl.edu	37	2	33810694	33810694	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:33810694G>T	ENST00000238823.8	-	7	931	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_Missense_Mutation_p.S264Y|FAM98A_ENST00000441530.2_Missense_Mutation_p.S69Y			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	265							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ATGGGCAACAGAAATAGTAGT	0.418																																						dbGAP											0													85.0	88.0	87.0					2																	33810694		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.791C>A	2.37:g.33810694G>T	ENSP00000238823:p.Ser264Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.S264Y	ENST00000238823.8	37	c.791	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211309	0.58343	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000441530	T;T;T	0.48522	0.81;0.81;0.81	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.76838	2.35	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	D;D;D;D	0.81914	0.995;0.979;0.991;0.975	T	0.74506	-0.3643	10	0.87932	D	0	-3.6947	19.459	0.94908	0.0:0.0:1.0:0.0	.	265;95;264;102	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	Y	264;265;264;69	ENSP00000238823:S264Y;ENSP00000384711:S264Y;ENSP00000408716:S69Y	ENSP00000238823:S264Y	S	-	2	0	FAM98A	33664198	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.314000	0.78988	2.681000	0.91329	0.313000	0.20887	TCT	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.418	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	240	0.00	0	G	NM_015475		33810694	33810694	-1	no_errors	ENST00000238823	ensembl	human	known	69_37n	missense	160	13.04	24	SNP	1.000	T
FAM98B	283742	genome.wustl.edu	37	15	38773671	38773671	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:38773671C>A	ENST00000491535.1	+	7	916	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	FAM98B_ENST00000397609.2_Intron	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	303						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GTTGGTGTTTCTTTCAGTACA	0.368																																						dbGAP											0													159.0	148.0	152.0					15																	38773671		2200	4297	6497	-	-	-	SO:0001583	missense	0				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.908C>A	15.37:g.38773671C>A	ENSP00000453166:p.Ser303Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUW5|Q8N935	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.S303Y	ENST00000491535.1	37	c.908	CCDS42015.1	15	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724711	0.30593	.	.	ENSG00000171262	ENST00000305752	.	.	.	4.31	1.42	0.22433	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.27625	0.183	B	0.24541	0.054	T	0.24693	-1.0153	7	.	.	.	.	8.9323	0.35677	0.0:0.6619:0.0:0.3381	.	303	Q52LJ0	FA98B_HUMAN	Y	303	.	.	S	+	2	0	FAM98B	36560963	0.000000	0.05858	0.006000	0.13384	0.652000	0.38707	0.203000	0.17315	0.571000	0.29365	0.467000	0.42956	TCT	FAM98B	-	NULL	ENSG00000171262		0.368	FAM98B-002	KNOWN	basic|CCDS	protein_coding	FAM98B	HGNC	protein_coding	OTTHUMT00000252071.2	193	0.00	0	C	NM_173611		38773671	38773671	+1	no_errors	ENST00000491535	ensembl	human	known	69_37n	missense	125	26.90	46	SNP	0.000	A
FANCB	2187	genome.wustl.edu	37	X	14862651	14862651	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:14862651G>A	ENST00000324138.3	-	8	2292	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	FANCB_ENST00000398334.1_Silent_p.F713F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	713					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.F713F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAATCCCTTCGAATGGTGTTC	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											69.0	67.0	68.0					X																	14862651		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2139C>T	X.37:g.14862651G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	NULL	p.F713	ENST00000324138.3	37	c.2139	CCDS14161.1	X																																																																																			FANCB	-	NULL	ENSG00000181544		0.368	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	65	0.00	0	G	NM_152633		14862651	14862651	-1	no_errors	ENST00000324138	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.998	A
FANCC	2176	genome.wustl.edu	37	9	97873874	97873874	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:97873874G>A	ENST00000289081.3	-	13	1454	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	FANCC_ENST00000375305.1_Silent_p.F400F|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000464653.1_5'Flank	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	400					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CCCATCCTCCGAAGTGAATGA	0.567			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													112.0	107.0	109.0					9																	97873874		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1200C>T	9.37:g.97873874G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALR8	Silent	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.F400	ENST00000289081.3	37	c.1200	CCDS35071.1	9																																																																																			FANCC	-	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	ENSG00000158169		0.567	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	99	0.99	1	G	NM_000136		97873874	97873874	-1	no_errors	ENST00000289081	ensembl	human	known	69_37n	silent	55	12.70	8	SNP	1.000	A
FANCI	55215	genome.wustl.edu	37	15	89828358	89828358	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:89828358C>T	ENST00000310775.7	+	18	1816	c.1730C>T	c.(1729-1731)tCt>tTt	p.S577F	FANCI_ENST00000300027.8_Missense_Mutation_p.S577F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	577					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CATTACAATTCTGTCGCCAAT	0.433								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													217.0	188.0	198.0					15																	89828358		2200	4299	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.1730C>T	15.37:g.89828358C>T	ENSP00000310842:p.Ser577Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.S577F	ENST00000310775.7	37	c.1730	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805429	0.90623	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.32023	1.47;1.47;1.47	6.08	6.08	0.98989	.	0.335668	0.36374	N	0.002628	T	0.49626	0.1568	L	0.53249	1.67	0.80722	D	1	P;D;D	0.55605	0.951;0.972;0.972	P;P;P	0.57057	0.812;0.739;0.812	T	0.37056	-0.9722	10	0.66056	D	0.02	-8.6538	20.6634	0.99662	0.0:1.0:0.0:0.0	.	577;577;577	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	F	577	ENSP00000300027:S577F;ENSP00000310842:S577F;ENSP00000413249:S577F	ENSP00000300027:S577F	S	+	2	0	FANCI	87629362	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	TCT	FANCI	-	NULL	ENSG00000140525		0.433	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	196	0.00	0	C	NM_018193		89828358	89828358	+1	no_errors	ENST00000310775	ensembl	human	known	69_37n	missense	151	14.61	26	SNP	1.000	T
FANCM	57697	genome.wustl.edu	37	14	45665457	45665457	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:45665457C>A	ENST00000267430.5	+	21	5508	c.5423C>A	c.(5422-5424)tCt>tAt	p.S1808Y	FANCM_ENST00000542564.2_Missense_Mutation_p.S1782Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1808	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACACATACTTCTCTTAGACTT	0.423								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													132.0	129.0	130.0					14																	45665457		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5423C>A	14.37:g.45665457C>A	ENSP00000267430:p.Ser1808Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1808Y	ENST00000267430.5	37	c.5423	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.59|11.59	1.683775|1.683775	0.29872|0.29872	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.21361	.|2.61;2.61;2.01	4.75|4.75	2.91|2.91	0.33838|0.33838	.|.	.|0.812426	.|0.11089	.|N	.|0.601003	T|T	0.22742|0.22742	0.0549|0.0549	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|B;B	.|0.15473	.|0.013;0.013	.|B;B	.|0.14023	.|0.01;0.01	T|T	0.21861|0.21861	-1.0233|-1.0233	5|10	.|0.72032	.|D	.|0.01	.|.	9.1254|9.1254	0.36812|0.36812	0.1463:0.776:0.0:0.0777|0.1463:0.776:0.0:0.0777	.|.	.|1782;1808	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	L|Y	775|1808;1782;1324	.|ENSP00000267430:S1808Y;ENSP00000442493:S1782Y;ENSP00000452033:S1324Y	.|ENSP00000267430:S1808Y	F|S	+|+	3|2	2|0	FANCM|FANCM	44735207|44735207	0.009000|0.009000	0.17119|0.17119	0.001000|0.001000	0.08648|0.08648	0.336000|0.336000	0.28762|0.28762	1.934000|1.934000	0.40163|0.40163	0.595000|0.595000	0.29777|0.29777	0.563000|0.563000	0.77884|0.77884	TTC|TCT	FANCM	-	NULL	ENSG00000187790		0.423	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	124	0.00	0	C	XM_048128		45665457	45665457	+1	no_errors	ENST00000267430	ensembl	human	known	69_37n	missense	100	18.03	22	SNP	0.013	A
FARS2	10667	genome.wustl.edu	37	6	5613443	5613443	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:5613443C>A	ENST00000324331.6	+	6	1443	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L	FARS2_ENST00000274680.4_Missense_Mutation_p.F369L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	369	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATATTTCATTCTGGTTGCCCT	0.368																																						dbGAP											0													146.0	137.0	140.0					6																	5613443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1107C>A	6.37:g.5613443C>A	ENSP00000316335:p.Phe369Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.F369L	ENST00000324331.6	37	c.1107	CCDS4494.1	6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282930	0.80692	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.74209	-0.82;-0.82	5.53	5.53	0.82687	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.000000	0.85682	D	0.000000	D	0.85026	0.5603	M	0.79123	2.44	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.86448	0.1771	10	0.87932	D	0	-0.1992	18.4818	0.90815	0.0:1.0:0.0:0.0	.	369	O95363	SYFM_HUMAN	L	369	ENSP00000274680:F369L;ENSP00000316335:F369L	ENSP00000274680:F369L	F	+	3	2	FARS2	5558442	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.591000	0.23969	2.605000	0.88082	0.655000	0.94253	TTC	FARS2	-	pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,tigrfam_Phe-tRNA-synth_IIc_mito	ENSG00000145982		0.368	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	573	0.00	0	C	NM_006567		5613443	5613443	+1	no_errors	ENST00000274680	ensembl	human	known	69_37n	missense	446	10.60	53	SNP	1.000	A
FASTKD1	79675	genome.wustl.edu	37	2	170416902	170416902	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170416902C>A	ENST00000453153.2	-	5	1312	c.966G>T	c.(964-966)aaG>aaT	p.K322N	FASTKD1_ENST00000453929.2_Missense_Mutation_p.K322N	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	322					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTTACTGTTTCTTTTCTTCAG	0.378																																						dbGAP											0													82.0	91.0	88.0					2																	170416902		2178	4295	6473	-	-	-	SO:0001583	missense	0			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.966G>T	2.37:g.170416902C>A	ENSP00000400513:p.Lys322Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.K322N	ENST00000453153.2	37	c.966	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717188	0.68844	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.23348	1.91;1.92	5.44	2.67	0.31697	.	0.419447	0.28914	N	0.013732	T	0.40094	0.1103	M	0.71581	2.175	0.34195	D	0.672537	D;D;D	0.63046	0.986;0.992;0.986	P;P;P	0.61397	0.776;0.888;0.776	T	0.51872	-0.8650	10	0.49607	T	0.09	-0.0495	5.9023	0.18974	0.0:0.5432:0.0:0.4568	.	299;322;322	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	N	322	ENSP00000400513:K322N;ENSP00000403229:K322N	ENSP00000400513:K322N	K	-	3	2	FASTKD1	170125148	0.130000	0.22417	0.998000	0.56505	0.988000	0.76386	-0.253000	0.08794	0.670000	0.31165	0.650000	0.86243	AAG	FASTKD1	-	NULL	ENSG00000138399		0.378	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	54	0.00	0	C	NM_024622		170416902	170416902	-1	no_errors	ENST00000453153	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.999	A
FAT1	2195	genome.wustl.edu	37	4	187541295	187541295	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:187541295C>T	ENST00000441802.2	-	10	6654	c.6445G>A	c.(6445-6447)Gaa>Aaa	p.E2149K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2149	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAAGATATTCTTTATTTAAG	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													64.0	62.0	63.0					4																	187541295		1857	4100	5957	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6445G>A	4.37:g.187541295C>T	ENSP00000406229:p.Glu2149Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E2149K	ENST00000441802.2	37	c.6445	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795876	0.50208	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.52526	0.66	5.05	4.2	0.49525	Cadherin (4);Cadherin-like (1);	0.103397	0.64402	D	0.000004	T	0.54854	0.1884	M	0.78049	2.395	0.80722	D	1	B	0.30211	0.273	B	0.37198	0.243	T	0.57195	-0.7853	10	0.39692	T	0.17	.	15.5787	0.76414	0.0:0.8618:0.1382:0.0	.	2149	Q14517	FAT1_HUMAN	K	2149;2151	ENSP00000406229:E2149K	ENSP00000260147:E2151K	E	-	1	0	FAT1	187778289	0.999000	0.42202	0.981000	0.43875	0.541000	0.35023	3.117000	0.50407	1.322000	0.45245	0.655000	0.94253	GAA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	86	0.00	0	C	NM_005245		187541295	187541295	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	T
FAT1	2195	genome.wustl.edu	37	4	187629328	187629328	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:187629328C>T	ENST00000441802.2	-	2	1863	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	552	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAAGGACTTCGACTTCCCGG	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													67.0	64.0	65.0					4																	187629328		1905	4124	6029	-	-	-	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1654G>A	4.37:g.187629328C>T	ENSP00000406229:p.Glu552Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E552K	ENST00000441802.2	37	c.1654	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864076	0.51482	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.53640	0.61	5.58	4.74	0.60224	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.42686	1.345	0.80722	D	1	D	0.52996	0.957	P	0.51945	0.685	T	0.41251	-0.9519	10	0.15952	T	0.53	.	16.7888	0.85582	0.0:0.8713:0.1287:0.0	.	552	Q14517	FAT1_HUMAN	K	552	ENSP00000406229:E552K	ENSP00000260147:E552K	E	-	1	0	FAT1	187866322	1.000000	0.71417	0.770000	0.31555	0.006000	0.05464	5.932000	0.70121	1.594000	0.50039	-0.150000	0.13652	GAA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	47	0.00	0	C	NM_005245		187629328	187629328	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	T
FAT2	2196	genome.wustl.edu	37	5	150922149	150922149	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:150922149G>A	ENST00000261800.5	-	9	8551	c.8539C>T	c.(8539-8541)Ctc>Ttc	p.L2847F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2847	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGCAAAGAGCTCATGGACA	0.512																																						dbGAP											0													126.0	113.0	118.0					5																	150922149		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8539C>T	5.37:g.150922149G>A	ENSP00000261800:p.Leu2847Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L2847F	ENST00000261800.5	37	c.8539	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610201	0.46527	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	6.05	6.05	0.98169	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000043	T	0.59335	0.2186	L	0.41124	1.26	0.44000	D	0.996703	D	0.71674	0.998	D	0.70016	0.967	T	0.44019	-0.9355	10	0.09843	T	0.71	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	2847	Q9NYQ8	FAT2_HUMAN	F	2847	ENSP00000261800:L2847F	ENSP00000261800:L2847F	L	-	1	0	FAT2	150902342	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.943000	0.40253	2.878000	0.98634	0.650000	0.86243	CTC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	208	0.00	0	G	NM_001447		150922149	150922149	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	159	13.51	25	SNP	0.951	A
FAT2	2196	genome.wustl.edu	37	5	150931082	150931082	+	Silent	SNP	C	C	T	rs55719915	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:150931082C>T	ENST00000261800.5	-	6	4254	c.4242G>A	c.(4240-4242)tcG>tcA	p.S1414S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1414	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTATAGTTCGACCTTCTCC	0.537																																						dbGAP											0													175.0	148.0	157.0					5																	150931082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4242G>A	5.37:g.150931082C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1414	ENST00000261800.5	37	c.4242	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	238	0.00	0	C	NM_001447		150931082	150931082	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	silent	174	11.68	23	SNP	0.000	T
FAT3	120114	genome.wustl.edu	37	11	92592427	92592427	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:92592427G>A	ENST00000298047.6	+	20	11614	c.11597G>A	c.(11596-11598)cGa>cAa	p.R3866Q	FAT3_ENST00000525166.1_Missense_Mutation_p.R3716Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R201Q|FAT3_ENST00000409404.2_Missense_Mutation_p.R3866Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3866	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R441Q(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCGTCTTCGAACACTGCAA	0.398										TCGA Ovarian(4;0.039)																												dbGAP											1	Substitution - Missense(1)	pancreas(1)											84.0	80.0	81.0					11																	92592427		1852	4094	5946	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11597G>A	11.37:g.92592427G>A	ENSP00000298047:p.Arg3866Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.R3866Q	ENST00000298047.6	37	c.11597		11	.	.	.	.	.	.	.	.	.	.	G	34	5.387663	0.95988	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.87993	0.6318	M	0.86178	2.8	0.80722	D	1	D;P	0.89917	1.0;0.801	D;P	0.87578	0.998;0.59	D	0.88870	0.3332	9	0.54805	T	0.06	.	18.9877	0.92779	0.0:0.0:1.0:0.0	.	3866;3866	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	3866;3866;3716;201	ENSP00000298047:R3866Q;ENSP00000387040:R3866Q;ENSP00000432586:R3716Q;ENSP00000436399:R201Q	ENSP00000298047:R3866Q	R	+	2	0	FAT3	92232075	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.338000	0.96553	2.580000	0.87095	0.655000	0.94253	CGA	FAT3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000165323		0.398	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		249	0.00	0	G	NM_001008781		92592427	92592427	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	139	12.58	20	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92600122	92600122	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:92600122C>T	ENST00000298047.6	+	21	11891	c.11874C>T	c.(11872-11874)ttC>ttT	p.F3958F	FAT3_ENST00000525166.1_Silent_p.F3808F|FAT3_ENST00000533797.1_Silent_p.F293F|FAT3_ENST00000409404.2_Silent_p.F3958F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3958	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCATCTACTTCGGCGCCCTGG	0.627										TCGA Ovarian(4;0.039)																												dbGAP											0													27.0	30.0	29.0					11																	92600122		1936	4124	6060	-	-	-	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11874C>T	11.37:g.92600122C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.F3958	ENST00000298047.6	37	c.11874		11																																																																																			FAT3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000165323		0.627	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		40	0.00	0	C	NM_001008781		92600122	92600122	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	silent	19	20.83	5	SNP	0.985	T
FAT4	79633	genome.wustl.edu	37	4	126238290	126238290	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:126238290G>A	ENST00000394329.3	+	1	737	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACTGTGCAAGACATTAATGA	0.617											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													28.0	33.0	31.0					4																	126238290		2020	4168	6188	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.724G>A	4.37:g.126238290G>A	ENSP00000377862:p.Asp242Asn	Somatic	1548	WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D242N	ENST00000394329.3	37	c.724	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711418	0.48517	.	.	ENSG00000196159	ENST00000394329	T	0.75050	-0.9	5.13	5.13	0.70059	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36101	U	0.002792	D	0.85279	0.5660	M	0.90198	3.095	0.80722	D	1	P	0.46706	0.883	P	0.52189	0.692	D	0.87534	0.2454	10	0.49607	T	0.09	.	16.7817	0.85564	0.0:0.0:1.0:0.0	.	242	Q6V0I7	FAT4_HUMAN	N	242	ENSP00000377862:D242N	ENSP00000377862:D242N	D	+	1	0	FAT4	126457740	1.000000	0.71417	0.992000	0.48379	0.013000	0.08279	9.662000	0.98603	2.364000	0.80123	0.655000	0.94253	GAC	FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	46	0.00	0	G	NM_024582		126238290	126238290	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	9	28.57	4	SNP	1.000	A
FAT4	79633	genome.wustl.edu	37	4	126238998	126238998	+	Missense_Mutation	SNP	C	C	A	rs201892240		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:126238998C>A	ENST00000394329.3	+	1	1445	c.1432C>A	c.(1432-1434)Caa>Aaa	p.Q478K		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTTCACAGCAAGTGTACAG	0.562											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													44.0	48.0	46.0					4																	126238998		2187	4294	6481	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1432C>A	4.37:g.126238998C>A	ENSP00000377862:p.Gln478Lys	Somatic	1548	WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q478K	ENST00000394329.3	37	c.1432	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	6.146	0.395095	0.11638	.	.	ENSG00000196159	ENST00000394329	T	0.59638	0.25	4.66	3.8	0.43715	Cadherin (3);Cadherin-like (1);	0.562217	0.13267	U	0.400836	T	0.36826	0.0981	N	0.16567	0.415	0.80722	D	1	B	0.17465	0.022	B	0.15052	0.012	T	0.15838	-1.0423	10	0.15499	T	0.54	.	8.5235	0.33291	0.0:0.8059:0.0:0.1941	.	478	Q6V0I7	FAT4_HUMAN	K	478	ENSP00000377862:Q478K	ENSP00000377862:Q478K	Q	+	1	0	FAT4	126458448	0.931000	0.31567	1.000000	0.80357	0.998000	0.95712	1.093000	0.30939	2.419000	0.82065	0.561000	0.74099	CAA	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000196159		0.562	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	48	0.00	0	C	NM_024582		126238998	126238998	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.991	A
FAT4	79633	genome.wustl.edu	37	4	126328170	126328170	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:126328170C>T	ENST00000394329.3	+	3	5456	c.5443C>T	c.(5443-5445)Cgt>Tgt	p.R1815C	FAT4_ENST00000335110.5_Missense_Mutation_p.R113C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1815	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1815C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGCTAGTTCGTGCTGATGA	0.468																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											158.0	146.0	150.0					4																	126328170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5443C>T	4.37:g.126328170C>T	ENSP00000377862:p.Arg1815Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R1815C	ENST00000394329.3	37	c.5443	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019426	0.93462	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.35124	U	0.003435	T	0.13457	0.0326	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00217	-1.1909	10	0.59425	D	0.04	.	19.484	0.95022	0.0:1.0:0.0:0.0	.	113;1815	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	C	1815;113	ENSP00000377862:R1815C;ENSP00000335169:R113C	ENSP00000335169:R113C	R	+	1	0	FAT4	126547620	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.428000	0.80296	2.669000	0.90835	0.650000	0.86243	CGT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	119	0.00	0	C	NM_024582		126328170	126328170	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	46	31.34	21	SNP	1.000	T
FBLN2	2199	genome.wustl.edu	37	3	13612393	13612393	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:13612393A>G	ENST00000295760.7	+	2	607	c.538A>G	c.(538-540)Aac>Gac	p.N180D	FBLN2_ENST00000492059.1_Missense_Mutation_p.N180D|FBLN2_ENST00000535798.1_Missense_Mutation_p.N206D|FBLN2_ENST00000404922.3_Missense_Mutation_p.N180D	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	180	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TTGCCACGGGAACTTCTCAGA	0.667																																						dbGAP											0													24.0	28.0	27.0					3																	13612393		2113	4222	6335	-	-	-	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.538A>G	3.37:g.13612393A>G	ENSP00000295760:p.Asn180Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.N180D	ENST00000295760.7	37	c.538	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452670	0.43531	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79845	-1.31;-1.25;-1.23;-1.25	5.25	4.09	0.47781	.	0.323196	0.29638	N	0.011594	T	0.77631	0.4159	N	0.16478	0.41	0.09310	N	1	P;D;D	0.59767	0.872;0.986;0.986	B;P;P	0.58520	0.321;0.84;0.84	T	0.69665	-0.5084	10	0.59425	D	0.04	.	10.9379	0.47255	0.926:0.0:0.074:0.0	.	180;180;206	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	D	206;180;180;180	ENSP00000445705:N206D;ENSP00000384169:N180D;ENSP00000295760:N180D;ENSP00000420042:N180D	ENSP00000295760:N180D	N	+	1	0	FBLN2	13587393	0.528000	0.26314	0.174000	0.22961	0.542000	0.35054	2.693000	0.47027	0.852000	0.35287	0.456000	0.33151	AAC	FBLN2	-	NULL	ENSG00000163520		0.667	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	20	0.00	0	A	NM_001004019		13612393	13612393	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.009	G
FBXL5	26234	genome.wustl.edu	37	4	15642442	15642442	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:15642442T>G	ENST00000341285.3	-	3	489	c.365A>C	c.(364-366)gAt>gCt	p.D122A	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Missense_Mutation_p.D105A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	122	Hemerythrin-like.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGGAAGAAAATCTCTTGTAAA	0.279																																						dbGAP											0													71.0	80.0	77.0					4																	15642442		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.365A>C	4.37:g.15642442T>G	ENSP00000344866:p.Asp122Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.D122A	ENST00000341285.3	37	c.365	CCDS3415.1	4	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780098	0.90195	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000512066;ENST00000503196;ENST00000509314;ENST00000510802	T;T	0.36520	1.25;1.27	5.73	5.73	0.89815	.	0.043623	0.85682	D	0.000000	T	0.49949	0.1587	L	0.47716	1.5	0.80722	D	1	D;D	0.61080	0.986;0.989	P;P	0.60236	0.797;0.871	T	0.50964	-0.8765	10	0.72032	D	0.01	-19.7364	14.6018	0.68445	0.0:0.0:0.0:1.0	.	105;122	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	A	122;105;84;67;67;67	ENSP00000344866:D122A;ENSP00000408679:D105A	ENSP00000344866:D122A	D	-	2	0	FBXL5	15251540	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.708000	0.84633	2.190000	0.69967	0.455000	0.32223	GAT	FBXL5	-	NULL	ENSG00000118564		0.279	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	241	0.00	0	T			15642442	15642442	-1	no_errors	ENST00000341285	ensembl	human	known	69_37n	missense	112	28.03	44	SNP	1.000	G
FBXO15	201456	genome.wustl.edu	37	18	71790623	71790623	+	Missense_Mutation	SNP	C	C	T	rs549233857		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:71790623C>T	ENST00000419743.2	-	8	1197	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297H	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GAAGAGATTGCGAAATGTACC	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15389	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													75.0	75.0	75.0					18																	71790623		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1118G>A	18.37:g.71790623C>T	ENSP00000393154:p.Arg373His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KST3	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R373H	ENST00000419743.2	37	c.1118	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	C	3.122	-0.180247	0.06380	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.44881	0.91;0.91	5.45	-2.32	0.06745	.	0.718217	0.13850	N	0.358421	T	0.23133	0.0559	N	0.25426	0.745	0.09310	N	1	B;B	0.18968	0.032;0.017	B;B	0.10450	0.005;0.002	T	0.16600	-1.0397	10	0.24483	T	0.36	-24.4827	6.6595	0.23007	0.0:0.4029:0.1209:0.4762	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	H	297;373	ENSP00000269500:R297H;ENSP00000393154:R373H	ENSP00000269500:R297H	R	-	2	0	FBXO15	69941603	0.012000	0.17670	0.002000	0.10522	0.005000	0.04900	-0.600000	0.05693	-0.572000	0.06006	-0.345000	0.07892	CGC	FBXO15	-	NULL	ENSG00000141665		0.428	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	183	0.00	0	C	NM_152676		71790623	71790623	-1	no_errors	ENST00000419743	ensembl	human	known	69_37n	missense	113	23.49	35	SNP	0.031	T
FBXO34	55030	genome.wustl.edu	37	14	55817787	55817787	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:55817787A>C	ENST00000313833.4	+	2	924	c.679A>C	c.(679-681)Aaa>Caa	p.K227Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.K227Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	227										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TAGCTGTTCAAAAAACTGCAC	0.507																																						dbGAP											0													82.0	75.0	78.0					14																	55817787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.679A>C	14.37:g.55817787A>C	ENSP00000313159:p.Lys227Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.K227Q	ENST00000313833.4	37	c.679	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	A	9.337	1.061925	0.19987	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.50001	0.76;0.76	5.34	5.34	0.76211	.	0.522427	0.16674	N	0.204259	T	0.60130	0.2245	M	0.69823	2.125	0.39450	D	0.967386	P	0.46706	0.883	P	0.50537	0.643	T	0.65709	-0.6102	10	0.66056	D	0.02	-16.8339	15.4894	0.75593	1.0:0.0:0.0:0.0	.	227	Q9NWN3	FBX34_HUMAN	Q	227	ENSP00000313159:K227Q;ENSP00000394117:K227Q	ENSP00000313159:K227Q	K	+	1	0	FBXO34	54887540	1.000000	0.71417	0.819000	0.32651	0.052000	0.14988	8.671000	0.91174	2.239000	0.73571	0.528000	0.53228	AAA	FBXO34	-	NULL	ENSG00000178974		0.507	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	182	0.00	0	A			55817787	55817787	+1	no_errors	ENST00000313833	ensembl	human	known	69_37n	missense	155	14.84	27	SNP	0.987	C
FBXO34	55030	genome.wustl.edu	37	14	55817821	55817821	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:55817821T>G	ENST00000313833.4	+	2	958	c.713T>G	c.(712-714)tTt>tGt	p.F238C	FBXO34_ENST00000440021.1_Missense_Mutation_p.F238C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	238										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ATTGTGAGGTTTTCTGGCCAA	0.488																																						dbGAP											0													80.0	74.0	76.0					14																	55817821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.713T>G	14.37:g.55817821T>G	ENSP00000313159:p.Phe238Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F238C	ENST00000313833.4	37	c.713	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	T	10.96	1.497464	0.26861	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20200	2.09;2.09	5.34	4.2	0.49525	.	0.726929	0.12682	N	0.447911	T	0.37348	0.1000	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.63113	0.911	T	0.13150	-1.0520	10	0.87932	D	0	-18.8257	11.0962	0.48145	0.0:0.0722:0.0:0.9278	.	238	Q9NWN3	FBX34_HUMAN	C	238	ENSP00000313159:F238C;ENSP00000394117:F238C	ENSP00000313159:F238C	F	+	2	0	FBXO34	54887574	0.558000	0.26554	0.069000	0.20011	0.343000	0.28985	2.340000	0.43974	1.042000	0.40150	0.528000	0.53228	TTT	FBXO34	-	NULL	ENSG00000178974		0.488	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	171	0.00	0	T			55817821	55817821	+1	no_errors	ENST00000313833	ensembl	human	known	69_37n	missense	141	18.02	31	SNP	0.062	G
FBXO38	81545	genome.wustl.edu	37	5	147803583	147803583	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:147803583C>T	ENST00000340253.5	+	13	1809	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	FBXO38_ENST00000394370.3_Silent_p.I547I|FBXO38_ENST00000513826.1_Silent_p.I547I|FBXO38_ENST00000296701.6_Silent_p.I547I			Q6PIJ6	FBX38_HUMAN	F-box protein 38	547					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGACATCGTCCAAGAAG	0.433																																						dbGAP											0													149.0	134.0	139.0					5																	147803583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1641C>T	5.37:g.147803583C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	superfamily_F-box_dom_cyclin-like	p.I547	ENST00000340253.5	37	c.1641		5																																																																																			FBXO38	-	NULL	ENSG00000145868		0.433	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	217	0.00	0	C	NM_030793		147803583	147803583	+1	no_errors	ENST00000340253	ensembl	human	known	69_37n	silent	198	19.60	49	SNP	0.997	T
FBXO4	26272	genome.wustl.edu	37	5	41941351	41941351	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41941351C>A	ENST00000281623.3	+	7	1188	c.1132C>A	c.(1132-1134)Ctt>Att	p.L378I	FBXO4_ENST00000509134.1_3'UTR	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	378					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGAGTGGATTCTTGAAGAAGT	0.368																																						dbGAP											0													136.0	130.0	132.0					5																	41941351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.1132C>A	5.37:g.41941351C>A	ENSP00000281623:p.Leu378Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L378I	ENST00000281623.3	37	c.1132	CCDS3938.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337204	0.81911	.	.	ENSG00000151876	ENST00000281623	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.68906	0.3052	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	T	0.68880	-0.5292	9	0.56958	D	0.05	-20.3688	11.9761	0.53091	0.0:0.9175:0.0:0.0825	.	378	Q9UKT5	FBX4_HUMAN	I	378	.	ENSP00000281623:L378I	L	+	1	0	FBXO4	41977108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.286000	0.51724	2.767000	0.95098	0.556000	0.70494	CTT	FBXO4	-	NULL	ENSG00000151876		0.368	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	HGNC	protein_coding	OTTHUMT00000211614.1	368	0.27	1	C			41941351	41941351	+1	no_errors	ENST00000281623	ensembl	human	known	69_37n	missense	227	13.69	36	SNP	1.000	A
FBXO38	81545	genome.wustl.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:147820025G>A	ENST00000340253.5	+	20	3377	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_ENST00000394370.3_Missense_Mutation_p.R995Q|FBXO38_ENST00000513826.1_Missense_Mutation_p.R825Q|FBXO38_ENST00000296701.6_Missense_Mutation_p.R825Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1070					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353																																						dbGAP											0													43.0	47.0	46.0					5																	147820025		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3209G>A	5.37:g.147820025G>A	ENSP00000342023:p.Arg1070Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.R1070Q	ENST00000340253.5	37	c.3209		5	.	.	.	.	.	.	.	.	.	.	G	34	5.354128	0.95830	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.39787	1.06;1.16;1.13;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.32530	0.975	0.32900	D	0.513013	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.947;0.994;0.996	T	0.61898	-0.6968	10	0.48119	T	0.1	-7.3358	18.2978	0.90153	0.0:0.0:1.0:0.0	.	825;995;1070	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	Q	1070;825;995;825	ENSP00000342023:R1070Q;ENSP00000296701:R825Q;ENSP00000377895:R995Q;ENSP00000426410:R825Q	ENSP00000296701:R825Q	R	+	2	0	FBXO38	147800218	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.423000	0.97461	2.670000	0.90874	0.467000	0.42956	CGA	FBXO38	-	NULL	ENSG00000145868		0.353	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	51	0.00	0	G	NM_030793		147820025	147820025	+1	no_errors	ENST00000340253	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	A
FBXO43	286151	genome.wustl.edu	37	8	101154164	101154164	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101154164C>T	ENST00000428847.2	-	2	634	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	106					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTCAGGGTGCTCATAGAGTA	0.363																																						dbGAP											0													101.0	93.0	95.0					8																	101154164		1811	4069	5880	-	-	-	SO:0001819	synonymous_variant	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.318G>A	8.37:g.101154164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.E106	ENST00000428847.2	37	c.318	CCDS47904.1	8																																																																																			FBXO43	-	NULL	ENSG00000156509		0.363	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	129	0.00	0	C	XM_209918		101154164	101154164	-1	no_errors	ENST00000428847	ensembl	human	known	69_37n	silent	78	20.41	20	SNP	0.018	T
FBXO43	286151	genome.wustl.edu	37	8	101154234	101154234	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101154234G>T	ENST00000428847.2	-	2	564	c.248C>A	c.(247-249)tCt>tAt	p.S83Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	83					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AAAGCTACAAGATTTTAACTC	0.398																																						dbGAP											0													36.0	37.0	36.0					8																	101154234		1824	4082	5906	-	-	-	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.248C>A	8.37:g.101154234G>T	ENSP00000403293:p.Ser83Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom_cyclin-like,smart_Znf_C6HC	p.S83Y	ENST00000428847.2	37	c.248	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	G	9.176	1.022387	0.19433	.	.	ENSG00000156509	ENST00000428847	T	0.33654	1.4	5.26	5.26	0.73747	.	0.697230	0.14296	N	0.328569	T	0.33177	0.0854	L	0.40543	1.245	0.09310	N	1	P;P	0.50943	0.94;0.875	P;B	0.44732	0.459;0.365	T	0.24941	-1.0146	10	0.56958	D	0.05	-2.6795	9.4558	0.38753	0.0:0.1272:0.677:0.1958	.	49;83	C9J908;Q4G163	.;FBX43_HUMAN	Y	83	ENSP00000403293:S83Y	ENSP00000403293:S83Y	S	-	2	0	FBXO43	101223410	0.023000	0.18921	0.009000	0.14445	0.195000	0.23768	1.465000	0.35299	2.615000	0.88500	0.563000	0.77884	TCT	FBXO43	-	NULL	ENSG00000156509		0.398	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	23	0.00	0	G	XM_209918		101154234	101154234	-1	no_errors	ENST00000428847	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.011	T
FBXO9	26268	genome.wustl.edu	37	6	52960341	52960341	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:52960341C>T	ENST00000244426.6	+	11	1286	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	FBXO9_ENST00000370939.3_Missense_Mutation_p.R328C|FBXO9_ENST00000323557.7_Missense_Mutation_p.R362C	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	372					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAGATATTTTCGTCGTGTCCC	0.383																																						dbGAP											0													81.0	76.0	78.0					6																	52960341		1837	4094	5931	-	-	-	SO:0001583	missense	0			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1114C>T	6.37:g.52960341C>T	ENSP00000244426:p.Arg372Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R372C	ENST00000244426.6	37	c.1114	CCDS55023.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.45|15.45	2.837390|2.837390	0.50951|0.50951	.|.	.|.	ENSG00000112146|ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426|ENST00000484436	T;T;T|.	0.78707|.	-1.19;-1.2;-1.2|.	5.13|5.13	5.13|5.13	0.70059|0.70059	F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72439|0.72439	0.3460|0.3460	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	B;B;B|.	0.33120|.	0.198;0.398;0.22|.	B;B;B|.	0.24155|.	0.051;0.037;0.017|.	T|T	0.75442|0.75442	-0.3316|-0.3316	10|5	0.49607|.	T|.	0.09|.	-5.5272|-5.5272	13.2795|13.2795	0.60207|0.60207	0.0:0.9231:0.0:0.0769|0.0:0.9231:0.0:0.0769	.|.	362;479;372|.	Q9UK97-2;Q59EH8;Q9UK97|.	.;.;FBX9_HUMAN|.	C|L	328;362;372|82	ENSP00000359977:R328C;ENSP00000326968:R362C;ENSP00000244426:R372C|.	ENSP00000244426:R372C|.	R|S	+|+	1|2	0|0	FBXO9|FBXO9	53068300|53068300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.442000|4.442000	0.59988|0.59988	2.541000|2.541000	0.85698|0.85698	0.650000|0.650000	0.86243|0.86243	CGT|TCG	FBXO9	-	superfamily_F-box_dom_cyclin-like	ENSG00000112146		0.383	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	182	0.00	0	C			52960341	52960341	+1	no_errors	ENST00000244426	ensembl	human	known	69_37n	missense	145	14.53	25	SNP	1.000	T
FBXW12	285231	genome.wustl.edu	37	3	48436111	48436111	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:48436111C>A	ENST00000296438.5	+	11	1568	c.1382C>A	c.(1381-1383)tCt>tAt	p.S461Y	FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.S391Y|FBXW12_ENST00000445170.1_Missense_Mutation_p.S442Y|FBXW12_ENST00000436231.1_Missense_Mutation_p.S304Y	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	461										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGATGTATTCTTTGAATACG	0.363																																						dbGAP											0													125.0	117.0	120.0					3																	48436111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1382C>A	3.37:g.48436111C>A	ENSP00000296438:p.Ser461Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S461Y	ENST00000296438.5	37	c.1382	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847074	0.51164	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.34667	1.77;1.35;1.36;1.35	3.33	0.299	0.15771	.	0.567200	0.16574	N	0.208462	T	0.32971	0.0847	N	0.24115	0.695	0.23913	N	0.99649	D;D;D;D	0.64830	0.994;0.994;0.989;0.989	P;P;P;P	0.59889	0.865;0.865;0.737;0.737	T	0.10753	-1.0616	10	0.52906	T	0.07	-3.9164	4.0873	0.09953	0.0:0.5816:0.2041:0.2143	.	360;442;391;461	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	Y	360;461;304;442;391	ENSP00000296438:S461Y;ENSP00000413866:S304Y;ENSP00000406139:S442Y;ENSP00000414683:S391Y	ENSP00000296438:S461Y	S	+	2	0	FBXW12	48411115	0.953000	0.32496	0.862000	0.33874	0.402000	0.30811	0.135000	0.15952	0.050000	0.15949	0.591000	0.81541	TCT	FBXW12	-	NULL	ENSG00000164049		0.363	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	239	0.00	0	C	NM_207102		48436111	48436111	+1	no_errors	ENST00000296438	ensembl	human	known	69_37n	missense	177	16.90	36	SNP	0.916	A
FBXW7	55294	genome.wustl.edu	37	4	153332699	153332699	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:153332699G>A	ENST00000281708.4	-	2	1486	c.257C>T	c.(256-258)tCg>tTg	p.S86L	FBXW7_ENST00000604872.1_Missense_Mutation_p.S86L|FBXW7_ENST00000603548.1_Missense_Mutation_p.S86L|FBXW7_ENST00000603841.1_Missense_Mutation_p.S86L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	86					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCATCTACCGAAATAAATCT	0.448			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	dbGAP		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0													232.0	220.0	224.0					4																	153332699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.257C>T	4.37:g.153332699G>A	ENSP00000281708:p.Ser86Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S86L	ENST00000281708.4	37	c.257	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893446	0.52121	.	.	ENSG00000109670	ENST00000281708	T	0.54071	0.59	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);	0.789426	0.11539	N	0.553973	T	0.38852	0.1056	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16748	-1.0392	10	0.56958	D	0.05	0.0882	12.7804	0.57474	0.0745:0.0:0.9255:0.0	.	86	Q969H0	FBXW7_HUMAN	L	86	ENSP00000281708:S86L	ENSP00000281708:S86L	S	-	2	0	FBXW7	153552149	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	4.079000	0.57613	2.614000	0.88457	0.650000	0.86243	TCG	FBXW7	-	NULL	ENSG00000109670		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	1351	0.15	2	G			153332699	153332699	-1	no_errors	ENST00000281708	ensembl	human	known	69_37n	missense	726	18.96	171	SNP	0.998	A
FCGBP	8857	genome.wustl.edu	37	19	40367448	40367448	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40367448G>A	ENST00000221347.6	-	29	13519	c.13512C>T	c.(13510-13512)tgC>tgT	p.C4504C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4504	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGTCCGTGGCAGGGTGCAC	0.612																																						dbGAP											0													1.0	1.0	1.0					19																	40367448		400	1148	1548	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13512C>T	19.37:g.40367448G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.C4504	ENST00000221347.6	37	c.13512	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D	ENSG00000090920		0.612	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	11	0.00	0	G	NM_003890		40367448	40367448	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	4	55.56	5	SNP	0.650	A
FCGBP	8857	genome.wustl.edu	37	19	40433015	40433015	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40433015G>A	ENST00000221347.6	-	2	1261	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	418	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGCCAGCCCGAAGGTGAGCA	0.587																																						dbGAP											0													81.0	68.0	72.0					19																	40433015		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1254C>T	19.37:g.40433015G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.F418	ENST00000221347.6	37	c.1254	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	190	0.52	1	G	NM_003890		40433015	40433015	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	93	28.46	37	SNP	0.735	A
FCGR1A	2209	genome.wustl.edu	37	1	149762904	149762904	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:149762904G>T	ENST00000369168.4	+	6	1010	c.956G>T	c.(955-957)aGa>aTa	p.R319I	RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	319	Interaction with EPB41L2.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAACTGAAAAGAAAGAAAAAG	0.383																																						dbGAP											0													65.0	75.0	72.0					1																	149762904		2106	4251	6357	-	-	-	SO:0001583	missense	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.956G>T	1.37:g.149762904G>T	ENSP00000358165:p.Arg319Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R319I	ENST00000369168.4	37	c.956	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617323	0.46736	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.03094	4.43;4.05	4.13	3.21	0.36854	.	2.468720	0.01603	N	0.022142	T	0.05456	0.0144	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.22347	-1.0219	10	0.72032	D	0.01	.	8.1311	0.31027	0.1177:0.0:0.8823:0.0	.	319	P12314	FCGR1_HUMAN	I	227;319	ENSP00000394279:R227I;ENSP00000358165:R319I	ENSP00000358165:R319I	R	+	2	0	FCGR1A	148029528	0.936000	0.31750	0.373000	0.26003	0.580000	0.36256	0.678000	0.25277	1.027000	0.39758	0.543000	0.68304	AGA	FCGR1A	-	NULL	ENSG00000150337		0.383	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	234	0.00	0	G	NM_000566		149762904	149762904	+1	no_errors	ENST00000369168	ensembl	human	known	69_37n	missense	112	10.40	13	SNP	0.786	T
FCHO2	115548	genome.wustl.edu	37	5	72302349	72302349	+	Silent	SNP	C	C	T	rs557188252		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:72302349C>T	ENST00000430046.2	+	6	689	c.573C>T	c.(571-573)ttC>ttT	p.F191F	FCHO2_ENST00000341845.6_Silent_p.F191F|FCHO2_ENST00000512348.1_Silent_p.F191F|FCHO2_ENST00000287761.6_Silent_p.F191F	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	191	Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AAGCTGATTTCGAACAGAAAA	0.294																																						dbGAP											0													28.0	27.0	27.0					5																	72302349		1794	4056	5850	-	-	-	SO:0001819	synonymous_variant	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.573C>T	5.37:g.72302349C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_FCH	p.S161L	ENST00000430046.2	37	c.482	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	C	8.410	0.843860	0.16963	.	.	ENSG00000157107	ENST00000507345	.	.	.	4.88	2.43	0.29744	.	.	.	.	.	T	0.58380	0.2118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53143	-0.8480	4	.	.	.	-15.4987	9.2927	0.37797	0.0:0.1543:0.0:0.8457	.	.	.	.	L	161	.	.	S	+	2	0	FCHO2	72338105	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.407000	0.52644	0.701000	0.31803	-0.606000	0.04082	TCG	FCHO2	-	NULL	ENSG00000157107		0.294	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	111	0.00	0	C	XM_291142		72302349	72302349	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000507345	ensembl	human	novel	69_37n	missense	71	17.44	15	SNP	1.000	T
FCHO2	115548	genome.wustl.edu	37	5	72373187	72373187	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:72373187G>T	ENST00000430046.2	+	21	1830	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	FCHO2_ENST00000341845.6_Missense_Mutation_p.D572Y|FCHO2_ENST00000512348.1_Missense_Mutation_p.D539Y	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	572	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GATCACTGGTGATATGACAAT	0.348																																						dbGAP											0													74.0	67.0	69.0					5																	72373187		1849	4094	5943	-	-	-	SO:0001583	missense	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1714G>T	5.37:g.72373187G>T	ENSP00000393776:p.Asp572Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH	p.D572Y	ENST00000430046.2	37	c.1714	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579873	0.86645	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.49139	0.79;0.79;0.79	5.73	5.73	0.89815	Muniscin C-terminal mu homology domain (1);	0.051466	0.85682	D	0.000000	T	0.68366	0.2993	M	0.67397	2.05	0.80722	D	1	D;D	0.69078	0.997;0.985	D;D	0.66847	0.947;0.936	T	0.69815	-0.5043	10	0.87932	D	0	-15.8582	19.903	0.96995	0.0:0.0:1.0:0.0	.	539;572	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	Y	572;572;539	ENSP00000393776:D572Y;ENSP00000344034:D572Y;ENSP00000427296:D539Y	ENSP00000344034:D572Y	D	+	1	0	FCHO2	72408943	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.476000	0.97823	2.716000	0.92895	0.555000	0.69702	GAT	FCHO2	-	pfam_Muniscin_C-term_mu_dom	ENSG00000157107		0.348	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	424	0.00	0	G	XM_291142		72373187	72373187	+1	no_errors	ENST00000341845	ensembl	human	known	69_37n	missense	330	10.08	37	SNP	1.000	T
FCHSD1	89848	genome.wustl.edu	37	5	141020961	141020961	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:141020961C>T	ENST00000435817.2	-	0	2227				FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1										FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATAAGGGCGATTCCAGCT	0.507																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.*104G>A	5.37:g.141020961C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	RNA	SNP	-	NULL	ENST00000435817.2	37	NULL	CCDS47295.1	5																																																																																			FCHSD1	-	-	ENSG00000197948		0.507	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	56	0.00	0	C	NM_033449		141020961	141020961	-1	no_errors	ENST00000518160	ensembl	human	known	69_37n	rna	28	30.00	12	SNP	0.000	T
FCHSD1	89848	genome.wustl.edu	37	5	141024448	141024448	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:141024448C>T	ENST00000435817.2	-	15	1552	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.G427E	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	501	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCATCTCCCTCCTCTAT	0.607																																						dbGAP											0													52.0	60.0	57.0					5																	141024448		2102	4228	6330	-	-	-	SO:0001583	missense	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1502G>A	5.37:g.141024448C>T	ENSP00000399259:p.Gly501Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.G501E	ENST00000435817.2	37	c.1502	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904295	0.92035	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.13538	2.58;2.58;2.58	5.54	5.54	0.83059	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01791	-1.1273	10	0.87932	D	0	-7.2917	19.0711	0.93136	0.0:1.0:0.0:0.0	.	181;501	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	E	501;427;184	ENSP00000399259:G501E;ENSP00000428677:G427E;ENSP00000430448:G184E	ENSP00000399259:G501E	G	-	2	0	FCHSD1	141004632	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.955000	0.76007	2.618000	0.88619	0.462000	0.41574	GGA	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000197948		0.607	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	68	0.00	0	C	NM_033449		141024448	141024448	-1	no_errors	ENST00000435817	ensembl	human	known	69_37n	missense	56	12.31	8	SNP	1.000	T
FCHSD1	89848	genome.wustl.edu	37	5	141026716	141026716	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:141026716C>A	ENST00000435817.2	-	10	960	c.910G>T	c.(910-912)Gca>Tca	p.A304S	FCHSD1_ENST00000522126.1_Missense_Mutation_p.A228S|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A302S	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	304									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTCCCTGCTGGCTGAAAC	0.488																																						dbGAP											0													38.0	41.0	40.0					5																	141026716		1896	4120	6016	-	-	-	SO:0001583	missense	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.910G>T	5.37:g.141026716C>A	ENSP00000399259:p.Ala304Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.A304S	ENST00000435817.2	37	c.910	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800964	0.50315	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.44482	1.79;0.92;1.56	5.49	4.43	0.53597	.	0.392618	0.24452	N	0.038406	T	0.23133	0.0559	N	0.11427	0.14	0.80722	D	1	B	0.20887	0.049	B	0.19946	0.027	T	0.07271	-1.0781	10	0.18710	T	0.47	-11.1203	12.1338	0.53959	0.0:0.9033:0.0:0.0967	.	304	Q86WN1	FCSD1_HUMAN	S	304;228;302	ENSP00000399259:A304S;ENSP00000427796:A228S;ENSP00000428677:A302S	ENSP00000399259:A304S	A	-	1	0	FCHSD1	141006900	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	1.570000	0.36439	2.582000	0.87167	0.462000	0.41574	GCA	FCHSD1	-	NULL	ENSG00000197948		0.488	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	292	0.00	0	C	NM_033449		141026716	141026716	-1	no_errors	ENST00000435817	ensembl	human	known	69_37n	missense	174	15.53	32	SNP	1.000	A
FCN3	8547	genome.wustl.edu	37	1	27700001	27700001	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:27700001C>A	ENST00000270879.4	-	4	248	c.243G>T	c.(241-243)gtG>gtT	p.V81V	FCN3_ENST00000354982.2_Intron	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	81					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGCAGGTTCACTGGATCTC	0.617																																						dbGAP											0													76.0	64.0	68.0					1																	27700001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.243G>T	1.37:g.27700001C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IBJ5|Q8WW86	Silent	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.V81	ENST00000270879.4	37	c.243	CCDS300.1	1																																																																																			FCN3	-	NULL	ENSG00000142748		0.617	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCN3	HGNC	protein_coding	OTTHUMT00000015667.1	43	0.00	0	C			27700001	27700001	-1	no_errors	ENST00000270879	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.000	A
FCRL5	83416	genome.wustl.edu	37	1	157494345	157494345	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:157494345G>A	ENST00000361835.3	-	10	2120	c.1963C>T	c.(1963-1965)Cca>Tca	p.P655S	FCRL5_ENST00000356953.4_Missense_Mutation_p.P655S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P655S|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368191.3_Missense_Mutation_p.P570S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	655					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGAGATACTGGAACTGAGGGA	0.498																																						dbGAP											0													48.0	54.0	52.0					1																	157494345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1963C>T	1.37:g.157494345G>A	ENSP00000354691:p.Pro655Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P655S	ENST00000361835.3	37	c.1963	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342675	0.41498	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.57273	0.41;0.41;0.46;0.72	4.69	3.75	0.43078	Immunoglobulin-like fold (1);	.	.	.	.	T	0.65249	0.2673	M	0.90309	3.105	0.80722	D	1	D;P;D;D	0.60575	0.958;0.928;0.988;0.976	P;P;D;D	0.68353	0.882;0.729;0.957;0.929	T	0.68205	-0.5470	9	0.30854	T	0.27	.	10.7466	0.46183	0.0:0.1928:0.8072:0.0	.	570;655;655;655	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	S	655;655;655;570	ENSP00000354691:P655S;ENSP00000349434:P655S;ENSP00000357173:P655S;ENSP00000357174:P570S	ENSP00000349434:P655S	P	-	1	0	FCRL5	155760969	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	2.035000	0.41155	1.289000	0.44618	0.555000	0.69702	CCA	FCRL5	-	NULL	ENSG00000143297		0.498	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	228	0.00	0	G	NM_031281		157494345	157494345	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	missense	162	10.50	19	SNP	1.000	A
FCRL3	115352	genome.wustl.edu	37	1	157667004	157667004	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:157667004G>T	ENST00000368184.3	-	6	1061	c.770C>A	c.(769-771)tCt>tAt	p.S257Y	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.S257Y	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	257	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACACCAGTAAGACCCTGAGTC	0.537																																						dbGAP											0													114.0	104.0	107.0					1																	157667004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.770C>A	1.37:g.157667004G>T	ENSP00000357167:p.Ser257Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S257Y	ENST00000368184.3	37	c.770	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425470	0.25639	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12879	2.64;2.64	5.57	0.259	0.15583	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.245770	0.02132	N	0.056490	T	0.06050	0.0157	L	0.60067	1.865	0.09310	N	1	P;P	0.41978	0.767;0.562	B;B	0.44224	0.444;0.32	T	0.19321	-1.0309	10	0.21540	T	0.41	.	3.7641	0.08616	0.2444:0.0:0.3162:0.4393	.	257;257	Q96P31;Q96P31-6	FCRL3_HUMAN;.	Y	257	ENSP00000357169:S257Y;ENSP00000357167:S257Y	ENSP00000292392:S257Y	S	-	2	0	FCRL3	155933628	0.001000	0.12720	0.008000	0.14137	0.045000	0.14185	-0.044000	0.12023	0.006000	0.14734	0.313000	0.20887	TCT	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000160856		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	175	0.00	0	G	NM_052939		157667004	157667004	-1	no_errors	ENST00000368186	ensembl	human	known	69_37n	missense	116	27.95	45	SNP	0.003	T
FCRL2	79368	genome.wustl.edu	37	1	157740422	157740422	+	Silent	SNP	G	G	A	rs377455239	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:157740422G>A	ENST00000361516.3	-	3	135	c.87C>T	c.(85-87)ttC>ttT	p.F29F	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Silent_p.F29F|FCRL2_ENST00000392274.3_Silent_p.F29F	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	29	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.F29F(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTCTCCTTCGAAGACAGAAG	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		19212	0.002		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	endometrium(1)											41.0	42.0	41.0					1																	157740422		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.87C>T	1.37:g.157740422G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F29	ENST00000361516.3	37	c.87	CCDS1168.1	1																																																																																			FCRL2	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000132704		0.463	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	137	0.00	0	G	NM_030764		157740422	157740422	-1	no_errors	ENST00000361516	ensembl	human	known	69_37n	silent	82	16.33	16	SNP	0.734	A
FDCSP	260436	genome.wustl.edu	37	4	71098739	71098739	+	Missense_Mutation	SNP	G	G	A	rs555778226		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:71098739G>A	ENST00000317987.5	+	3	198	c.86G>A	c.(85-87)aGa>aAa	p.R29K		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	29						extracellular region (GO:0005576)											CGAGAAAAAAGAAGTGTAAGT	0.284																																						dbGAP											0													91.0	93.0	92.0					4																	71098739		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.86G>A	4.37:g.71098739G>A	ENSP00000318437:p.Arg29Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R29K	ENST00000317987.5	37	c.86	CCDS3537.1	4	.	.	.	.	.	.	.	.	.	.	G	3.953	-0.011882	0.07727	.	.	ENSG00000181617	ENST00000317987	.	.	.	4.33	1.47	0.22746	.	1.330830	0.05699	N	0.593794	T	0.51007	0.1649	.	.	.	0.21325	N	0.999727	D	0.56035	0.974	P	0.54270	0.747	T	0.34950	-0.9808	8	0.87932	D	0	-4.9393	6.824	0.23872	0.3025:0.0:0.6975:0.0	.	29	Q8NFU4	FDSCP_HUMAN	K	29	.	ENSP00000318437:R29K	R	+	2	0	C4orf7	71133328	0.113000	0.22115	0.436000	0.26797	0.066000	0.16364	-0.700000	0.05081	0.146000	0.19002	0.557000	0.71058	AGA	FDCSP	-	NULL	ENSG00000181617		0.284	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDCSP	HGNC	protein_coding	OTTHUMT00000251549.1	348	0.00	0	G	NM_152997		71098739	71098739	+1	no_errors	ENST00000317987	ensembl	human	known	69_37n	missense	196	26.87	72	SNP	0.709	A
TMEM258	746	genome.wustl.edu	37	11	61562967	61562967	+	5'Flank	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:61562967C>T	ENST00000537328.1	-	0	0				MIR611_ENST00000384869.1_RNA|TMEM258_ENST00000543510.1_5'Flank|FEN1_ENST00000305885.2_Missense_Mutation_p.A45V|FADS2_ENST00000574708.1_Intron	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											TTCCTGATTGCTGTTCGCCAG	0.552																																						dbGAP											0													87.0	77.0	81.0					11																	61562967		2202	4299	6501	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61562967C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.A45V	ENST00000537328.1	37	c.134	CCDS8009.1	11	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735674	0.69189	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.65916	-0.18;-0.18	5.44	4.51	0.55191	XPG N-terminal (2);	0.051298	0.85682	D	0.000000	T	0.81341	0.4802	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83346	-0.0005	10	0.40728	T	0.16	-17.527	16.3323	0.83048	0.0:0.8676:0.1324:0.0	.	45	P39748	FEN1_HUMAN	V	45	ENSP00000305480:A45V;ENSP00000445692:A45V	ENSP00000305480:A45V	A	+	2	0	FEN1	61319543	1.000000	0.71417	0.838000	0.33150	0.810000	0.45777	5.868000	0.69605	1.400000	0.46741	0.561000	0.74099	GCT	FEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N	ENSG00000168496		0.552	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398577.1	76	0.00	0	C	NM_014206		61562967	61562967	+1	no_errors	ENST00000305885	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	T
TMEM258	746	genome.wustl.edu	37	11	61563050	61563050	+	5'Flank	SNP	C	C	T	rs145709748		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:61563050C>T	ENST00000537328.1	-	0	0				TMEM258_ENST00000543510.1_5'Flank|FEN1_ENST00000305885.2_Missense_Mutation_p.R73C|FADS2_ENST00000574708.1_Intron	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258							integral component of membrane (GO:0016021)											CCGCACCATTCGCATGATGGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		21378	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													85.0	76.0	79.0					11																	61563050		2202	4299	6501	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172		11.37:g.61563050C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.R73C	ENST00000537328.1	37	c.217	CCDS8009.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.77	3.215814	0.58452	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.66638	-0.22;-0.22	5.44	4.54	0.55810	XPG N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85349	0.5676	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89120	0.3502	10	0.87932	D	0	-25.2005	14.568	0.68191	0.0:0.9297:0.0:0.0703	.	73	P39748	FEN1_HUMAN	C	73	ENSP00000305480:R73C;ENSP00000445692:R73C	ENSP00000305480:R73C	R	+	1	0	FEN1	61319626	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	7.417000	0.80156	1.446000	0.47643	-0.258000	0.10820	CGC	FEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N	ENSG00000168496		0.577	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398577.1	63	0.00	0	C	NM_014206		61563050	61563050	+1	no_errors	ENST00000305885	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	T
FDXACB1	91893	genome.wustl.edu	37	11	111747364	111747364	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:111747364C>A	ENST00000260257.4	-	4	581		c.e4-1		ALG9_ENST00000524880.1_Splice_Site|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000527377.1_Splice_Site|FDXACB1_ENST00000542429.1_Splice_Site|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1						phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ATCTTGACTCCTGGCAAAATA	0.378																																						dbGAP											0													68.0	65.0	66.0					11																	111747364		1876	4106	5982	-	-	-	SO:0001630	splice_region_variant	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.534-1G>T	11.37:g.111747364C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJW7|B4DUU2	Splice_Site	SNP	-	e4-1	ENST00000260257.4	37	c.534-1	CCDS44729.1	11	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695061	0.48202	.	.	ENSG00000086848;ENSG00000255561;ENSG00000255561;ENSG00000255561	ENST00000428306;ENST00000260257;ENST00000542429;ENST00000528274	.	.	.	5.91	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0427	0.71803	0.0:0.9321:0.0:0.0679	.	.	.	.	.	-1	.	.	.	-	.	.	FDXACB1;ALG9	111252574	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	5.470000	0.66756	1.515000	0.48885	0.655000	0.94253	.	FDXACB1	-	-	ENSG00000255561		0.378	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	83	0.00	0	C	NM_138378	Intron	111747364	111747364	-1	no_errors	ENST00000260257	ensembl	human	known	69_37n	splice_site	57	28.75	23	SNP	1.000	A
FER1L6	654463	genome.wustl.edu	37	8	124988211	124988211	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:124988211G>A	ENST00000522917.1	+	9	963	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	FER1L6_ENST00000399018.1_Missense_Mutation_p.E253K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	253	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTACAAAGCAGAAGGGTTGCC	0.478																																						dbGAP											0													214.0	203.0	207.0					8																	124988211		1932	4136	6068	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.757G>A	8.37:g.124988211G>A	ENSP00000428280:p.Glu253Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E253K	ENST00000522917.1	37	c.757	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.598491	0.96614	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.65732	-0.17;-0.17	6.06	6.06	0.98353	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.76941	0.4058	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76066	-0.3095	10	0.66056	D	0.02	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	253	Q2WGJ9	FR1L6_HUMAN	K	253	ENSP00000428280:E253K;ENSP00000381982:E253K	ENSP00000381982:E253K	E	+	1	0	FER1L6	125057392	1.000000	0.71417	0.990000	0.47175	0.795000	0.44927	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GAA	FER1L6	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000214814		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	319	0.00	0	G	NM_001039112		124988211	124988211	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	238	26.09	84	SNP	1.000	A
FER1L6	654463	genome.wustl.edu	37	8	125078712	125078712	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:125078712G>T	ENST00000522917.1	+	27	3805	c.3599G>T	c.(3598-3600)aGg>aTg	p.R1200M	FER1L6_ENST00000399018.1_Missense_Mutation_p.R1200M|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1200						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAGAAAGAGGACCATAGCA	0.498																																						dbGAP											0													223.0	223.0	223.0					8																	125078712		1913	4125	6038	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3599G>T	8.37:g.125078712G>T	ENSP00000428280:p.Arg1200Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1200M	ENST00000522917.1	37	c.3599	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894402	0.52121	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81739	-1.53;-1.53	5.6	5.6	0.85130	.	0.386906	0.23688	U	0.045546	D	0.87888	0.6291	M	0.65498	2.005	0.54753	D	0.999982	D	0.76494	0.999	D	0.64042	0.921	D	0.85147	0.0984	10	0.29301	T	0.29	-9.2596	19.2042	0.93723	0.0:0.0:1.0:0.0	.	1200	Q2WGJ9	FR1L6_HUMAN	M	1200	ENSP00000428280:R1200M;ENSP00000381982:R1200M	ENSP00000381982:R1200M	R	+	2	0	FER1L6	125147893	1.000000	0.71417	0.984000	0.44739	0.168000	0.22595	6.763000	0.74955	2.650000	0.89964	0.655000	0.94253	AGG	FER1L6	-	NULL	ENSG00000214814		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	295	0.00	0	G	NM_001039112		125078712	125078712	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	256	11.72	34	SNP	1.000	T
FERMT1	55612	genome.wustl.edu	37	20	6093147	6093147	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:6093147G>T	ENST00000217289.4	-	4	1297	c.509C>A	c.(508-510)tCt>tAt	p.S170Y	FERMT1_ENST00000536936.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	170	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AGCTGTTGGAGAACTCTCCAG	0.368																																						dbGAP											0													153.0	155.0	154.0					20																	6093147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.509C>A	20.37:g.6093147G>T	ENSP00000217289:p.Ser170Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S170Y	ENST00000217289.4	37	c.509	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589116	0.46110	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.46063	0.88	5.77	5.77	0.91146	FERM, N-terminal (1);Band 4.1 domain (1);	0.254572	0.40144	N	0.001169	T	0.57007	0.2024	M	0.61703	1.905	0.80722	D	1	B;P	0.49090	0.402;0.919	B;P	0.52598	0.254;0.703	T	0.54036	-0.8353	10	0.51188	T	0.08	-12.491	20.3626	0.98863	0.0:0.0:1.0:0.0	.	170;170	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	Y	170	ENSP00000217289:S170Y	ENSP00000217289:S170Y	S	-	2	0	FERMT1	6041147	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.535000	0.82014	2.885000	0.99019	0.655000	0.94253	TCT	FERMT1	-	pfam_FERM_N,smart_Band_41_domain	ENSG00000101311		0.368	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	694	0.00	0	G	NM_017671		6093147	6093147	-1	no_errors	ENST00000217289	ensembl	human	known	69_37n	missense	626	14.13	103	SNP	1.000	T
FERMT2	10979	genome.wustl.edu	37	14	53327632	53327632	+	Intron	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:53327632A>G	ENST00000395631.2	-	13	1819				FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTTCTATTTTAAATTTAAATT	0.303																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1603-449T>C	14.37:g.53327632A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJY2|Q14840|Q86TY7	RNA	SNP	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.303	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	117	0.00	0	A	NM_006832		53327632	53327632	-1	no_errors	ENST00000557255	ensembl	human	known	69_37n	rna	71	16.28	14	SNP	0.034	G
FERMT2	10979	genome.wustl.edu	37	14	53331208	53331208	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:53331208G>A	ENST00000395631.2	-	12	1729	c.1513C>T	c.(1513-1515)Cct>Tct	p.P505S	FERMT2_ENST00000399304.3_Missense_Mutation_p.P505S|FERMT2_ENST00000341590.3_Missense_Mutation_p.P505S|FERMT2_ENST00000553373.1_Missense_Mutation_p.P505S|FERMT2_ENST00000557255.1_5'Flank|FERMT2_ENST00000343279.4_Missense_Mutation_p.P505S			Q96AC1	FERM2_HUMAN	fermitin family member 2	505	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ATTAACTGAGGATCTGGGTTT	0.408																																						dbGAP											0													146.0	139.0	141.0					14																	53331208		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1513C>T	14.37:g.53331208G>A	ENSP00000378993:p.Pro505Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P505S	ENST00000395631.2	37	c.1513	CCDS9713.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.72|14.72	2.618415|2.618415	0.46736|0.46736	.|.	.|.	ENSG00000073712|ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304|ENST00000553663	T;T;T;T;T;T|.	0.76968|.	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Band 4.1 domain (1);FERM central domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48822|0.48822	0.1521|0.1521	N|N	0.10664|0.10664	0.02|0.02	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.15052|.	0.007;0.012;0.012|.	T|T	0.41088|0.41088	-0.9528|-0.9528	10|5	0.25751|.	T|.	0.34|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	505;505;505|.	Q96AC1-2;Q96AC1;B5TJY2|.	.;FERM2_HUMAN;.|.	S|F	505;505;458;505;505;505|11	ENSP00000378993:P505S;ENSP00000340391:P505S;ENSP00000450741:P458S;ENSP00000342858:P505S;ENSP00000451084:P505S;ENSP00000382243:P505S|.	ENSP00000340391:P505S|.	P|S	-|-	1|2	0|0	FERMT2|FERMT2	52400958|52400958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.813000|9.813000	0.99286|0.99286	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CCT|TCC	FERMT2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain	ENSG00000073712		0.408	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	411	0.00	0	G	NM_006832		53331208	53331208	-1	no_errors	ENST00000343279	ensembl	human	known	69_37n	missense	338	10.11	38	SNP	1.000	A
FGD2	221472	genome.wustl.edu	37	6	36983619	36983619	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:36983619G>A	ENST00000274963.8	+	9	1276	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	369	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GACCCGCATCGATGTGGCCGG	0.597																																						dbGAP											0													63.0	55.0	58.0					6																	36983619		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1105G>A	6.37:g.36983619G>A	ENSP00000274963:p.Asp369Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.D369N	ENST00000274963.8	37	c.1105	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274965	0.80580	.	.	ENSG00000146192	ENST00000274963	D	0.83591	-1.74	4.63	4.63	0.57726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.45867	D	0.000326	D	0.86606	0.5973	L	0.58969	1.84	0.39687	D	0.970986	D	0.71674	0.998	D	0.64506	0.926	D	0.87553	0.2466	10	0.54805	T	0.06	-4.8314	17.4531	0.87597	0.0:0.0:1.0:0.0	.	369	Q7Z6J4	FGD2_HUMAN	N	369	ENSP00000274963:D369N	ENSP00000274963:D369N	D	+	1	0	FGD2	37091597	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	4.411000	0.59781	2.263000	0.75096	0.491000	0.48974	GAT	FGD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000146192		0.597	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	241	0.00	0	G	NM_173558		36983619	36983619	+1	no_errors	ENST00000274963	ensembl	human	known	69_37n	missense	103	18.75	24	SNP	1.000	A
FGF20	26281	genome.wustl.edu	37	8	16850659	16850659	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:16850659T>C	ENST00000180166.5	-	3	706	c.558A>G	c.(556-558)aaA>aaG	p.K186K		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	186					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AATGTGTAAATTTCTGATGCC	0.433																																						dbGAP											0													179.0	159.0	166.0					8																	16850659		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.558A>G	8.37:g.16850659T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPH5	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.I88V	ENST00000180166.5	37	c.262	CCDS5998.1	8	.	.	.	.	.	.	.	.	.	.	T	6.878	0.531487	0.13127	.	.	ENSG00000078579	ENST00000519941	.	.	.	5.75	-4.18	0.03846	.	.	.	.	.	T	0.64227	0.2579	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65117	-0.6246	4	.	.	.	.	15.2781	0.73756	0.0:0.4623:0.0:0.5377	.	.	.	.	V	88	.	.	I	-	1	0	FGF20	16895030	0.985000	0.35326	0.974000	0.42286	0.838000	0.47535	0.187000	0.16998	-0.557000	0.06126	-1.647000	0.00761	ATT	FGF20	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	ENSG00000078579		0.433	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF20	HGNC	protein_coding	OTTHUMT00000214030.1	233	0.00	0	T			16850659	16850659	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519941	ensembl	human	putative	69_37n	missense	214	11.89	29	SNP	0.689	C
FGFR1	2260	genome.wustl.edu	37	8	38271208	38271208	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38271208C>T	ENST00000447712.2	-	18	3348	c.2407G>A	c.(2407-2409)Gag>Aag	p.E803K	FGFR1_ENST00000397091.5_Missense_Mutation_p.E801K|FGFR1_ENST00000397113.2_Missense_Mutation_p.E801K|FGFR1_ENST00000356207.5_Missense_Mutation_p.E714K|FGFR1_ENST00000341462.5_Missense_Mutation_p.E803K|FGFR1_ENST00000335922.5_Missense_Mutation_p.E793K|FGFR1_ENST00000397103.1_Missense_Mutation_p.E714K|FGFR1_ENST00000532791.1_Missense_Mutation_p.E801K|FGFR1_ENST00000397108.4_Missense_Mutation_p.E801K|FGFR1_ENST00000425967.3_Missense_Mutation_p.E834K|FGFR1_ENST00000326324.6_Missense_Mutation_p.E712K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	803					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGGGCTCCTCGGGCAGCGGC	0.667		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													17.0	24.0	22.0					8																	38271208		2067	4186	6253	-	-	-	SO:0001583	missense	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.2407G>A	8.37:g.38271208C>T	ENSP00000400162:p.Glu803Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E834K	ENST00000447712.2	37	c.2500	CCDS6107.2	8	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294360	0.40594	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.65	5.65	0.86999	.	0.155417	0.64402	D	0.000013	T	0.71962	0.3402	L	0.46157	1.445	0.80722	D	1	P;P;P;D;P	0.53151	0.937;0.854;0.858;0.958;0.912	B;B;B;B;B	0.44044	0.242;0.162;0.126;0.439;0.248	T	0.69228	-0.5200	10	0.24483	T	0.36	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	712;712;803;793;801	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	801;834;803;803;801;801;714;793;712;714;801	ENSP00000380280:E801K;ENSP00000393312:E834K;ENSP00000400162:E803K;ENSP00000340636:E803K;ENSP00000432972:E801K;ENSP00000380302:E801K;ENSP00000348537:E714K;ENSP00000337247:E793K;ENSP00000327229:E712K;ENSP00000380292:E714K;ENSP00000380297:E801K	ENSP00000327229:E712K	E	-	1	0	FGFR1	38390365	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	4.830000	0.62745	2.661000	0.90470	0.655000	0.94253	GAG	FGFR1	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000077782		0.667	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		58	0.00	0	C			38271208	38271208	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	1.000	T
FGFR1OP2	26127	genome.wustl.edu	37	12	27116368	27116368	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:27116368G>T	ENST00000229395.3	+	6	946	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	FGFR1OP2_ENST00000327214.5_Nonsense_Mutation_p.E164*	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	202					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGGAACAAGAACGAATATT	0.343																																						dbGAP											0													71.0	65.0	67.0					12																	27116368		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.604G>T	12.37:g.27116368G>T	ENSP00000229395:p.Glu202*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6R955|Q8N5L7|Q9P034|Q9UFK8	Nonsense_Mutation	SNP	pfam_SIKE,superfamily_DNA-bd_dom_put	p.E202*	ENST00000229395.3	37	c.604	CCDS8709.1	12	.	.	.	.	.	.	.	.	.	.	.	40	8.164736	0.98686	.	.	ENSG00000111790	ENST00000229395;ENST00000327214	.	.	.	5.22	5.22	0.72569	.	0.145169	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-23.1547	19.6699	0.95907	0.0:0.0:1.0:0.0	.	.	.	.	X	202;164	.	ENSP00000229395:E202X	E	+	1	0	FGFR1OP2	27007635	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.971000	0.93419	2.817000	0.96982	0.563000	0.77884	GAA	FGFR1OP2	-	pfam_SIKE	ENSG00000111790		0.343	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	FGFR1OP2	HGNC	protein_coding	OTTHUMT00000402961.1	148	0.00	0	G	NM_015633		27116368	27116368	+1	no_errors	ENST00000229395	ensembl	human	known	69_37n	nonsense	114	10.94	14	SNP	1.000	T
FGFR2	2263	genome.wustl.edu	37	10	123247590	123247590	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:123247590A>G	ENST00000358487.5	-	14	2173	c.1901T>C	c.(1900-1902)gTa>gCa	p.V634A	FGFR2_ENST00000478859.1_Missense_Mutation_p.V406A|FGFR2_ENST00000351936.6_Missense_Mutation_p.V632A|FGFR2_ENST00000360144.3_Missense_Mutation_p.V546A|FGFR2_ENST00000369060.4_Missense_Mutation_p.V518A|FGFR2_ENST00000356226.4_Missense_Mutation_p.V517A|FGFR2_ENST00000357555.5_Missense_Mutation_p.V545A|FGFR2_ENST00000369059.1_Missense_Mutation_p.V520A|FGFR2_ENST00000457416.2_Missense_Mutation_p.V635A|FGFR2_ENST00000369056.1_Missense_Mutation_p.V635A|FGFR2_ENST00000369061.4_Missense_Mutation_p.V522A|FGFR2_ENST00000346997.2_Missense_Mutation_p.V632A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GTTTTCTGTTACCAAAACATT	0.358		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													158.0	159.0	159.0					10																	123247590		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1901T>C	10.37:g.123247590A>G	ENSP00000351276:p.Val634Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V635A	ENST00000358487.5	37	c.1904	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812211	0.90707	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93835	0.8028	M	0.91459	3.21	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;0.998;1.0;1.0	D	0.95137	0.8260	10	0.87932	D	0	.	15.6673	0.77238	1.0:0.0:0.0:0.0	.	651;633;545;517;634;546;635;537	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	A	545;635;522;634;517;518;520;226;632;635;632;546;635;635;543	ENSP00000350166:V545A;ENSP00000358057:V522A;ENSP00000351276:V634A;ENSP00000348559:V517A;ENSP00000358056:V518A;ENSP00000358055:V520A;ENSP00000404219:V226A;ENSP00000263451:V632A;ENSP00000410294:V635A;ENSP00000309878:V632A;ENSP00000353262:V546A;ENSP00000358052:V635A;ENSP00000358054:V635A;ENSP00000337665:V543A	ENSP00000337665:V543A	V	-	2	0	FGFR2	123237580	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.139000	0.94554	2.148000	0.66965	0.533000	0.62120	GTA	FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000066468		0.358	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	250	0.00	0	A	NM_022976, NM_000141		123247590	123247590	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	missense	179	22.51	52	SNP	1.000	G
FGG	2266	genome.wustl.edu	37	4	155526112	155526112	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:155526112T>C	ENST00000336098.3	-	9	1274	c.1236A>G	c.(1234-1236)atA>atG	p.I412M	FGG_ENST00000407946.1_Missense_Mutation_p.I420M|FGG_ENST00000405164.1_Missense_Mutation_p.I420M|FGG_ENST00000404648.3_Missense_Mutation_p.I412M	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	412	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGAATGGGATTATCTTCATAG	0.453																																						dbGAP											0													200.0	182.0	188.0					4																	155526112		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1236A>G	4.37:g.155526112T>C	ENSP00000336829:p.Ile412Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.I412M	ENST00000336098.3	37	c.1236	CCDS3788.1	4	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994944	0.74703	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.84	-6.6	0.01824	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.229384	0.51477	N	0.000097	T	0.82139	0.4972	M	0.78049	2.395	0.45295	D	0.998294	B;P;B;B;B	0.41947	0.044;0.766;0.426;0.286;0.242	B;P;P;P;B	0.57960	0.264;0.83;0.467;0.524;0.389	T	0.78934	-0.2008	10	0.66056	D	0.02	.	4.8608	0.13583	0.1626:0.1279:0.5304:0.1791	.	309;420;412;420;412	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	M	412;420;412;420	ENSP00000384860:I412M;ENSP00000384101:I420M;ENSP00000336829:I412M;ENSP00000384552:I420M	ENSP00000336829:I412M	I	-	3	3	FGG	155745562	0.974000	0.33945	0.988000	0.46212	0.973000	0.67179	0.009000	0.13219	-0.435000	0.07264	-0.326000	0.08463	ATA	FGG	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000171557		0.453	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	528	0.00	0	T	NM_021870		155526112	155526112	-1	no_errors	ENST00000336098	ensembl	human	known	69_37n	missense	363	12.74	53	SNP	0.929	C
FGL1	2267	genome.wustl.edu	37	8	17743002	17743002	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:17743002G>A	ENST00000398056.2	-	4	877	c.62C>T	c.(61-63)tCg>tTg	p.S21L	RP11-156K13.2_ENST00000519368.1_RNA|FGL1_ENST00000522444.1_Splice_Site_p.S21L|FGL1_ENST00000398054.1_Splice_Site_p.S21L|FGL1_ENST00000381841.2_Splice_Site_p.S21L|FGL1_ENST00000381840.2_Splice_Site_p.S21L|FGL1_ENST00000427924.1_Splice_Site_p.S21L|FGL1_ENST00000518650.1_Splice_Site_p.S21L			Q08830	FGL1_HUMAN	fibrinogen-like 1	21					adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.S21L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GAAGCTTACCGAAATTTCCCT	0.358																																						dbGAP											1	Substitution - Missense(1)	NS(1)											73.0	73.0	73.0					8																	17743002		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.63+1C>T	8.37:g.17743002G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.S21L	ENST00000398056.2	37	c.62	CCDS6004.1	8	.	.	.	.	.	.	.	.	.	.	G	3.738	-0.054146	0.07362	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	3.54	1.69	0.24217	.	4.773830	0.00166	N	0.000000	T	0.27967	0.0689	N	0.03608	-0.345	0.22199	N	0.999299	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20042	-1.0287	10	0.22109	T	0.4	.	9.8151	0.40846	0.0:0.5793:0.4207:0.0	.	21;21	Q8NG32;Q08830	.;FGL1_HUMAN	L	21	ENSP00000381133:S21L;ENSP00000429757:S21L;ENSP00000371263:S21L;ENSP00000401952:S21L;ENSP00000381131:S21L;ENSP00000371262:S21L;ENSP00000428430:S21L	ENSP00000221204:S21L	S	-	2	0	FGL1	17787282	0.726000	0.28059	0.575000	0.28536	0.006000	0.05464	0.739000	0.26173	0.483000	0.27608	-0.280000	0.10049	TCG	FGL1	-	NULL	ENSG00000104760		0.358	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL1	HGNC	protein_coding	OTTHUMT00000375254.1	68	0.00	0	G	NM_004467	Missense_Mutation	17743002	17743002	-1	no_errors	ENST00000221204	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.576	A
FHDC1	85462	genome.wustl.edu	37	4	153893678	153893678	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:153893678C>A	ENST00000511601.1	+	11	1556	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L	FHDC1_ENST00000260008.3_Missense_Mutation_p.F456L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	456	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GTACCAAATTCAACAAAGCAG	0.383																																						dbGAP											0													113.0	116.0	115.0					4																	153893678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1368C>A	4.37:g.153893678C>A	ENSP00000427567:p.Phe456Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.F456L	ENST00000511601.1	37	c.1368	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871645	0.51695	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.20463	2.07;2.07	5.42	4.39	0.52855	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.251915	0.46442	D	0.000285	T	0.53302	0.1788	M	0.90542	3.125	0.52501	D	0.999951	D	0.89917	1.0	D	0.97110	1.0	T	0.62817	-0.6774	10	0.62326	D	0.03	.	15.0373	0.71757	0.0:0.9201:0.0:0.0799	.	456	Q9C0D6	FHDC1_HUMAN	L	456	ENSP00000427567:F456L;ENSP00000260008:F456L	ENSP00000260008:F456L	F	+	3	2	FHDC1	154113128	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.068000	0.50018	2.546000	0.85860	0.650000	0.86243	TTC	FHDC1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000137460		0.383	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	113	0.00	0	C	NM_033393		153893678	153893678	+1	no_errors	ENST00000260008	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	1.000	A
FHL1	2273	genome.wustl.edu	37	X	135290060	135290060	+	Missense_Mutation	SNP	C	C	A	rs149670651	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135290060C>A	ENST00000345434.3	+	4	522	c.441C>A	c.(439-441)gaC>gaA	p.D147E	FHL1_ENST00000370676.3_Missense_Mutation_p.D163E|FHL1_ENST00000370690.3_Missense_Mutation_p.D147E|FHL1_ENST00000394153.2_Missense_Mutation_p.D147E|FHL1_ENST00000539015.1_Missense_Mutation_p.D176E|FHL1_ENST00000543669.1_Missense_Mutation_p.D147E|FHL1_ENST00000370683.1_Missense_Mutation_p.D163E|FHL1_ENST00000535737.1_Missense_Mutation_p.D147E|FHL1_ENST00000394155.2_Missense_Mutation_p.D147E			Q13642	FHL1_HUMAN	four and a half LIM domains 1	147	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AAGGGGAGGACTTCTACTGCG	0.498																																						dbGAP											0													136.0	105.0	115.0					X																	135290060		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.441C>A	X.37:g.135290060C>A	ENSP00000071281:p.Asp147Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D147E	ENST00000345434.3	37	c.441	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190437	0.21954	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	4.8	4.8	0.61643	Zinc finger, LIM-type (4);	0.098843	0.64402	D	0.000002	T	0.76278	0.3965	N	0.25031	0.7	0.53005	D	0.999969	B;B;B;B	0.19935	0.008;0.0;0.018;0.04	B;B;B;B	0.26864	0.029;0.032;0.06;0.074	T	0.68239	-0.5461	10	0.17369	T	0.5	.	7.4031	0.26975	0.0:0.7402:0.1666:0.0932	.	176;163;163;147	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	E	147;147;127;147;147;147;147;147;147;147;147;187;147;176;163;163;142;147	ENSP00000377710:D147E;ENSP00000359724:D147E;ENSP00000391779:D147E;ENSP00000389920:D147E;ENSP00000444815:D147E;ENSP00000408038:D147E;ENSP00000413798:D147E;ENSP00000443333:D147E;ENSP00000377709:D147E;ENSP00000412642:D147E;ENSP00000071281:D147E;ENSP00000437673:D176E;ENSP00000359717:D163E;ENSP00000359710:D163E;ENSP00000359708:D147E	ENSP00000071281:D147E	D	+	3	2	FHL1	135117726	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.503000	0.22610	2.103000	0.63969	0.513000	0.50165	GAC	FHL1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000022267		0.498	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	183	0.00	0	C	NM_001449		135290060	135290060	+1	no_errors	ENST00000345434	ensembl	human	known	69_37n	missense	155	11.43	20	SNP	1.000	A
FHL5	9457	genome.wustl.edu	37	6	97063544	97063544	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:97063544A>C	ENST00000326771.2	+	7	1131	c.751A>C	c.(751-753)Aac>Cac	p.N251H	FHL5_ENST00000541107.1_Missense_Mutation_p.N251H	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	251	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CGAATGCTTTAACTGCGGGAA	0.448																																						dbGAP											0													114.0	112.0	112.0					6																	97063544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.751A>C	6.37:g.97063544A>C	ENSP00000326022:p.Asn251His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.N251H	ENST00000326771.2	37	c.751	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896983	0.72639	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.87491	-2.26;-2.26	5.66	5.66	0.87406	Zinc finger, LIM-type (5);	0.000000	0.43919	D	0.000501	D	0.88119	0.6351	L	0.55834	1.745	0.44309	D	0.997189	D	0.67145	0.996	D	0.67231	0.95	D	0.85802	0.1374	10	0.18710	T	0.47	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	251	Q5TD97	FHL5_HUMAN	H	251	ENSP00000442357:N251H;ENSP00000326022:N251H	ENSP00000326022:N251H	N	+	1	0	FHL5	97170265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.146000	0.66826	0.533000	0.62120	AAC	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.448	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	375	0.27	1	A	NM_020482		97063544	97063544	+1	no_errors	ENST00000326771	ensembl	human	known	69_37n	missense	265	11.07	33	SNP	1.000	C
FIBP	9158	genome.wustl.edu	37	11	65655169	65655169	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65655169G>A	ENST00000338369.2	-	3	425	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	CCDC85B_ENST00000312579.2_5'Flank|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000533045.1_Missense_Mutation_p.R102W|FIBP_ENST00000357519.4_Missense_Mutation_p.R105W	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	105					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		AGCACCTCCCGAACAAAGGCC	0.542																																						dbGAP											0													179.0	155.0	163.0					11																	65655169		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.313C>T	11.37:g.65655169G>A	ENSP00000344572:p.Arg105Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	pfam_FIBP	p.R105W	ENST00000338369.2	37	c.313	CCDS8119.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284090	0.80803	.	.	ENSG00000172500	ENST00000338369;ENST00000357519;ENST00000533045	T;T;T	0.38401	1.14;1.14;1.14	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.59905	0.2228	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	T	0.64723	-0.6340	10	0.87932	D	0	-13.39	9.8739	0.41191	0.0:0.0:0.7962:0.2038	.	105;102;105;105	B4DR95;E9PSD3;O43427-2;O43427	.;.;.;FIBP_HUMAN	W	105;105;102	ENSP00000344572:R105W;ENSP00000350124:R105W;ENSP00000434043:R102W	ENSP00000344572:R105W	R	-	1	2	FIBP	65411745	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.349000	0.73013	2.331000	0.79229	0.561000	0.74099	CGG	FIBP	-	pfam_FIBP	ENSG00000172500		0.542	FIBP-001	KNOWN	basic|CCDS	protein_coding	FIBP	HGNC	protein_coding	OTTHUMT00000391575.2	221	0.00	0	G	NM_198897		65655169	65655169	-1	no_errors	ENST00000338369	ensembl	human	known	69_37n	missense	105	26.90	39	SNP	1.000	A
FIGF	2277	genome.wustl.edu	37	X	15376294	15376294	+	Missense_Mutation	SNP	C	C	A	rs78901600		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:15376294C>A	ENST00000297904.3	-	3	752	c.323G>T	c.(322-324)aGa>aTa	p.R108I		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.R108I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GCACTGAGTTCTTTGCCATTC	0.522																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											188.0	158.0	168.0					X																	15376294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.323G>T	X.37:g.15376294C>A	ENSP00000297904:p.Arg108Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z3	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.R108I	ENST00000297904.3	37	c.323	CCDS14166.1	X	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678385	0.68042	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	4.24	0.50183	Platelet-derived growth factor (PDGF) (1);	0.121948	0.64402	D	0.000012	T	0.50667	0.1629	L	0.54323	1.7	0.49299	D	0.999774	D	0.59357	0.985	P	0.48089	0.566	T	0.53486	-0.8432	9	0.87932	D	0	-15.9467	6.5385	0.22367	0.0:0.6947:0.0:0.3053	.	108	O43915	VEGFD_HUMAN	I	108	.	ENSP00000297904:R108I	R	-	2	0	FIGF	15286215	0.956000	0.32656	0.675000	0.29917	0.986000	0.74619	1.799000	0.38824	1.054000	0.40438	0.529000	0.55759	AGA	FIGF	-	pfscan_PD_growth_factor	ENSG00000165197		0.522	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	HGNC	protein_coding	OTTHUMT00000055859.1	308	0.00	0	C	NM_004469		15376294	15376294	-1	no_errors	ENST00000297904	ensembl	human	known	69_37n	missense	187	26.09	66	SNP	0.939	A
FILIP1	27145	genome.wustl.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:76023417G>A	ENST00000237172.7	-	5	2461	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W|FILIP1_ENST00000393004.2_Missense_Mutation_p.R711W|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413																																						dbGAP											1	Substitution - Missense(1)	lung(1)											169.0	175.0	173.0					6																	76023417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2131C>T	6.37:g.76023417G>A	ENSP00000237172:p.Arg711Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.R711W	ENST00000237172.7	37	c.2131	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380895	0.42207	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.22945	1.93;1.94;1.94	5.45	4.58	0.56647	.	0.185091	0.48767	D	0.000173	T	0.23572	0.0570	N	0.22421	0.69	0.26962	N	0.965797	D;D;D	0.89917	0.999;0.999;1.0	P;D;D	0.70227	0.874;0.929;0.968	T	0.16424	-1.0403	10	0.87932	D	0	-16.1962	15.602	0.76631	0.0:0.0:0.8612:0.1388	.	711;711;711	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	711;711;612	ENSP00000376728:R711W;ENSP00000237172:R711W;ENSP00000359037:R612W	ENSP00000237172:R711W	R	-	1	2	FILIP1	76080137	1.000000	0.71417	0.719000	0.30619	0.988000	0.76386	3.391000	0.52530	1.290000	0.44636	0.563000	0.77884	CGG	FILIP1	-	NULL	ENSG00000118407		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	233	0.00	0	G	XM_029179		76023417	76023417	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	missense	195	14.78	34	SNP	0.407	A
FILIP1	27145	genome.wustl.edu	37	6	76072489	76072489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:76072489C>A	ENST00000237172.7	-	3	751	c.421G>T	c.(421-423)Gaa>Taa	p.E141*	RP11-415D17.3_ENST00000609544.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.E42*|RP11-415D17.3_ENST00000419709.1_RNA|FILIP1_ENST00000393004.2_Nonsense_Mutation_p.E141*|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000440220.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	141										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGACATCTTCTCCTATGGAT	0.498																																						dbGAP											0													94.0	94.0	94.0					6																	76072489		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.421G>T	6.37:g.76072489C>A	ENSP00000237172:p.Glu141*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.E141*	ENST00000237172.7	37	c.421	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.965605	0.97967	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.99	5.99	0.97316	.	0.170077	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-19.0458	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	141;141;42	.	ENSP00000237172:E141X	E	-	1	0	FILIP1	76129209	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.576000	0.46033	2.840000	0.97914	0.655000	0.94253	GAA	FILIP1	-	pfam_Cortactin-binding_p2_N	ENSG00000118407		0.498	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	91	0.00	0	C	XM_029179		76072489	76072489	-1	no_errors	ENST00000237172	ensembl	human	known	69_37n	nonsense	47	26.56	17	SNP	1.000	A
FKBP10	60681	genome.wustl.edu	37	17	39977250	39977250	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:39977250C>T	ENST00000321562.4	+	8	1412	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	FKBP10_ENST00000544340.1_Silent_p.I209I	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	436	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACAAGGTGATCGAAGGCCTGG	0.697																																						dbGAP											0													18.0	20.0	19.0					17																	39977250		2199	4298	6497	-	-	-	SO:0001819	synonymous_variant	0			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1308C>T	17.37:g.39977250C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.S240L	ENST00000321562.4	37	c.719	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572747	0.28092	.	.	ENSG00000141756	ENST00000455106	.	.	.	5.55	0.0848	0.14439	.	.	.	.	.	T	0.57666	0.2069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52457	-0.8573	4	.	.	.	-17.1908	10.3689	0.44042	0.0:0.5981:0.0:0.4019	.	.	.	.	L	240	.	.	S	+	2	0	FKBP10	37230776	0.000000	0.05858	0.984000	0.44739	0.990000	0.78478	-0.309000	0.08145	0.061000	0.16311	0.561000	0.74099	TCG	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000141756		0.697	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	24	0.00	0	C	NM_021939		39977250	39977250	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455106	ensembl	human	novel	69_37n	missense	20	20.00	5	SNP	0.966	T
FKBP15	23307	genome.wustl.edu	37	9	115961167	115961167	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115961167G>A	ENST00000238256.3	-	8	802	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	229	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTTCAAGCGAAGCAACTTA	0.333																																						dbGAP											0													74.0	68.0	70.0					9																	115961167		1834	4089	5923	-	-	-	SO:0001583	missense	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.685C>T	9.37:g.115961167G>A	ENSP00000238256:p.Arg229Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.R229C	ENST00000238256.3	37	c.685	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033051	0.75504	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	D;D;D	0.86030	-2.06;-2.06;-2.06	5.47	5.47	0.80525	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	.	.	.	.	D	0.92599	0.7649	M	0.86502	2.82	0.52501	D	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.93178	0.6572	9	0.87932	D	0	-9.1203	12.176	0.54186	0.0:0.0:0.8293:0.1706	.	229;229;229	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	C	254;229;254	ENSP00000416158:R254C;ENSP00000238256:R229C;ENSP00000415733:R254C	ENSP00000238256:R229C	R	-	1	0	FKBP15	115000988	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.174000	0.58256	2.723000	0.93209	0.655000	0.94253	CGC	FKBP15	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000119321		0.333	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		256	0.00	0	G	NM_015258		115961167	115961167	-1	no_errors	ENST00000238256	ensembl	human	known	69_37n	missense	180	10.45	21	SNP	1.000	A
FKBP8	23770	genome.wustl.edu	37	19	18652709	18652709	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:18652709G>A	ENST00000596558.2	-	2	181	c.72C>T	c.(70-72)ttC>ttT	p.F24F	FKBP8_ENST00000453489.2_Silent_p.F53F|FKBP8_ENST00000222308.4_Silent_p.F24F|FKBP8_ENST00000597960.3_Silent_p.F24F|FKBP8_ENST00000610101.1_Silent_p.F24F|FKBP8_ENST00000608443.1_Silent_p.F24F			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	24	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCAGTACCTCGAAGTCCTCGA	0.637																																						dbGAP											0													37.0	31.0	33.0					19																	18652709		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.72C>T	19.37:g.18652709G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.F53	ENST00000596558.2	37	c.159		19																																																																																			FKBP8	-	NULL	ENSG00000105701		0.637	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	46	0.00	0	G	NM_012181		18652709	18652709	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	silent	40	13.04	6	SNP	0.799	A
FLG	2312	genome.wustl.edu	37	1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152280892G>A	ENST00000368799.1	-	3	6505	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2157	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATCTACCGATTGCTCTTG	0.597									Ichthyosis																													dbGAP											0													386.0	328.0	348.0					1																	152280892		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6470C>T	1.37:g.152280892G>A	ENSP00000357789:p.Ser2157Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S2157L	ENST00000368799.1	37	c.6470	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310525	0.10733	.	.	ENSG00000143631	ENST00000368799	T	0.03745	3.82	2.59	-1.71	0.08133	.	.	.	.	.	T	0.01061	0.0035	L	0.55103	1.725	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45483	-0.9258	9	0.26408	T	0.33	.	4.0063	0.09603	0.1329:0.0:0.3602:0.5069	.	2157	P20930	FILA_HUMAN	L	2157	ENSP00000357789:S2157L	ENSP00000357789:S2157L	S	-	2	0	FLG	150547516	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.268000	0.18571	-0.390000	0.07774	-0.663000	0.03849	TCG	FLG	-	NULL	ENSG00000143631		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	447	0.00	0	G	NM_002016		152280892	152280892	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	264	15.46	49	SNP	0.000	A
FLG	2312	genome.wustl.edu	37	1	152283546	152283546	+	Missense_Mutation	SNP	C	C	A	rs374998982		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152283546C>A	ENST00000368799.1	-	3	3851	c.3816G>T	c.(3814-3816)caG>caT	p.Q1272H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1272	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACTGTCCTGGCTAACAC	0.552									Ichthyosis																													dbGAP											0													261.0	244.0	250.0					1																	152283546		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3816G>T	1.37:g.152283546C>A	ENSP00000357789:p.Gln1272His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.Q1272H	ENST00000368799.1	37	c.3816	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.090	0.014625	0.07959	.	.	ENSG00000143631	ENST00000368799	T	0.23348	1.91	2.62	0.639	0.17747	.	.	.	.	.	T	0.28134	0.0694	M	0.78801	2.425	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.03706	-1.1011	9	0.41790	T	0.15	.	4.2781	0.10818	0.0:0.6461:0.0:0.3539	.	1272	P20930	FILA_HUMAN	H	1272	ENSP00000357789:Q1272H	ENSP00000357789:Q1272H	Q	-	3	2	FLG	150550170	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.731000	0.04909	0.425000	0.26087	0.299000	0.19835	CAG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	276	0.00	0	C	NM_002016		152283546	152283546	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	170	23.08	51	SNP	0.001	A
FLAD1	80308	genome.wustl.edu	37	1	154956392	154956392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154956392C>A	ENST00000292180.3	+	1	544	c.222C>A	c.(220-222)tgC>tgA	p.C74*	FLAD1_ENST00000315144.10_De_novo_Start_InFrame|FLAD1_ENST00000368431.3_De_novo_Start_InFrame|FLAD1_ENST00000368432.1_De_novo_Start_InFrame|FLAD1_ENST00000368433.1_Nonsense_Mutation_p.C74*|FLAD1_ENST00000487371.1_3'UTR	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	74					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCCCCCGTGCTTGCGACCCC	0.627																																						dbGAP											0													31.0	32.0	32.0					1																	154956392		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.222C>A	1.37:g.154956392C>A	ENSP00000292180:p.Cys74*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Nonsense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.C74*	ENST00000292180.3	37	c.222	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387617	0.82902	.	.	ENSG00000160688	ENST00000368433;ENST00000292180	.	.	.	5.35	3.13	0.36017	.	0.794096	0.11043	N	0.605901	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.185	8.1715	0.31258	0.0:0.7861:0.0:0.2139	.	.	.	.	X	74	.	ENSP00000292180:C74X	C	+	3	2	FLAD1	153223016	0.004000	0.15560	0.218000	0.23776	0.070000	0.16714	0.576000	0.23744	1.252000	0.44001	0.561000	0.74099	TGC	FLAD1	-	pirsf_FAD_synth_Mopterin-bd	ENSG00000160688		0.627	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	186	0.00	0	C	NM_025207		154956392	154956392	+1	no_errors	ENST00000292180	ensembl	human	known	69_37n	nonsense	129	14.57	22	SNP	0.031	A
FLJ33360	401172	genome.wustl.edu	37	5	6312671	6312671	+	lincRNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:6312671C>A	ENST00000507444.1	-	0	301					NR_028351.1																						AGGCCAATGTCTTCAGTCAAG	0.502																																						dbGAP											0													83.0	95.0	91.0					5																	6312671		2008	4152	6160	-	-	-			0																															5.37:g.6312671C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			CTD-2324F15.2	-	-	ENSG00000250490		0.502	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1	831	0.00	0	C			6312671	6312671	-1	no_errors	ENST00000507444	ensembl	human	putative	69_37n	rna	639	12.35	90	SNP	0.000	A
FLNA	2316	genome.wustl.edu	37	X	153585879	153585879	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:153585879C>A	ENST00000369850.3	-	29	5104	c.4868G>T	c.(4867-4869)gGt>gTt	p.G1623V	FLNA_ENST00000360319.4_Missense_Mutation_p.G1623V|FLNA_ENST00000422373.1_Missense_Mutation_p.G1623V|FLNA_ENST00000344736.4_Missense_Mutation_p.G1623V|FLNA_ENST00000369856.3_5'UTR	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1623					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGTCACCACCGTACTTGAT	0.617																																						dbGAP											0													148.0	142.0	144.0					X																	153585879		2181	4238	6419	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4868G>T	X.37:g.153585879C>A	ENSP00000358866:p.Gly1623Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1623V	ENST00000369850.3	37	c.4868	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430413	0.83776	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92495	-1.94;-1.94;-1.94;-3.05	5.22	5.22	0.72569	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98936	1.0789	10	0.87932	D	0	.	18.1785	0.89769	0.0:1.0:0.0:0.0	.	1623;1623	P21333-2;P21333	.;FLNA_HUMAN	V	1623;1596;1623;1623;1623	ENSP00000353467:G1623V;ENSP00000416926:G1623V;ENSP00000358866:G1623V;ENSP00000358863:G1623V	ENSP00000358863:G1623V	G	-	2	0	FLNA	153239073	1.000000	0.71417	0.942000	0.38095	0.735000	0.41995	7.737000	0.84957	2.317000	0.78254	0.529000	0.55759	GGT	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	30	0.00	0	C			153585879	153585879	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	A
FLNA	2316	genome.wustl.edu	37	X	153593613	153593613	+	Missense_Mutation	SNP	C	C	T	rs143873938		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:153593613C>T	ENST00000369850.3	-	11	1818	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	FLNA_ENST00000360319.4_Missense_Mutation_p.V528M|FLNA_ENST00000422373.1_Missense_Mutation_p.V528M|FLNA_ENST00000344736.4_Missense_Mutation_p.V528M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	528			V -> M (in PVNH1; dbSNP:rs143873938). {ECO:0000269|PubMed:12410386}.		actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTGCTTCACGCGCTCCTCT	0.622													C|||	32	0.00847682	0.0	0.0	3775	,	,		12984	0.0317		0.0	False		,,,				2504	0.0					dbGAP											0			GRCh37	CM023918	FLNA	M	rs143873938						88.0	92.0	91.0					X																	153593613		2037	4152	6189	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1582G>A	X.37:g.153593613C>T	ENSP00000358866:p.Val528Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.V528M	ENST00000369850.3	37	c.1582	CCDS48194.1	X	22	0.013261000602772756	0	0.0	0	0.0	15	0.02697841726618705	0	0.0	C	9.453	1.091160	0.20471	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.3	4.3	0.51218	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.193255	0.33005	U	0.005382	T	0.79656	0.4483	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.67725	0.807;0.953	D	0.86324	0.1694	10	0.87932	D	0	.	16.3879	0.83522	0.0:1.0:0.0:0.0	.	528;528	P21333-2;P21333	.;FLNA_HUMAN	M	528;501;528;528;528	ENSP00000353467:V528M;ENSP00000416926:V528M;ENSP00000358866:V528M;ENSP00000358863:V528M	ENSP00000358863:V528M	V	-	1	0	FLNA	153246807	0.038000	0.19896	0.879000	0.34478	0.671000	0.39405	0.288000	0.18939	1.863000	0.54032	0.534000	0.68092	GTG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	16	0.00	0	C			153593613	153593613	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.967	T
FLVCR1	28982	genome.wustl.edu	37	1	213046102	213046102	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:213046102G>A	ENST00000366971.4	+	3	1164	c.966G>A	c.(964-966)aaG>aaA	p.K322K		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	322					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		ACTCCTATAAGAAATCAATAA	0.393																																					Esophageal Squamous(199;2235 2952 19233 26256)	dbGAP											0													74.0	81.0	79.0					1																	213046102		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.966G>A	1.37:g.213046102G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K322	ENST00000366971.4	37	c.966	CCDS1510.1	1																																																																																			FLVCR1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000162769		0.393	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	225	0.00	0	G	NM_014053		213046102	213046102	+1	no_errors	ENST00000366971	ensembl	human	known	69_37n	silent	214	11.52	28	SNP	0.155	A
FLVCR1	28982	genome.wustl.edu	37	1	213061314	213061314	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:213061314C>A	ENST00000366971.4	+	6	1476	c.1278C>A	c.(1276-1278)atC>atA	p.I426I	FLVCR1_ENST00000483790.1_Intron	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	426					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GATATATTATCATCGTGTTTG	0.328																																					Esophageal Squamous(199;2235 2952 19233 26256)	dbGAP											0													170.0	168.0	169.0					1																	213061314		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1278C>A	1.37:g.213061314C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE16|Q86XY9|Q9NVR9	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S225*	ENST00000366971.4	37	c.674	CCDS1510.1	1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427839	0.01117	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.37	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.5101	2.7223	0.05204	0.1769:0.5441:0.1223:0.1568	.	.	.	.	X	225	.	.	S	+	2	0	FLVCR1	211127937	0.000000	0.05858	0.041000	0.18516	0.051000	0.14879	-1.322000	0.02695	0.651000	0.30788	-0.137000	0.14449	TCA	FLVCR1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000162769		0.328	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR1	HGNC	protein_coding	OTTHUMT00000089678.2	273	0.36	1	C	NM_014053		213061314	213061314	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419102	ensembl	human	novel	69_37n	nonsense	294	10.09	33	SNP	0.001	A
FMN2	56776	genome.wustl.edu	37	1	240519171	240519171	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:240519171G>A	ENST00000319653.9	+	14	5051	c.4821G>A	c.(4819-4821)caG>caA	p.Q1607Q	FMN2_ENST00000545751.1_Silent_p.Q203Q	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1607	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCATATGCAGCCTTTCAAGG	0.343																																						dbGAP											0													84.0	77.0	80.0					1																	240519171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4821G>A	1.37:g.240519171G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.Q1607	ENST00000319653.9	37	c.4821	CCDS31069.2	1																																																																																			FMN2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.343	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	300	0.00	0	G	XM_371352		240519171	240519171	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	261	13.49	41	SNP	0.999	A
FMN2	56776	genome.wustl.edu	37	1	240601500	240601500	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:240601500C>A	ENST00000319653.9	+	16	5280	c.5050C>A	c.(5050-5052)Cta>Ata	p.L1684I	FMN2_ENST00000545751.1_Missense_Mutation_p.L280I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1684	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAACTTCTTCTACAAGAGAG	0.408																																						dbGAP											0													104.0	103.0	103.0					1																	240601500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5050C>A	1.37:g.240601500C>A	ENSP00000318884:p.Leu1684Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.L1684I	ENST00000319653.9	37	c.5050	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987139	0.53934	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.42900	0.96;0.96	5.91	5.91	0.95273	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.49305	D	0.000148	T	0.54886	0.1886	L	0.41573	1.285	0.80722	D	1	D;D;B	0.76494	0.997;0.999;0.374	D;D;B	0.80764	0.991;0.994;0.339	T	0.48725	-0.9010	10	0.41790	T	0.15	.	14.4466	0.67356	0.0:0.93:0.0:0.07	.	280;313;1684	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	I	1684;280;311;160	ENSP00000318884:L1684I;ENSP00000437918:L280I	ENSP00000318884:L1684I	L	+	1	2	FMN2	238668123	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.303000	0.33470	2.809000	0.96659	0.579000	0.79373	CTA	FMN2	-	superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	122	0.00	0	C	XM_371352		240601500	240601500	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	115	13.53	18	SNP	1.000	A
FMNL2	114793	genome.wustl.edu	37	2	153471390	153471390	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:153471390A>C	ENST00000288670.9	+	12	1455	c.1088A>C	c.(1087-1089)aAg>aCg	p.K363T		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	363	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGAGTGACAAGCTTCAAGTC	0.433																																						dbGAP											0													93.0	92.0	92.0					2																	153471390		1981	4200	6181	-	-	-	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1088A>C	2.37:g.153471390A>C	ENSP00000288670:p.Lys363Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour	p.K363T	ENST00000288670.9	37	c.1088	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740063	0.89573	.	.	ENSG00000157827	ENST00000288670	D	0.83837	-1.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.85873	0.5798	L	0.39514	1.22	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81829	-0.0753	10	0.11794	T	0.64	.	15.6216	0.76810	1.0:0.0:0.0:0.0	.	363	Q96PY5-3	.	T	363	ENSP00000288670:K363T	ENSP00000288670:K363T	K	+	2	0	FMNL2	153179636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.458000	0.80787	2.153000	0.67306	0.528000	0.53228	AAG	FMNL2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000157827		0.433	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333582.2	175	0.00	0	A	NM_052905		153471390	153471390	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	missense	141	12.42	20	SNP	1.000	C
FMNL2	114793	genome.wustl.edu	37	2	153475400	153475400	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:153475400G>T	ENST00000288670.9	+	14	1722	c.1355G>T	c.(1354-1356)aGa>aTa	p.R452I	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	452	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CACACATTAAGAAAAATGGTC	0.338																																						dbGAP											0													38.0	37.0	37.0					2																	153475400		1833	4076	5909	-	-	-	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1355G>T	2.37:g.153475400G>T	ENSP00000288670:p.Arg452Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour	p.R452I	ENST00000288670.9	37	c.1355	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.094504	0.94149	.	.	ENSG00000157827	ENST00000288670	D	0.85258	-1.96	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	M	0.79475	2.455	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.92310	0.5857	10	0.52906	T	0.07	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	452	Q96PY5-3	.	I	452	ENSP00000288670:R452I	ENSP00000288670:R452I	R	+	2	0	FMNL2	153183646	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.641000	0.83368	2.641000	0.89580	0.650000	0.86243	AGA	FMNL2	-	pfam_Drf_FH3	ENSG00000157827		0.338	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333582.2	58	0.00	0	G	NM_052905		153475400	153475400	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	1.000	T
FMNL3	91010	genome.wustl.edu	37	12	50047068	50047068	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50047068G>A	ENST00000293590.5	-	13	1497	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	FMNL3_ENST00000335154.5_Missense_Mutation_p.R422W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W			Q8IVF7	FMNL3_HUMAN	formin-like 3	422	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTGCCACCCGCATCATGTTT	0.542																																						dbGAP											0													180.0	183.0	182.0					12																	50047068		1987	4166	6153	-	-	-	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1264C>T	12.37:g.50047068G>A	ENSP00000293590:p.Arg422Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.R422W	ENST00000293590.5	37	c.1264		12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267087	0.80469	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.58	3.58	0.41010	.	0.113971	0.56097	D	0.000029	T	0.49081	0.1536	M	0.63843	1.955	0.46437	D	0.999047	D;D	0.89917	0.987;1.0	P;D	0.70016	0.534;0.967	T	0.52208	-0.8606	10	0.87932	D	0	.	11.3304	0.49473	0.0:0.1371:0.7209:0.142	.	371;422	Q8IVF7-2;Q8IVF7-3	.;.	W	422;422;371;422	ENSP00000335655:R422W;ENSP00000447479:R422W;ENSP00000344311:R371W;ENSP00000293590:R422W	ENSP00000293590:R422W	R	-	1	2	FMNL3	48333335	0.345000	0.24835	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.455000	0.47813	0.655000	0.94253	CGG	FMNL3	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000161791		0.542	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		224	0.00	0	G	NM_175736		50047068	50047068	-1	no_errors	ENST00000293590	ensembl	human	known	69_37n	missense	112	16.30	22	SNP	1.000	A
FMO1	2326	genome.wustl.edu	37	1	171236851	171236851	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:171236851T>G	ENST00000354841.4	+	2	433	c.302T>G	c.(301-303)cTg>cGg	p.L101R	FMO1_ENST00000367750.3_Missense_Mutation_p.L101R|FMO1_ENST00000402921.2_Intron|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	101					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTTGACCTTCTGAAACACATT	0.383																																						dbGAP											0													89.0	87.0	87.0					1																	171236851		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.302T>G	1.37:g.171236851T>G	ENSP00000346901:p.Leu101Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.L101R	ENST00000354841.4	37	c.302	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440878	0.25900	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000354841	T;T;T	0.65178	-0.14;-0.14;-0.14	5.68	1.95	0.26073	.	0.766918	0.12488	N	0.464505	T	0.36248	0.0960	L	0.45581	1.43	0.09310	N	0.999999	B;B	0.26120	0.065;0.142	B;B	0.35971	0.215;0.094	T	0.41893	-0.9483	10	0.30854	T	0.27	-8.5205	8.5388	0.33379	0.1171:0.0:0.424:0.4589	.	101;101	B2RCG5;Q01740	.;FMO1_HUMAN	R	101	ENSP00000356724:L101R;ENSP00000406982:L101R;ENSP00000346901:L101R	ENSP00000346901:L101R	L	+	2	0	FMO1	169503475	0.000000	0.05858	0.725000	0.30721	0.872000	0.50106	0.022000	0.13511	0.059000	0.16252	0.533000	0.62120	CTG	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000010932		0.383	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	177	0.00	0	T	NM_002021		171236851	171236851	+1	no_errors	ENST00000354841	ensembl	human	known	69_37n	missense	94	30.37	41	SNP	0.013	G
FMO4	2329	genome.wustl.edu	37	1	171293312	171293312	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:171293312C>A	ENST00000367749.3	+	5	687	c.357C>A	c.(355-357)ttC>ttA	p.F119L	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	119					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTCCAGACTTCTCCGAAACTG	0.463																																					Pancreas(24;816 862 7754 7993 32832)	dbGAP											0													353.0	328.0	336.0					1																	171293312		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.357C>A	1.37:g.171293312C>A	ENSP00000356723:p.Phe119Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.F119L	ENST00000367749.3	37	c.357	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397372	0.62177	.	.	ENSG00000076258	ENST00000367749	T	0.56776	0.44	5.69	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.69823	2.125	0.32893	D	0.512108	D	0.76494	0.999	D	0.70227	0.968	T	0.59118	-0.7514	10	0.59425	D	0.04	-23.6709	9.1488	0.36951	0.0:0.6467:0.0:0.3533	.	119	P31512	FMO4_HUMAN	L	119	ENSP00000356723:F119L	ENSP00000356723:F119L	F	+	3	2	FMO4	169559936	0.013000	0.17824	0.834000	0.33040	0.404000	0.30871	0.230000	0.17852	0.765000	0.33221	0.655000	0.94253	TTC	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000076258		0.463	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	556	0.00	0	C	NM_002022		171293312	171293312	+1	no_errors	ENST00000367749	ensembl	human	known	69_37n	missense	318	14.29	53	SNP	0.329	A
FMO5	2330	genome.wustl.edu	37	1	146696664	146696664	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:146696664G>T	ENST00000254090.4	-	2	352				FMO5_ENST00000369272.3_5'UTR|FMO5_ENST00000465173.1_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTGTCCTAAAGAAAGGATGAC	0.453																																						dbGAP											0													84.0	79.0	81.0					1																	146696664		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.37-6C>A	1.37:g.146696664G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBG1|C9JJD1|Q8IV22	RNA	SNP	-	NULL	ENST00000254090.4	37	NULL	CCDS926.1	1																																																																																			FMO5	-	-	ENSG00000131781		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	177	0.00	0	G	NM_001461		146696664	146696664	-1	no_errors	ENST00000465173	ensembl	human	known	69_37n	rna	114	26.45	41	SNP	0.007	T
FMO4	2329	genome.wustl.edu	37	1	171300887	171300887	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:171300887A>G	ENST00000367749.3	+	6	923	c.593A>G	c.(592-594)gAc>gGc	p.D198G	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	198					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTGGAGGAGACATTGCTGTG	0.463																																					Pancreas(24;816 862 7754 7993 32832)	dbGAP											0													208.0	196.0	200.0					1																	171300887		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.593A>G	1.37:g.171300887A>G	ENSP00000356723:p.Asp198Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.D198G	ENST00000367749.3	37	c.593	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923239	0.73213	.	.	ENSG00000076258	ENST00000367749	T	0.64085	-0.08	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.82416	0.5032	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87974	0.2738	10	0.72032	D	0.01	-23.8135	15.2189	0.73296	1.0:0.0:0.0:0.0	.	198	P31512	FMO4_HUMAN	G	198	ENSP00000356723:D198G	ENSP00000356723:D198G	D	+	2	0	FMO4	169567511	1.000000	0.71417	0.782000	0.31804	0.376000	0.30014	9.233000	0.95337	2.074000	0.62210	0.533000	0.62120	GAC	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000076258		0.463	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	441	0.45	2	A	NM_002022		171300887	171300887	+1	no_errors	ENST00000367749	ensembl	human	known	69_37n	missense	229	15.07	41	SNP	0.998	G
FN1	2335	genome.wustl.edu	37	2	216272861	216272861	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:216272861G>A	ENST00000359671.1	-	17	2753	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	FN1_ENST00000346544.3_Missense_Mutation_p.R830C|FN1_ENST00000421182.1_Missense_Mutation_p.R830C|FN1_ENST00000357009.2_Missense_Mutation_p.R830C|FN1_ENST00000345488.5_Missense_Mutation_p.R830C|FN1_ENST00000446046.1_Missense_Mutation_p.R830C|FN1_ENST00000336916.4_Missense_Mutation_p.R830C|FN1_ENST00000356005.4_Missense_Mutation_p.R830C|FN1_ENST00000354785.4_Missense_Mutation_p.R830C|FN1_ENST00000323926.6_Missense_Mutation_p.R830C|FN1_ENST00000357867.4_Missense_Mutation_p.R830C|FN1_ENST00000443816.1_Missense_Mutation_p.R830C|FN1_ENST00000432072.2_Missense_Mutation_p.R830C			P02751	FINC_HUMAN	fibronectin 1	830	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGCTCCAGCGAACAACAATT	0.527																																						dbGAP											0													88.0	93.0	91.0					2																	216272861		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2488C>T	2.37:g.216272861G>A	ENSP00000352696:p.Arg830Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.R830C	ENST00000359671.1	37	c.2488		2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992833	0.74703	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.93	3.03	0.35002	.	0.627416	0.16140	N	0.227744	T	0.71151	0.3306	L	0.57536	1.79	0.40712	D	0.982588	D;P;D;P;D;D;D;D;D;P	0.89917	0.972;0.952;0.994;0.914;1.0;0.987;0.995;0.986;0.976;0.916	P;P;P;P;D;P;D;P;P;P	0.66602	0.742;0.683;0.729;0.493;0.945;0.781;0.93;0.711;0.595;0.683	T	0.72944	-0.4138	10	0.87932	D	0	.	15.2873	0.73838	0.0:0.0:0.3422:0.6577	.	830;830;830;830;830;830;830;830;830;830	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	C	830	ENSP00000394423:R830C;ENSP00000323534:R830C;ENSP00000338200:R830C;ENSP00000350534:R830C;ENSP00000346839:R830C;ENSP00000352696:R830C;ENSP00000265312:R830C;ENSP00000273049:R830C;ENSP00000349509:R830C;ENSP00000410422:R830C;ENSP00000415018:R830C;ENSP00000399538:R830C;ENSP00000348285:R830C	ENSP00000265313:R830C	R	-	1	0	FN1	215981106	1.000000	0.71417	0.749000	0.31150	0.957000	0.61999	2.464000	0.45067	0.342000	0.23796	0.655000	0.94253	CGC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.527	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		179	0.00	0	G	NM_212476		216272861	216272861	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	96	28.68	39	SNP	0.993	A
FN1	2335	genome.wustl.edu	37	2	216274748	216274748	+	Silent	SNP	G	G	A	rs368252734		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:216274748G>A	ENST00000359671.1	-	14	2296	c.2031C>T	c.(2029-2031)taC>taT	p.Y677Y	FN1_ENST00000346544.3_Silent_p.Y677Y|FN1_ENST00000421182.1_Silent_p.Y677Y|FN1_ENST00000357009.2_Silent_p.Y677Y|FN1_ENST00000345488.5_Silent_p.Y677Y|FN1_ENST00000446046.1_Silent_p.Y677Y|FN1_ENST00000336916.4_Silent_p.Y677Y|FN1_ENST00000356005.4_Silent_p.Y677Y|FN1_ENST00000354785.4_Silent_p.Y677Y|FN1_ENST00000323926.6_Silent_p.Y677Y|FN1_ENST00000357867.4_Silent_p.Y677Y|FN1_ENST00000443816.1_Silent_p.Y677Y|FN1_ENST00000432072.2_Silent_p.Y677Y			P02751	FINC_HUMAN	fibronectin 1	677	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCTGGCCCTCGTATACCACAC	0.502																																						dbGAP											0													239.0	228.0	232.0					2																	216274748		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2031C>T	2.37:g.216274748G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.Y677	ENST00000359671.1	37	c.2031		2																																																																																			FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.502	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		1067	0.09	1	G	NM_212476		216274748	216274748	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	silent	587	12.31	83	SNP	0.835	A
FNBP1	23048	genome.wustl.edu	37	9	132740795	132740795	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:132740795G>T	ENST00000446176.2	-	4	480	c.294C>A	c.(292-294)atC>atA	p.I98I	FNBP1_ENST00000355681.3_Silent_p.I98I|FNBP1_ENST00000420781.1_Silent_p.I98I	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	98	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		AGTCCACAATGATCTGTGATG	0.403			T	MLL	AML																																	dbGAP		Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													131.0	124.0	126.0					9																	132740795		1979	4166	6145	-	-	-	SO:0001819	synonymous_variant	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.294C>A	9.37:g.132740795G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Nonsense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_SH3_domain	p.S60*	ENST00000446176.2	37	c.179	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	G	8.562	0.878025	0.17395	.	.	ENSG00000187239	ENST00000449089	.	.	.	5.78	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.5029	4.9027	0.13782	0.2858:0.0:0.5626:0.1516	.	.	.	.	X	60	.	.	S	-	2	0	FNBP1	131780616	1.000000	0.71417	0.792000	0.32020	0.715000	0.41141	3.320000	0.51991	0.814000	0.34374	0.585000	0.79938	TCA	FNBP1	-	NULL	ENSG00000187239		0.403	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	266	0.00	0	G			132740795	132740795	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000449089	ensembl	human	known	69_37n	nonsense	187	34.39	98	SNP	0.983	T
FNBP1L	54874	genome.wustl.edu	37	1	94016635	94016635	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:94016635G>A	ENST00000271234.7	+	16	1934	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	FNBP1L_ENST00000370256.4_Missense_Mutation_p.D590N|FNBP1L_ENST00000260506.8_Missense_Mutation_p.D537N|FNBP1L_ENST00000604705.1_Missense_Mutation_p.D595N|FNBP1L_ENST00000370253.2_Missense_Mutation_p.D537N	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	595	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GTCATACATAGATGTAACTCT	0.423																																						dbGAP											0													103.0	106.0	105.0					1																	94016635		1942	4154	6096	-	-	-	SO:0001583	missense	0				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1783G>A	1.37:g.94016635G>A	ENSP00000271234:p.Asp595Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.D595N	ENST00000271234.7	37	c.1783	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.734344	0.96865	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449	T;T;T	0.52983	0.64;0.64;0.77	6.06	6.06	0.98353	.	0.180500	0.64402	D	0.000016	T	0.44265	0.1285	L	0.41415	1.275	0.80722	D	1	P;P;P;B	0.47762	0.787;0.9;0.852;0.006	B;P;P;B	0.49012	0.298;0.598;0.477;0.026	T	0.33954	-0.9848	10	0.56958	D	0.05	-41.642	20.6282	0.99521	0.0:0.0:1.0:0.0	.	147;415;537;537	B4DKY5;B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.;.	N	590;595;537;590;404	ENSP00000359278:D590N;ENSP00000271234:D595N;ENSP00000260506:D537N	ENSP00000260506:D537N	D	+	1	0	FNBP1L	93789223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.871000	0.98454	0.655000	0.94253	GAT	FNBP1L	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000137942		0.423	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	FNBP1L	HGNC	protein_coding		552	0.00	0	G	NM_017737		94016635	94016635	+1	no_errors	ENST00000271234	ensembl	human	known	69_37n	missense	316	11.24	40	SNP	1.000	A
FNBP4	23360	genome.wustl.edu	37	11	47744641	47744641	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:47744641G>A	ENST00000263773.5	-	15	2704	c.2692C>T	c.(2692-2694)Cct>Tct	p.P898S		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	898						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTAGCGGTAGGCACAGCACCT	0.532																																						dbGAP											0													33.0	37.0	35.0					11																	47744641		2076	4204	6280	-	-	-	SO:0001583	missense	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2692C>T	11.37:g.47744641G>A	ENSP00000263773:p.Pro898Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.P898S	ENST00000263773.5	37	c.2692	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487548	0.26686	.	.	ENSG00000109920	ENST00000263773	T	0.38077	1.16	5.27	2.18	0.27775	.	0.297982	0.37348	N	0.002127	T	0.22742	0.0549	L	0.29908	0.895	0.27935	N	0.937738	B	0.15473	0.013	B	0.10450	0.005	T	0.13522	-1.0506	10	0.52906	T	0.07	-6.7782	5.6313	0.17512	0.0758:0.1426:0.6426:0.139	.	898	Q8N3X1	FNBP4_HUMAN	S	898	ENSP00000263773:P898S	ENSP00000263773:P898S	P	-	1	0	FNBP4	47701217	1.000000	0.71417	0.800000	0.32199	0.421000	0.31385	3.177000	0.50871	0.586000	0.29626	0.555000	0.69702	CCT	FNBP4	-	NULL	ENSG00000109920		0.532	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	104	0.00	0	G			47744641	47744641	-1	no_errors	ENST00000263773	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.611	A
FNBP4	23360	genome.wustl.edu	37	11	47755644	47755644	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:47755644T>G	ENST00000263773.5	-	10	1631	c.1619A>C	c.(1618-1620)aAa>aCa	p.K540T	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	540						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAACTCGAATTTACTTGTCAG	0.323																																						dbGAP											0													116.0	112.0	113.0					11																	47755644		1836	4093	5929	-	-	-	SO:0001583	missense	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1619A>C	11.37:g.47755644T>G	ENSP00000263773:p.Lys540Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.K540T	ENST00000263773.5	37	c.1619	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757602	0.89843	.	.	ENSG00000109920	ENST00000263773	T	0.11495	2.77	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01074	-1.1460	10	0.87932	D	0	-28.0252	16.542	0.84395	0.0:0.0:0.0:1.0	.	540	Q8N3X1	FNBP4_HUMAN	T	540	ENSP00000263773:K540T	ENSP00000263773:K540T	K	-	2	0	FNBP4	47712220	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.018000	0.88722	2.304000	0.77564	0.528000	0.53228	AAA	FNBP4	-	NULL	ENSG00000109920		0.323	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	306	0.00	0	T			47755644	47755644	-1	no_errors	ENST00000263773	ensembl	human	known	69_37n	missense	230	26.52	83	SNP	1.000	G
FNDC1	84624	genome.wustl.edu	37	6	159653123	159653123	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:159653123G>A	ENST00000297267.9	+	11	1779	c.1579G>A	c.(1579-1581)Gcc>Acc	p.A527T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A464T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	527					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCAGCTTCGCGCCAAGAAGGC	0.567																																						dbGAP											0													23.0	26.0	25.0					6																	159653123		1872	4106	5978	-	-	-	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1579G>A	6.37:g.159653123G>A	ENSP00000297267:p.Ala527Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A527T	ENST00000297267.9	37	c.1579	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.752376|1.752376	0.31046|0.31046	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|T	0.07908|0.02890	3.15;4.0|4.12	5.79|5.79	-1.71|-1.71	0.08133|0.08133	.|.	0.733373|.	0.13120|.	N|.	0.412292|.	T|T	0.00384|0.00384	0.0012|0.0012	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.22604|.	0.072;0.026|.	B;B|.	0.13407|.	0.009;0.004|.	T|T	0.43988|0.43988	-0.9357|-0.9357	10|7	0.10636|0.33940	T|T	0.68|0.23	-3.0125|-3.0125	1.0127|1.0127	0.01501|0.01501	0.2196:0.2782:0.1153:0.3869|0.2196:0.2782:0.1153:0.3869	.|.	464;527|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	527;464|422	ENSP00000297267:A527T;ENSP00000342460:A464T|ENSP00000333297:R422H	ENSP00000297267:A527T|ENSP00000333297:R422H	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159573113|159573113	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	0.116000|0.116000	0.15561|0.15561	-0.395000|-0.395000	0.07715|0.07715	-0.165000|-0.165000	0.13383|0.13383	GCC|CGC	FNDC1	-	NULL	ENSG00000164694		0.567	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	88	0.00	0	G	NM_032532		159653123	159653123	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	missense	26	30.77	12	SNP	0.003	A
FNDC3A	22862	genome.wustl.edu	37	13	49710545	49710545	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:49710545T>G	ENST00000492622.2	+	6	873	c.568T>G	c.(568-570)Ttg>Gtg	p.L190V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.L134V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.L190V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	190					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GCAGAAAAAATTGAAGGATCG	0.378																																						dbGAP											0													87.0	85.0	86.0					13																	49710545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.568T>G	13.37:g.49710545T>G	ENSP00000417257:p.Leu190Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L190V	ENST00000492622.2	37	c.568	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590726	0.46214	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.51071	0.72;0.72;0.72	5.61	4.41	0.53225	.	0.000000	0.49305	D	0.000147	T	0.60143	0.2246	M	0.69823	2.125	0.46678	D	0.999156	D;D;P	0.67145	0.99;0.996;0.777	P;P;B	0.61800	0.793;0.894;0.297	T	0.59166	-0.7505	10	0.42905	T	0.14	-0.8169	8.2888	0.31946	0.0:0.1536:0.0:0.8464	.	134;190;190	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	V	190;126;190;134	ENSP00000417257:L190V;ENSP00000441831:L190V;ENSP00000381362:L134V	ENSP00000338579:L126V	L	+	1	2	FNDC3A	48608546	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.715000	0.47210	0.939000	0.37446	0.460000	0.39030	TTG	FNDC3A	-	NULL	ENSG00000102531		0.378	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	206	0.00	0	T	NM_014923		49710545	49710545	+1	no_errors	ENST00000492622	ensembl	human	known	69_37n	missense	104	34.59	55	SNP	1.000	G
FNDC3A	22862	genome.wustl.edu	37	13	49749515	49749515	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:49749515A>G	ENST00000492622.2	+	13	1673	c.1368A>G	c.(1366-1368)gaA>gaG	p.E456E	FNDC3A_ENST00000398316.3_Silent_p.E400E|FNDC3A_ENST00000541916.1_Silent_p.E456E	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	456	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTTTTAGTGAAGAAGTCTTAT	0.353																																						dbGAP											0													70.0	66.0	67.0					13																	49749515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1368A>G	13.37:g.49749515A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E456	ENST00000492622.2	37	c.1368	CCDS41886.1	13																																																																																			FNDC3A	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.353	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	123	0.00	0	A	NM_014923		49749515	49749515	+1	no_errors	ENST00000492622	ensembl	human	known	69_37n	silent	56	25.33	19	SNP	1.000	G
FNIP1	96459	genome.wustl.edu	37	5	131034637	131034637	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:131034637C>T	ENST00000510461.1	-	11	1270	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	FNIP1_ENST00000511848.1_Missense_Mutation_p.R392Q|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.R347Q|FNIP1_ENST00000307968.7_Missense_Mutation_p.R364Q	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	392					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ATCAACTATTCGATTATATGC	0.348																																						dbGAP											0													165.0	156.0	159.0					5																	131034637		2203	4300	6503	-	-	-	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1175G>A	5.37:g.131034637C>T	ENSP00000421985:p.Arg392Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.R392Q	ENST00000510461.1	37	c.1175	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987619	0.93106	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.35	5.35	0.76521	.	.	.	.	.	T	0.45236	0.1332	M	0.72118	2.19	0.49051	D	0.99974	P;P;D;D	0.63880	0.948;0.733;0.993;0.988	B;B;P;P	0.55055	0.322;0.131;0.605;0.767	T	0.23904	-1.0175	9	0.28530	T	0.3	-4.8152	12.7534	0.57320	0.0:0.9247:0.0:0.0753	.	392;392;364;392	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	Q	364;347;152;392;392	ENSP00000309266:R364Q;ENSP00000310453:R347Q;ENSP00000421985:R392Q;ENSP00000425619:R392Q	ENSP00000310453:R347Q	R	-	2	0	FNIP1	131062536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.639000	0.67868	2.652000	0.90054	0.650000	0.86243	CGA	FNIP1	-	NULL	ENSG00000217128		0.348	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	415	0.00	0	C	NM_133372		131034637	131034637	-1	no_errors	ENST00000510461	ensembl	human	known	69_37n	missense	192	10.28	22	SNP	1.000	T
FNTA	2339	genome.wustl.edu	37	8	42932444	42932444	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:42932444G>T	ENST00000302279.3	+	6	913	c.719G>T	c.(718-720)aGa>aTa	p.R240I	RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.R197I|FNTA_ENST00000529687.1_Missense_Mutation_p.R89I|FNTA_ENST00000342116.4_Missense_Mutation_p.R173I	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	240					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGAACCAAAGATACTTCGTT	0.383																																						dbGAP											0													123.0	113.0	116.0					8																	42932444		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.719G>T	8.37:g.42932444G>T	ENSP00000303423:p.Arg240Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.R240I	ENST00000302279.3	37	c.719	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.188739	0.94923	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000533336	.	.	.	5.35	5.35	0.76521	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.88032	0.6328	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91907	0.5536	9	0.87932	D	0	-13.8573	16.5574	0.84490	0.0:0.0:1.0:0.0	.	173;149;240	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	I	197;240;173;178	.	ENSP00000303423:R240I	R	+	2	0	FNTA;RP11-598P20.5	43051601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.773000	0.98989	2.502000	0.84385	0.650000	0.86243	AGA	FNTA	-	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	ENSG00000168522		0.383	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	164	0.00	0	G	NM_002027		42932444	42932444	+1	no_errors	ENST00000302279	ensembl	human	known	69_37n	missense	163	16.84	33	SNP	1.000	T
FOLH1	2346	genome.wustl.edu	37	11	49178274	49178274	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:49178274T>G	ENST00000256999.2	-	15	1878	c.1618A>C	c.(1618-1620)Aat>Cat	p.N540H	FOLH1_ENST00000343844.4_Missense_Mutation_p.N232H|FOLH1_ENST00000356696.3_Missense_Mutation_p.N540H|FOLH1_ENST00000340334.7_Missense_Mutation_p.N525H|FOLH1_ENST00000533034.1_Missense_Mutation_p.N525H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	540	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CTTACCCAATTTTTAGTATAC	0.323																																						dbGAP											0													84.0	92.0	89.0					11																	49178274		2201	4296	6497	-	-	-	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1618A>C	11.37:g.49178274T>G	ENSP00000256999:p.Asn540His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.N540H	ENST00000256999.2	37	c.1618	CCDS7946.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.51|15.51	2.853555|2.853555	0.51270|0.51270	.|.	.|.	ENSG00000086205|ENSG00000086205	ENST00000389724|ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.|T;T;T;T;T	.|0.39787	.|1.06;1.06;1.06;1.06;1.06	3.78|3.78	1.34|1.34	0.21922|0.21922	.|.	.|0.278583	.|0.30528	.|N	.|0.009439	T|T	0.50086|0.50086	0.1595|0.1595	L|L	0.55213|0.55213	1.73|1.73	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;P;B	.|0.76494	.|0.998;0.999;0.943;0.406	.|D;D;P;B	.|0.67382	.|0.951;0.944;0.754;0.436	T|T	0.45571|0.45571	-0.9252|-0.9252	6|10	0.54805|0.72032	T|D	0.06|0.01	.|.	4.9393|4.9393	0.13958|0.13958	0.0:0.1059:0.1874:0.7067|0.0:0.1059:0.1874:0.7067	.|.	.|525;525;540;540	.|Q04609-9;Q04609-7;Q04609-8;Q04609	.|.;.;.;FOLH1_HUMAN	Q|H	543|540;540;525;232;525	.|ENSP00000256999:N540H;ENSP00000349129:N540H;ENSP00000344131:N525H;ENSP00000344086:N232H;ENSP00000431463:N525H	ENSP00000374374:K543Q|ENSP00000256999:N540H	K|N	-|-	1|1	0|0	FOLH1|FOLH1	49134850|49134850	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.887000|0.887000	0.51463|0.51463	2.436000|2.436000	0.44819|0.44819	0.157000|0.157000	0.19338|0.19338	0.338000|0.338000	0.21704|0.21704	AAA|AAT	FOLH1	-	NULL	ENSG00000086205		0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	508	0.00	0	T	NM_004476		49178274	49178274	-1	no_errors	ENST00000256999	ensembl	human	known	69_37n	missense	284	32.22	135	SNP	1.000	G
FOLH1B	219595	genome.wustl.edu	37	11	89424219	89424219	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:89424219G>A	ENST00000532352.1	+	0	1682							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.R290Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTGATTGTCGAGATTATGCT	0.373																																						dbGAP											1	Substitution - Missense(1)	lung(1)											72.0	66.0	68.0					11																	89424219		2200	4297	6497	-	-	-			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424219G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.373	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	397	0.00	0	G	NM_153696		89424219	89424219	+1	no_errors	ENST00000525540	ensembl	human	known	69_37n	rna	246	35.94	138	SNP	0.592	A
FOXA3	3171	genome.wustl.edu	37	19	46376112	46376112	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:46376112C>A	ENST00000302177.2	+	2	1046	c.849C>A	c.(847-849)ttC>ttA	p.F283L		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	283					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CACCCTATTTCACTGGCCTGG	0.632																																						dbGAP											0													44.0	45.0	44.0					19																	46376112		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.849C>A	19.37:g.46376112C>A	ENSP00000304004:p.Phe283Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F283L	ENST00000302177.2	37	c.849	CCDS12677.1	19	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466459	0.26335	.	.	ENSG00000170608	ENST00000302177	D	0.90620	-2.7	4.38	2.24	0.28232	.	0.614312	0.16506	N	0.211446	T	0.80204	0.4580	N	0.24115	0.695	0.27593	N	0.949208	B	0.14438	0.01	B	0.08055	0.003	T	0.62789	-0.6780	10	0.10902	T	0.67	.	8.1423	0.31091	0.0:0.7995:0.0:0.2005	.	283	P55318	FOXA3_HUMAN	L	283	ENSP00000304004:F283L	ENSP00000304004:F283L	F	+	3	2	FOXA3	51067952	0.070000	0.21116	0.568000	0.28447	0.933000	0.57130	2.147000	0.42226	0.578000	0.29487	0.579000	0.79373	TTC	FOXA3	-	NULL	ENSG00000170608		0.632	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA3	HGNC	protein_coding	OTTHUMT00000461682.1	165	0.60	1	C			46376112	46376112	+1	no_errors	ENST00000302177	ensembl	human	known	69_37n	missense	86	10.42	10	SNP	0.968	A
FOXE3	2301	genome.wustl.edu	37	1	47882374	47882374	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:47882374C>T	ENST00000335071.2	+	1	631	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	129					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACGACTGCTTCGTCAAGGTGC	0.642																																						dbGAP											0													53.0	52.0	53.0					1																	47882374		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.387C>T	1.37:g.47882374C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SVY9|Q9NQV9	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F129	ENST00000335071.2	37	c.387	CCDS550.1	1																																																																																			FOXE3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000186790		0.642	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXE3	HGNC	protein_coding	OTTHUMT00000021836.1	95	0.00	0	C	NM_012186		47882374	47882374	+1	no_errors	ENST00000335071	ensembl	human	known	69_37n	silent	34	15.00	6	SNP	1.000	T
FOXJ2	55810	genome.wustl.edu	37	12	8197460	8197460	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:8197460C>A	ENST00000162391.3	+	6	1868	c.723C>A	c.(721-723)ttC>ttA	p.F241L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.F241L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	241					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ACTTTAAATTCTCCTACTCAG	0.527																																						dbGAP											0													200.0	195.0	197.0					12																	8197460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.723C>A	12.37:g.8197460C>A	ENSP00000162391:p.Phe241Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F241L	ENST00000162391.3	37	c.723	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106698	0.37145	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94330	-3.18;-3.4	5.67	4.77	0.60923	.	0.562331	0.18649	N	0.135066	D	0.92977	0.7765	L	0.38175	1.15	0.47374	D	0.999403	P;D	0.56035	0.956;0.974	D;D	0.70487	0.931;0.969	D	0.88188	0.2875	10	0.05833	T	0.94	.	12.9027	0.58135	0.0:0.9189:0.0:0.0811	.	241;241	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	L	241	ENSP00000162391:F241L;ENSP00000403411:F241L	ENSP00000162391:F241L	F	+	3	2	FOXJ2	8088727	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.043000	0.41231	2.681000	0.91329	0.491000	0.48974	TTC	FOXJ2	-	NULL	ENSG00000065970		0.527	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	414	0.00	0	C	NM_018416		8197460	8197460	+1	no_errors	ENST00000162391	ensembl	human	known	69_37n	missense	381	10.14	43	SNP	1.000	A
FOXJ2	55810	genome.wustl.edu	37	12	8200498	8200498	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:8200498G>A	ENST00000162391.3	+	7	1983	c.838G>A	c.(838-840)Gac>Aac	p.D280N	FOXJ2_ENST00000428177.2_Missense_Mutation_p.D280N	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	280					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.D280N(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCTCCTGGGGGACATCCCACC	0.557																																						dbGAP											1	Substitution - Missense(1)	autonomic_ganglia(1)											50.0	57.0	55.0					12																	8200498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.838G>A	12.37:g.8200498G>A	ENSP00000162391:p.Asp280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D280N	ENST00000162391.3	37	c.838	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986871	0.74589	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94793	-3.33;-3.52	5.42	5.42	0.78866	.	3.093640	0.00861	N	0.001921	D	0.96639	0.8903	L	0.51422	1.61	0.41827	D	0.990055	D;D	0.67145	0.993;0.996	D;D	0.79784	0.971;0.993	D	0.87237	0.2264	10	0.15066	T	0.55	.	15.0867	0.72158	0.0:0.0:1.0:0.0	.	280;280	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	N	280	ENSP00000162391:D280N;ENSP00000403411:D280N	ENSP00000162391:D280N	D	+	1	0	FOXJ2	8091765	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.915000	0.69973	2.702000	0.92279	0.462000	0.41574	GAC	FOXJ2	-	NULL	ENSG00000065970		0.557	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	162	0.00	0	G	NM_018416		8200498	8200498	+1	no_errors	ENST00000162391	ensembl	human	known	69_37n	missense	94	14.55	16	SNP	1.000	A
FOXJ3	22887	genome.wustl.edu	37	1	42654508	42654508	+	Missense_Mutation	SNP	G	G	T	rs58227404		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:42654508G>T	ENST00000372572.1	-	13	1856	c.1545C>A	c.(1543-1545)ttC>ttA	p.F515L	FOXJ3_ENST00000372573.1_Missense_Mutation_p.F515L|FOXJ3_ENST00000372571.1_Missense_Mutation_p.F29L|FOXJ3_ENST00000361346.1_Missense_Mutation_p.F515L|FOXJ3_ENST00000361776.1_Missense_Mutation_p.F481L|FOXJ3_ENST00000545068.1_Missense_Mutation_p.F515L	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	515					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTGTGTAAAGAACTGATTAA	0.413																																						dbGAP											0													93.0	93.0	93.0					1																	42654508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1545C>A	1.37:g.42654508G>T	ENSP00000361653:p.Phe515Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.F515L	ENST00000372572.1	37	c.1545	CCDS30689.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296867	0.81025	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000372571;ENST00000361346;ENST00000361776;ENST00000545068	D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.55;-4.71	5.41	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	L	0.55743	1.74	0.54753	D	0.999982	P	0.52842	0.956	P	0.62184	0.899	D	0.96928	0.9679	10	0.40728	T	0.16	.	11.7869	0.52047	0.0852:0.0:0.9148:0.0	.	515	Q9UPW0	FOXJ3_HUMAN	L	515;515;29;515;481;515	ENSP00000361654:F515L;ENSP00000361653:F515L;ENSP00000354620:F515L;ENSP00000354449:F481L;ENSP00000439044:F515L	ENSP00000354620:F515L	F	-	3	2	FOXJ3	42427095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.382000	0.44345	1.301000	0.44836	0.655000	0.94253	TTC	FOXJ3	-	NULL	ENSG00000198815		0.413	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOXJ3	HGNC	protein_coding	OTTHUMT00000018310.1	145	0.00	0	G	NM_014947		42654508	42654508	-1	no_errors	ENST00000361346	ensembl	human	known	69_37n	missense	98	20.33	25	SNP	1.000	T
FOXM1	2305	genome.wustl.edu	37	12	2981307	2981307	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:2981307C>A	ENST00000359843.3	-	3	677	c.609G>T	c.(607-609)gaG>gaT	p.E203D	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.E203D|FOXM1_ENST00000342628.2_Missense_Mutation_p.E203D	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	203					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTCCTCCATCTCTTGCTTGA	0.493																																						dbGAP											0													282.0	256.0	264.0					12																	2981307		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.609G>T	12.37:g.2981307C>A	ENSP00000352901:p.Glu203Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E203D	ENST00000359843.3	37	c.609	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199222	0.58126	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93133	-3.08;-3.17;-3.09	5.7	1.0	0.19881	.	0.286229	0.38005	N	0.001856	D	0.91229	0.7236	L	0.32530	0.975	0.09310	N	0.999995	P;D;B;D;B	0.63046	0.949;0.992;0.148;0.992;0.047	P;P;B;P;B	0.60286	0.724;0.872;0.07;0.872;0.07	T	0.83103	-0.0127	10	0.36615	T	0.2	.	6.0141	0.19592	0.0:0.4079:0.1432:0.4489	.	202;203;203;203;203	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	D	203	ENSP00000342307:E203D;ENSP00000354492:E203D;ENSP00000352901:E203D	ENSP00000342307:E203D	E	-	3	2	FOXM1	2851568	0.091000	0.21658	0.537000	0.28052	0.829000	0.46940	0.366000	0.20365	0.265000	0.21872	0.655000	0.94253	GAG	FOXM1	-	NULL	ENSG00000111206		0.493	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	71	0.00	0	C	NM_021953		2981307	2981307	-1	no_errors	ENST00000342628	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	0.023	A
FOXN1	8456	genome.wustl.edu	37	17	26861408	26861408	+	Silent	SNP	C	C	T	rs184956155		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26861408C>T	ENST00000226247.2	+	6	1016	c.987C>T	c.(985-987)ttC>ttT	p.F329F	FOXN1_ENST00000579795.1_Silent_p.F329F	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	329					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAAGTGCTTCGAGAAGGTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17936	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													87.0	84.0	85.0					17																	26861408		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.987C>T	17.37:g.26861408C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q7|O15352	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F329	ENST00000226247.2	37	c.987	CCDS11232.1	17																																																																																			FOXN1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000109101		0.547	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	89	0.00	0	C			26861408	26861408	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	silent	36	10.00	4	SNP	0.952	T
FOXO1	2308	genome.wustl.edu	37	13	41134681	41134681	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41134681C>T	ENST00000379561.5	-	2	1331	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	316	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TGAGCTAGTTCGAGGGCGAAA	0.498																																						dbGAP											0													121.0	103.0	109.0					13																	41134681		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.947G>A	13.37:g.41134681C>T	ENSP00000368880:p.Arg316Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R316Q	ENST00000379561.5	37	c.947	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946482	0.92593	.	.	ENSG00000150907	ENST00000379561	D	0.95821	-3.82	5.6	5.6	0.85130	.	0.059266	0.64402	D	0.000003	D	0.98115	0.9378	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.98850	1.0758	10	0.87932	D	0	-9.6857	18.6061	0.91266	0.0:1.0:0.0:0.0	.	290;316	F8TAD1;Q12778	.;FOXO1_HUMAN	Q	316	ENSP00000368880:R316Q	ENSP00000368880:R316Q	R	-	2	0	FOXO1	40032681	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.487000	0.81328	2.653000	0.90120	0.563000	0.77884	CGA	FOXO1	-	NULL	ENSG00000150907		0.498	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	125	0.00	0	C	NM_002015		41134681	41134681	-1	no_errors	ENST00000379561	ensembl	human	known	69_37n	missense	80	34.43	42	SNP	1.000	T
FOXO1	2308	genome.wustl.edu	37	13	41134750	41134750	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41134750G>T	ENST00000379561.5	-	2	1262	c.878C>A	c.(877-879)tCc>tAc	p.S293Y	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	293	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		AGGCCATTTGGAAAACTGTGA	0.502																																						dbGAP											0													82.0	71.0	75.0					13																	41134750		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.878C>A	13.37:g.41134750G>T	ENSP00000368880:p.Ser293Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S293Y	ENST00000379561.5	37	c.878	CCDS9371.1	13	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679177	0.68042	.	.	ENSG00000150907	ENST00000379561	D	0.95001	-3.58	5.61	5.61	0.85477	.	0.304109	0.37178	N	0.002215	D	0.97120	0.9059	M	0.78637	2.42	0.50467	D	0.999875	P;D	0.76494	0.892;0.999	P;D	0.68192	0.518;0.956	D	0.97485	1.0050	10	0.87932	D	0	-9.5999	18.6299	0.91357	0.0:0.0:1.0:0.0	.	267;293	F8TAD1;Q12778	.;FOXO1_HUMAN	Y	293	ENSP00000368880:S293Y	ENSP00000368880:S293Y	S	-	2	0	FOXO1	40032750	1.000000	0.71417	0.782000	0.31804	0.701000	0.40568	7.310000	0.78947	2.653000	0.90120	0.467000	0.42956	TCC	FOXO1	-	NULL	ENSG00000150907		0.502	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO1	HGNC	protein_coding	OTTHUMT00000044634.3	108	0.00	0	G	NM_002015		41134750	41134750	-1	no_errors	ENST00000379561	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	0.992	T
FOXO3	2309	genome.wustl.edu	37	6	108985201	108985201	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:108985201G>A	ENST00000343882.6	+	3	1469	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	FOXO3_ENST00000406360.1_Missense_Mutation_p.D389N|FOXO3_ENST00000540898.1_Missense_Mutation_p.D169N	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	389					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCTCATGGACGACCTGCTGGA	0.582																																						dbGAP											0													38.0	39.0	39.0					6																	108985201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1165G>A	6.37:g.108985201G>A	ENSP00000339527:p.Asp389Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D389N	ENST00000343882.6	37	c.1165	CCDS5068.1	6	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687310	0.29962	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.89810	-2.57;-2.57	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84786	0.5549	L	0.35593	1.075	0.80722	D	1	D	0.63046	0.992	P	0.50570	0.644	T	0.82184	-0.0583	10	0.23891	T	0.37	-23.9167	20.0745	0.97737	0.0:0.0:1.0:0.0	.	389	O43524	FOXO3_HUMAN	N	389;389;169;169	ENSP00000339527:D389N;ENSP00000385824:D389N	ENSP00000339527:D389N	D	+	1	0	FOXO3	109091894	1.000000	0.71417	0.977000	0.42913	0.480000	0.33159	9.476000	0.97823	2.748000	0.94277	0.462000	0.41574	GAC	FOXO3	-	NULL	ENSG00000118689		0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	HGNC	protein_coding	OTTHUMT00000041722.2	44	0.00	0	G			108985201	108985201	+1	no_errors	ENST00000343882	ensembl	human	known	69_37n	missense	24	40.00	16	SNP	1.000	A
FOXO4	4303	genome.wustl.edu	37	X	70316735	70316735	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70316735G>T	ENST00000374259.3	+	1	689	c.357G>T	c.(355-357)gaG>gaT	p.E119D	FOXO4_ENST00000341558.3_Missense_Mutation_p.E64D|FOXO4_ENST00000466874.1_3'UTR	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	119					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GCGCCCCGGAGAAGCGACTGA	0.562																																						dbGAP											0													55.0	54.0	55.0					X																	70316735		2174	4284	6458	-	-	-	SO:0001583	missense	0				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.357G>T	X.37:g.70316735G>T	ENSP00000363377:p.Glu119Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E119D	ENST00000374259.3	37	c.357	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948369	0.34377	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.95690	-3.78;-3.78	5.02	3.1	0.35709	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.055828	0.64402	N	0.000001	D	0.87091	0.6091	N	0.13003	0.285	0.50171	D	0.999858	B;B;B	0.32526	0.001;0.005;0.374	B;B;B	0.34180	0.012;0.011;0.177	T	0.80567	-0.1325	10	0.07644	T	0.81	-30.0112	7.192	0.25831	0.0944:0.3526:0.553:0.0	.	119;64;119	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	D	119;64	ENSP00000363377:E119D;ENSP00000342209:E64D	ENSP00000342209:E64D	E	+	3	2	FOXO4	70233460	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.623000	0.37008	0.887000	0.36136	-0.358000	0.07595	GAG	FOXO4	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000184481		0.562	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	406	0.00	0	G	NM_005938		70316735	70316735	+1	no_errors	ENST00000374259	ensembl	human	known	69_37n	missense	243	29.68	103	SNP	1.000	T
FOXP2	93986	genome.wustl.edu	37	7	114304455	114304455	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:114304455G>T	ENST00000393494.2	+	16	2246	c.1967G>T	c.(1966-1968)gGa>gTa	p.G656V	FOXP2_ENST00000393498.2_Missense_Mutation_p.G635V|FOXP2_ENST00000350908.4_Missense_Mutation_p.G656V|FOXP2_ENST00000408937.3_Missense_Mutation_p.G681V|FOXP2_ENST00000393489.3_Missense_Mutation_p.G564V|FOXP2_ENST00000403559.4_Missense_Mutation_p.G673V|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Missense_Mutation_p.G471V			O15409	FOXP2_HUMAN	forkhead box P2	656					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GACAGCAATGGAAACAGTAGT	0.438																																						dbGAP											0													81.0	76.0	78.0					7																	114304455		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1967G>T	7.37:g.114304455G>T	ENSP00000377132:p.Gly656Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G681V	ENST00000393494.2	37	c.2042	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797259	0.50208	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92805	-2.94;-2.89;-2.93;-2.94;-3.01;-3.11	5.57	5.57	0.84162	.	0.097327	0.64402	D	0.000001	D	0.95265	0.8464	L	0.55990	1.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.994;0.96;0.994;0.998	D	0.95370	0.8463	10	0.72032	D	0.01	.	19.5416	0.95277	0.0:0.0:1.0:0.0	.	655;673;471;656;681	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	V	656;681;673;656;633;564;471	ENSP00000377132:G656V;ENSP00000386200:G681V;ENSP00000385069:G673V;ENSP00000265436:G656V;ENSP00000377129:G564V;ENSP00000377130:G471V	ENSP00000265436:G656V	G	+	2	0	FOXP2	114091691	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	9.397000	0.97276	2.614000	0.88457	0.655000	0.94253	GGA	FOXP2	-	NULL	ENSG00000128573		0.438	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	132	0.75	1	G	NM_014491		114304455	114304455	+1	no_errors	ENST00000408937	ensembl	human	known	69_37n	missense	89	12.75	13	SNP	1.000	T
FOXRED1	55572	genome.wustl.edu	37	11	126141728	126141728	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:126141728G>A	ENST00000263578.5	+	2	380				SRPR_ENST00000530680.1_5'Flank|SRPR_ENST00000532259.1_5'Flank|FOXRED1_ENST00000442061.2_Intron|SRPR_ENST00000332118.6_5'Flank|FOXRED1_ENST00000532125.1_Intron|FOXRED1_ENST00000534011.1_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TTCCTCAGTCGAACCAGGAAG	0.458																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.306+176G>A	11.37:g.126141728G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	RNA	SNP	-	NULL	ENST00000263578.5	37	NULL	CCDS8471.1	11																																																																																			FOXRED1	-	-	ENSG00000110074		0.458	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1	16	0.00	0	G	NM_017547		126141728	126141728	+1	no_errors	ENST00000526366	ensembl	human	known	69_37n	rna	17	29.17	7	SNP	0.001	A
FPGT	8790	genome.wustl.edu	37	1	74670213	74670213	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:74670213G>A	ENST00000609362.1	+	4	519	c.482G>A	c.(481-483)gGa>gAa	p.G161E	FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000467578.2_3'UTR|FPGT_ENST00000370898.3_Missense_Mutation_p.G174E|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	161					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ATGAATCCTGGAATTCTGGTT	0.353																																						dbGAP											0													107.0	109.0	108.0					1																	74670213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.482G>A	1.37:g.74670213G>A	ENSP00000476680:p.Gly161Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.G161E	ENST00000609362.1	37	c.482	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489236	0.64074	.	.	ENSG00000254685	ENST00000370898;ENST00000472069	T;T	0.71579	-0.58;-0.58	5.57	4.65	0.58169	L-fucokinase (1);	.	.	.	.	T	0.77011	0.4068	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	D	0.71414	0.973	T	0.78257	-0.2274	9	0.59425	D	0.04	.	13.852	0.63504	0.0731:0.0:0.9269:0.0	.	161	O14772	FPGT_HUMAN	E	161;159	ENSP00000359935:G161E;ENSP00000433499:G159E	ENSP00000359935:G161E	G	+	2	0	TNNI3K	74442801	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.651000	0.83577	2.618000	0.88619	0.591000	0.81541	GGA	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.353	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		131	0.00	0	G			74670213	74670213	+1	no_errors	ENST00000370898	ensembl	human	known	69_37n	missense	58	29.27	24	SNP	1.000	A
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74834720	74834720	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:74834720C>A	ENST00000370899.3	+	16	1676	c.1639C>A	c.(1639-1641)Ctc>Atc	p.L547I	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.L560I|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Missense_Mutation_p.L446I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.L547I|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.L547I	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGCAGATATTCTCCTCCTAAG	0.328																																						dbGAP											0													44.0	46.0	45.0					1																	74834720		2202	4298	6500	-	-	-	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1639C>A	1.37:g.74834720C>A	ENSP00000359936:p.Leu547Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L547I	ENST00000370899.3	37	c.1639		1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385099	0.82792	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.74947	-0.88;-0.62;-0.89;-0.89;-0.87	4.98	4.98	0.66077	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.83275	0.977;0.996;0.996;0.99	T	0.74399	-0.3678	10	0.34782	T	0.22	.	18.6338	0.91370	0.0:1.0:0.0:0.0	.	446;547;547;547	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	I	547;547;547;547;446	ENSP00000359936:L547I;ENSP00000359932:L547I;ENSP00000450895:L547I;ENSP00000359928:L547I;ENSP00000322251:L446I	ENSP00000322251:L446I	L	+	1	0	RP11-653A5.2;AC093158.1	74607308	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.270000	0.78493	2.471000	0.83476	0.650000	0.86243	CTC	FPGT-TNNI3K	-	superfamily_Kinase-like_dom	ENSG00000116783		0.328	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	111	0.00	0	C			74834720	74834720	+1	no_errors	ENST00000370891	ensembl	human	known	69_37n	missense	38	19.15	9	SNP	1.000	A
FRAS1	80144	genome.wustl.edu	37	4	79199824	79199824	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:79199824C>T	ENST00000325942.6	+	10	1437	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	FRAS1_ENST00000264899.6_Missense_Mutation_p.H333Y|FRAS1_ENST00000264895.6_Missense_Mutation_p.H333Y	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	333	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGAATTAATTCACTTAGATGG	0.388																																						dbGAP											0													175.0	167.0	170.0					4																	79199824		1874	4107	5981	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.997C>T	4.37:g.79199824C>T	ENSP00000326330:p.His333Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.H333Y	ENST00000325942.6	37	c.997	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.97|19.97	3.925613|3.925613	0.73213|0.73213	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000508900	T;T;T|.	0.71817|.	-0.6;-0.6;-0.6|.	5.97|5.97	5.97|5.97	0.96955|0.96955	von Willebrand factor, type C (4);|.	0.059585|.	0.64402|.	D|.	0.000002|.	T|T	0.69142|0.69142	0.3078|0.3078	L|L	0.41961|0.41961	1.31|1.31	0.58432|0.58432	D|D	0.999996|0.999996	P;P;D;P|.	0.89917|.	0.711;0.711;1.0;0.568|.	B;P;D;P|.	0.91635|.	0.38;0.534;0.999;0.678|.	T|T	0.62101|0.62101	-0.6925|-0.6925	10|5	0.35671|.	T|.	0.21|.	.|.	20.4388|20.4388	0.99107|0.99107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	333;333;333;333|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.	.;FRAS1_HUMAN;.;.|.	Y|L	333;333;333;73|175	ENSP00000326330:H333Y;ENSP00000264895:H333Y;ENSP00000264899:H333Y|.	ENSP00000264895:H333Y|.	H|S	+|+	1|2	0|0	FRAS1|FRAS1	79418848|79418848	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.635000|0.635000	0.38103|0.38103	5.553000|5.553000	0.67287|0.67287	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CAC|TCA	FRAS1	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000138759		0.388	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	430	0.23	1	C			79199824	79199824	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	336	12.04	46	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79362418	79362418	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:79362418C>T	ENST00000325942.6	+	41	6072	c.5632C>T	c.(5632-5634)Ccc>Tcc	p.P1878S	FRAS1_ENST00000264895.6_Missense_Mutation_p.P1878S	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1878					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGTGCTCTGCCCAAATATGG	0.468																																						dbGAP											0													81.0	72.0	75.0					4																	79362418		1901	4126	6027	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5632C>T	4.37:g.79362418C>T	ENSP00000326330:p.Pro1878Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.P1878S	ENST00000325942.6	37	c.5632	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515664|4.515664	0.85389|0.85389	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000510944;ENST00000512123|ENST00000325942;ENST00000264895	.|T;D	.|0.82081	.|0.8;-1.57	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91981|0.91981	0.7460|0.7460	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.91544|0.91544	0.5252|0.5252	5|10	.|0.56958	.|D	.|0.05	.|.	20.2704|20.2704	0.98474|0.98474	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1878;1878	.|E9PHH6;A2RRR8	.|.;.	V|S	327;106|1878	.|ENSP00000326330:P1878S;ENSP00000264895:P1878S	.|ENSP00000264895:P1878S	A|P	+|+	2|1	0|0	FRAS1|FRAS1	79581442|79581442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	6.080000|6.080000	0.71299|0.71299	2.793000|2.793000	0.96121|0.96121	0.591000|0.591000	0.81541|0.81541	GCC|CCC	FRAS1	-	NULL	ENSG00000138759		0.468	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	76	0.00	0	C			79362418	79362418	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	0.999	T
FRAS1	80144	genome.wustl.edu	37	4	79458239	79458239	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:79458239C>T	ENST00000264895.6	+	72	11623	c.11183C>T	c.(11182-11184)aCg>aTg	p.T3728M		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3724					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCTTTGTACGGGCAAGGAT	0.428																																						dbGAP											0													135.0	131.0	132.0					4																	79458239		1834	4095	5929	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11183C>T	4.37:g.79458239C>T	ENSP00000264895:p.Thr3728Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.T3728M	ENST00000264895.6	37	c.11183	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975762	0.92982	.	.	ENSG00000138759	ENST00000264895	T	0.69685	-0.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84836	0.0805	10	0.87932	D	0	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	3728	E9PHH6	.	M	3728	ENSP00000264895:T3728M	ENSP00000264895:T3728M	T	+	2	0	FRAS1	79677263	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.680000	0.84062	2.810000	0.96702	0.585000	0.79938	ACG	FRAS1	-	NULL	ENSG00000138759		0.428	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		336	0.29	1	C			79458239	79458239	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	230	18.44	52	SNP	1.000	T
FREM1	158326	genome.wustl.edu	37	9	14746971	14746971	+	Silent	SNP	G	G	A	rs373394661		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:14746971G>A	ENST00000380880.3	-	34	6871	c.6088C>T	c.(6088-6090)Ctg>Ttg	p.L2030L	FREM1_ENST00000380894.1_Silent_p.L566L|FREM1_ENST00000380881.4_Silent_p.L2031L|FREM1_ENST00000422223.2_Silent_p.L2030L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2030					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CACTGATACAGCTTCTGGATG	0.488																																						dbGAP											0													51.0	48.0	49.0					9																	14746971		1918	4127	6045	-	-	-	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6088C>T	9.37:g.14746971G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L2031	ENST00000380880.3	37	c.6091	CCDS47952.1	9																																																																																			FREM1	-	NULL	ENSG00000164946		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	96	0.00	0	G	NM_144966		14746971	14746971	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	silent	64	26.44	23	SNP	0.557	A
FREM1	158326	genome.wustl.edu	37	9	14747683	14747683	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:14747683T>C	ENST00000380880.3	-	32	6623	c.5840A>G	c.(5839-5841)tAt>tGt	p.Y1947C	FREM1_ENST00000380894.1_Missense_Mutation_p.Y483C|FREM1_ENST00000380881.4_Missense_Mutation_p.Y1948C|FREM1_ENST00000422223.2_Missense_Mutation_p.Y1947C			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1947					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACTTACATTATAGATGATGTC	0.269																																						dbGAP											0													35.0	33.0	33.0					9																	14747683		1798	4010	5808	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5840A>G	9.37:g.14747683T>C	ENSP00000370262:p.Tyr1947Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.Y1948C	ENST00000380880.3	37	c.5843	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277997	0.59758	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.16743	2.57;2.58;2.32;2.58	5.24	4.06	0.47325	.	0.131226	0.53938	D	0.000060	T	0.30448	0.0765	L	0.59436	1.845	0.40671	D	0.982212	D;D	0.71674	0.995;0.998	P;P	0.58077	0.72;0.832	T	0.07328	-1.0778	10	0.87932	D	0	-14.0883	11.1119	0.48237	0.2042:0.0:0.0:0.7958	.	1947;483	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	C	1948;1947;483;1947	ENSP00000370263:Y1948C;ENSP00000412940:Y1947C;ENSP00000370278:Y483C;ENSP00000370262:Y1947C	ENSP00000370262:Y1947C	Y	-	2	0	FREM1	14737683	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	1.870000	0.39529	1.980000	0.57719	0.533000	0.62120	TAT	FREM1	-	NULL	ENSG00000164946		0.269	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	102	0.00	0	T	NM_144966		14747683	14747683	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	109	14.84	19	SNP	0.997	C
FREM2	341640	genome.wustl.edu	37	13	39454503	39454503	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:39454503G>T	ENST00000280481.7	+	24	9305	c.9089G>T	c.(9088-9090)aGa>aTa	p.R3030I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3030					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTGGCAAAAGAAGTGTGGAG	0.483																																						dbGAP											0													107.0	100.0	103.0					13																	39454503		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9089G>T	13.37:g.39454503G>T	ENSP00000280481:p.Arg3030Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R3030I	ENST00000280481.7	37	c.9089	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595417	0.86953	.	.	ENSG00000150893	ENST00000280481	T	0.28255	1.62	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.63977	0.2557	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.68296	-0.5446	10	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	3030	Q5SZK8	FREM2_HUMAN	I	3030	ENSP00000280481:R3030I	ENSP00000280481:R3030I	R	+	2	0	FREM2	38352503	1.000000	0.71417	0.969000	0.41365	0.372000	0.29890	9.580000	0.98207	2.797000	0.96272	0.563000	0.77884	AGA	FREM2	-	NULL	ENSG00000150893		0.483	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	143	0.00	0	G	NM_207361		39454503	39454503	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	T
FREM3	166752	genome.wustl.edu	37	4	144619776	144619776	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:144619776G>T	ENST00000329798.5	-	1	2052	c.2053C>A	c.(2053-2055)Ctc>Atc	p.L685I	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	685					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TGTTTGGAGAGATTGGGTGGG	0.483																																						dbGAP											0													48.0	41.0	43.0					4																	144619776		692	1591	2283	-	-	-	SO:0001583	missense	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2053C>A	4.37:g.144619776G>T	ENSP00000332886:p.Leu685Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L685I	ENST00000329798.5	37	c.2053	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	G	7.334	0.619512	0.14129	.	.	ENSG00000183090	ENST00000329798	T	0.42131	0.98	4.01	3.17	0.36434	.	0.080914	0.49305	D	0.000156	T	0.44286	0.1286	L	0.52266	1.64	0.33403	D	0.577576	.	.	.	.	.	.	T	0.56080	-0.8038	8	0.35671	T	0.21	-7.8897	10.4417	0.44469	0.0989:0.0:0.9011:0.0	.	.	.	.	I	685	ENSP00000332886:L685I	ENSP00000332886:L685I	L	-	1	0	FREM3	144839226	1.000000	0.71417	0.962000	0.40283	0.709000	0.40893	3.285000	0.51716	0.899000	0.36444	0.655000	0.94253	CTC	FREM3	-	NULL	ENSG00000183090		0.483	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	75	0.00	0	G	XM_094074		144619776	144619776	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	missense	42	16.00	8	SNP	1.000	T
FRMD6	122786	genome.wustl.edu	37	14	52187057	52187057	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52187057G>T	ENST00000344768.5	+	11	1505	c.1309G>T	c.(1309-1311)Ggg>Tgg	p.G437W	FRMD6_ENST00000554167.1_Missense_Mutation_p.G360W|FRMD6_ENST00000553556.1_Missense_Mutation_p.G79W|FRMD6_ENST00000395718.2_Missense_Mutation_p.G429W|FRMD6_ENST00000356218.4_Missense_Mutation_p.G429W			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	437					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCACACCTCAGGGGTGGAGAG	0.572																																						dbGAP											0													35.0	38.0	37.0					14																	52187057		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1309G>T	14.37:g.52187057G>T	ENSP00000343899:p.Gly437Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.G437W	ENST00000344768.5	37	c.1309	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557727	0.86231	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197;ENST00000555703;ENST00000553556	D;D;D;D	0.91740	-2.9;-2.9;-2.64;-2.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.94024	0.7295	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	360;437;429	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	W	429;429;437;360;167;79;79	ENSP00000348550:G429W;ENSP00000379068:G429W;ENSP00000343899:G437W;ENSP00000451977:G360W	ENSP00000343899:G437W	G	+	1	0	FRMD6	51256807	1.000000	0.71417	0.874000	0.34290	0.608000	0.37181	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	GGG	FRMD6	-	NULL	ENSG00000139926		0.572	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	35	0.00	0	G	NM_152330		52187057	52187057	+1	no_errors	ENST00000344768	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
FRMPD1	22844	genome.wustl.edu	37	9	37729762	37729762	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:37729762G>A	ENST00000539465.1	+	8	1243	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	FRMPD1_ENST00000541302.1_Missense_Mutation_p.R86Q|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R39Q|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R217Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	217	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGTCCATCCGAAGTATCGAG	0.557																																						dbGAP											0													128.0	106.0	114.0					9																	37729762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.650G>A	9.37:g.37729762G>A	ENSP00000444411:p.Arg217Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.R217Q	ENST00000539465.1	37	c.650	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285145	0.80803	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.64	3.8	0.43715	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.123749	0.56097	D	0.000039	T	0.73249	0.3563	L	0.41710	1.295	0.35373	D	0.78923	P;D	0.62365	0.887;0.991	P;P	0.52159	0.575;0.691	T	0.76567	-0.2912	10	0.36615	T	0.2	-6.5917	6.842	0.23967	0.2629:0.0:0.7371:0.0	.	86;217	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	Q	217;217;39;86	ENSP00000366995:R217Q;ENSP00000444411:R217Q;ENSP00000437762:R39Q;ENSP00000444804:R86Q	ENSP00000366995:R217Q	R	+	2	0	FRMPD1	37719762	0.996000	0.38824	0.947000	0.38551	0.996000	0.88848	2.699000	0.47077	1.396000	0.46663	0.655000	0.94253	CGA	FRMPD1	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000070601		0.557	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	194	0.00	0	G	NM_014907		37729762	37729762	+1	no_errors	ENST00000377765	ensembl	human	known	69_37n	missense	154	20.62	40	SNP	0.997	A
FRMPD2	143162	genome.wustl.edu	37	10	49386161	49386161	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:49386161C>T	ENST00000374201.3	-	22	3126	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E917K|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_5'Flank|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E910K	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	942					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCACTGATTTCTGGAGGTGAT	0.413																																						dbGAP											0													10.0	11.0	10.0					10																	49386161		2109	4173	6282	-	-	-	SO:0001583	missense	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2824G>A	10.37:g.49386161C>T	ENSP00000363317:p.Glu942Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.E942K	ENST00000374201.3	37	c.2824	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	2.411	-0.335290	0.05278	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.38560	1.13;1.13;1.13	5.15	2.84	0.33178	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.31136	0.0787	L	0.27053	0.805	0.09310	N	1	B;B;P	0.40180	0.157;0.085;0.705	B;B;B	0.41510	0.131;0.02;0.359	T	0.08617	-1.0713	9	0.33141	T	0.24	.	8.8953	0.35460	0.0:0.7502:0.1548:0.095	.	917;942;910	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	K	942;917;910	ENSP00000363317:E942K;ENSP00000307079:E917K;ENSP00000384339:E910K	ENSP00000307079:E917K	E	-	1	0	FRMPD2	49056167	0.148000	0.22702	0.086000	0.20670	0.004000	0.04260	0.412000	0.21131	1.114000	0.41781	0.650000	0.86243	GAA	FRMPD2	-	superfamily_PDZ	ENSG00000170324		0.413	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	59	0.00	0	C	NM_152428		49386161	49386161	-1	no_errors	ENST00000374201	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	0.108	T
FRMPD4	9758	genome.wustl.edu	37	X	12734821	12734821	+	Missense_Mutation	SNP	C	C	T	rs370344979		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:12734821C>T	ENST00000380682.1	+	15	2749	c.2243C>T	c.(2242-2244)gCg>gTg	p.A748V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	748					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTGATGACGCGGAGGACGAG	0.562																																						dbGAP											0													115.0	108.0	110.0					X																	12734821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2243C>T	X.37:g.12734821C>T	ENSP00000370057:p.Ala748Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A748V	ENST00000380682.1	37	c.2243	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	C	7.699	0.692717	0.15039	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.38887	1.11	5.56	2.85	0.33270	.	0.169624	0.51477	N	0.000090	T	0.26048	0.0635	L	0.28192	0.835	0.32554	N	0.53194	B;B	0.23990	0.095;0.095	B;B	0.14023	0.01;0.01	T	0.21211	-1.0252	10	0.33940	T	0.23	.	8.2837	0.31915	0.0:0.6889:0.0:0.3111	.	740;748	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	748;739;737	ENSP00000370057:A748V	ENSP00000304583:A737V	A	+	2	0	FRMPD4	12644742	0.975000	0.34042	0.022000	0.16811	0.057000	0.15508	2.411000	0.44600	0.540000	0.28808	-0.881000	0.02953	GCG	FRMPD4	-	NULL	ENSG00000169933		0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	234	0.00	0	C	XM_045712		12734821	12734821	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	145	28.92	59	SNP	0.784	T
FRS3	10817	genome.wustl.edu	37	6	41738487	41738487	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:41738487C>T	ENST00000373018.3	-	7	1600	c.1349G>A	c.(1348-1350)cGa>cAa	p.R450Q	FRS3_ENST00000259748.2_Missense_Mutation_p.R450Q	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	450					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCTGAGCTTCGGGCAGGGTG	0.637																																						dbGAP											0													64.0	70.0	68.0					6																	41738487		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1349G>A	6.37:g.41738487C>T	ENSP00000362109:p.Arg450Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R450Q	ENST00000373018.3	37	c.1349	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323022	0.81580	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.30981	1.51;1.51	5.37	5.37	0.77165	.	0.206225	0.52532	D	0.000078	T	0.29491	0.0735	L	0.46741	1.465	0.58432	D	0.999997	D	0.76494	0.999	P	0.54372	0.75	T	0.01920	-1.1247	10	0.46703	T	0.11	-32.1138	13.4399	0.61106	0.0:0.9225:0.0:0.0775	.	450	O43559	FRS3_HUMAN	Q	450	ENSP00000362109:R450Q;ENSP00000259748:R450Q	ENSP00000259748:R450Q	R	-	2	0	FRS3	41846465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.753000	0.55180	2.531000	0.85337	0.655000	0.94253	CGA	FRS3	-	NULL	ENSG00000137218		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	55	0.00	0	C	NM_006653		41738487	41738487	-1	no_errors	ENST00000259748	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	1.000	T
FRY	10129	genome.wustl.edu	37	13	32723920	32723920	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:32723920C>T	ENST00000380250.3	+	14	1924	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	476						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAATCATTTTCGATTTTCTTT	0.343																																						dbGAP											0													91.0	84.0	86.0					13																	32723920		1832	4085	5917	-	-	-	SO:0001819	synonymous_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1428C>T	13.37:g.32723920C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.F476	ENST00000380250.3	37	c.1428	CCDS41875.1	13																																																																																			FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.343	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	358	0.28	1	C	NM_023037		32723920	32723920	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	silent	204	15.35	37	SNP	1.000	T
FRYL	285527	genome.wustl.edu	37	4	48517136	48517136	+	Missense_Mutation	SNP	C	C	T	rs545267489		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:48517136C>T	ENST00000503238.1	-	53	7845	c.7846G>A	c.(7846-7848)Gag>Aag	p.E2616K	FRYL_ENST00000507873.2_Missense_Mutation_p.E12K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2616K|FRYL_ENST00000264319.7_Missense_Mutation_p.E12K|FRYL_ENST00000537810.1_Missense_Mutation_p.E2616K			O94915	FRYL_HUMAN	FRY-like	2616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAGACTGACTCGGGGTAACTT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18883	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													155.0	141.0	146.0					4																	48517136		1864	4106	5970	-	-	-	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7846G>A	4.37:g.48517136C>T	ENSP00000426064:p.Glu2616Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2616K	ENST00000503238.1	37	c.7846	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756226	0.49362	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.24350	1.9;1.9;1.86	5.96	5.96	0.96718	.	1.345490	0.05405	U	0.541357	T	0.31358	0.0794	L	0.50333	1.59	0.43527	D	0.995805	B;B;B	0.26258	0.089;0.145;0.122	B;B;B	0.23275	0.018;0.04;0.045	T	0.48364	-0.9042	10	0.08837	T	0.75	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	2616;2616;12	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	K	2616;2616;2616;12;12	ENSP00000426064:E2616K;ENSP00000351113:E2616K;ENSP00000441114:E2616K	ENSP00000264319:E12K	E	-	1	0	FRYL	48211893	1.000000	0.71417	0.738000	0.30950	0.265000	0.26407	6.400000	0.73252	2.830000	0.97506	0.585000	0.79938	GAG	FRYL	-	NULL	ENSG00000075539		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	365	0.00	0	C			48517136	48517136	-1	no_errors	ENST00000358350	ensembl	human	known	69_37n	missense	229	12.26	32	SNP	0.998	T
FSHR	2492	genome.wustl.edu	37	2	49295388	49295388	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:49295388G>T	ENST00000406846.2	-	2	313	c.194C>A	c.(193-195)gCa>gAa	p.A65E	FSHR_ENST00000346173.3_Missense_Mutation_p.A65E|FSHR_ENST00000304421.4_Missense_Mutation_p.A65E	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	65					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCCTGAAAATGCACCTTTTTG	0.433									Gonadal Dysgenesis, 46 XX																													dbGAP											0													135.0	128.0	130.0					2																	49295388		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.194C>A	2.37:g.49295388G>T	ENSP00000384708:p.Ala65Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.A65E	ENST00000406846.2	37	c.194	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152893	0.78001	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.86	4.86	0.63082	.	0.218649	0.37178	N	0.002205	D	0.91536	0.7327	M	0.88105	2.93	0.80722	D	1	P;D;P	0.69078	0.93;0.997;0.939	B;P;P	0.57911	0.434;0.829;0.726	D	0.92521	0.6025	9	.	.	.	.	13.3532	0.60613	0.0:0.0:1.0:0.0	.	65;65;65	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	E	65	ENSP00000384708:A65E;ENSP00000333908:A65E;ENSP00000306780:A65E;ENSP00000415504:A65E	.	A	-	2	0	FSHR	49148892	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.198000	0.51035	2.521000	0.84997	0.462000	0.41574	GCA	FSHR	-	prints_FSH_rcpt	ENSG00000170820		0.433	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	652	0.00	0	G			49295388	49295388	-1	no_errors	ENST00000406846	ensembl	human	known	69_37n	missense	339	14.18	56	SNP	1.000	T
FSIP1	161835	genome.wustl.edu	37	15	40057930	40057930	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40057930C>A	ENST00000350221.3	-	4	537	c.328G>T	c.(328-330)Gaa>Taa	p.E110*		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	110										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GAATCTAATTCTTTTAATTTG	0.269																																						dbGAP											0													62.0	65.0	64.0					15																	40057930		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.328G>T	15.37:g.40057930C>A	ENSP00000280236:p.Glu110*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X2C8|Q86Y89	Nonsense_Mutation	SNP	NULL	p.E110*	ENST00000350221.3	37	c.328	CCDS10050.1	15	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042823	0.93685	.	.	ENSG00000150667	ENST00000350221	.	.	.	5.38	5.38	0.77491	.	0.456154	0.18735	N	0.132617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3804	16.0676	0.80897	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	.	E	-	1	0	FSIP1	37845222	0.999000	0.42202	0.515000	0.27774	0.168000	0.22595	2.866000	0.48420	2.524000	0.85096	0.561000	0.74099	GAA	FSIP1	-	NULL	ENSG00000150667		0.269	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	HGNC	protein_coding	OTTHUMT00000252118.2	360	0.00	0	C	NM_152597		40057930	40057930	-1	no_errors	ENST00000350221	ensembl	human	known	69_37n	nonsense	213	19.01	50	SNP	0.950	A
FSIP1	161835	genome.wustl.edu	37	15	40068637	40068637	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40068637G>T	ENST00000350221.3	-	2	298	c.89C>A	c.(88-90)tCt>tAt	p.S30Y	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	30										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CACCTCCAAAGAAGCATTTGA	0.388																																						dbGAP											0													140.0	136.0	137.0					15																	40068637		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.89C>A	15.37:g.40068637G>T	ENSP00000280236:p.Ser30Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X2C8|Q86Y89	Missense_Mutation	SNP	NULL	p.S30Y	ENST00000350221.3	37	c.89	CCDS10050.1	15	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093271	0.76756	.	.	ENSG00000150667	ENST00000350221	T	0.35421	1.31	4.99	4.99	0.66335	.	0.272225	0.30252	N	0.010051	T	0.59088	0.2168	M	0.71581	2.175	0.47276	D	0.999378	D	0.89917	1.0	D	0.91635	0.999	T	0.57370	-0.7823	9	.	.	.	-10.2684	15.6532	0.77112	0.0:0.0:1.0:0.0	.	30	Q8NA03	FSIP1_HUMAN	Y	30	ENSP00000280236:S30Y	.	S	-	2	0	FSIP1	37855929	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.431000	0.52814	2.754000	0.94517	0.603000	0.83216	TCT	FSIP1	-	NULL	ENSG00000150667		0.388	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	HGNC	protein_coding	OTTHUMT00000252118.2	441	0.00	0	G	NM_152597		40068637	40068637	-1	no_errors	ENST00000350221	ensembl	human	known	69_37n	missense	347	10.10	39	SNP	1.000	T
FSTL1	11167	genome.wustl.edu	37	3	120128476	120128476	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:120128476C>T	ENST00000295633.3	-	6	721	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	FSTL1_ENST00000424703.2_Missense_Mutation_p.R87Q	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	122					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGCGACGTCGGAGCTCATC	0.507																																						dbGAP											0													91.0	85.0	87.0					3																	120128476		2203	4300	6503	-	-	-	SO:0001583	missense	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.365G>A	3.37:g.120128476C>T	ENSP00000295633:p.Arg122Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pfscan_EF_HAND_2	p.R122Q	ENST00000295633.3	37	c.365	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.706649	0.96821	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703;ENST00000469005	T;T;T	0.24908	2.42;1.83;2.42	5.24	5.24	0.73138	.	0.050882	0.85682	D	0.000000	T	0.50497	0.1619	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.69078	0.997;0.994	P;P	0.58873	0.847;0.797	T	0.54970	-0.8213	10	0.54805	T	0.06	-15.3315	17.8307	0.88682	0.0:1.0:0.0:0.0	.	87;122	B4DTT5;Q12841	.;FSTL1_HUMAN	Q	122;65;87;122	ENSP00000295633:R122Q;ENSP00000394355:R87Q;ENSP00000418505:R122Q	ENSP00000295633:R122Q	R	-	2	0	FSTL1	121611166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.459000	0.83118	0.655000	0.94253	CGA	FSTL1	-	NULL	ENSG00000163430		0.507	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	159	0.00	0	C	NM_007085		120128476	120128476	-1	no_errors	ENST00000295633	ensembl	human	known	69_37n	missense	72	40.00	48	SNP	1.000	T
FSTL4	23105	genome.wustl.edu	37	5	132939586	132939586	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:132939586C>A	ENST00000265342.7	-	2	338	c.89G>T	c.(88-90)aGa>aTa	p.R30I		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	30						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCCGGGCCTCTGCTGGTTCC	0.537																																						dbGAP											0													74.0	81.0	78.0					5																	132939586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.89G>T	5.37:g.132939586C>A	ENSP00000265342:p.Arg30Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.R30I	ENST00000265342.7	37	c.89	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686078	0.29962	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60548	0.18	5.65	3.88	0.44766	.	0.499385	0.22144	N	0.064009	T	0.44850	0.1313	L	0.29908	0.895	0.45899	D	0.998742	P	0.44578	0.838	B	0.41988	0.372	T	0.35574	-0.9783	10	0.49607	T	0.09	-3.7373	8.9593	0.35838	0.0:0.8289:0.0:0.1711	.	30	Q6MZW2	FSTL4_HUMAN	I	30	ENSP00000265342:R30I	ENSP00000265342:R30I	R	-	2	0	FSTL4	132967485	1.000000	0.71417	0.314000	0.25224	0.030000	0.12068	1.863000	0.39459	0.859000	0.35456	0.655000	0.94253	AGA	FSTL4	-	NULL	ENSG00000053108		0.537	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	146	0.68	1	C	XM_048786		132939586	132939586	-1	no_errors	ENST00000265342	ensembl	human	known	69_37n	missense	99	22.05	28	SNP	0.815	A
FSTL4	23105	genome.wustl.edu	37	5	132939615	132939615	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:132939615C>T	ENST00000265342.7	-	2	309	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	20						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCATCCCAGCGCAGCCGGCA	0.527																																						dbGAP											0													64.0	71.0	68.0					5																	132939615		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.60G>A	5.37:g.132939615C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBU0|Q9UPU1	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.A20	ENST00000265342.7	37	c.60	CCDS34238.1	5																																																																																			FSTL4	-	NULL	ENSG00000053108		0.527	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	160	0.00	0	C	XM_048786		132939615	132939615	-1	no_errors	ENST00000265342	ensembl	human	known	69_37n	silent	96	14.16	16	SNP	0.001	T
FSTL5	56884	genome.wustl.edu	37	4	162307214	162307214	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:162307214T>C	ENST00000306100.5	-	16	2665	c.2229A>G	c.(2227-2229)gcA>gcG	p.A743A	FSTL5_ENST00000379164.4_Silent_p.A742A|FSTL5_ENST00000536695.1_Silent_p.A742A|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.A733A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	743						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATGGTTGAAATGCCAGATCAG	0.413																																						dbGAP											0													88.0	85.0	86.0					4																	162307214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2229A>G	4.37:g.162307214T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.A743	ENST00000306100.5	37	c.2229	CCDS3802.1	4																																																																																			FSTL5	-	NULL	ENSG00000168843		0.413	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	93	0.00	0	T	NM_020116		162307214	162307214	-1	no_errors	ENST00000306100	ensembl	human	known	69_37n	silent	51	28.17	20	SNP	0.923	C
FTL	2512	genome.wustl.edu	37	19	49469965	49469965	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:49469965C>T	ENST00000331825.6	+	4	708	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	167					cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.F167L(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AGTATCTCTTCGAAAGGCTCA	0.562																																						dbGAP											1	Substitution - Missense(1)	cervix(1)											66.0	69.0	68.0					19																	49469965		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.501C>T	19.37:g.49469965C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	p.F167	ENST00000331825.6	37	c.501	CCDS33070.1	19	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392702	0.25118	.	.	ENSG00000087086	ENST00000397259	.	.	.	4.46	-7.12	0.01537	.	.	.	.	.	T	0.68201	0.2975	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76366	-0.2985	5	0.87932	D	0	.	13.8813	0.63684	0.0:0.3274:0.0:0.6726	.	.	.	.	L	167	.	ENSP00000446314:S167L	S	+	2	0	FTL	54161777	0.948000	0.32251	0.765000	0.31456	0.975000	0.68041	-0.011000	0.12721	-1.324000	0.02272	-1.012000	0.02466	TCG	FTL	-	superfamily_Ferritin/RR-like	ENSG00000087086		0.562	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTL	HGNC	protein_coding	OTTHUMT00000466233.1	73	0.00	0	C	NM_000146		49469965	49469965	+1	no_errors	ENST00000331825	ensembl	human	known	69_37n	silent	21	30.00	9	SNP	0.657	T
FUCA2	2519	genome.wustl.edu	37	6	143816977	143816977	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:143816977A>C	ENST00000002165.6	-	7	1326	c.1271T>G	c.(1270-1272)cTa>cGa	p.L424R	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	424					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ATGGCCCAGTAGTTTCACCTG	0.393																																						dbGAP											0													92.0	85.0	87.0					6																	143816977		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1271T>G	6.37:g.143816977A>C	ENSP00000002165:p.Leu424Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.L424R	ENST00000002165.6	37	c.1271	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295228	0.81025	.	.	ENSG00000001036	ENST00000002165	T	0.61742	0.08	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.92412	3.305	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.83988	0.0336	10	0.87932	D	0	-11.658	15.5007	0.75698	1.0:0.0:0.0:0.0	.	424	Q9BTY2	FUCO2_HUMAN	R	424	ENSP00000002165:L424R	ENSP00000002165:L424R	L	-	2	0	FUCA2	143858670	1.000000	0.71417	0.981000	0.43875	0.936000	0.57629	8.701000	0.91331	2.082000	0.62665	0.528000	0.53228	CTA	FUCA2	-	pirsf_Glyco_hydro_29_sub	ENSG00000001036		0.393	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	129	0.00	0	A	NM_032020		143816977	143816977	-1	no_errors	ENST00000002165	ensembl	human	known	69_37n	missense	88	22.81	26	SNP	0.992	C
FUNDC1	139341	genome.wustl.edu	37	X	44386527	44386527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:44386527G>A	ENST00000378045.4	-	4	514	c.346C>T	c.(346-348)Cga>Tga	p.R116*	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	116					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						TTGTTCGCTCGTTTCTTAATC	0.294																																						dbGAP											0													139.0	112.0	121.0					X																	44386527		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.346C>T	X.37:g.44386527G>A	ENSP00000367284:p.Arg116*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_FUN14	p.R116*	ENST00000378045.4	37	c.346	CCDS14263.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.599740	0.96614	.	.	ENSG00000069509	ENST00000378045	.	.	.	5.75	3.79	0.43588	.	0.210845	0.45361	D	0.000375	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8036	11.5393	0.50657	0.0:0.224:0.6442:0.1318	.	.	.	.	X	116	.	ENSP00000367284:R116X	R	-	1	2	FUNDC1	44271471	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.099000	0.50267	1.176000	0.42840	0.594000	0.82650	CGA	FUNDC1	-	pfam_FUN14	ENSG00000069509		0.294	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC1	HGNC	protein_coding	OTTHUMT00000056320.1	978	0.00	0	G	NM_173794		44386527	44386527	-1	no_errors	ENST00000378045	ensembl	human	known	69_37n	nonsense	646	11.94	88	SNP	1.000	A
FUT11	170384	genome.wustl.edu	37	10	75533329	75533329	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:75533329C>A	ENST00000372841.3	+	2	1133	c.1090C>A	c.(1090-1092)Ctt>Att	p.L364I	FUT11_ENST00000394790.1_Missense_Mutation_p.L364I|RMRPP1_ENST00000517236.1_RNA|FUT11_ENST00000465695.1_3'UTR|AC022400.2_ENST00000595757.1_5'Flank	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	364					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CAACCAATTTCTTCTGGATAG	0.473																																						dbGAP											0													100.0	95.0	97.0					10																	75533329		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1090C>A	10.37:g.75533329C>A	ENSP00000361932:p.Leu364Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495W7|Q8IYE4	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.L364I	ENST00000372841.3	37	c.1090	CCDS7333.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458975	0.84317	.	.	ENSG00000196968	ENST00000372841;ENST00000394790	T;T	0.28069	1.63;1.63	5.68	5.68	0.88126	.	0.132634	0.50627	D	0.000113	T	0.52581	0.1743	M	0.78223	2.4	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56836	-0.7913	10	0.72032	D	0.01	-11.2382	7.4261	0.27100	0.0:0.8014:0.0:0.1986	.	364;364	Q495W5;Q495W5-2	FUT11_HUMAN;.	I	364	ENSP00000361932:L364I;ENSP00000378270:L364I	ENSP00000361932:L364I	L	+	1	0	FUT11	75203335	0.997000	0.39634	0.994000	0.49952	0.968000	0.65278	2.078000	0.41567	2.676000	0.91093	0.563000	0.77884	CTT	FUT11	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	ENSG00000196968		0.473	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT11	HGNC	protein_coding	OTTHUMT00000048689.1	146	0.00	0	C	NM_173540		75533329	75533329	+1	no_errors	ENST00000372841	ensembl	human	known	69_37n	missense	112	12.50	16	SNP	1.000	A
FUT8	2530	genome.wustl.edu	37	14	66135964	66135964	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:66135964C>A	ENST00000360689.5	+	7	2328	c.601C>A	c.(601-603)Ccc>Acc	p.P201T	FUT8_ENST00000394585.1_Missense_Mutation_p.P201T|FUT8_ENST00000358307.2_Missense_Mutation_p.P72T|FUT8_ENST00000557164.1_Missense_Mutation_p.P38T|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000417683.1_5'Flank|FUT8_ENST00000394586.2_Missense_Mutation_p.P201T	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	201					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CTGACAGAATCCCAAGGACTG	0.408																																						dbGAP											0													77.0	72.0	74.0					14																	66135964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.601C>A	14.37:g.66135964C>A	ENSP00000353910:p.Pro201Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.P201T	ENST00000360689.5	37	c.601	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523765	0.85600	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.80540	-0.1337	10	0.87932	D	0	-9.5716	17.6669	0.88205	0.0:1.0:0.0:0.0	.	72;201	G3XAD2;Q9BYC5	.;FUT8_HUMAN	T	201;201;38;201;72	ENSP00000353910:P201T;ENSP00000378087:P201T;ENSP00000452433:P38T;ENSP00000378086:P201T;ENSP00000351057:P72T	ENSP00000345865:P201T	P	+	1	0	FUT8	65205717	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CCC	FUT8	-	pirsf_Alpha1_6FUT_euk	ENSG00000033170		0.408	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	237	0.00	0	C	NM_004480		66135964	66135964	+1	no_errors	ENST00000360689	ensembl	human	known	69_37n	missense	174	10.77	21	SNP	1.000	A
FYCO1	79443	genome.wustl.edu	37	3	46008073	46008073	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:46008073T>G	ENST00000296137.2	-	8	2958	c.2753A>C	c.(2752-2754)gAa>gCa	p.E918A	FYCO1_ENST00000535325.1_Missense_Mutation_p.E918A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	918					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCGCTCCTTTTCCACGGTCAG	0.632																																						dbGAP											0													52.0	50.0	50.0					3																	46008073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2753A>C	3.37:g.46008073T>G	ENSP00000296137:p.Glu918Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E918A	ENST00000296137.2	37	c.2753	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594342	0.46214	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.80304	-1.36;-1.36	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.88555	0.6468	M	0.74258	2.255	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.88109	0.2824	10	0.39692	T	0.17	-29.8562	13.9789	0.64291	0.0:0.0:0.0:1.0	.	918;918	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	A	918	ENSP00000296137:E918A;ENSP00000441178:E918A	ENSP00000296137:E918A	E	-	2	0	FYCO1	45983077	1.000000	0.71417	0.802000	0.32245	0.014000	0.08584	7.988000	0.88194	2.050000	0.60909	0.533000	0.62120	GAA	FYCO1	-	NULL	ENSG00000163820		0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	50	0.00	0	T	NM_024513		46008073	46008073	-1	no_errors	ENST00000535325	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	G
FZD10	11211	genome.wustl.edu	37	12	130648738	130648738	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:130648738C>T	ENST00000229030.4	+	1	1735	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	FZD10_ENST00000539839.1_Missense_Mutation_p.R385C|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	417					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F417F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCTCGGGCTTCGTGGCCCTGT	0.617																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											148.0	135.0	140.0					12																	130648738		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1251C>T	12.37:g.130648738C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R385C	ENST00000229030.4	37	c.1153	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131531	0.21041	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	3.37	0.38596	.	.	.	.	.	T	0.64057	0.2564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63844	-0.6545	5	0.87932	D	0	.	8.2495	0.31708	0.0:0.613:0.0:0.387	.	.	.	.	C	385	.	ENSP00000438460:R385C	R	+	1	0	FZD10	129214691	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	0.344000	0.19962	0.573000	0.29400	0.561000	0.74099	CGT	FZD10	-	NULL	ENSG00000111432		0.617	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		84	0.00	0	C			130648738	130648738	+1	no_errors	ENST00000539839	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	T
FZD3	7976	genome.wustl.edu	37	8	28385478	28385478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:28385478C>T	ENST00000240093.3	+	5	1679	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	FZD3_ENST00000537916.1_Nonsense_Mutation_p.R401*|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	401					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R401*(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AAACAGAGTTCGAATTGAGAT	0.403																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											136.0	136.0	136.0					8																	28385478		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1201C>T	8.37:g.28385478C>T	ENSP00000240093:p.Arg401*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K615	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.R401*	ENST00000240093.3	37	c.1201	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	C	42	9.652083	0.99230	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8242	0.88660	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000240093:R401X	R	+	1	2	FZD3	28441397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.549000	0.85964	0.563000	0.77884	CGA	FZD3	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000104290		0.403	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	HGNC	protein_coding	OTTHUMT00000219986.2	574	0.00	0	C	NM_145866		28385478	28385478	+1	no_errors	ENST00000240093	ensembl	human	known	69_37n	nonsense	475	13.87	77	SNP	1.000	T
G2E3	55632	genome.wustl.edu	37	14	31074844	31074844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31074844C>T	ENST00000206595.6	+	11	1298	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000438909.2_Nonsense_Mutation_p.R336*|G2E3_ENST00000553504.1_Nonsense_Mutation_p.R412*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	382	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCAGAAATCGAAACTTTAA	0.299																																						dbGAP											0													63.0	62.0	62.0					14																	31074844		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1144C>T	14.37:g.31074844C>T	ENSP00000206595:p.Arg382*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.R382*	ENST00000206595.6	37	c.1144	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	C	47	13.646512	0.99755	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.46	2.58	0.30949	.	0.444574	0.25732	N	0.028669	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0641	10.4459	0.44495	0.2719:0.5973:0.1307:0.0	.	.	.	.	X	382;336;412	.	ENSP00000206595:R382X	R	+	1	2	G2E3	30144595	0.990000	0.36364	0.594000	0.28785	0.403000	0.30841	0.403000	0.20982	0.338000	0.23692	-0.983000	0.02560	CGA	G2E3	-	superfamily_HECT,smart_HECT	ENSG00000092140		0.299	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	158	0.00	0	C	NM_017769		31074844	31074844	+1	no_errors	ENST00000206595	ensembl	human	known	69_37n	nonsense	120	25.93	42	SNP	0.965	T
GAA	2548	genome.wustl.edu	37	17	78090810	78090810	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78090810C>A	ENST00000302262.3	+	16	2452	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	GAA_ENST00000390015.3_Missense_Mutation_p.L745M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	745					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCACCAGCTCCTGTGGGGGGA	0.632																																						dbGAP											0													70.0	68.0	68.0					17																	78090810		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2233C>A	17.37:g.78090810C>A	ENSP00000305692:p.Leu745Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.L745M	ENST00000302262.3	37	c.2233	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	18.51	3.638622	0.67130	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91521	-2.86;-2.86	5.1	2.85	0.33270	.	0.119263	0.45126	D	0.000398	D	0.87931	0.6302	L	0.31294	0.92	0.41032	D	0.985168	P	0.51147	0.942	P	0.55824	0.785	D	0.83673	0.0167	10	0.39692	T	0.17	-17.0204	5.8827	0.18864	0.3232:0.574:0.0:0.1028	.	745	P10253	LYAG_HUMAN	M	745	ENSP00000305692:L745M;ENSP00000374665:L745M	ENSP00000305692:L745M	L	+	1	2	GAA	75705405	0.536000	0.26378	1.000000	0.80357	0.985000	0.73830	0.410000	0.21098	0.332000	0.23536	0.591000	0.81541	CTG	GAA	-	pfam_Glyco_hydro_31	ENSG00000171298		0.632	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	38	0.00	0	C			78090810	78090810	+1	no_errors	ENST00000302262	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	A
GAB1	2549	genome.wustl.edu	37	4	144390327	144390327	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:144390327G>A	ENST00000262994.4	+	10	2372	c.2070G>A	c.(2068-2070)gcG>gcA	p.A690A	GAB1_ENST00000262995.4_Silent_p.A720A|GAB1_ENST00000505913.1_Silent_p.A587A	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	690					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AAACGCCAGCGAAGAGTGTGA	0.418																																						dbGAP											0													96.0	100.0	99.0					4																	144390327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.2070G>A	4.37:g.144390327G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K152|Q4W5G2|Q6P1W2	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A720	ENST00000262994.4	37	c.2160	CCDS3759.1	4																																																																																			GAB1	-	NULL	ENSG00000109458		0.418	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	367	0.00	0	G	NM_002039		144390327	144390327	+1	no_errors	ENST00000262995	ensembl	human	known	69_37n	silent	193	12.27	27	SNP	0.994	A
GABPB1	2553	genome.wustl.edu	37	15	50596224	50596224	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:50596224C>T	ENST00000220429.8	-	3	383	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	GABPB1_ENST00000396464.3_Missense_Mutation_p.R72Q|GABPB1_ENST00000380877.3_Missense_Mutation_p.R72Q|GABPB1_ENST00000560825.1_Missense_Mutation_p.R72Q|GABPB1_ENST00000359031.4_Missense_Mutation_p.R72Q|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000429662.2_Missense_Mutation_p.R72Q			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	72					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TAATGGTGTTCGGTCCACTTT	0.448																																						dbGAP											0													205.0	161.0	175.0					15																	50596224		2196	4295	6491	-	-	-	SO:0001583	missense	0			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.215G>A	15.37:g.50596224C>T	ENSP00000220429:p.Arg72Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R72Q	ENST00000220429.8	37	c.215	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.538494	0.96474	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	N	0.13272	0.32	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.995;0.992;1.0;0.992	D;P;P;D;P	0.83275	0.996;0.894;0.528;0.99;0.45	T	0.69351	-0.5168	10	0.41790	T	0.15	-10.5309	19.6374	0.95740	0.0:1.0:0.0:0.0	.	72;72;72;72;72	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	Q	72	ENSP00000220429:R72Q;ENSP00000370259:R72Q;ENSP00000379728:R72Q;ENSP00000395771:R72Q;ENSP00000351923:R72Q	ENSP00000220429:R72Q	R	-	2	0	GABPB1	48383516	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.066000	0.71185	2.711000	0.92665	0.563000	0.77884	CGA	GABPB1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104064		0.448	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1	297	0.00	0	C			50596224	50596224	-1	no_errors	ENST00000220429	ensembl	human	known	69_37n	missense	292	28.26	115	SNP	1.000	T
GABRA1	2554	genome.wustl.edu	37	5	161292755	161292755	+	Silent	SNP	C	C	A	rs200716712		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:161292755C>A	ENST00000428797.2	+	5	571	c.216C>A	c.(214-216)atC>atA	p.I72I	GABRA1_ENST00000393943.4_Silent_p.I72I|GABRA1_ENST00000444819.1_Silent_p.I72I|GABRA1_ENST00000437025.2_Silent_p.I72I|GABRA1_ENST00000420560.1_Silent_p.I72I|GABRA1_ENST00000023897.6_Silent_p.I72I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	72					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGACTGATATCTTCGTCACCA	0.403																																						dbGAP											0													207.0	186.0	193.0					5																	161292755		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.216C>A	5.37:g.161292755C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQK6|Q8N629	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.I72	ENST00000428797.2	37	c.216	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000022355		0.403	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	534	0.00	0	C	NM_000806.5		161292755	161292755	+1	no_errors	ENST00000023897	ensembl	human	known	69_37n	silent	334	12.53	48	SNP	1.000	A
GABRA1	2554	genome.wustl.edu	37	5	161309687	161309687	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:161309687G>A	ENST00000428797.2	+	8	1038	c.683G>A	c.(682-684)gGa>gAa	p.G228E	GABRA1_ENST00000393943.4_Missense_Mutation_p.G228E|GABRA1_ENST00000444819.1_Missense_Mutation_p.G228E|GABRA1_ENST00000437025.2_Missense_Mutation_p.G228E|GABRA1_ENST00000420560.1_Missense_Mutation_p.G228E|GABRA1_ENST00000023897.6_Missense_Mutation_p.G228E	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	228					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTAGACTCTGGAATTGTCCAG	0.398																																						dbGAP											0													136.0	119.0	125.0					5																	161309687		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.683G>A	5.37:g.161309687G>A	ENSP00000393097:p.Gly228Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.G228E	ENST00000428797.2	37	c.683	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	G	7.056	0.565363	0.13498	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.54	5.54	0.83059	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	N	0.00186	-1.895	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.60352	-0.7280	10	0.02654	T	1	.	19.8414	0.96690	0.0:0.0:1.0:0.0	.	228	P14867	GBRA1_HUMAN	E	228	ENSP00000023897:G228E;ENSP00000393097:G228E;ENSP00000377517:G228E;ENSP00000415441:G228E;ENSP00000408041:G228E;ENSP00000414232:G228E	ENSP00000023897:G228E	G	+	2	0	GABRA1	161242265	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.822000	0.62686	2.763000	0.94921	0.650000	0.86243	GGA	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000022355		0.398	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	289	0.00	0	G	NM_000806.5		161309687	161309687	+1	no_errors	ENST00000023897	ensembl	human	known	69_37n	missense	266	16.25	52	SNP	1.000	A
GABRA1	2554	genome.wustl.edu	37	5	161317947	161317947	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:161317947G>T	ENST00000428797.2	+	9	1102	c.747G>T	c.(745-747)aaG>aaT	p.K249N	GABRA1_ENST00000393943.4_Missense_Mutation_p.K249N|GABRA1_ENST00000444819.1_Missense_Mutation_p.K249N|GABRA1_ENST00000437025.2_Missense_Mutation_p.K249N|GABRA1_ENST00000420560.1_Missense_Mutation_p.K249N|GABRA1_ENST00000023897.6_Missense_Mutation_p.K249N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	249					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAAGAGAAAGATTGGCTACT	0.378																																						dbGAP											0													136.0	128.0	131.0					5																	161317947		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.747G>T	5.37:g.161317947G>T	ENSP00000393097:p.Lys249Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K249N	ENST00000428797.2	37	c.747	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817516	0.70912	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.52	1.7	0.24286	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	L	0.37561	1.115	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.71988	-0.4426	10	0.22706	T	0.39	.	9.6454	0.39863	0.3514:0.0:0.6486:0.0	.	249	P14867	GBRA1_HUMAN	N	249	ENSP00000023897:K249N;ENSP00000393097:K249N;ENSP00000377517:K249N;ENSP00000415441:K249N;ENSP00000408041:K249N;ENSP00000414232:K249N	ENSP00000023897:K249N	K	+	3	2	GABRA1	161250525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.396000	0.34531	0.293000	0.22520	0.650000	0.86243	AAG	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000022355		0.378	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	213	0.00	0	G	NM_000806.5		161317947	161317947	+1	no_errors	ENST00000023897	ensembl	human	known	69_37n	missense	119	29.59	50	SNP	0.998	T
GABRA4	2557	genome.wustl.edu	37	4	46967115	46967115	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:46967115C>T	ENST00000264318.3	-	8	1988	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	336					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCAGCAAACTCGATAAGGGCC	0.468																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0													131.0	122.0	125.0					4																	46967115		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1006G>A	4.37:g.46967115C>T	ENSP00000264318:p.Glu336Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E336K	ENST00000264318.3	37	c.1006	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.501599	0.96371	.	.	ENSG00000109158	ENST00000264318	D	0.87491	-2.26	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93779	0.8011	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94635	0.7825	10	0.87932	D	0	.	17.0404	0.86488	0.0:1.0:0.0:0.0	.	336	P48169	GBRA4_HUMAN	K	336	ENSP00000264318:E336K	ENSP00000264318:E336K	E	-	1	0	GABRA4	46661872	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.481000	0.83766	0.591000	0.81541	GAG	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	601	0.00	0	C			46967115	46967115	-1	no_errors	ENST00000264318	ensembl	human	known	69_37n	missense	315	29.18	131	SNP	1.000	T
GABRA5	2558	genome.wustl.edu	37	15	27114375	27114375	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:27114375C>A	ENST00000335625.5	+	0	868				GABRA5_ENST00000355395.5_5'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_5'UTR|GABRA5_ENST00000557449.1_3'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TCACCTGCTTCAACTACTATT	0.403																																						dbGAP											0													183.0	175.0	178.0					15																	27114375		1900	4102	6002	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.-21C>A	15.37:g.27114375C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	RNA	SNP	-	NULL	ENST00000335625.5	37	NULL	CCDS45194.1	15																																																																																			GABRA5	-	-	ENSG00000186297		0.403	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	241	0.00	0	C			27114375	27114375	+1	no_errors	ENST00000557449	ensembl	human	known	69_37n	rna	159	10.17	18	SNP	0.934	A
GABRA6	2559	genome.wustl.edu	37	5	161119077	161119077	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:161119077C>T	ENST00000274545.5	+	8	1390	c.957C>T	c.(955-957)atC>atT	p.I319I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Silent_p.I309I			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	319					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTGCGCTTATCGAGTTCGCAG	0.478										TCGA Ovarian(5;0.080)																												dbGAP											0													168.0	140.0	150.0					5																	161119077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.957C>T	5.37:g.161119077C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K096|Q4VAV2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.I319	ENST00000274545.5	37	c.957	CCDS4356.1	5																																																																																			GABRA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000145863		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	237	0.00	0	C			161119077	161119077	+1	no_errors	ENST00000274545	ensembl	human	known	69_37n	silent	163	16.75	33	SNP	0.998	T
GABRB1	2560	genome.wustl.edu	37	4	47163373	47163373	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:47163373C>A	ENST00000295454.3	+	4	640	c.348C>A	c.(346-348)ctC>ctA	p.L116L	GABRB1_ENST00000538619.1_Silent_p.L46L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	116					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.L116L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGACCAACTCTGGGTACCAG	0.443																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											148.0	147.0	148.0					4																	47163373		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.348C>A	4.37:g.47163373C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L116	ENST00000295454.3	37	c.348	CCDS3474.1	4																																																																																			GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000163288		0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	413	0.00	0	C			47163373	47163373	+1	no_errors	ENST00000295454	ensembl	human	known	69_37n	silent	201	13.73	32	SNP	1.000	A
GABRB1	2560	genome.wustl.edu	37	4	47427693	47427693	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:47427693C>T	ENST00000295454.3	+	9	1375	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	GABRB1_ENST00000538619.1_Silent_p.V291V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	361					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCATCAGGTCGACGCCCACG	0.517																																						dbGAP											0													74.0	68.0	70.0					4																	47427693		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1083C>T	4.37:g.47427693C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V361	ENST00000295454.3	37	c.1083	CCDS3474.1	4																																																																																			GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.517	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	94	0.00	0	C			47427693	47427693	+1	no_errors	ENST00000295454	ensembl	human	known	69_37n	silent	33	36.54	19	SNP	0.003	T
GABRB2	2561	genome.wustl.edu	37	5	160721162	160721162	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:160721162G>A	ENST00000393959.1	-	10	1464	c.1465C>T	c.(1465-1467)Cgg>Tgg	p.R489W	GABRB2_ENST00000353437.6_Missense_Mutation_p.R451W|GABRB2_ENST00000517547.1_Missense_Mutation_p.R291W|GABRB2_ENST00000520240.1_Missense_Mutation_p.R451W|GABRB2_ENST00000274547.2_Missense_Mutation_p.R489W|GABRB2_ENST00000517901.1_Missense_Mutation_p.R388W			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	489					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGGGACCACCGATCTATGGCA	0.478																																						dbGAP											0													134.0	127.0	129.0					5																	160721162		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1465C>T	5.37:g.160721162G>A	ENSP00000377531:p.Arg489Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.R489W	ENST00000393959.1	37	c.1465	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789555	0.70337	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.75	4.88	0.63580	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.151546	0.64402	D	0.000019	D	0.92867	0.7731	L	0.58510	1.815	0.49798	D	0.999827	D;D;D;D	0.89917	0.974;0.994;1.0;0.997	P;D;D;D	0.87578	0.813;0.965;0.998;0.914	D	0.93425	0.6780	10	0.87932	D	0	.	13.9675	0.64218	0.0:0.0:0.6102:0.3898	.	291;388;489;451	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	W	489;489;451;451;388;291	ENSP00000377531:R489W;ENSP00000274547:R489W;ENSP00000274546:R451W;ENSP00000429320:R451W;ENSP00000430532:R388W;ENSP00000429750:R291W	ENSP00000274547:R489W	R	-	1	2	GABRB2	160653740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.781000	0.47750	1.411000	0.46957	0.655000	0.94253	CGG	GABRB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAb_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000145864		0.478	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1	366	0.00	0	G			160721162	160721162	-1	no_errors	ENST00000274547	ensembl	human	known	69_37n	missense	207	25.89	73	SNP	1.000	A
GABRQ	55879	genome.wustl.edu	37	X	151821345	151821345	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:151821345C>A	ENST00000370306.2	+	9	1520	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	500					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGAAGATTCCAATGAGAGCT	0.547																																						dbGAP											0													91.0	80.0	84.0					X																	151821345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1500C>A	X.37:g.151821345C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S500	ENST00000370306.2	37	c.1500	CCDS14707.1	X																																																																																			GABRQ	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000147402		0.547	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	74	0.00	0	C	NM_018558		151821345	151821345	+1	no_errors	ENST00000370306	ensembl	human	known	69_37n	silent	108	13.60	17	SNP	0.000	A
GABRR1	2569	genome.wustl.edu	37	6	89907905	89907905	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:89907905G>A	ENST00000454853.2	-	5	516	c.406C>T	c.(406-408)Cca>Tca	p.P136S	GABRR1_ENST00000435811.1_Missense_Mutation_p.P119S|GABRR1_ENST00000369451.3_Missense_Mutation_p.P49S	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	136					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTGGTGCTTGGAAAAGACAGC	0.537																																						dbGAP											0													316.0	289.0	298.0					6																	89907905		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.406C>T	6.37:g.89907905G>A	ENSP00000412673:p.Pro136Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel	p.P136S	ENST00000454853.2	37	c.406	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892082	0.52014	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.76839	-1.05;-1.05;-1.05	5.92	5.92	0.95590	Neurotransmitter-gated ion-channel ligand-binding (3);	0.263051	0.44097	D	0.000487	T	0.59155	0.2173	L	0.31207	0.915	0.52501	D	0.999956	B;B	0.27068	0.138;0.167	B;B	0.27608	0.049;0.081	T	0.57189	-0.7854	9	.	.	.	-27.7323	20.3242	0.98691	0.0:0.0:1.0:0.0	.	119;136	P24046-2;P24046	.;GBRR1_HUMAN	S	136;119;49;49	ENSP00000412673:P136S;ENSP00000394687:P119S;ENSP00000358463:P49S	.	P	-	1	0	GABRR1	89964624	1.000000	0.71417	0.979000	0.43373	0.870000	0.49936	6.421000	0.73353	2.811000	0.96726	0.555000	0.69702	CCA	GABRR1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000146276		0.537	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	HGNC	protein_coding	OTTHUMT00000041479.2	245	0.00	0	G			89907905	89907905	-1	no_errors	ENST00000454853	ensembl	human	known	69_37n	missense	158	11.73	21	SNP	1.000	A
GABRR3	200959	genome.wustl.edu	37	3	97744433	97744433	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97744433G>A	ENST00000472788.1	-	0	217					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTCTCATTGCGAAATCGTTGT	0.403																																						dbGAP											0													137.0	130.0	132.0					3																	97744433		1859	4097	5956	-	-	-			0			Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744433G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UIV9	Silent	SNP	NULL	p.F72	ENST00000472788.1	37	c.216		3																																																																																			GABRR3	-	NULL	ENSG00000183185		0.403	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	GABRR3	HGNC	polymorphic_pseudogene	OTTHUMT00000353445.2	525	0.00	0	G			97744433	97744433	-1	pseudogene	ENST00000472788	ensembl	human	known	69_37n	silent	341	13.35	53	SNP	1.000	A
GAL3ST3	89792	genome.wustl.edu	37	11	65812790	65812790	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65812790G>T	ENST00000312006.4	-	2	378	c.97C>A	c.(97-99)Ctc>Atc	p.L33I	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.L33I	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	33					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TGGTGGATGAGAAGGCTTACG	0.662											OREG0021093	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													28.0	24.0	25.0					11																	65812790		2201	4296	6497	-	-	-	SO:0001583	missense	0			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.97C>A	11.37:g.65812790G>T	ENSP00000308591:p.Leu33Ile	Somatic	1087	WXS	Illumina GAIIx	Phase_IV	Q14D05	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.L33I	ENST00000312006.4	37	c.97	CCDS8128.1	11	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727442	0.89390	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.21932	1.98;1.98	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000028	T	0.37652	0.1011	L	0.47716	1.5	0.46609	D	0.99912	D	0.62365	0.991	D	0.76071	0.987	T	0.02244	-1.1189	10	0.27082	T	0.32	-39.9202	14.3224	0.66496	0.0:0.0:1.0:0.0	.	33	Q96A11	G3ST3_HUMAN	I	33	ENSP00000308591:L33I;ENSP00000434829:L33I	ENSP00000308591:L33I	L	-	1	0	GAL3ST3	65569366	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.928000	0.63447	2.452000	0.82932	0.561000	0.74099	CTC	GAL3ST3	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000175229		0.662	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST3	HGNC	protein_coding	OTTHUMT00000391052.1	31	0.00	0	G	NM_033036		65812790	65812790	-1	no_errors	ENST00000312006	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	T
GAL3ST4	79690	genome.wustl.edu	37	7	99764693	99764693	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99764693G>A	ENST00000360039.4	-	2	418	c.26C>T	c.(25-27)aCg>aTg	p.T9M	GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.T9M|GPC2_ENST00000471050.1_5'Flank|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.T9M|GAL3ST4_ENST00000426974.2_Silent_p.D48D|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.T9M	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	9					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCCGCAGCGTCCTGGCAGG	0.642																																						dbGAP											0													20.0	23.0	22.0					7																	99764693		2164	4248	6412	-	-	-	SO:0001583	missense	0			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.26C>T	7.37:g.99764693G>A	ENSP00000353142:p.Thr9Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.T9M	ENST00000360039.4	37	c.26	CCDS5688.1	7	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297178	0.60086	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000423751;ENST00000411994	T;T	0.32515	1.45;1.45	4.95	2.82	0.32997	.	0.866208	0.09691	U	0.768372	T	0.19446	0.0467	L	0.36672	1.1	0.80722	D	1	P	0.48911	0.917	B	0.35813	0.211	T	0.10222	-1.0639	10	0.34782	T	0.22	-13.2583	7.0823	0.25237	0.108:0.181:0.711:0.0	.	9	Q96RP7	G3ST4_HUMAN	M	9	ENSP00000400451:T9M;ENSP00000353142:T9M	ENSP00000353142:T9M	T	-	2	0	GAL3ST4	99602629	0.966000	0.33281	0.899000	0.35326	0.918000	0.54935	0.497000	0.22514	2.318000	0.78349	0.313000	0.20887	ACG	GAL3ST4	-	NULL	ENSG00000197093		0.642	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST4	HGNC	protein_coding	OTTHUMT00000337495.2	295	0.00	0	G	NM_024637		99764693	99764693	-1	no_errors	ENST00000360039	ensembl	human	known	69_37n	missense	219	16.73	44	SNP	0.946	A
GALK2	2585	genome.wustl.edu	37	15	49509489	49509489	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:49509489C>T	ENST00000560031.1	+	3	552	c.245C>T	c.(244-246)gCc>gTc	p.A82V	GALK2_ENST00000559454.1_Missense_Mutation_p.A58V|GALK2_ENST00000543495.1_5'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.A58V|GALK2_ENST00000327171.3_Missense_Mutation_p.A71V|GALK2_ENST00000396509.2_Missense_Mutation_p.A58V			Q01415	GALK2_HUMAN	galactokinase 2	82					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CTCCAACTGGCCAATACAAAT	0.378																																						dbGAP											0													143.0	140.0	141.0					15																	49509489		2196	4295	6491	-	-	-	SO:0001583	missense	0				CCDS32236.1, CCDS42034.1, CCDS73724.1	15q21.1-q21.2	2013-09-20			ENSG00000156958	ENSG00000156958	2.7.1.6		4119	protein-coding gene	gene with protein product		137028					Standard	XM_005254279		Approved	GK2	uc001zxj.1	Q01415	OTTHUMG00000172325	ENST00000560031.1:c.245C>T	15.37:g.49509489C>T	ENSP00000453129:p.Ala82Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Q4	Missense_Mutation	SNP	pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase	p.A82V	ENST00000560031.1	37	c.245	CCDS42034.1	15	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484780	0.63962	.	.	ENSG00000156958	ENST00000327171;ENST00000396509;ENST00000544523	D;D	0.83250	-1.7;-1.7	5.13	4.19	0.49359	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.116079	0.64402	D	0.000014	T	0.82075	0.4958	M	0.79123	2.44	0.80722	D	1	B;B	0.28667	0.108;0.219	B;B	0.20577	0.012;0.03	T	0.79916	-0.1601	10	0.41790	T	0.15	-11.9015	15.0541	0.71897	0.0:0.8567:0.1433:0.0	.	82;71	Q01415;Q7Z4Q4	GALK2_HUMAN;.	V	71;82;58	ENSP00000316632:A71V;ENSP00000440312:A58V	ENSP00000316632:A71V	A	+	2	0	GALK2	47296781	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.620000	0.54203	1.111000	0.41721	0.655000	0.94253	GCC	GALK2	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase	ENSG00000156958		0.378	GALK2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GALK2	HGNC	protein_coding	OTTHUMT00000417854.1	231	0.00	0	C			49509489	49509489	+1	no_errors	ENST00000560031	ensembl	human	known	69_37n	missense	109	22.14	31	SNP	1.000	T
GALNT10	55568	genome.wustl.edu	37	5	153755973	153755973	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:153755973C>A	ENST00000297107.6	+	5	842	c.705C>A	c.(703-705)ttC>ttA	p.F235L	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.F235L|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	235	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCATCACATTCTTGGATTCAC	0.547																																						dbGAP											0													84.0	78.0	80.0					5																	153755973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.705C>A	5.37:g.153755973C>A	ENSP00000297107:p.Phe235Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F235L	ENST00000297107.6	37	c.705	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575379	0.86645	.	.	ENSG00000164574	ENST00000425427;ENST00000297107	T;T	0.62788	0.0;0.0	6.07	3.77	0.43336	Glycosyl transferase, family 2 (1);	0.086299	0.85682	D	0.000000	T	0.80465	0.4628	M	0.91354	3.2	0.80722	D	1	D;D	0.61080	0.989;0.987	P;P	0.60473	0.875;0.802	D	0.85670	0.1294	10	0.87932	D	0	.	13.9057	0.63834	0.0:0.8535:0.0:0.1465	.	235;235	Q86SR1;Q86SR1-3	GLT10_HUMAN;.	L	235	ENSP00000415210:F235L;ENSP00000297107:F235L	ENSP00000297107:F235L	F	+	3	2	GALNT10	153736166	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.163000	0.50763	1.415000	0.47037	0.655000	0.94253	TTC	GALNT10	-	pfam_Glyco_trans_2	ENSG00000164574		0.547	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	165	0.00	0	C	NM_198321		153755973	153755973	+1	no_errors	ENST00000297107	ensembl	human	known	69_37n	missense	98	13.27	15	SNP	1.000	A
GALNT10	55568	genome.wustl.edu	37	5	153789119	153789119	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:153789119G>A	ENST00000297107.6	+	9	1320	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.E68K|GALNT10_ENST00000377661.2_Missense_Mutation_p.E333K|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	395					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GCGGGTGGCCGAAGTGTGGAT	0.572																																						dbGAP											0													120.0	130.0	127.0					5																	153789119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1183G>A	5.37:g.153789119G>A	ENSP00000297107:p.Glu395Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E395K	ENST00000297107.6	37	c.1183	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500172	0.85176	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.70631	-0.5;-0.5;-0.5	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.86740	2.835	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.98;0.997;0.929	D	0.88543	0.3111	10	0.87932	D	0	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	333;66;395	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	K	395;333;68	ENSP00000297107:E395K;ENSP00000366889:E333K;ENSP00000366885:E68K	ENSP00000297107:E395K	E	+	1	0	GALNT10	153769312	1.000000	0.71417	0.388000	0.26195	0.227000	0.25037	9.640000	0.98453	2.700000	0.92200	0.561000	0.74099	GAA	GALNT10	-	NULL	ENSG00000164574		0.572	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	164	0.00	0	G	NM_198321		153789119	153789119	+1	no_errors	ENST00000297107	ensembl	human	known	69_37n	missense	107	18.32	24	SNP	1.000	A
GALNT12	79695	genome.wustl.edu	37	9	101599330	101599330	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:101599330A>G	ENST00000375011.3	+	6	1112	c.1112A>G	c.(1111-1113)tAc>tGc	p.Y371C		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	371					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CAAGCTCCCTACTCCCGCAAC	0.537																																						dbGAP											0													203.0	183.0	190.0					9																	101599330		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1112A>G	9.37:g.101599330A>G	ENSP00000364150:p.Tyr371Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Y371C	ENST00000375011.3	37	c.1112	CCDS6737.1	9	.	.	.	.	.	.	.	.	.	.	A	22.6	4.307014	0.81247	.	.	ENSG00000119514	ENST00000375011	T	0.59502	0.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.83617	0.5293	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88881	0.3339	10	0.87932	D	0	.	13.9745	0.64262	1.0:0.0:0.0:0.0	.	371	Q8IXK2	GLT12_HUMAN	C	371	ENSP00000364150:Y371C	ENSP00000364150:Y371C	Y	+	2	0	GALNT12	100639151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.198000	0.70561	0.533000	0.62120	TAC	GALNT12	-	NULL	ENSG00000119514		0.537	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	HGNC	protein_coding	OTTHUMT00000053382.1	176	0.00	0	A	NM_024642		101599330	101599330	+1	no_errors	ENST00000375011	ensembl	human	known	69_37n	missense	104	30.46	46	SNP	1.000	G
GALNT13	114805	genome.wustl.edu	37	2	155099312	155099312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:155099312C>T	ENST00000392825.3	+	6	1147	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.R194*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	194	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCCCGTCTTCGAGGAGCAGC	0.423																																						dbGAP											0													71.0	69.0	70.0					2																	155099312		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.580C>T	2.37:g.155099312C>T	ENSP00000376570:p.Arg194*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R194*	ENST00000392825.3	37	c.580	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.149421	0.99348	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.6128	0.62091	0.155:0.845:0.0:0.0	.	.	.	.	X	194	.	ENSP00000376570:R194X	R	+	1	2	GALNT13	154807558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.665000	0.90641	0.591000	0.81541	CGA	GALNT13	-	pfam_Glyco_trans_2	ENSG00000144278		0.423	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	130	0.00	0	C	NM_052917		155099312	155099312	+1	no_errors	ENST00000409237	ensembl	human	known	69_37n	nonsense	59	22.78	18	SNP	1.000	T
GALNT13	114805	genome.wustl.edu	37	2	155099346	155099347	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:155099346_155099347insT	ENST00000392825.3	+	6	1181_1182	c.614_615insT	c.(613-618)acttttfs	p.TF205fs	GALNT13_ENST00000409237.1_Frame_Shift_Ins_p.TF205fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	205	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGGTCATAACTTTTCTTGATG	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.618dupT	2.37:g.155099350_155099350dupT	ENSP00000376570:p.Thr205fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Frame_Shift_Ins	INS	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L207fs	ENST00000392825.3	37	c.614_615	CCDS2199.1	2																																																																																			GALNT13	-	pfam_Glyco_trans_2	ENSG00000144278		0.446	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	162	0.00	0	-	NM_052917		155099346	155099347	+1	no_errors	ENST00000409237	ensembl	human	known	69_37n	frame_shift_ins	81	22.86	24	INS	1.000:1.000	T
GALNT8	26290	genome.wustl.edu	37	12	4855364	4855364	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:4855364C>T	ENST00000252318.2	+	6	1450	c.1113C>T	c.(1111-1113)atC>atT	p.I371I		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	371	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGGGAGAGATCGGGTCTCTGG	0.507																																					Colon(108;631 1558 7270 20097 39846)	dbGAP											0													165.0	152.0	156.0					12																	4855364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1113C>T	12.37:g.4855364C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I371	ENST00000252318.2	37	c.1113	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.507	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	1147	0.00	0	C	NM_017417		4855364	4855364	+1	no_errors	ENST00000252318	ensembl	human	known	69_37n	silent	739	25.00	247	SNP	0.133	T
GALNT9	50614	genome.wustl.edu	37	12	132837566	132837566	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:132837566G>A	ENST00000328957.8	-	4	728	c.729C>T	c.(727-729)ttC>ttT	p.F243F	GALNT9_ENST00000535208.1_5'UTR	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	243	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGGCATCAAAGAAGCCGACGA	0.672																																					Colon(186;2147 2752 13553 41466)	dbGAP											0													24.0	30.0	29.0					12																	132837566		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.729C>T	12.37:g.132837566G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F243	ENST00000328957.8	37	c.729		12																																																																																			GALNT9	-	pfam_Glyco_trans_2	ENSG00000182870		0.672	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	42	0.00	0	G	NM_001122636		132837566	132837566	-1	no_errors	ENST00000328957	ensembl	human	known	69_37n	silent	13	38.10	8	SNP	1.000	A
GALNT15	117248	genome.wustl.edu	37	3	16269006	16269006	+	Nonstop_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:16269006G>T	ENST00000339732.5	+	10	2422	c.1919G>T	c.(1918-1920)tGa>tTa	p.*640L	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	0					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGAACGATGAATGTCAATG	0.418																																						dbGAP											0													110.0	107.0	108.0					3																	16269006		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1919G>T	3.37:g.16269006G>T	ENSP00000344260:p.*640Leuext*39	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Nonstop_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.*640L	ENST00000339732.5	37	c.1919	CCDS33711.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.984|6.984	0.551668|0.551668	0.13374|0.13374	.|.	.|.	ENSG00000131386|ENSG00000131386	ENST00000543679|ENST00000339732	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	15.0277|15.0277	0.71682|0.71682	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	170|640	.|.	ENSP00000445852:E170X|.	E|X	+|+	1|2	0|2	GALNTL2|GALNTL2	16244010|16244010	1.000000|1.000000	0.71417|0.71417	0.551000|0.551000	0.28230|0.28230	0.040000|0.040000	0.13550|0.13550	3.632000|3.632000	0.54287|0.54287	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GAA|TGA	GALNTL2	-	NULL	ENSG00000131386		0.418	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL2	HGNC	protein_coding	OTTHUMT00000346483.2	550	0.00	0	G	NM_054110		16269006	16269006	+1	no_errors	ENST00000339732	ensembl	human	known	69_37n	nonstop	375	29.72	159	SNP	0.882	T
GAN	8139	genome.wustl.edu	37	16	81391485	81391485	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:81391485G>A	ENST00000568107.2	+	5	1084	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	308					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GCTTTGGATCGAACTGGCCCC	0.458																																					GBM(106;1239 1507 7582 9741 33976)	dbGAP											0													164.0	138.0	147.0					16																	81391485		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.922G>A	16.37:g.81391485G>A	ENSP00000476795:p.Glu308Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E308K	ENST00000568107.2	37	c.922	CCDS10935.1	16	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103880	0.76983	.	.	ENSG00000127688	ENST00000248272	T	0.64991	-0.13	5.94	5.94	0.96194	Galactose oxidase, beta-propeller (1);	0.202092	0.51477	D	0.000086	T	0.41880	0.1178	N	0.14661	0.345	0.58432	D	0.999994	P	0.45986	0.87	B	0.29353	0.101	T	0.41142	-0.9525	10	0.25106	T	0.35	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	308	Q9H2C0	GAN_HUMAN	K	308	ENSP00000248272:E308K	ENSP00000248272:E308K	E	+	1	0	GAN	79948986	1.000000	0.71417	0.787000	0.31911	0.956000	0.61745	7.683000	0.84093	2.812000	0.96745	0.557000	0.71058	GAA	GAN	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000127688		0.458	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	323	0.00	0	G			81391485	81391485	+1	no_errors	ENST00000248272	ensembl	human	known	69_37n	missense	101	37.27	60	SNP	1.000	A
GAP43	2596	genome.wustl.edu	37	3	115395257	115395257	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:115395257C>T	ENST00000305124.6	+	2	794	c.428C>T	c.(427-429)gCc>gTc	p.A143V	GAP43_ENST00000393780.3_Missense_Mutation_p.A179V	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	143					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACAGAAAGTGCCACTAAAGCT	0.597																																						dbGAP											0													38.0	43.0	41.0					3																	115395257		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.428C>T	3.37:g.115395257C>T	ENSP00000305010:p.Ala143Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS	p.A143V	ENST00000305124.6	37	c.428	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853125	0.91355	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.54071	0.59;0.59	5.07	5.07	0.68467	Neuromodulin (GAP-43), C-terminal (1);	0.107265	0.64402	D	0.000004	T	0.69655	0.3135	M	0.61703	1.905	0.50632	D	0.999887	D;D	0.61080	0.989;0.989	D;P	0.64595	0.927;0.869	T	0.71994	-0.4424	10	0.66056	D	0.02	-9.1486	18.6341	0.91371	0.0:1.0:0.0:0.0	.	179;143	A8K0Y4;P17677	.;NEUM_HUMAN	V	143;179	ENSP00000305010:A143V;ENSP00000377372:A179V	ENSP00000305010:A143V	A	+	2	0	GAP43	116877947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.777000	0.62361	2.628000	0.89032	0.655000	0.94253	GCC	GAP43	-	pfam_Neuromodulin_C	ENSG00000172020		0.597	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	89	0.00	0	C	NM_002045		115395257	115395257	+1	no_errors	ENST00000305124	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	T
GAPT	202309	genome.wustl.edu	37	5	57790634	57790634	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:57790634G>A	ENST00000396776.2	+	3	733	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GAPT_ENST00000318469.2_Missense_Mutation_p.D91N	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	91					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						TAACACACACGACAACTATGA	0.428																																						dbGAP											0													71.0	69.0	70.0					5																	57790634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.271G>A	5.37:g.57790634G>A	ENSP00000379997:p.Asp91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GF_rcpt-bound_2-bd_adaptor	p.D91N	ENST00000396776.2	37	c.271	CCDS3975.1	5	.	.	.	.	.	.	.	.	.	.	G	3.521	-0.097771	0.07010	.	.	ENSG00000175857	ENST00000396776;ENST00000318469	T;T	0.51325	0.71;0.71	5.05	-0.0878	0.13676	.	1.635900	0.03259	N	0.182968	T	0.34629	0.0904	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12502	-1.0545	10	0.25106	T	0.35	-5.2717	6.0158	0.19603	0.2636:0.1419:0.5945:0.0	.	91	Q8N292	GAPT_HUMAN	N	91	ENSP00000379997:D91N;ENSP00000323075:D91N	ENSP00000323075:D91N	D	+	1	0	GAPT	57826391	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.322000	0.19576	0.113000	0.18004	-0.940000	0.02684	GAC	GAPT	-	pfam_GF_rcpt-bound_2-bd_adaptor	ENSG00000175857		0.428	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPT	HGNC	protein_coding	OTTHUMT00000253963.1	227	0.00	0	G	NM_152687		57790634	57790634	+1	no_errors	ENST00000318469	ensembl	human	known	69_37n	missense	160	12.50	23	SNP	0.000	A
GAPVD1	26130	genome.wustl.edu	37	9	128064373	128064373	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:128064373C>A	ENST00000495955.1	+	5	587	c.297C>A	c.(295-297)ttC>ttA	p.F99L	GAPVD1_ENST00000394104.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000394084.1_Missense_Mutation_p.F99L|GAPVD1_ENST00000470056.1_Missense_Mutation_p.F99L|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394083.2_Missense_Mutation_p.F99L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.F99L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.F99L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.F99L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	99					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ATGGAGAATTCTTGAGTCGAT	0.403																																						dbGAP											0													158.0	159.0	159.0					9																	128064373		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.297C>A	9.37:g.128064373C>A	ENSP00000419063:p.Phe99Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.F99L	ENST00000495955.1	37	c.297		9	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368369	0.61513	.	.	ENSG00000165219	ENST00000461379;ENST00000394084;ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.73	5.73	0.89815	Rho GTPase activation protein (1);	0.045499	0.85682	D	0.000000	T	0.57373	0.2049	L	0.31664	0.95	0.58432	D	0.999999	B;B;B;B;B;B	0.19817	0.023;0.039;0.039;0.039;0.004;0.005	B;B;B;B;B;B	0.16722	0.007;0.016;0.016;0.016;0.006;0.006	T	0.51926	-0.8643	10	0.22109	T	0.4	.	12.2445	0.54561	0.0:0.9231:0.0:0.0769	.	99;99;99;99;99;99	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6;B0QZ65	GAPD1_HUMAN;.;.;.;.;.	L	99	ENSP00000377646:F99L;ENSP00000419767:F99L;ENSP00000377665:F99L;ENSP00000377664:F99L;ENSP00000265956:F99L;ENSP00000377645:F99L;ENSP00000419063:F99L;ENSP00000418747:F99L;ENSP00000297933:F99L;ENSP00000309582:F99L	ENSP00000265956:F99L	F	+	3	2	GAPVD1	127104194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.957000	0.49137	2.704000	0.92352	0.655000	0.94253	TTC	GAPVD1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000165219		0.403	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	508	0.00	0	C			128064373	128064373	+1	no_errors	ENST00000394105	ensembl	human	known	69_37n	missense	340	11.23	43	SNP	1.000	A
GAPVD1	26130	genome.wustl.edu	37	9	128094908	128094908	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:128094908G>A	ENST00000495955.1	+	15	2718	c.2428G>A	c.(2428-2430)Ggt>Agt	p.G810S	GAPVD1_ENST00000394104.2_Splice_Site_p.G810S|GAPVD1_ENST00000394105.2_Splice_Site_p.D810N|GAPVD1_ENST00000470056.1_Splice_Site_p.G810S|GAPVD1_ENST00000394083.2_Splice_Site_p.G789S|GAPVD1_ENST00000265956.4_Splice_Site_p.G810R|GAPVD1_ENST00000312123.9_Splice_Site_p.G789S|GAPVD1_ENST00000297933.6_Splice_Site_p.G810S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	810					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AATAACTCACGGTAAGAGGGG	0.443																																						dbGAP											0													82.0	82.0	82.0					9																	128094908		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2428+1G>A	9.37:g.128094908G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.D810N	ENST00000495955.1	37	c.2428		9	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	G|G|G|G	17.06|17.06|17.06|17.06	3.292354|3.292354|3.292354|3.292354	0.59976|0.59976|0.59976|0.59976	.|.|.|.	.|.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000394105|ENST00000265956|ENST00000470056;ENST00000394104;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.|.|.	.|.|.|.	.|.|.|.	5.7|5.7|5.7|5.7	5.7|5.7|5.7|5.7	0.88788|0.88788|0.88788|0.88788	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	T|T|T|T	0.75087|0.75087|0.75087|0.75087	0.3802|0.3802|0.3802|0.3802	.|.|.|.	.|.|.|.	.|.|.|.	0.80722|0.80722|0.80722|0.80722	D|D|D|D	1|1|1|1	B|P|P;P;P;P|.	0.06786|0.47409|0.39181|.	0.001|0.895|0.663;0.549;0.549;0.549|.	B|P|B;B;B;B|.	0.01281|0.49502|0.31751|.	0.0|0.613|0.051;0.135;0.135;0.135|.	T|T|T|T	0.72743|0.72743|0.72743|0.72743	-0.4201|-0.4201|-0.4201|-0.4201	7|7|7|4	0.20519|0.87932|0.11182|.	T|D|T|.	0.43|0|0.66|.	.|.|.|.	18.8218|18.8218|18.8218|18.8218	0.92100|0.92100|0.92100|0.92100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.|.	810|810|810;810;789;810|.	Q14C86-6|Q14C86-5|Q14C86;Q14C86-3;Q14C86-4;Q14C86-2|.	.|.|GAPD1_HUMAN;.;.;.|.	N|R|S|Q	810|810|810;810;789;810;810;810;789|646	.|.|.|.	ENSP00000377665:D810N|ENSP00000265956:G810R|ENSP00000297933:G810S|.	D|G|G|R	+|+|+|+	1|1|1|2	0|0|0|0	GAPVD1|GAPVD1|GAPVD1|GAPVD1	127134729|127134729|127134729|127134729	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.588000|0.588000|0.588000|0.588000	0.36517|0.36517|0.36517|0.36517	8.029000|8.029000|8.029000|8.029000	0.88807|0.88807|0.88807|0.88807	2.701000|2.701000|2.701000|2.701000	0.92244|0.92244|0.92244|0.92244	0.561000|0.561000|0.561000|0.561000	0.74099|0.74099|0.74099|0.74099	GAT|GGG|GGT|CGG	GAPVD1	-	NULL	ENSG00000165219		0.443	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	140	0.00	0	G		Missense_Mutation	128094908	128094908	+1	no_errors	ENST00000394105	ensembl	human	known	69_37n	missense	122	13.99	20	SNP	1.000	A
GARNL3	84253	genome.wustl.edu	37	9	130075751	130075751	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:130075751G>T	ENST00000373387.4	+	4	703	c.351G>T	c.(349-351)gaG>gaT	p.E117D	GARNL3_ENST00000314904.5_Missense_Mutation_p.E117D|GARNL3_ENST00000435213.2_Missense_Mutation_p.E95D	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	117					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACGATGCCGAGAAGAGCCCTT	0.448																																						dbGAP											0													202.0	174.0	183.0					9																	130075751		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.351G>T	9.37:g.130075751G>T	ENSP00000362485:p.Glu117Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.E117D	ENST00000373387.4	37	c.351	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886539	0.51908	.	.	ENSG00000136895	ENST00000439286;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	5.76	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	L	0.33710	1.025	0.48288	D	0.99962	B;P	0.34662	0.087;0.462	B;B	0.25987	0.014;0.065	T	0.81409	-0.0946	9	.	.	.	.	7.0331	0.24979	0.2556:0.0:0.7444:0.0	.	117;95	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	D	140;140;95;95;117;117	ENSP00000400579:E140D;ENSP00000411329:E95D;ENSP00000396205:E95D;ENSP00000313970:E117D;ENSP00000362485:E117D	.	E	+	3	2	GARNL3	129115572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.523000	0.53488	1.569000	0.49696	0.655000	0.94253	GAG	GARNL3	-	NULL	ENSG00000136895		0.448	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	339	0.29	1	G	NM_032293		130075751	130075751	+1	no_errors	ENST00000373387	ensembl	human	known	69_37n	missense	219	28.80	89	SNP	1.000	T
GARS	2617	genome.wustl.edu	37	7	30661111	30661111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:30661111G>T	ENST00000389266.3	+	11	1703	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	488					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	ACCTCTGAAAGAACCCATATC	0.423																																						dbGAP											0													164.0	161.0	162.0					7																	30661111		1880	4116	5996	-	-	-	SO:0001587	stop_gained	0			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1462G>T	7.37:g.30661111G>T	ENSP00000373918:p.Glu488*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQA2|B4DIA0|Q969Y1	Nonsense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,prints_tRNA-synt_gly,tigrfam_tRNA-synt_gly	p.E488*	ENST00000389266.3	37	c.1462	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	G	41	8.668037	0.98908	.	.	ENSG00000106105	ENST00000389266	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-27.1484	17.3561	0.87336	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000373918:E488X	E	+	1	0	GARS	30627636	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.823000	0.99369	2.775000	0.95449	0.650000	0.86243	GAA	GARS	-	pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly	ENSG00000106105		0.423	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1	208	0.00	0	G	NM_002047		30661111	30661111	+1	no_errors	ENST00000389266	ensembl	human	known	69_37n	nonsense	145	12.12	20	SNP	1.000	T
GART	2618	genome.wustl.edu	37	21	34877898	34877898	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:34877898G>T	ENST00000381831.3	-	20	2958	c.2695C>A	c.(2695-2697)Ctt>Att	p.L899I	GART_ENST00000381839.3_Missense_Mutation_p.L899I|GART_ENST00000543717.1_Missense_Mutation_p.L451I|GART_ENST00000381815.4_Missense_Mutation_p.L899I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	899	10-formyltetrahydrofolate binding.|GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GGGCCAGAAAGAATTCTCATG	0.373																																						dbGAP											0													87.0	85.0	85.0					21																	34877898		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2695C>A	21.37:g.34877898G>T	ENSP00000371253:p.Leu899Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L899I	ENST00000381831.3	37	c.2695	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563355	0.65651	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.59	3.49	0.39957	Formyl transferase, N-terminal (3);	0.000000	0.64402	D	0.000001	T	0.80959	0.4724	L	0.47016	1.485	0.58432	D	0.999998	D	0.54207	0.965	D	0.72982	0.979	T	0.79351	-0.1839	10	0.51188	T	0.08	-17.1482	6.3917	0.21591	0.5242:0.0:0.4758:0.0	.	899	P22102	PUR2_HUMAN	I	163;899;899;899;451	ENSP00000371236:L899I;ENSP00000371253:L899I;ENSP00000371261:L899I;ENSP00000443579:L451I	ENSP00000371236:L899I	L	-	1	0	GART	33799768	1.000000	0.71417	0.912000	0.35992	0.824000	0.46624	3.947000	0.56652	1.282000	0.44496	0.558000	0.71614	CTT	GART	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans	ENSG00000159131		0.373	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	188	0.00	0	G	NM_000819		34877898	34877898	-1	no_errors	ENST00000381815	ensembl	human	known	69_37n	missense	223	10.80	27	SNP	0.988	T
GAS2	2620	genome.wustl.edu	37	11	22833429	22833429	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:22833429G>A	ENST00000454584.2	+	8	1114	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	GAS2_ENST00000433790.1_Missense_Mutation_p.R270Q|GAS2_ENST00000278187.3_Missense_Mutation_p.R270Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	270	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GACCCCTGCCGAATGCTGCAG	0.463																																						dbGAP											0													123.0	115.0	117.0					11																	22833429		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.809G>A	11.37:g.22833429G>A	ENSP00000401145:p.Arg270Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R270Q	ENST00000454584.2	37	c.809	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.200565	0.94997	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.59224	0.28;0.28;0.28	6.07	6.07	0.98685	Growth-arrest-specific protein 2 domain (5);	0.072043	0.64402	D	0.000003	T	0.74981	0.3788	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71672	-0.4522	10	0.46703	T	0.11	-9.3995	20.6439	0.99570	0.0:0.0:1.0:0.0	.	270	O43903	GAS2_HUMAN	Q	270	ENSP00000401145:R270Q;ENSP00000278187:R270Q;ENSP00000396708:R270Q	ENSP00000278187:R270Q	R	+	2	0	GAS2	22790005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CGA	GAS2	-	pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom	ENSG00000148935		0.463	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	456	0.00	0	G	NM_177553		22833429	22833429	+1	no_errors	ENST00000278187	ensembl	human	known	69_37n	missense	355	10.75	43	SNP	1.000	A
GAS2	2620	genome.wustl.edu	37	11	22833497	22833497	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:22833497G>T	ENST00000454584.2	+	8	1182	c.877G>T	c.(877-879)Gac>Tac	p.D293Y	GAS2_ENST00000433790.1_Missense_Mutation_p.D293Y|GAS2_ENST00000278187.3_Missense_Mutation_p.D293Y	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	293					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AACTCTAAAGGACATGAATCC	0.448																																						dbGAP											0													102.0	91.0	95.0					11																	22833497		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.877G>T	11.37:g.22833497G>T	ENSP00000401145:p.Asp293Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.D293Y	ENST00000454584.2	37	c.877	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106433	0.77096	.	.	ENSG00000148935	ENST00000454584;ENST00000278187;ENST00000433790	T;T;T	0.48522	0.81;0.81;0.81	6.0	6.0	0.97389	.	0.043376	0.85682	D	0.000000	T	0.38665	0.1049	N	0.19112	0.55	0.80722	D	1	D	0.53151	0.958	B	0.40864	0.342	T	0.36792	-0.9733	10	0.62326	D	0.03	-17.7742	20.4949	0.99206	0.0:0.0:1.0:0.0	.	293	O43903	GAS2_HUMAN	Y	293	ENSP00000401145:D293Y;ENSP00000278187:D293Y;ENSP00000396708:D293Y	ENSP00000278187:D293Y	D	+	1	0	GAS2	22790073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.848000	0.98002	0.655000	0.94253	GAC	GAS2	-	NULL	ENSG00000148935		0.448	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	311	0.32	1	G	NM_177553		22833497	22833497	+1	no_errors	ENST00000278187	ensembl	human	known	69_37n	missense	215	12.24	30	SNP	1.000	T
GAS2L3	283431	genome.wustl.edu	37	12	101017503	101017503	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:101017503C>T	ENST00000539410.1	+	9	1306	c.920C>T	c.(919-921)tCg>tTg	p.S307L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S307L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S307L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.S203L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	307					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GTACCTGATTCGCCTGCCAGA	0.378																																						dbGAP											0													50.0	53.0	52.0					12																	101017503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.920C>T	12.37:g.101017503C>T	ENSP00000439672:p.Ser307Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN2	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S307L	ENST00000539410.1	37	c.920	CCDS9079.1	12	.	.	.	.	.	.	.	.	.	.	C	4.893	0.166019	0.09339	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.27720	1.68;1.68;1.65;1.68	5.51	1.71	0.24356	.	0.466272	0.23620	N	0.046251	T	0.25568	0.0622	M	0.65498	2.005	0.09310	N	1	B	0.29671	0.254	B	0.19946	0.027	T	0.16867	-1.0388	10	0.48119	T	0.1	-1.4492	5.6086	0.17392	0.12:0.5489:0.0:0.331	.	307	Q86XJ1	GA2L3_HUMAN	L	307;307;203;307	ENSP00000266754:S307L;ENSP00000448955:S307L;ENSP00000442406:S203L;ENSP00000439672:S307L	ENSP00000266754:S307L	S	+	2	0	GAS2L3	99541634	0.251000	0.23961	0.001000	0.08648	0.019000	0.09904	0.695000	0.25527	0.050000	0.15949	-0.793000	0.03317	TCG	GAS2L3	-	NULL	ENSG00000139354		0.378	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	91	0.00	0	C	NM_174942		101017503	101017503	+1	no_errors	ENST00000266754	ensembl	human	known	69_37n	missense	58	21.33	16	SNP	0.000	T
GAS8	2622	genome.wustl.edu	37	16	90106801	90106801	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:90106801C>T	ENST00000268699.4	+	9	1227	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R344C|URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	369					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CGTGCTAGAACGCAAGCTGCA	0.607																																						dbGAP											0													74.0	59.0	64.0					16																	90106801		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1105C>T	16.37:g.90106801C>T	ENSP00000268699:p.Arg369Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	NULL	p.R369C	ENST00000268699.4	37	c.1105	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560511	0.27827	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.47528	0.84;0.84	5.79	4.83	0.62350	.	0.164825	0.56097	D	0.000028	T	0.43077	0.1231	L	0.55103	1.725	0.80722	D	1	B;B	0.31227	0.314;0.173	B;B	0.25614	0.058;0.062	T	0.28933	-1.0028	9	.	.	.	-24.8251	16.2135	0.82186	0.1342:0.8658:0.0:0.0	.	340;369	B7Z1X3;O95995	.;GAS8_HUMAN	C	344;369;340	ENSP00000440977:R344C;ENSP00000268699:R369C	.	R	+	1	0	GAS8	88634302	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	2.095000	0.41729	1.444000	0.47605	-0.188000	0.12872	CGC	GAS8	-	NULL	ENSG00000141013		0.607	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS8	HGNC	protein_coding	OTTHUMT00000272877.2	66	0.00	0	C			90106801	90106801	+1	no_errors	ENST00000268699	ensembl	human	known	69_37n	missense	22	39.47	15	SNP	1.000	T
GBP1	2633	genome.wustl.edu	37	1	89519115	89519115	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:89519115C>A	ENST00000370473.4	-	11	1921	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	568					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ATTCTGCTTTCTTTTTGAAAT	0.408																																						dbGAP											0													225.0	215.0	218.0					1																	89519115		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1702G>T	1.37:g.89519115C>A	ENSP00000359504:p.Glu568*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT26|Q5T8M1	Nonsense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.E568*	ENST00000370473.4	37	c.1702	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154833	0.78114	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	.	.	.	3.57	2.55	0.30701	.	0.266143	0.28730	N	0.014326	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	11.1038	0.48190	0.0:0.8107:0.1893:0.0	.	.	.	.	X	568;531	.	ENSP00000359504:E568X	E	-	1	0	GBP1	89291703	0.721000	0.28007	0.011000	0.14972	0.011000	0.07611	1.717000	0.37991	1.701000	0.51217	0.313000	0.20887	GAA	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.408	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	489	0.00	0	C	NM_002053		89519115	89519115	-1	no_errors	ENST00000370473	ensembl	human	known	69_37n	nonsense	263	14.33	44	SNP	0.021	A
GBP3	2635	genome.wustl.edu	37	1	89479028	89479028	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:89479028G>A	ENST00000370481.4	-	6	928	c.708C>T	c.(706-708)ttC>ttT	p.F236F	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	268	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TGGGCAGATCGAAGACAAAAC	0.413																																						dbGAP											0													123.0	129.0	127.0					1																	89479028		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.708C>T	1.37:g.89479028G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.F236	ENST00000370481.4	37	c.708	CCDS717.2	1																																																																																			GBP3	-	pfam_Guanylate-bd_N	ENSG00000117226		0.413	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3	236	0.00	0	G	NM_018284		89479028	89479028	-1	no_errors	ENST00000370481	ensembl	human	known	69_37n	silent	117	14.60	20	SNP	0.222	A
GBP5	115362	genome.wustl.edu	37	1	89730585	89730585	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:89730585C>T	ENST00000370459.3	-	7	1060	c.933G>A	c.(931-933)gaG>gaA	p.E311E	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Silent_p.E311E			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	311						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGACTGCATTCTCTATGCAAG	0.483																																						dbGAP											0													95.0	83.0	87.0					1																	89730585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.933G>A	1.37:g.89730585C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCE1|Q86TM5	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.E311	ENST00000370459.3	37	c.933	CCDS722.1	1																																																																																			GBP5	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000154451		0.483	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	127	0.00	0	C	NM_052942		89730585	89730585	-1	no_errors	ENST00000343435	ensembl	human	known	69_37n	silent	75	16.67	15	SNP	0.997	T
GBP1P1	400759	genome.wustl.edu	37	1	89890053	89890053	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:89890053C>A	ENST00000513638.1	+	0	794					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		TTTCTGTTTTCTCTCCATTCT	0.483																																						dbGAP											0																																										-	-	-			0					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89890053C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000513638.1	37	NULL		1																																																																																			GBP1P1	-	-	ENSG00000225492		0.483	GBP1P1-002	KNOWN	basic	processed_transcript	GBP1P1	HGNC	pseudogene	OTTHUMT00000360073.1	71	0.00	0	C	NR_003133		89890053	89890053	+1	no_errors	ENST00000513638	ensembl	human	known	69_37n	rna	42	14.29	7	SNP	0.067	A
GCC2	9648	genome.wustl.edu	37	2	109087262	109087262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:109087262G>T	ENST00000309863.6	+	6	2191	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	493					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTACAAACAGAACTGGGGGA	0.388																																						dbGAP											0													50.0	53.0	52.0					2																	109087262		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1477G>T	2.37:g.109087262G>T	ENSP00000307939:p.Glu493*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E493*	ENST00000309863.6	37	c.1477	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.530902	0.96446	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.4	5.4	0.78164	.	0.062950	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	.	.	.	X	493;456;238	.	ENSP00000307939:E493X	E	+	1	0	GCC2	108453694	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	7.962000	0.87912	2.684000	0.91462	0.650000	0.86243	GAA	GCC2	-	NULL	ENSG00000135968		0.388	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	26	0.00	0	G	NM_014635		109087262	109087262	+1	no_errors	ENST00000309863	ensembl	human	known	69_37n	nonsense	24	29.41	10	SNP	0.999	T
GCFC2	6936	genome.wustl.edu	37	2	75928424	75928424	+	Intron	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:75928424A>C	ENST00000321027.3	-	4	753				GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										CTAGCGGAAAAAAAGCTCACA	0.348																																						dbGAP											0													126.0	105.0	112.0					2																	75928424		2203	4296	6499	-	-	-	SO:0001627	intron_variant	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.620-11T>G	2.37:g.75928424A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4UHQ8|O95032|Q53TY0|Q6P2F2	RNA	SNP	-	NULL	ENST00000321027.3	37	NULL	CCDS1961.1	2																																																																																			GCFC2	-	-	ENSG00000005436		0.348	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	326	0.00	0	A	NM_003203		75928424	75928424	-1	no_errors	ENST00000470197	ensembl	human	known	69_37n	rna	262	36.25	149	SNP	0.008	C
GCC2	9648	genome.wustl.edu	37	2	109109117	109109117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:109109117C>T	ENST00000309863.6	+	19	5032	c.4318C>T	c.(4318-4320)Cga>Tga	p.R1440*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1440					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CGAGGTCCTTCGAAATAGCTT	0.443																																						dbGAP											0													116.0	100.0	105.0					2																	109109117		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4318C>T	2.37:g.109109117C>T	ENSP00000307939:p.Arg1440*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.R1440*	ENST00000309863.6	37	c.4318	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.251441	0.99115	.	.	ENSG00000135968	ENST00000309863	.	.	.	5.52	4.63	0.57726	.	0.224665	0.47852	D	0.000214	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	12.3433	0.55105	0.134:0.7372:0.1288:0.0	.	.	.	.	X	1440	.	ENSP00000307939:R1440X	R	+	1	2	GCC2	108475549	1.000000	0.71417	0.036000	0.18154	0.171000	0.22731	1.538000	0.36094	1.453000	0.47775	0.655000	0.94253	CGA	GCC2	-	NULL	ENSG00000135968		0.443	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	227	0.00	0	C	NM_014635		109109117	109109117	+1	no_errors	ENST00000309863	ensembl	human	known	69_37n	nonsense	124	20.51	32	SNP	0.987	T
GCH1	2643	genome.wustl.edu	37	14	55309825	55309825	+	3'UTR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:55309825T>G	ENST00000491895.2	-	0	1851				GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Intron	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1						7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						GAAAAATATCTTATAAGATTA	0.358																																					Pancreas(198;1245 2204 4807 21567 38372)	dbGAP											0													32.0	29.0	30.0					14																	55309825		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.*910A>C	14.37:g.55309825T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHY7|Q9Y4I8	RNA	SNP	-	NULL	ENST00000491895.2	37	NULL	CCDS9720.1	14																																																																																			GCH1	-	-	ENSG00000131979		0.358	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	146	0.00	0	T			55309825	55309825	-1	no_errors	ENST00000254299	ensembl	human	known	69_37n	rna	66	38.32	41	SNP	0.000	G
GCM1	8521	genome.wustl.edu	37	6	52993048	52993048	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:52993048G>T	ENST00000259803.7	-	6	1478	c.1267C>A	c.(1267-1269)Cac>Aac	p.H423N	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	423					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.H423N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGTTGCAGTGATCCAAACCC	0.458																																						dbGAP											1	Substitution - Missense(1)	lung(1)											221.0	222.0	222.0					6																	52993048		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1267C>A	6.37:g.52993048G>T	ENSP00000259803:p.His423Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.H423N	ENST00000259803.7	37	c.1267	CCDS4950.1	6	.	.	.	.	.	.	.	.	.	.	G	7.861	0.726017	0.15439	.	.	ENSG00000137270	ENST00000259803	T	0.74106	-0.81	5.82	4.02	0.46733	.	0.172920	0.41294	D	0.000918	T	0.40570	0.1122	L	0.34521	1.04	0.25402	N	0.988434	P	0.38335	0.627	B	0.34722	0.188	T	0.33214	-0.9877	10	0.66056	D	0.02	-15.3325	5.1125	0.14817	0.2075:0.1687:0.6239:0.0	.	423	Q9NP62	GCM1_HUMAN	N	423	ENSP00000259803:H423N	ENSP00000259803:H423N	H	-	1	0	GCM1	53101007	1.000000	0.71417	0.993000	0.49108	0.055000	0.15305	2.269000	0.43346	0.795000	0.33922	-0.136000	0.14681	CAC	GCM1	-	NULL	ENSG00000137270		0.458	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM1	HGNC	protein_coding	OTTHUMT00000040953.1	97	0.00	0	G			52993048	52993048	-1	no_errors	ENST00000259803	ensembl	human	known	69_37n	missense	100	12.28	14	SNP	0.787	T
GCM1	8521	genome.wustl.edu	37	6	52993142	52993142	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:52993142G>A	ENST00000259803.7	-	6	1384	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	391					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AGGCGTAGGTGAAGAGAAAGG	0.443																																						dbGAP											0													269.0	268.0	268.0					6																	52993142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1173C>T	6.37:g.52993142G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.F391	ENST00000259803.7	37	c.1173	CCDS4950.1	6																																																																																			GCM1	-	NULL	ENSG00000137270		0.443	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM1	HGNC	protein_coding	OTTHUMT00000040953.1	210	0.00	0	G			52993142	52993142	-1	no_errors	ENST00000259803	ensembl	human	known	69_37n	silent	157	26.85	58	SNP	0.001	A
GCSAM	257144	genome.wustl.edu	37	3	111851957	111851957	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:111851957G>T	ENST00000308910.4	-	1	195	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	GCSAM_ENST00000484193.1_Missense_Mutation_p.S4Y|RP11-757F18.5_ENST00000563632.1_RNA	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	4					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										TCTCAGCAGAGAATTTCCCAT	0.488																																						dbGAP											0													185.0	176.0	179.0					3																	111851957		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.11C>A	3.37:g.111851957G>T	ENSP00000309487:p.Ser4Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD17|C9JUG6	Missense_Mutation	SNP	NULL	p.S4Y	ENST00000308910.4	37	c.11	CCDS2964.1	3	.	.	.	.	.	.	.	.	.	.	G	2.395	-0.338839	0.05243	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387	.	.	.	4.37	-3.76	0.04359	.	1.772790	0.02933	N	0.139428	T	0.16981	0.0408	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15752	-1.0426	9	0.02654	T	1	-0.0301	1.1896	0.01862	0.1805:0.3331:0.1808:0.3056	.	4	Q8N6F7	GCET2_HUMAN	Y	4	.	ENSP00000309487:S4Y	S	-	2	0	GCET2	113334647	0.007000	0.16637	0.049000	0.19019	0.823000	0.46562	-1.214000	0.02988	-0.843000	0.04189	-0.156000	0.13503	TCT	GCSAM	-	NULL	ENSG00000174500		0.488	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GCSAM	HGNC	protein_coding	OTTHUMT00000353967.2	380	0.26	1	G	NM_152785		111851957	111851957	-1	no_errors	ENST00000308910	ensembl	human	known	69_37n	missense	265	28.95	108	SNP	0.078	T
GDAP2	54834	genome.wustl.edu	37	1	118454616	118454616	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:118454616G>A	ENST00000369443.5	-	5	808	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	GDAP2_ENST00000369442.3_Splice_Site_p.R187C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	187	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)		p.R187C(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TATTACTTACGAAGTGCTATG	0.403																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											100.0	91.0	94.0					1																	118454616		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.559+1C>T	1.37:g.118454616G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DZ0	Missense_Mutation	SNP	pfam_A1pp,superfamily_CRAL-TRIO_dom,smart_A1pp,smart_CRAL-TRIO_dom,pfscan_A1pp	p.R187C	ENST00000369443.5	37	c.559	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984551	0.74474	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.23950	1.88;1.88	5.22	5.22	0.72569	Appr-1-p processing (1);	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.67795	-0.5578	9	.	.	.	-9.0828	19.0355	0.92976	0.0:0.0:1.0:0.0	.	187;187	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	C	187	ENSP00000358451:R187C;ENSP00000358450:R187C	.	R	-	1	0	GDAP2	118256139	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	5.344000	0.65981	2.725000	0.93324	0.644000	0.83932	CGC	GDAP2	-	pfscan_A1pp	ENSG00000196505		0.403	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	138	0.72	1	G	NM_017686	Missense_Mutation	118454616	118454616	-1	no_errors	ENST00000369443	ensembl	human	known	69_37n	missense	132	13.16	20	SNP	1.000	A
GDF10	2662	genome.wustl.edu	37	10	48428695	48428695	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:48428695C>A	ENST00000224605.2	-	2	1456	c.1191G>T	c.(1189-1191)ccG>ccT	p.P397P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	397					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CAAAAGATTTCGGTGAGATTA	0.542																																						dbGAP											0													88.0	86.0	87.0					10																	48428695		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1191G>T	10.37:g.48428695C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSQ8|Q9UCX6	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.P397	ENST00000224605.2	37	c.1191	CCDS7220.1	10																																																																																			GDF10	-	pfam_TGF-b_C,smart_TGF-b_C,pirsf_BMP3/GDF10	ENSG00000107623		0.542	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	HGNC	protein_coding	OTTHUMT00000047884.1	69	0.00	0	C	NM_004962		48428695	48428695	-1	no_errors	ENST00000224605	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	1.000	A
GDF9	2661	genome.wustl.edu	37	5	132199883	132199883	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:132199883G>A	ENST00000378673.2	-	2	1209	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_5'UTR|UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.R115W|UQCRQ_ENST00000378670.3_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	115					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R115W(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAAGAGCCGAACAGTGTTG	0.478																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											132.0	146.0	141.0					5																	132199883		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.343C>T	5.37:g.132199883G>A	ENSP00000367942:p.Arg115Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.R115W	ENST00000378673.2	37	c.343	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863622	0.71949	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.62639	0.01;0.01	5.88	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.87547	2.89	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.84639	0.0694	10	0.87932	D	0	.	13.6979	0.62591	0.0:0.0:0.7189:0.2811	.	115	O60383	GDF9_HUMAN	W	115	ENSP00000367942:R115W;ENSP00000296875:R115W	ENSP00000296875:R115W	R	-	1	2	GDF9	132227782	0.833000	0.29383	0.964000	0.40570	0.789000	0.44602	1.532000	0.36029	1.456000	0.47831	0.655000	0.94253	CGG	GDF9	-	NULL	ENSG00000164404		0.478	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	383	0.00	0	G	NM_005260		132199883	132199883	-1	no_errors	ENST00000296875	ensembl	human	known	69_37n	missense	233	24.84	77	SNP	0.947	A
GDI2	2665	genome.wustl.edu	37	10	5815855	5815855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5815855C>A	ENST00000380191.4	-	7	1059	c.769G>T	c.(769-771)Gaa>Taa	p.E257*	GDI2_ENST00000380132.4_Nonsense_Mutation_p.E261*|GDI2_ENST00000380181.3_Nonsense_Mutation_p.E212*	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	257					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACAATGATTTCTTCAATGGGT	0.289																																						dbGAP											0													98.0	100.0	100.0					10																	5815855		2202	4296	6498	-	-	-	SO:0001587	stop_gained	0			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"""rab GDP-dissociation"""	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.769G>T	10.37:g.5815855C>A	ENSP00000369538:p.Glu257*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43928|Q5SX88|Q9UQM6	Nonsense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.E261*	ENST00000380191.4	37	c.781	CCDS7071.1	10	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988407	0.93106	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181;ENST00000456041	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.4251	17.7624	0.88468	0.0:1.0:0.0:0.0	.	.	.	.	X	257;90;85;261;212;247	.	ENSP00000369475:E261X	E	-	1	0	GDI2	5855861	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.626000	0.83164	2.383000	0.81215	0.462000	0.41574	GAA	GDI2	-	pfam_GDP_dissociation_inhibitor	ENSG00000057608		0.289	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI2	HGNC	protein_coding	OTTHUMT00000046580.1	468	0.00	0	C	NM_001494		5815855	5815855	-1	no_errors	ENST00000380132	ensembl	human	known	69_37n	nonsense	266	11.04	33	SNP	1.000	A
GEMIN6	79833	genome.wustl.edu	37	2	39006139	39006139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:39006139G>T	ENST00000281950.3	+	2	123	c.7G>T	c.(7-9)Gaa>Taa	p.E3*	GEMIN6_ENST00000409011.1_Nonsense_Mutation_p.E3*|GEMIN6_ENST00000409566.1_Nonsense_Mutation_p.E3*	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	3					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				AATCATGAGTGAATGGATGAA	0.418																																						dbGAP											0													104.0	101.0	102.0					2																	39006139		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.7G>T	2.37:g.39006139G>T	ENSP00000281950:p.Glu3*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Nonsense_Mutation	SNP	pfam_Gemin6	p.E3*	ENST00000281950.3	37	c.7	CCDS1799.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.296203	0.95574	.	.	ENSG00000152147	ENST00000409011;ENST00000281950;ENST00000409566	.	.	.	4.94	4.94	0.65067	.	0.311492	0.34802	N	0.003678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-22.1811	12.415	0.55488	0.0815:0.0:0.9185:0.0	.	.	.	.	X	3	.	ENSP00000281950:E3X	E	+	1	0	GEMIN6	38859643	1.000000	0.71417	0.994000	0.49952	0.841000	0.47740	3.950000	0.56676	2.567000	0.86603	0.650000	0.86243	GAA	GEMIN6	-	pfam_Gemin6	ENSG00000152147		0.418	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN6	HGNC	protein_coding	OTTHUMT00000250441.3	156	0.00	0	G			39006139	39006139	+1	no_errors	ENST00000281950	ensembl	human	known	69_37n	nonsense	153	11.56	20	SNP	0.992	T
GFRA2	2675	genome.wustl.edu	37	8	21608276	21608276	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:21608276C>A	ENST00000524240.1	-	4	1268	c.618G>T	c.(616-618)caG>caT	p.Q206H	GFRA2_ENST00000517328.1_Missense_Mutation_p.Q206H|GFRA2_ENST00000400782.4_Missense_Mutation_p.Q101H|GFRA2_ENST00000518077.1_Missense_Mutation_p.Q73H	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	206					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGTCGAAGAACTGGCGCAGGG	0.647																																						dbGAP											0													62.0	74.0	70.0					8																	21608276		2193	4293	6486	-	-	-	SO:0001583	missense	0			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.618G>T	8.37:g.21608276C>A	ENSP00000428518:p.Gln206His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.Q206H	ENST00000524240.1	37	c.618	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760325	0.69763	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.498969	0.22266	N	0.062335	T	0.70771	0.3262	L	0.47716	1.5	0.51482	D	0.999924	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.968;0.993;0.941	T	0.67055	-0.5767	10	0.29301	T	0.29	-22.6609	12.525	0.56081	0.167:0.833:0.0:0.0	.	73;101;206	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	H	206;101;206;73;101;206;198	ENSP00000428518:Q206H;ENSP00000383592:Q101H;ENSP00000429445:Q206H;ENSP00000429206:Q73H;ENSP00000429979:Q101H;ENSP00000428721:Q206H	ENSP00000383592:Q101H	Q	-	3	2	GFRA2	21652556	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.877000	0.56123	2.199000	0.70637	0.313000	0.20887	CAG	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt	ENSG00000168546		0.647	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	61	0.00	0	C	NM_001495		21608276	21608276	-1	no_errors	ENST00000517328	ensembl	human	known	69_37n	missense	43	25.86	15	SNP	1.000	A
GFRAL	389400	genome.wustl.edu	37	6	55198737	55198737	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:55198737A>C	ENST00000340465.2	+	3	397	c.311A>C	c.(310-312)aAa>aCa	p.K104T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	104					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTATCAATAAATCAGGTAAT	0.279																																						dbGAP											0													74.0	79.0	77.0					6																	55198737		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.311A>C	6.37:g.55198737A>C	ENSP00000343636:p.Lys104Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTF6	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.K104T	ENST00000340465.2	37	c.311	CCDS4957.1	6	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822548	0.16678	.	.	ENSG00000187871	ENST00000340465	T	0.32272	1.46	5.13	2.65	0.31530	.	2.245710	0.02191	N	0.061358	T	0.07234	0.0183	L	0.27053	0.805	0.18873	N	0.999983	P	0.36616	0.561	B	0.35470	0.203	T	0.19844	-1.0293	10	0.15499	T	0.54	-7.3552	5.2845	0.15694	0.7283:0.1785:0.0933:0.0	.	104	Q6UXV0	GFRAL_HUMAN	T	104	ENSP00000343636:K104T	ENSP00000343636:K104T	K	+	2	0	GFRAL	55306696	0.982000	0.34865	0.084000	0.20598	0.276000	0.26787	1.756000	0.38390	0.252000	0.21531	-0.290000	0.09829	AAA	GFRAL	-	NULL	ENSG00000187871		0.279	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	HGNC	protein_coding	OTTHUMT00000040995.2	297	0.00	0	A	NM_207410		55198737	55198737	+1	no_errors	ENST00000340465	ensembl	human	known	69_37n	missense	194	13.39	30	SNP	0.440	C
GGT5	2687	genome.wustl.edu	37	22	24622608	24622608	+	Silent	SNP	C	C	T	rs58692741		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:24622608C>T	ENST00000327365.4	-	7	1445	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	GGT5_ENST00000398292.3_Silent_p.P343P|GGT5_ENST00000263112.7_Silent_p.P311P|GGT5_ENST00000418439.2_Silent_p.P266P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	343					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.P343P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCTGGAGCTTCGGGTGGCTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		15626	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											74.0	70.0	71.0					22																	24622608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1029G>A	22.37:g.24622608C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.P343	ENST00000327365.4	37	c.1029	CCDS13825.1	22																																																																																			GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.627	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	180	0.00	0	C	NM_004121		24622608	24622608	-1	no_errors	ENST00000398292	ensembl	human	known	69_37n	silent	86	22.52	25	SNP	0.001	T
GGT7	2686	genome.wustl.edu	37	20	33451191	33451191	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:33451191G>A	ENST00000336431.5	-	2	374	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	110					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGCCGTGACGATGACCGTGA	0.677																																						dbGAP											0													42.0	36.0	38.0					20																	33451191		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.330C>T	20.37:g.33451191G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.I110	ENST00000336431.5	37	c.330	CCDS13242.2	20																																																																																			GGT7	-	NULL	ENSG00000131067		0.677	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	37	0.00	0	G	NM_178026		33451191	33451191	-1	no_errors	ENST00000336431	ensembl	human	novel	69_37n	silent	30	16.67	6	SNP	1.000	A
GHR	2690	genome.wustl.edu	37	5	42718876	42718876	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:42718876C>A	ENST00000230882.4	+	10	1457	c.1267C>A	c.(1267-1269)Ctc>Atc	p.L423I	GHR_ENST00000357703.3_Missense_Mutation_p.L401I|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.L236I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	423					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.L423I(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGAAGCAGATCTCTTATGCCT	0.448																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											85.0	75.0	78.0					5																	42718876		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1267C>A	5.37:g.42718876C>A	ENSP00000230882:p.Leu423Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.L423I	ENST00000230882.4	37	c.1267	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389541	0.42410	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.52295	0.67;0.67;0.67	6.02	5.14	0.70334	.	0.285709	0.34580	N	0.003843	T	0.60457	0.2270	M	0.87758	2.905	0.49687	D	0.999816	B	0.17465	0.022	B	0.32022	0.139	T	0.61831	-0.6982	10	0.48119	T	0.1	-6.8049	16.6496	0.85185	0.131:0.869:0.0:0.0	.	423	P10912	GHR_HUMAN	I	423;401;236	ENSP00000230882:L423I;ENSP00000350335:L401I;ENSP00000442206:L236I	ENSP00000230882:L423I	L	+	1	0	GHR	42754633	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.138000	0.42140	1.532000	0.49169	0.591000	0.81541	CTC	GHR	-	NULL	ENSG00000112964		0.448	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	70	0.00	0	C	NM_000163		42718876	42718876	+1	no_errors	ENST00000230882	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	1.000	A
GHR	2690	genome.wustl.edu	37	5	42719447	42719447	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:42719447C>T	ENST00000230882.4	+	10	2028	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	GHR_ENST00000357703.3_Missense_Mutation_p.A591V|GHR_ENST00000537449.1_Missense_Mutation_p.A426V	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	613					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AATGCGACTGCCTTGCCCTTG	0.483																																						dbGAP											0													107.0	96.0	100.0					5																	42719447		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1838C>T	5.37:g.42719447C>T	ENSP00000230882:p.Ala613Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A613V	ENST00000230882.4	37	c.1838	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873576	0.72180	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.38560	1.13;1.13;1.13	6.08	6.08	0.98989	.	0.323766	0.37669	N	0.001981	T	0.68311	0.2987	M	0.90922	3.16	0.45015	D	0.998037	P	0.38597	0.639	P	0.56216	0.794	T	0.67650	-0.5616	10	0.34782	T	0.22	-9.9479	13.8168	0.63297	0.0:0.9305:0.0:0.0695	.	613	P10912	GHR_HUMAN	V	613;591;426	ENSP00000230882:A613V;ENSP00000350335:A591V;ENSP00000442206:A426V	ENSP00000230882:A613V	A	+	2	0	GHR	42755204	0.889000	0.30405	0.990000	0.47175	0.971000	0.66376	3.007000	0.49536	2.894000	0.99253	0.591000	0.81541	GCC	GHR	-	NULL	ENSG00000112964		0.483	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	108	0.00	0	C	NM_000163		42719447	42719447	+1	no_errors	ENST00000230882	ensembl	human	known	69_37n	missense	49	28.99	20	SNP	0.971	T
GHSR	2693	genome.wustl.edu	37	3	172165840	172165840	+	Missense_Mutation	SNP	C	C	T	rs200796016		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:172165840C>T	ENST00000241256.2	-	1	406	c.364G>A	c.(364-366)Gtc>Atc	p.V122I	GHSR_ENST00000427970.1_Missense_Mutation_p.V122I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	122					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTCTCACTGACGAATTGGAAG	0.612																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	dbGAP											0													63.0	58.0	60.0					3																	172165840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.364G>A	3.37:g.172165840C>T	ENSP00000241256:p.Val122Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_GHS1_rcpt,prints_7TM_GPCR_Rhodpsn	p.V122I	ENST00000241256.2	37	c.364	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	C	9.852	1.194054	0.22037	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.19669	2.13;2.13	5.68	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.117908	0.64402	D	0.000020	T	0.12008	0.0292	N	0.16307	0.4	0.53688	D	0.999979	B;B	0.26672	0.156;0.025	B;B	0.30316	0.114;0.032	T	0.03863	-1.0997	10	0.05436	T	0.98	-41.8111	13.2686	0.60148	0.0:0.8801:0.0:0.1199	.	122;122	Q92847-2;Q92847	.;GHSR_HUMAN	I	122	ENSP00000241256:V122I;ENSP00000395344:V122I	ENSP00000241256:V122I	V	-	1	0	GHSR	173648534	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.341000	0.52151	2.683000	0.91414	0.455000	0.32223	GTC	GHSR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_GHS1_rcpt	ENSG00000121853		0.612	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1	154	0.00	0	C	NM_004122		172165840	172165840	-1	no_errors	ENST00000241256	ensembl	human	known	69_37n	missense	71	32.38	34	SNP	1.000	T
GIF	2694	genome.wustl.edu	37	11	59604795	59604795	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59604795T>G	ENST00000257248.2	-	6	770	c.723A>C	c.(721-723)aaA>aaC	p.K241N	GIF_ENST00000541311.1_Missense_Mutation_p.K216N	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	241					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TCCATTCCTTTTTAGATGGCT	0.443																																					NSCLC(53;1139 1245 16872 38474 42853)	dbGAP											0													165.0	151.0	156.0					11																	59604795		2201	4295	6496	-	-	-	SO:0001583	missense	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.723A>C	11.37:g.59604795T>G	ENSP00000257248:p.Lys241Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN8|B4DVZ1	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.K241N	ENST00000257248.2	37	c.723	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	T	0.490	-0.875973	0.02550	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.34472	1.36;1.36	5.35	-3.46	0.04767	.	0.921802	0.09196	N	0.835362	T	0.07098	0.0180	N	0.00413	-1.525	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30208	-0.9986	10	0.16420	T	0.52	-0.2801	1.1457	0.01775	0.2226:0.1084:0.3177:0.3513	.	241	P27352	IF_HUMAN	N	241;216	ENSP00000257248:K241N;ENSP00000440427:K216N	ENSP00000257248:K241N	K	-	3	2	GIF	59361371	0.000000	0.05858	0.002000	0.10522	0.176000	0.22953	-0.224000	0.09164	-0.447000	0.07138	-0.619000	0.04042	AAA	GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.443	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	351	0.00	0	T	NM_005142		59604795	59604795	-1	no_errors	ENST00000257248	ensembl	human	known	69_37n	missense	206	32.90	101	SNP	0.000	G
GIMAP8	155038	genome.wustl.edu	37	7	150164358	150164358	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:150164358C>A	ENST00000307271.3	+	2	1146	c.572C>A	c.(571-573)tCt>tAt	p.S191Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	191	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAGGTTGAGTCTTTGGTGAAT	0.423																																						dbGAP											0													111.0	102.0	105.0					7																	150164358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.572C>A	7.37:g.150164358C>A	ENSP00000305107:p.Ser191Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AIG1	p.S191Y	ENST00000307271.3	37	c.572	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.075134	0.00379	.	.	ENSG00000171115	ENST00000307271	T	0.62364	0.03	4.16	-8.31	0.01001	AIG1 (1);	3.722830	0.00738	N	0.000989	T	0.43389	0.1245	L	0.38531	1.155	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.22173	-1.0224	10	0.24483	T	0.36	.	2.5196	0.04676	0.499:0.0907:0.128:0.2823	.	191	Q8ND71	GIMA8_HUMAN	Y	191	ENSP00000305107:S191Y	ENSP00000305107:S191Y	S	+	2	0	GIMAP8	149795291	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.152000	0.00284	-2.485000	0.00520	-1.489000	0.00976	TCT	GIMAP8	-	pfam_AIG1	ENSG00000171115		0.423	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	252	0.00	0	C	NM_175571		150164358	150164358	+1	no_errors	ENST00000307271	ensembl	human	known	69_37n	missense	209	11.44	27	SNP	0.000	A
GIN1	54826	genome.wustl.edu	37	5	102444353	102444353	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:102444353C>T	ENST00000399004.2	-	2	153	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	GIN1_ENST00000508629.1_Missense_Mutation_p.R20Q	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	20					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TTCACCAGTTCGTTTGTAATA	0.323																																						dbGAP											0													143.0	133.0	136.0					5																	102444353		1847	4095	5942	-	-	-	SO:0001583	missense	0			BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.59G>A	5.37:g.102444353C>T	ENSP00000381970:p.Arg20Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.R20Q	ENST00000399004.2	37	c.59	CCDS43349.1	5	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691953	0.48097	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.22336	2.16;1.96	6.16	6.16	0.99307	.	0.000000	0.48767	D	0.000164	T	0.25306	0.0615	N	0.08118	0	0.30283	N	0.791099	P;D	0.89917	0.784;1.0	B;D	0.63957	0.071;0.92	T	0.12941	-1.0528	10	0.62326	D	0.03	0.0992	14.717	0.69277	0.1443:0.8557:0.0:0.0	.	20;20	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	Q	20	ENSP00000381970:R20Q;ENSP00000427162:R20Q	ENSP00000381970:R20Q	R	-	2	0	GIN1	102472252	0.981000	0.34729	1.000000	0.80357	0.856000	0.48823	0.468000	0.22051	2.937000	0.99478	0.650000	0.86243	CGA	GIN1	-	NULL	ENSG00000145723		0.323	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIN1	HGNC	protein_coding	OTTHUMT00000370478.3	514	0.19	1	C	NM_017676		102444353	102444353	-1	no_errors	ENST00000399004	ensembl	human	known	69_37n	missense	341	18.03	75	SNP	1.000	T
GINS3	64785	genome.wustl.edu	37	16	58438421	58438421	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:58438421C>T	ENST00000318129.5	+	3	647	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	GINS3_ENST00000328514.7_Missense_Mutation_p.R69C|GINS3_ENST00000426538.2_Missense_Mutation_p.R186C	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	147					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						CGGACGTTTTCGCCGCATCAT	0.468																																						dbGAP											0													120.0	97.0	105.0					16																	58438421		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.439C>T	16.37:g.58438421C>T	ENSP00000318196:p.Arg147Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP3|E9PB21|Q9H870	Missense_Mutation	SNP	pfam_GINS_complex	p.R186C	ENST00000318129.5	37	c.556	CCDS10796.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257415	0.80246	.	.	ENSG00000181938	ENST00000426538;ENST00000328514;ENST00000318129	T;T;T	0.16324	2.35;2.35;2.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.50326	0.1609	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.50363	-0.8837	10	0.49607	T	0.09	-13.2579	19.3813	0.94536	0.0:1.0:0.0:0.0	.	186;69;147	E9PB21;Q9BRX5-2;Q9BRX5	.;.;PSF3_HUMAN	C	186;69;147	ENSP00000401018:R186C;ENSP00000327449:R69C;ENSP00000318196:R147C	ENSP00000318196:R147C	R	+	1	0	GINS3	56995922	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.709000	0.61867	2.824000	0.97209	0.655000	0.94253	CGC	GINS3	-	pfam_GINS_complex	ENSG00000181938		0.468	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS3	HGNC	protein_coding	OTTHUMT00000257384.2	298	0.00	0	C	NM_022770		58438421	58438421	+1	no_errors	ENST00000426538	ensembl	human	known	69_37n	missense	135	42.37	100	SNP	1.000	T
GIT2	9815	genome.wustl.edu	37	12	110385283	110385283	+	Silent	SNP	C	C	T	rs200155797		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:110385283C>T	ENST00000355312.3	-	15	1418	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	GIT2_ENST00000360185.4_Silent_p.S423S|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000354574.4_Silent_p.S425S|GIT2_ENST00000343646.5_Silent_p.S393S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Silent_p.S422S|GIT2_ENST00000361006.5_Silent_p.S473S|GIT2_ENST00000457474.2_Silent_p.S425S	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	473					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TCCTGAGGTTCGAATTTTCAC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		19567	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													142.0	140.0	140.0					12																	110385283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1419G>A	12.37:g.110385283C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.S473	ENST00000355312.3	37	c.1419	CCDS9138.1	12																																																																																			GIT2	-	NULL	ENSG00000139436		0.423	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	177	0.00	0	C	NM_057169		110385283	110385283	-1	no_errors	ENST00000355312	ensembl	human	known	69_37n	silent	149	13.22	23	SNP	1.000	T
GJA1	2697	genome.wustl.edu	37	6	121768541	121768541	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:121768541C>A	ENST00000282561.3	+	2	705	c.548C>A	c.(547-549)gCt>gAt	p.A183D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	183					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	AGCTTGAGTGCTGTTTACACT	0.488																																						dbGAP											0													119.0	111.0	114.0					6																	121768541		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.548C>A	6.37:g.121768541C>A	ENSP00000282561:p.Ala183Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.A183D	ENST00000282561.3	37	c.548	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356867	0.41801	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.95518	-3.73	5.81	4.95	0.65309	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.96030	0.8707	M	0.78801	2.425	0.80722	D	1	D	0.55172	0.97	P	0.54965	0.765	D	0.96286	0.9210	10	0.87932	D	0	.	14.748	0.69501	0.0:0.9308:0.0:0.0692	.	183	P17302	CXA1_HUMAN	D	167;183	ENSP00000282561:A183D	ENSP00000282561:A183D	A	+	2	0	GJA1	121810240	1.000000	0.71417	0.328000	0.25416	0.086000	0.17979	7.776000	0.85560	1.475000	0.48197	0.460000	0.39030	GCT	GJA1	-	pfam_Connexin_CCC	ENSG00000152661		0.488	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	194	0.00	0	C	NM_000165		121768541	121768541	+1	no_errors	ENST00000282561	ensembl	human	known	69_37n	missense	197	13.16	30	SNP	0.997	A
GJA10	84694	genome.wustl.edu	37	6	90604299	90604299	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:90604299C>T	ENST00000369352.1	+	1	112	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	38					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GCTGGTACTTCGTGTGGCTGC	0.498																																						dbGAP											0													129.0	111.0	117.0					6																	90604299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.112C>T	6.37:g.90604299C>T	ENSP00000358358:p.Arg38Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.R38C	ENST00000369352.1	37	c.112	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059693	0.55325	.	.	ENSG00000135355	ENST00000369352	D	0.99070	-5.39	4.79	3.92	0.45320	Connexin, N-terminal (1);	0.114963	0.64402	D	0.000014	D	0.92802	0.7711	N	0.08118	0	0.49687	D	0.999811	P	0.38745	0.645	B	0.30251	0.113	D	0.93784	0.7086	10	0.72032	D	0.01	.	14.6279	0.68635	0.0:0.1641:0.8359:0.0	.	38	Q969M2	CXA10_HUMAN	C	38	ENSP00000358358:R38C	ENSP00000358358:R38C	R	+	1	0	GJA10	90661020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.519000	0.81809	1.257000	0.44085	0.557000	0.71058	CGT	GJA10	-	pfam_Connexin_N,prints_Connexin	ENSG00000135355		0.498	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	277	0.00	0	C	NM_032602		90604299	90604299	+1	no_errors	ENST00000369352	ensembl	human	known	69_37n	missense	175	13.73	28	SNP	1.000	T
GJA1	2697	genome.wustl.edu	37	6	121768949	121768949	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:121768949G>A	ENST00000282561.3	+	2	1113	c.956G>A	c.(955-957)cGa>cAa	p.R319Q		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	319					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GAACAAAATCGAATGGGGCAG	0.448																																						dbGAP											0													75.0	76.0	76.0					6																	121768949		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.956G>A	6.37:g.121768949G>A	ENSP00000282561:p.Arg319Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.R319Q	ENST00000282561.3	37	c.956	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	G	9.699	1.153914	0.21371	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.84298	-1.83	4.88	4.88	0.63580	.	0.076576	0.47093	D	0.000242	T	0.67078	0.2855	L	0.27053	0.805	0.58432	D	0.999994	B	0.24768	0.111	B	0.13407	0.009	T	0.64457	-0.6403	10	0.19147	T	0.46	.	18.5905	0.91210	0.0:0.0:1.0:0.0	.	319	P17302	CXA1_HUMAN	Q	303;319	ENSP00000282561:R319Q	ENSP00000282561:R319Q	R	+	2	0	GJA1	121810648	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.235000	0.78143	2.694000	0.91930	0.585000	0.79938	CGA	GJA1	-	NULL	ENSG00000152661		0.448	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	123	0.00	0	G	NM_000165		121768949	121768949	+1	no_errors	ENST00000282561	ensembl	human	known	69_37n	missense	120	11.59	16	SNP	0.997	A
GJA3	2700	genome.wustl.edu	37	13	20716915	20716915	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:20716915G>A	ENST00000241125.3	-	2	689	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	171					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GCTCGAAGCCGTACAGAAAGT	0.617																																						dbGAP											0													46.0	44.0	45.0					13																	20716915		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.513C>T	13.37:g.20716915G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAB7|Q9H537	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.Y171	ENST00000241125.3	37	c.513	CCDS9289.1	13																																																																																			GJA3	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000121743		0.617	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	HGNC	protein_coding	OTTHUMT00000044059.3	17	0.00	0	G	NM_021954		20716915	20716915	-1	no_errors	ENST00000241125	ensembl	human	known	69_37n	silent	14	22.22	4	SNP	0.868	A
GJA8	2703	genome.wustl.edu	37	1	147381070	147381070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:147381070G>T	ENST00000369235.1	+	1	988	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	GJA8_ENST00000240986.4_Nonsense_Mutation_p.E330*			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	330					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGGCACAAGAAGTGGAGGG	0.617																																					Melanoma(76;1255 1795 8195 52096)	dbGAP											0													25.0	25.0	25.0					1																	147381070		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.988G>T	1.37:g.147381070G>T	ENSP00000358238:p.Glu330*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7L5M5|Q5VVN9|Q9NP25	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.E330*	ENST00000369235.1	37	c.988	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	17.74	3.463669	0.63513	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	.	.	.	4.95	4.0	0.46444	.	0.871401	0.09712	U	0.765570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	14.685	0.69042	0.0:0.1464:0.8536:0.0	.	.	.	.	X	330	.	ENSP00000240986:E330X	E	+	1	0	GJA8	145847694	1.000000	0.71417	0.305000	0.25099	0.388000	0.30384	3.253000	0.51469	1.232000	0.43678	0.561000	0.74099	GAA	GJA8	-	prints_Connexin50	ENSG00000121634		0.617	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	158	0.00	0	G	NM_005267		147381070	147381070	+1	no_errors	ENST00000240986	ensembl	human	known	69_37n	nonsense	98	10.91	12	SNP	0.965	T
GK	2710	genome.wustl.edu	37	X	30671719	30671719	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30671719C>T	ENST00000378941.3	+	1	65	c.65C>T	c.(64-66)tCg>tTg	p.S22L	GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.S22L|GK_ENST00000378946.3_Missense_Mutation_p.S22L|GK_ENST00000378943.3_Missense_Mutation_p.S22L			P32189	GLPK_HUMAN	glycerol kinase	22					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.S22L(1)		central_nervous_system(1)|large_intestine(3)	4						GGCACCAGTTCGACGCGCTTT	0.667																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											60.0	59.0	59.0					X																	30671719		2202	4299	6501	-	-	-	SO:0001583	missense	0			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.65C>T	X.37:g.30671719C>T	ENSP00000368224:p.Ser22Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.S22L	ENST00000378941.3	37	c.65		X	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883687	0.91740	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	H	0.95539	3.685	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62298	0.839;0.839;0.9	D	0.87258	0.2277	10	0.87932	D	0	.	12.4672	0.55766	0.0:1.0:0.0:0.0	.	22;22;22	P32189-2;P32189-1;A6NJP5	.;.;.	L	22	ENSP00000368229:S22L;ENSP00000368226:S22L;ENSP00000368228:S22L;ENSP00000368224:S22L	ENSP00000368224:S22L	S	+	2	0	GK	30581640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.465000	0.53064	2.435000	0.82474	0.600000	0.82982	TCG	GK	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000198814		0.667	GK-005	PUTATIVE	basic|exp_conf	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056171.1	165	0.00	0	C	NM_000167		30671719	30671719	+1	no_errors	ENST00000378943	ensembl	human	known	69_37n	missense	52	31.65	25	SNP	1.000	T
GK	2710	genome.wustl.edu	37	X	30686136	30686136	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30686136G>A	ENST00000378941.3	+	3	160	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	GK_ENST00000378945.3_Missense_Mutation_p.E54K|GK_ENST00000378943.3_Missense_Mutation_p.E54K|GK_ENST00000378946.3_Missense_Mutation_p.E54K|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	54					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						AAGATGGGTGGAACAGGACCC	0.353																																						dbGAP											0													64.0	54.0	57.0					X																	30686136		2202	4297	6499	-	-	-	SO:0001583	missense	0			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.160G>A	X.37:g.30686136G>A	ENSP00000368224:p.Glu54Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.E54K	ENST00000378941.3	37	c.160		X	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046796	0.93740	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.71	5.71	0.89125	.	0.046444	0.85682	D	0.000000	D	0.86393	0.5922	H	0.98769	4.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92011	0.5618	10	0.87932	D	0	.	17.4274	0.87530	0.0:0.0:1.0:0.0	.	54;54;54	P32189-2;P32189-1;A6NJP5	.;.;.	K	54	ENSP00000368229:E54K;ENSP00000368226:E54K;ENSP00000368228:E54K;ENSP00000368224:E54K	ENSP00000368224:E54K	E	+	1	0	GK	30596057	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.932000	0.92897	2.384000	0.81235	0.513000	0.50165	GAA	GK	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000198814		0.353	GK-005	PUTATIVE	basic|exp_conf	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056171.1	169	0.00	0	G	NM_000167		30686136	30686136	+1	no_errors	ENST00000378943	ensembl	human	known	69_37n	missense	118	28.48	47	SNP	1.000	A
GK	2710	genome.wustl.edu	37	X	30686235	30686235	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30686235G>T	ENST00000378941.3	+	3	259	c.259G>T	c.(259-261)Gct>Tct	p.A87S	GK_ENST00000378945.3_Splice_Site_p.A87S|GK_ENST00000378943.3_Splice_Site_p.A87S|GK_ENST00000378946.3_Splice_Site_p.A87S|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	87					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						CAACATAAAAGGTATTTTAGT	0.328																																						dbGAP											0													46.0	41.0	43.0					X																	30686235		2202	4296	6498	-	-	-	SO:0001630	splice_region_variant	0			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.259+1G>T	X.37:g.30686235G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.A87S	ENST00000378941.3	37	c.259		X	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455634	0.84209	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.995;0.995;1.0	T	0.69450	-0.5142	10	0.51188	T	0.08	.	17.1985	0.86900	0.0:0.0:1.0:0.0	.	87;87;87	P32189-2;P32189-1;A6NJP5	.;.;.	S	87	ENSP00000368229:A87S;ENSP00000368226:A87S;ENSP00000368228:A87S;ENSP00000368224:A87S	ENSP00000368224:A87S	A	+	1	0	GK	30596156	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.932000	0.92897	2.327000	0.79052	0.422000	0.28245	GCT	GK	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000198814		0.328	GK-005	PUTATIVE	basic|exp_conf	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056171.1	136	0.00	0	G	NM_000167	Missense_Mutation	30686235	30686235	+1	no_errors	ENST00000378943	ensembl	human	known	69_37n	missense	131	13.82	21	SNP	1.000	T
GK	2710	genome.wustl.edu	37	X	30737550	30737550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30737550G>T	ENST00000378943.3	+	14	1230	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*	GK_ENST00000378945.3_Nonsense_Mutation_p.E351*|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Nonsense_Mutation_p.E357*|GK_ENST00000427190.1_Nonsense_Mutation_p.E152*	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	357					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						ACTTGCTAAAGAAGTAGGTAC	0.318																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1051G>T	X.37:g.30737550G>T	ENSP00000368226:p.Glu351*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.E351*	ENST00000378943.3	37	c.1051	CCDS48090.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.276940	0.98182	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432	.	.	.	5.76	5.76	0.90799	.	0.140560	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.153	0.93496	0.0:0.0:1.0:0.0	.	.	.	.	X	357;351;357;351;152;194	.	ENSP00000368226:E351X	E	+	1	0	GK	30647471	0.987000	0.35691	1.000000	0.80357	0.980000	0.70556	2.282000	0.43461	2.560000	0.86352	0.594000	0.82650	GAA	GK	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	ENSG00000198814		0.318	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056170.1	255	0.00	0	G	NM_000167		30737550	30737550	+1	no_errors	ENST00000378943	ensembl	human	known	69_37n	nonsense	129	25.00	43	SNP	1.000	T
GK	2710	genome.wustl.edu	37	X	30738757	30738757	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30738757G>A	ENST00000378943.3	+	16	1417	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	GK_ENST00000378945.3_Missense_Mutation_p.R413Q|GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.R419Q|GK_ENST00000427190.1_Missense_Mutation_p.R214Q	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	419					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GCCATGAATCGAGACTGTGGA	0.368																																						dbGAP											0													102.0	93.0	96.0					X																	30738757		2202	4300	6502	-	-	-	SO:0001583	missense	0			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1238G>A	X.37:g.30738757G>A	ENSP00000368226:p.Arg413Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.R413Q	ENST00000378943.3	37	c.1238	CCDS48090.1	X	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192668	0.38707	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88	5.59	3.45	0.39498	Carbohydrate kinase, FGGY, C-terminal (1);	0.168408	0.51477	D	0.000093	T	0.64438	0.2598	N	0.05124	-0.11	0.32974	D	0.522756	B;B;B;B;B	0.12630	0.003;0.001;0.001;0.001;0.006	B;B;B;B;B	0.09377	0.004;0.004;0.002;0.002;0.004	T	0.60464	-0.7258	10	0.26408	T	0.33	.	4.3472	0.11138	0.5105:0.0:0.4895:0.0	.	256;419;413;413;419	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	Q	419;413;419;413;214;256;8	ENSP00000368229:R419Q;ENSP00000368226:R413Q;ENSP00000368228:R413Q;ENSP00000401720:R214Q;ENSP00000368221:R8Q	ENSP00000368221:R8Q	R	+	2	0	GK	30648678	1.000000	0.71417	0.721000	0.30653	0.945000	0.59286	7.640000	0.83355	1.245000	0.43885	0.600000	0.82982	CGA	GK	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	ENSG00000198814		0.368	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056170.1	241	0.00	0	G	NM_000167		30738757	30738757	+1	no_errors	ENST00000378943	ensembl	human	known	69_37n	missense	137	32.35	66	SNP	0.977	A
GK5	256356	genome.wustl.edu	37	3	141905075	141905075	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:141905075G>A	ENST00000392993.2	-	8	867	c.716C>T	c.(715-717)tCg>tTg	p.S239L	GK5_ENST00000544571.1_Missense_Mutation_p.S239L	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	239					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAGTGGTATCGAAATTAGAGA	0.348																																						dbGAP											0													119.0	116.0	117.0					3																	141905075		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.716C>T	3.37:g.141905075G>A	ENSP00000418001:p.Ser239Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.S239L	ENST00000392993.2	37	c.716	CCDS33871.1	3	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208339	0.58343	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.47177	0.85;0.85	4.83	4.83	0.62350	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.83953	2.67	0.80722	D	1	P	0.51147	0.942	P	0.46076	0.503	T	0.69569	-0.5110	10	0.72032	D	0.01	-12.3199	17.0744	0.86582	0.0:0.0:1.0:0.0	.	239	Q6ZS86	GLPK5_HUMAN	L	239	ENSP00000418001:S239L;ENSP00000440860:S239L	ENSP00000418001:S239L	S	-	2	0	GK5	143387765	1.000000	0.71417	0.046000	0.18839	0.061000	0.15899	5.197000	0.65141	2.377000	0.81083	0.655000	0.94253	TCG	GK5	-	pfam_Carb_kinase_FGGY_N	ENSG00000175066		0.348	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1	189	0.00	0	G	NM_001039547		141905075	141905075	-1	no_errors	ENST00000392993	ensembl	human	known	69_37n	missense	145	21.20	39	SNP	0.998	A
GLA	2717	genome.wustl.edu	37	X	100652808	100652808	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100652808C>A	ENST00000218516.3	-	7	1300	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	427					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TAAAGTAAGTCTTTTAATGAC	0.378																																					Colon(193;776 2816 31189 44474)	dbGAP											0													74.0	71.0	72.0					X																	100652808		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.1279G>T	X.37:g.100652808C>A	ENSP00000218516:p.Asp427Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LER7	Missense_Mutation	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.D427Y	ENST00000218516.3	37	c.1279	CCDS14484.1	X	.	.	.	.	.	.	.	.	.	.	C	5.875	0.345635	0.11126	.	.	ENSG00000102393	ENST00000218516	D	0.99948	-8.66	4.09	-2.67	0.06059	.	7.762830	0.00166	N	0.000000	D	0.99616	0.9860	.	.	.	0.09310	N	1	B	0.17268	0.021	B	0.11329	0.006	D	0.99999	1.9464	9	0.54805	T	0.06	14.2932	0.6766	0.00868	0.2605:0.2862:0.2617:0.1917	.	427	P06280	AGAL_HUMAN	Y	427	ENSP00000218516:D427Y	ENSP00000218516:D427Y	D	-	1	0	GLA	100539464	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.492000	0.02300	-0.682000	0.05197	-0.340000	0.08031	GAC	GLA	-	NULL	ENSG00000102393		0.378	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	106	0.00	0	C			100652808	100652808	-1	no_errors	ENST00000218516	ensembl	human	known	69_37n	missense	111	11.90	15	SNP	0.000	A
GLB1L	79411	genome.wustl.edu	37	2	220107271	220107271	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220107271C>T	ENST00000295759.7	-	5	729	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	GLB1L_ENST00000409640.1_Missense_Mutation_p.R139Q|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409638.3_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.R139Q|GLB1L_ENST00000497855.1_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.R139Q|STK16_ENST00000409516.3_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	139					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.R139Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAGGTTTTCGAAGCAACCA	0.438																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											138.0	132.0	134.0					2																	220107271		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.416G>A	2.37:g.220107271C>T	ENSP00000295759:p.Arg139Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R139Q	ENST00000295759.7	37	c.416	CCDS2437.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.523|9.523	1.108714|1.108714	0.20714|0.20714	.|.	.|.	ENSG00000163521|ENSG00000163521	ENST00000440853|ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	.|D;D;D;D	.|0.98075	.|-4.7;-4.7;-4.7;-4.7	5.65|5.65	0.648|0.648	0.17801|0.17801	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.920840	.|0.09391	.|N	.|0.808607	D|D	0.92247|0.92247	0.7541|0.7541	N|N	0.20610|0.20610	0.595|0.595	0.09310|0.09310	N|N	1|1	.|B;B	.|0.21821	.|0.03;0.061	.|B;B	.|0.16289	.|0.008;0.015	D|D	0.84219|0.84219	0.0460|0.0460	5|10	.|0.20519	.|T	.|0.43	-0.4413|-0.4413	4.9025|4.9025	0.13782|0.13782	0.0:0.4133:0.2673:0.3194|0.0:0.4133:0.2673:0.3194	.|.	.|139;139	.|Q6UWU2-2;Q6UWU2	.|.;GLB1L_HUMAN	K|Q	72|139	.|ENSP00000295759:R139Q;ENSP00000386354:R139Q;ENSP00000375939:R139Q;ENSP00000348628:R139Q	.|ENSP00000295759:R139Q	E|R	-|-	1|2	0|0	GLB1L|GLB1L	219815515|219815515	0.687000|0.687000	0.27671|0.27671	0.590000|0.590000	0.28732|0.28732	0.704000|0.704000	0.40688|0.40688	-0.113000|-0.113000	0.10774|0.10774	0.157000|0.157000	0.19338|0.19338	-0.126000|-0.126000	0.14955|0.14955	GAA|CGA	GLB1L	-	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF	ENSG00000163521		0.438	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	153	0.00	0	C	NM_024506		220107271	220107271	-1	no_errors	ENST00000295759	ensembl	human	known	69_37n	missense	88	26.05	31	SNP	0.334	T
GLDC	2731	genome.wustl.edu	37	9	6553491	6553491	+	Silent	SNP	C	C	T	rs191795314		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:6553491C>T	ENST00000321612.6	-	20	2484	c.2334G>A	c.(2332-2334)ccG>ccA	p.P778P		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	778					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TGGGCAAAAACGGGGCGAGAT	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20001	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	94.0	96.0					9																	6553491		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2334G>A	9.37:g.6553491C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2F8	Silent	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.P778	ENST00000321612.6	37	c.2334	CCDS34987.1	9																																																																																			GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	ENSG00000178445		0.473	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	538	0.00	0	C	NM_000170		6553491	6553491	-1	no_errors	ENST00000321612	ensembl	human	known	69_37n	silent	444	11.83	60	SNP	0.984	T
GLG1	2734	genome.wustl.edu	37	16	74487163	74487163	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:74487163G>T	ENST00000422840.2	-	26	3441	c.3442C>A	c.(3442-3444)Ctc>Atc	p.L1148I	GLG1_ENST00000205061.5_Missense_Mutation_p.L1148I|GLG1_ENST00000447066.2_Missense_Mutation_p.L1137I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1148					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATCACAGAGAGAATGTAGTTC	0.488																																						dbGAP											0													212.0	178.0	189.0					16																	74487163		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3442C>A	16.37:g.74487163G>T	ENSP00000405984:p.Leu1148Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.L1148I	ENST00000422840.2	37	c.3442	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587499	0.46110	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.54	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.75613	0.3873	M	0.74647	2.275	0.80722	D	1	B;P;D;D	0.67145	0.088;0.954;0.996;0.993	B;P;D;D	0.75484	0.055;0.541;0.986;0.967	T	0.77459	-0.2580	9	0.62326	D	0.03	-8.9005	10.683	0.45826	0.2824:0.0:0.7176:0.0	.	278;1148;1148;1137	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	I	1148;1137;1148	.	ENSP00000205061:L1148I	L	-	1	0	GLG1	73044664	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	3.220000	0.51207	1.334000	0.45468	0.514000	0.50259	CTC	GLG1	-	NULL	ENSG00000090863		0.488	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	189	0.00	0	G	NM_012201		74487163	74487163	-1	no_errors	ENST00000205061	ensembl	human	known	69_37n	missense	66	42.61	49	SNP	1.000	T
GLIPR1L2	144321	genome.wustl.edu	37	12	75804272	75804272	+	Missense_Mutation	SNP	C	C	T	rs376778122		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:75804272C>T	ENST00000550916.1	+	2	340	c.293C>T	c.(292-294)aCg>aTg	p.T98M	GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.T98M|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.T98M|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.T33M|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.T98M	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	98	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGTTTGTTTACGCATAATATT	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		15373	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													86.0	86.0	86.0					12																	75804272		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.293C>T	12.37:g.75804272C>T	ENSP00000448248:p.Thr98Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T98M	ENST00000550916.1	37	c.293	CCDS58258.1	12	.	.	.	.	.	.	.	.	.	.	C	8.857	0.945980	0.18356	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.04	-2.29	0.06805	CAP domain (3);	1.536650	0.03575	N	0.229172	T	0.13243	0.0321	L	0.38175	1.15	0.09310	N	1	P;D	0.60160	0.62;0.987	B;P	0.49597	0.264;0.616	T	0.32693	-0.9897	10	0.49607	T	0.09	.	6.6958	0.23197	0.5269:0.3238:0.1493:0.0	.	98;98	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	M	98;98;98;98;33	ENSP00000448248:T98M;ENSP00000398328:T98M;ENSP00000317385:T98M;ENSP00000447980:T98M;ENSP00000405273:T33M	ENSP00000317385:T98M	T	+	2	0	GLIPR1L2	74090539	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	0.165000	0.16564	-0.195000	0.10382	-0.357000	0.07601	ACG	GLIPR1L2	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000180481		0.328	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1	177	0.00	0	C	NM_152436		75804272	75804272	+1	no_errors	ENST00000550916	ensembl	human	known	69_37n	missense	210	13.22	32	SNP	0.000	T
GLIPR1	11010	genome.wustl.edu	37	12	75875776	75875776	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:75875776G>A	ENST00000266659.3	+	2	538	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	113	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGTGTCTTCCGCCATCACAAA	0.483																																						dbGAP											0													116.0	100.0	106.0					12																	75875776		2203	4300	6503	-	-	-	SO:0001583	missense	0			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.337G>A	12.37:g.75875776G>A	ENSP00000266659:p.Ala113Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.A113T	ENST00000266659.3	37	c.337	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517410	0.64634	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.52526	0.66;0.66	5.82	5.82	0.92795	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.90252	3.1	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.979;0.997	T	0.77571	-0.2538	10	0.46703	T	0.11	.	18.2657	0.90051	0.0:0.0:1.0:0.0	.	113;113	F6VVE8;P48060	.;GLIP1_HUMAN	T	113	ENSP00000266659:A113T;ENSP00000391144:A113T	ENSP00000266659:A113T	A	+	1	0	GLIPR1	74162043	1.000000	0.71417	0.977000	0.42913	0.018000	0.09664	7.752000	0.85141	2.756000	0.94617	0.561000	0.74099	GCC	GLIPR1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	ENSG00000139278		0.483	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	229	0.43	1	G	NM_006851		75875776	75875776	+1	no_errors	ENST00000266659	ensembl	human	known	69_37n	missense	166	12.04	23	SNP	0.962	A
GLIPR2	152007	genome.wustl.edu	37	9	36162557	36162557	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:36162557C>T	ENST00000377960.4	+	0	537				GLIPR2_ENST00000377959.1_3'UTR|GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2						positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GACTTAAGAACGTGGATATGA	0.507																																						dbGAP											0													44.0	40.0	41.0					9																	36162557		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"""chromosome 9 open reading frame 19"""	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.*38C>T	9.37:g.36162557C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	RNA	SNP	-	NULL	ENST00000377960.4	37	NULL	CCDS6598.1	9																																																																																			GLIPR2	-	-	ENSG00000122694		0.507	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR2	HGNC	protein_coding	OTTHUMT00000052414.1	246	0.00	0	C	NM_022343		36162557	36162557	+1	no_errors	ENST00000474050	ensembl	human	known	69_37n	rna	183	25.91	64	SNP	0.000	T
GLRA3	8001	genome.wustl.edu	37	4	175649778	175649778	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:175649778G>A	ENST00000274093.3	-	4	841	c.339C>T	c.(337-339)gaC>gaT	p.D113D	GLRA3_ENST00000340217.5_Silent_p.D113D|GLRA3_ENST00000436738.1_5'UTR	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	113					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	CTAAAGAGTCGTCAGGATATT	0.408																																						dbGAP											0													101.0	110.0	107.0					4																	175649778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.339C>T	4.37:g.175649778G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP44|O75816|Q5D0E3	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.D113	ENST00000274093.3	37	c.339	CCDS3822.1	4																																																																																			GLRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel	ENSG00000145451		0.408	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	239	0.42	1	G			175649778	175649778	-1	no_errors	ENST00000274093	ensembl	human	known	69_37n	silent	156	18.75	36	SNP	1.000	A
GLS	2744	genome.wustl.edu	37	2	191760449	191760449	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:191760449A>C	ENST00000320717.3	+	3	861	c.603A>C	c.(601-603)aaA>aaC	p.K201N	GLS_ENST00000338435.4_Missense_Mutation_p.K201N	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	201					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	ATCTTTTTAAAAAGTAAAAGT	0.368																																						dbGAP											0													58.0	61.0	60.0					2																	191760449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.603A>C	2.37:g.191760449A>C	ENSP00000317379:p.Lys201Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.K201N	ENST00000320717.3	37	c.603	CCDS2308.1	2	.	.	.	.	.	.	.	.	.	.	A	19.17	3.774797	0.70107	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.52295	0.79;0.67	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	L	0.58101	1.795	0.80722	D	1	P;P	0.52842	0.956;0.956	B;P	0.46796	0.394;0.527	T	0.58973	-0.7541	10	0.87932	D	0	-18.3417	15.583	0.76459	1.0:0.0:0.0:0.0	.	201;201	O94925;O94925-3	GLSK_HUMAN;.	N	201	ENSP00000317379:K201N;ENSP00000340689:K201N	ENSP00000317379:K201N	K	+	3	2	GLS	191468694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.642000	0.61383	2.094000	0.63399	0.477000	0.44152	AAA	GLS	-	NULL	ENSG00000115419		0.368	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	104	0.00	0	A			191760449	191760449	+1	no_errors	ENST00000320717	ensembl	human	known	69_37n	missense	82	29.91	35	SNP	1.000	C
GLT8D1	55830	genome.wustl.edu	37	3	52731899	52731899	+	Missense_Mutation	SNP	C	C	T	rs201758107		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:52731899C>T	ENST00000407584.3	-	5	1017	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	GLT8D1_ENST00000266014.5_Missense_Mutation_p.R56Q|GLT8D1_ENST00000478968.2_Missense_Mutation_p.R56Q|GLT8D1_ENST00000394783.3_Missense_Mutation_p.R56Q|GLT8D1_ENST00000491606.1_Missense_Mutation_p.R56Q|GLT8D1_ENST00000463827.1_5'Flank	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	56						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TACTGCATGTCGGAGAGCATT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19967	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													117.0	109.0	111.0					3																	52731899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.167G>A	3.37:g.52731899C>T	ENSP00000385730:p.Arg56Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R56Q	ENST00000407584.3	37	c.167	CCDS2862.1	3	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.370	0.626701	0.14257	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000479553;ENST00000489119;ENST00000497436;ENST00000497953;ENST00000487642	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.67	-4.41	0.03590	.	1.606200	0.03074	N	0.157541	T	0.17746	0.0426	N	0.02011	-0.69	0.09310	N	1	B;B	0.18166	0.026;0.0	B;B	0.06405	0.002;0.0	T	0.38001	-0.9681	10	0.07325	T	0.83	5.3434	14.9311	0.70916	0.0:0.1483:0.0:0.8517	.	56;56	Q68CQ7-2;Q68CQ7	.;GL8D1_HUMAN	Q	56	ENSP00000419612:R56Q;ENSP00000378263:R56Q;ENSP00000385730:R56Q;ENSP00000266014:R56Q;ENSP00000418853:R56Q	ENSP00000266014:R56Q	R	-	2	0	GLT8D1	52706939	0.020000	0.18652	0.000000	0.03702	0.051000	0.14879	0.246000	0.18160	-0.751000	0.04734	-0.140000	0.14226	CGA	GLT8D1	-	NULL	ENSG00000016864		0.478	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D1	HGNC	protein_coding	OTTHUMT00000352065.3	137	0.00	0	C	NM_152932		52731899	52731899	-1	no_errors	ENST00000266014	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	0.000	T
GLT8D2	83468	genome.wustl.edu	37	12	104396919	104396919	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:104396919C>T	ENST00000360814.4	-	5	683	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	GLT8D2_ENST00000548660.1_Missense_Mutation_p.R93Q|GLT8D2_ENST00000546436.1_Missense_Mutation_p.R93Q	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	93						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTACCGTATTCGAGTCAGAGT	0.493																																						dbGAP											0													167.0	145.0	152.0					12																	104396919		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.278G>A	12.37:g.104396919C>T	ENSP00000354053:p.Arg93Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96KA2	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R93Q	ENST00000360814.4	37	c.278	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975971	0.53720	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660;ENST00000546851	T;T;T;T	0.41065	1.01;1.01;1.01;2.01	5.73	4.65	0.58169	.	0.494282	0.21002	N	0.081846	T	0.19565	0.0470	N	0.17474	0.49	0.80722	D	1	P	0.38642	0.641	B	0.31495	0.131	T	0.04065	-1.0980	10	0.14252	T	0.57	.	6.963	0.24608	0.0:0.7562:0.0:0.2438	.	93	Q9H1C3	GL8D2_HUMAN	Q	93;93;93;32	ENSP00000354053:R93Q;ENSP00000449750:R93Q;ENSP00000447450:R93Q;ENSP00000446810:R32Q	ENSP00000354053:R93Q	R	-	2	0	GLT8D2	102921049	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	2.399000	0.44495	2.709000	0.92574	0.563000	0.77884	CGA	GLT8D2	-	pfam_Glyco_trans_8	ENSG00000120820		0.493	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	292	0.00	0	C	NM_031302		104396919	104396919	-1	no_errors	ENST00000360814	ensembl	human	known	69_37n	missense	297	11.04	37	SNP	0.978	T
GLUD1	2746	genome.wustl.edu	37	10	88818924	88818924	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:88818924G>T	ENST00000277865.4	-	10	1481	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	GLUD1_ENST00000544149.1_Missense_Mutation_p.S329Y|GLUD1_ENST00000537649.1_Missense_Mutation_p.S295Y|GLUD1_ENST00000465164.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	462					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GTGGTAGTTAGAATCCCTTTC	0.408																																						dbGAP											0													189.0	182.0	185.0					10																	88818924		2203	4299	6502	-	-	-	SO:0001583	missense	0			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1385C>A	10.37:g.88818924G>T	ENSP00000277865:p.Ser462Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.S462Y	ENST00000277865.4	37	c.1385	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741894	0.89573	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96334	-3.98;-3.98;-3.98	5.72	5.72	0.89469	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.052818	0.85682	D	0.000000	D	0.98343	0.9450	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.98541	1.0632	10	0.66056	D	0.02	-7.638	20.3045	0.98621	0.0:0.0:1.0:0.0	.	329;462	B4DGN5;P00367	.;DHE3_HUMAN	Y	462;419;295;161;394;329	ENSP00000277865:S462Y;ENSP00000439291:S295Y;ENSP00000444732:S329Y	ENSP00000277865:S462Y	S	-	2	0	GLUD1	88808904	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.474000	0.97718	2.878000	0.98634	0.650000	0.86243	TCT	GLUD1	-	smart_Glu/Leu/Phe/Val_DH_C	ENSG00000148672		0.408	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	236	0.00	0	G	NM_005271		88818924	88818924	-1	no_errors	ENST00000277865	ensembl	human	known	69_37n	missense	127	26.59	46	SNP	1.000	T
GLUD1	2746	genome.wustl.edu	37	10	88820356	88820356	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:88820356G>T	ENST00000277865.4	-	8	1294				GLUD1_ENST00000544149.1_Intron|GLUD1_ENST00000537649.1_Intron|GLUD1_ENST00000465164.1_5'UTR	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ctgctaaaaaGAAAGAGAAAA	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1197+88C>A	10.37:g.88820356G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV55|B4DGN5|Q5TBU3	RNA	SNP	-	NULL	ENST00000277865.4	37	NULL	CCDS7382.1	10																																																																																			GLUD1	-	-	ENSG00000148672		0.398	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	177	0.00	0	G	NM_005271		88820356	88820356	-1	no_errors	ENST00000465164	ensembl	human	known	69_37n	rna	111	21.83	31	SNP	0.005	T
GLYCTK	132158	genome.wustl.edu	37	3	52326693	52326693	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:52326693C>A	ENST00000436784.2	+	5	1183	c.1123C>A	c.(1123-1125)Cat>Aat	p.H375N	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000471180.1_Intron|MIR135A1_ENST00000385191.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	375					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGCACAGCTCCATGAGCTGGC	0.617																																						dbGAP											0													35.0	38.0	37.0					3																	52326693		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1123C>A	3.37:g.52326693C>A	ENSP00000389175:p.His375Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	pfam_MOFRL	p.H375N	ENST00000436784.2	37	c.1123	CCDS2852.1	3	.	.	.	.	.	.	.	.	.	.	C	7.897	0.733561	0.15574	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.40476	1.03	5.85	1.93	0.25924	.	0.593344	0.18153	N	0.150040	T	0.23094	0.0558	N	0.22421	0.69	0.09310	N	0.999991	B	0.09022	0.002	B	0.01281	0.0	T	0.15350	-1.0440	9	.	.	.	-1.5225	5.0247	0.14379	0.1307:0.5276:0.0:0.3417	.	375	Q8IVS8	GLCTK_HUMAN	N	375;309	ENSP00000389175:H375N	.	H	+	1	0	GLYCTK	52301733	0.000000	0.05858	0.087000	0.20705	0.732000	0.41865	0.258000	0.18387	0.406000	0.25560	0.655000	0.94253	CAT	GLYCTK	-	NULL	ENSG00000168237		0.617	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYCTK	HGNC	protein_coding	OTTHUMT00000350835.1	22	0.00	0	C	NM_145262		52326693	52326693	+1	no_errors	ENST00000436784	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.009	A
GMIP	51291	genome.wustl.edu	37	19	19747800	19747800	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:19747800A>C	ENST00000203556.4	-	12	1300	c.1163T>G	c.(1162-1164)cTt>cGt	p.L388R	GMIP_ENST00000587238.1_Missense_Mutation_p.L388R|GMIP_ENST00000445806.2_Missense_Mutation_p.L388R|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	388	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCTTGGAGGAAGAGGCCCAGA	0.582																																						dbGAP											0													21.0	20.0	20.0					19																	19747800		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1163T>G	19.37:g.19747800A>C	ENSP00000203556:p.Leu388Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L388R	ENST00000203556.4	37	c.1163	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	A	7.856	0.725135	0.15439	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.22336	1.97;1.96	4.43	-8.86	0.00795	.	1.617950	0.04018	N	0.299318	T	0.10551	0.0258	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31054	0.306;0.148;0.112	B;B;B	0.27500	0.08;0.08;0.033	T	0.13124	-1.0521	10	0.25106	T	0.35	2.189	3.8273	0.08859	0.2334:0.1136:0.5309:0.1222	.	388;388;388	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	R	388	ENSP00000203556:L388R;ENSP00000397075:L388R	ENSP00000203556:L388R	L	-	2	0	GMIP	19608800	0.000000	0.05858	0.000000	0.03702	0.652000	0.38707	-1.033000	0.03571	-1.665000	0.01477	-0.558000	0.04189	CTT	GMIP	-	NULL	ENSG00000089639		0.582	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	49	0.00	0	A	NM_016573		19747800	19747800	-1	no_errors	ENST00000203556	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	0.000	C
GMNC	647309	genome.wustl.edu	37	3	190573635	190573635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:190573635C>A	ENST00000442080.1	-	5	453	c.454G>T	c.(454-456)Gag>Tag	p.E152*	GMNC_ENST00000479491.1_5'UTR	NM_001146686.2	NP_001140158.1	A6NCL1	GEMC1_HUMAN	geminin coiled-coil domain containing	152					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication initiation (GO:0006270)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(3)|skin(1)	5						TATCTTTGCTCTTTGGATTTT	0.408																																						dbGAP											0													116.0	96.0	102.0					3																	190573635		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BC031680	CCDS54697.1	3q28	2011-08-19	2011-08-19		ENSG00000205835	ENSG00000205835			40049	protein-coding gene	gene with protein product		614448				20383140, 20855966	Standard	NM_001146686		Approved	GEMC1	uc011bsl.1	A6NCL1	OTTHUMG00000156195	ENST00000442080.1:c.454G>T	3.37:g.190573635C>A	ENSP00000406164:p.Glu152*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E152*	ENST00000442080.1	37	c.454	CCDS54697.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192131	0.78902	.	.	ENSG00000205835	ENST00000442080	.	.	.	5.38	4.49	0.54785	.	0.294645	0.31246	N	0.007982	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-25.6485	13.6081	0.62058	0.0:0.7028:0.2972:0.0	.	.	.	.	X	152	.	ENSP00000406164:E152X	E	-	1	0	RP11-332P22.1	192056329	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	2.120000	0.41968	1.240000	0.43803	0.557000	0.71058	GAG	GMNC	-	NULL	ENSG00000205835		0.408	GMNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNC	HGNC	protein_coding	OTTHUMT00000343364.1	198	0.00	0	C	NM_001146686		190573635	190573635	-1	no_errors	ENST00000442080	ensembl	human	known	69_37n	nonsense	164	15.90	31	SNP	0.984	A
GMPPA	29926	genome.wustl.edu	37	2	220366626	220366626	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220366626G>A	ENST00000358215.3	+	5	665	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.R99Q|GMPPA_ENST00000341142.3_Missense_Mutation_p.R99Q|GMPPA_ENST00000313597.5_Missense_Mutation_p.R99Q|GMPPA_ENST00000373908.1_Missense_Mutation_p.R99Q	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	99					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)	p.R99L(1)|p.R29L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TACCATTTTCGAGACCAGATC	0.582																																						dbGAP											2	Substitution - Missense(2)	prostate(2)											118.0	110.0	113.0					2																	220366626		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.296G>A	2.37:g.220366626G>A	ENSP00000350949:p.Arg99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	pfam_NTP_transferase	p.R99Q	ENST00000358215.3	37	c.296	CCDS2441.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.543842	0.96474	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142;ENST00000373924	D;D;D;D;T;T;D	0.94417	-3.42;-3.42;-3.42;-3.42;-0.7;-0.7;-3.42	4.68	4.68	0.58851	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97421	1.0009	10	0.72032	D	0.01	-9.2338	17.2285	0.86978	0.0:0.0:1.0:0.0	.	99;99	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	Q	99;99;99;99;99;64;99;29	ENSP00000315925:R99Q;ENSP00000363027:R99Q;ENSP00000350949:R99Q;ENSP00000363016:R99Q;ENSP00000392465:R99Q;ENSP00000411060:R64Q;ENSP00000340760:R99Q	ENSP00000315925:R99Q	R	+	2	0	GMPPA	220074870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.715000	0.98748	2.155000	0.67459	0.561000	0.74099	CGA	GMPPA	-	pfam_NTP_transferase	ENSG00000144591		0.582	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPPA	HGNC	protein_coding	OTTHUMT00000130230.1	153	0.00	0	G	NM_013335		220366626	220366626	+1	no_errors	ENST00000313597	ensembl	human	known	69_37n	missense	107	10.00	12	SNP	1.000	A
GMPS	8833	genome.wustl.edu	37	3	155611486	155611486	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:155611486C>G	ENST00000496455.2	+	2	542	c.207C>G	c.(205-207)ttC>ttG	p.F69L	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	69	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AACAAGGATTCCGGTAGACTT	0.363			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	dbGAP		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													53.0	50.0	51.0					3																	155611486		1840	4089	5929	-	-	-	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.207C>G	3.37:g.155611486C>G	ENSP00000419851:p.Phe69Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.F69L	ENST00000496455.2	37	c.207	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366701	0.41902	.	.	ENSG00000163655	ENST00000496455;ENST00000537975;ENST00000541628	D	0.89343	-2.5	5.41	1.55	0.23275	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.064885	0.64402	D	0.000004	T	0.75384	0.3842	N	0.16368	0.405	0.58432	D	0.999994	B	0.10296	0.003	B	0.09377	0.004	T	0.61893	-0.6969	10	0.07030	T	0.85	-12.8353	10.4109	0.44291	0.0:0.6617:0.0:0.3383	.	69	P49915	GUAA_HUMAN	L	69;18;69	ENSP00000419851:F69L	ENSP00000419851:F69L	F	+	3	2	GMPS	157094180	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	1.291000	0.33330	0.254000	0.21573	-0.499000	0.04595	TTC	GMPS	-	pfam_GATASE_1,tigrfam_GMP_synth_N	ENSG00000163655		0.363	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	201	0.00	0	C			155611486	155611486	+1	no_errors	ENST00000496455	ensembl	human	known	69_37n	missense	137	18.45	31	SNP	1.000	G
GMPS	8833	genome.wustl.edu	37	3	155652736	155652736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:155652736G>T	ENST00000496455.2	+	14	2043	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	GMPS_ENST00000295920.7_Nonsense_Mutation_p.E471*	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	570					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	ACCAGTTAAAGAACCTCCTAC	0.383			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	dbGAP		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													156.0	139.0	144.0					3																	155652736		1822	4069	5891	-	-	-	SO:0001587	stop_gained	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1708G>T	3.37:g.155652736G>T	ENSP00000419851:p.Glu570*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K639|B4DXV7|F8W720	Nonsense_Mutation	SNP	pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.E570*	ENST00000496455.2	37	c.1708	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.308153	0.99132	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.3785	19.7731	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	X	570;471;519;570	.	ENSP00000295920:E471X	E	+	1	0	GMPS	157135430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.697000	0.98697	2.665000	0.90641	0.650000	0.86243	GAA	GMPS	-	pfam_GMP_synth_C	ENSG00000163655		0.383	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	392	0.00	0	G			155652736	155652736	+1	no_errors	ENST00000496455	ensembl	human	known	69_37n	nonsense	311	14.33	52	SNP	1.000	T
GNA11	2767	genome.wustl.edu	37	19	3119348	3119348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:3119348G>T	ENST00000078429.4	+	6	1122	c.880G>T	c.(880-882)Gag>Tag	p.E294*	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	294					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTACTTCCCCGAGTTCGATGG	0.637			Mis		uveal melanoma																																	dbGAP		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	0													72.0	61.0	65.0					19																	3119348		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.880G>T	19.37:g.3119348G>T	ENSP00000078429:p.Glu294*	Somatic		WXS	Illumina GAIIx	Phase_IV	O15109|Q14350|Q6IB00	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_GproteinA	p.E294*	ENST00000078429.4	37	c.880	CCDS12103.1	19	.	.	.	.	.	.	.	.	.	.	.	38	6.678277	0.97755	.	.	ENSG00000088256	ENST00000078429	.	.	.	4.12	4.12	0.48240	.	0.344132	0.26915	N	0.021849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9466	0.71035	0.0:0.0:1.0:0.0	.	.	.	.	X	294	.	ENSP00000078429:E294X	E	+	1	0	GNA11	3070348	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.400000	0.73252	1.853000	0.53794	0.478000	0.44815	GAG	GNA11	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000088256		0.637	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA11	HGNC	protein_coding	OTTHUMT00000452261.2	42	0.00	0	G	NM_002067		3119348	3119348	+1	no_errors	ENST00000078429	ensembl	human	known	69_37n	nonsense	13	35.00	7	SNP	1.000	T
GNA13	10672	genome.wustl.edu	37	17	63010887	63010887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:63010887C>A	ENST00000439174.2	-	4	867	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	GNA13_ENST00000541118.1_Nonsense_Mutation_p.E113*	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	208					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AAGTCGTATTCATGGATGCCT	0.368																																						dbGAP											0													73.0	72.0	72.0					17																	63010887		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.622G>T	17.37:g.63010887C>A	ENSP00000400717:p.Glu208*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R977|B7Z7R0|F5H1G8|Q8TD70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12	p.E208*	ENST00000439174.2	37	c.622	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.723776	0.96847	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.135	0.98024	0.0:1.0:0.0:0.0	.	.	.	.	X	208;113;183	.	ENSP00000239138:E183X	E	-	1	0	GNA13	60441349	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.818000	0.86416	2.864000	0.98301	0.549000	0.68633	GAA	GNA13	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000120063		0.368	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	147	0.00	0	C	NM_006572		63010887	63010887	-1	no_errors	ENST00000439174	ensembl	human	known	69_37n	nonsense	78	17.02	16	SNP	1.000	A
GNAI1	2770	genome.wustl.edu	37	7	79846795	79846795	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:79846795T>G	ENST00000351004.3	+	8	1424	c.1051T>G	c.(1051-1053)Tgt>Ggt	p.C351G	GNAI1_ENST00000457358.2_Missense_Mutation_p.C299G	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	351					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TCTAAAAGATTGTGGTCTCTT	0.343																																						dbGAP											0													82.0	79.0	80.0					7																	79846795		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.1051T>G	7.37:g.79846795T>G	ENSP00000343027:p.Cys351Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.C351G	ENST00000351004.3	37	c.1051	CCDS5595.1	7	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580836	0.46006	.	.	ENSG00000127955	ENST00000351004;ENST00000457358	D;D	0.87809	-2.3;-1.75	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.78344	2.41	0.80722	D	1	B	0.28820	0.224	B	0.41466	0.358	D	0.87891	0.2684	9	.	.	.	.	16.3245	0.82970	0.0:0.0:0.0:1.0	.	351	P63096	GNAI1_HUMAN	G	351;299	ENSP00000343027:C351G;ENSP00000410572:C299G	.	C	+	1	0	GNAI1	79684731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.460000	0.39030	TGT	GNAI1	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I	ENSG00000127955		0.343	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI1	HGNC	protein_coding	OTTHUMT00000253254.1	227	0.00	0	T	NM_002069		79846795	79846795	+1	no_errors	ENST00000351004	ensembl	human	known	69_37n	missense	200	19.92	50	SNP	1.000	G
GNAS	2778	genome.wustl.edu	37	20	57485864	57485864	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:57485864C>T	ENST00000371085.3	+	13	1589	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	GNAS_ENST00000371102.4_Missense_Mutation_p.R1018C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R375C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R1032C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R390C|GNAS_ENST00000265620.7_Missense_Mutation_p.R374C|GNAS_ENST00000306090.10_Missense_Mutation_p.R375C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	389					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R389C(1)|p.R1032C(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATGCACCTTCGTCAGTACGA	0.458			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	dbGAP		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	2	Substitution - Missense(2)	endometrium(2)											129.0	93.0	105.0					20																	57485864		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.1165C>T	20.37:g.57485864C>T	ENSP00000360126:p.Arg389Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R390C	ENST00000371085.3	37	c.1168	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837437	0.91117	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	P;D;P;D	0.83275	0.908;0.945;0.87;0.996	D	0.95892	0.8908	10	0.87932	D	0	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	389;390;374;1032	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	1032;1018;375;389;390;374;375;155	ENSP00000360141:R1032C;ENSP00000360143:R1018C;ENSP00000360136:R375C;ENSP00000360126:R389C;ENSP00000346328:R390C;ENSP00000265620:R374C;ENSP00000304472:R375C	ENSP00000265620:R374C	R	+	1	0	GNAS	56919259	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	7.382000	0.79729	2.567000	0.86603	0.467000	0.42956	CGT	GNAS	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000087460		0.458	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	127	0.00	0	C	NM_000516		57485864	57485864	+1	no_errors	ENST00000354359	ensembl	human	known	69_37n	missense	128	11.11	16	SNP	1.000	T
GNAZ	2781	genome.wustl.edu	37	22	23437979	23437979	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:23437979G>A	ENST00000248996.4	+	2	763	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	33					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GCAACGCCGCGAAATCAAGCT	0.602																																						dbGAP											0													73.0	75.0	74.0					22																	23437979		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.97G>A	22.37:g.23437979G>A	ENSP00000248996:p.Glu33Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C1|Q4QRJ6	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E33K	ENST00000248996.4	37	c.97	CCDS13804.1	22	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877424	0.91664	.	.	ENSG00000128266	ENST00000248996	D	0.88586	-2.4	5.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.82323	2.585	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	D	0.87237	0.2264	10	0.72032	D	0.01	.	12.8594	0.57906	0.0791:0.0:0.9209:0.0	.	33	P19086	GNAZ_HUMAN	K	33	ENSP00000248996:E33K	ENSP00000248996:E33K	E	+	1	0	GNAZ	21767979	1.000000	0.71417	0.784000	0.31847	0.966000	0.64601	9.531000	0.98054	1.272000	0.44329	-0.136000	0.14681	GAA	GNAZ	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000128266		0.602	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	HGNC	protein_coding	OTTHUMT00000319073.1	9	0.00	0	G	NM_002073		23437979	23437979	+1	no_errors	ENST00000248996	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.999	A
GNE	10020	genome.wustl.edu	37	9	36234070	36234070	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:36234070G>A	ENST00000539815.1	-	4	869	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	GNE_ENST00000447283.2_Missense_Mutation_p.R277C|GNE_ENST00000543356.2_Missense_Mutation_p.R272C|GNE_ENST00000539208.1_Missense_Mutation_p.R167C|GNE_ENST00000377902.5_Missense_Mutation_p.R277C|GNE_ENST00000396594.3_Missense_Mutation_p.R308C			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	277					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTAACTGCACGAAAGTTGGGA	0.463																																					GBM(184;106 2118 20004 35750 50727)	dbGAP											0			GRCh37	CM086833	GNE	M							170.0	154.0	160.0					9																	36234070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.829C>T	9.37:g.36234070G>A	ENSP00000439155:p.Arg277Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.R308C	ENST00000539815.1	37	c.922	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952169	0.92660	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000486079;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64;-5.64	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99039	0.9671	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.998;0.999;0.999;0.999	P;P;P;P;D	0.65987	0.736;0.804;0.627;0.877;0.94	D	0.99581	1.0973	10	0.39692	T	0.17	-13.2727	17.4853	0.87685	0.0:0.0:1.0:0.0	.	167;236;308;277;277	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	C	277;308;272;277;46;249;167;277	ENSP00000367134:R277C;ENSP00000379839:R308C;ENSP00000439155:R277C;ENSP00000445117:R167C;ENSP00000414760:R277C	ENSP00000340770:R272C	R	-	1	0	GNE	36224070	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	9.029000	0.93718	2.723000	0.93209	0.655000	0.94253	CGT	GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase	ENSG00000159921		0.463	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	203	0.00	0	G	NM_005476		36234070	36234070	-1	no_errors	ENST00000396594	ensembl	human	known	69_37n	missense	188	12.15	26	SNP	1.000	A
GNLY	10578	genome.wustl.edu	37	2	85925788	85925788	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:85925788G>A	ENST00000263863.4	+	0	657				GNLY_ENST00000409696.3_3'UTR|GNLY_ENST00000524600.1_3'UTR	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin						cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TCGCTTCCTCGATCCAGAATC	0.577																																						dbGAP											0													27.0	30.0	29.0					2																	85925788		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"""T-lymphocyte activation gene 519"""	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.*91G>A	2.37:g.85925788G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P09325|Q6GU08	Missense_Mutation	SNP	pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.R160Q	ENST00000263863.4	37	c.479	CCDS1984.1	2	.	.	.	.	.	.	.	.	.	.	G	3.317	-0.139492	0.06669	.	.	ENSG00000115523	ENST00000526018	.	.	.	1.79	-1.36	0.09085	.	.	.	.	.	T	0.28300	0.0699	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28933	-1.0028	4	.	.	.	.	5.8551	0.18714	0.2947:0.0:0.7053:0.0	.	.	.	.	Q	160	.	.	R	+	2	0	GNLY	85779299	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.266000	0.18534	-0.316000	0.08690	0.313000	0.20887	CGA	GNLY	-	NULL	ENSG00000115523		0.577	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNLY	HGNC	protein_coding	OTTHUMT00000252497.1	63	0.00	0	G	NM_006433		85925788	85925788	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000526018	ensembl	human	putative	69_37n	missense	36	30.77	16	SNP	0.000	A
GNPAT	8443	genome.wustl.edu	37	1	231411057	231411057	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:231411057C>T	ENST00000366647.4	+	13	2003	c.1834C>T	c.(1834-1836)Ctc>Ttc	p.L612F	GNPAT_ENST00000469332.1_3'UTR|GNPAT_ENST00000366646.3_Missense_Mutation_p.L551F	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	612					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				AAGTCAGCTTCTCGATCAAGG	0.418																																						dbGAP											0													103.0	96.0	99.0					1																	231411057		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1834C>T	1.37:g.231411057C>T	ENSP00000355607:p.Leu612Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.L612F	ENST00000366647.4	37	c.1834	CCDS1592.1	1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686480	0.29962	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.68181	-0.31;-0.3	4.88	3.95	0.45737	.	0.064350	0.64402	D	0.000005	T	0.59878	0.2226	L	0.59436	1.845	0.54753	D	0.999987	B;P	0.39326	0.43;0.668	B;B	0.38327	0.111;0.271	T	0.56768	-0.7924	10	0.12103	T	0.63	.	13.5947	0.61982	0.0:0.8443:0.1557:0.0	.	551;612	B4DNM9;O15228	.;GNPAT_HUMAN	F	612;551	ENSP00000355607:L612F;ENSP00000355606:L551F	ENSP00000355606:L551F	L	+	1	0	GNPAT	229477680	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.202000	0.58446	1.261000	0.44149	-0.515000	0.04445	CTC	GNPAT	-	NULL	ENSG00000116906		0.418	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNPAT	HGNC	protein_coding	OTTHUMT00000092871.1	318	0.00	0	C			231411057	231411057	+1	no_errors	ENST00000366647	ensembl	human	known	69_37n	missense	373	10.34	43	SNP	1.000	T
GOLGA4	2803	genome.wustl.edu	37	3	37323516	37323516	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37323516G>A	ENST00000361924.2	+	3	604	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GOLGA4_ENST00000435830.2_Intron|GOLGA4_ENST00000444882.1_Missense_Mutation_p.R77Q|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R99Q	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	77					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCTTTGTTTCGAAGTCCGATA	0.473																																						dbGAP											0													85.0	93.0	90.0					3																	37323516		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.230G>A	3.37:g.37323516G>A	ENSP00000354486:p.Arg77Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.R77Q	ENST00000361924.2	37	c.230	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.174855	0.94807	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863	T;T	0.27890	1.64;1.72	5.8	3.96	0.45880	.	0.665977	0.11612	N	0.546609	T	0.52613	0.1745	L	0.54323	1.7	0.49915	D	0.999834	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	P;D;D;D	0.87578	0.768;0.996;0.996;0.998	T	0.43589	-0.9382	10	0.59425	D	0.04	.	14.9827	0.71321	0.0:0.0:0.7267:0.2733	.	77;99;77;99	Q86W71;F8W8Q7;Q13439;E7EVX2	.;.;GOGA4_HUMAN;.	Q	77;77;99;99	ENSP00000354486:R77Q;ENSP00000349305:R99Q	ENSP00000349305:R99Q	R	+	2	0	GOLGA4	37298520	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.265000	0.65519	0.733000	0.32492	-0.274000	0.10170	CGA	GOLGA4	-	NULL	ENSG00000144674		0.473	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	320	0.31	1	G	NM_002078		37323516	37323516	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	missense	185	11.06	23	SNP	1.000	A
GOLGA4	2803	genome.wustl.edu	37	3	37388731	37388731	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37388731G>A	ENST00000361924.2	+	21	6894	c.6520G>A	c.(6520-6522)Gaa>Aaa	p.E2174K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2189K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2174	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAACCTACCGAATTTGAGTA	0.363																																						dbGAP											0													141.0	135.0	137.0					3																	37388731		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6520G>A	3.37:g.37388731G>A	ENSP00000354486:p.Glu2174Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.E2174K	ENST00000361924.2	37	c.6520	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.136606	0.94517	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.55413	0.78;0.52;0.8	5.48	5.48	0.80851	GRIP (5);	0.000000	0.33346	N	0.005012	T	0.72128	0.3422	M	0.68317	2.08	0.46113	D	0.998879	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.95;0.922;0.998	T	0.74297	-0.3711	10	0.72032	D	0.01	.	18.1104	0.89533	0.0:0.0:1.0:0.0	.	2174;2189;2174	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	K	2174;2189;2045	ENSP00000354486:E2174K;ENSP00000349305:E2189K;ENSP00000405842:E2045K	ENSP00000349305:E2189K	E	+	1	0	GOLGA4	37363735	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.013000	0.70776	2.574000	0.86865	0.455000	0.32223	GAA	GOLGA4	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP	ENSG00000144674		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	163	0.00	0	G	NM_002078		37388731	37388731	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	missense	104	30.00	45	SNP	1.000	A
GOLGA6C	653641	genome.wustl.edu	37	15	75562412	75562412	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:75562412G>T	ENST00000300576.5	+	18	1954		c.e18-1		RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C							Golgi apparatus (GO:0005794)				ovary(1)	1						TCTCTCCGAAGATTTTTATGA	0.637																																						dbGAP											0													48.0	45.0	46.0					15																	75562412		684	1577	2261	-	-	-	SO:0001630	splice_region_variant	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.1955-1G>T	15.37:g.75562412G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e18-1	ENST00000300576.5	37	c.1955-1	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	-	5.790	0.330010	0.10956	.	.	ENSG00000167195	ENST00000300576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	GOLGA6C	73349465	0.803000	0.28956	0.021000	0.16686	0.021000	0.10359	2.932000	0.48940	0.259000	0.21709	0.264000	0.19307	.	GOLGA6C	-	-	ENSG00000167195		0.637	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	191	0.00	0	G	NM_001164404	Intron	75562412	75562412	+1	no_errors	ENST00000300576	ensembl	human	known	69_37n	splice_site	97	20.49	25	SNP	0.996	T
GOLGA7B	401647	genome.wustl.edu	37	10	99623939	99623939	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99623939T>G	ENST00000370602.1	+	4	371	c.306T>G	c.(304-306)atT>atG	p.I102M		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	102						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						TCAAGAAGATTTCCCGCTACA	0.577																																						dbGAP											0													77.0	71.0	73.0					10																	99623939		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.306T>G	10.37:g.99623939T>G	ENSP00000359634:p.Ile102Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4F5	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.I102M	ENST00000370602.1	37	c.306	CCDS31265.1	10	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791532	0.31685	.	.	ENSG00000155265	ENST00000370602	.	.	.	5.31	-0.098	0.13630	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.81497	2.545	0.45239	D	0.998246	D	0.62365	0.991	D	0.73380	0.98	T	0.67106	-0.5754	9	0.87932	D	0	-43.0312	5.4546	0.16584	0.1328:0.4413:0.0:0.4259	.	102	Q2TAP0	GOG7B_HUMAN	M	102	.	ENSP00000359634:I102M	I	+	3	3	GOLGA7B	99613929	0.270000	0.24152	0.998000	0.56505	0.064000	0.16182	-0.326000	0.07965	0.092000	0.17331	-0.899000	0.02877	ATT	GOLGA7B	-	pfam_Golgin_A_7/ERF4	ENSG00000155265		0.577	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA7B	HGNC	protein_coding	OTTHUMT00000049752.1	115	0.00	0	T	NM_001010917		99623939	99623939	+1	no_errors	ENST00000370602	ensembl	human	known	69_37n	missense	63	25.58	22	SNP	0.970	G
GOLGB1	2804	genome.wustl.edu	37	3	121410408	121410408	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121410408C>A	ENST00000340645.5	-	14	7913	c.7788G>T	c.(7786-7788)gaG>gaT	p.E2596D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2601D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2596					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AATCTTGTTTCTCTTCTTGTA	0.378																																						dbGAP											0													79.0	83.0	82.0					3																	121410408		2202	4300	6502	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7788G>T	3.37:g.121410408C>A	ENSP00000341848:p.Glu2596Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2596D	ENST00000340645.5	37	c.7788	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	6.530	0.465963	0.12402	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17213	2.29;2.29	5.25	4.24	0.50183	.	0.088452	0.49305	D	0.000150	T	0.32556	0.0833	L	0.59436	1.845	0.45118	D	0.998133	B;D;B	0.71674	0.037;0.998;0.197	B;D;B	0.68353	0.024;0.957;0.188	T	0.02196	-1.1197	10	0.36615	T	0.2	.	9.4902	0.38955	0.0:0.872:0.0:0.128	.	2601;2601;2596	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	D	2596;2601	ENSP00000341848:E2596D;ENSP00000377275:E2601D	ENSP00000341848:E2596D	E	-	3	2	GOLGB1	122893098	0.924000	0.31332	1.000000	0.80357	0.573000	0.36030	0.025000	0.13577	1.180000	0.42898	0.655000	0.94253	GAG	GOLGB1	-	smart_Leu_zip_homeo	ENSG00000173230		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	278	0.36	1	C	NM_004487		121410408	121410408	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	138	10.39	16	SNP	1.000	A
GOLGB1	2804	genome.wustl.edu	37	3	121413478	121413478	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121413478C>A	ENST00000340645.5	-	13	6002	c.5877G>T	c.(5875-5877)aaG>aaT	p.K1959N	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K1964N	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1959					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTAAGGTTCTTCATTTCAG	0.343																																						dbGAP											0													178.0	188.0	184.0					3																	121413478		2203	4299	6502	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5877G>T	3.37:g.121413478C>A	ENSP00000341848:p.Lys1959Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.K1959N	ENST00000340645.5	37	c.5877	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	5.870	0.344712	0.11126	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14144	2.53;2.53	5.73	4.83	0.62350	.	0.454881	0.18729	N	0.132784	T	0.07458	0.0188	N	0.08118	0	0.23555	N	0.997428	B;B;B;B	0.27679	0.152;0.152;0.095;0.185	B;B;B;B	0.21708	0.036;0.036;0.023;0.031	T	0.30357	-0.9981	10	0.33940	T	0.23	.	11.7097	0.51618	0.0:0.9103:0.0:0.0897	.	1884;1964;1964;1959	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	N	1959;1964	ENSP00000341848:K1959N;ENSP00000377275:K1964N	ENSP00000341848:K1959N	K	-	3	2	GOLGB1	122896168	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.884000	0.39668	1.344000	0.45657	0.650000	0.86243	AAG	GOLGB1	-	NULL	ENSG00000173230		0.343	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	446	0.22	1	C	NM_004487		121413478	121413478	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	252	15.72	47	SNP	0.997	A
GOLGB1	2804	genome.wustl.edu	37	3	121415022	121415022	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121415022T>G	ENST00000340645.5	-	13	4458	c.4333A>C	c.(4333-4335)Atg>Ctg	p.M1445L	GOLGB1_ENST00000393667.3_Missense_Mutation_p.M1450L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1445					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTGGCTTGCATTTCTAGCTGT	0.383																																						dbGAP											0													154.0	154.0	154.0					3																	121415022		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4333A>C	3.37:g.121415022T>G	ENSP00000341848:p.Met1445Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.M1445L	ENST00000340645.5	37	c.4333	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	13.02	2.113468	0.37339	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.21031	2.53;2.55;2.03	6.02	4.88	0.63580	.	0.259000	0.35870	N	0.002940	T	0.27832	0.0685	M	0.63428	1.95	0.25902	N	0.98335	B;B;B;B;D	0.53745	0.008;0.008;0.001;0.001;0.962	B;B;B;B;P	0.49361	0.009;0.009;0.006;0.006;0.608	T	0.14090	-1.0485	10	0.30854	T	0.27	.	9.6694	0.40004	0.0:0.0804:0.0:0.9196	.	1370;1409;1450;1450;1445	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	L	1445;1450;1409	ENSP00000341848:M1445L;ENSP00000377275:M1450L;ENSP00000418231:M1409L	ENSP00000341848:M1445L	M	-	1	0	GOLGB1	122897712	0.985000	0.35326	1.000000	0.80357	0.955000	0.61496	1.207000	0.32333	2.311000	0.77944	0.533000	0.62120	ATG	GOLGB1	-	superfamily_Prefoldin	ENSG00000173230		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	262	0.00	0	T	NM_004487		121415022	121415022	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	missense	123	25.00	41	SNP	1.000	G
GOLGB1	2804	genome.wustl.edu	37	3	121417377	121417377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121417377C>A	ENST00000340645.5	-	13	2103	c.1978G>T	c.(1978-1980)Gaa>Taa	p.E660*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E665*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	660					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GATTTCAATTCTACTCCAGCA	0.383																																						dbGAP											0													92.0	94.0	93.0					3																	121417377		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1978G>T	3.37:g.121417377C>A	ENSP00000341848:p.Glu660*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E660*	ENST00000340645.5	37	c.1978	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.82|18.82	3.705055|3.705055	0.68615|0.68615	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	.|.	.|.	.|.	5.19|5.19	4.28|4.28	0.50868|0.50868	.|.	0.282235|.	0.30969|.	N|.	0.008520|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.41790|.	T|.	0.15|.	.|.	7.2324|7.2324	0.26051|0.26051	0.0:0.7379:0.1722:0.0899|0.0:0.7379:0.1722:0.0899	.|.	.|.	.|.	.|.	X|Y	660;665;624;472|530	.|.	ENSP00000341848:E660X|.	E|X	-|-	1|3	0|2	GOLGB1|GOLGB1	122900067|122900067	0.194000|0.194000	0.23325|0.23325	0.537000|0.537000	0.28052|0.28052	0.095000|0.095000	0.18619|0.18619	1.157000|1.157000	0.31724|0.31724	2.704000|2.704000	0.92352|0.92352	0.655000|0.655000	0.94253|0.94253	GAA|TAG	GOLGB1	-	NULL	ENSG00000173230		0.383	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	100	0.00	0	C	NM_004487		121417377	121417377	-1	no_errors	ENST00000340645	ensembl	human	known	69_37n	nonsense	87	17.92	19	SNP	0.766	A
GOLIM4	27333	genome.wustl.edu	37	3	167766125	167766125	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:167766125C>A	ENST00000470487.1	-	2	905	c.216G>T	c.(214-216)gaG>gaT	p.E72D	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E72D	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	72	Golgi targeting.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAAGGATTTCTCTAATCTTG	0.264																																						dbGAP											0													117.0	113.0	114.0					3																	167766125		2198	4296	6494	-	-	-	SO:0001583	missense	0			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.216G>T	3.37:g.167766125C>A	ENSP00000417354:p.Glu72Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E72D	ENST00000470487.1	37	c.216	CCDS3204.1	3	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792466	0.70452	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.07	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.80183	2.485	0.44036	D	0.996761	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.66532	-0.5900	9	0.40728	T	0.16	-19.3962	5.8108	0.18465	0.0:0.3592:0.0:0.6408	.	72;72	F8W785;O00461	.;GOLI4_HUMAN	D	72	.	ENSP00000309893:E72D	E	-	3	2	GOLIM4	169248819	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.690000	0.25451	0.585000	0.29608	0.449000	0.29647	GAG	GOLIM4	-	NULL	ENSG00000173905		0.264	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2	793	0.00	0	C			167766125	167766125	-1	no_errors	ENST00000470487	ensembl	human	known	69_37n	missense	520	24.82	172	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155735158	155735158	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155735158C>T	ENST00000368331.1	-	21	4154	c.4106G>A	c.(4105-4107)gGa>gAa	p.G1369E	GON4L_ENST00000437809.1_Missense_Mutation_p.G1369E|GON4L_ENST00000361040.5_Missense_Mutation_p.G1369E|GON4L_ENST00000271883.5_Missense_Mutation_p.G1369E|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1369					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGTTACTTCTCCAGCACTGCT	0.493																																						dbGAP											0													135.0	132.0	133.0					1																	155735158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4106G>A	1.37:g.155735158C>T	ENSP00000357315:p.Gly1369Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.G1369E	ENST00000368331.1	37	c.4106		1	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197106	0.22037	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.10763	3.05;3.05;3.05;2.84	4.67	1.51	0.23008	.	0.728626	0.13129	N	0.411589	T	0.01558	0.0050	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.15141	0.009;0.007;0.007;0.012	B;B;B;B	0.17098	0.014;0.013;0.008;0.017	T	0.48031	-0.9070	10	0.02654	T	1	.	4.6591	0.12634	0.0:0.5464:0.1847:0.2688	.	1369;565;1369;1369	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	E	1369	ENSP00000396117:G1369E;ENSP00000357315:G1369E;ENSP00000271883:G1369E;ENSP00000354322:G1369E	ENSP00000271883:G1369E	G	-	2	0	GON4L	154001782	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.321000	0.19558	0.580000	0.29522	-0.145000	0.13849	GGA	GON4L	-	NULL	ENSG00000116580		0.493	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		84	0.00	0	C	NM_032292		155735158	155735158	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	57	25.00	19	SNP	0.001	T
GON4L	54856	genome.wustl.edu	37	1	155743018	155743018	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155743018C>A	ENST00000368331.1	-	18	2399				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000361040.5_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000471341.1_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAAATAAATCTCGGATAAAT	0.398																																						dbGAP											0													52.0	52.0	52.0					1																	155743018		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2351-17G>T	1.37:g.155743018C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	SNP	-	NULL	ENST00000368331.1	37	NULL		1																																																																																			GON4L	-	-	ENSG00000116580		0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		316	0.00	0	C	NM_032292		155743018	155743018	-1	no_errors	ENST00000497369	ensembl	human	known	69_37n	rna	220	28.10	86	SNP	0.000	A
GON4L	54856	genome.wustl.edu	37	1	155754071	155754071	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155754071G>T	ENST00000368331.1	-	14	1837				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000361040.5_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000471341.1_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATTATGCCAAGAAAGAAGTCA	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1789-191C>A	1.37:g.155754071G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	RNA	SNP	-	NULL	ENST00000368331.1	37	NULL		1																																																																																			GON4L	-	-	ENSG00000116580		0.373	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		22	0.00	0	G	NM_032292		155754071	155754071	-1	no_errors	ENST00000466224	ensembl	human	known	69_37n	rna	20	16.67	4	SNP	0.011	T
GP1BA	2811	genome.wustl.edu	37	17	4835995	4835995	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:4835995C>A	ENST00000329125.5	+	2	171	c.96C>A	c.(94-96)aaC>aaA	p.N32K		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	32	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAAGTGAACTGTGACAAGA	0.572																																						dbGAP											0													137.0	140.0	139.0					17																	4835995		2170	4270	6440	-	-	-	SO:0001583	missense	0				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.96C>A	17.37:g.4835995C>A	ENSP00000329380:p.Asn32Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N32K	ENST00000329125.5	37	c.96	CCDS54068.1	17	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753493	0.69648	.	.	ENSG00000185245	ENST00000329125;ENST00000438881	D	0.96774	-4.12	4.55	4.55	0.56014	.	0.000000	0.37906	N	0.001883	D	0.97720	0.9252	M	0.81112	2.525	0.41873	D	0.990289	D	0.58620	0.983	D	0.63793	0.918	D	0.98816	1.0745	10	0.87932	D	0	-20.6804	14.7876	0.69816	0.0:1.0:0.0:0.0	.	32	A5CKE2	.	K	32	ENSP00000329380:N32K	ENSP00000329380:N32K	N	+	3	2	GP1BA	4776775	1.000000	0.71417	0.999000	0.59377	0.576000	0.36127	2.517000	0.45529	2.053000	0.61076	0.305000	0.20034	AAC	GP1BA	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000185245		0.572	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1	171	0.00	0	C			4835995	4835995	+1	no_errors	ENST00000329125	ensembl	human	known	69_37n	missense	101	18.55	23	SNP	1.000	A
GOSR1	9527	genome.wustl.edu	37	17	28811269	28811269	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:28811269G>T	ENST00000225724.5	+	3	262	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	GOSR1_ENST00000451249.2_Missense_Mutation_p.D62Y|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.D64Y	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	64					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						ATCAAGCCAAGACAGAATGTT	0.338																																						dbGAP											0													158.0	148.0	151.0					17																	28811269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.190G>T	17.37:g.28811269G>T	ENSP00000225724:p.Asp64Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KST5|O75392	Missense_Mutation	SNP	NULL	p.D64Y	ENST00000225724.5	37	c.190	CCDS11258.1	17	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792299	0.90453	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000427274;ENST00000537788	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.81802	2.56	0.80722	D	1	D;P;D	0.64830	0.99;0.941;0.994	P;P;P	0.60886	0.88;0.668;0.857	T	0.81393	-0.0953	9	0.66056	D	0.02	-15.365	17.9361	0.89012	0.0:0.0:1.0:0.0	.	64;62;64	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	Y	64;62;62;64	.	ENSP00000225724:D64Y	D	+	1	0	GOSR1	25835395	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.998000	0.93550	2.577000	0.86979	0.591000	0.81541	GAC	GOSR1	-	NULL	ENSG00000108587		0.338	GOSR1-001	KNOWN	basic|CCDS	protein_coding	GOSR1	HGNC	protein_coding	OTTHUMT00000256208.2	307	0.00	0	G			28811269	28811269	+1	no_errors	ENST00000225724	ensembl	human	known	69_37n	missense	133	33.17	66	SNP	1.000	T
GP2	2813	genome.wustl.edu	37	16	20331042	20331042	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20331042C>A	ENST00000381362.4	-	7	992	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	GP2_ENST00000341642.5_Missense_Mutation_p.D156Y|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.D159Y|GP2_ENST00000302555.5_Missense_Mutation_p.D303Y	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	306	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGATGAAATCATTGACCAAG	0.428																																						dbGAP											0													453.0	420.0	431.0					16																	20331042		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.916G>T	16.37:g.20331042C>A	ENSP00000370767:p.Asp306Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.D306Y	ENST00000381362.4	37	c.916	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830098	0.32329	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.23	0.986	0.19784	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.86797	0.6019	M	0.64997	1.995	0.09310	N	1	D;D;D;D	0.71674	0.984;0.998;0.986;0.971	P;D;P;P	0.72982	0.891;0.979;0.814;0.903	T	0.74137	-0.3762	9	0.87932	D	0	-3.0579	5.4576	0.16600	0.0:0.5815:0.178:0.2405	.	156;284;303;306	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	Y	303;306;159;156;284	ENSP00000304044:D303Y;ENSP00000370767:D306Y;ENSP00000370765:D159Y;ENSP00000343861:D156Y	ENSP00000304044:D303Y	D	-	1	0	GP2	20238543	0.000000	0.05858	0.005000	0.12908	0.418000	0.31294	-0.278000	0.08490	0.476000	0.27440	0.655000	0.94253	GAT	GP2	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000169347		0.428	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	1010	0.00	0	C	NM_016295		20331042	20331042	-1	no_errors	ENST00000381362	ensembl	human	known	69_37n	missense	451	30.62	199	SNP	0.000	A
GPAM	57678	genome.wustl.edu	37	10	113913346	113913346	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:113913346T>G	ENST00000348367.4	-	22	2646	c.2449A>C	c.(2449-2451)Aaa>Caa	p.K817Q	GPAM_ENST00000423155.1_Missense_Mutation_p.K817Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	817					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCTAGAAGTTTTTGTCGGTTG	0.398																																					Ovarian(161;1017 2606 18293 52943)	dbGAP											0													129.0	134.0	132.0					10																	113913346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2449A>C	10.37:g.113913346T>G	ENSP00000265276:p.Lys817Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW51|Q86TA3	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.K817Q	ENST00000348367.4	37	c.2449	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581747	0.65992	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	T;T	0.72615	-0.67;-0.67	5.29	4.14	0.48551	.	0.056944	0.64402	D	0.000001	T	0.62073	0.2398	L	0.32530	0.975	0.48696	D	0.999696	P	0.48162	0.906	B	0.44224	0.444	T	0.63765	-0.6563	10	0.59425	D	0.04	-18.4628	11.3689	0.49687	0.0:0.0:0.1516:0.8484	.	817	Q9HCL2	GPAT1_HUMAN	Q	817	ENSP00000265276:K817Q;ENSP00000409242:K817Q	ENSP00000265276:K817Q	K	-	1	0	GPAM	113903336	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	5.590000	0.67530	0.939000	0.37446	0.533000	0.62120	AAA	GPAM	-	NULL	ENSG00000119927		0.398	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	371	0.27	1	T	NM_020918		113913346	113913346	-1	no_errors	ENST00000348367	ensembl	human	known	69_37n	missense	203	37.35	121	SNP	0.999	G
GPAM	57678	genome.wustl.edu	37	10	113917023	113917023	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:113917023C>T	ENST00000348367.4	-	19	2302	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	GPAM_ENST00000423155.1_Missense_Mutation_p.R702Q|GPAM_ENST00000369425.1_Missense_Mutation_p.R702Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	702					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GTAGCAATCTCGCTGTTCCTC	0.473																																					Ovarian(161;1017 2606 18293 52943)	dbGAP											0													202.0	175.0	184.0					10																	113917023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2105G>A	10.37:g.113917023C>T	ENSP00000265276:p.Arg702Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VW51|Q86TA3	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.R702Q	ENST00000348367.4	37	c.2105	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803041	0.90623	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.68903	-0.31;-0.31;-0.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72625	0.978;0.968	T	0.73017	-0.4115	10	0.25106	T	0.35	-11.266	18.2342	0.89944	0.0:1.0:0.0:0.0	.	702;702	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	Q	702	ENSP00000265276:R702Q;ENSP00000409242:R702Q;ENSP00000358433:R702Q	ENSP00000265276:R702Q	R	-	2	0	GPAM	113907013	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.912000	0.75753	2.808000	0.96608	0.655000	0.94253	CGA	GPAM	-	NULL	ENSG00000119927		0.473	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	388	0.26	1	C	NM_020918		113917023	113917023	-1	no_errors	ENST00000348367	ensembl	human	known	69_37n	missense	354	11.94	48	SNP	1.000	T
GPAT2	150763	genome.wustl.edu	37	2	96691752	96691752	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96691752G>A	ENST00000434632.1	-	13	1623	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	GPAT2_ENST00000359548.4_Silent_p.I388I|GPAT2_ENST00000453542.1_Silent_p.I317I|GPAT2_ENST00000377137.3_Silent_p.I388I			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	388					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGGCACTGACGATGTATTCCT	0.612																																						dbGAP											0													25.0	26.0	26.0					2																	96691752		1926	4133	6059	-	-	-	SO:0001819	synonymous_variant	0			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1164C>T	2.37:g.96691752G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	smart_Acyltransferase	p.I388	ENST00000434632.1	37	c.1164	CCDS42714.1	2																																																																																			GPAT2	-	NULL	ENSG00000186281		0.612	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAT2	HGNC	protein_coding	OTTHUMT00000338786.1	18	0.00	0	G	NM_207328		96691752	96691752	-1	no_errors	ENST00000359548	ensembl	human	known	69_37n	silent	16	27.27	6	SNP	0.002	A
GPATCH1	55094	genome.wustl.edu	37	19	33600889	33600889	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:33600889G>A	ENST00000170564.2	+	11	1866	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	518					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GCGATACGACGAGTTCTTAGT	0.532																																					Pancreas(67;88 1713 4567 18227)	dbGAP											0													68.0	59.0	62.0					19																	33600889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1552G>A	19.37:g.33600889G>A	ENSP00000170564:p.Glu518Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.E518K	ENST00000170564.2	37	c.1552	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	G	4.184	0.032706	0.08101	.	.	ENSG00000076650	ENST00000170564	T	0.28454	1.61	5.74	3.29	0.37713	.	0.707453	0.15169	N	0.276759	T	0.13970	0.0338	N	0.16098	0.37	0.26041	N	0.981606	B	0.12013	0.005	B	0.08055	0.003	T	0.28618	-1.0038	10	0.07030	T	0.85	-3.5234	7.0026	0.24817	0.3208:0.0:0.6792:0.0	.	518	Q9BRR8	GPTC1_HUMAN	K	518	ENSP00000170564:E518K	ENSP00000170564:E518K	E	+	1	0	GPATCH1	38292729	0.017000	0.18338	0.998000	0.56505	0.257000	0.26127	0.463000	0.21972	1.437000	0.47472	0.655000	0.94253	GAG	GPATCH1	-	NULL	ENSG00000076650		0.532	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	56	0.00	0	G	NM_018025		33600889	33600889	+1	no_errors	ENST00000170564	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	0.514	A
GPATCH4	54865	genome.wustl.edu	37	1	156566011	156566011	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156566011C>A	ENST00000497287.1	-	0	454				GPATCH4_ENST00000368232.4_Intron|GPATCH4_ENST00000438976.2_Intron			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4								poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					acactgaattcttgttcagga	0.458																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000497287.1:c.-383G>T	1.37:g.156566011C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	RNA	SNP	-	NULL	ENST00000497287.1	37	NULL		1																																																																																			GPATCH4	-	-	ENSG00000160818		0.458	GPATCH4-006	KNOWN	basic	processed_transcript	GPATCH4	HGNC	protein_coding	OTTHUMT00000081034.2	64	0.00	0	C	NM_017725		156566011	156566011	-1	no_errors	ENST00000497287	ensembl	human	known	69_37n	rna	74	14.94	13	SNP	0.007	A
GPATCH4	54865	genome.wustl.edu	37	1	156566041	156566041	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156566041C>A	ENST00000497287.1	-	6	425		c.e6-1		GPATCH4_ENST00000368232.4_Intron|GPATCH4_ENST00000438976.2_Intron			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4								poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ttttgaggtactagggataca	0.453																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000497287.1:c.413-1G>T	1.37:g.156566041C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Splice_Site	SNP	-	NULL	ENST00000497287.1	37	c.NULL		1																																																																																			GPATCH4	-	-	ENSG00000160818		0.453	GPATCH4-006	KNOWN	basic	processed_transcript	GPATCH4	HGNC	protein_coding	OTTHUMT00000081034.2	61	0.00	0	C	NM_017725	Intron	156566041	156566041	-1	no_errors	ENST00000497287	ensembl	human	known	69_37n	splice_site	47	32.86	23	SNP	0.000	A
GPATCH2	55105	genome.wustl.edu	37	1	217793291	217793291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:217793291C>A	ENST00000366935.3	-	2	717	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	GPATCH2_ENST00000366934.3_Nonsense_Mutation_p.E203*	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	203					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.E203*(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTGGTAAATTCTTGATACTGG	0.403																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											196.0	184.0	188.0					1																	217793291		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.607G>T	1.37:g.217793291C>A	ENSP00000355902:p.Glu203*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Nonsense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E203*	ENST00000366935.3	37	c.607	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.205989	0.97376	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	.	.	.	5.68	5.68	0.88126	.	0.131007	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-22.3686	19.7782	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000355901:E203X	E	-	1	0	GPATCH2	215859914	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	2.691000	0.47010	2.668000	0.90789	0.591000	0.81541	GAA	GPATCH2	-	NULL	ENSG00000092978		0.403	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	358	0.00	0	C	NM_018040		217793291	217793291	-1	no_errors	ENST00000366935	ensembl	human	known	69_37n	nonsense	265	24.93	88	SNP	1.000	A
GPBP1	65056	genome.wustl.edu	37	5	56542137	56542137	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:56542137G>A	ENST00000506184.2	+	7	1594	c.489G>A	c.(487-489)ccG>ccA	p.P163P	GPBP1_ENST00000454432.2_Silent_p.P183P|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000264779.6_Silent_p.P170P|GPBP1_ENST00000538707.1_Silent_p.P170P|GPBP1_ENST00000424459.3_Silent_p.P183P|GPBP1_ENST00000511209.1_Silent_p.P170P			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	163					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AATATCCTCCGAATCCTAAAT	0.358																																						dbGAP											0													71.0	72.0	71.0					5																	56542137		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.489G>A	5.37:g.56542137G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	NULL	p.P183	ENST00000506184.2	37	c.549	CCDS34162.1	5																																																																																			GPBP1	-	NULL	ENSG00000062194		0.358	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	71	0.00	0	G	NM_022913		56542137	56542137	+1	no_errors	ENST00000424459	ensembl	human	known	69_37n	silent	58	10.77	7	SNP	1.000	A
GPBP1L1	60313	genome.wustl.edu	37	1	46095305	46095305	+	Missense_Mutation	SNP	C	C	A	rs76932789		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:46095305C>A	ENST00000290795.3	-	11	2436	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Missense_Mutation_p.E405D			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	405					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GAAGGCAATTCTCATCATTTT	0.443																																						dbGAP											0													174.0	162.0	166.0					1																	46095305		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1215G>T	1.37:g.46095305C>A	ENSP00000290795:p.Glu405Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ10|Q9H751	Missense_Mutation	SNP	NULL	p.E405D	ENST00000290795.3	37	c.1215	CCDS528.1	1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709200	0.68615	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.51817	0.69;0.69	6.16	4.29	0.51040	.	0.045547	0.85682	D	0.000000	T	0.53867	0.1823	L	0.47016	1.485	0.35521	D	0.801482	D	0.64830	0.994	D	0.63283	0.913	T	0.61347	-0.7081	10	0.39692	T	0.17	-17.6964	7.2716	0.26260	0.0:0.6816:0.124:0.1944	.	405	Q9HC44	GPBL1_HUMAN	D	405	ENSP00000290795:E405D;ENSP00000347224:E405D	ENSP00000290795:E405D	E	-	3	2	GPBP1L1	45867892	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.494000	0.35616	0.927000	0.37143	-0.182000	0.12963	GAG	GPBP1L1	-	NULL	ENSG00000159592		0.443	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1	177	0.00	0	C	NM_021639		46095305	46095305	-1	no_errors	ENST00000290795	ensembl	human	known	69_37n	missense	85	18.27	19	SNP	1.000	A
GPC3	2719	genome.wustl.edu	37	X	132887640	132887640	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:132887640G>T	ENST00000370818.3	-	3	1346	c.901C>A	c.(901-903)Ctg>Atg	p.L301M	GPC3_ENST00000394299.2_Missense_Mutation_p.L301M|GPC3_ENST00000543339.1_Missense_Mutation_p.L247M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	301					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAAGGGACAGAATGTATTCT	0.438			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													dbGAP	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													619.0	401.0	475.0					X																	132887640		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.901C>A	X.37:g.132887640G>T	ENSP00000359854:p.Leu301Met	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	pfam_Glypican	p.L301M	ENST00000370818.3	37	c.901	CCDS14638.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.336|7.336	0.620001|0.620001	0.14193|0.14193	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.50277	.|0.75;0.75;0.75	5.7|5.7	2.69|2.69	0.31865|0.31865	.|.	.|0.454968	.|0.25272	.|N	.|0.031865	T|T	0.40862|0.40862	0.1134|0.1134	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P;P;P;P	.|0.51351	.|0.944;0.931;0.727;0.944	.|P;P;P;P	.|0.56163	.|0.793;0.689;0.722;0.793	T|T	0.17107|0.17107	-1.0380|-1.0380	5|10	.|0.40728	.|T	.|0.16	.|.	8.6245|8.6245	0.33881|0.33881	0.1538:0.0:0.6703:0.1758|0.1538:0.0:0.6703:0.1758	.|.	.|285;247;301;301	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	L|M	30|301;301;247	.|ENSP00000359854:L301M;ENSP00000377836:L301M;ENSP00000444222:L247M	.|ENSP00000359854:L301M	F|L	-|-	3|1	2|2	GPC3|GPC3	132715306|132715306	0.000000|0.000000	0.05858|0.05858	0.947000|0.947000	0.38551|0.38551	0.939000|0.939000	0.58152|0.58152	0.397000|0.397000	0.20883|0.20883	0.583000|0.583000	0.29574|0.29574	0.594000|0.594000	0.82650|0.82650	TTC|CTG	GPC3	-	pfam_Glypican	ENSG00000147257		0.438	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	938	0.11	1	G	NM_004484		132887640	132887640	-1	no_errors	ENST00000394299	ensembl	human	known	69_37n	missense	681	14.23	113	SNP	0.011	T
GPC6	10082	genome.wustl.edu	37	13	94197528	94197528	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:94197528G>T	ENST00000377047.4	+	2	788	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	58					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAACACTTAAGAATCTGTCCT	0.388																																						dbGAP											0													127.0	118.0	121.0					13																	94197528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.173G>T	13.37:g.94197528G>T	ENSP00000366246:p.Arg58Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.R58I	ENST00000377047.4	37	c.173	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741323	0.89573	.	.	ENSG00000183098	ENST00000377047	T	0.55052	0.54	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000004	T	0.74959	0.3785	M	0.80183	2.485	0.51767	D	0.999932	P;D	0.89917	0.814;1.0	P;D	0.79784	0.602;0.993	T	0.78881	-0.2029	10	0.72032	D	0.01	.	18.7207	0.91692	0.0:0.0:1.0:0.0	.	58;58	B4E2M1;Q9Y625	.;GPC6_HUMAN	I	58	ENSP00000366246:R58I	ENSP00000366246:R58I	R	+	2	0	GPC6	92995529	1.000000	0.71417	0.982000	0.44146	0.949000	0.60115	9.173000	0.94815	2.481000	0.83766	0.644000	0.83932	AGA	GPC6	-	pfam_Glypican	ENSG00000183098		0.388	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	415	0.48	2	G	NM_005708		94197528	94197528	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	293	14.08	48	SNP	1.000	T
GPC6	10082	genome.wustl.edu	37	13	94680124	94680124	+	Missense_Mutation	SNP	G	G	A	rs201329039		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:94680124G>A	ENST00000377047.4	+	4	1468	c.853G>A	c.(853-855)Gac>Aac	p.D285N	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	285					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGCTGACCTCGACACAGAGTG	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18501	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													125.0	115.0	118.0					13																	94680124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.853G>A	13.37:g.94680124G>A	ENSP00000366246:p.Asp285Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.D285N	ENST00000377047.4	37	c.853	CCDS9469.1	13	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	24.5	4.533226	0.85812	.	.	ENSG00000183098	ENST00000377047	T	0.58210	0.35	5.79	5.79	0.91817	.	0.060806	0.64402	D	0.000005	T	0.64907	0.2641	L	0.55990	1.75	0.48901	D	0.999725	P;D	0.56035	0.873;0.974	B;P	0.55577	0.395;0.779	T	0.61292	-0.7092	10	0.41790	T	0.15	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	285;285	B4E2M1;Q9Y625	.;GPC6_HUMAN	N	285	ENSP00000366246:D285N	ENSP00000366246:D285N	D	+	1	0	GPC6	93478125	1.000000	0.71417	0.989000	0.46669	0.870000	0.49936	6.750000	0.74888	2.740000	0.93945	0.561000	0.74099	GAC	GPC6	-	pfam_Glypican	ENSG00000183098		0.512	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	218	0.00	0	G	NM_005708		94680124	94680124	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	162	17.26	34	SNP	1.000	A
GPC6	10082	genome.wustl.edu	37	13	95055389	95055389	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:95055389C>A	ENST00000377047.4	+	9	2201	c.1586C>A	c.(1585-1587)tCt>tAt	p.S529Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	529					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GAGGTGGACTCTTCTGCAGCC	0.592																																						dbGAP											0													85.0	81.0	83.0					13																	95055389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1586C>A	13.37:g.95055389C>A	ENSP00000366246:p.Ser529Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.S529Y	ENST00000377047.4	37	c.1586	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136931	0.21123	.	.	ENSG00000183098	ENST00000377047	T	0.54279	0.58	5.84	5.0	0.66597	.	0.419388	0.22107	N	0.064537	T	0.52041	0.1710	M	0.69358	2.11	0.30402	N	0.779976	P	0.34724	0.465	B	0.36766	0.232	T	0.59048	-0.7527	10	0.48119	T	0.1	.	11.0762	0.48032	0.0:0.8586:0.0:0.1414	.	529	Q9Y625	GPC6_HUMAN	Y	529	ENSP00000366246:S529Y	ENSP00000366246:S529Y	S	+	2	0	GPC6	93853390	1.000000	0.71417	0.638000	0.29380	0.025000	0.11179	5.545000	0.67237	1.484000	0.48361	-0.258000	0.10820	TCT	GPC6	-	pfam_Glypican	ENSG00000183098		0.592	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	167	0.00	0	C	NM_005708		95055389	95055389	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	85	24.78	28	SNP	0.685	A
GPER1	2852	genome.wustl.edu	37	7	1132345	1132345	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:1132345C>T	ENST00000297469.3	+	2	1672	c.981C>T	c.(979-981)ctC>ctT	p.L327L	GPER1_ENST00000401670.1_Silent_p.L327L|GPER1_ENST00000397092.1_Silent_p.L327L|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Silent_p.L327L|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	327					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										ACAGCTTTCTCGGGGAGACCT	0.577																																						dbGAP											0													103.0	80.0	88.0					7																	1132345		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.981C>T	7.37:g.1132345C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L327	ENST00000297469.3	37	c.981	CCDS5322.1	7																																																																																			GPER	-	prints_7TM_GPCR_Rhodpsn	ENSG00000164850		0.577	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER	HGNC	protein_coding	OTTHUMT00000060001.1	25	0.00	0	C	NM_001039966		1132345	1132345	+1	no_errors	ENST00000297469	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.011	T
GPHN	10243	genome.wustl.edu	37	14	67243228	67243228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:67243228G>T	ENST00000315266.5	+	3	1311	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	GPHN_ENST00000543237.1_Nonsense_Mutation_p.E64*|GPHN_ENST00000305960.9_Nonsense_Mutation_p.E64*|GPHN_ENST00000459628.1_Nonsense_Mutation_p.E64*|GPHN_ENST00000478722.1_Nonsense_Mutation_p.E64*	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	64	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGATGAAATAGAAGAAATCAA	0.353			T	MLL	AL																																	dbGAP		Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													161.0	161.0	161.0					14																	67243228		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.190G>T	14.37:g.67243228G>T	ENSP00000312771:p.Glu64*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4E9|Q9P2G2	Nonsense_Mutation	SNP	pfam_Mopterin-bd,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd,tigrfam_Mo_cofactor_synthesis	p.E64*	ENST00000315266.5	37	c.190	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	G	38	7.167549	0.98111	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960	.	.	.	5.39	5.39	0.77823	.	0.051613	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.1069	17.6647	0.88200	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000303019:E64X	E	+	1	0	GPHN	66312981	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.811000	0.69187	2.686000	0.91538	0.585000	0.79938	GAA	GPHN	-	pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd,tigrfam_Mo_cofactor_synthesis	ENSG00000171723		0.353	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	312	0.00	0	G	NM_020806		67243228	67243228	+1	no_errors	ENST00000478722	ensembl	human	known	69_37n	nonsense	243	25.00	81	SNP	1.000	T
GPI	2821	genome.wustl.edu	37	19	34872412	34872412	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:34872412C>T	ENST00000356487.5	+	9	1033	c.792C>T	c.(790-792)ttC>ttT	p.F264F	GPI_ENST00000415930.3_Silent_p.F275F|GPI_ENST00000586425.1_Silent_p.F264F	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	264					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AAAACATGTTCGAGTTCTGGG	0.443																																						dbGAP											0													215.0	209.0	211.0					19																	34872412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.792C>T	19.37:g.34872412C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.F275	ENST00000356487.5	37	c.825	CCDS12437.1	19																																																																																			GPI	-	pfam_G6P_Isomerase,prints_G6P_Isomerase	ENSG00000105220		0.443	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	71	0.00	0	C			34872412	34872412	+1	no_errors	ENST00000415930	ensembl	human	known	69_37n	silent	51	13.33	8	SNP	0.997	T
GPKOW	27238	genome.wustl.edu	37	X	48972150	48972150	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48972150C>A	ENST00000156109.5	-	9	1219		c.e9-1			NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CAATTATCATCTGGGGATACA	0.557																																						dbGAP											0													86.0	70.0	76.0					X																	48972150		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1141-1G>T	X.37:g.48972150C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59EK5|Q9BQA8	Splice_Site	SNP	-	e9-1	ENST00000156109.5	37	c.1141-1	CCDS35251.1	X	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722261	0.68959	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8037	0.85620	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPKOW	48859094	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	5.525000	0.67110	2.429000	0.82318	0.507000	0.49892	.	GPKOW	-	-	ENSG00000068394		0.557	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPKOW	HGNC	protein_coding	OTTHUMT00000056535.2	226	0.00	0	C	NM_015698	Intron	48972150	48972150	-1	no_errors	ENST00000156109	ensembl	human	known	69_37n	splice_site	180	25.31	61	SNP	1.000	A
GPLD1	2822	genome.wustl.edu	37	6	24446034	24446034	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:24446034C>T	ENST00000230036.1	-	19	1956	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	616					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTTTTCTCATCTCGGATGTGT	0.527																																						dbGAP											0													108.0	107.0	107.0					6																	24446034		2203	4300	6503	-	-	-	SO:0001583	missense	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1846G>A	6.37:g.24446034C>T	ENSP00000230036:p.Asp616Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.D616N	ENST00000230036.1	37	c.1846	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749717	0.49257	.	.	ENSG00000112293	ENST00000230036	T	0.66280	-0.2	5.49	0.195	0.15151	.	0.829855	0.10882	N	0.623656	T	0.18130	0.0435	L	0.43701	1.375	0.09310	N	0.999999	P	0.36616	0.561	B	0.28139	0.086	T	0.14144	-1.0483	10	0.13470	T	0.59	-1.8275	1.5356	0.02544	0.1223:0.4107:0.1757:0.2913	.	616	P80108	PHLD_HUMAN	N	616	ENSP00000230036:D616N	ENSP00000230036:D616N	D	-	1	0	GPLD1	24554013	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	0.314000	0.19432	-0.308000	0.08792	0.655000	0.94253	GAT	GPLD1	-	smart_Int_alpha_beta-p	ENSG00000112293		0.527	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	147	0.00	0	C	NM_001503		24446034	24446034	-1	no_errors	ENST00000230036	ensembl	human	known	69_37n	missense	146	10.37	17	SNP	0.000	T
GPNMB	10457	genome.wustl.edu	37	7	23300272	23300272	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:23300272A>G	ENST00000381990.2	+	6	1059	c.898A>G	c.(898-900)Aat>Gat	p.N300D	GPNMB_ENST00000539136.1_Missense_Mutation_p.N201D|GPNMB_ENST00000453162.2_Missense_Mutation_p.N242D|GPNMB_ENST00000258733.4_Missense_Mutation_p.N300D	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	300	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TCATACTGTGAATCACACGTA	0.488																																						dbGAP											0													189.0	186.0	187.0					7																	23300272		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.898A>G	7.37:g.23300272A>G	ENSP00000371420:p.Asn300Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.N300D	ENST00000381990.2	37	c.898	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318111	0.60524	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.81	5.81	0.92471	PKD/Chitinase domain (1);PKD domain (4);	0.233607	0.35555	N	0.003130	T	0.70753	0.3260	L	0.60455	1.87	0.32660	N	0.518184	D;D;D;D	0.71674	0.962;0.968;0.986;0.998	P;P;P;D	0.78314	0.723;0.763;0.875;0.991	T	0.78048	-0.2356	10	0.52906	T	0.07	-28.6741	11.8914	0.52630	0.8621:0.0:0.0:0.1379	.	201;242;300;300	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	D	300;335;300;183;201;242	ENSP00000258733:N300D;ENSP00000371420:N300D;ENSP00000445266:N201D;ENSP00000405586:N242D	ENSP00000258733:N300D	N	+	1	0	GPNMB	23266797	1.000000	0.71417	0.934000	0.37439	0.277000	0.26821	3.477000	0.53151	2.216000	0.71823	0.533000	0.62120	AAT	GPNMB	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	ENSG00000136235		0.488	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1	290	0.00	0	A	NM_001005340		23300272	23300272	+1	no_errors	ENST00000381990	ensembl	human	known	69_37n	missense	247	12.72	36	SNP	0.990	G
GPR101	83550	genome.wustl.edu	37	X	136112553	136112553	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:136112553G>A	ENST00000298110.1	-	1	1280	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	427						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGTTTCGACATCCACCC	0.502																																						dbGAP											0													89.0	77.0	81.0					X																	136112553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1281C>T	X.37:g.136112553G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSM8|Q8NG93	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V427	ENST00000298110.1	37	c.1281	CCDS14662.1	X																																																																																			GPR101	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165370		0.502	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	289	0.34	1	G			136112553	136112553	-1	no_errors	ENST00000298110	ensembl	human	known	69_37n	silent	251	10.64	30	SNP	0.950	A
GPR110	266977	genome.wustl.edu	37	6	46977497	46977497	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46977497G>A	ENST00000371253.2	-	11	1889	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	GPR110_ENST00000283297.5_Silent_p.I361I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	558	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGCACGTCACGATGTCTTGAG	0.463																																						dbGAP											0													136.0	116.0	123.0					6																	46977497		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1674C>T	6.37:g.46977497G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.I558	ENST00000371253.2	37	c.1674	CCDS34471.1	6																																																																																			GPR110	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000153292		0.463	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	170	0.00	0	G	NM_153840		46977497	46977497	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	silent	147	26.96	55	SNP	0.000	A
GPR111	222611	genome.wustl.edu	37	6	47649221	47649221	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:47649221C>A	ENST00000296862.1	+	6	926	c.926C>A	c.(925-927)tCt>tAt	p.S309Y	GPR111_ENST00000507065.1_Missense_Mutation_p.S241Y|GPR111_ENST00000398742.2_Missense_Mutation_p.S241Y			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	309					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACTTTTTCTATGAGAATT	0.393																																						dbGAP											0													125.0	118.0	120.0					6																	47649221		1873	4109	5982	-	-	-	SO:0001583	missense	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.926C>A	6.37:g.47649221C>A	ENSP00000296862:p.Ser309Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S309Y	ENST00000296862.1	37	c.926		6	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225727	0.58668	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.39787	1.83;1.81;1.06	5.22	5.22	0.72569	.	0.110355	0.40908	D	0.000994	T	0.50769	0.1635	M	0.64997	1.995	0.34581	D	0.71442	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.959	T	0.57837	-0.7742	10	0.66056	D	0.02	.	12.823	0.57704	0.1633:0.8367:0.0:0.0	.	241;309	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	Y	241;309;241	ENSP00000422934:S241Y;ENSP00000296862:S309Y;ENSP00000381727:S241Y	ENSP00000296862:S309Y	S	+	2	0	GPR111	47757180	0.992000	0.36948	0.659000	0.29680	0.959000	0.62525	3.070000	0.50033	2.451000	0.82905	0.585000	0.79938	TCT	GPR111	-	NULL	ENSG00000164393		0.393	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	171	0.00	0	C	NM_153839		47649221	47649221	+1	no_errors	ENST00000296862	ensembl	human	known	69_37n	missense	121	12.95	18	SNP	0.993	A
GPR112	139378	genome.wustl.edu	37	X	135426899	135426899	+	Missense_Mutation	SNP	C	C	A	rs367726145		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135426899C>A	ENST00000394143.1	+	6	1325	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	GPR112_ENST00000287534.4_Missense_Mutation_p.S282Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S345Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S140Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S140Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	345					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAACGAAATCTCCATCTTCA	0.388																																						dbGAP											0													95.0	86.0	89.0					X																	135426899		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1034C>A	X.37:g.135426899C>A	ENSP00000377699:p.Ser345Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S345Y	ENST00000394143.1	37	c.1034	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	1.372	-0.585685	0.03827	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37584	1.23;1.23;1.19;1.31;1.19	3.3	-2.55	0.06288	.	.	.	.	.	T	0.19167	0.0460	N	0.19112	0.55	0.09310	N	1	B;B;B	0.34241	0.444;0.218;0.139	B;B;B	0.34652	0.187;0.116;0.054	T	0.15752	-1.0426	9	0.49607	T	0.09	.	3.4632	0.07540	0.2317:0.2625:0.0:0.5058	.	282;140;345	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	345;345;140;282;140	ENSP00000377699:S345Y;ENSP00000359686:S345Y;ENSP00000416526:S140Y;ENSP00000287534:S282Y;ENSP00000377697:S140Y	ENSP00000287534:S282Y	S	+	2	0	GPR112	135254565	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.153000	0.10144	-0.792000	0.04480	0.502000	0.49764	TCT	GPR112	-	NULL	ENSG00000156920		0.388	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	1069	0.00	0	C			135426899	135426899	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	539	28.57	216	SNP	0.000	A
GPR112	139378	genome.wustl.edu	37	X	135431992	135431992	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135431992C>A	ENST00000394143.1	+	6	6418	c.6127C>A	c.(6127-6129)Ctg>Atg	p.L2043M	GPR112_ENST00000287534.4_Missense_Mutation_p.L1980M|GPR112_ENST00000370652.1_Missense_Mutation_p.L2043M|GPR112_ENST00000412101.1_Missense_Mutation_p.L1838M|GPR112_ENST00000394141.1_Missense_Mutation_p.L1838M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2043					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCAACATTTCTGACATCTGA	0.468																																						dbGAP											0													204.0	151.0	169.0					X																	135431992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6127C>A	X.37:g.135431992C>A	ENSP00000377699:p.Leu2043Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L2043M	ENST00000394143.1	37	c.6127	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	15.71	2.913367	0.52439	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.31510	1.53;1.53;1.49;1.63;1.49	4.22	-0.265	0.12946	.	.	.	.	.	T	0.29190	0.0726	L	0.27053	0.805	0.09310	N	1	D;P;P	0.64830	0.994;0.597;0.94	P;B;B	0.57776	0.827;0.133;0.36	T	0.15093	-1.0449	9	0.36615	T	0.2	.	4.5648	0.12177	0.5686:0.311:0.0:0.1205	.	1980;1838;2043	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	2043;2043;1838;1980;1838	ENSP00000377699:L2043M;ENSP00000359686:L2043M;ENSP00000416526:L1838M;ENSP00000287534:L1980M;ENSP00000377697:L1838M	ENSP00000287534:L1980M	L	+	1	2	GPR112	135259658	0.130000	0.22417	0.201000	0.23476	0.617000	0.37484	-0.012000	0.12699	0.183000	0.20059	0.592000	0.82586	CTG	GPR112	-	NULL	ENSG00000156920		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	395	0.00	0	C			135431992	135431992	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	207	16.53	41	SNP	0.011	A
GPR112	139378	genome.wustl.edu	37	X	135482172	135482172	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135482172T>G	ENST00000394143.1	+	21	8763	c.8472T>G	c.(8470-8472)ttT>ttG	p.F2824L	GPR112_ENST00000287534.4_Missense_Mutation_p.F2577L|GPR112_ENST00000370652.1_Missense_Mutation_p.F2824L|GPR112_ENST00000412101.1_Missense_Mutation_p.F2619L|GPR112_ENST00000394141.1_Missense_Mutation_p.F2619L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2824					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGTTTCTTTTACTTGGATGG	0.383																																						dbGAP											0													222.0	178.0	193.0					X																	135482172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8472T>G	X.37:g.135482172T>G	ENSP00000377699:p.Phe2824Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F2824L	ENST00000394143.1	37	c.8472	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	T	4.284	0.051977	0.08291	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.1	-4.54	0.03452	GPCR, family 2-like (1);	.	.	.	.	T	0.53158	0.1779	M	0.76574	2.34	0.27769	N	0.94356	B;B	0.21688	0.001;0.059	B;B	0.30495	0.005;0.116	T	0.49781	-0.8903	9	0.11182	T	0.66	.	4.6728	0.12698	0.1407:0.5146:0.1667:0.178	.	2619;2824	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2824;2824;2619;2577;2619	ENSP00000377699:F2824L;ENSP00000359686:F2824L;ENSP00000416526:F2619L;ENSP00000287534:F2577L;ENSP00000377697:F2619L	ENSP00000287534:F2577L	F	+	3	2	GPR112	135309838	0.998000	0.40836	0.374000	0.26016	0.902000	0.53008	0.555000	0.23422	-0.789000	0.04498	-0.309000	0.09137	TTT	GPR112	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000156920		0.383	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	379	0.00	0	T			135482172	135482172	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	305	12.10	42	SNP	0.989	G
GPR112	139378	genome.wustl.edu	37	X	135496377	135496377	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135496377C>A	ENST00000394143.1	+	25	9387	c.9096C>A	c.(9094-9096)atC>atA	p.I3032I	GPR112_ENST00000287534.4_Silent_p.I2751I|GPR112_ENST00000370652.1_Silent_p.I3032I|GPR112_ENST00000412101.1_Silent_p.I2827I|GPR112_ENST00000394141.1_Silent_p.I2827I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3032					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TAAAGAAAATCTTTGAGCACA	0.398																																						dbGAP											0													126.0	126.0	126.0					X																	135496377		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9096C>A	X.37:g.135496377C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I3032	ENST00000394143.1	37	c.9096	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	135	0.00	0	C			135496377	135496377	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	silent	101	17.89	22	SNP	0.000	A
GPR116	221395	genome.wustl.edu	37	6	46826511	46826511	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46826511C>A	ENST00000283296.7	-	17	3417	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	GPR116_ENST00000456426.2_Missense_Mutation_p.K901N|GPR116_ENST00000545669.1_Missense_Mutation_p.K472N|GPR116_ENST00000362015.4_Missense_Mutation_p.K1043N|GPR116_ENST00000265417.7_Missense_Mutation_p.K1043N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1043					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGTCCGGTTCTTGGTCACCG	0.507																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													59.0	58.0	58.0					6																	46826511		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3129G>T	6.37:g.46826511C>A	ENSP00000283296:p.Lys1043Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.K1043N	ENST00000283296.7	37	c.3129	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710561	0.48517	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.61	3.57	0.40892	GPCR, family 2-like (1);	0.087525	0.49305	D	0.000158	T	0.20495	0.0493	L	0.33339	1.005	0.33104	D	0.539553	P;P;P;P;P	0.49447	0.658;0.541;0.924;0.733;0.924	B;P;P;P;P	0.49953	0.382;0.627;0.52;0.493;0.52	T	0.06935	-1.0799	10	0.32370	T	0.25	-24.6399	5.196	0.15239	0.0:0.555:0.1849:0.26	.	472;598;1043;901;1043	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	N	1043;1043;1043;901;414;1043;472	ENSP00000283296:K1043N;ENSP00000354563:K1043N;ENSP00000412866:K901N;ENSP00000265417:K1043N;ENSP00000441581:K472N	ENSP00000265417:K1043N	K	-	3	2	GPR116	46934470	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.570000	0.36439	1.365000	0.46057	0.650000	0.86243	AAG	GPR116	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	138	0.72	1	C	NM_015234		46826511	46826511	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	missense	83	27.19	31	SNP	1.000	A
GPR116	221395	genome.wustl.edu	37	6	46826784	46826784	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46826784C>T	ENST00000283296.7	-	17	3144	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_ENST00000456426.2_Silent_p.T810T|GPR116_ENST00000545669.1_Silent_p.T381T|GPR116_ENST00000362015.4_Silent_p.T952T|GPR116_ENST00000265417.7_Silent_p.T952T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													101.0	90.0	94.0					6																	46826784		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2856G>A	6.37:g.46826784C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.T952	ENST00000283296.7	37	c.2856	CCDS4919.1	6																																																																																			GPR116	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000069122		0.483	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	171	0.00	0	C	NM_015234		46826784	46826784	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	silent	132	18.01	29	SNP	0.000	T
GPR119	139760	genome.wustl.edu	37	X	129518472	129518472	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:129518472C>A	ENST00000276218.2	-	1	1039	c.950G>T	c.(949-951)aGg>aTg	p.R317M		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	317					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TTCCCTGGGCCTCTCTGGGCC	0.537																																						dbGAP											0													92.0	85.0	87.0					X																	129518472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.950G>T	X.37:g.129518472C>A	ENSP00000276218:p.Arg317Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495H7|Q4VBN3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R317M	ENST00000276218.2	37	c.950	CCDS14625.1	X	.	.	.	.	.	.	.	.	.	.	C	1.686	-0.505273	0.04261	.	.	ENSG00000147262	ENST00000276218	T	0.61158	0.13	5.25	-0.15	0.13416	.	2.061540	0.02144	N	0.057473	T	0.39462	0.1079	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.29524	0.103	T	0.19745	-1.0296	10	0.34782	T	0.22	9.1338	4.6615	0.12645	0.1502:0.4418:0.0:0.408	.	317	Q8TDV5	GP119_HUMAN	M	317	ENSP00000276218:R317M	ENSP00000276218:R317M	R	-	2	0	GPR119	129346153	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.075000	0.11431	-0.055000	0.13244	-0.380000	0.06706	AGG	GPR119	-	NULL	ENSG00000147262		0.537	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR119	HGNC	protein_coding	OTTHUMT00000058270.1	120	0.00	0	C	NM_178471		129518472	129518472	-1	no_errors	ENST00000276218	ensembl	human	known	69_37n	missense	52	38.82	33	SNP	0.000	A
GPR12	2835	genome.wustl.edu	37	13	27333170	27333170	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:27333170C>T	ENST00000381436.2	-	1	1257	c.795G>A	c.(793-795)atG>atA	p.M265I	GPR12_ENST00000405846.3_Missense_Mutation_p.M265I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	265					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGGTGAAAGGCATCCAGCAAG	0.572																																						dbGAP											0													105.0	100.0	102.0					13																	27333170		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.795G>A	13.37:g.27333170C>T	ENSP00000370844:p.Met265Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8P3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt,prints_7TM_GPCR_Rhodpsn	p.M265I	ENST00000381436.2	37	c.795	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741908	0.49151	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.71341	-0.56;-0.56	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.038023	0.85682	D	0.000000	T	0.54854	0.1884	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.17098	0.017	T	0.49826	-0.8898	10	0.36615	T	0.2	.	19.0147	0.92889	0.0:1.0:0.0:0.0	.	265	P47775	GPR12_HUMAN	I	265	ENSP00000384932:M265I;ENSP00000370844:M265I	ENSP00000370844:M265I	M	-	3	0	GPR12	26231170	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.855000	0.62925	2.515000	0.84797	0.561000	0.74099	ATG	GPR12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000132975		0.572	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	241	0.00	0	C			27333170	27333170	-1	no_errors	ENST00000381436	ensembl	human	known	69_37n	missense	114	28.57	46	SNP	1.000	T
GPR12	2835	genome.wustl.edu	37	13	27333613	27333613	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:27333613C>T	ENST00000381436.2	-	1	814	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	GPR12_ENST00000405846.3_Missense_Mutation_p.G118S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	118					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.G118S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		ACAATGAGGCCGATCGTGACC	0.542																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											117.0	107.0	110.0					13																	27333613		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.352G>A	13.37:g.27333613C>T	ENSP00000370844:p.Gly118Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8P3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR12_rcpt,prints_7TM_GPCR_Rhodpsn	p.G118S	ENST00000381436.2	37	c.352	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933290	0.92458	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.35789	1.29;1.29	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.47078	1.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.51608	-0.8684	10	0.44086	T	0.13	.	19.0843	0.93196	0.0:1.0:0.0:0.0	.	118	P47775	GPR12_HUMAN	S	118	ENSP00000384932:G118S;ENSP00000370844:G118S	ENSP00000370844:G118S	G	-	1	0	GPR12	26231613	1.000000	0.71417	0.303000	0.25071	0.978000	0.69477	7.685000	0.84117	2.532000	0.85374	0.561000	0.74099	GGC	GPR12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt	ENSG00000132975		0.542	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	94	0.00	0	C			27333613	27333613	-1	no_errors	ENST00000381436	ensembl	human	known	69_37n	missense	43	13.73	7	SNP	1.000	T
GPR128	84873	genome.wustl.edu	37	3	100354654	100354654	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:100354654G>T	ENST00000273352.3	+	5	849	c.581G>T	c.(580-582)aGa>aTa	p.R194I	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	194					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AACACTTCCAGAAATGCTTCA	0.373																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0													66.0	63.0	64.0					3																	100354654		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.581G>T	3.37:g.100354654G>T	ENSP00000273352:p.Arg194Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D94|Q86SQ2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R194I	ENST00000273352.3	37	c.581	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765312	0.49574	.	.	ENSG00000144820	ENST00000273352	T	0.40225	1.04	5.65	-1.67	0.08238	.	1.091900	0.06878	N	0.802053	T	0.41650	0.1168	M	0.63428	1.95	0.09310	N	1	P	0.44578	0.838	B	0.41691	0.364	T	0.49163	-0.8968	10	0.72032	D	0.01	.	9.9824	0.41821	0.545:0.0:0.455:0.0	.	194	Q96K78	GP128_HUMAN	I	194	ENSP00000273352:R194I	ENSP00000273352:R194I	R	+	2	0	GPR128	101837344	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.016000	0.12613	-0.144000	0.11314	-0.218000	0.12543	AGA	GPR128	-	NULL	ENSG00000144820		0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	172	0.00	0	G			100354654	100354654	+1	no_errors	ENST00000273352	ensembl	human	known	69_37n	missense	103	21.37	28	SNP	0.000	T
GPR139	124274	genome.wustl.edu	37	16	20043381	20043381	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20043381G>T	ENST00000570682.1	-	2	1038	c.738C>A	c.(736-738)atC>atA	p.I246I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	246					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAAGAATCATGATGATGCGGG	0.542																																						dbGAP											0													66.0	72.0	70.0					16																	20043381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.738C>A	16.37:g.20043381G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.I246	ENST00000570682.1	37	c.738	CCDS32398.1	16																																																																																			GPR139	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180269		0.542	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	148	0.00	0	G	NM_001002911		20043381	20043381	-1	no_errors	ENST00000570682	ensembl	human	known	69_37n	silent	98	17.65	21	SNP	0.998	T
GPR139	124274	genome.wustl.edu	37	16	20043735	20043735	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:20043735G>T	ENST00000570682.1	-	2	684	c.384C>A	c.(382-384)atC>atA	p.I128I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	128					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAGACAGCGATATACCTGT	0.507																																						dbGAP											0													166.0	131.0	143.0					16																	20043735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.384C>A	16.37:g.20043735G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.I128	ENST00000570682.1	37	c.384	CCDS32398.1	16																																																																																			GPR139	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000180269		0.507	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	201	0.50	1	G	NM_001002911		20043735	20043735	-1	no_errors	ENST00000570682	ensembl	human	known	69_37n	silent	154	12.50	22	SNP	0.932	T
GPR142	350383	genome.wustl.edu	37	17	72366769	72366769	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:72366769C>T	ENST00000335666.4	+	3	516	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	156						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTGTGGCTGGCGTCATCCCTG	0.637																																						dbGAP											0													100.0	85.0	90.0					17																	72366769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.468C>T	17.37:g.72366769C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4CYJ8|Q86SL3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.G156	ENST00000335666.4	37	c.468	CCDS11698.1	17																																																																																			GPR142	-	NULL	ENSG00000257008		0.637	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	108	0.00	0	C	NM_181790		72366769	72366769	+1	no_errors	ENST00000335666	ensembl	human	known	69_37n	silent	44	14.04	8	SNP	0.018	T
GPR151	134391	genome.wustl.edu	37	5	145894851	145894851	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:145894851G>A	ENST00000311104.2	-	1	902	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCTTCAGATGCCATACC	0.507																																					Pancreas(78;420 1386 18535 37114 49710)	dbGAP											0													56.0	59.0	58.0					5																	145894851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.826C>T	5.37:g.145894851G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SN8|Q8NGV2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L276	ENST00000311104.2	37	c.826	CCDS34266.1	5																																																																																			GPR151	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173250		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	HGNC	protein_coding	OTTHUMT00000373457.1	76	0.00	0	G	NM_194251		145894851	145894851	-1	no_errors	ENST00000311104	ensembl	human	known	69_37n	silent	49	20.97	13	SNP	0.106	A
GPR156	165829	genome.wustl.edu	37	3	119962496	119962496	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:119962496C>A	ENST00000464295.1	-	3	669	c.224G>T	c.(223-225)aGg>aTg	p.R75M	GPR156_ENST00000315843.3_Missense_Mutation_p.R75M|GPR156_ENST00000461057.1_Missense_Mutation_p.R75M			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTGTTCTTCCTGCAGTGAAT	0.423																																						dbGAP											0													115.0	103.0	107.0					3																	119962496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.224G>T	3.37:g.119962496C>A	ENSP00000417261:p.Arg75Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.R75M	ENST00000464295.1	37	c.224	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606681	0.66558	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.90385	-2.66;-2.66;-2.66	5.2	4.33	0.51752	GPCR, family 3, C-terminal (2);	0.077057	0.50627	D	0.000108	D	0.95007	0.8384	M	0.87381	2.88	0.49915	D	0.999831	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94746	0.7923	9	.	.	.	-11.7491	9.3728	0.38264	0.0:0.9047:0.0:0.0953	.	75;75	E9PFZ4;Q8NFN8	.;GP156_HUMAN	M	75	ENSP00000417261:R75M;ENSP00000324553:R75M;ENSP00000418758:R75M	.	R	-	2	0	GPR156	121445186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.191000	0.42640	1.440000	0.47531	0.650000	0.86243	AGG	GPR156	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000175697		0.423	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	299	0.00	0	C	NM_153002		119962496	119962496	-1	no_errors	ENST00000315843	ensembl	human	known	69_37n	missense	273	14.42	46	SNP	1.000	A
GPR158	57512	genome.wustl.edu	37	10	25465207	25465207	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:25465207C>A	ENST00000376351.3	+	1	1217	c.858C>A	c.(856-858)tcC>tcA	p.S286S	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	286					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTACTCTTTCCTCTGCCATCT	0.612																																						dbGAP											0													29.0	34.0	32.0					10																	25465207		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.858C>A	10.37:g.25465207C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.S286	ENST00000376351.3	37	c.858	CCDS31166.1	10																																																																																			GPR158	-	NULL	ENSG00000151025		0.612	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	33	0.00	0	C	XM_166110		25465207	25465207	+1	no_errors	ENST00000376351	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.976	A
GPR183	1880	genome.wustl.edu	37	13	99947551	99947551	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:99947551T>C	ENST00000376414.4	-	2	932	c.849A>G	c.(847-849)agA>agG	p.R283R	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	283					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GGAACGAATGTCTTTGGCTAC	0.368																																						dbGAP											0													92.0	88.0	89.0					13																	99947551		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.849A>G	13.37:g.99947551T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.R283	ENST00000376414.4	37	c.849	CCDS9492.1	13																																																																																			GPR183	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169508		0.368	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	HGNC	protein_coding	OTTHUMT00000045582.2	103	0.00	0	T	NM_004951		99947551	99947551	-1	no_errors	ENST00000376414	ensembl	human	known	69_37n	silent	83	14.29	14	SNP	0.000	C
GPR22	2845	genome.wustl.edu	37	7	107115432	107115432	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107115432G>A	ENST00000304402.4	+	3	2270	c.927G>A	c.(925-927)aaG>aaA	p.K309K	COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	309					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AAAGACAAAAGAGAGTCTTCA	0.403																																						dbGAP											0													121.0	124.0	123.0					7																	107115432		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.927G>A	7.37:g.107115432G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14554	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K309	ENST00000304402.4	37	c.927	CCDS5744.1	7																																																																																			GPR22	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172209		0.403	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	HGNC	protein_coding	OTTHUMT00000337598.1	348	0.00	0	G			107115432	107115432	+1	no_errors	ENST00000304402	ensembl	human	known	69_37n	silent	187	11.74	25	SNP	0.965	A
GPR34	2857	genome.wustl.edu	37	X	41555230	41555230	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:41555230T>C	ENST00000378142.4	+	3	628	c.344T>C	c.(343-345)aTt>aCt	p.I115T	CASK_ENST00000442742.2_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.I115T|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378163.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						ATGTATCATATTAACCAAAAC	0.368																																						dbGAP											0													161.0	149.0	153.0					X																	41555230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.344T>C	X.37:g.41555230T>C	ENSP00000367384:p.Ile115Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95853	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.I115T	ENST00000378142.4	37	c.344	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	T	7.557	0.663971	0.14710	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.37915	1.17;1.17	5.96	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.764886	0.12499	N	0.463555	T	0.26195	0.0639	L	0.28274	0.84	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.10268	-1.0637	10	0.33141	T	0.24	-8.7447	9.6139	0.39679	0.0:0.1399:0.0:0.8601	.	115	Q9UPC5	GPR34_HUMAN	T	115;115;68	ENSP00000367384:I115T;ENSP00000367378:I115T	ENSP00000367378:I115T	I	+	2	0	GPR34	41440174	0.055000	0.20627	0.999000	0.59377	0.996000	0.88848	0.946000	0.29069	2.014000	0.59158	0.481000	0.45027	ATT	GPR34	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171659		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	122	0.00	0	T	NM_005300		41555230	41555230	+1	no_errors	ENST00000378138	ensembl	human	known	69_37n	missense	116	14.07	19	SNP	0.023	C
GPR39	2863	genome.wustl.edu	37	2	133402941	133402941	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:133402941G>A	ENST00000329321.3	+	2	1593	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	375					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCGCCTGCGCGTACATGCG	0.647																																						dbGAP											0													49.0	49.0	49.0					2																	133402941		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1124G>A	2.37:g.133402941G>A	ENSP00000327417:p.Arg375His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R375H	ENST00000329321.3	37	c.1124	CCDS2170.1	2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622204	0.66787	.	.	ENSG00000183840	ENST00000329321	T	0.38401	1.14	5.15	5.15	0.70609	.	10.601200	0.00610	N	0.000401	T	0.58666	0.2138	M	0.66939	2.045	0.42892	D	0.994204	D	0.71674	0.998	P	0.57101	0.813	T	0.43877	-0.9364	10	0.72032	D	0.01	.	12.2268	0.54465	0.0774:0.0:0.9226:0.0	.	375	O43194	GPR39_HUMAN	H	375	ENSP00000327417:R375H	ENSP00000327417:R375H	R	+	2	0	GPR39	133119411	0.985000	0.35326	0.805000	0.32314	0.456000	0.32438	2.544000	0.45761	2.692000	0.91855	0.650000	0.86243	CGC	GPR39	-	NULL	ENSG00000183840		0.647	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	49	0.00	0	G			133402941	133402941	+1	no_errors	ENST00000329321	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	0.322	A
GPR64	10149	genome.wustl.edu	37	X	19017178	19017178	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:19017178G>T	ENST00000379869.3	-	26	2713	c.2550C>A	c.(2548-2550)ttC>ttA	p.F850L	GPR64_ENST00000379873.2_Missense_Mutation_p.F850L|GPR64_ENST00000357544.3_Missense_Mutation_p.F820L|GPR64_ENST00000379876.1_Missense_Mutation_p.F826L|GPR64_ENST00000379878.3_Missense_Mutation_p.F834L|GPR64_ENST00000360279.4_Missense_Mutation_p.F828L|GPR64_ENST00000356606.4_Missense_Mutation_p.F836L|GPR64_ENST00000354791.3_Missense_Mutation_p.F834L|GPR64_ENST00000340581.3_Missense_Mutation_p.F731L|GPR64_ENST00000357991.3_Missense_Mutation_p.F847L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	850					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCCAGGCAAAGAAGGCAAAGC	0.433																																						dbGAP											0													157.0	149.0	151.0					X																	19017178		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2550C>A	X.37:g.19017178G>T	ENSP00000369198:p.Phe850Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F850L	ENST00000379869.3	37	c.2550	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426289	0.43020	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.68	3.89	0.44902	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000019	T	0.32346	0.0826	N	0.25789	0.76	0.49915	D	0.999835	B;B;B;B;B;B;B;B;B;B;B	0.30326	0.276;0.02;0.032;0.042;0.042;0.145;0.032;0.058;0.032;0.19;0.071	B;B;B;B;B;B;B;B;B;B;B	0.43018	0.405;0.03;0.045;0.113;0.113;0.071;0.045;0.045;0.045;0.248;0.075	T	0.11542	-1.0583	10	0.30078	T	0.28	.	10.3517	0.43939	0.1964:0.0:0.8036:0.0	.	731;812;820;826;834;850;828;836;847;850;834	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	L	850;834;834;826;820;850;828;847;836;731	ENSP00000369202:F850L;ENSP00000369207:F834L;ENSP00000346845:F834L;ENSP00000369205:F826L;ENSP00000350152:F820L;ENSP00000369198:F850L;ENSP00000353421:F828L;ENSP00000350680:F847L;ENSP00000349015:F836L;ENSP00000344972:F731L	ENSP00000344972:F731L	F	-	3	2	GPR64	18927099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.652000	0.24888	2.384000	0.81235	0.594000	0.82650	TTC	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000173698		0.433	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	125	0.00	0	G			19017178	19017178	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	missense	132	11.41	17	SNP	1.000	T
GPR64	10149	genome.wustl.edu	37	X	19021229	19021229	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:19021229C>A	ENST00000379869.3	-	24	2128	c.1965G>T	c.(1963-1965)aaG>aaT	p.K655N	GPR64_ENST00000379873.2_Missense_Mutation_p.K655N|GPR64_ENST00000357544.3_Missense_Mutation_p.K625N|GPR64_ENST00000379876.1_Missense_Mutation_p.K631N|GPR64_ENST00000379878.3_Missense_Mutation_p.K639N|GPR64_ENST00000360279.4_Missense_Mutation_p.K633N|GPR64_ENST00000356606.4_Missense_Mutation_p.K641N|GPR64_ENST00000354791.3_Missense_Mutation_p.K639N|GPR64_ENST00000340581.3_Missense_Mutation_p.K536N|GPR64_ENST00000357991.3_Missense_Mutation_p.K652N	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	655					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCCTCCGGATCTTTCTAAAAG	0.473																																						dbGAP											0													61.0	61.0	61.0					X																	19021229		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1965G>T	X.37:g.19021229C>A	ENSP00000369198:p.Lys655Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K655N	ENST00000379869.3	37	c.1965	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841169	0.51057	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.36	3.34	0.38264	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000038	T	0.55417	0.1919	M	0.65498	2.005	0.48288	D	0.999626	D;P;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.699;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;P;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.542;1.0;0.996;0.996;1.0;1.0;0.997;0.997;0.994;1.0	T	0.56282	-0.8005	10	0.72032	D	0.01	.	4.2791	0.10824	0.0:0.4343:0.0:0.5657	.	536;617;625;631;639;655;633;641;652;655;639	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	N	655;639;639;631;625;655;633;652;641;536	ENSP00000369202:K655N;ENSP00000369207:K639N;ENSP00000346845:K639N;ENSP00000369205:K631N;ENSP00000350152:K625N;ENSP00000369198:K655N;ENSP00000353421:K633N;ENSP00000350680:K652N;ENSP00000349015:K641N;ENSP00000344972:K536N	ENSP00000344972:K536N	K	-	3	2	GPR64	18931150	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	2.398000	0.44486	1.045000	0.40225	-0.245000	0.11935	AAG	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000173698		0.473	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	208	0.00	0	C			19021229	19021229	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	missense	223	12.89	33	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	89979952	89979952	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:89979952G>A	ENST00000405460.2	+	28	6310	c.6214G>A	c.(6214-6216)Gaa>Aaa	p.E2072K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2072	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAGGTCCGAATCTGTCTT	0.373																																						dbGAP											0													71.0	67.0	68.0					5																	89979952		1869	4095	5964	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6214G>A	5.37:g.89979952G>A	ENSP00000384582:p.Glu2072Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E2072K	ENST00000405460.2	37	c.6214	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.206191	0.95033	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.50001	0.76	5.71	5.71	0.89125	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65158	-0.6236	10	0.48119	T	0.1	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	2072	Q8WXG9	GPR98_HUMAN	K	2072	ENSP00000384582:E2072K	ENSP00000296619:E2072K	E	+	1	0	GPR98	90015708	1.000000	0.71417	0.938000	0.37757	0.758000	0.43043	9.553000	0.98118	2.701000	0.92244	0.591000	0.81541	GAA	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	109	0.00	0	G	NM_032119		89979952	89979952	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	88	26.67	32	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90004654	90004654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:90004654G>T	ENST00000405460.2	+	39	8848	c.8752G>T	c.(8752-8754)Gaa>Taa	p.E2918*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2918	Calx-beta 20. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGCTAGAAGAATATTTCCT	0.338																																						dbGAP											0													155.0	151.0	152.0					5																	90004654		1820	4075	5895	-	-	-	SO:0001587	stop_gained	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8752G>T	5.37:g.90004654G>T	ENSP00000384582:p.Glu2918*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E2918*	ENST00000405460.2	37	c.8752	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	18.205696|18.205696	0.99901|0.99901	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76241	.|0.3960	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74438	.|-0.3665	.|4	0.87932|.	D|.	0|.	.|.	19.5581|19.5581	0.95361|0.95361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	2918|483	.|.	ENSP00000296619:E2918X|.	E|K	+|+	1|3	0|2	GPR98|GPR98	90040410|90040410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.194000|9.194000	0.94962|0.94962	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	GAA|AAG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	490	0.00	0	G	NM_032119		90004654	90004654	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	nonsense	300	11.50	39	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90087051	90087051	+	Missense_Mutation	SNP	G	G	A	rs534266547		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:90087051G>A	ENST00000405460.2	+	70	14501	c.14405G>A	c.(14404-14406)cGa>cAa	p.R4802Q	GPR98_ENST00000425867.2_Missense_Mutation_p.R463Q	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4802					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGGGCTTCGAATATCATCG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		16979	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													51.0	48.0	49.0					5																	90087051		1996	4168	6164	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14405G>A	5.37:g.90087051G>A	ENSP00000384582:p.Arg4802Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4802Q	ENST00000405460.2	37	c.14405	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566868	0.28003	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35789	1.29;1.29	5.9	0.623	0.17654	.	0.565396	0.19055	N	0.123938	T	0.16471	0.0396	L	0.36672	1.1	0.09310	N	1	B;P;B	0.35628	0.07;0.513;0.024	B;B;B	0.15052	0.003;0.012;0.008	T	0.19289	-1.0310	10	0.16420	T	0.52	.	3.6565	0.08222	0.3797:0.0:0.3031:0.3172	.	463;4802;463	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	Q	4802;4802;463	ENSP00000384582:R4802Q;ENSP00000392618:R463Q	ENSP00000296619:R4802Q	R	+	2	0	GPR98	90122807	0.001000	0.12720	0.009000	0.14445	0.649000	0.38597	-0.220000	0.09215	-0.196000	0.10366	0.655000	0.94253	CGA	GPR98	-	NULL	ENSG00000164199		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	148	0.67	1	G	NM_032119		90087051	90087051	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	61	27.38	23	SNP	0.110	A
GPRASP1	9737	genome.wustl.edu	37	X	101908854	101908854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101908854G>T	ENST00000361600.5	+	5	814	c.13G>T	c.(13-15)Gag>Tag	p.E5*	GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E5*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.E5*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E5*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	5					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACTGGGGCAGAGATTGAGTC	0.498																																						dbGAP											0													121.0	128.0	126.0					X																	101908854		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.13G>T	X.37:g.101908854G>T	ENSP00000355146:p.Glu5*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E5*	ENST00000361600.5	37	c.13	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.185977	0.98121	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.18	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.1357	4.279	0.10824	0.203:0.0:0.7969:0.0	.	.	.	.	X	5	.	ENSP00000355146:E5X	E	+	1	0	GPRASP1	101795510	0.995000	0.38212	0.020000	0.16555	0.059000	0.15707	2.501000	0.45389	1.364000	0.46038	0.292000	0.19580	GAG	GPRASP1	-	NULL	ENSG00000198932		0.498	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	262	0.38	1	G	NM_014710		101908854	101908854	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	nonsense	127	28.65	51	SNP	0.385	T
GPRASP1	9737	genome.wustl.edu	37	X	101911385	101911385	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101911385G>T	ENST00000361600.5	+	5	3345	c.2544G>T	c.(2542-2544)tgG>tgT	p.W848C	GPRASP1_ENST00000444152.1_Missense_Mutation_p.W848C|GPRASP1_ENST00000537097.1_Missense_Mutation_p.W848C|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W848C|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	848	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTTCTGGGAAGAAGAGG	0.537																																						dbGAP											0													84.0	89.0	87.0					X																	101911385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2544G>T	X.37:g.101911385G>T	ENSP00000355146:p.Trp848Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.W848C	ENST00000361600.5	37	c.2544	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967580	0.34754	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	2.46	1.55	0.23275	.	.	.	.	.	T	0.32102	0.0818	L	0.54323	1.7	0.33576	D	0.599174	D	0.89917	1.0	D	0.91635	0.999	T	0.40117	-0.9580	9	0.56958	D	0.05	.	8.4131	0.32655	0.0:0.2401:0.7599:0.0	.	848	Q5JY77	GASP1_HUMAN	C	848	ENSP00000393691:W848C;ENSP00000409420:W848C;ENSP00000355146:W848C;ENSP00000445683:W848C	ENSP00000355146:W848C	W	+	3	0	GPRASP1	101798041	0.982000	0.34865	0.977000	0.42913	0.713000	0.41058	1.194000	0.32174	0.445000	0.26639	0.292000	0.19580	TGG	GPRASP1	-	NULL	ENSG00000198932		0.537	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	250	0.00	0	G	NM_014710		101911385	101911385	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	missense	129	31.02	58	SNP	0.998	T
GPRC5C	55890	genome.wustl.edu	37	17	72436270	72436270	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:72436270C>T	ENST00000392627.1	+	2	1616	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	GPRC5C_ENST00000392629.2_Missense_Mutation_p.R131W|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	119					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CTGTGCCTCTCGGCGCTTCCT	0.617																																						dbGAP											0													91.0	96.0	94.0					17																	72436270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.490C>T	17.37:g.72436270C>T	ENSP00000376403:p.Arg164Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R164W	ENST00000392627.1	37	c.490	CCDS11699.1	17	.	.	.	.	.	.	.	.	.	.	C	11.20	1.570019	0.28003	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.90788	-2.73	5.67	4.62	0.57501	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.86268	2.805	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95702	0.8750	10	0.87932	D	0	-7.3376	14.7516	0.69530	0.2264:0.7736:0.0:0.0	.	119;119;131	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	W	119;164;131;119	ENSP00000376405:R131W	ENSP00000340595:R164W	R	+	1	2	GPRC5C	69947865	0.691000	0.27709	0.225000	0.23894	0.995000	0.86356	1.355000	0.34068	2.676000	0.91093	0.561000	0.74099	CGG	GPRC5C	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000170412		0.617	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145094.2	112	0.00	0	C			72436270	72436270	+1	no_errors	ENST00000392627	ensembl	human	known	69_37n	missense	83	10.75	10	SNP	0.902	T
GPRIN3	285513	genome.wustl.edu	37	4	90171230	90171230	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:90171230G>A	ENST00000609438.1	-	2	550	c.32C>T	c.(31-33)gCt>gTt	p.A11V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A11V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	11										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAAGTTTTAGCTGATCTCAG	0.557																																						dbGAP											0													78.0	84.0	82.0					4																	90171230		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.32C>T	4.37:g.90171230G>A	ENSP00000476603:p.Ala11Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVE4	Missense_Mutation	SNP	NULL	p.A11V	ENST00000609438.1	37	c.32	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172494	0.78452	.	.	ENSG00000185477	ENST00000333209	T	0.15372	2.43	5.35	5.35	0.76521	.	0.305366	0.18662	N	0.134696	T	0.29126	0.0724	L	0.27053	0.805	0.32770	N	0.503922	D	0.69078	0.997	P	0.60682	0.878	T	0.13019	-1.0525	10	0.62326	D	0.03	-3.4927	19.2575	0.93951	0.0:0.0:1.0:0.0	.	11	Q6ZVF9	GRIN3_HUMAN	V	11	ENSP00000328672:A11V	ENSP00000328672:A11V	A	-	2	0	GPRIN3	90390253	0.991000	0.36638	0.062000	0.19696	0.221000	0.24807	4.817000	0.62650	2.778000	0.95560	0.650000	0.86243	GCT	GPRIN3	-	NULL	ENSG00000185477		0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	57	0.00	0	G	NM_198281		90171230	90171230	-1	no_errors	ENST00000333209	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.939	A
GRAMD1B	57476	genome.wustl.edu	37	11	123448106	123448106	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:123448106G>A	ENST00000529750.1	+	2	382	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.A19T|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.A19T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	19						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CAGCACGCCGGCCTGCTCGCC	0.632											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													16.0	20.0	19.0					11																	123448106		2111	4221	6332	-	-	-	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.55G>A	11.37:g.123448106G>A	ENSP00000436500:p.Ala19Thr	Somatic	1526	WXS	Illumina GAIIx	Phase_IV	Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.A19T	ENST00000529750.1	37	c.55	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575701	0.65878	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000534764	T;T;T;T	0.31247	1.93;1.9;1.9;1.5	4.92	4.92	0.64577	.	0.057508	0.64402	D	0.000002	T	0.23014	0.0556	N	0.19112	0.55	0.45979	D	0.998795	B;B;B	0.19445	0.036;0.02;0.021	B;B;B	0.23150	0.044;0.007;0.015	T	0.04551	-1.0943	10	0.21014	T	0.42	.	18.1148	0.89549	0.0:0.0:1.0:0.0	.	19;19;19	F5H572;Q3KR37;E7EPH8	.;GRM1B_HUMAN;.	T	19;19;19;19;15	ENSP00000402457:A19T;ENSP00000325628:A19T;ENSP00000436500:A19T;ENSP00000434214:A15T	ENSP00000325628:A19T	A	+	1	0	GRAMD1B	122953316	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.260000	0.65490	2.275000	0.75901	0.462000	0.41574	GCC	GRAMD1B	-	NULL	ENSG00000023171		0.632	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	62	0.00	0	G	XM_370660		123448106	123448106	+1	no_errors	ENST00000322282	ensembl	human	known	69_37n	missense	43	26.67	16	SNP	1.000	A
GRAMD1B	57476	genome.wustl.edu	37	11	123464815	123464815	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:123464815G>T	ENST00000529750.1	+	4	608	c.281G>T	c.(280-282)aGa>aTa	p.R94I	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R101I|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R94I	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	94						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAAGCAGAGAAATGAAGAC	0.527																																						dbGAP											0													97.0	93.0	94.0					11																	123464815		1922	4141	6063	-	-	-	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.281G>T	11.37:g.123464815G>T	ENSP00000436500:p.Arg94Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.R94I	ENST00000529750.1	37	c.281	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.479360	0.96307	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.39406	1.39;1.47;1.47;1.53;1.08	5.59	5.59	0.84812	.	0.104529	0.64402	D	0.000003	T	0.57021	0.2025	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.994	D;D;D;P	0.80764	0.993;0.993;0.994;0.897	T	0.58544	-0.7618	10	0.87932	D	0	.	19.9611	0.97250	0.0:0.0:1.0:0.0	.	54;101;94;101	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	I	101;101;94;94;54;90	ENSP00000402457:R101I;ENSP00000325628:R94I;ENSP00000436500:R94I;ENSP00000432987:R54I;ENSP00000434214:R90I	ENSP00000325628:R94I	R	+	2	0	GRAMD1B	122970025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.795000	0.99099	2.784000	0.95788	0.643000	0.83706	AGA	GRAMD1B	-	NULL	ENSG00000023171		0.527	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	217	0.00	0	G	XM_370660		123464815	123464815	+1	no_errors	ENST00000322282	ensembl	human	known	69_37n	missense	232	10.08	26	SNP	1.000	T
GRAMD1B	57476	genome.wustl.edu	37	11	123464823	123464823	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:123464823G>T	ENST00000529750.1	+	4	616	c.289G>T	c.(289-291)Gac>Tac	p.D97Y	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D104Y|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D97Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	97	GRAM.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAGAAATGAAGACTTCAGAAA	0.542																																						dbGAP											0													100.0	96.0	97.0					11																	123464823		1922	4146	6068	-	-	-	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.289G>T	11.37:g.123464823G>T	ENSP00000436500:p.Asp97Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.D97Y	ENST00000529750.1	37	c.289	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993139	0.93167	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.59	5.59	0.84812	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.998;1.0	D;D;D;D	0.83275	0.996;0.987;0.961;0.992	D	0.93456	0.6806	10	0.87932	D	0	.	19.9611	0.97250	0.0:0.0:1.0:0.0	.	57;104;97;104	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	Y	104;104;97;97;57;93	ENSP00000402457:D104Y;ENSP00000325628:D97Y;ENSP00000436500:D97Y;ENSP00000432987:D57Y;ENSP00000434214:D93Y	ENSP00000325628:D97Y	D	+	1	0	GRAMD1B	122970033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.795000	0.99099	2.784000	0.95788	0.643000	0.83706	GAC	GRAMD1B	-	pfam_GRAM,smart_GRAM	ENSG00000023171		0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	199	0.50	1	G	XM_370660		123464823	123464823	+1	no_errors	ENST00000322282	ensembl	human	known	69_37n	missense	196	20.65	51	SNP	1.000	T
GRAMD1C	54762	genome.wustl.edu	37	3	113664393	113664393	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:113664393G>A	ENST00000358160.4	+	0	2549				GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_3'UTR|GRAMD1C_ENST00000472026.1_3'UTR|ZDHHC23_ENST00000498275.1_5'Flank|RP11-255E6.6_ENST00000609657.1_RNA|GRAMD1C_ENST00000452134.2_3'UTR|ZDHHC23_ENST00000330212.3_5'Flank	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAAACCAGACGAATGAAGGAT	0.318																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.*68G>A	3.37:g.113664393G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	RNA	SNP	-	NULL	ENST00000358160.4	37	NULL	CCDS33826.1	3																																																																																			GRAMD1C	-	-	ENSG00000178075		0.318	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	38	0.00	0	G	NM_017577		113664393	113664393	+1	no_errors	ENST00000479212	ensembl	human	known	69_37n	rna	14	26.32	5	SNP	0.007	A
GRAMD4	23151	genome.wustl.edu	37	22	47033801	47033801	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:47033801G>A	ENST00000406902.1	+	3	440	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R76Q|GRAMD4_ENST00000490378.1_3'UTR			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	76					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAGTTTGATCGACTGAATGAG	0.498																																						dbGAP											0													119.0	114.0	116.0					22																	47033801		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.227G>A	22.37:g.47033801G>A	ENSP00000385689:p.Arg76Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.R76Q	ENST00000406902.1	37	c.227	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743898	0.49151	.	.	ENSG00000075240	ENST00000447351;ENST00000406902;ENST00000361034	T;T	0.52526	0.66;0.66	4.11	4.11	0.48088	.	0.397594	0.21707	N	0.070339	T	0.31040	0.0784	N	0.21448	0.665	0.39023	D	0.959771	B	0.23591	0.088	B	0.10450	0.005	T	0.13602	-1.0503	10	0.07990	T	0.79	-11.3434	15.3651	0.74516	0.0:0.0:1.0:0.0	.	76	Q6IC98	GRAM4_HUMAN	Q	76	ENSP00000385689:R76Q;ENSP00000354313:R76Q	ENSP00000354313:R76Q	R	+	2	0	GRAMD4	45412465	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	6.976000	0.76135	2.042000	0.60477	0.298000	0.19748	CGA	GRAMD4	-	NULL	ENSG00000075240		0.498	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	47	0.00	0	G	NM_015124		47033801	47033801	+1	no_errors	ENST00000361034	ensembl	human	known	69_37n	missense	16	22.73	5	SNP	0.999	A
GRASP	160622	genome.wustl.edu	37	12	52407689	52407689	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:52407689C>T	ENST00000293662.4	+	6	657	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	GRASP_ENST00000380039.2_Missense_Mutation_p.R50W|GRASP_ENST00000552049.1_Missense_Mutation_p.R50W|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	193	Interaction with PSCD3. {ECO:0000250}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GACATCAATTCGGAAGGCAGA	0.537																																						dbGAP											0													171.0	178.0	176.0					12																	52407689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.577C>T	12.37:g.52407689C>T	ENSP00000293662:p.Arg193Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PIF8|Q7Z741	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R193W	ENST00000293662.4	37	c.577	CCDS8817.1	12	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059529	0.55325	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T	0.59906	0.23;0.59	5.1	4.2	0.49525	PDZ/DHR/GLGF (1);	0.056291	0.64402	D	0.000002	T	0.70020	0.3176	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72846	-0.4169	10	0.87932	D	0	-0.1276	12.2741	0.54724	0.1701:0.8299:0.0:0.0	.	50;193	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	W	193;50;63;50	ENSP00000293662:R193W;ENSP00000448476:R63W	ENSP00000293662:R193W	R	+	1	2	GRASP	50693956	0.957000	0.32711	0.934000	0.37439	0.300000	0.27592	1.739000	0.38217	1.360000	0.45960	0.467000	0.42956	CGG	GRASP	-	superfamily_PDZ	ENSG00000161835		0.537	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	91	0.00	0	C			52407689	52407689	+1	no_errors	ENST00000293662	ensembl	human	known	69_37n	missense	35	30.91	17	SNP	0.994	T
GRB10	2887	genome.wustl.edu	37	7	50686924	50686924	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:50686924C>T	ENST00000401949.1	-	9	1189	c.720G>A	c.(718-720)gaG>gaA	p.E240E	GRB10_ENST00000335866.3_Silent_p.E182E|GRB10_ENST00000439599.1_Silent_p.E234E|GRB10_ENST00000402497.1_Silent_p.E182E|GRB10_ENST00000407526.1_Silent_p.E182E|GRB10_ENST00000398812.2_Silent_p.E240E|GRB10_ENST00000357271.5_Silent_p.E240E|GRB10_ENST00000402578.1_Silent_p.E182E|GRB10_ENST00000398810.2_Silent_p.E182E|GRB10_ENST00000403097.1_Silent_p.E234E|GRB10_ENST00000406641.1_Silent_p.E182E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	240	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GAAATTTACTCTCACTGGCCA	0.478									Russell-Silver syndrome																													dbGAP											0													106.0	107.0	107.0					7																	50686924		1943	4143	6086	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.720G>A	7.37:g.50686924C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E240	ENST00000401949.1	37	c.720	CCDS43582.1	7																																																																																			GRB10	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000106070		0.478	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	HGNC	protein_coding	OTTHUMT00000319157.1	170	0.00	0	C			50686924	50686924	-1	no_errors	ENST00000398812	ensembl	human	known	69_37n	silent	95	26.15	34	SNP	0.980	T
GREB1L	80000	genome.wustl.edu	37	18	19096606	19096606	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:19096606G>T	ENST00000580732.2	+	30	5543	c.5162G>T	c.(5161-5163)aGa>aTa	p.R1721I	GREB1L_ENST00000269218.6_Missense_Mutation_p.R1612I|GREB1L_ENST00000424526.1_Missense_Mutation_p.R1721I|GREB1L_ENST00000400483.4_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1721						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						TTTAATCTGAGAACAAACAGT	0.393																																						dbGAP											0													146.0	128.0	133.0					18																	19096606		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.5162G>T	18.37:g.19096606G>T	ENSP00000464162:p.Arg1721Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.R1721I	ENST00000580732.2	37	c.5162	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.279955	0.95489	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.59906	0.23;0.23	5.89	5.89	0.94794	.	.	.	.	.	T	0.78729	0.4329	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79745	-0.1674	9	0.87932	D	0	-1.6353	20.2576	0.98430	0.0:0.0:1.0:0.0	.	1721	Q9C091	GRB1L_HUMAN	I	1721;1612	ENSP00000412060:R1721I;ENSP00000269218:R1612I	ENSP00000269218:R1612I	R	+	2	0	GREB1L	17350604	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.383000	0.97214	2.783000	0.95769	0.655000	0.94253	AGA	GREB1L	-	NULL	ENSG00000141449		0.393	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	140	0.00	0	G	NM_024935		19096606	19096606	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	missense	149	22.68	44	SNP	1.000	T
GRIA2	2891	genome.wustl.edu	37	4	158284072	158284072	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:158284072C>T	ENST00000264426.9	+	15	2807	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	GRIA2_ENST00000507898.1_Missense_Mutation_p.A796V|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Missense_Mutation_p.A796V|GRIA2_ENST00000296526.7_Missense_Mutation_p.A843V|GRIA2_ENST00000449365.1_Missense_Mutation_p.A796V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	843					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A843V(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGGGCCGAGGCGAAACGAATG	0.448																																						dbGAP											2	Substitution - Missense(2)	breast(2)											151.0	135.0	140.0					4																	158284072		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2528C>T	4.37:g.158284072C>T	ENSP00000264426:p.Ala843Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A843V	ENST00000264426.9	37	c.2528	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742519	0.89573	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.14893	2.47;2.47;2.51;2.51;2.47	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;P	0.63957	0.92;0.711;0.833	T	0.22695	-1.0209	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	843;843;796	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	V	796;796;843;843;796	ENSP00000426845:A796V;ENSP00000377403:A796V;ENSP00000296526:A843V;ENSP00000264426:A843V;ENSP00000389837:A796V	ENSP00000264426:A843V	A	+	2	0	GRIA2	158503522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GCG	GRIA2	-	NULL	ENSG00000120251		0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	376	0.00	0	C			158284072	158284072	+1	no_errors	ENST00000264426	ensembl	human	known	69_37n	missense	246	13.38	38	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122387423	122387423	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:122387423G>T	ENST00000371251.1	+	3	560				GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000541091.1_Intron|GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTGCTCTTTAGATATTCATGT	0.373																																						dbGAP											0													45.0	41.0	43.0					X																	122387423		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.508+30G>T	X.37:g.122387423G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	RNA	SNP	-	NULL	ENST00000371251.1	37	NULL	CCDS14604.1	X																																																																																			GRIA3	-	-	ENSG00000125675		0.373	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	92	0.00	0	G	NM_000828		122387423	122387423	+1	no_errors	ENST00000479118	ensembl	human	known	69_37n	rna	65	31.58	30	SNP	0.545	T
GRIA3	2892	genome.wustl.edu	37	X	122460032	122460032	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:122460032G>A	ENST00000371251.1	+	4	716	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	GRIA3_ENST00000371256.5_Missense_Mutation_p.E222K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E206K|GRIA3_ENST00000264357.5_Missense_Mutation_p.E222K|GRIA3_ENST00000542149.1_Missense_Mutation_p.E222K			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	222					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GATTGACTGCGAAGTCGAAAG	0.423																																						dbGAP											0													129.0	110.0	117.0					X																	122460032		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.664G>A	X.37:g.122460032G>A	ENSP00000360297:p.Glu222Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E222K	ENST00000371251.1	37	c.664	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.319588	0.95682	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.66	5.66	0.87406	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.65498	2.005	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.72982	0.922;0.979;0.964	D	0.91009	0.4848	10	0.72032	D	0.01	.	17.5898	0.87992	0.0:0.0:1.0:0.0	.	206;222;222	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	K	222;222;222;222;206	ENSP00000264357:E222K;ENSP00000446146:E222K;ENSP00000360302:E222K;ENSP00000360297:E222K;ENSP00000446440:E206K	ENSP00000264357:E222K	E	+	1	0	GRIA3	122287713	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.444000	0.97578	2.370000	0.80446	0.600000	0.82982	GAA	GRIA3	-	pfam_ANF_lig-bd_rcpt	ENSG00000125675		0.423	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	342	0.00	0	G	NM_000828		122460032	122460032	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	missense	334	10.22	38	SNP	1.000	A
GRIA4	2893	genome.wustl.edu	37	11	105804474	105804474	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:105804474G>T	ENST00000530497.1	+	13	2073	c.2073G>T	c.(2071-2073)aaG>aaT	p.K691N	GRIA4_ENST00000525187.1_Missense_Mutation_p.K691N|AP000673.1_ENST00000583628.1_RNA|GRIA4_ENST00000393127.2_Missense_Mutation_p.K691N|GRIA4_ENST00000282499.5_Missense_Mutation_p.K691N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	691					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGTATGAAAAGATGTGGACCT	0.398																																						dbGAP											0													46.0	41.0	43.0					11																	105804474		2202	4299	6501	-	-	-	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2073G>T	11.37:g.105804474G>T	ENSP00000435775:p.Lys691Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K691N	ENST00000530497.1	37	c.2073	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951426	0.73787	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.27	5.27	0.74061	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000003	T	0.66694	0.2815	M	0.77313	2.365	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.69142	0.962;0.935	T	0.71227	-0.4655	10	0.87932	D	0	.	18.8999	0.92439	0.0:0.0:1.0:0.0	.	691;691	P48058;G3V164	GRIA4_HUMAN;.	N	691	ENSP00000282499:K691N;ENSP00000376835:K691N;ENSP00000435775:K691N;ENSP00000432180:K691N	ENSP00000282499:K691N	K	+	3	2	GRIA4	105309684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.422000	0.52749	2.479000	0.83701	0.591000	0.81541	AAG	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	109	0.00	0	G			105804474	105804474	+1	no_errors	ENST00000282499	ensembl	human	known	69_37n	missense	88	18.52	20	SNP	1.000	T
GRID2	2895	genome.wustl.edu	37	4	94006340	94006340	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:94006340C>T	ENST00000282020.4	+	3	697	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	147					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCTCTCAGTTCGCCCACCTGT	0.478																																						dbGAP											0													98.0	94.0	95.0					4																	94006340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.439C>T	4.37:g.94006340C>T	ENSP00000282020:p.Arg147Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R147C	ENST00000282020.4	37	c.439	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902570	0.72754	.	.	ENSG00000152208	ENST00000282020	D	0.91351	-2.83	5.23	3.46	0.39613	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.92979	0.6404	10	0.72032	D	0.01	.	14.4502	0.67379	0.2687:0.7313:0.0:0.0	.	147;88	O43424;B4DYB9	GRID2_HUMAN;.	C	147	ENSP00000282020:R147C	ENSP00000282020:R147C	R	+	1	0	GRID2	94225363	1.000000	0.71417	0.134000	0.22075	0.938000	0.57974	4.912000	0.63335	0.674000	0.31244	0.655000	0.94253	CGC	GRID2	-	pfam_ANF_lig-bd_rcpt	ENSG00000152208		0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	86	0.00	0	C			94006340	94006340	+1	no_errors	ENST00000282020	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.997	T
GRIK1	2897	genome.wustl.edu	37	21	30927588	30927588	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:30927588G>T	ENST00000399907.1	-	16	2803	c.2392C>A	c.(2392-2394)Ctt>Att	p.L798I	GRIK1_ENST00000399914.1_Missense_Mutation_p.L783I|GRIK1_ENST00000309434.7_Missense_Mutation_p.L800I|GRIK1_ENST00000327783.4_Missense_Mutation_p.L798I|GRIK1_ENST00000389124.2_Missense_Mutation_p.L798I|GRIK1_ENST00000399913.1_Missense_Mutation_p.L798I|GRIK1_ENST00000399909.1_Missense_Mutation_p.L783I|GRIK1_ENST00000389125.3_Missense_Mutation_p.L783I|GRIK1_ENST00000535441.1_Missense_Mutation_p.L800I	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	798					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGGAGTTGAAGAATAGCAATA	0.448																																						dbGAP											0													85.0	88.0	87.0					21																	30927588		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2392C>A	21.37:g.30927588G>T	ENSP00000382791:p.Leu798Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L800I	ENST00000399907.1	37	c.2398	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027972	0.75390	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59;2.59	4.78	4.78	0.61160	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	H	0.94808	3.585	0.80722	D	1	B;B;B;B	0.25235	0.062;0.121;0.105;0.099	P;P;P;B	0.49085	0.6;0.477;0.6;0.345	T	0.58549	-0.7617	10	0.87932	D	0	.	17.9518	0.89056	0.0:0.0:1.0:0.0	.	783;798;798;783	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	I	798;783;798;783;800;659;798;798;783;800	ENSP00000327687:L798I;ENSP00000373777:L783I;ENSP00000382797:L798I;ENSP00000382798:L783I;ENSP00000446326:L800I;ENSP00000373776:L798I;ENSP00000382791:L798I;ENSP00000382793:L783I;ENSP00000311646:L800I	ENSP00000311646:L800I	L	-	1	0	GRIK1	29849459	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.719000	0.84751	2.629000	0.89072	0.650000	0.86243	CTT	GRIK1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000171189		0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	73	0.00	0	G			30927588	30927588	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	45	33.82	23	SNP	1.000	T
GRIK2	2898	genome.wustl.edu	37	6	102134167	102134167	+	Missense_Mutation	SNP	C	C	T	rs61996330	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:102134167C>T	ENST00000421544.1	+	6	1380	c.890C>T	c.(889-891)tCg>tTg	p.S297L	GRIK2_ENST00000369138.1_Missense_Mutation_p.S297L|GRIK2_ENST00000358361.3_Missense_Mutation_p.S297L|GRIK2_ENST00000369134.4_Missense_Mutation_p.S248L|GRIK2_ENST00000413795.1_Missense_Mutation_p.S297L|GRIK2_ENST00000369137.3_Missense_Mutation_p.S297L|GRIK2_ENST00000318991.6_Missense_Mutation_p.S297L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	297					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAAAAGTGGTCGATGGAACGA	0.423																																						dbGAP											0													102.0	102.0	102.0					6																	102134167		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.890C>T	6.37:g.102134167C>T	ENSP00000397026:p.Ser297Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S297L	ENST00000421544.1	37	c.890	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143548	0.77888	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	L	0.35341	1.055	0.58432	D	0.999996	P;P;P	0.44478	0.803;0.836;0.803	B;B;B	0.35813	0.186;0.211;0.186	T	0.74535	-0.3633	10	0.51188	T	0.08	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	297;297;297	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	L	297;297;297;297;297;297;297;248;259	ENSP00000397026:S297L;ENSP00000405596:S297L;ENSP00000358134:S297L;ENSP00000351128:S297L;ENSP00000358133:S297L;ENSP00000313276:S297L;ENSP00000358130:S248L	ENSP00000313276:S297L	S	+	2	0	GRIK2	102240860	1.000000	0.71417	0.965000	0.40720	0.882000	0.50991	7.486000	0.81215	2.760000	0.94817	0.655000	0.94253	TCG	GRIK2	-	pfam_ANF_lig-bd_rcpt	ENSG00000164418		0.423	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	234	0.43	1	C			102134167	102134167	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	missense	151	13.14	23	SNP	1.000	T
GRIN2A	2903	genome.wustl.edu	37	16	9943692	9943692	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:9943692C>T	ENST00000396573.2	-	6	1558	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.V260I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V417I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V417I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V417I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V417I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	417					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V417I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCACGATGACGAATGGGGCC	0.577																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											179.0	141.0	154.0					16																	9943692		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1249G>A	16.37:g.9943692C>T	ENSP00000379818:p.Val417Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V417I	ENST00000396573.2	37	c.1249	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005630	0.93287	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.21191	2.05;2.02;2.09;2.05;2.05	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48169	0.1485	M	0.81614	2.55	0.80722	D	1	D;D;D	0.63880	0.993;0.987;0.992	D;P;P	0.63488	0.915;0.825;0.892	T	0.49679	-0.8914	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	260;417;417	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	417;417;260;417;417	ENSP00000379818:V417I;ENSP00000385872:V417I;ENSP00000441572:V260I;ENSP00000332549:V417I;ENSP00000379820:V417I	.	V	-	1	0	GRIN2A	9851193	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.684000	0.84104	2.430000	0.82344	0.655000	0.94253	GTC	GRIN2A	-	NULL	ENSG00000183454		0.577	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	180	0.00	0	C			9943692	9943692	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	missense	118	15.00	21	SNP	1.000	T
GRIN2C	2905	genome.wustl.edu	37	17	72842324	72842324	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:72842324T>C	ENST00000293190.5	-	11	2377	c.2231A>G	c.(2230-2232)aAg>aGg	p.K744R	GRIN2C_ENST00000347612.4_Missense_Mutation_p.K744R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	744					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGACCAGCTTGCAGCCCTC	0.592																																						dbGAP											0													185.0	130.0	148.0					17																	72842324		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2231A>G	17.37:g.72842324T>C	ENSP00000293190:p.Lys744Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K744R	ENST00000293190.5	37	c.2231	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	T	15.11	2.734674	0.48939	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.54071	0.59	4.45	4.45	0.53987	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.222920	0.44097	D	0.000482	T	0.48537	0.1505	L	0.28054	0.825	0.49915	D	0.99983	B;P	0.38922	0.076;0.651	B;P	0.46339	0.184;0.513	T	0.51957	-0.8639	10	0.49607	T	0.09	.	13.8334	0.63395	0.0:0.0:0.0:1.0	.	778;744	Q8IW23;Q14957	.;NMDE3_HUMAN	R	744;778	ENSP00000293190:K744R	ENSP00000293190:K744R	K	-	2	0	GRIN2C	70353919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.076000	0.71267	1.980000	0.57719	0.459000	0.35465	AAG	GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000161509		0.592	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	55	0.00	0	T			72842324	72842324	-1	no_errors	ENST00000293190	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	1.000	C
GRIP2	80852	genome.wustl.edu	37	3	14558622	14558622	+	RNA	SNP	C	C	T	rs572869583		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:14558622C>T	ENST00000273083.3	-	0	1320							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATTGTAGTTCGAGGACTCAT	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20299	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													73.0	80.0	77.0					3																	14558622		2052	4186	6238	-	-	-			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14558622C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.572	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	246	0.00	0	C	NM_001080423		14558622	14558622	-1	no_errors	ENST00000273083	ensembl	human	known	69_37n	rna	127	28.09	50	SNP	0.984	T
GRIPAP1	56850	genome.wustl.edu	37	X	48834733	48834733	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48834733G>A	ENST00000376441.1	-	22	2079	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S651L|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.S603L|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S637L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	682						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGGAACAGCCGAGCTCTCCTT	0.542																																						dbGAP											0													86.0	71.0	76.0					X																	48834733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2045C>T	X.37:g.48834733G>A	ENSP00000365624:p.Ser682Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S682L	ENST00000376441.1	37	c.2045	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891515	0.52014	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	3.41	3.41	0.39046	.	0.428315	0.21046	U	0.081082	T	0.25901	0.0631	L	0.31926	0.97	0.26586	N	0.973288	D;P;P	0.59357	0.985;0.953;0.456	B;B;B	0.42030	0.373;0.177;0.08	T	0.16012	-1.0417	9	0.87932	D	0	-3.5008	7.978	0.30166	0.0:0.2479:0.752:0.0	.	603;572;682	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	L	651;637;682;651;603	.	ENSP00000365606:S603L	S	-	2	0	GRIPAP1	48719677	0.999000	0.42202	0.797000	0.32132	0.962000	0.63368	4.500000	0.60387	1.563000	0.49615	0.462000	0.41574	TCG	GRIPAP1	-	NULL	ENSG00000068400		0.542	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	733	0.27	2	G	NM_207672		48834733	48834733	-1	no_errors	ENST00000376441	ensembl	human	known	69_37n	missense	556	16.52	110	SNP	0.909	A
GRIPAP1	56850	genome.wustl.edu	37	X	48838217	48838217	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48838217G>A	ENST00000376441.1	-	18	1701	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.A525V|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.A511V	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	556						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTCAGCTCGGCAGCGTGCTG	0.607																																						dbGAP											0													101.0	64.0	77.0					X																	48838217		2198	4293	6491	-	-	-	SO:0001583	missense	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1667C>T	X.37:g.48838217G>A	ENSP00000365624:p.Ala556Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.A556V	ENST00000376441.1	37	c.1667	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	g	11.75	1.731963	0.30684	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291	T	0.54071	0.59	5.29	0.166	0.14999	.	1.020780	0.07818	N	0.959340	T	0.40979	0.1139	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.32481	-0.9905	10	0.40728	T	0.16	3.761	1.3987	0.02266	0.1732:0.1665:0.4114:0.2488	.	446;556	Q4V328-3;Q4V328	.;GRAP1_HUMAN	V	525;511;556;525	ENSP00000365608:A525V	ENSP00000365608:A525V	A	-	2	0	GRIPAP1	48723161	0.000000	0.05858	0.000000	0.03702	0.832000	0.47134	0.516000	0.22817	-0.364000	0.08088	0.597000	0.82753	GCC	GRIPAP1	-	NULL	ENSG00000068400		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	1118	0.00	0	G	NM_207672		48838217	48838217	-1	no_errors	ENST00000376441	ensembl	human	known	69_37n	missense	867	14.93	153	SNP	0.000	A
GRIPAP1	56850	genome.wustl.edu	37	X	48855719	48855719	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48855719C>T	ENST00000376441.1	-	3	144				GRIPAP1_ENST00000376425.3_Intron|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376444.3_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GTTCTGGTGTCGGGAAAGCAG	0.557																																						dbGAP											0													122.0	91.0	102.0					X																	48855719		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.110-8G>A	X.37:g.48855719C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	RNA	SNP	-	NULL	ENST00000376441.1	37	NULL	CCDS35248.1	X																																																																																			GRIPAP1	-	-	ENSG00000068400		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	667	0.30	2	C	NM_207672		48855719	48855719	-1	no_errors	ENST00000480041	ensembl	human	putative	69_37n	rna	562	16.62	112	SNP	0.000	T
GRK5	2869	genome.wustl.edu	37	10	121191016	121191016	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:121191016G>A	ENST00000392870.2	+	8	1044	c.715G>A	c.(715-717)Gag>Aag	p.E239K	GRK5_ENST00000369108.3_Missense_Mutation_p.E134K	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCAGATCCTCGAGAAGGTCAA	0.572																																						dbGAP											0													149.0	104.0	119.0					10																	121191016		2203	4300	6503	-	-	-	SO:0001583	missense	0			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.715G>A	10.37:g.121191016G>A	ENSP00000376609:p.Glu239Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRD0|Q5T059	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E239K	ENST00000392870.2	37	c.715	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485127	0.63962	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.63417	-0.04;-0.04	5.56	4.66	0.58398	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.36799	0.0980	N	0.10837	0.055	0.80722	D	1	P;B	0.47034	0.889;0.395	B;B	0.29267	0.1;0.06	T	0.41088	-0.9528	10	0.46703	T	0.11	-20.8503	14.463	0.67465	0.0704:0.0:0.9296:0.0	.	239;239	B2R7K0;P34947	.;GRK5_HUMAN	K	239;134;134	ENSP00000376609:E239K;ENSP00000358104:E134K	ENSP00000358104:E134K	E	+	1	0	GRK5	121181006	1.000000	0.71417	0.901000	0.35422	0.007000	0.05969	9.827000	0.99397	1.356000	0.45884	-0.140000	0.14226	GAG	GRK5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	ENSG00000198873		0.572	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	111	0.00	0	G	NM_005308		121191016	121191016	+1	no_errors	ENST00000392870	ensembl	human	known	69_37n	missense	77	17.02	16	SNP	1.000	A
GRM5	2915	genome.wustl.edu	37	11	88338063	88338063	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:88338063G>A	ENST00000305447.4	-	4	1366	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	GRM5_ENST00000418177.2_Missense_Mutation_p.S406L|GRM5_ENST00000393297.1_Missense_Mutation_p.S406L|GRM5_ENST00000455756.2_Missense_Mutation_p.S406L|GRM5_ENST00000305432.5_Missense_Mutation_p.S406L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	406					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ATAGGCCATCGAATAGATGGC	0.458																																						dbGAP											0													99.0	85.0	90.0					11																	88338063		2201	4299	6500	-	-	-	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1217C>T	11.37:g.88338063G>A	ENSP00000306138:p.Ser406Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1	p.S406L	ENST00000305447.4	37	c.1217	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.421575	0.96111	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.59	5.59	0.84812	Extracellular ligand-binding receptor (1);	0.050279	0.85682	D	0.000000	T	0.75027	0.3794	L	0.52573	1.65	0.58432	D	0.999991	P;P	0.49862	0.912;0.929	B;B	0.41374	0.285;0.355	T	0.74881	-0.3513	9	.	.	.	.	19.967	0.97274	0.0:0.0:1.0:0.0	.	406;406	P41594-2;P41594	.;GRM5_HUMAN	L	406	ENSP00000402912:S406L;ENSP00000405690:S406L;ENSP00000305905:S406L;ENSP00000306138:S406L;ENSP00000376975:S406L	.	S	-	2	0	GRM5	87977711	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.633000	0.83260	2.798000	0.96311	0.544000	0.68410	TCG	GRM5	-	pfam_ANF_lig-bd_rcpt	ENSG00000168959		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	141	0.70	1	G	NM_000842		88338063	88338063	-1	no_errors	ENST00000305447	ensembl	human	known	69_37n	missense	110	39.89	73	SNP	1.000	A
GRXCR1	389207	genome.wustl.edu	37	4	42964948	42964948	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:42964948T>G	ENST00000399770.2	+	2	424	c.424T>G	c.(424-426)Tat>Gat	p.Y142D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	142	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGTAGTGATTTATACCACCTG	0.368																																						dbGAP											0													166.0	160.0	162.0					4																	42964948		1870	4102	5972	-	-	-	SO:0001583	missense	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.424T>G	4.37:g.42964948T>G	ENSP00000382670:p.Tyr142Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.Y142D	ENST00000399770.2	37	c.424	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163428	0.78226	.	.	ENSG00000215203	ENST00000399770	D	0.86627	-2.15	5.78	5.78	0.91487	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000006	D	0.94771	0.8312	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95729	0.8773	10	0.87932	D	0	-11.3657	15.2809	0.73784	0.0:0.0:0.0:1.0	.	142	A8MXD5	GRCR1_HUMAN	D	142	ENSP00000382670:Y142D	ENSP00000382670:Y142D	Y	+	1	0	GRXCR1	42659705	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.698000	0.84413	2.199000	0.70637	0.533000	0.62120	TAT	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000215203		0.368	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	306	0.00	0	T	NM_001080476		42964948	42964948	+1	no_errors	ENST00000399770	ensembl	human	known	69_37n	missense	178	14.01	29	SNP	1.000	G
GSTCD	79807	genome.wustl.edu	37	4	106640362	106640362	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:106640362A>C	ENST00000515279.1	+	3	792	c.572A>C	c.(571-573)aAt>aCt	p.N191T	GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Missense_Mutation_p.N104T|GSTCD_ENST00000394728.3_Missense_Mutation_p.N191T|GSTCD_ENST00000360505.5_Missense_Mutation_p.N191T|GSTCD_ENST00000394730.3_Missense_Mutation_p.N104T			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	191	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAGTGCATAATGATGATAAA	0.458																																						dbGAP											0													112.0	121.0	118.0					4																	106640362		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.572A>C	4.37:g.106640362A>C	ENSP00000422354:p.Asn191Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.N191T	ENST00000515279.1	37	c.572	CCDS43257.1	4	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834098	0.71373	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	2.71	0.32032	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.86953	2.85	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.76686	-0.2868	9	0.87932	D	0	-19.375	7.2772	0.26292	0.8004:0.0:0.0704:0.1292	.	104;191	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	T	104;104;191;191;191	.	ENSP00000353695:N191T	N	+	2	0	GSTCD	106859811	1.000000	0.71417	0.161000	0.22692	0.986000	0.74619	8.584000	0.90798	0.422000	0.26005	0.528000	0.53228	AAT	GSTCD	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000138780		0.458	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	HGNC	protein_coding	OTTHUMT00000363981.1	221	0.00	0	A	NM_024751		106640362	106640362	+1	no_errors	ENST00000360505	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	0.991	C
GSTK1	373156	genome.wustl.edu	37	7	142962181	142962181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:142962181C>A	ENST00000358406.5	+	4	451	c.380C>A	c.(379-381)tCa>tAa	p.S127*	GSTK1_ENST00000409500.3_Nonsense_Mutation_p.S127*|GSTK1_ENST00000443571.2_Nonsense_Mutation_p.S84*|GSTK1_ENST00000479303.1_Nonsense_Mutation_p.S127*|AC073342.12_ENST00000427392.1_RNA	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	127					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CGCGTCTGGTCAAGGGTGAGT	0.592																																						dbGAP											0													105.0	111.0	109.0					7																	142962181		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.380C>A	7.37:g.142962181C>A	ENSP00000351181:p.Ser127*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Nonsense_Mutation	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.S127*	ENST00000358406.5	37	c.380	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891425	0.91889	.	.	ENSG00000197448	ENST00000436038;ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.68	5.68	0.88126	.	0.240313	0.41194	D	0.000923	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9235	17.3316	0.87265	0.0:1.0:0.0:0.0	.	.	.	.	X	117;127;84;127;127	.	ENSP00000351181:S127X	S	+	2	0	GSTK1	142672303	0.987000	0.35691	0.995000	0.50966	0.963000	0.63663	2.924000	0.48876	2.694000	0.91930	0.555000	0.69702	TCA	GSTK1	-	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	ENSG00000197448		0.592	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	946	0.00	0	C	NM_015917		142962181	142962181	+1	no_errors	ENST00000479303	ensembl	human	known	69_37n	nonsense	456	21.34	124	SNP	1.000	A
GTF2E1	2960	genome.wustl.edu	37	3	120495283	120495283	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:120495283G>A	ENST00000283875.5	+	4	757	c.664G>A	c.(664-666)Gca>Aca	p.A222T		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	222					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGACCATGCAGCAACTACTGC	0.463																																						dbGAP											0													85.0	92.0	90.0					3																	120495283		2203	4300	6503	-	-	-	SO:0001583	missense	0			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.664G>A	3.37:g.120495283G>A	ENSP00000283875:p.Ala222Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16103	Missense_Mutation	SNP	pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu	p.A222T	ENST00000283875.5	37	c.664	CCDS3002.1	3	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606479	0.28623	.	.	ENSG00000153767	ENST00000469772;ENST00000283875	T	0.46451	0.87	4.33	3.44	0.39384	.	0.163887	0.53938	N	0.000051	T	0.24392	0.0591	N	0.17474	0.49	0.54753	D	0.999983	B	0.15930	0.015	B	0.10450	0.005	T	0.04915	-1.0918	10	0.17369	T	0.5	-32.2235	10.6158	0.45449	0.0938:0.0:0.9062:0.0	.	222	P29083	T2EA_HUMAN	T	55;222	ENSP00000283875:A222T	ENSP00000283875:A222T	A	+	1	0	GTF2E1	121977973	1.000000	0.71417	0.997000	0.53966	0.487000	0.33371	5.982000	0.70532	1.105000	0.41606	0.484000	0.47621	GCA	GTF2E1	-	NULL	ENSG00000153767		0.463	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E1	HGNC	protein_coding	OTTHUMT00000356770.1	219	0.00	0	G	NM_005513		120495283	120495283	+1	no_errors	ENST00000283875	ensembl	human	known	69_37n	missense	99	29.58	42	SNP	1.000	A
GTF2E2	2961	genome.wustl.edu	37	8	30436512	30436512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30436512G>A	ENST00000355904.4	-	8	1084	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	268	Arg/Lys-rich (basic).				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTAAAGCGTCGCTTTTTCTGT	0.453																																						dbGAP											0													163.0	156.0	159.0					8																	30436512		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.802C>T	8.37:g.30436512G>A	ENSP00000348168:p.Arg268*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSV2|Q9H2B9	Nonsense_Mutation	SNP	pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu	p.R268*	ENST00000355904.4	37	c.802	CCDS6078.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.199703	0.97371	.	.	ENSG00000197265	ENST00000355904	.	.	.	5.62	2.66	0.31614	.	0.154150	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1608	6.8209	0.23857	0.0815:0.0:0.4988:0.4197	.	.	.	.	X	268	.	ENSP00000348168:R268X	R	-	1	2	GTF2E2	30556054	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	4.482000	0.60257	0.834000	0.34852	-0.182000	0.12963	CGA	GTF2E2	-	pirsf_TFIIE-bsu	ENSG00000197265		0.453	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E2	HGNC	protein_coding	OTTHUMT00000376459.2	317	0.00	0	G	NM_002095		30436512	30436512	-1	no_errors	ENST00000355904	ensembl	human	known	69_37n	nonsense	186	29.17	77	SNP	1.000	A
GTF2F1	2962	genome.wustl.edu	37	19	6381746	6381746	+	Silent	SNP	G	G	A	rs142704916		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6381746G>A	ENST00000394456.5	-	7	1262	c.798C>T	c.(796-798)ttC>ttT	p.F266F	GTF2F1_ENST00000429701.2_Silent_p.F181F|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	266					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTGGCCCTCGAAGTCCCCAT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16241	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													127.0	82.0	97.0					19																	6381746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.798C>T	19.37:g.6381746G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCS0|Q9BWN0	Silent	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.F266	ENST00000394456.5	37	c.798	CCDS12165.1	19																																																																																			GTF2F1	-	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	ENSG00000125651		0.632	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	98	0.00	0	G	NM_002096		6381746	6381746	-1	no_errors	ENST00000394456	ensembl	human	known	69_37n	silent	43	29.51	18	SNP	0.212	A
GTF2F1	2962	genome.wustl.edu	37	19	6381781	6381781	+	Missense_Mutation	SNP	C	C	T	rs201017853	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:6381781C>T	ENST00000394456.5	-	7	1227	c.763G>A	c.(763-765)Gac>Aac	p.D255N	GTF2F1_ENST00000429701.2_Missense_Mutation_p.D170N|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	255					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						AAGGCCTCGTCGTCTGAACCC	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		15883	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													109.0	68.0	82.0					19																	6381781		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.763G>A	19.37:g.6381781C>T	ENSP00000377969:p.Asp255Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.D255N	ENST00000394456.5	37	c.763	CCDS12165.1	19	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	20.2	3.953812	0.73902	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921	T;T	0.47177	0.85;0.85	5.23	5.23	0.72850	.	0.479273	0.21518	N	0.073266	T	0.52338	0.1728	M	0.66939	2.045	0.44439	D	0.997368	D;D;D	0.53151	0.958;0.958;0.958	B;B;B	0.43680	0.427;0.427;0.427	T	0.60161	-0.7317	10	0.59425	D	0.04	-34.0341	17.5713	0.87935	0.0:1.0:0.0:0.0	.	170;153;255	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	N	255;170;315;171	ENSP00000377969:D255N;ENSP00000392107:D170N	ENSP00000377969:D255N	D	-	1	0	GTF2F1	6332781	0.993000	0.37304	0.890000	0.34922	0.720000	0.41350	2.075000	0.41538	2.439000	0.82584	0.655000	0.94253	GAC	GTF2F1	-	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	ENSG00000125651		0.622	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	84	0.00	0	C	NM_002096		6381781	6381781	-1	no_errors	ENST00000394456	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.775	T
GTF2H1	2965	genome.wustl.edu	37	11	18354748	18354748	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18354748A>G	ENST00000265963.4	+	2	287	c.127A>G	c.(127-129)Atc>Gtc	p.I43V	GTF2H1_ENST00000453096.2_Missense_Mutation_p.I43V|GTF2H1_ENST00000531757.1_3'UTR|GTF2H1_ENST00000534641.1_5'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	43					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TAGATTTACAATCAGCCATAT	0.358								Nucleotide excision repair (NER)																														dbGAP											0													100.0	98.0	98.0					11																	18354748		2199	4293	6492	-	-	-	SO:0001583	missense	0				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.127A>G	11.37:g.18354748A>G	ENSP00000265963:p.Ile43Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.I43V	ENST00000265963.4	37	c.127	CCDS7838.1	11	.	.	.	.	.	.	.	.	.	.	A	4.429	0.079299	0.08533	.	.	ENSG00000110768	ENST00000453096;ENST00000525831;ENST00000265963	T;T	0.18502	2.21;2.21	5.58	5.58	0.84498	TFIIH p62 subunit, N-terminal (1);Pleckstrin homology-type (1);	0.099399	0.64402	D	0.000002	T	0.05456	0.0144	N	0.01668	-0.77	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	10	0.02654	T	1	-10.4249	11.6847	0.51479	0.9288:0.0:0.0712:0.0	.	43	P32780	TF2H1_HUMAN	V	43	ENSP00000393638:I43V;ENSP00000265963:I43V	ENSP00000265963:I43V	I	+	1	0	GTF2H1	18311324	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.582000	0.53921	2.116000	0.64780	0.460000	0.39030	ATC	GTF2H1	-	pfam_TFIIH_BTF_p62_N	ENSG00000110768		0.358	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2	173	0.00	0	A	NM_005316		18354748	18354748	+1	no_errors	ENST00000265963	ensembl	human	known	69_37n	missense	128	19.50	31	SNP	0.999	G
GTF2H1	2965	genome.wustl.edu	37	11	18373961	18373961	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18373961G>T	ENST00000265963.4	+	11	1388	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	GTF2H1_ENST00000453096.2_Nonsense_Mutation_p.E410*|GTF2H1_ENST00000526630.2_5'UTR|GTF2H1_ENST00000530496.2_Nonsense_Mutation_p.E98*|GTF2H1_ENST00000534641.1_Nonsense_Mutation_p.E294*	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	410					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TATTAGACAAGAAATGGAAGC	0.398								Nucleotide excision repair (NER)																														dbGAP											0													147.0	148.0	148.0					11																	18373961		2199	4293	6492	-	-	-	SO:0001587	stop_gained	0				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.1228G>T	11.37:g.18373961G>T	ENSP00000265963:p.Glu410*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Nonsense_Mutation	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.E410*	ENST00000265963.4	37	c.1228	CCDS7838.1	11	.	.	.	.	.	.	.	.	.	.	G	40	7.984312	0.98594	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000530496	.	.	.	6.06	6.06	0.98353	.	0.045985	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-26.5655	16.0307	0.80574	0.0:0.1335:0.8665:0.0	.	.	.	.	X	410;294;410;98	.	ENSP00000265963:E410X	E	+	1	0	GTF2H1	18330537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.447000	0.73465	2.882000	0.98803	0.655000	0.94253	GAA	GTF2H1	-	NULL	ENSG00000110768		0.398	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2	102	0.00	0	G	NM_005316		18373961	18373961	+1	no_errors	ENST00000265963	ensembl	human	known	69_37n	nonsense	99	16.10	19	SNP	1.000	T
GTF3C1	2975	genome.wustl.edu	37	16	27494391	27494391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:27494391G>A	ENST00000356183.4	-	26	4072	c.4057C>T	c.(4057-4059)Cga>Tga	p.R1353*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.R1353*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1353					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCACCTCTTCGATTCATGAAA	0.498																																						dbGAP											0													210.0	157.0	175.0					16																	27494391		2197	4300	6497	-	-	-	SO:0001587	stop_gained	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4057C>T	16.37:g.27494391G>A	ENSP00000348510:p.Arg1353*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Nonsense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.R1353*	ENST00000356183.4	37	c.4057	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427190	0.62733	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	.	.	.	5.8	4.81	0.61882	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9694	9.6413	0.39842	0.0:0.13:0.6196:0.2504	.	.	.	.	X	1353;1349	.	ENSP00000348510:R1353X	R	-	1	2	GTF3C1	27401892	0.893000	0.30496	0.751000	0.31187	0.883000	0.51084	2.229000	0.42990	2.735000	0.93741	0.655000	0.94253	CGA	GTF3C1	-	NULL	ENSG00000077235		0.498	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	110	0.00	0	G	NM_001520		27494391	27494391	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	nonsense	130	10.34	15	SNP	0.081	A
GTF3C2	2976	genome.wustl.edu	37	2	27549514	27549514	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27549514C>A	ENST00000359541.2	-	0	3193				GTF3C2_ENST00000264720.3_3'UTR|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCGACTTCACTCCAAGGA	0.592																																						dbGAP											0													40.0	39.0	39.0					2																	27549514		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.*28G>T	2.37:g.27549514C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W557|Q16632|Q9BWI7	Silent	SNP	NULL	p.80	ENST00000359541.2	37	c.238	CCDS1749.1	2																																																																																			GTF3C2	-	NULL	ENSG00000115207		0.592	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	192	0.00	0	C			27549514	27549514	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000431028	ensembl	human	putative	69_37n	silent	163	15.54	30	SNP	1.000	A
GTF3C4	9329	genome.wustl.edu	37	9	135554790	135554790	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135554790C>T	ENST00000372146.4	+	2	2348	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	595					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCTTCAGAAGCCTTGTGGAAA	0.443																																					Pancreas(142;417 1875 11086 31973 47667)	dbGAP											0													144.0	163.0	157.0					9																	135554790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1784C>T	9.37:g.135554790C>T	ENSP00000361219:p.Ala595Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZJ7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.A595V	ENST00000372146.4	37	c.1784	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.161928	0.01673	.	.	ENSG00000125484	ENST00000372146	T	0.44083	0.93	5.91	2.33	0.28932	.	0.747577	0.13525	N	0.381353	T	0.18215	0.0437	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	10	0.10902	T	0.67	-11.888	5.8069	0.18444	0.0:0.4275:0.0:0.5725	.	595	Q9UKN8	TF3C4_HUMAN	V	595	ENSP00000361219:A595V	ENSP00000361219:A595V	A	+	2	0	GTF3C4	134544611	0.308000	0.24509	0.036000	0.18154	0.880000	0.50808	0.939000	0.28978	0.661000	0.30985	0.655000	0.94253	GCC	GTF3C4	-	NULL	ENSG00000125484		0.443	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	148	0.00	0	C			135554790	135554790	+1	no_errors	ENST00000372146	ensembl	human	known	69_37n	missense	72	36.28	41	SNP	0.004	T
GTPBP4	23560	genome.wustl.edu	37	10	1042142	1042142	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:1042142G>T	ENST00000360803.4	+	4	502	c.420G>T	c.(418-420)gtG>gtT	p.V140V	GTPBP4_ENST00000538293.1_Silent_p.V24V|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.V93V	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	140					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGTGCACAGTGATCAAGAGGC	0.537																																						dbGAP											0													117.0	81.0	93.0					10																	1042142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.420G>T	10.37:g.1042142G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.V140	ENST00000360803.4	37	c.420	CCDS31132.1	10																																																																																			GTPBP4	-	NULL	ENSG00000107937		0.537	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	187	0.00	0	G	NM_012341		1042142	1042142	+1	no_errors	ENST00000360803	ensembl	human	known	69_37n	silent	125	21.74	35	SNP	0.196	T
GTPBP4	23560	genome.wustl.edu	37	10	1044978	1044978	+	Silent	SNP	G	G	A	rs567535488		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:1044978G>A	ENST00000360803.4	+	6	679	c.597G>A	c.(595-597)gcG>gcA	p.A199A	GTPBP4_ENST00000538293.1_Silent_p.A83A|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.A152A	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	199	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGCCCTATGCGTTCACAACCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		22599	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													232.0	181.0	198.0					10																	1044978		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.597G>A	10.37:g.1044978G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.A199	ENST00000360803.4	37	c.597	CCDS31132.1	10																																																																																			GTPBP4	-	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	ENSG00000107937		0.423	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	739	0.00	0	G	NM_012341		1044978	1044978	+1	no_errors	ENST00000360803	ensembl	human	known	69_37n	silent	524	10.54	62	SNP	0.957	A
GUCY1A2	2977	genome.wustl.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:106558339G>A	ENST00000526355.2	-	8	2603	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S743L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S733L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	712					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.S712L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TATTCTCGACGAAGAAAGAGA	0.478																																						dbGAP											1	Substitution - Missense(1)	skin(1)											164.0	162.0	163.0					11																	106558339		2201	4298	6499	-	-	-	SO:0001583	missense	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2135C>T	11.37:g.106558339G>A	ENSP00000431245:p.Ser712Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S743L	ENST00000526355.2	37	c.2228	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824109	0.90873	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87571	-1.9;-2.27;-1.9	5.38	5.38	0.77491	.	0.000000	0.38217	U	0.001780	D	0.84942	0.5584	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.63046	0.992;0.991;0.992	P;P;P	0.49561	0.574;0.615;0.574	D	0.84906	0.0845	10	0.39692	T	0.17	.	18.4699	0.90769	0.0:0.0:1.0:0.0	.	733;743;712	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	712;743;733	ENSP00000431245:S712L;ENSP00000282249:S743L;ENSP00000344874:S733L	ENSP00000282249:S743L	S	-	2	0	GUCY1A2	106063549	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.378000	0.79679	2.689000	0.91719	0.305000	0.20034	TCG	GUCY1A2	-	superfamily_A/G_cyclase	ENSG00000152402		0.478	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	251	0.00	0	G			106558339	106558339	-1	no_errors	ENST00000282249	ensembl	human	known	69_37n	missense	185	13.89	30	SNP	1.000	A
GUCY2C	2984	genome.wustl.edu	37	12	14778781	14778781	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:14778781C>T	ENST00000261170.3	-	21	2454	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	773					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCCAGGTTTCGAGAATATAG	0.413																																						dbGAP											0													194.0	171.0	179.0					12																	14778781		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2318G>A	12.37:g.14778781C>T	ENSP00000261170:p.Arg773Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.R773Q	ENST00000261170.3	37	c.2318	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701986	0.88924	.	.	ENSG00000070019	ENST00000261170	T	0.62105	0.05	5.31	5.31	0.75309	.	0.116889	0.56097	D	0.000034	T	0.62146	0.2404	L	0.39514	1.22	0.50171	D	0.999854	D	0.65815	0.995	P	0.55112	0.769	T	0.57991	-0.7715	10	0.30078	T	0.28	.	9.9678	0.41734	0.0:0.8489:0.0:0.1511	.	773	P25092	GUC2C_HUMAN	Q	773	ENSP00000261170:R773Q	ENSP00000261170:R773Q	R	-	2	0	GUCY2C	14670048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.023000	0.57211	2.646000	0.89796	0.563000	0.77884	CGA	GUCY2C	-	NULL	ENSG00000070019		0.413	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	485	0.00	0	C			14778781	14778781	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	missense	342	16.18	66	SNP	0.976	T
GXYLT1	283464	genome.wustl.edu	37	12	42491288	42491288	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:42491288C>T	ENST00000398675.3	-	7	1349	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	GXYLT1_ENST00000280876.6_Missense_Mutation_p.D342N	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	373					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GGTTGCTTATCGTCATGGTAA	0.348																																						dbGAP											0													119.0	112.0	114.0					12																	42491288		1861	4111	5972	-	-	-	SO:0001583	missense	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1117G>A	12.37:g.42491288C>T	ENSP00000381666:p.Asp373Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D373N	ENST00000398675.3	37	c.1117	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619135	0.46736	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.23348	1.91;1.91	5.84	5.84	0.93424	.	0.104418	0.64402	D	0.000001	T	0.21631	0.0521	L	0.51853	1.615	0.50632	D	0.999886	B;B	0.31655	0.334;0.226	B;B	0.24848	0.056;0.025	T	0.03503	-1.1030	10	0.13853	T	0.58	-34.0815	13.3461	0.60573	0.0:0.9281:0.0:0.0719	.	342;373	Q4G148-2;Q4G148	.;GXLT1_HUMAN	N	373;342	ENSP00000381666:D373N;ENSP00000280876:D342N	ENSP00000280876:D342N	D	-	1	0	GXYLT1	40777555	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	3.339000	0.52135	2.758000	0.94735	0.591000	0.81541	GAT	GXYLT1	-	NULL	ENSG00000151233		0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	223	0.00	0	C	XM_290597		42491288	42491288	-1	no_errors	ENST00000398675	ensembl	human	known	69_37n	missense	169	11.92	23	SNP	1.000	T
GXYLT2	727936	genome.wustl.edu	37	3	73004428	73004428	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:73004428C>A	ENST00000389617.4	+	4	941	c.780C>A	c.(778-780)ttC>ttA	p.F260L		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	260					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GGCATCCTTTCTATGGCTCTG	0.458																																						dbGAP											0													59.0	58.0	58.0					3																	73004428		1862	4120	5982	-	-	-	SO:0001583	missense	0			AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.780C>A	3.37:g.73004428C>A	ENSP00000374268:p.Phe260Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_trans_8	p.F260L	ENST00000389617.4	37	c.780	CCDS46870.1	3	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684374	0.68157	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.21031	2.03;2.03	5.33	4.46	0.54185	.	0.149707	0.64402	D	0.000009	T	0.18676	0.0448	L	0.49126	1.545	0.50171	D	0.99985	B	0.32467	0.372	B	0.36030	0.216	T	0.05869	-1.0859	10	0.25751	T	0.34	.	5.9639	0.19315	0.0:0.6923:0.0:0.3077	.	260	A0PJZ3	GXLT2_HUMAN	L	260;21	ENSP00000374268:F260L;ENSP00000420426:F21L	ENSP00000374268:F260L	F	+	3	2	GXYLT2	73087118	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	1.532000	0.36029	1.486000	0.48398	0.655000	0.94253	TTC	GXYLT2	-	pfam_Glyco_trans_8	ENSG00000172986		0.458	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT2	HGNC	protein_coding	OTTHUMT00000352318.1	100	0.00	0	C	NM_001080393		73004428	73004428	+1	no_errors	ENST00000389617	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	1.000	A
GYS1	2997	genome.wustl.edu	37	19	49477914	49477914	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:49477914C>T	ENST00000323798.3	-	11	1581	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	GYS1_ENST00000263276.6_Missense_Mutation_p.R398Q|GYS1_ENST00000544287.1_Missense_Mutation_p.R95Q|GYS1_ENST00000541188.1_Missense_Mutation_p.R382Q	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	462				Missing (in Ref. 3; AAB60385). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GAGGCCGATTCGGCGGATGGT	0.607																																						dbGAP											0													67.0	59.0	62.0					19																	49477914		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1385G>A	19.37:g.49477914C>T	ENSP00000317904:p.Arg462Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.R462Q	ENST00000323798.3	37	c.1385	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989165	0.93106	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.25	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.76727	2.345	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.99;0.977;0.999	T	0.80770	-0.1234	10	0.52906	T	0.07	-7.4031	12.0743	0.53634	0.0:0.9152:0.0:0.0848	.	382;398;462	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	Q	462;398;382;95	ENSP00000317904:R462Q;ENSP00000263276:R398Q;ENSP00000437922:R382Q;ENSP00000444004:R95Q	ENSP00000263276:R398Q	R	-	2	0	GYS1	54169726	1.000000	0.71417	0.841000	0.33234	0.944000	0.59088	5.878000	0.69682	1.348000	0.45733	0.561000	0.74099	CGA	GYS1	-	pfam_Glycogen_synth	ENSG00000104812		0.607	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	105	0.94	1	C	NM_002103		49477914	49477914	-1	no_errors	ENST00000323798	ensembl	human	known	69_37n	missense	58	28.92	24	SNP	1.000	T
GZF1	64412	genome.wustl.edu	37	20	23349471	23349471	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:23349471G>T	ENST00000338121.5	+	4	1609	c.1532G>T	c.(1531-1533)aGa>aTa	p.R511I	GZF1_ENST00000377051.2_Missense_Mutation_p.R511I|GZF1_ENST00000544236.1_Missense_Mutation_p.R35I|GZF1_ENST00000542987.1_Missense_Mutation_p.R20I|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	511					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CACCACAATAGAATCCATACT	0.373																																						dbGAP											0													122.0	118.0	119.0					20																	23349471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1532G>T	20.37:g.23349471G>T	ENSP00000338290:p.Arg511Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R511I	ENST00000338121.5	37	c.1532	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552909	0.65425	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.51568	0.1682	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47446	-0.9117	10	0.72032	D	0.01	.	19.2108	0.93753	0.0:0.0:1.0:0.0	.	511	Q9H116	GZF1_HUMAN	I	35;511;20;511	ENSP00000445458:R35I;ENSP00000338290:R511I;ENSP00000445118:R20I;ENSP00000366250:R511I	ENSP00000338290:R511I	R	+	2	0	GZF1	23297471	1.000000	0.71417	0.998000	0.56505	0.170000	0.22686	7.655000	0.83696	2.778000	0.95560	0.650000	0.86243	AGA	GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.373	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	254	0.00	0	G	NM_022482		23349471	23349471	+1	no_errors	ENST00000338121	ensembl	human	known	69_37n	missense	105	13.93	17	SNP	1.000	T
GZMK	3003	genome.wustl.edu	37	5	54327360	54327360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:54327360C>T	ENST00000231009.2	+	4	602	c.532C>T	c.(532-534)Cga>Tga	p.R178*	CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	178	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R178*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCCTAAGTCGAAAACTTTG	0.478																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											88.0	84.0	86.0					5																	54327360		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.532C>T	5.37:g.54327360C>T	ENSP00000231009:p.Arg178*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R563	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R178*	ENST00000231009.2	37	c.532	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611489	0.66558	.	.	ENSG00000113088	ENST00000231009	.	.	.	5.16	1.97	0.26223	.	0.065645	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6764	0.23095	0.6174:0.289:0.0:0.0935	.	.	.	.	X	178	.	ENSP00000231009:R178X	R	+	1	2	GZMK	54363117	0.627000	0.27129	0.715000	0.30552	0.627000	0.37826	1.104000	0.31074	0.656000	0.30886	0.655000	0.94253	CGA	GZMK	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000113088		0.478	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1	64	0.00	0	C	NM_002104		54327360	54327360	+1	no_errors	ENST00000231009	ensembl	human	known	69_37n	nonsense	54	25.00	18	SNP	0.916	T
HACL1	26061	genome.wustl.edu	37	3	15609442	15609442	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:15609442C>A	ENST00000321169.5	-	14	1685	c.1318G>T	c.(1318-1320)Gct>Tct	p.A440S	HACL1_ENST00000456194.2_Missense_Mutation_p.A413S|HACL1_ENST00000451445.2_Missense_Mutation_p.A358S|HACL1_ENST00000435217.2_Missense_Mutation_p.A199S|HACL1_ENST00000457447.2_Missense_Mutation_p.A380S	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	440	Thiamine pyrophosphate binding.				cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTATCTTTAGCCACCACGGCA	0.463																																						dbGAP											0													162.0	166.0	165.0					3																	15609442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1318G>T	3.37:g.15609442C>A	ENSP00000323811:p.Ala440Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.A440S	ENST00000321169.5	37	c.1318	CCDS2627.1	3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563372	0.27915	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.72	3.92	0.45320	Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.467893	0.25411	N	0.030875	T	0.35248	0.0925	L	0.33137	0.985	0.33718	D	0.616681	B;B;B;P;B	0.34815	0.379;0.205;0.205;0.47;0.368	B;B;B;B;B	0.35114	0.13;0.14;0.098;0.14;0.196	T	0.52689	-0.8542	10	0.62326	D	0.03	.	8.0199	0.30404	0.0:0.7068:0.0:0.2932	.	358;380;413;199;440	B4DXI5;E9PEN4;B4DWI1;B3KPX4;Q9UJ83	.;.;.;.;HACL1_HUMAN	S	440;199;358;413;380	ENSP00000323811:A440S;ENSP00000395278:A199S;ENSP00000403656:A358S;ENSP00000390699:A413S;ENSP00000404883:A380S	ENSP00000323811:A440S	A	-	1	0	HACL1	15584446	0.989000	0.36119	0.992000	0.48379	0.567000	0.35839	2.573000	0.46007	1.418000	0.47098	0.561000	0.74099	GCT	HACL1	-	pfam_TPP_enzyme-bd_C	ENSG00000131373		0.463	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	374	0.00	0	C	NM_012260		15609442	15609442	-1	no_errors	ENST00000321169	ensembl	human	known	69_37n	missense	225	30.77	100	SNP	0.993	A
HADHB	3032	genome.wustl.edu	37	2	26501559	26501559	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:26501559C>T	ENST00000317799.5	+	8	624	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	HADHB_ENST00000537713.1_Missense_Mutation_p.R159C|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Intron|HADHB_ENST00000545822.1_Missense_Mutation_p.R152C	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	174					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCCTATTCGTCACTCAAG	0.443																																						dbGAP											0													239.0	226.0	231.0					2																	26501559		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.520C>T	2.37:g.26501559C>T	ENSP00000325136:p.Arg174Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase	p.R174C	ENST00000317799.5	37	c.520	CCDS1722.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623822	0.87460	.	.	ENSG00000138029	ENST00000317799;ENST00000537713;ENST00000545822;ENST00000425035	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.44	5.44	0.79542	Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.92708	0.6180	9	.	.	.	-3.1989	18.186	0.89793	0.0:1.0:0.0:0.0	.	159;152;174	F5GZQ3;B4E2W0;P55084	.;.;ECHB_HUMAN	C	174;159;152;174	ENSP00000325136:R174C;ENSP00000444295:R159C;ENSP00000442665:R152C;ENSP00000404633:R174C	.	R	+	1	0	HADHB	26355063	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.675000	0.61619	2.708000	0.92522	0.650000	0.86243	CGT	HADHB	-	pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase	ENSG00000138029		0.443	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHB	HGNC	protein_coding	OTTHUMT00000214050.2	338	0.00	0	C	NM_000183		26501559	26501559	+1	no_errors	ENST00000317799	ensembl	human	known	69_37n	missense	237	17.07	49	SNP	1.000	T
HAO1	54363	genome.wustl.edu	37	20	7864303	7864303	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:7864303C>T	ENST00000378789.3	-	8	1101	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	350	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTTTCACATTCTGGCACCCTG	0.343																																						dbGAP											0													129.0	118.0	122.0					20																	7864303		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1050G>A	20.37:g.7864303C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.Q350	ENST00000378789.3	37	c.1050	CCDS13100.1	20																																																																																			HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000101323		0.343	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	576	0.00	0	C			7864303	7864303	-1	no_errors	ENST00000378789	ensembl	human	known	69_37n	silent	298	24.87	99	SNP	1.000	T
HAO1	54363	genome.wustl.edu	37	20	7886801	7886801	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:7886801C>A	ENST00000378789.3	-	4	772	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	241	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.G241S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATAAACGAACCTCTCAAAATG	0.353																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											139.0	133.0	135.0					20																	7886801		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.721+1G>T	20.37:g.7886801C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.G241C	ENST00000378789.3	37	c.721	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377555	0.82682	.	.	ENSG00000101323	ENST00000378789	T	0.30981	1.51	5.54	5.54	0.83059	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.150361	0.64402	D	0.000017	T	0.42675	0.1213	M	0.70275	2.135	0.80722	D	1	B;B	0.26195	0.144;0.144	B;B	0.36378	0.223;0.223	T	0.24548	-1.0157	9	.	.	.	-20.0413	19.4692	0.94956	0.0:1.0:0.0:0.0	.	241;241	A8K058;Q9UJM8	.;HAOX1_HUMAN	C	241	ENSP00000368066:G241C	.	G	-	1	0	HAO1	7834801	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.435000	0.80391	2.596000	0.87737	0.591000	0.81541	GGT	HAO1	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000101323		0.353	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	HGNC	protein_coding	OTTHUMT00000077926.2	259	0.00	0	C		Missense_Mutation	7886801	7886801	-1	no_errors	ENST00000378789	ensembl	human	known	69_37n	missense	147	30.00	63	SNP	1.000	A
HAO2	51179	genome.wustl.edu	37	1	119935084	119935084	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:119935084C>T	ENST00000325945.3	+	7	1003				HAO2_ENST00000361035.4_Intron|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)						fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CTATCTTTGTCTCTGTGCTTT	0.383																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.931-157C>T	1.37:g.119935084C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TU86|Q5QP00|Q9UJS6	RNA	SNP	-	NULL	ENST00000325945.3	37	NULL	CCDS901.1	1																																																																																			HAO2	-	-	ENSG00000116882		0.383	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	96	0.00	0	C	NM_001005783		119935084	119935084	+1	no_errors	ENST00000482991	ensembl	human	putative	69_37n	rna	94	11.21	12	SNP	0.001	T
HAS2	3037	genome.wustl.edu	37	8	122626673	122626673	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:122626673C>T	ENST00000303924.4	-	4	1872	c.1335G>A	c.(1333-1335)tcG>tcA	p.S445S		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	445					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GAAGTAAACTCGACATGTATA	0.418																																						dbGAP											0													148.0	144.0	146.0					8																	122626673		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1335G>A	8.37:g.122626673C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MM3	Silent	SNP	pfam_Chitin_synth_fng	p.S445	ENST00000303924.4	37	c.1335	CCDS6335.1	8																																																																																			HAS2	-	NULL	ENSG00000170961		0.418	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	125	0.00	0	C	NM_005328		122626673	122626673	-1	no_errors	ENST00000303924	ensembl	human	known	69_37n	silent	98	15.52	18	SNP	0.776	T
HAUS6	54801	genome.wustl.edu	37	9	19096723	19096723	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:19096723G>T	ENST00000380502.3	-	2	640	c.173C>A	c.(172-174)tCt>tAt	p.S58Y		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	58					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAAAAATAAGAAATTATATG	0.279																																						dbGAP											0													48.0	53.0	51.0					9																	19096723		2203	4296	6499	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.173C>A	9.37:g.19096723G>T	ENSP00000369871:p.Ser58Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.S58Y	ENST00000380502.3	37	c.173	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737024	0.69304	.	.	ENSG00000147874	ENST00000380502	T	0.24538	1.85	5.25	5.25	0.73442	.	0.281088	0.41097	D	0.000946	T	0.36413	0.0966	M	0.67953	2.075	0.80722	D	1	P	0.49090	0.919	P	0.51385	0.668	T	0.03576	-1.1023	10	0.29301	T	0.29	-5.0694	11.3128	0.49375	0.0845:0.0:0.9155:0.0	.	58	Q7Z4H7	HAUS6_HUMAN	Y	58	ENSP00000369871:S58Y	ENSP00000369871:S58Y	S	-	2	0	HAUS6	19086723	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.999000	0.49473	2.604000	0.88044	0.650000	0.86243	TCT	HAUS6	-	NULL	ENSG00000147874		0.279	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	112	0.00	0	G	NM_017645		19096723	19096723	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	69	10.39	8	SNP	1.000	T
HAVCR2	84868	genome.wustl.edu	37	5	156533812	156533812	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:156533812C>A	ENST00000307851.4	-	2	950	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	HAVCR2_ENST00000522593.1_Missense_Mutation_p.D74Y|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	74	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATTCACATCCCTTTCATCA	0.537																																						dbGAP											0													160.0	149.0	153.0					5																	156533812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.220G>T	5.37:g.156533812C>A	ENSP00000312002:p.Asp74Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.D74Y	ENST00000307851.4	37	c.220	CCDS4333.1	5	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015335	0.35511	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.02974	4.09;4.09	5.48	-1.08	0.09936	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.944756	0.08849	N	0.884682	T	0.02807	0.0084	L	0.34521	1.04	0.09310	N	1	P;P	0.35612	0.456;0.512	B;B	0.36504	0.145;0.226	T	0.45086	-0.9285	10	0.62326	D	0.03	-1.2924	5.7691	0.18243	0.0:0.2181:0.2732:0.5088	.	74;74	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	Y	74	ENSP00000312002:D74Y;ENSP00000430873:D74Y	ENSP00000312002:D74Y	D	-	1	0	HAVCR2	156466390	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.039000	0.13884	-0.116000	0.11893	-0.768000	0.03414	GAT	HAVCR2	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000135077		0.537	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR2	HGNC	protein_coding	OTTHUMT00000252574.2	153	0.00	0	C			156533812	156533812	-1	no_errors	ENST00000307851	ensembl	human	known	69_37n	missense	122	22.78	36	SNP	0.000	A
HBS1L	10767	genome.wustl.edu	37	6	135318011	135318011	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:135318011C>A	ENST00000367837.5	-	7	1075	c.869G>T	c.(868-870)aGa>aTa	p.R290I	HBS1L_ENST00000367826.2_Missense_Mutation_p.R248I|HBS1L_ENST00000415177.2_Missense_Mutation_p.R225I|HBS1L_ENST00000445176.2_Missense_Mutation_p.R14I|HBS1L_ENST00000527578.1_Missense_Mutation_p.R126I|HBS1L_ENST00000367824.4_Missense_Mutation_p.R126I	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	290	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ATGCATAGTTCTTTTGTTTAT	0.393																																						dbGAP											0													179.0	174.0	176.0					6																	135318011		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.869G>T	6.37:g.135318011C>A	ENSP00000356811:p.Arg290Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916,pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.R290I	ENST00000367837.5	37	c.869	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.617103	0.96649	.	.	ENSG00000112339	ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176;ENST00000529641;ENST00000527507	T;T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.95	5.95	0.96441	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	M	0.80508	2.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.982;0.989	D	0.84732	0.0746	10	0.87932	D	0	-15.065	20.3967	0.98985	0.0:1.0:0.0:0.0	.	248;290	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	I	290;126;225;248;126;160;14;126;126	ENSP00000356811:R290I;ENSP00000436256:R126I;ENSP00000389826:R225I;ENSP00000356800:R248I;ENSP00000356798:R126I;ENSP00000434533:R160I;ENSP00000415305:R14I;ENSP00000436620:R126I;ENSP00000432092:R126I	ENSP00000356798:R126I	R	-	2	0	HBS1L	135359704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.829000	0.97493	0.655000	0.94253	AGA	HBS1L	-	pfam_ProtSyn_GTP-bd	ENSG00000112339		0.393	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	393	0.00	0	C			135318011	135318011	-1	no_errors	ENST00000367837	ensembl	human	known	69_37n	missense	261	11.78	35	SNP	1.000	A
HBS1L	10767	genome.wustl.edu	37	6	135371786	135371786	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:135371786C>A	ENST00000367837.5	-	2	250		c.e2-1		HBS1L_ENST00000367826.2_Splice_Site|HBS1L_ENST00000415177.2_Splice_Site|HBS1L_ENST00000367822.5_Splice_Site|HBS1L_ENST00000445176.2_5'Flank|HBS1L_ENST00000367820.2_Splice_Site|HBS1L_ENST00000367824.4_5'Flank|HBS1L_ENST00000525067.1_Intron|HBS1L_ENST00000314674.3_Splice_Site	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TCTTCAAAATCTAAAATAAAG	0.299																																						dbGAP											0													26.0	26.0	26.0					6																	135371786		2201	4286	6487	-	-	-	SO:0001630	splice_region_variant	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.44-1G>T	6.37:g.135371786C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Splice_Site	SNP	-	e2-1	ENST00000367837.5	37	c.44-1	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252138	0.59212	.	.	ENSG00000112339	ENST00000367837;ENST00000415177;ENST00000367826;ENST00000314674;ENST00000529882;ENST00000367822;ENST00000367820	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0432	0.89324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HBS1L	135413479	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.296000	0.72751	2.418000	0.82041	0.655000	0.94253	.	HBS1L	-	-	ENSG00000112339		0.299	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	84	0.00	0	C		Intron	135371786	135371786	-1	no_errors	ENST00000367837	ensembl	human	known	69_37n	splice_site	35	31.37	16	SNP	1.000	A
HCRTR1	3061	genome.wustl.edu	37	1	32085275	32085275	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:32085275C>T	ENST00000373706.5	+	2	495	c.342C>T	c.(340-342)ttC>ttT	p.F114F	HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Silent_p.F114F|HCRTR1_ENST00000403528.2_Silent_p.F114F			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	114					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCTGGCTGTTCGGCCATGCCC	0.587																																						dbGAP											0													120.0	88.0	99.0					1																	32085275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.342C>T	1.37:g.32085275C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3A6|Q9HBV6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt	p.F114	ENST00000373706.5	37	c.342	CCDS344.1	1																																																																																			HCRTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Orexin_rcpt,prints_NPY_rcpt	ENSG00000121764		0.587	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR1	HGNC	protein_coding	OTTHUMT00000011042.1	55	0.00	0	C	NM_001525		32085275	32085275	+1	no_errors	ENST00000373706	ensembl	human	known	69_37n	silent	21	30.00	9	SNP	0.744	T
HDAC1	3065	genome.wustl.edu	37	1	32797314	32797314	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:32797314G>A	ENST00000373548.3	+	11	1210	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.A183T	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	376					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GCTGCCGCACGCACCTGGGGT	0.567																																						dbGAP											0													98.0	94.0	95.0					1																	32797314		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1126G>A	1.37:g.32797314G>A	ENSP00000362649:p.Ala376Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92534	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.A376T	ENST00000373548.3	37	c.1126	CCDS360.1	1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408900	0.62399	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.78707	-1.2;-0.94	4.28	4.28	0.50868	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.93678	3.445	0.80722	D	1	D	0.55605	0.972	P	0.46629	0.522	D	0.90634	0.4569	10	0.62326	D	0.03	-3.9177	17.6011	0.88025	0.0:0.0:1.0:0.0	.	376	Q13547	HDAC1_HUMAN	T	376;183	ENSP00000362649:A376T;ENSP00000362642:A183T	ENSP00000362642:A183T	A	+	1	0	HDAC1	32569901	1.000000	0.71417	0.877000	0.34402	0.283000	0.27025	9.715000	0.98748	2.330000	0.79161	0.563000	0.77884	GCA	HDAC1	-	pirsf_His_deacetylse_1	ENSG00000116478		0.567	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	116	0.00	0	G	NM_004964		32797314	32797314	+1	no_errors	ENST00000373548	ensembl	human	known	69_37n	missense	63	18.99	15	SNP	1.000	A
HDAC6	10013	genome.wustl.edu	37	X	48681418	48681418	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48681418G>A	ENST00000334136.5	+	25	2787	c.2609G>A	c.(2608-2610)cGa>cAa	p.R870Q	HDAC6_ENST00000444343.2_Missense_Mutation_p.R884Q|HDAC6_ENST00000376619.2_Missense_Mutation_p.R870Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	870					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)	ATGACCACACGAGAAAAGAAG	0.537																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													74.0	62.0	66.0					X																	48681418		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2609G>A	X.37:g.48681418G>A	ENSP00000334061:p.Arg870Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.R884Q	ENST00000334136.5	37	c.2651	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	8.080	0.772145	0.16051	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.58797	0.31;0.31;0.31	5.25	1.05	0.20165	.	1.810820	0.02615	N	0.102615	T	0.28764	0.0713	N	0.08118	0	0.09310	N	1	B;P;B;B	0.52316	0.378;0.952;0.345;0.378	B;B;B;B	0.32805	0.033;0.153;0.048;0.033	T	0.30592	-0.9973	10	0.11794	T	0.64	-0.5338	5.8907	0.18911	0.0:0.5025:0.2954:0.2021	.	860;233;518;870	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	Q	884;870;870	ENSP00000398566:R884Q;ENSP00000334061:R870Q;ENSP00000365804:R870Q	ENSP00000334061:R870Q	R	+	2	0	HDAC6	48566362	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.066000	0.14489	0.222000	0.20900	-0.216000	0.12614	CGA	HDAC6	-	NULL	ENSG00000094631		0.537	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	185	0.00	0	G	NM_006044		48681418	48681418	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	missense	84	33.59	43	SNP	0.000	A
HDHD2	84064	genome.wustl.edu	37	18	44660960	44660960	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:44660960A>G	ENST00000300605.6	-	3	369	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	73						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						AGAGATGTGAATATTTCATCT	0.413																																						dbGAP											0													144.0	143.0	143.0					18																	44660960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.217T>C	18.37:g.44660960A>G	ENSP00000300605:p.Phe73Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7T3|Q96NV4	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.F73L	ENST00000300605.6	37	c.217	CCDS32829.1	18	.	.	.	.	.	.	.	.	.	.	A	27.5	4.837062	0.91117	.	.	ENSG00000167220	ENST00000300605	T	0.27256	1.68	5.85	5.85	0.93711	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.77406	2.37	0.80722	D	1	B	0.32338	0.365	B	0.41135	0.348	T	0.37384	-0.9708	10	0.66056	D	0.02	-0.6172	16.2271	0.82306	1.0:0.0:0.0:0.0	.	73	Q9H0R4	HDHD2_HUMAN	L	73	ENSP00000300605:F73L	ENSP00000300605:F73L	F	-	1	0	HDHD2	42914958	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.249000	0.65427	2.234000	0.73211	0.460000	0.39030	TTC	HDHD2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	ENSG00000167220		0.413	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HDHD2	HGNC	protein_coding	OTTHUMT00000450668.2	332	0.00	0	A	NM_032124		44660960	44660960	-1	no_errors	ENST00000300605	ensembl	human	known	69_37n	missense	271	11.69	36	SNP	1.000	G
HDLBP	3069	genome.wustl.edu	37	2	242178112	242178112	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:242178112G>A	ENST00000391975.1	-	20	2928	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	HDLBP_ENST00000427183.2_Missense_Mutation_p.R868W|HDLBP_ENST00000391976.2_Missense_Mutation_p.R901W|HDLBP_ENST00000310931.4_Missense_Mutation_p.R901W	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	901	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTGAAATCCCGAGTAATCTGC	0.502																																						dbGAP											0													186.0	203.0	197.0					2																	242178112		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2701C>T	2.37:g.242178112G>A	ENSP00000375836:p.Arg901Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R901W	ENST00000391975.1	37	c.2701	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.46|19.46	3.831336|3.831336	0.71258|0.71258	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.32988|.	1.43;1.43;1.43;1.43|.	6.05|6.05	3.2|3.2	0.36748|0.36748	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.048912|.	0.85682|.	D|.	0.000000|.	T|T	0.76579|0.76579	0.4007|0.4007	M|M	0.83603|0.83603	2.65|2.65	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.70716|.	0.97;0.952|.	T|T	0.77667|0.77667	-0.2502|-0.2502	10|5	0.56958|.	D|.	0.05|.	-46.956|-46.956	15.3913|15.3913	0.74747|0.74747	0.0:0.0:0.6175:0.3824|0.0:0.0:0.6175:0.3824	.|.	868;901|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	W|L	901;901;901;868|709	ENSP00000375836:R901W;ENSP00000375837:R901W;ENSP00000312042:R901W;ENSP00000399139:R868W|.	ENSP00000312042:R901W|.	R|S	-|-	1|2	2|0	HDLBP|HDLBP	241826785|241826785	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.997000|0.997000	0.91878|0.91878	3.842000|3.842000	0.55858|0.55858	0.395000|0.395000	0.25257|0.25257	0.655000|0.655000	0.94253|0.94253	CGG|TCG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.502	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	124	0.00	0	G	NM_203346		242178112	242178112	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	1.000	A
HDX	139324	genome.wustl.edu	37	X	83581232	83581232	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:83581232C>A	ENST00000297977.5	-	9	2012	c.1901G>T	c.(1900-1902)aGa>aTa	p.R634I	HDX_ENST00000373177.2_Missense_Mutation_p.R634I|HDX_ENST00000506585.2_Missense_Mutation_p.R576I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	634						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATCAAGCTTCTAACAAAAGT	0.333																																					Pancreas(53;231 1169 36156 43751 51139)	dbGAP											0													112.0	101.0	105.0					X																	83581232		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1901G>T	X.37:g.83581232C>A	ENSP00000297977:p.Arg634Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R634I	ENST00000297977.5	37	c.1901	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203851	0.38905	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.36340	1.29;1.26;1.29	5.04	4.18	0.49190	.	0.134994	0.50627	N	0.000107	T	0.23249	0.0562	N	0.14661	0.345	0.43271	D	0.995222	P	0.36733	0.567	B	0.38106	0.265	T	0.07309	-1.0779	10	0.72032	D	0.01	-22.7323	9.3076	0.37885	0.0:0.8304:0.0:0.1696	.	634	Q7Z353	HDX_HUMAN	I	634;576;634	ENSP00000297977:R634I;ENSP00000362272:R576I;ENSP00000423670:R634I	ENSP00000297977:R634I	R	-	2	0	HDX	83467888	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.764000	0.38471	0.938000	0.37419	0.586000	0.80456	AGA	HDX	-	NULL	ENSG00000165259		0.333	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	374	0.00	0	C	NM_144657		83581232	83581232	-1	no_errors	ENST00000297977	ensembl	human	known	69_37n	missense	169	29.88	72	SNP	1.000	A
HEATR5A	25938	genome.wustl.edu	37	14	31817009	31817009	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31817009G>T	ENST00000389961.3	-	18	2794	c.2795C>A	c.(2794-2796)tCt>tAt	p.S932Y	HEATR5A_ENST00000439348.1_Missense_Mutation_p.S932Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S938Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S645Y|HEATR5A_ENST00000543095.2_Missense_Mutation_p.S938Y			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	932										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAATACAAGAATTTAGGTG	0.428																																						dbGAP											0													54.0	54.0	54.0					14																	31817009		1874	4099	5973	-	-	-	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2795C>A	14.37:g.31817009G>T	ENSP00000374611:p.Ser932Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S932Y	ENST00000389961.3	37	c.2795		14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.99|19.99|19.99	3.928233|3.928233|3.928233	0.73327|0.73327|0.73327	.|.|.	.|.|.	ENSG00000129493|ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|.|T;T;T;T;T	.|.|0.06142	.|.|3.34;3.34;3.34;3.34;3.34	5.06|5.06|5.06	5.06|5.06|5.06	0.68205|0.68205|0.68205	.|.|Armadillo-like helical (1);Armadillo-type fold (1);	.|.|0.270493	.|.|0.35677	.|.|N	.|.|0.003048	T|T|T	0.13114|0.13114|0.13114	0.0318|0.0318|0.0318	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.53005|0.53005|0.53005	D|D|D	0.999963|0.999963|0.999963	.|.|P;P;B	.|.|0.50943	.|.|0.771;0.94;0.348	.|.|P;P;P	.|.|0.49140	.|.|0.506;0.601;0.575	T|T|T	0.00715|0.00715|0.00715	-1.1597|-1.1597|-1.1597	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	18.4323|18.4323|18.4323	0.90630|0.90630|0.90630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|938;932;932	.|.|B5MC49;Q86XA9-2;Q86XA9	.|.|.;.;HTR5A_HUMAN	L|I|Y	580|566|932;932;645;938;938	.|.|ENSP00000374611:S932Y;ENSP00000405407:S932Y;ENSP00000408681:S645Y;ENSP00000437968:S938Y;ENSP00000384646:S938Y	.|.|ENSP00000374611:S932Y	F|L|S	-|-|-	3|1|2	2|0|0	HEATR5A|HEATR5A|HEATR5A	30886760|30886760|30886760	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.966000|0.966000|0.966000	0.64601|0.64601|0.64601	6.406000|6.406000|6.406000	0.73276|0.73276|0.73276	2.346000|2.346000|2.346000	0.79739|0.79739|0.79739	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	TTC|CTT|TCT	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.428	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		273	0.00	0	G	NM_015473		31817009	31817009	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	missense	176	11.56	23	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31856419	31856419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31856419G>A	ENST00000389961.3	-	7	1077	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.R360*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.R366*|HEATR5A_ENST00000439727.1_Nonsense_Mutation_p.R73*|HEATR5A_ENST00000543095.2_Nonsense_Mutation_p.R366*			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	360										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATAGTAGTTCGAAGAATAAAT	0.458																																						dbGAP											0													125.0	118.0	120.0					14																	31856419		1907	4123	6030	-	-	-	SO:0001587	stop_gained	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1078C>T	14.37:g.31856419G>A	ENSP00000374611:p.Arg360*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.R360*	ENST00000389961.3	37	c.1078		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.483808|7.483808	0.98312|0.98312	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	.|.	.|.	.|.	5.35|5.35	4.44|4.44	0.53790|0.53790	.|.	0.069645|.	0.56097|.	D|.	0.000023|.	.|T	.|0.66470	.|0.2792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71533	.|-0.4564	.|3	0.02654|.	T|.	1|.	.|.	15.1411|15.1411	0.72612|0.72612	0.0:0.0:0.8575:0.1425|0.0:0.0:0.8575:0.1425	.|.	.|.	.|.	.|.	X|L	360;360;73;366;366|24	.|.	ENSP00000374611:R360X|.	R|S	-|-	1|2	2|0	HEATR5A|HEATR5A	30926170|30926170	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.968000|0.968000	0.65278|0.65278	4.590000|4.590000	0.61013|0.61013	1.202000|1.202000	0.43218|0.43218	0.491000|0.491000	0.48974|0.48974	CGA|TCG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.458	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		251	0.00	0	G	NM_015473		31856419	31856419	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	nonsense	210	11.02	26	SNP	1.000	A
MROH2B	133558	genome.wustl.edu	37	5	41004559	41004559	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41004559G>A	ENST00000399564.4	-	37	4533	c.4083C>T	c.(4081-4083)gtC>gtT	p.V1361V	MROH2B_ENST00000506092.2_Silent_p.V916V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1361																	TTTCACAGACGACTTCAGTGC	0.423																																						dbGAP											0													110.0	102.0	104.0					5																	41004559		1850	4104	5954	-	-	-	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4083C>T	5.37:g.41004559G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.V1361	ENST00000399564.4	37	c.4083	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	390	0.00	0	G	NM_173489		41004559	41004559	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	silent	246	15.12	44	SNP	0.960	A
MROH2B	133558	genome.wustl.edu	37	5	41048429	41048429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41048429C>A	ENST00000399564.4	-	16	2131	c.1681G>T	c.(1681-1683)Gaa>Taa	p.E561*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.E116*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	561																	CTTGTACCTTCCAGAGGCTGC	0.453																																						dbGAP											0													123.0	116.0	119.0					5																	41048429		1883	4112	5995	-	-	-	SO:0001587	stop_gained	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1681G>T	5.37:g.41048429C>A	ENSP00000382476:p.Glu561*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E561*	ENST00000399564.4	37	c.1681	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.162872	0.97338	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	4.76	4.76	0.60689	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.4769	0.61314	0.0:1.0:0.0:0.0	.	.	.	.	X	116;265;561	.	ENSP00000296803:E265X	E	-	1	0	HEATR7B2	41084186	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.303000	0.51858	2.625000	0.88918	0.655000	0.94253	GAA	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.453	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	280	0.00	0	C	NM_173489		41048429	41048429	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	nonsense	214	13.01	32	SNP	1.000	A
HEBP2	23593	genome.wustl.edu	37	6	138734175	138734175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:138734175G>A	ENST00000607197.1	+	4	855	c.578G>A	c.(577-579)tGg>tAg	p.W193*	HEBP2_ENST00000448741.1_3'UTR|HEBP2_ENST00000367697.3_3'UTR	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	193					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AATGAAGTGTGGTTGATTCAA	0.358																																						dbGAP											0													99.0	103.0	102.0					6																	138734175		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.578G>A	6.37:g.138734175G>A	ENSP00000475750:p.Trp193*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96P57	Nonsense_Mutation	SNP	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_bac	p.W193*	ENST00000607197.1	37	c.578	CCDS5191.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.319442	0.97471	.	.	ENSG00000051620	ENST00000058691	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5324	0.84365	0.0:0.0:1.0:0.0	.	.	.	.	X	193	.	ENSP00000058691:W193X	W	+	2	0	HEBP2	138775868	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.384000	0.73177	2.640000	0.89533	0.563000	0.77884	TGG	HEBP2	-	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_bac	ENSG00000051620		0.358	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEBP2	HGNC	protein_coding	OTTHUMT00000042426.2	117	0.00	0	G			138734175	138734175	+1	no_errors	ENST00000058691	ensembl	human	known	69_37n	nonsense	95	15.93	18	SNP	1.000	A
HECTD1	25831	genome.wustl.edu	37	14	31585633	31585633	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31585633G>A	ENST00000399332.1	-	30	5915	c.5427C>T	c.(5425-5427)gtC>gtT	p.V1809V	HECTD1_ENST00000553700.1_Silent_p.V1809V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1809					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GAGTACATTCGACTTCTTCCA	0.418																																						dbGAP											0													87.0	82.0	83.0					14																	31585633		1846	4093	5939	-	-	-	SO:0001819	synonymous_variant	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5427C>T	14.37:g.31585633G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.S175L	ENST00000399332.1	37	c.524	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	8.514	0.867232	0.17250	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.44	-7.11	0.01542	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39663	-0.9603	4	.	.	.	-13.1592	1.8957	0.03257	0.3955:0.0823:0.2831:0.2391	.	.	.	.	L	175	.	.	S	-	2	0	HECTD1	30655384	0.605000	0.26941	0.901000	0.35422	0.946000	0.59487	-0.042000	0.12063	-1.251000	0.02494	-1.608000	0.00805	TCG	HECTD1	-	NULL	ENSG00000092148		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	166	0.00	0	G			31585633	31585633	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000554882	ensembl	human	novel	69_37n	missense	142	15.88	27	SNP	0.736	A
HECTD1	25831	genome.wustl.edu	37	14	31598166	31598166	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31598166G>A	ENST00000399332.1	-	25	4899	c.4411C>T	c.(4411-4413)Cgt>Tgt	p.R1471C	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1471C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1471	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCAGGAGTACGAACAGAACTA	0.438																																						dbGAP											0													126.0	117.0	120.0					14																	31598166		1921	4133	6054	-	-	-	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4411C>T	14.37:g.31598166G>A	ENSP00000382269:p.Arg1471Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.R1471C	ENST00000399332.1	37	c.4411	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759369	0.49468	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.42131	0.98;0.98;1.32	5.86	5.86	0.93980	.	0.188947	0.28365	U	0.015608	T	0.33847	0.0877	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.99;0.99	P;B	0.44597	0.454;0.336	T	0.19745	-1.0296	10	0.59425	D	0.04	-6.7486	18.7433	0.91782	0.0:0.0:1.0:0.0	.	1471;1471	D3DS86;Q9ULT8	.;HECD1_HUMAN	C	1471;1473;1471;898	ENSP00000450697:R1471C;ENSP00000382269:R1471C;ENSP00000451860:R898C	ENSP00000261312:R1473C	R	-	1	0	HECTD1	30667917	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.107000	0.77047	2.937000	0.99478	0.650000	0.86243	CGT	HECTD1	-	NULL	ENSG00000092148		0.438	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	95	0.00	0	G			31598166	31598166	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	missense	66	34.00	34	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112600232	112600232	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:112600232G>A	ENST00000430131.2	-	75	13095	c.11950C>T	c.(11950-11952)Cgt>Tgt	p.R3984C	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4234C|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4260C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3984	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATGGCACAACGAAGTTTCTCC	0.552																																						dbGAP											0													99.0	101.0	101.0					12																	112600232		1997	4176	6173	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11950C>T	12.37:g.112600232G>A	ENSP00000404379:p.Arg3984Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.R4234C	ENST00000430131.2	37	c.12700		12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846137	0.91277	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.59083	0.29;0.29;0.29	5.51	5.51	0.81932	HECT (4);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75932	-0.3143	10	0.87932	D	0	.	14.272	0.66157	0.0:0.0:0.8512:0.1488	.	3984	Q9Y4D8	K0614_HUMAN	C	4234;3984;4260	ENSP00000366783:R4234C;ENSP00000404379:R3984C;ENSP00000449784:R4260C	ENSP00000366783:R4234C	R	-	1	0	C12orf51	111084615	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.500000	0.81588	2.595000	0.87683	0.563000	0.77884	CGT	HECTD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000173064		0.552	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		60	0.00	0	G	NM_173813		112600232	112600232	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	26	38.10	16	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112707611	112707611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:112707611G>A	ENST00000430131.2	-	12	2067	c.922C>T	c.(922-924)Cga>Tga	p.R308*	RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R558*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.R596*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	308					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATGATGTCTCGATTCCTTTCA	0.398																																						dbGAP											0													83.0	83.0	83.0					12																	112707611		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.922C>T	12.37:g.112707611G>A	ENSP00000404379:p.Arg308*	Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.R558*	ENST00000430131.2	37	c.1672		12	.	.	.	.	.	.	.	.	.	.	G	47	13.756235	0.99761	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.9	5.9	0.94986	.	0.063962	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9233	0.79592	0.0:0.0:0.8569:0.1431	.	.	.	.	X	558;308;596	.	ENSP00000366783:R558X	R	-	1	2	C12orf51	111191994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.582000	0.46085	2.786000	0.95864	0.563000	0.77884	CGA	HECTD4	-	NULL	ENSG00000173064		0.398	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		300	0.33	1	G	NM_173813		112707611	112707611	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	nonsense	196	22.13	56	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112708208	112708208	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:112708208C>T	ENST00000430131.2	-	11	1847	c.702G>A	c.(700-702)gcG>gcA	p.A234A	HECTD4_ENST00000377560.5_Silent_p.A484A|HECTD4_ENST00000550722.1_Silent_p.A522A			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	234					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTATGCACATCGCACCAACGT	0.433																																						dbGAP											0													302.0	301.0	301.0					12																	112708208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.702G>A	12.37:g.112708208C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.A484	ENST00000430131.2	37	c.1452		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.433	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		213	0.00	0	C	NM_173813		112708208	112708208	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	silent	189	10.85	23	SNP	0.960	T
HECW1	23072	genome.wustl.edu	37	7	43484065	43484065	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:43484065T>A	ENST00000395891.2	+	11	1899	c.1294T>A	c.(1294-1296)Tct>Act	p.S432T	HECW1_ENST00000453890.1_Missense_Mutation_p.S432T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	432					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGCATGGTCTCTGTGGGACC	0.632																																						dbGAP											0													23.0	26.0	25.0					7																	43484065		2080	4207	6287	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1294T>A	7.37:g.43484065T>A	ENSP00000379228:p.Ser432Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S432T	ENST00000395891.2	37	c.1294	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	T	10.73	1.432461	0.25813	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.32272	1.47;1.46	4.88	-3.82	0.04281	.	22.781800	0.00166	N	0.000000	T	0.21590	0.0520	L	0.29908	0.895	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.01	T	0.17107	-1.0380	10	0.25106	T	0.35	.	7.8165	0.29263	0.0:0.3317:0.4183:0.2499	.	432;432	B4DH42;Q76N89	.;HECW1_HUMAN	T	432	ENSP00000379228:S432T;ENSP00000407774:S432T	ENSP00000265522:S432T	S	+	1	0	HECW1	43450590	0.005000	0.15991	0.000000	0.03702	0.076000	0.17211	1.264000	0.33015	-0.410000	0.07542	-0.353000	0.07706	TCT	HECW1	-	NULL	ENSG00000002746		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	33	0.00	0	T	NM_015052		43484065	43484065	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.000	A
HECW1	23072	genome.wustl.edu	37	7	43484778	43484778	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:43484778T>C	ENST00000395891.2	+	11	2612	c.2007T>C	c.(2005-2007)agT>agC	p.S669S	HECW1_ENST00000453890.1_Silent_p.S669S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	669					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGACCACAGTTGCGAGGGCT	0.682																																						dbGAP											0													24.0	30.0	28.0					7																	43484778		2142	4227	6369	-	-	-	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2007T>C	7.37:g.43484778T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S669	ENST00000395891.2	37	c.2007	CCDS5469.2	7																																																																																			HECW1	-	NULL	ENSG00000002746		0.682	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	18	0.00	0	T	NM_015052		43484778	43484778	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	silent	10	31.25	5	SNP	1.000	C
HECW1	23072	genome.wustl.edu	37	7	43506070	43506070	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:43506070C>A	ENST00000395891.2	+	15	3421	c.2816C>A	c.(2815-2817)tCt>tAt	p.S939Y	HECW1_ENST00000453890.1_Missense_Mutation_p.S905Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	939					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGTCACTTTCTCCAGTGAAC	0.458																																						dbGAP											0													114.0	106.0	109.0					7																	43506070		1941	4138	6079	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2816C>A	7.37:g.43506070C>A	ENSP00000379228:p.Ser939Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.S939Y	ENST00000395891.2	37	c.2816	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527614	0.85706	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.83992	-1.79;-1.79	5.8	5.8	0.92144	.	0.253439	0.47852	D	0.000211	D	0.87176	0.6112	L	0.40543	1.245	0.80722	D	1	D;D	0.64830	0.994;0.985	P;P	0.60173	0.87;0.781	D	0.87498	0.2431	10	0.66056	D	0.02	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	905;939	B4DH42;Q76N89	.;HECW1_HUMAN	Y	939;905;939	ENSP00000379228:S939Y;ENSP00000407774:S905Y	ENSP00000265522:S939Y	S	+	2	0	HECW1	43472595	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	5.584000	0.67490	2.744000	0.94065	0.655000	0.94253	TCT	HECW1	-	NULL	ENSG00000002746		0.458	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	193	0.00	0	C	NM_015052		43506070	43506070	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	153	15.00	27	SNP	1.000	A
HECW2	57520	genome.wustl.edu	37	2	197184344	197184344	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:197184344C>T	ENST00000260983.3	-	9	1452	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	HECW2_ENST00000409111.1_Missense_Mutation_p.E68K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	424					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCATTGTGTTCGATAGCATCT	0.512																																						dbGAP											0													69.0	71.0	70.0					2																	197184344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1270G>A	2.37:g.197184344C>T	ENSP00000260983:p.Glu424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E424K	ENST00000260983.3	37	c.1270	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968017	0.34754	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.44083	0.93;1.02	5.64	4.75	0.60458	.	1.022860	0.07729	N	0.945017	T	0.34803	0.0910	L	0.32530	0.975	0.52099	D	0.999945	B	0.32071	0.355	B	0.20184	0.028	T	0.04078	-1.0979	10	0.41790	T	0.15	.	14.4253	0.67212	0.1475:0.8525:0.0:0.0	.	424	Q9P2P5	HECW2_HUMAN	K	68;424	ENSP00000386775:E68K;ENSP00000260983:E424K	ENSP00000260983:E424K	E	-	1	0	HECW2	196892589	1.000000	0.71417	0.503000	0.27626	0.019000	0.09904	6.814000	0.75236	1.603000	0.50134	-0.188000	0.12872	GAA	HECW2	-	NULL	ENSG00000138411		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	89	0.00	0	C	NM_020760		197184344	197184344	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	0.998	T
HEG1	57493	genome.wustl.edu	37	3	124738108	124738108	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:124738108G>A	ENST00000311127.4	-	5	1653	c.1586C>T	c.(1585-1587)tCg>tTg	p.S529L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	529	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAACTCACTCGAACGTTCTCC	0.468																																						dbGAP											0													72.0	71.0	71.0					3																	124738108		2004	4191	6195	-	-	-	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1586C>T	3.37:g.124738108G>A	ENSP00000311502:p.Ser529Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.S529L	ENST00000311127.4	37	c.1586	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910524	0.33721	.	.	ENSG00000173706	ENST00000311127	D	0.90261	-2.64	5.13	2.3	0.28687	.	.	.	.	.	D	0.83248	0.5213	L	0.35723	1.085	0.09310	N	1	B;B	0.31519	0.327;0.122	B;B	0.28305	0.088;0.022	T	0.73968	-0.3815	9	0.54805	T	0.06	.	5.3274	0.15915	0.1839:0.1686:0.6475:0.0	.	529;529	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	529	ENSP00000311502:S529L	ENSP00000311502:S529L	S	-	2	0	HEG1	126220798	0.010000	0.17322	0.011000	0.14972	0.948000	0.59901	0.561000	0.23515	0.739000	0.32628	0.650000	0.86243	TCG	HEG1	-	NULL	ENSG00000173706		0.468	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	256	0.00	0	G	XM_087386		124738108	124738108	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	missense	203	15.06	36	SNP	0.010	A
HEG1	57493	genome.wustl.edu	37	3	124739797	124739797	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:124739797C>T	ENST00000311127.4	-	4	1158	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	364					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTGGCAATTCTGGAGTCCTT	0.522																																						dbGAP											0													102.0	107.0	105.0					3																	124739797		1999	4175	6174	-	-	-	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1091G>A	3.37:g.124739797C>T	ENSP00000311502:p.Arg364Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.R364K	ENST00000311127.4	37	c.1091	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	C	2.854	-0.237697	0.05944	.	.	ENSG00000173706	ENST00000311127	T	0.38722	1.12	5.02	-2.17	0.07059	.	.	.	.	.	T	0.28632	0.0709	L	0.34521	1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25012	-1.0144	9	0.29301	T	0.29	.	10.4032	0.44241	0.0:0.633:0.0:0.3669	.	364;364	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	K	364	ENSP00000311502:R364K	ENSP00000311502:R364K	R	-	2	0	HEG1	126222487	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.262000	0.08682	-0.242000	0.09667	-1.004000	0.02495	AGA	HEG1	-	NULL	ENSG00000173706		0.522	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	787	0.00	0	C	XM_087386		124739797	124739797	-1	no_errors	ENST00000311127	ensembl	human	known	69_37n	missense	592	22.38	171	SNP	0.000	T
HELLS	3070	genome.wustl.edu	37	10	96306253	96306253	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:96306253A>C	ENST00000348459.5	+	2	256	c.151A>C	c.(151-153)Aag>Cag	p.K51Q	HELLS_ENST00000394036.1_Missense_Mutation_p.K51Q|HELLS_ENST00000239026.6_Missense_Mutation_p.K51Q|HELLS_ENST00000371332.4_Missense_Mutation_p.K51Q|HELLS_ENST00000394045.1_Missense_Mutation_p.K51Q|HELLS_ENST00000394044.1_Missense_Mutation_p.K51Q	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATGCTGGAAAAGGTAATTTA	0.498																																						dbGAP											0													108.0	101.0	103.0					10																	96306253		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.151A>C	10.37:g.96306253A>C	ENSP00000239027:p.Lys51Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K51Q	ENST00000348459.5	37	c.151	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506351	0.44558	.	.	ENSG00000119969	ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000394036;ENST00000371332;ENST00000239026	T;T;D;T	0.95788	0.6;0.6;-3.81;0.6	5.58	3.28	0.37604	.	0.259681	0.43747	D	0.000539	D	0.91815	0.7410	L	0.42245	1.32	0.41142	D	0.985961	B;B;P;B	0.38827	0.041;0.221;0.649;0.02	B;B;B;B	0.39419	0.012;0.244;0.299;0.009	D	0.87832	0.2645	10	0.46703	T	0.11	-19.5185	7.954	0.30031	0.8317:0.0:0.1683:0.0	.	51;51;51;51	Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;HELLS_HUMAN	Q	35;51;51;51;51;51;51	ENSP00000239027:K51Q;ENSP00000377609:K51Q;ENSP00000377608:K51Q;ENSP00000360383:K51Q	ENSP00000239026:K51Q	K	+	1	0	HELLS	96296243	1.000000	0.71417	0.977000	0.42913	0.776000	0.43924	2.234000	0.43035	0.422000	0.26005	0.482000	0.46254	AAG	HELLS	-	NULL	ENSG00000119969		0.498	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	202	0.00	0	A	NM_018063		96306253	96306253	+1	no_errors	ENST00000371332	ensembl	human	known	69_37n	missense	97	33.56	49	SNP	0.997	C
HELZ	9931	genome.wustl.edu	37	17	65074572	65074572	+	Silent	SNP	G	G	A	rs566283236	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:65074572G>A	ENST00000358691.5	-	33	5791	c.5625C>T	c.(5623-5625)atC>atT	p.I1875I	HELZ_ENST00000580168.1_Silent_p.I1876I	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1875						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCGACTCCGCGATCTGCTTGT	0.607													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16213	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													140.0	141.0	140.0					17																	65074572		1960	4159	6119	-	-	-	SO:0001819	synonymous_variant	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5625C>T	17.37:g.65074572G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.I1875	ENST00000358691.5	37	c.5625	CCDS42374.1	17																																																																																			HELZ	-	NULL	ENSG00000198265		0.607	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	43	0.00	0	G	NM_014877		65074572	65074572	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.016	A
HELZ	9931	genome.wustl.edu	37	17	65105789	65105789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:65105789G>T	ENST00000358691.5	-	29	4098	c.3932C>A	c.(3931-3933)tCa>tAa	p.S1311*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.S1312*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1311						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTGTGGATTTGATTCCAAATC	0.378																																						dbGAP											0													109.0	104.0	105.0					17																	65105789		1849	4099	5948	-	-	-	SO:0001587	stop_gained	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3932C>A	17.37:g.65105789G>T	ENSP00000351524:p.Ser1311*	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S1311*	ENST00000358691.5	37	c.3932	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	44	10.955394	0.99494	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.71	5.71	0.89125	.	0.442778	0.24438	N	0.038537	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.686	19.8541	0.96750	0.0:0.0:1.0:0.0	.	.	.	.	X	1311	.	ENSP00000351524:S1311X	S	-	2	0	HELZ	62536251	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.042000	0.49815	2.695000	0.91970	0.637000	0.83480	TCA	HELZ	-	NULL	ENSG00000198265		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	369	0.27	1	G	NM_014877		65105789	65105789	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	nonsense	228	16.79	46	SNP	0.998	T
HELZ	9931	genome.wustl.edu	37	17	65110475	65110475	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:65110475G>A	ENST00000358691.5	-	28	4049	c.3883C>T	c.(3883-3885)Cga>Tga	p.R1295*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R1296*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1295						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCTGGTGTTCGAATCTTATTA	0.348																																						dbGAP											0													165.0	148.0	153.0					17																	65110475		1811	4081	5892	-	-	-	SO:0001587	stop_gained	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3883C>T	17.37:g.65110475G>A	ENSP00000351524:p.Arg1295*	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R1295*	ENST00000358691.5	37	c.3883	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	44	11.079332	0.99512	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.65	5.65	0.86999	.	0.192519	0.47093	D	0.000242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6795	18.4886	0.90838	0.0:0.0:1.0:0.0	.	.	.	.	X	1295	.	ENSP00000351524:R1295X	R	-	1	2	HELZ	62540937	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.250000	0.72435	2.667000	0.90743	0.544000	0.68410	CGA	HELZ	-	NULL	ENSG00000198265		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	825	0.00	0	G	NM_014877		65110475	65110475	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	nonsense	463	11.91	63	SNP	1.000	A
HELZ	9931	genome.wustl.edu	37	17	65116685	65116685	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:65116685C>T	ENST00000358691.5	-	27	3840	c.3674G>A	c.(3673-3675)cGa>cAa	p.R1225Q	HELZ_ENST00000580168.1_Missense_Mutation_p.R1226Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1225						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1225Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTAATAATTCGAGGATCAAC	0.408																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											171.0	156.0	161.0					17																	65116685		1937	4128	6065	-	-	-	SO:0001583	missense	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3674G>A	17.37:g.65116685C>T	ENSP00000351524:p.Arg1225Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R1225Q	ENST00000358691.5	37	c.3674	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663453	0.67700	.	.	ENSG00000198265	ENST00000358691	D	0.86432	-2.12	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	D	0.91686	0.5362	10	0.62326	D	0.03	-12.0924	20.0203	0.97492	0.0:1.0:0.0:0.0	.	1226;1225	B7ZLW2;P42694	.;HELZ_HUMAN	Q	1225	ENSP00000351524:R1225Q	ENSP00000351524:R1225Q	R	-	2	0	HELZ	62547147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.298000	0.78815	2.730000	0.93505	0.655000	0.94253	CGA	HELZ	-	NULL	ENSG00000198265		0.408	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	395	0.00	0	C	NM_014877		65116685	65116685	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	missense	249	11.35	32	SNP	1.000	T
HELZ	9931	genome.wustl.edu	37	17	65134098	65134098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:65134098G>A	ENST00000358691.5	-	22	3068	c.2902C>T	c.(2902-2904)Cga>Tga	p.R968*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R969*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	968						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTTTTTTCGAAGTTCAGCA	0.378																																						dbGAP											0													202.0	205.0	204.0					17																	65134098		2079	4211	6290	-	-	-	SO:0001587	stop_gained	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2902C>T	17.37:g.65134098G>A	ENSP00000351524:p.Arg968*	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R968*	ENST00000358691.5	37	c.2902	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	43	9.825446	0.99273	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5631	18.8583	0.92262	0.0:0.0:1.0:0.0	.	.	.	.	X	968	.	ENSP00000351524:R968X	R	-	1	2	HELZ	62564560	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.476000	0.97823	2.437000	0.82529	0.655000	0.94253	CGA	HELZ	-	NULL	ENSG00000198265		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	245	0.00	0	G	NM_014877		65134098	65134098	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	nonsense	145	16.67	29	SNP	1.000	A
HELZ	9931	genome.wustl.edu	37	17	65162700	65162700	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:65162700G>A	ENST00000358691.5	-	15	1955	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R597*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	597						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGGGTAATCGATTTAATTGA	0.403																																						dbGAP											0													110.0	102.0	104.0					17																	65162700		1862	4110	5972	-	-	-	SO:0001587	stop_gained	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1789C>T	17.37:g.65162700G>A	ENSP00000351524:p.Arg597*	Somatic		WXS	Illumina GAIIx	Phase_IV	I6L9H4	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R597*	ENST00000358691.5	37	c.1789	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.181903	0.98118	.	.	ENSG00000198265	ENST00000358691	.	.	.	5.83	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2668	13.8276	0.63359	0.0:0.0:0.7215:0.2785	.	.	.	.	X	597	.	ENSP00000351524:R597X	R	-	1	2	HELZ	62593162	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.536000	0.60636	1.433000	0.47394	0.491000	0.48974	CGA	HELZ	-	NULL	ENSG00000198265		0.403	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	HGNC	protein_coding	OTTHUMT00000447068.1	289	0.00	0	G	NM_014877		65162700	65162700	-1	no_errors	ENST00000358691	ensembl	human	known	69_37n	nonsense	115	19.01	27	SNP	1.000	A
HEPH	9843	genome.wustl.edu	37	X	65382719	65382719	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:65382719G>T	ENST00000374727.3	+	1	286		c.e1+1		HEPH_ENST00000441993.2_5'Flank|HEPH_ENST00000336279.5_5'Flank|HEPH_ENST00000419594.1_5'Flank|HEPH_ENST00000519389.1_Splice_Site	NM_138737.3	NP_620074.3	Q9BQS7	HEPH_HUMAN	hephaestin						cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCATCACAAAGTAAGAATATC	0.483																																						dbGAP											0													64.0	55.0	58.0					X																	65382719		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000374727.3:c.-5+1G>T	X.37:g.65382719G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Splice_Site	SNP	-	e1+1	ENST00000374727.3	37	c.149+1		X	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051654	0.36181	.	.	ENSG00000089472	ENST00000519389	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3127	0.60388	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HEPH	65299444	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	4.377000	0.59562	2.295000	0.77249	0.594000	0.82650	.	HEPH	-	-	ENSG00000089472		0.483	HEPH-201	KNOWN	basic|appris_candidate_longest	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000346499.1	224	0.00	0	G	NM_138737	Intron	65382719	65382719	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	splice_site	173	26.89	64	SNP	0.999	T
HEPH	9843	genome.wustl.edu	37	X	65390556	65390556	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:65390556G>A	ENST00000343002.2	+	1	808	c.144G>A	c.(142-144)acG>acA	p.T48T	HEPH_ENST00000441993.2_Silent_p.T51T|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000419594.1_Silent_p.T51T|HEPH_ENST00000519389.1_Silent_p.T102T|HEPH_ENST00000374727.3_Silent_p.T51T			Q9BQS7	HEPH_HUMAN	hephaestin	48	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTCATCACGAACCAGCCTC	0.512																																						dbGAP											0													99.0	62.0	74.0					X																	65390556		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.144G>A	X.37:g.65390556G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.T102	ENST00000343002.2	37	c.306		X																																																																																			HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.512	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	253	0.39	1	G	NM_138737		65390556	65390556	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	silent	135	23.60	42	SNP	0.535	A
HEPH	9843	genome.wustl.edu	37	X	65408350	65408350	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:65408350G>A	ENST00000343002.2	+	4	1439	c.775G>A	c.(775-777)Gat>Aat	p.D259N	HEPH_ENST00000441993.2_Missense_Mutation_p.D262N|HEPH_ENST00000336279.5_De_novo_Start_OutOfFrame|HEPH_ENST00000419594.1_Missense_Mutation_p.D262N|HEPH_ENST00000519389.1_Missense_Mutation_p.D313N|HEPH_ENST00000374727.3_Missense_Mutation_p.D262N			Q9BQS7	HEPH_HUMAN	hephaestin	259	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGACAAAGAAGATGAGACATT	0.478																																						dbGAP											0													157.0	109.0	125.0					X																	65408350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.775G>A	X.37:g.65408350G>A	ENSP00000343939:p.Asp259Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.D313N	ENST00000343002.2	37	c.937		X	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633365	0.67015	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	4.78	4.78	0.61160	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.78344	2.41	0.47994	D	0.999561	B;D;D	0.69078	0.34;0.997;0.971	B;D;P	0.67103	0.196;0.949;0.839	D	0.98657	1.0682	10	0.29301	T	0.29	.	15.461	0.75356	0.0:0.0:1.0:0.0	.	313;262;259	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	N	313;262;262;262;259;259	ENSP00000430620:D313N;ENSP00000363859:D262N;ENSP00000411687:D262N;ENSP00000413211:D262N;ENSP00000343939:D259N;ENSP00000398078:D259N	ENSP00000343939:D259N	D	+	1	0	HEPH	65325075	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.381000	0.59587	1.944000	0.56390	0.594000	0.82650	GAT	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	345	0.00	0	G	NM_138737		65408350	65408350	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	196	29.24	81	SNP	1.000	A
HEPHL1	341208	genome.wustl.edu	37	11	93803679	93803679	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:93803679C>A	ENST00000315765.9	+	6	1211	c.1203C>A	c.(1201-1203)ttC>ttA	p.F401L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	401	Plastocyanin-like 3.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAACAAATTCAGTGGTCTTC	0.438																																						dbGAP											0													60.0	55.0	57.0					11																	93803679		1847	4084	5931	-	-	-	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.1203C>A	11.37:g.93803679C>A	ENSP00000313699:p.Phe401Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.F401L	ENST00000315765.9	37	c.1203	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439531	0.43326	.	.	ENSG00000181333	ENST00000315765	D	0.98762	-5.12	5.7	3.77	0.43336	Cupredoxin (2);	0.329762	0.36591	N	0.002501	D	0.94948	0.8366	N	0.25094	0.71	0.31393	N	0.677593	B	0.09022	0.002	B	0.13407	0.009	D	0.91025	0.4860	10	0.21014	T	0.42	.	8.6465	0.34009	0.0:0.7605:0.0:0.2395	.	401	Q6MZM0	HPHL1_HUMAN	L	401	ENSP00000313699:F401L	ENSP00000313699:F401L	F	+	3	2	HEPHL1	93443327	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	1.629000	0.37071	0.689000	0.31550	0.650000	0.86243	TTC	HEPHL1	-	superfamily_Cupredoxin	ENSG00000181333		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	152	0.00	0	C	XM_291947		93803679	93803679	+1	no_errors	ENST00000315765	ensembl	human	known	69_37n	missense	111	18.38	25	SNP	0.999	A
HEPHL1	341208	genome.wustl.edu	37	11	93826752	93826752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:93826752G>T	ENST00000315765.9	+	13	2388	c.2380G>T	c.(2380-2382)Gaa>Taa	p.E794*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	794	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGATGGAGAATTTGTGGA	0.478																																						dbGAP											0													152.0	148.0	149.0					11																	93826752		1916	4135	6051	-	-	-	SO:0001587	stop_gained	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2380G>T	11.37:g.93826752G>T	ENSP00000313699:p.Glu794*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3C1W7	Nonsense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.E794*	ENST00000315765.9	37	c.2380	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.623720	0.98396	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.68	5.68	0.88126	.	0.273895	0.42682	D	0.000670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.1796	0.37134	0.0819:0.1487:0.7694:0.0	.	.	.	.	X	794	.	ENSP00000313699:E794X	E	+	1	0	HEPHL1	93466400	0.530000	0.26330	1.000000	0.80357	0.997000	0.91878	3.167000	0.50793	2.687000	0.91594	0.549000	0.68633	GAA	HEPHL1	-	superfamily_Cupredoxin	ENSG00000181333		0.478	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	421	0.00	0	G	XM_291947		93826752	93826752	+1	no_errors	ENST00000315765	ensembl	human	known	69_37n	nonsense	244	15.52	45	SNP	0.996	T
HERC1	8925	genome.wustl.edu	37	15	63908103	63908103	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:63908103G>T	ENST00000443617.2	-	76	14045	c.13958C>A	c.(13957-13959)tCt>tAt	p.S4653Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4653	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCAACAAAAGAATCAAGAGG	0.378																																						dbGAP											0													49.0	43.0	45.0					15																	63908103		1857	4103	5960	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13958C>A	15.37:g.63908103G>T	ENSP00000390158:p.Ser4653Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S4653Y	ENST00000443617.2	37	c.13958	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707332	0.89018	.	.	ENSG00000103657	ENST00000443617	T	0.56444	0.46	5.61	5.61	0.85477	HECT (4);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	L	0.38692	1.165	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66492	-0.5910	10	0.59425	D	0.04	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	4653	Q15751	HERC1_HUMAN	Y	4653	ENSP00000390158:S4653Y	ENSP00000390158:S4653Y	S	-	2	0	HERC1	61695156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	TCT	HERC1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000103657		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	209	0.00	0	G	NM_003922		63908103	63908103	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	174	16.75	35	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	63908799	63908799	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:63908799G>A	ENST00000443617.2	-	75	13858	c.13771C>T	c.(13771-13773)Cgc>Tgc	p.R4591C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4591	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTTTGTGCGAATGGCAACC	0.488																																						dbGAP											0													51.0	51.0	51.0					15																	63908799		1862	4102	5964	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13771C>T	15.37:g.63908799G>A	ENSP00000390158:p.Arg4591Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R4591C	ENST00000443617.2	37	c.13771	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.120742	0.94385	.	.	ENSG00000103657	ENST00000443617	T	0.57907	0.37	5.04	5.04	0.67666	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74578	-0.3619	10	0.87932	D	0	.	18.7804	0.91930	0.0:0.0:1.0:0.0	.	4591	Q15751	HERC1_HUMAN	C	4591	ENSP00000390158:R4591C	ENSP00000390158:R4591C	R	-	1	0	HERC1	61695852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.491000	0.84063	0.555000	0.69702	CGC	HERC1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000103657		0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	175	0.00	0	G	NM_003922		63908799	63908799	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	143	16.37	28	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	63932406	63932406	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:63932406G>T	ENST00000443617.2	-	61	11933	c.11846C>A	c.(11845-11847)tCt>tAt	p.S3949Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3949					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AACGGTAAAAGATTCTGGAAA	0.428																																						dbGAP											0													122.0	122.0	122.0					15																	63932406		1878	4102	5980	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11846C>A	15.37:g.63932406G>T	ENSP00000390158:p.Ser3949Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S3949Y	ENST00000443617.2	37	c.11846	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248223	0.59103	.	.	ENSG00000103657	ENST00000443617	T	0.26518	1.73	5.72	5.72	0.89469	.	0.072567	0.56097	D	0.000029	T	0.25754	0.0627	L	0.47716	1.5	0.48395	D	0.999643	P	0.39576	0.679	B	0.37833	0.259	T	0.01675	-1.1298	10	0.46703	T	0.11	.	14.7131	0.69247	0.0:0.2646:0.7354:0.0	.	3949	Q15751	HERC1_HUMAN	Y	3949	ENSP00000390158:S3949Y	ENSP00000390158:S3949Y	S	-	2	0	HERC1	61719459	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.571000	0.74000	2.711000	0.92665	0.655000	0.94253	TCT	HERC1	-	NULL	ENSG00000103657		0.428	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	272	0.00	0	G	NM_003922		63932406	63932406	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	214	11.20	27	SNP	1.000	T
HERC1	8925	genome.wustl.edu	37	15	64005029	64005029	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:64005029G>A	ENST00000443617.2	-	24	4616	c.4529C>T	c.(4528-4530)tCg>tTg	p.S1510L	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1510					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCACTCCTCGATTTGATCAG	0.398																																						dbGAP											0													71.0	66.0	68.0					15																	64005029		1891	4102	5993	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4529C>T	15.37:g.64005029G>A	ENSP00000390158:p.Ser1510Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.S1510L	ENST00000443617.2	37	c.4529	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722020	0.89298	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.28255	1.62	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000003	T	0.44286	0.1286	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.72982	0.979;0.921	T	0.46884	-0.9159	10	0.87932	D	0	.	19.2536	0.93935	0.0:0.0:1.0:0.0	.	494;1510	B4DKS2;Q15751	.;HERC1_HUMAN	L	1510;494	ENSP00000390158:S1510L	ENSP00000389613:S494L	S	-	2	0	HERC1	61792082	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.278000	0.95766	2.619000	0.88677	0.561000	0.74099	TCG	HERC1	-	NULL	ENSG00000103657		0.398	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	200	0.00	0	G	NM_003922		64005029	64005029	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	143	13.33	22	SNP	1.000	A
HERC2P3	283755	genome.wustl.edu	37	15	20644043	20644043	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:20644043C>A	ENST00000428453.1	-	0	3416							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTCAGGGTTCTCGGAATCAG	0.602																																						dbGAP											0													41.0	33.0	36.0					15																	20644043		2192	4275	6467	-	-	-			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644043C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.602	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	112	0.00	0	C	NG_008269		20644043	20644043	-1	no_errors	ENST00000426501	ensembl	human	known	69_37n	rna	49	21.88	14	SNP	1.000	A
HERC2P3	283755	genome.wustl.edu	37	15	20645894	20645894	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:20645894G>A	ENST00000428453.1	-	0	2871							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGTACACCAGCCTGTTTGGA	0.512																																						dbGAP											0													46.0	36.0	39.0					15																	20645894		2184	4220	6404	-	-	-			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645894G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.512	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	98	0.00	0	G	NG_008269		20645894	20645894	-1	no_errors	ENST00000426501	ensembl	human	known	69_37n	rna	45	13.46	7	SNP	1.000	A
HERC2P3	283755	genome.wustl.edu	37	15	20666556	20666556	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:20666556G>T	ENST00000428453.1	-	0	762							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGAGGAGAGACTCCCCAGA	0.438																																						dbGAP											0													8.0	7.0	7.0					15																	20666556		2064	4033	6097	-	-	-			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20666556G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.438	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	109	0.00	0	G	NG_008269		20666556	20666556	-1	no_errors	ENST00000428453	ensembl	human	known	69_37n	rna	62	16.22	12	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28408347	28408347	+	Missense_Mutation	SNP	G	G	A	rs559745379		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:28408347G>A	ENST00000261609.7	-	69	10747	c.10639C>T	c.(10639-10641)Cgt>Tgt	p.R3547C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCACCACACGAGTGTCATCC	0.577																																						dbGAP											0													118.0	105.0	110.0					15																	28408347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10639C>T	15.37:g.28408347G>A	ENSP00000261609:p.Arg3547Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.R3547C	ENST00000261609.7	37	c.10639	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063278	0.76187	.	.	ENSG00000128731	ENST00000261609	T	0.49139	0.79	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.67090	-0.5758	10	0.87932	D	0	.	14.716	0.69269	0.0:0.0:0.8545:0.1455	.	3547	O95714	HERC2_HUMAN	C	3547	ENSP00000261609:R3547C	ENSP00000261609:R3547C	R	-	1	0	HERC2	26081942	1.000000	0.71417	0.650000	0.29550	0.741000	0.42261	6.551000	0.73909	2.550000	0.86006	0.655000	0.94253	CGT	HERC2	-	NULL	ENSG00000128731		0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	263	0.00	0	G	NM_004667		28408347	28408347	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	135	34.47	71	SNP	0.991	A
HERC2	8924	genome.wustl.edu	37	15	28414741	28414741	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:28414741G>T	ENST00000261609.7	-	66	10226	c.10118C>A	c.(10117-10119)tCt>tAt	p.S3373Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATTTGGCTTAGAATTACTTGC	0.383																																						dbGAP											0													92.0	91.0	92.0					15																	28414741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10118C>A	15.37:g.28414741G>T	ENSP00000261609:p.Ser3373Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S3373Y	ENST00000261609.7	37	c.10118	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751155	0.31046	.	.	ENSG00000128731	ENST00000261609	T	0.39997	1.05	5.74	2.81	0.32909	.	0.330709	0.33813	N	0.004532	T	0.33789	0.0875	L	0.55481	1.735	0.09310	N	1	B	0.24823	0.112	B	0.19148	0.024	T	0.28004	-1.0057	10	0.54805	T	0.06	.	6.707	0.23257	0.2066:0.1324:0.661:0.0	.	3373	O95714	HERC2_HUMAN	Y	3373	ENSP00000261609:S3373Y	ENSP00000261609:S3373Y	S	-	2	0	HERC2	26088336	0.639000	0.27234	0.040000	0.18447	0.318000	0.28184	1.229000	0.32600	0.427000	0.26145	0.643000	0.83706	TCT	HERC2	-	NULL	ENSG00000128731		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	247	0.00	0	G	NM_004667		28414741	28414741	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	125	15.54	23	SNP	0.006	T
HERC2P9	440248	genome.wustl.edu	37	15	28913446	28913446	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:28913446G>A	ENST00000528584.1	+	0	1268					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TACAAAAACCGAGCTGGTTTC	0.378																																						dbGAP											0																																										-	-	-			0			BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28913446G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000528584.1	37	NULL		15																																																																																			HERC2P9	-	-	ENSG00000206149		0.378	HERC2P9-002	KNOWN	basic	processed_transcript	HERC2P9	HGNC	pseudogene	OTTHUMT00000393268.1	73	0.00	0	G	NR_036443		28913446	28913446	+1	no_errors	ENST00000528584	ensembl	human	known	69_37n	rna	43	25.86	15	SNP	1.000	A
HERC1	8925	genome.wustl.edu	37	15	64025137	64025137	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:64025137A>C	ENST00000443617.2	-	14	2941	c.2854T>G	c.(2854-2856)Tta>Gta	p.L952V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	952					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAAAATCCTAAATTTCTTAAG	0.378																																						dbGAP											0													33.0	32.0	32.0					15																	64025137		1798	4066	5864	-	-	-	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2854T>G	15.37:g.64025137A>C	ENSP00000390158:p.Leu952Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L952V	ENST00000443617.2	37	c.2854	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267437	0.59540	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.55	4.43	0.53597	.	0.000000	0.50627	U	0.000112	T	0.15522	0.0374	N	0.24115	0.695	0.47374	D	0.999405	P	0.38148	0.62	B	0.36244	0.22	T	0.05321	-1.0892	10	0.29301	T	0.29	.	9.0488	0.36363	0.8591:0.0:0.1409:0.0	.	952	Q15751	HERC1_HUMAN	V	952	ENSP00000390158:L952V	ENSP00000390158:L952V	L	-	1	2	HERC1	61812190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.025000	0.30090	2.094000	0.63399	0.533000	0.62120	TTA	HERC1	-	NULL	ENSG00000103657		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	120	0.00	0	A	NM_003922		64025137	64025137	-1	no_errors	ENST00000443617	ensembl	human	known	69_37n	missense	79	36.29	45	SNP	1.000	C
HERC3	8916	genome.wustl.edu	37	4	89627934	89627934	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:89627934C>A	ENST00000402738.1	+	26	3215	c.2976C>A	c.(2974-2976)atC>atA	p.I992I	HERC3_ENST00000264345.3_Silent_p.I992I|HERC3_ENST00000543130.1_Silent_p.I436I	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	992	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGATTCCCATCTACGGCATGG	0.547											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													84.0	69.0	74.0					4																	89627934		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2976C>A	4.37:g.89627934C>A		Somatic	1268	WXS	Illumina GAIIx	Phase_IV	A8K1S5|Q8IXX3	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.I992	ENST00000402738.1	37	c.2976	CCDS34028.1	4																																																																																			HERC3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138641		0.547	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2	182	0.55	1	C	NM_014606		89627934	89627934	+1	no_errors	ENST00000264345	ensembl	human	known	69_37n	silent	190	14.80	33	SNP	1.000	A
HERC4	26091	genome.wustl.edu	37	10	69773908	69773908	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:69773908C>T	ENST00000395198.3	-	9	1191	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	HERC4_ENST00000412272.2_Missense_Mutation_p.R315Q|HERC4_ENST00000277817.6_Missense_Mutation_p.R205Q|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.R315Q	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	315					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGAGTAAATTCGTCCTGATGA	0.408																																						dbGAP											0													74.0	69.0	71.0					10																	69773908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.944G>A	10.37:g.69773908C>T	ENSP00000378624:p.Arg315Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R315Q	ENST00000395198.3	37	c.944	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550296	0.86127	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	4.75	4.75	0.60458	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.222041	0.43110	D	0.000609	D	0.85496	0.5710	L	0.38692	1.165	0.80722	D	1	D;B;D;D;D	0.63046	0.991;0.419;0.992;0.99;0.992	P;B;P;P;P	0.53035	0.69;0.187;0.716;0.593;0.716	D	0.85817	0.1383	10	0.42905	T	0.14	.	17.6957	0.88281	0.0:1.0:0.0:0.0	.	315;315;165;315;315	Q5GLZ8-3;A8K9U4;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	Q	205;315;315;315	ENSP00000277817:R205Q;ENSP00000416504:R315Q;ENSP00000378624:R315Q;ENSP00000362804:R315Q	ENSP00000277817:R205Q	R	-	2	0	HERC4	69443914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.583000	0.60964	2.347000	0.79759	0.655000	0.94253	CGA	HERC4	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000148634		0.408	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	229	0.00	0	C	NM_015601		69773908	69773908	-1	no_errors	ENST00000395198	ensembl	human	known	69_37n	missense	158	13.66	25	SNP	1.000	T
HERC6	55008	genome.wustl.edu	37	4	89311819	89311819	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:89311819C>T	ENST00000264346.7	+	4	511	c.452C>T	c.(451-453)tCg>tTg	p.S151L	HERC6_ENST00000273960.3_Missense_Mutation_p.S151L|HERC6_ENST00000380265.5_Missense_Mutation_p.S151L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	151					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAAGTGTTTTCGTGGGGAAAG	0.463																																						dbGAP											0													29.0	33.0	31.0					4																	89311819		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.452C>T	4.37:g.89311819C>T	ENSP00000264346:p.Ser151Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S151L	ENST00000264346.7	37	c.452	CCDS47098.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.395006|3.395006	0.62066|0.62066	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000502870|ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	.|D;D;D	.|0.87334	.|-2.24;-2.24;-2.24	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.114391	.|0.38837	.|N	.|0.001559	D|D	0.93229|0.93229	0.7843|0.7843	M|M	0.78916|0.78916	2.43|2.43	0.34012|0.34012	D|D	0.651547|0.651547	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.95827|0.95827	0.8855|0.8855	5|10	.|0.66056	.|D	.|0.02	.|.	16.8291|16.8291	0.85939|0.85939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|151;151	.|Q8IVU3-2;Q8IVU3	.|.;HERC6_HUMAN	C|L	116|151	.|ENSP00000369617:S151L;ENSP00000273960:S151L;ENSP00000264346:S151L	.|ENSP00000264346:S151L	R|S	+|+	1|2	0|0	HERC6|HERC6	89530842|89530842	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.951000|0.951000	0.60555|0.60555	5.302000|5.302000	0.65733|0.65733	2.568000|2.568000	0.86640|0.86640	0.453000|0.453000	0.30009|0.30009	CGT|TCG	HERC6	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000138642		0.463	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	159	0.00	0	C			89311819	89311819	+1	no_errors	ENST00000264346	ensembl	human	known	69_37n	missense	105	16.92	22	SNP	1.000	T
HERC6	55008	genome.wustl.edu	37	4	89345805	89345805	+	Missense_Mutation	SNP	C	C	T	rs560103087		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:89345805C>T	ENST00000264346.7	+	15	1945	c.1886C>T	c.(1885-1887)tCg>tTg	p.S629L	HERC6_ENST00000380265.5_Intron	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	629					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATCTTTAATTCGCTATCCAAA	0.259													c|||	1	0.000199681	0.0	0.0014	5008	,	,		16121	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	57.0	58.0					4																	89345805		1782	4058	5840	-	-	-	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1886C>T	4.37:g.89345805C>T	ENSP00000264346:p.Ser629Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S629L	ENST00000264346.7	37	c.1886	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.210457	0.00292	.	.	ENSG00000138642	ENST00000264346	T	0.73363	-0.74	4.51	-1.12	0.09808	.	1.568630	0.03851	N	0.272279	T	0.36908	0.0984	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43343	-0.9397	10	0.07813	T	0.8	.	7.9781	0.30166	0.0:0.2804:0.0:0.7196	.	629	Q8IVU3	HERC6_HUMAN	L	629	ENSP00000264346:S629L	ENSP00000264346:S629L	S	+	2	0	HERC6	89564828	0.046000	0.20272	0.006000	0.13384	0.296000	0.27459	0.007000	0.13174	-0.171000	0.10797	-1.667000	0.00748	TCG	HERC6	-	NULL	ENSG00000138642		0.259	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	233	0.00	0	C			89345805	89345805	+1	no_errors	ENST00000264346	ensembl	human	known	69_37n	missense	113	15.56	21	SNP	0.014	T
HESX1	8820	genome.wustl.edu	37	3	57232295	57232295	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:57232295A>C	ENST00000295934.3	-	4	524	c.488T>G	c.(487-489)cTg>cGg	p.L163R	HESX1_ENST00000473921.1_Missense_Mutation_p.L129R	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	163					brain development (GO:0007420)|forebrain morphogenesis (GO:0048853)|negative regulation of transcription, DNA-templated (GO:0045892)|nose development (GO:0043584)|otic vesicle formation (GO:0030916)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GGACCTTTTCAGTTTTGCACG	0.294																																					Esophageal Squamous(84;267 1272 9034 48993 52677)	dbGAP											0													63.0	62.0	62.0					3																	57232295		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF059734	CCDS2881.1	3p14.3	2014-06-16	2007-02-16		ENSG00000163666	ENSG00000163666		"""Homeoboxes / PRD class"""	4877	protein-coding gene	gene with protein product		601802	"""homeobox, ES cell expressed 1"""			9373136, 9620767, 7876132	Standard	NM_003865		Approved	RPX, ANF	uc003din.4	Q9UBX0	OTTHUMG00000158597	ENST00000295934.3:c.488T>G	3.37:g.57232295A>C	ENSP00000295934:p.Leu163Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LC5|Q99667	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L163R	ENST00000295934.3	37	c.488	CCDS2881.1	3	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967690	0.74131	.	.	ENSG00000163666	ENST00000295934;ENST00000473921	D;D	0.96011	-3.88;-3.57	5.25	5.25	0.73442	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.089733	0.46145	D	0.000307	D	0.95909	0.8668	L	0.35542	1.07	0.47094	D	0.999312	D	0.76494	0.999	D	0.70227	0.968	D	0.96772	0.9569	10	0.87932	D	0	-7.5078	15.4586	0.75336	1.0:0.0:0.0:0.0	.	163	Q9UBX0	HESX1_HUMAN	R	163;129	ENSP00000295934:L163R;ENSP00000418918:L129R	ENSP00000295934:L163R	L	-	2	0	HESX1	57207335	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.337000	0.79256	2.116000	0.64780	0.397000	0.26171	CTG	HESX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000163666		0.294	HESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HESX1	HGNC	protein_coding	OTTHUMT00000351430.2	193	0.00	0	A			57232295	57232295	-1	no_errors	ENST00000295934	ensembl	human	known	69_37n	missense	122	35.11	66	SNP	1.000	C
HEY2	23493	genome.wustl.edu	37	6	126073205	126073205	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:126073205G>A	ENST00000368364.3	+	3	412	c.215G>A	c.(214-216)aGa>aAa	p.R72K	RP11-624M8.1_ENST00000432121.1_RNA|RP11-624M8.1_ENST00000451660.2_RNA|RP11-624M8.1_ENST00000606001.1_RNA|HEY2_ENST00000368365.1_Missense_Mutation_p.R26K	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	72	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCTGAGTTGAGAAGACTTGTG	0.413																																						dbGAP											0													77.0	85.0	82.0					6																	126073205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.215G>A	6.37:g.126073205G>A	ENSP00000357348:p.Arg72Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd,prints_Antifreeze_1	p.R72K	ENST00000368364.3	37	c.215	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049425	0.93740	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	D;D	0.98150	-4.75;-4.75	5.77	5.77	0.91146	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	N	0.12611	0.24	0.58432	D	0.999999	B	0.26577	0.153	B	0.38985	0.287	D	0.88928	0.3371	10	0.02654	T	1	-6.1945	19.9926	0.97371	0.0:0.0:1.0:0.0	.	72	Q9UBP5	HEY2_HUMAN	K	26;72	ENSP00000357349:R26K;ENSP00000357348:R72K	ENSP00000357348:R72K	R	+	2	0	HEY2	126114898	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.729000	0.93468	0.467000	0.42956	AGA	HEY2	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000135547		0.413	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	94	0.00	0	G			126073205	126073205	+1	no_errors	ENST00000368364	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	1.000	A
HFM1	164045	genome.wustl.edu	37	1	91726751	91726751	+	3'UTR	SNP	G	G	A	rs79868049	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:91726751G>A	ENST00000370425.3	-	0	4502				Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_3'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)						resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAAAAATCCGAACAATTATG	0.269													G|||	23	0.00459265	0.0	0.0014	5008	,	,		14450	0.0188		0.003	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.*96C>T	1.37:g.91726751G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1B0B6|Q8N9Q0	RNA	SNP	-	NULL	ENST00000370425.3	37	NULL	CCDS30769.2	1																																																																																			HFM1	-	-	ENSG00000162669		0.269	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	77	0.00	0	G	NM_001017975		91726751	91726751	-1	no_errors	ENST00000462405	ensembl	human	known	69_37n	rna	36	21.74	10	SNP	0.000	A
HGF	3082	genome.wustl.edu	37	7	81339469	81339469	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:81339469C>A	ENST00000222390.5	-	13	1761	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	HGF_ENST00000457544.2_Missense_Mutation_p.R507I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	512	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTACCTGTATCTCAAACTAAC	0.388																																						dbGAP											0													145.0	121.0	129.0					7																	81339469		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1535G>T	7.37:g.81339469C>A	ENSP00000222390:p.Arg512Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R512I	ENST00000222390.5	37	c.1535	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194463	0.38806	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	D;D	0.88664	-2.41;-2.41	5.2	3.97	0.46021	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.308416	0.40469	N	0.001089	D	0.83599	0.5289	L	0.57536	1.79	0.80722	D	1	B;B	0.19817	0.031;0.039	B;B	0.21546	0.02;0.035	T	0.74077	-0.3781	10	0.20519	T	0.43	.	5.6359	0.17536	0.0:0.158:0.1561:0.6859	.	507;512	P14210-3;P14210	.;HGF_HUMAN	I	512;507	ENSP00000222390:R512I;ENSP00000391238:R507I	ENSP00000222390:R512I	R	-	2	0	HGF	81177405	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.319000	0.33655	0.904000	0.36572	-0.455000	0.05494	AGA	HGF	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000019991		0.388	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	329	0.00	0	C	NM_000601		81339469	81339469	-1	no_errors	ENST00000222390	ensembl	human	known	69_37n	missense	197	21.20	53	SNP	1.000	A
HHATL	57467	genome.wustl.edu	37	3	42739819	42739820	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:42739819_42739820insA	ENST00000441594.1	-	6	768_769	c.507_508insT	c.(505-510)tttgatfs	p.D170fs	HHATL_ENST00000310417.5_Frame_Shift_Ins_p.D170fs	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	170					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TCTTGAAGATCAAAAGTGCCTG	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.508dupT	3.37:g.42739823_42739823dupA	ENSP00000405423:p.Asp170fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBG3|Q9ULP7	Frame_Shift_Ins	INS	pfam_MBOAT_fam	p.D169fs	ENST00000441594.1	37	c.508_507	CCDS2704.1	3																																																																																			HHATL	-	NULL	ENSG00000010282		0.569	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HHATL	HGNC	protein_coding	OTTHUMT00000343627.1	166	0.00	0	-	NM_020707		42739819	42739820	-1	no_errors	ENST00000310417	ensembl	human	known	69_37n	frame_shift_ins	114	14.93	20	INS	1.000:1.000	A
HHIPL2	79802	genome.wustl.edu	37	1	222716994	222716994	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:222716994G>A	ENST00000343410.6	-	2	917	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	287					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.R287C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TAGAACTTGCGATTGTGGCGG	0.473																																						dbGAP											1	Substitution - Missense(1)	NS(1)											129.0	147.0	141.0					1																	222716994		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.859C>T	1.37:g.222716994G>A	ENSP00000342118:p.Arg287Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.R287C	ENST00000343410.6	37	c.859	CCDS1530.2	1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445519	0.63178	.	.	ENSG00000143512	ENST00000343410	T	0.11930	2.73	5.2	3.24	0.37175	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.306110	0.31636	N	0.007310	T	0.36303	0.0962	M	0.85041	2.73	0.42479	D	0.992853	D	0.76494	0.999	D	0.64877	0.93	T	0.19031	-1.0318	10	0.72032	D	0.01	-17.3546	10.3123	0.43716	0.0:0.4435:0.4279:0.1285	.	287	Q6UWX4	HIPL2_HUMAN	C	287	ENSP00000342118:R287C	ENSP00000342118:R287C	R	-	1	0	HHIPL2	220783617	0.716000	0.27956	0.995000	0.50966	0.983000	0.72400	2.250000	0.43178	0.503000	0.28060	0.467000	0.42956	CGC	HHIPL2	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	122	0.00	0	G	NM_024746		222716994	222716994	-1	no_errors	ENST00000343410	ensembl	human	known	69_37n	missense	90	30.77	40	SNP	1.000	A
HIBADH	11112	genome.wustl.edu	37	7	27582704	27582704	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:27582704C>T	ENST00000265395.2	-	5	706	c.500G>A	c.(499-501)cGa>cAa	p.R167Q		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	167					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			GTTCCCAGATCGTGCAGCTCC	0.443																																						dbGAP											0													82.0	69.0	73.0					7																	27582704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.500G>A	7.37:g.27582704C>T	ENSP00000265395:p.Arg167Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q546Z2|Q9UDN3	Missense_Mutation	SNP	pfam_6PGDH_NADP-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,tigrfam_IsoBut3OH_DH	p.R167Q	ENST00000265395.2	37	c.500	CCDS5414.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.864890|2.864890	0.51482|0.51482	.|.	.|.	ENSG00000106049|ENSG00000106049	ENST00000425715|ENST00000265395	.|T	.|0.33216	.|1.42	5.92|5.92	5.04|5.04	0.67666|0.67666	.|6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	.|0.107611	.|0.64402	.|D	.|0.000006	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.17838|0.17838	0.53|0.53	0.49130|0.49130	D|D	0.999754|0.999754	.|B;B	.|0.15473	.|0.013;0.013	.|B;B	.|0.10450	.|0.005;0.005	T|T	0.05517|0.05517	-1.0880|-1.0880	5|10	.|0.12766	.|T	.|0.61	-15.6505|-15.6505	15.5084|15.5084	0.75760|0.75760	0.0:0.9327:0.0:0.0673|0.0:0.9327:0.0:0.0673	.|.	.|167;167	.|Q546Z2;P31937	.|.;3HIDH_HUMAN	N|Q	110|167	.|ENSP00000265395:R167Q	.|ENSP00000265395:R167Q	D|R	-|-	1|2	0|0	HIBADH|HIBADH	27549229|27549229	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	3.919000|3.919000	0.56439|0.56439	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GAT|CGA	HIBADH	-	pfam_6PGDH_NADP-bd,tigrfam_IsoBut3OH_DH	ENSG00000106049		0.443	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBADH	HGNC	protein_coding	OTTHUMT00000214132.1	462	0.00	0	C	NM_152740		27582704	27582704	-1	no_errors	ENST00000265395	ensembl	human	known	69_37n	missense	267	14.70	46	SNP	0.998	T
HIF1A	3091	genome.wustl.edu	37	14	62207327	62207327	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:62207327G>T	ENST00000337138.4	+	11	1906	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N	HIF1A_ENST00000539097.1_Missense_Mutation_p.K571N|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.K548N|HIF1A_ENST00000557538.1_Missense_Mutation_p.K488N|HIF1A_ENST00000323441.6_Missense_Mutation_p.K547N	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	547	NTAD.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	CAGAAGCAAAGAACCCATTTT	0.284																																						dbGAP											0													82.0	82.0	82.0					14																	62207327		2203	4299	6502	-	-	-	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1641G>T	14.37:g.62207327G>T	ENSP00000338018:p.Lys547Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS	p.K571N	ENST00000337138.4	37	c.1713	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888569	0.52014	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.57752	0.5;0.5;0.38;0.5;0.49	6.16	3.37	0.38596	.	0.148062	0.64402	D	0.000010	T	0.65780	0.2724	M	0.75615	2.305	0.54753	D	0.999983	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.62649	0.905;0.905;0.905	T	0.65405	-0.6176	10	0.87932	D	0	.	7.7987	0.29162	0.4232:0.0:0.5768:0.0	.	548;547;547	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	N	298;488;547;548;547;488;571	ENSP00000338018:K547N;ENSP00000378446:K548N;ENSP00000323326:K547N;ENSP00000451696:K488N;ENSP00000437955:K571N	ENSP00000323326:K547N	K	+	3	2	HIF1A	61277080	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.000000	0.40816	0.481000	0.27557	0.650000	0.86243	AAG	HIF1A	-	NULL	ENSG00000100644		0.284	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	139	0.00	0	G	NM_001530		62207327	62207327	+1	no_errors	ENST00000539097	ensembl	human	known	69_37n	missense	126	16.56	25	SNP	1.000	T
HIF1A	3091	genome.wustl.edu	37	14	62207493	62207493	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:62207493G>T	ENST00000337138.4	+	12	1945	c.1680G>T	c.(1678-1680)gaG>gaT	p.E560D	HIF1A_ENST00000539097.1_Missense_Mutation_p.E584D|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.E561D|HIF1A_ENST00000557538.1_Missense_Mutation_p.E501D|HIF1A_ENST00000323441.6_Missense_Mutation_p.E560D	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	560	C-terminal VHL recognition site.|NTAD.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TAGACTTGGAGATGTTAGCTC	0.393																																						dbGAP											0													138.0	132.0	134.0					14																	62207493		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1680G>T	14.37:g.62207493G>T	ENSP00000338018:p.Glu560Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS	p.E584D	ENST00000337138.4	37	c.1752	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820009	0.71028	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	6.02	3.18	0.36537	.	0.094319	0.64402	D	0.000001	D	0.92867	0.7731	L	0.51422	1.61	0.54753	D	0.999983	P;P;P	0.35944	0.529;0.529;0.529	P;P;P	0.51833	0.681;0.609;0.609	D	0.92357	0.5894	10	0.87932	D	0	.	11.5245	0.50571	0.2934:0.0:0.7066:0.0	.	561;560;560	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	D	311;501;560;561;560;501;584	ENSP00000338018:E560D;ENSP00000378446:E561D;ENSP00000323326:E560D;ENSP00000451696:E501D;ENSP00000437955:E584D	ENSP00000323326:E560D	E	+	3	2	HIF1A	61277246	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.322000	0.52007	0.867000	0.35654	-0.142000	0.14014	GAG	HIF1A	-	pfam_HIF_alpha_subunit	ENSG00000100644		0.393	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	132	0.00	0	G	NM_001530		62207493	62207493	+1	no_errors	ENST00000539097	ensembl	human	known	69_37n	missense	107	18.32	24	SNP	1.000	T
HINFP	25988	genome.wustl.edu	37	11	119003411	119003411	+	Silent	SNP	G	G	A	rs202020241		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:119003411G>A	ENST00000350777.2	+	7	858	c.795G>A	c.(793-795)ccG>ccA	p.P265P	HINFP_ENST00000527410.1_Silent_p.P265P	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	265					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGACCTGCCCGCTGCCTTCCT	0.552																																						dbGAP											0													151.0	139.0	143.0					11																	119003411		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.795G>A	11.37:g.119003411G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P265	ENST00000350777.2	37	c.795	CCDS8414.1	11																																																																																			HINFP	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172273		0.552	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	HGNC	protein_coding	OTTHUMT00000388201.2	230	0.43	1	G	NM_015517		119003411	119003411	+1	no_errors	ENST00000350777	ensembl	human	known	69_37n	silent	208	17.90	46	SNP	0.309	A
HIPK2	28996	genome.wustl.edu	37	7	139416484	139416484	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:139416484C>T	ENST00000406875.3	-	2	444	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	HIPK2_ENST00000342645.6_Missense_Mutation_p.R117Q|HIPK2_ENST00000428878.2_Missense_Mutation_p.R117Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	117	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CACAGTGCTTCGACGCATTAG	0.552																																						dbGAP											0													102.0	85.0	91.0					7																	139416484		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.350G>A	7.37:g.139416484C>T	ENSP00000385571:p.Arg117Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R117Q	ENST00000406875.3	37	c.350		7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745135	0.89663	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51325	0.71;0.74;0.73	5.28	5.28	0.74379	.	.	.	.	.	T	0.68302	0.2986	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.978;0.986	T	0.65755	-0.6091	8	0.33141	T	0.24	.	18.9194	0.92519	0.0:1.0:0.0:0.0	.	117;117	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	Q	117	ENSP00000385571:R117Q;ENSP00000413724:R117Q;ENSP00000343108:R117Q	ENSP00000343108:R117Q	R	-	2	0	HIPK2	139062970	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.818000	0.86416	2.454000	0.82982	0.563000	0.77884	CGA	HIPK2	-	NULL	ENSG00000064393		0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	543	0.00	0	C	NM_022740		139416484	139416484	-1	no_errors	ENST00000406875	ensembl	human	known	69_37n	missense	429	11.68	57	SNP	1.000	T
HIRA	7290	genome.wustl.edu	37	22	19338952	19338952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:19338952G>A	ENST00000263208.5	-	24	3122	c.2866C>T	c.(2866-2868)Cga>Tga	p.R956*	HIRA_ENST00000541063.1_Nonsense_Mutation_p.R912*|HIRA_ENST00000546308.1_3'UTR|HIRA_ENST00000340170.4_Nonsense_Mutation_p.R749*	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	956	Interaction with histone H4.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CATATTTCTCGAAGTCGGTAT	0.383																																						dbGAP											0													77.0	76.0	76.0					22																	19338952		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2866C>T	22.37:g.19338952G>A	ENSP00000263208:p.Arg956*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BU9|Q8IXN2	Nonsense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R956*	ENST00000263208.5	37	c.2866	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	G	38	7.239849	0.98157	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5454	16.0028	0.80308	0.0:0.0:1.0:0.0	.	.	.	.	X	749;956;912	.	ENSP00000263208:R956X	R	-	1	2	HIRA	17718952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.884000	0.56175	2.436000	0.82500	0.585000	0.79938	CGA	HIRA	-	pfam_Hira	ENSG00000100084		0.383	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	85	0.00	0	G	NM_003325		19338952	19338952	-1	no_errors	ENST00000263208	ensembl	human	known	69_37n	nonsense	52	10.34	6	SNP	0.972	A
HIRA	7290	genome.wustl.edu	37	22	19396057	19396057	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:19396057C>T	ENST00000263208.5	-	3	416	c.160G>A	c.(160-162)Gag>Aag	p.E54K	HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Missense_Mutation_p.E10K|HIRA_ENST00000546308.1_Missense_Mutation_p.E10K|HIRA_ENST00000340170.4_Missense_Mutation_p.E54K	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	54					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCATCCTTCTCGTCATCCTCC	0.488																																						dbGAP											0													150.0	129.0	136.0					22																	19396057		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.160G>A	22.37:g.19396057C>T	ENSP00000263208:p.Glu54Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BU9|Q8IXN2	Missense_Mutation	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E54K	ENST00000263208.5	37	c.160	CCDS13759.1	22	.	.	.	.	.	.	.	.	.	.	C	34	5.306281	0.95629	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.73681	-0.51;-0.77;-0.68;-0.67	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047923	0.85682	D	0.000000	D	0.82820	0.5120	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.973	T	0.79799	-0.1651	10	0.35671	T	0.21	-33.6893	19.5916	0.95514	0.0:1.0:0.0:0.0	.	54;54	P54198-2;P54198	.;HIRA_HUMAN	K	54;54;10;10	ENSP00000345350:E54K;ENSP00000263208:E54K;ENSP00000446073:E10K;ENSP00000441870:E10K	ENSP00000263208:E54K	E	-	1	0	HIRA	17776057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.150000	0.77403	2.861000	0.98227	0.655000	0.94253	GAG	HIRA	-	superfamily_WD40_repeat_dom	ENSG00000100084		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	207	0.00	0	C	NM_003325		19396057	19396057	-1	no_errors	ENST00000263208	ensembl	human	known	69_37n	missense	164	12.30	23	SNP	1.000	T
HIST1H2BG	8339	genome.wustl.edu	37	6	26216658	26216658	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:26216658C>T	ENST00000244601.3	-	1	214	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	72					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GCGATGCGTTCGAAGATGTCG	0.562																																						dbGAP											0													173.0	159.0	164.0					6																	26216658		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.214G>A	6.37:g.26216658C>T	ENSP00000244601:p.Glu72Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E72K	ENST00000244601.3	37	c.214	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	15.76	2.927285	0.52759	.	.	ENSG00000187990	ENST00000244601	T	0.27402	1.67	3.99	3.99	0.46301	.	.	.	.	.	T	0.40839	0.1133	.	.	.	0.40849	D	0.983734	.	.	.	.	.	.	T	0.41395	-0.9511	6	0.62326	D	0.03	.	15.5859	0.76482	0.0:1.0:0.0:0.0	.	.	.	.	K	72	ENSP00000244601:E72K	ENSP00000244601:E72K	E	-	1	0	HIST1H2BG	26324637	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	7.499000	0.81566	2.220000	0.72140	0.561000	0.74099	GAA	HIST1H2BG	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000187990		0.562	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	299	0.33	1	C	NM_003518		26216658	26216658	-1	no_errors	ENST00000244601	ensembl	human	known	69_37n	missense	205	15.57	38	SNP	1.000	T
HIST2H3D	653604	genome.wustl.edu	37	1	149784849	149784849	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:149784849G>A	ENST00000331491.1	-	1	387	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	130					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CCGCGGATGCGGCGGGCCAAC	0.582																																						dbGAP											0													58.0	61.0	60.0					1																	149784849		1566	3581	5147	-	-	-	SO:0001583	missense	0			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.388C>T	1.37:g.149784849G>A	ENSP00000333277:p.Arg130Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R130C	ENST00000331491.1	37	c.388	CCDS41388.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280436	0.59758	.	.	ENSG00000183598	ENST00000331491	T	0.74842	-0.88	4.04	4.04	0.47022	.	0.000000	0.51477	U	0.000097	T	0.72471	0.3464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74839	-0.3528	7	0.51188	T	0.08	.	10.6715	0.45762	0.0:0.0:0.8084:0.1916	.	.	.	.	C	130	ENSP00000333277:R130C	ENSP00000333277:R130C	R	-	1	0	HIST2H3D	148051473	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.699000	0.61796	2.262000	0.75019	0.436000	0.28706	CGC	HIST2H3D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000183598		0.582	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H3D	HGNC	protein_coding	OTTHUMT00000033452.1	119	0.00	0	G	NM_001123375		149784849	149784849	-1	no_errors	ENST00000331491	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	1.000	A
HIVEP1	3096	genome.wustl.edu	37	6	12120153	12120153	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:12120153C>T	ENST00000379388.2	+	4	457	c.125C>T	c.(124-126)tCg>tTg	p.S42L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	42					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAAGGAACTTCGGAATCCCTT	0.353																																						dbGAP											0													152.0	139.0	143.0					6																	12120153		1854	4082	5936	-	-	-	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.125C>T	6.37:g.12120153C>T	ENSP00000368698:p.Ser42Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S42L	ENST00000379388.2	37	c.125	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673989	0.47781	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000442081;ENST00000478545	T	0.09350	2.99	5.79	5.79	0.91817	.	0.000000	0.31760	N	0.007106	T	0.04182	0.0116	L	0.42245	1.32	0.80722	D	1	B	0.25312	0.123	B	0.10450	0.005	T	0.24048	-1.0171	10	0.37606	T	0.19	-10.6081	8.9447	0.35751	0.1491:0.7761:0.0:0.0749	.	42	P15822	ZEP1_HUMAN	L	42;42;42;51;42	ENSP00000368698:S42L	ENSP00000368698:S42L	S	+	2	0	HIVEP1	12228139	0.173000	0.23056	0.999000	0.59377	0.995000	0.86356	1.798000	0.38814	2.733000	0.93635	0.655000	0.94253	TCG	HIVEP1	-	NULL	ENSG00000095951		0.353	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	132	0.00	0	C	NM_002114		12120153	12120153	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	missense	166	12.11	23	SNP	0.894	T
HIVEP1	3096	genome.wustl.edu	37	6	12121176	12121176	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:12121176T>C	ENST00000379388.2	+	4	1480	c.1148T>C	c.(1147-1149)gTt>gCt	p.V383A		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	383					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCCTCTGTTGTTAATCAAAGC	0.393																																						dbGAP											0													128.0	121.0	123.0					6																	12121176		1990	4200	6190	-	-	-	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1148T>C	6.37:g.12121176T>C	ENSP00000368698:p.Val383Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V383A	ENST00000379388.2	37	c.1148	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205908	0.79127	.	.	ENSG00000095951	ENST00000379388	T	0.10099	2.91	5.2	5.2	0.72013	.	0.000000	0.31347	N	0.007813	T	0.19167	0.0460	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.60541	0.876	T	0.00923	-1.1513	9	.	.	.	-19.798	15.0755	0.72074	0.0:0.0:0.0:1.0	.	383	P15822	ZEP1_HUMAN	A	383	ENSP00000368698:V383A	.	V	+	2	0	HIVEP1	12229162	1.000000	0.71417	0.258000	0.24420	0.951000	0.60555	7.603000	0.82811	1.953000	0.56701	0.528000	0.53228	GTT	HIVEP1	-	NULL	ENSG00000095951		0.393	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	104	0.00	0	T	NM_002114		12121176	12121176	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	missense	124	13.29	19	SNP	0.944	C
HIVEP3	59269	genome.wustl.edu	37	1	41976668	41976668	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:41976668G>T	ENST00000372583.1	-	9	7560	c.6675C>A	c.(6673-6675)ttC>ttA	p.F2225L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372584.1_Missense_Mutation_p.F2224L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.F2224L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.F2225L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2225					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACCCCCGGAGAAGCCACTGA	0.706																																						dbGAP											0													31.0	38.0	36.0					1																	41976668		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6675C>A	1.37:g.41976668G>T	ENSP00000361664:p.Phe2225Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F2225L	ENST00000372583.1	37	c.6675	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827548	0.71143	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07567	3.19;3.18;3.18;3.19	5.16	5.16	0.70880	.	0.000000	0.52532	D	0.000079	T	0.06508	0.0167	L	0.27053	0.805	0.31623	N	0.650068	B;B	0.33637	0.42;0.296	B;B	0.30782	0.12;0.056	T	0.07693	-1.0759	10	0.40728	T	0.16	-16.1338	11.3325	0.49484	0.0854:0.0:0.9146:0.0	.	2224;2225	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	2224;2225;2225;2224	ENSP00000361665:F2224L;ENSP00000361664:F2225L;ENSP00000247584:F2225L;ENSP00000410828:F2224L	ENSP00000247584:F2225L	F	-	3	2	HIVEP3	41749255	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.336000	0.43938	2.688000	0.91661	0.561000	0.74099	TTC	HIVEP3	-	NULL	ENSG00000127124		0.706	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	31	0.00	0	G	NM_024503		41976668	41976668	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.919	T
HIVEP3	59269	genome.wustl.edu	37	1	42049026	42049026	+	Silent	SNP	G	G	A	rs546215210		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:42049026G>A	ENST00000372583.1	-	4	2328	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	HIVEP3_ENST00000372584.1_Silent_p.I481I|HIVEP3_ENST00000429157.2_Silent_p.I481I|HIVEP3_ENST00000247584.5_Silent_p.I481I	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	481	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCACGCTGTCGATCTCGCTGG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15748	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													83.0	78.0	80.0					1																	42049026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1443C>T	1.37:g.42049026G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I481	ENST00000372583.1	37	c.1443	CCDS463.1	1																																																																																			HIVEP3	-	NULL	ENSG00000127124		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	107	0.00	0	G	NM_024503		42049026	42049026	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	silent	45	25.00	15	SNP	0.020	A
HIVEP3	59269	genome.wustl.edu	37	1	42049505	42049505	+	Missense_Mutation	SNP	C	C	T	rs560610413		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:42049505C>T	ENST00000372583.1	-	4	1849	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	HIVEP3_ENST00000372584.1_Missense_Mutation_p.E322K|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E322K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E322K	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	322	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAACAGCGTTCGTGGCTGGAA	0.602																																						dbGAP											0													80.0	88.0	85.0					1																	42049505		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.964G>A	1.37:g.42049505C>T	ENSP00000361664:p.Glu322Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E322K	ENST00000372583.1	37	c.964	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424555	0.25639	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.15	5.15	0.70609	.	0.245199	0.29021	N	0.013391	T	0.07188	0.0182	N	0.19112	0.55	0.35057	D	0.761195	P;P	0.45078	0.846;0.85	B;B	0.37144	0.242;0.122	T	0.22034	-1.0228	10	0.62326	D	0.03	-0.5217	18.4234	0.90600	0.0:1.0:0.0:0.0	.	322;322	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	K	322	ENSP00000361665:E322K;ENSP00000361664:E322K;ENSP00000247584:E322K;ENSP00000410828:E322K	ENSP00000247584:E322K	E	-	1	0	HIVEP3	41822092	0.999000	0.42202	0.984000	0.44739	0.049000	0.14656	5.571000	0.67404	2.689000	0.91719	0.655000	0.94253	GAA	HIVEP3	-	NULL	ENSG00000127124		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	254	0.00	0	C	NM_024503		42049505	42049505	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	151	16.11	29	SNP	0.965	T
HK2	3099	genome.wustl.edu	37	2	75107615	75107615	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:75107615C>A	ENST00000290573.2	+	10	2089	c.1489C>A	c.(1489-1491)Cga>Aga	p.R497R	HK2_ENST00000409174.1_Silent_p.R469R	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	497	Catalytic.|Hexokinase type-1 2.		R -> Q (in dbSNP:rs2229625). {ECO:0000269|PubMed:7883123}.		apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGAAATGGAGCGAGGTCTGAG	0.597																																						dbGAP											0													84.0	82.0	83.0					2																	75107615		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1489C>A	2.37:g.75107615C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5J2|Q8WU87|Q9UN82	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R497	ENST00000290573.2	37	c.1489	CCDS1956.1	2																																																																																			HK2	-	pfam_Hexokinase_N	ENSG00000159399		0.597	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	163	0.00	0	C	NM_000189		75107615	75107615	+1	no_errors	ENST00000290573	ensembl	human	known	69_37n	silent	89	29.37	37	SNP	1.000	A
HKDC1	80201	genome.wustl.edu	37	10	71002966	71002966	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:71002966G>T	ENST00000354624.5	+	7	853	c.720G>T	c.(718-720)gaG>gaT	p.E240D	HKDC1_ENST00000395086.2_Missense_Mutation_p.E240D	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	240	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTTACATGGAGGACATGAGCA	0.577																																						dbGAP											0													132.0	119.0	123.0					10																	71002966		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.720G>T	10.37:g.71002966G>T	ENSP00000346643:p.Glu240Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.E240D	ENST00000354624.5	37	c.720	CCDS7288.1	10	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410578	0.83340	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.97328	-4.34;-4.34	5.44	4.54	0.55810	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97895	0.9308	M	0.82056	2.57	0.58432	D	0.999994	D	0.89917	1.0	D	0.71870	0.975	D	0.97927	1.0318	10	0.62326	D	0.03	-37.532	8.6988	0.34312	0.2256:0.0:0.7744:0.0	.	240	Q2TB90	HKDC1_HUMAN	D	240	ENSP00000346643:E240D;ENSP00000378521:E240D	ENSP00000346643:E240D	E	+	3	2	HKDC1	70672972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.523000	0.45580	1.520000	0.48965	0.655000	0.94253	GAG	HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.577	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	191	0.00	0	G	NM_025130		71002966	71002966	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	missense	124	26.63	45	SNP	1.000	T
HKR1	284459	genome.wustl.edu	37	19	37838097	37838097	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37838097C>T	ENST00000324411.4	+	4	365	c.96C>T	c.(94-96)ttC>ttT	p.F32F	HKR1_ENST00000392153.3_Silent_p.F13F|HKR1_ENST00000589392.1_Silent_p.F13F|HKR1_ENST00000592168.1_5'UTR|HKR1_ENST00000591134.1_5'UTR|HKR1_ENST00000586897.1_5'UTR|HKR1_ENST00000544914.1_Intron|HKR1_ENST00000591259.1_Silent_p.F13F|HKR1_ENST00000591417.1_5'UTR|HKR1_ENST00000541583.2_5'UTR|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	32					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F32F(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAGGCGTTCGTGGCATTCA	0.562																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											261.0	226.0	238.0					19																	37838097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.96C>T	19.37:g.37838097C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F32	ENST00000324411.4	37	c.96	CCDS12502.1	19																																																																																			HKR1	-	superfamily_Krueppel-associated_box	ENSG00000181666		0.562	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1	831	0.12	1	C	NM_181786		37838097	37838097	+1	no_errors	ENST00000324411	ensembl	human	known	69_37n	silent	500	12.98	75	SNP	0.000	T
HKR1	284459	genome.wustl.edu	37	19	37838748	37838748	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37838748G>T	ENST00000324411.4	+	5	556	c.287G>T	c.(286-288)aGa>aTa	p.R96I	HKR1_ENST00000392153.3_Missense_Mutation_p.R77I|HKR1_ENST00000589392.1_Missense_Mutation_p.R77I|HKR1_ENST00000592168.1_Missense_Mutation_p.R35I|HKR1_ENST00000591134.1_Missense_Mutation_p.R35I|HKR1_ENST00000586897.1_Missense_Mutation_p.R35I|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591259.1_Missense_Mutation_p.R77I|HKR1_ENST00000591417.1_Missense_Mutation_p.R35I|HKR1_ENST00000541583.2_Missense_Mutation_p.R35I|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	96	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAGGAGAGAAAATGTCCA	0.493																																						dbGAP											0													100.0	78.0	85.0					19																	37838748		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.287G>T	19.37:g.37838748G>T	ENSP00000315505:p.Arg96Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Nonsense_Mutation	SNP	NULL	p.E98*	ENST00000324411.4	37	c.292	CCDS12502.1	19	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951396	0.18431	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.07688	3.31;3.27;3.17	2.69	1.64	0.23874	Krueppel-associated box (1);	.	.	.	.	T	0.13927	0.0337	L	0.48877	1.53	0.19575	N	0.999963	P;D;P;P;B	0.56035	0.61;0.974;0.736;0.61;0.107	B;P;B;B;B	0.56916	0.146;0.809;0.146;0.146;0.003	T	0.14062	-1.0486	9	0.42905	T	0.14	.	5.6912	0.17831	0.1542:0.0:0.8458:0.0	.	35;77;96;77;131	Q7Z6E1;P10072-2;P10072;B4DSY3;Q53EM3	.;.;HKR1_HUMAN;.;.	I	35;77;131;96;35	ENSP00000375994:R77I;ENSP00000315505:R96I;ENSP00000438261:R35I	ENSP00000315505:R96I	R	+	2	0	HKR1	42530588	0.524000	0.26282	0.406000	0.26421	0.298000	0.27526	0.386000	0.20702	0.681000	0.31386	0.650000	0.86243	AGA	HKR1	-	NULL	ENSG00000181666		0.493	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1	324	0.00	0	G	NM_181786		37838748	37838748	+1	no_stop_codon	ENST00000590582	ensembl	human	putative	69_37n	nonsense	233	13.70	37	SNP	0.322	T
HKR1	284459	genome.wustl.edu	37	19	37853229	37853229	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37853229G>A	ENST00000324411.4	+	6	801	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	HKR1_ENST00000392153.3_Missense_Mutation_p.E159K|HKR1_ENST00000589392.1_Missense_Mutation_p.E160K|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.E117K|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	178					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAGAGGGAGAAGACTCCAG	0.473																																						dbGAP											0													52.0	54.0	53.0					19																	37853229		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.532G>A	19.37:g.37853229G>A	ENSP00000315505:p.Glu178Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E178K	ENST00000324411.4	37	c.532	CCDS12502.1	19	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508470	0.44660	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.09255	3.18;3.14;3.0	2.71	0.461	0.16689	.	.	.	.	.	T	0.03477	0.0100	N	0.12746	0.255	0.80722	D	1	B;B;P;B	0.39181	0.408;0.27;0.663;0.408	B;B;B;B	0.30572	0.058;0.117;0.058;0.058	T	0.48043	-0.9069	9	0.07644	T	0.81	-2.2865	5.7144	0.17952	0.1236:0.2012:0.6752:0.0	.	117;159;178;160	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	K	117;159;214;178;117	ENSP00000375994:E159K;ENSP00000315505:E178K;ENSP00000438261:E117K	ENSP00000315505:E178K	E	+	1	0	HKR1	42545069	0.017000	0.18338	0.344000	0.25628	0.159000	0.22180	1.381000	0.34362	0.197000	0.20387	0.650000	0.86243	GAA	HKR1	-	NULL	ENSG00000181666		0.473	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1	92	0.00	0	G	NM_181786		37853229	37853229	+1	no_errors	ENST00000324411	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	0.920	A
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29976019	29976019	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:29976019G>A	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GAGGCATAACGAGGTCCTGGG	0.592																																						dbGAP											0																																										-	-	-			0			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976019G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-	ENSG00000204622		0.592	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	21	0.00	0	G	NR_026751		29976019	29976019	+1	no_errors	ENST00000462773	ensembl	human	known	69_37n	rna	13	31.58	6	SNP	0.790	A
HMCN1	83872	genome.wustl.edu	37	1	186056360	186056360	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186056360C>A	ENST00000271588.4	+	59	9287	c.9058C>A	c.(9058-9060)Cta>Ata	p.L3020I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3020I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3020	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGTCGAACTCTACAGATTAT	0.373																																						dbGAP											0													130.0	124.0	126.0					1																	186056360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9058C>A	1.37:g.186056360C>A	ENSP00000271588:p.Leu3020Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L3020I	ENST00000271588.4	37	c.9058	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197633	0.58126	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.63	3.68	0.42216	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064000	0.64402	D	0.000006	D	0.83013	0.5162	M	0.90369	3.11	0.43522	D	0.995791	D	0.69078	0.997	D	0.80764	0.994	D	0.84202	0.0451	10	0.62326	D	0.03	.	11.2414	0.48972	0.0:0.8441:0.0:0.1559	.	3020	Q96RW7	HMCN1_HUMAN	I	3020	ENSP00000271588:L3020I;ENSP00000356462:L3020I	ENSP00000271588:L3020I	L	+	1	2	HMCN1	184322983	0.164000	0.22935	0.929000	0.37066	0.949000	0.60115	0.504000	0.22626	0.657000	0.30906	-0.136000	0.14681	CTA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	346	0.00	0	C	NM_031935		186056360	186056360	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	165	32.93	81	SNP	0.701	A
HMCN1	83872	genome.wustl.edu	37	1	186057392	186057392	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186057392G>T	ENST00000271588.4	+	62	9790	c.9561G>T	c.(9559-9561)aaG>aaT	p.K3187N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3187N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3187	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATGGTTAAAGAACCACAAGC	0.418																																						dbGAP											0													95.0	82.0	87.0					1																	186057392		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9561G>T	1.37:g.186057392G>T	ENSP00000271588:p.Lys3187Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K3187N	ENST00000271588.4	37	c.9561	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846491	0.51164	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.76316	-1.01;-1.01	5.63	3.68	0.42216	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88340	0.6410	M	0.88450	2.955	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	D	0.89165	0.3533	10	0.62326	D	0.03	.	10.8544	0.46789	0.1595:0.0:0.8405:0.0	.	3187	Q96RW7	HMCN1_HUMAN	N	3187	ENSP00000271588:K3187N;ENSP00000356462:K3187N	ENSP00000271588:K3187N	K	+	3	2	HMCN1	184324015	1.000000	0.71417	0.996000	0.52242	0.166000	0.22503	3.282000	0.51693	1.285000	0.44548	0.563000	0.77884	AAG	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	140	0.00	0	G	NM_031935		186057392	186057392	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	111	12.60	16	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186057875	186057875	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186057875C>A	ENST00000271588.4	+	63	9944	c.9715C>A	c.(9715-9717)Ctt>Att	p.L3239I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3239I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3239	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATTACTTTCTTTCAATTCA	0.333																																						dbGAP											0													53.0	56.0	55.0					1																	186057875		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9715C>A	1.37:g.186057875C>A	ENSP00000271588:p.Leu3239Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L3239I	ENST00000271588.4	37	c.9715	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327127	0.60743	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.83075	-1.68;-1.68	5.37	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.66560	2.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	D	0.89533	0.3787	10	0.51188	T	0.08	.	15.4744	0.75465	0.1389:0.8611:0.0:0.0	.	3239	Q96RW7	HMCN1_HUMAN	I	3239	ENSP00000271588:L3239I;ENSP00000356462:L3239I	ENSP00000271588:L3239I	L	+	1	0	HMCN1	184324498	0.998000	0.40836	0.830000	0.32933	0.522000	0.34438	3.759000	0.55227	2.505000	0.84491	0.650000	0.86243	CTT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000143341		0.333	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	296	0.00	0	C	NM_031935		186057875	186057875	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	191	13.96	31	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	186059896	186059896	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186059896C>T	ENST00000271588.4	+	64	9963	c.9734C>T	c.(9733-9735)cCa>cTa	p.P3245L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3245L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3245	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGTTCCTCCAAGTGTTGCT	0.358																																						dbGAP											0													116.0	113.0	114.0					1																	186059896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9734C>T	1.37:g.186059896C>T	ENSP00000271588:p.Pro3245Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P3245L	ENST00000271588.4	37	c.9734	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.200625	0.94997	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.92348	-3.02;-3.02	5.98	5.98	0.97165	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98156	1.0444	10	0.72032	D	0.01	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	3245	Q96RW7	HMCN1_HUMAN	L	3245	ENSP00000271588:P3245L;ENSP00000356462:P3245L	ENSP00000271588:P3245L	P	+	2	0	HMCN1	184326519	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.924000	0.75823	2.838000	0.97847	0.591000	0.81541	CCA	HMCN1	-	pfscan_Ig-like	ENSG00000143341		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	263	0.00	0	C	NM_031935		186059896	186059896	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	164	18.72	38	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186072780	186072780	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186072780C>A	ENST00000271588.4	+	69	10979	c.10750C>A	c.(10750-10752)Ctt>Att	p.L3584I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3584I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3584	Ig-like C2-type 34.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGAGAGGTTCTTCGAATTTC	0.418																																						dbGAP											0													53.0	55.0	55.0					1																	186072780		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10750C>A	1.37:g.186072780C>A	ENSP00000271588:p.Leu3584Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L3584I	ENST00000271588.4	37	c.10750	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638607	0.87760	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.91792	-2.91;-2.91	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96917	0.8993	M	0.90483	3.12	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.97183	0.9852	10	0.62326	D	0.03	.	19.4004	0.94627	0.0:1.0:0.0:0.0	.	3584	Q96RW7	HMCN1_HUMAN	I	3584	ENSP00000271588:L3584I;ENSP00000356462:L3584I	ENSP00000271588:L3584I	L	+	1	0	HMCN1	184339403	1.000000	0.71417	0.867000	0.34043	0.667000	0.39255	4.467000	0.60155	2.577000	0.86979	0.655000	0.94253	CTT	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	148	0.00	0	C	NM_031935		186072780	186072780	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	128	15.23	23	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	186106711	186106711	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186106711T>G	ENST00000271588.4	+	88	13893	c.13664T>G	c.(13663-13665)cTg>cGg	p.L4555R	HMCN1_ENST00000367492.2_Missense_Mutation_p.L4555R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4555	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGAGTCGTCTGTGCAACCAG	0.493																																						dbGAP											0													69.0	70.0	70.0					1																	186106711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13664T>G	1.37:g.186106711T>G	ENSP00000271588:p.Leu4555Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L4555R	ENST00000271588.4	37	c.13664	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	1.417	-0.573937	0.03882	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.52754	0.65;0.65	5.78	4.62	0.57501	.	0.460850	0.24828	N	0.035271	T	0.33411	0.0862	L	0.35414	1.06	0.32554	N	0.531999	B	0.13145	0.007	B	0.18263	0.021	T	0.34750	-0.9816	10	0.23302	T	0.38	.	8.3151	0.32095	0.1813:0.0:0.103:0.7157	.	4555	Q96RW7	HMCN1_HUMAN	R	4555	ENSP00000271588:L4555R;ENSP00000356462:L4555R	ENSP00000271588:L4555R	L	+	2	0	HMCN1	184373334	0.358000	0.24947	0.989000	0.46669	0.608000	0.37181	0.986000	0.29590	2.204000	0.70986	0.528000	0.53228	CTG	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.493	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	272	0.37	1	T	NM_031935		186106711	186106711	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	212	11.67	28	SNP	0.948	G
HMCN1	83872	genome.wustl.edu	37	1	186113349	186113349	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186113349G>A	ENST00000271588.4	+	90	14198	c.13969G>A	c.(13969-13971)Gaa>Aaa	p.E4657K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E4657K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4657	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACATGCAGCGAAAGTTGTGG	0.488																																						dbGAP											0													136.0	138.0	137.0					1																	186113349		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13969G>A	1.37:g.186113349G>A	ENSP00000271588:p.Glu4657Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E4657K	ENST00000271588.4	37	c.13969	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892708	0.02491	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.48201	0.82;0.82	5.42	-10.8	0.00216	.	1.119980	0.06432	N	0.724241	T	0.15869	0.0382	N	0.03238	-0.38	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07673	-1.0760	10	0.10636	T	0.68	.	6.5807	0.22591	0.2795:0.0705:0.5101:0.1399	.	4657	Q96RW7	HMCN1_HUMAN	K	4657	ENSP00000271588:E4657K;ENSP00000356462:E4657K	ENSP00000271588:E4657K	E	+	1	0	HMCN1	184379972	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.233000	0.09041	-3.170000	0.00225	-0.142000	0.14014	GAA	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	241	0.00	0	G	NM_031935		186113349	186113349	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	107	42.47	79	SNP	0.000	A
HLX	3142	genome.wustl.edu	37	1	221053716	221053716	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:221053716G>T	ENST00000366903.6	+	1	2018	c.517G>T	c.(517-519)Gac>Tac	p.D173Y	HLX_ENST00000549319.1_5'Flank|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	173					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTCCAGCAAAGACCTCAAATT	0.627																																						dbGAP											0													31.0	39.0	36.0					1																	221053716		2151	4258	6409	-	-	-	SO:0001583	missense	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.517G>T	1.37:g.221053716G>T	ENSP00000355870:p.Asp173Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.D173Y	ENST00000366903.6	37	c.517	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.051007	0.93740	.	.	ENSG00000136630	ENST00000366903	T	0.33216	1.42	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000009	T	0.43411	0.1246	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.12116	-1.0560	10	0.13108	T	0.6	-39.067	18.3139	0.90210	0.0:0.0:1.0:0.0	.	173	Q14774	HLX_HUMAN	Y	173	ENSP00000355870:D173Y	ENSP00000355870:D173Y	D	+	1	0	HLX	219120339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.523000	0.98034	2.413000	0.81919	0.655000	0.94253	GAC	HLX	-	NULL	ENSG00000136630		0.627	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	52	0.00	0	G	NM_021958		221053716	221053716	+1	no_errors	ENST00000366903	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	1.000	T
HMGA1	3159	genome.wustl.edu	37	6	34208575	34208575	+	Silent	SNP	G	G	A	rs376817030		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:34208575G>A	ENST00000447654.1	+	2	507	c.18G>A	c.(16-18)tcG>tcA	p.S6S	HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000311487.5_Silent_p.S6S|HMGA1_ENST00000347617.6_Silent_p.S6S|HMGA1_ENST00000374116.3_Silent_p.S6S|HMGA1_ENST00000395004.3_Silent_p.S6S|HMGA1_ENST00000401473.3_Silent_p.S6S	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	6					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						AGTCGAGCTCGAAGTCCAGCC	0.597			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""																																	dbGAP		Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"""E, M"""	0													32.0	36.0	35.0					6																	34208575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"""High-mobility group / Canonical"""	5010	protein-coding gene	gene with protein product		600701	"""high-mobility group (nonhistone chromosomal) protein isoforms I and Y"""	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.18G>A	6.37:g.34208575G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P10910|Q5T6U9|Q9UKB0	Silent	SNP	prints_HMGI/HMGY,prints_AT_hook-like	p.S6	ENST00000447654.1	37	c.18	CCDS4789.1	6																																																																																			HMGA1	-	NULL	ENSG00000137309		0.597	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2	65	0.00	0	G	NM_145899		34208575	34208575	+1	no_errors	ENST00000395004	ensembl	human	known	69_37n	silent	31	35.42	17	SNP	0.797	A
HMGA2	8091	genome.wustl.edu	37	12	66357061	66357061	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:66357061G>A	ENST00000403681.2	+	5	1459	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	107					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGAGTCTGCCGAAGAGGACTA	0.507			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																	dbGAP		Dom	yes		12	12q15	8091	high mobility group AT-hook 2 (HMGIC)		M	0													84.0	89.0	87.0					12																	66357061		1946	4129	6075	-	-	-	SO:0001583	missense	0			U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.319G>A	12.37:g.66357061G>A	ENSP00000384026:p.Glu107Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Missense_Mutation	SNP	pfam_AT_hook_DNA-bd_motif,smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like	p.E107K	ENST00000403681.2	37	c.319	CCDS44936.1	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258845	0.80246	.	.	ENSG00000149948	ENST00000403681	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.67477	0.2897	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.64193	-0.6465	7	.	.	.	.	19.1873	0.93649	0.0:0.0:1.0:0.0	.	107	P52926	HMGA2_HUMAN	K	107	.	.	E	+	1	0	HMGA2	64643328	1.000000	0.71417	0.971000	0.41717	0.897000	0.52465	7.537000	0.82033	2.516000	0.84829	0.555000	0.69702	GAA	HMGA2	-	prints_HMGI/HMGY	ENSG00000149948		0.507	HMGA2-001	KNOWN	basic|CCDS	protein_coding	HMGA2	HGNC	protein_coding	OTTHUMT00000401654.1	215	0.00	0	G	NM_003483		66357061	66357061	+1	no_errors	ENST00000403681	ensembl	human	known	69_37n	missense	103	36.75	61	SNP	1.000	A
HMGB1P5	10354	genome.wustl.edu	37	3	22423756	22423756	+	RNA	SNP	G	G	A	rs543699474	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:22423756G>A	ENST00000451497.1	+	0	321									high mobility group box 1 pseudogene 5																		AGAAGGCTGCGAAGCTGAAGG	0.443													-|||	7	0.00139776	0.0	0.0	5008	,	,		21528	0.0		0.0	False		,,,				2504	0.0072					dbGAP											0																																										-	-	-			0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.443	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	97	0.00	0	G	NG_000897		22423756	22423756	+1	no_errors	ENST00000451497	ensembl	human	known	69_37n	rna	81	15.62	15	SNP	0.991	A
HMGB3	3149	genome.wustl.edu	37	X	150154162	150154162	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:150154162A>C	ENST00000325307.7	+	2	186	c.90A>C	c.(88-90)aaA>aaC	p.K30N	HMGB3_ENST00000448905.2_Missense_Mutation_p.K30N	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	30					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGAAGAAAAACCCAGAGG	0.448																																						dbGAP											0													118.0	123.0	121.0					X																	150154162		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.90A>C	X.37:g.150154162A>C	ENSP00000359393:p.Lys30Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95556|Q6NS40	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K30N	ENST00000325307.7	37	c.90	CCDS35428.1	X	.	.	.	.	.	.	.	.	.	.	a	19.11	3.763580	0.69878	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	5.61	0.605	0.17553	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.79258	2.445	0.46096	D	0.998867	D	0.69078	0.997	D	0.77004	0.989	T	0.06752	-1.0809	10	0.66056	D	0.02	.	8.5574	0.33489	0.4774:0.0:0.5226:0.0	.	30	O15347	HMGB3_HUMAN	N	30	ENSP00000410354:K30N;ENSP00000359393:K30N;ENSP00000405601:K30N;ENSP00000442758:K30N;ENSP00000417027:K30N	ENSP00000359393:K30N	K	+	3	2	HMGB3	149904820	0.997000	0.39634	0.997000	0.53966	0.976000	0.68499	0.503000	0.22610	0.001000	0.14605	0.486000	0.48141	AAA	HMGB3	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000029993		0.448	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	HGNC	protein_coding	OTTHUMT00000060867.1	222	0.00	0	A	NM_005342		150154162	150154162	+1	no_errors	ENST00000325307	ensembl	human	known	69_37n	missense	189	19.23	45	SNP	0.997	C
HMGCS1	3157	genome.wustl.edu	37	5	43298832	43298832	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:43298832C>A	ENST00000325110.6	-	3	442	c.236G>T	c.(235-237)aGa>aTa	p.R79I	HMGCS1_ENST00000433297.2_Missense_Mutation_p.R79I	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	79					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						AAGGTTATTTCTCTCCATAAG	0.423																																						dbGAP											0													127.0	124.0	125.0					5																	43298832		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.236G>T	5.37:g.43298832C>A	ENSP00000322706:p.Arg79Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL8	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.R79I	ENST00000325110.6	37	c.236	CCDS34154.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.422596	0.96111	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;D	0.89939	-2.59;-2.59;-2.59	6.02	6.02	0.97574	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.95968	0.8687	M	0.93016	3.37	0.80722	D	1	D	0.54047	0.964	D	0.64877	0.93	D	0.95985	0.8981	10	0.87932	D	0	-13.4184	20.5373	0.99239	0.0:1.0:0.0:0.0	.	79	Q01581	HMCS1_HUMAN	I	79	ENSP00000322706:R79I;ENSP00000399402:R79I;ENSP00000427339:R79I	ENSP00000322706:R79I	R	-	2	0	HMGCS1	43334589	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.668000	0.61568	2.857000	0.98124	0.650000	0.86243	AGA	HMGCS1	-	pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000112972		0.423	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	149	0.00	0	C			43298832	43298832	-1	no_errors	ENST00000325110	ensembl	human	known	69_37n	missense	109	17.42	23	SNP	1.000	A
HMGCS1	3157	genome.wustl.edu	37	5	43299051	43299051	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:43299051G>T	ENST00000325110.6	-	3	223	c.17C>A	c.(16-18)cCt>cAt	p.P6H	HMGCS1_ENST00000433297.2_Missense_Mutation_p.P6H	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	6					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGCATTCAAAGGAAGTGATCC	0.358																																						dbGAP											0													58.0	58.0	58.0					5																	43299051		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.17C>A	5.37:g.43299051G>T	ENSP00000322706:p.Pro6His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL8	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.P6H	ENST00000325110.6	37	c.17	CCDS34154.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380882	0.82792	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;T	0.90620	-2.7;-2.7;-1.08	6.02	6.02	0.97574	.	0.092996	0.85682	D	0.000000	D	0.92980	0.7766	L	0.41824	1.3	0.58432	D	0.999999	D	0.76494	0.999	P	0.61201	0.885	D	0.92969	0.6396	10	0.72032	D	0.01	-9.946	20.5373	0.99239	0.0:0.0:1.0:0.0	.	6	Q01581	HMCS1_HUMAN	H	6	ENSP00000322706:P6H;ENSP00000399402:P6H;ENSP00000427339:P6H	ENSP00000322706:P6H	P	-	2	0	HMGCS1	43334808	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.372000	0.79612	2.857000	0.98124	0.650000	0.86243	CCT	HMGCS1	-	NULL	ENSG00000112972		0.358	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS1	HGNC	protein_coding	OTTHUMT00000368022.1	57	0.00	0	G			43299051	43299051	-1	no_errors	ENST00000325110	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	1.000	T
HMGCS2	3158	genome.wustl.edu	37	1	120295237	120295237	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:120295237C>T	ENST00000369406.3	-	8	1404	c.1355G>A	c.(1354-1356)cGa>cAa	p.R452Q	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Missense_Mutation_p.R410Q	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	452					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CACACACTTTCGGGAGGCTAG	0.463																																						dbGAP											0													144.0	142.0	142.0					1																	120295237		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1355G>A	1.37:g.120295237C>T	ENSP00000358414:p.Arg452Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.R452Q	ENST00000369406.3	37	c.1355	CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196659	0.79015	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.86030	-2.06;-2.06	5.09	5.09	0.68999	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.000000	0.64402	D	0.000020	D	0.93989	0.8075	M	0.93420	3.415	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.94730	0.7909	10	0.72032	D	0.01	-1.6169	17.5785	0.87958	0.0:1.0:0.0:0.0	.	410;452	B7Z8R3;P54868	.;HMCS2_HUMAN	Q	452;410	ENSP00000358414:R452Q;ENSP00000439495:R410Q	ENSP00000358414:R452Q	R	-	2	0	HMGCS2	120096760	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	4.946000	0.63576	2.791000	0.96007	0.655000	0.94253	CGA	HMGCS2	-	pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	ENSG00000134240		0.463	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	HGNC	protein_coding	OTTHUMT00000033469.2	524	0.19	1	C	NM_005518		120295237	120295237	-1	no_errors	ENST00000369406	ensembl	human	known	69_37n	missense	357	26.49	129	SNP	1.000	T
HMGXB4	10042	genome.wustl.edu	37	22	35659155	35659156	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:35659155_35659156insT	ENST00000216106.5	+	3	244_245	c.116_117insT	c.(115-120)gattttfs	p.DF39fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	39					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTACAAAGATTTTTTAAGGG	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.122dupT	22.37:g.35659161_35659161dupT	ENSP00000216106:p.Asp39fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75672|O75673|Q9UMT5	Frame_Shift_Ins	INS	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L41fs	ENST00000216106.5	37	c.116_117	CCDS33641.1	22																																																																																			HMGXB4	-	NULL	ENSG00000100281		0.391	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	77	0.00	0	-	NM_005487		35659155	35659156	+1	no_errors	ENST00000216106	ensembl	human	known	69_37n	frame_shift_ins	41	24.07	13	INS	1.000:1.000	T
HMSD	284293	genome.wustl.edu	37	18	61621721	61621721	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:61621721G>T	ENST00000408945.3	+	3	354	c.152G>T	c.(151-153)aGa>aTa	p.R51I	HMSD_ENST00000526932.1_Nonsense_Mutation_p.E17*|HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	51						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						GCAATTAACAGAACTGACACT	0.338																																						dbGAP											0													147.0	138.0	141.0					18																	61621721		1568	3582	5150	-	-	-	SO:0001583	missense	0			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.152G>T	18.37:g.61621721G>T	ENSP00000386207:p.Arg51Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E17*	ENST00000408945.3	37	c.49	CCDS42441.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.38|13.38	2.221076|2.221076	0.39201|0.39201	.|.	.|.	ENSG00000221887|ENSG00000221887	ENST00000526932|ENST00000408945	.|D	.|0.84730	.|-1.89	3.19|3.19	-4.11|-4.11	0.03928|0.03928	.|Serpin domain (2);	.|.	.|.	.|.	.|.	.|D	.|0.88153	.|0.6360	M|M	0.69358|0.69358	2.11|2.11	0.52501|0.52501	A|A	0.999952|0.999952	.|D	.|0.58620	.|0.983	.|P	.|0.62885	.|0.908	.|D	.|0.86999	.|0.2115	.|8	0.87932|0.87932	D|D	0|0	.|.	10.2608|10.2608	0.43425|0.43425	0.8454:0.0:0.1546:0.0|0.8454:0.0:0.1546:0.0	.|.	.|51	.|A8MTL9	.|HMSD_HUMAN	X|I	17|51	.|ENSP00000386207:R51I	ENSP00000431632:E17X|ENSP00000386207:R51I	E|R	+|+	1|2	0|0	HMSD|HMSD	59772701|59772701	0.077000|0.077000	0.21312|0.21312	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.132000|0.132000	0.15891|0.15891	-0.925000|-0.925000	0.03775|0.03775	-0.373000|-0.373000	0.07131|0.07131	GAA|AGA	HMSD	-	NULL	ENSG00000221887		0.338	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMSD	HGNC	protein_coding	OTTHUMT00000134010.2	477	0.00	0	G	XM_209104		61621721	61621721	+1	no_errors	ENST00000526932	ensembl	human	known	69_37n	nonsense	234	11.36	30	SNP	0.135	T
HMSD	284293	genome.wustl.edu	37	18	61627536	61627536	+	Missense_Mutation	SNP	G	G	A	rs141010043	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:61627536G>A	ENST00000408945.3	+	4	569	c.367G>A	c.(367-369)Gat>Aat	p.D123N	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	123						extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATTCTATTTCGATAATATTTT	0.299													G|||	7	0.00139776	0.0045	0.0	5008	,	,		16529	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													42.0	39.0	40.0					18																	61627536		1567	3580	5147	-	-	-	SO:0001583	missense	0			AC009802	CCDS42441.1	18q21.33	2008-02-04			ENSG00000221887	ENSG00000221887			23037	protein-coding gene	gene with protein product		612086		C18orf53		17409267	Standard	NM_001123366		Approved	ACC-6	uc010dqj.3	A8MTL9	OTTHUMG00000060593	ENST00000408945.3:c.367G>A	18.37:g.61627536G>A	ENSP00000386207:p.Asp123Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom	p.D123N	ENST00000408945.3	37	c.367	CCDS42441.1	18	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	10.02	1.236215	0.22626	.	.	ENSG00000221887	ENST00000408945	D	0.82344	-1.6	1.9	-0.947	0.10382	.	.	.	.	.	T	0.68513	0.3009	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.64506	0.926	T	0.62501	-0.6841	9	0.29301	T	0.29	.	4.5264	0.11983	0.5841:0.0:0.4159:0.0	.	123	A8MTL9	HMSD_HUMAN	N	123	ENSP00000386207:D123N	ENSP00000386207:D123N	D	+	1	0	HMSD	59778516	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.364000	0.07583	-0.073000	0.12842	-0.752000	0.03492	GAT	HMSD	-	NULL	ENSG00000221887		0.299	HMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMSD	HGNC	protein_coding	OTTHUMT00000134010.2	312	0.00	0	G	XM_209104		61627536	61627536	+1	no_errors	ENST00000408945	ensembl	human	known	69_37n	missense	213	10.88	26	SNP	0.000	A
HNRNPH3	3189	genome.wustl.edu	37	10	70097039	70097039	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70097039C>T	ENST00000265866.7	+	2	226	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.R21C|HNRNPH3_ENST00000441000.2_Missense_Mutation_p.R21C	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AGTACGACTTCGTGGACTACC	0.338																																						dbGAP											0													199.0	182.0	188.0					10																	70097039		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.61C>T	10.37:g.70097039C>T	ENSP00000265866:p.Arg21Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R21C	ENST00000265866.7	37	c.61	CCDS7278.1	10	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944364	0.34283	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.34472	2.91;1.36;2.91	5.88	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48909	0.1526	M	0.89968	3.075	0.47659	D	0.999481	B;B;B	0.18013	0.003;0.025;0.018	B;B;B	0.15052	0.002;0.007;0.012	T	0.54873	-0.8228	10	0.87932	D	0	.	14.8684	0.70434	0.0:0.9312:0.0:0.0688	.	21;21;21	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	C	21	ENSP00000265866:R21C;ENSP00000409869:R21C;ENSP00000346726:R21C	ENSP00000265866:R21C	R	+	1	0	HNRNPH3	69767045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.267000	0.51577	1.494000	0.48533	0.585000	0.79938	CGT	HNRNPH3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000096746		0.338	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	226	0.44	1	C			70097039	70097039	+1	no_errors	ENST00000265866	ensembl	human	known	69_37n	missense	198	12.39	28	SNP	1.000	T
HNRNPM	4670	genome.wustl.edu	37	19	8531218	8531218	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:8531218C>T	ENST00000325495.4	+	7	771	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R205C	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	244	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGAAAAAGTCGTGGAATAGG	0.398																																						dbGAP											0													164.0	154.0	157.0					19																	8531218		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.730C>T	19.37:g.8531218C>T	ENSP00000325376:p.Arg244Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.R244C	ENST00000325495.4	37	c.730	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158660	0.78226	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.41758	0.99;2.12	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.76575	0.973;0.947;0.969;0.988;0.971	T	0.71768	-0.4493	10	0.87932	D	0	.	18.2445	0.89981	0.0:1.0:0.0:0.0	.	84;244;205;205;144	Q7KYM9;P52272;P52272-2;B4DEG4;Q59ES8	.;HNRPM_HUMAN;.;.;.	C	244;205;144	ENSP00000325376:R244C;ENSP00000325732:R205C	ENSP00000325376:R244C	R	+	1	0	HNRNPM	8437218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.024000	0.57218	2.653000	0.90120	0.650000	0.86243	CGT	HNRNPM	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000099783		0.398	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	246	0.00	0	C			8531218	8531218	+1	no_errors	ENST00000325495	ensembl	human	known	69_37n	missense	254	13.31	39	SNP	1.000	T
HNRNPR	10236	genome.wustl.edu	37	1	23650159	23650159	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:23650159C>T	ENST00000374612.1	-	6	688	c.565G>A	c.(565-567)Gga>Aga	p.G189R	HNRNPR_ENST00000478691.1_Missense_Mutation_p.G88R|HNRNPR_ENST00000374616.3_Missense_Mutation_p.G189R|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000427764.2_Missense_Mutation_p.G151R|HNRNPR_ENST00000302271.6_Missense_Mutation_p.G189R|HNRNPR_ENST00000606561.1_Missense_Mutation_p.G50R	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	189	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAAATGGGTCCGGCCTTCTCA	0.438																																						dbGAP											0													95.0	98.0	97.0					1																	23650159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.565G>A	1.37:g.23650159C>T	ENSP00000363741:p.Gly189Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.G189R	ENST00000374612.1	37	c.565	CCDS232.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687658	0.88639	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.14	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044386	0.85682	D	0.000000	D	0.83468	0.5261	H	0.99705	4.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91178	0.4974	10	0.87932	D	0	-3.3526	17.5397	0.87843	0.0:1.0:0.0:0.0	.	151;50;166;189;189	Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;HNRPR_HUMAN;.	R	189;189;189;151	ENSP00000363745:G189R;ENSP00000363741:G189R;ENSP00000304405:G189R;ENSP00000392799:G151R	ENSP00000304405:G189R	G	-	1	0	HNRNPR	23522746	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.684000	0.84104	2.567000	0.86603	0.561000	0.74099	GGA	HNRNPR	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000125944		0.438	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	295	0.00	0	C	NM_005826		23650159	23650159	-1	no_errors	ENST00000374616	ensembl	human	known	69_37n	missense	229	15.50	42	SNP	1.000	T
HOOK1	51361	genome.wustl.edu	37	1	60336666	60336666	+	Intron	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:60336666T>C	ENST00000371208.3	+	21	2204				HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Intron	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TCTTTAGTAATTTGGGGTAAT	0.308																																						dbGAP											0													42.0	44.0	43.0					1																	60336666		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1948-48T>C	1.37:g.60336666T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	RNA	SNP	-	NULL	ENST00000371208.3	37	NULL	CCDS612.1	1																																																																																			HOOK1	-	-	ENSG00000134709		0.308	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	127	0.78	1	T	NM_015888		60336666	60336666	+1	no_errors	ENST00000491135	ensembl	human	known	69_37n	rna	62	18.42	14	SNP	0.000	C
HORMAD1	84072	genome.wustl.edu	37	1	150672639	150672639	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150672639T>A	ENST00000361824.2	-	14	1158	c.1053A>T	c.(1051-1053)gtA>gtT	p.V351V	HORMAD1_ENST00000368995.4_Silent_p.V271V|HORMAD1_ENST00000368993.2_Silent_p.V351V|RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000322343.7_Silent_p.V344V	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	351					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAAGATTTTACTGGTTGAT	0.328																																						dbGAP											0													140.0	128.0	132.0					1																	150672639		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1053A>T	1.37:g.150672639T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.V351	ENST00000361824.2	37	c.1053	CCDS967.1	1																																																																																			HORMAD1	-	NULL	ENSG00000143452		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	519	0.00	0	T	NM_032132		150672639	150672639	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	silent	393	12.39	56	SNP	0.980	A
HORMAD1	84072	genome.wustl.edu	37	1	150676671	150676671	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150676671C>A	ENST00000361824.2	-	12	977		c.e12-1		HORMAD1_ENST00000368995.4_Splice_Site|HORMAD1_ENST00000368993.2_Splice_Site|RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000322343.7_Splice_Site	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAACTTGGTTCTGTAAAAAAA	0.308																																						dbGAP											0													20.0	21.0	21.0					1																	150676671		2189	4291	6480	-	-	-	SO:0001630	splice_region_variant	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.872-1G>T	1.37:g.150676671C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Splice_Site	SNP	-	e11-1	ENST00000361824.2	37	c.872-1	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444105	0.63067	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6592	0.85237	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HORMAD1	148943295	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	4.532000	0.60608	2.723000	0.93209	0.650000	0.86243	.	HORMAD1	-	-	ENSG00000143452		0.308	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	61	0.00	0	C	NM_032132	Intron	150676671	150676671	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	splice_site	30	15.38	6	SNP	0.996	A
HORMAD1	84072	genome.wustl.edu	37	1	150680816	150680816	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150680816G>A	ENST00000361824.2	-	9	568	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	HORMAD1_ENST00000368995.4_Missense_Mutation_p.R75C|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R155C|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R148C	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	155	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TAAATCTTGCGAATGAGGAGA	0.328																																						dbGAP											0													123.0	118.0	119.0					1																	150680816		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.463C>T	1.37:g.150680816G>A	ENSP00000355167:p.Arg155Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.R155C	ENST00000361824.2	37	c.463	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432623	0.83776	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.68181	-0.31;0.54;0.34;0.45	5.75	5.75	0.90469	DNA-binding HORMA (4);	0.047283	0.85682	D	0.000000	D	0.85483	0.5707	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.996;1.0	D	0.88507	0.3086	10	0.87932	D	0	-5.5238	18.5163	0.90936	0.0:0.0:1.0:0.0	.	75;148;155	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	C	75;155;84;75;148;155;84;77	ENSP00000357991:R75C;ENSP00000357989:R155C;ENSP00000326489:R148C;ENSP00000355167:R155C	ENSP00000326489:R148C	R	-	1	0	HORMAD1	148947440	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.776000	0.62354	2.719000	0.93026	0.655000	0.94253	CGC	HORMAD1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000143452		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	228	0.00	0	G	NM_032132		150680816	150680816	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	missense	197	16.46	39	SNP	1.000	A
HORMAD1	84072	genome.wustl.edu	37	1	150680867	150680867	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150680867C>T	ENST00000361824.2	-	9	517	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	HORMAD1_ENST00000368995.4_Missense_Mutation_p.E58K|HORMAD1_ENST00000368993.2_Missense_Mutation_p.E138K|HORMAD1_ENST00000322343.7_Missense_Mutation_p.E131K	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	138	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATGCTAGATTCGTTGCTTTGG	0.323																																						dbGAP											0													103.0	96.0	98.0					1																	150680867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.412G>A	1.37:g.150680867C>T	ENSP00000355167:p.Glu138Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.E138K	ENST00000361824.2	37	c.412	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	2.285	-0.363726	0.05103	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824;ENST00000368987;ENST00000442853	T;T;T;T	0.47528	0.84;1.4;1.4;1.39	5.51	-1.49	0.08718	DNA-binding HORMA (4);	0.759949	0.13632	N	0.373649	T	0.10252	0.0251	N	0.21508	0.67	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.09377	0.002;0.001;0.004	T	0.41645	-0.9497	10	0.09590	T	0.72	-5.6879	10.554	0.45105	0.0:0.4938:0.0:0.5062	.	58;131;138	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	K	58;138;67;58;131;138;67;60	ENSP00000357991:E58K;ENSP00000357989:E138K;ENSP00000326489:E131K;ENSP00000355167:E138K	ENSP00000326489:E131K	E	-	1	0	HORMAD1	148947491	0.000000	0.05858	0.014000	0.15608	0.323000	0.28346	-0.359000	0.07632	-0.161000	0.10983	-0.137000	0.14449	GAA	HORMAD1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000143452		0.323	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	209	0.00	0	C	NM_032132		150680867	150680867	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	missense	145	23.28	44	SNP	0.000	T
HNRNPU	3192	genome.wustl.edu	37	1	245027306	245027306	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:245027306C>T	ENST00000283179.9	-	1	467	c.304G>A	c.(304-306)Gac>Aac	p.D102N	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.D102N			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	102	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCCATCTGGTCGCCGTCCAGA	0.701																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													12.0	15.0	14.0					1																	245027306		2145	4237	6382	-	-	-	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.304G>A	1.37:g.245027306C>T	ENSP00000283179:p.Asp102Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.D102N	ENST00000283179.9	37	c.304	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.209539	0.58343	.	.	ENSG00000153187	ENST00000444376;ENST00000283179	T;T	0.49720	0.8;0.77	4.14	4.14	0.48551	.	0.323667	0.23273	U	0.049994	T	0.30386	0.0763	L	0.27053	0.805	0.34250	D	0.678633	P;B	0.35700	0.516;0.382	B;B	0.27262	0.037;0.078	T	0.44205	-0.9343	10	0.23302	T	0.38	-11.7107	13.3449	0.60566	0.0:1.0:0.0:0.0	.	102;102	Q00839-2;Q00839	.;HNRPU_HUMAN	N	102	ENSP00000393151:D102N;ENSP00000283179:D102N	ENSP00000283179:D102N	D	-	1	0	HNRNPU	243093929	0.295000	0.24389	1.000000	0.80357	0.924000	0.55760	1.395000	0.34520	1.842000	0.53543	0.457000	0.33378	GAC	HNRNPU	-	NULL	ENSG00000153187		0.701	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	18	0.00	0	C	NM_031844		245027306	245027306	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	T
HOXA4	3201	genome.wustl.edu	37	7	27169007	27169007	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:27169007C>A	ENST00000360046.5	-	2	865	c.800G>T	c.(799-801)aGg>aTg	p.R267M	RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000521687.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.R267M|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000517550.1_RNA|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	267					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CCACTTCATCCTCCGGTTCTG	0.572																																						dbGAP											0													257.0	212.0	227.0					7																	27169007		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.800G>T	7.37:g.27169007C>A	ENSP00000353151:p.Arg267Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D180|O43366	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.R267M	ENST00000360046.5	37	c.800	CCDS5405.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.977250|3.977250	0.74360|0.74360	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000511914|ENST00000360046;ENST00000428284	.|D;D	.|0.99167	.|-5.51;-5.51	5.29|5.29	4.41|4.41	0.53225|0.53225	.|Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.41396	.|D	.|0.000900	D|D	0.99701|0.99701	0.9886|0.9886	H|H	0.99900|0.99900	4.915|4.915	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.96819|0.96819	0.9602|0.9602	5|10	.|0.87932	.|D	.|0	.|.	15.4572|15.4572	0.75325|0.75325	0.1398:0.8602:0.0:0.0|0.1398:0.8602:0.0:0.0	.|.	.|267	.|Q00056	.|HXA4_HUMAN	D|M	86|267	.|ENSP00000353151:R267M;ENSP00000408845:R267M	.|ENSP00000353151:R267M	E|R	-|-	3|2	2|0	HOXA4|HOXA4	27135532|27135532	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	7.728000|7.728000	0.84847|0.84847	1.235000|1.235000	0.43724|0.43724	0.555000|0.555000	0.69702|0.69702	GAG|AGG	HOXA4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	ENSG00000197576		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	407	0.00	0	C			27169007	27169007	-1	no_errors	ENST00000360046	ensembl	human	known	69_37n	missense	255	10.84	31	SNP	1.000	A
HOXA9	3205	genome.wustl.edu	37	7	27204557	27204557	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:27204557C>T	ENST00000343483.6	-	1	592	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_3'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.A14T|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	174					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCAGAGAAGGCGCCTTCGCTG	0.547			T	"""NUP98, MSI2"""	AML*																																	dbGAP		Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													57.0	63.0	61.0					7																	27204557		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.520G>A	7.37:g.27204557C>T	ENSP00000343619:p.Ala174Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43369|O43429|Q99820	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A174T	ENST00000343483.6	37	c.520	CCDS5409.1	7	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815819	0.32145	.	.	ENSG00000078399;ENSG00000078399;ENSG00000257184	ENST00000343483;ENST00000242050;ENST00000470747	D;D	0.94417	-3.23;-3.42	5.86	5.86	0.93980	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000011	D	0.90222	0.6943	L	0.36672	1.1	0.80722	D	1	B	0.30114	0.269	B	0.26094	0.066	D	0.87072	0.2160	10	0.17832	T	0.49	.	15.6348	0.76944	0.0:0.8633:0.1367:0.0	.	174	P31269	HXA9_HUMAN	T	174;165;14	ENSP00000343619:A174T;ENSP00000421799:A14T	ENSP00000242050:A165T	A	-	1	0	RP1-170O19.20;HOXA9	27171082	0.911000	0.30947	1.000000	0.80357	0.983000	0.72400	0.816000	0.27267	2.779000	0.95612	0.561000	0.74099	GCC	HOXA9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9	ENSG00000078399		0.547	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2	49	0.00	0	C			27204557	27204557	-1	no_errors	ENST00000343483	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	T
HOXA11	3207	genome.wustl.edu	37	7	27222504	27222504	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:27222504C>A	ENST00000006015.3	-	2	924	c.853G>T	c.(853-855)Gtc>Ttc	p.V285F	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA10_ENST00000396344.4_5'Flank|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520395.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	285					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CAGATTTTGACTTGACGATCA	0.463			T	NUP98	CML																																	dbGAP		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													88.0	91.0	90.0					7																	27222504		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.853G>T	7.37:g.27222504C>A	ENSP00000006015:p.Val285Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D190	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.V285F	ENST00000006015.3	37	c.853	CCDS5411.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836170|4.836170	0.91117|0.91117	.|.	.|.	ENSG00000005073|ENSG00000005073	ENST00000517402|ENST00000006015	.|D	.|0.99023	.|-5.34	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.99641|0.99641	0.9868|0.9868	H|H	0.98199|0.98199	4.17|4.17	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97698|0.97698	1.0183|1.0183	5|10	.|0.87932	.|D	.|0	.|.	20.3053|20.3053	0.98627|0.98627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|285	.|P31270	.|HXA11_HUMAN	N|F	254|285	.|ENSP00000006015:V285F	.|ENSP00000006015:V285F	K|V	-|-	3|1	2|0	HOXA11|HOXA11	27189029|27189029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.818000|7.818000	0.86416|0.86416	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	AAG|GTC	HOXA11	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	ENSG00000005073		0.463	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	HGNC	protein_coding	OTTHUMT00000358754.1	44	0.00	0	C			27222504	27222504	-1	no_errors	ENST00000006015	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	A
HPD	3242	genome.wustl.edu	37	12	122285077	122285077	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:122285077C>A	ENST00000289004.4	-	10	675	c.640G>T	c.(640-642)Gac>Tac	p.D214Y	HPD_ENST00000543163.1_Missense_Mutation_p.D175Y|HPD_ENST00000543869.2_Intron	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	214					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACCTGCGTGTCATCCACGGAC	0.562																																						dbGAP											0													144.0	129.0	134.0					12																	122285077		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.640G>T	12.37:g.122285077C>A	ENSP00000289004:p.Asp214Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.D214Y	ENST00000289004.4	37	c.640	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848446	0.91277	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.70045	-0.45;-0.45	5.36	5.36	0.76844	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92272	0.5826	10	0.87932	D	0	-53.0835	19.0819	0.93186	0.0:1.0:0.0:0.0	.	214	P32754	HPPD_HUMAN	Y	214;211;175	ENSP00000289004:D214Y;ENSP00000441677:D175Y	ENSP00000289004:D214Y	D	-	1	0	HPD	120769460	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.466000	0.80914	2.513000	0.84729	0.655000	0.94253	GAC	HPD	-	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	ENSG00000158104		0.562	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	121	0.00	0	C	NM_002150		122285077	122285077	-1	no_errors	ENST00000289004	ensembl	human	known	69_37n	missense	99	13.91	16	SNP	1.000	A
HPGDS	27306	genome.wustl.edu	37	4	95229803	95229803	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:95229803C>A	ENST00000295256.5	-	4	408	c.318G>T	c.(316-318)gaG>gaT	p.E106D	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	106	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CTTGCTTTTTCTCTGCCCAAG	0.383																																					Colon(86;1802 1843 17863 46794)	dbGAP											0													161.0	148.0	152.0					4																	95229803		2203	4300	6503	-	-	-	SO:0001583	missense	0			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.318G>T	4.37:g.95229803C>A	ENSP00000295256:p.Glu106Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHT9	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.E106D	ENST00000295256.5	37	c.318	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892347	0.33442	.	.	ENSG00000163106	ENST00000295256	T	0.02369	4.32	5.33	4.49	0.54785	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	2.214780	0.01868	N	0.037033	T	0.05135	0.0137	L	0.55481	1.735	0.40046	D	0.975713	P	0.41978	0.767	B	0.36030	0.216	T	0.51733	-0.8668	10	0.19590	T	0.45	.	11.6315	0.51178	0.0:0.9134:0.0:0.0866	.	106	O60760	HPGDS_HUMAN	D	106	ENSP00000295256:E106D	ENSP00000295256:E106D	E	-	3	2	HPGDS	95448826	1.000000	0.71417	0.931000	0.37212	0.935000	0.57460	3.271000	0.51608	1.241000	0.43820	0.561000	0.74099	GAG	HPGDS	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000163106		0.383	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	495	0.00	0	C	NM_014485		95229803	95229803	-1	no_errors	ENST00000295256	ensembl	human	known	69_37n	missense	201	26.91	74	SNP	0.999	A
HPS4	89781	genome.wustl.edu	37	22	26854463	26854463	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:26854463C>T	ENST00000398145.2	-	12	2410	c.1794G>A	c.(1792-1794)acG>acA	p.T598T	HPS4_ENST00000398141.1_Silent_p.T611T|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000336873.5_Silent_p.T598T|HPS4_ENST00000402105.3_Silent_p.T593T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	598					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AGGTGCTGCTCGTGGAGGCTG	0.587									Hermansky-Pudlak syndrome																													dbGAP											0													101.0	79.0	86.0					22																	26854463		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1794G>A	22.37:g.26854463C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	NULL	p.T611	ENST00000398145.2	37	c.1833	CCDS13835.1	22																																																																																			HPS4	-	NULL	ENSG00000100099		0.587	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1	103	0.00	0	C	NM_022081		26854463	26854463	-1	no_errors	ENST00000398141	ensembl	human	known	69_37n	silent	56	12.50	8	SNP	0.000	T
HPSE	10855	genome.wustl.edu	37	4	84255812	84255812	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:84255812C>T	ENST00000405413.2	-	2	260	c.124G>A	c.(124-126)Gac>Aac	p.D42N	HPSE_ENST00000311412.5_Missense_Mutation_p.D42N|HPSE_ENST00000512196.1_Missense_Mutation_p.D42N|HPSE_ENST00000513463.1_Missense_Mutation_p.D42N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	42					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	GTGAAGAAGTCCAGGTCCACG	0.697																																						dbGAP											0													32.0	32.0	32.0					4																	84255812		2188	4295	6483	-	-	-	SO:0001583	missense	0			AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.124G>A	4.37:g.84255812C>T	ENSP00000384262:p.Asp42Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.D42N	ENST00000405413.2	37	c.124	CCDS3602.1	4	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248725	0.59103	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000454730;ENST00000512196;ENST00000513463	T;T;T;T	0.45276	0.93;0.93;0.9;0.92	4.24	2.42	0.29668	.	0.858457	0.10381	N	0.681539	T	0.27313	0.0670	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.003	B;B;B	0.17098	0.001;0.017;0.003	T	0.22312	-1.0220	10	0.22109	T	0.4	-0.0779	6.5796	0.22585	0.0:0.5518:0.3476:0.1006	.	42;42;42	E9PCA9;E9PGR1;Q9Y251	.;.;HPSE_HUMAN	N	42;42;29;42;42	ENSP00000308107:D42N;ENSP00000384262:D42N;ENSP00000423265:D42N;ENSP00000421365:D42N	ENSP00000308107:D42N	D	-	1	0	HPSE	84474836	0.973000	0.33851	0.443000	0.26883	0.760000	0.43138	0.543000	0.23237	0.973000	0.38340	0.313000	0.20887	GAC	HPSE	-	NULL	ENSG00000173083		0.697	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HPSE	HGNC	protein_coding	OTTHUMT00000252812.2	173	0.00	0	C	NM_006665		84255812	84255812	-1	no_errors	ENST00000311412	ensembl	human	known	69_37n	missense	94	15.93	18	SNP	0.263	T
HPX	3263	genome.wustl.edu	37	11	6452484	6452484	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6452484G>A	ENST00000265983.3	-	10	1446	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	449					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTGGGGTTGCGGAAGGGCCTT	0.537																																						dbGAP											0													97.0	88.0	91.0					11																	6452484		2201	4296	6497	-	-	-	SO:0001583	missense	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1346C>T	11.37:g.6452484G>A	ENSP00000265983:p.Pro449Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R957	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	p.P449L	ENST00000265983.3	37	c.1346	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541404	0.45280	.	.	ENSG00000110169	ENST00000265983	T	0.11930	2.73	5.49	5.49	0.81192	Hemopexin/matrixin (2);	0.049706	0.85682	D	0.000000	T	0.30039	0.0752	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	P	0.53549	0.729	T	0.01409	-1.1362	10	0.33940	T	0.23	-17.0869	16.8638	0.86024	0.0:0.0:1.0:0.0	.	449	P02790	HEMO_HUMAN	L	449	ENSP00000265983:P449L	ENSP00000265983:P449L	P	-	2	0	HPX	6409060	0.988000	0.35896	0.626000	0.29213	0.016000	0.09150	5.159000	0.64923	2.595000	0.87683	0.561000	0.74099	CCG	HPX	-	superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata	ENSG00000110169		0.537	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	277	0.00	0	G	NM_000613		6452484	6452484	-1	no_errors	ENST00000265983	ensembl	human	known	69_37n	missense	158	30.74	71	SNP	0.772	A
HRG	3273	genome.wustl.edu	37	3	186390602	186390602	+	Missense_Mutation	SNP	C	C	A	rs193063661	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:186390602C>A	ENST00000232003.4	+	5	665	c.585C>A	c.(583-585)ttC>ttA	p.F195L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	195	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.F195F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTGGTTACTTCGTGGACTTCT	0.433																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											101.0	97.0	98.0					3																	186390602		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.585C>A	3.37:g.186390602C>A	ENSP00000232003:p.Phe195Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.F195L	ENST00000232003.4	37	c.585	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	C	6.538	0.467571	0.12402	.	.	ENSG00000113905	ENST00000232003	T	0.12569	2.67	4.35	-7.38	0.01407	Proteinase inhibitor I25, cystatin (1);	0.865694	0.09590	N	0.781615	T	0.09335	0.0230	L	0.34521	1.04	0.09310	N	1	B	0.30326	0.276	B	0.26693	0.072	T	0.09357	-1.0678	10	0.41790	T	0.15	-14.1834	14.0551	0.64764	0.0:0.6741:0.0:0.3259	.	195	P04196	HRG_HUMAN	L	195	ENSP00000232003:F195L	ENSP00000232003:F195L	F	+	3	2	HRG	187873296	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.774000	0.01784	-1.556000	0.01695	-0.258000	0.10820	TTC	HRG	-	smart_Prot_inh_cystat	ENSG00000113905		0.433	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	664	0.00	0	C	NM_000412		186390602	186390602	+1	no_errors	ENST00000232003	ensembl	human	known	69_37n	missense	471	25.67	163	SNP	0.002	A
HRH2	3274	genome.wustl.edu	37	5	175111227	175111227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:175111227G>T	ENST00000231683.2	+	1	2764	c.991G>T	c.(991-993)Gaa>Taa	p.E331*	HRH2_ENST00000377291.2_Nonsense_Mutation_p.E331*	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	331					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CCAAAGCCGAGAACCCAGGCA	0.597																																						dbGAP											0													81.0	86.0	85.0					5																	175111227		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.991G>T	5.37:g.175111227G>T	ENSP00000231683:p.Glu331*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUP7|Q14464|Q7Z5R9	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.E331*	ENST00000231683.2	37	c.991	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.137376	0.98672	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	.	.	.	4.65	2.69	0.31865	.	1.089560	0.07002	N	0.823511	.	.	.	.	.	.	0.47245	D	0.999367	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	8.3826	0.32481	0.0995:0.2466:0.6539:0.0	.	.	.	.	X	331	.	ENSP00000231683:E331X	E	+	1	0	HRH2	175043833	0.000000	0.05858	0.012000	0.15200	0.738000	0.42128	0.015000	0.13355	1.121000	0.41925	0.650000	0.86243	GAA	HRH2	-	prints_Histamine_H2_recept	ENSG00000113749		0.597	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	245	0.41	1	G			175111227	175111227	+1	no_errors	ENST00000377291	ensembl	human	known	69_37n	nonsense	144	11.66	19	SNP	0.002	T
HRNR	388697	genome.wustl.edu	37	1	152192930	152192930	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152192930G>T	ENST00000368801.2	-	3	1250	c.1175C>A	c.(1174-1176)tCc>tAc	p.S392Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	392					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTGAGCTGGAGCCATGTTG	0.577																																						dbGAP											0													165.0	142.0	149.0					1																	152192930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1175C>A	1.37:g.152192930G>T	ENSP00000357791:p.Ser392Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S392Y	ENST00000368801.2	37	c.1175	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	6.140	0.394068	0.11638	.	.	ENSG00000197915	ENST00000368801	T	0.06849	3.25	3.8	1.74	0.24563	.	.	.	.	.	T	0.05731	0.0150	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.65987	0.94	T	0.29549	-1.0008	9	0.62326	D	0.03	.	7.8552	0.29478	0.0:0.1777:0.639:0.1833	.	392	Q86YZ3	HORN_HUMAN	Y	392	ENSP00000357791:S392Y	ENSP00000357791:S392Y	S	-	2	0	HRNR	150459554	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.937000	0.28951	0.324000	0.23333	0.644000	0.83932	TCC	HRNR	-	NULL	ENSG00000197915		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	69	0.00	0	G	XM_373868		152192930	152192930	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	missense	40	20.00	10	SNP	0.003	T
HS3ST5	222537	genome.wustl.edu	37	6	114378693	114378693	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:114378693G>A	ENST00000312719.5	-	5	1957	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R257C|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	257					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTGATGAGGCGATCTCCATCG	0.423																																						dbGAP											0													150.0	146.0	147.0					6																	114378693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.769C>T	6.37:g.114378693G>A	ENSP00000427888:p.Arg257Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R257C	ENST00000312719.5	37	c.769	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073697	0.55646	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.55760	0.5;0.5	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.70532	-0.4846	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	257	Q8IZT8	HS3S5_HUMAN	C	257	ENSP00000427888:R257C;ENSP00000440332:R257C	ENSP00000427888:R257C	R	-	1	0	HS3ST5	114485386	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.308000	0.65768	2.882000	0.98803	0.655000	0.94253	CGC	HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.423	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	323	0.00	0	G	NM_153612		114378693	114378693	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	missense	251	13.10	38	SNP	1.000	A
HS6ST3	266722	genome.wustl.edu	37	13	97485280	97485280	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:97485280T>C	ENST00000376705.2	+	2	1268	c.1244T>C	c.(1243-1245)tTc>tCc	p.F415S		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	415					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AAAGATCTCTTCCAGCAGCGC	0.592																																						dbGAP											0													92.0	88.0	89.0					13																	97485280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1244T>C	13.37:g.97485280T>C	ENSP00000365895:p.Phe415Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0L0|Q68CW6	Missense_Mutation	SNP	pfam_Sulfotransferase	p.F415S	ENST00000376705.2	37	c.1244	CCDS9481.1	13	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740323	0.89573	.	.	ENSG00000185352	ENST00000376705	D	0.86694	-2.16	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.91891	0.7433	L	0.53561	1.675	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.92623	0.6109	10	0.87932	D	0	23.8891	16.3123	0.82883	0.0:0.0:0.0:1.0	.	415	Q8IZP7	H6ST3_HUMAN	S	415	ENSP00000365895:F415S	ENSP00000365895:F415S	F	+	2	0	HS6ST3	96283281	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.254000	0.74563	0.459000	0.35465	TTC	HS6ST3	-	NULL	ENSG00000185352		0.592	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST3	HGNC	protein_coding	OTTHUMT00000045517.2	122	0.81	1	T	NM_153456		97485280	97485280	+1	no_errors	ENST00000376705	ensembl	human	known	69_37n	missense	109	20.71	29	SNP	1.000	C
HSD17B7P2	158160	genome.wustl.edu	37	10	38651209	38651209	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:38651209G>T	ENST00000494540.1	+	0	356					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		CTAAATGCTGGGATCATGCCT	0.358																																						dbGAP											0																																										-	-	-			0					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38651209G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000494540.1	37	NULL		10																																																																																			HSD17B7P2	-	-	ENSG00000099251		0.358	HSD17B7P2-001	KNOWN	basic	processed_transcript	HSD17B7P2	HGNC	pseudogene	OTTHUMT00000047631.2	292	0.00	0	G	NR_003086		38651209	38651209	+1	no_errors	ENST00000494540	ensembl	human	known	69_37n	rna	221	16.92	45	SNP	1.000	T
HSDL2	84263	genome.wustl.edu	37	9	115200848	115200848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115200848G>T	ENST00000398805.3	+	7	963	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	HSDL2_ENST00000398803.1_Nonsense_Mutation_p.E173*|HSDL2_ENST00000539114.1_Nonsense_Mutation_p.E41*|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Nonsense_Mutation_p.E126*	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	246						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TGTCATTGATGAAAATATCTT	0.308																																						dbGAP											0													60.0	57.0	58.0					9																	115200848		1812	4070	5882	-	-	-	SO:0001587	stop_gained	0			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.736G>T	9.37:g.115200848G>T	ENSP00000381785:p.Glu246*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Nonsense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.E246*	ENST00000398805.3	37	c.736	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.541337	0.97650	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	.	.	.	5.71	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.2569	0.66058	0.0709:0.0:0.9291:0.0	.	.	.	.	X	246;173;126;41	.	ENSP00000262542:E126X	E	+	1	0	HSDL2	114240669	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.367000	0.97148	1.418000	0.47098	0.591000	0.81541	GAA	HSDL2	-	NULL	ENSG00000119471		0.308	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	226	0.00	0	G	NM_032303		115200848	115200848	+1	no_errors	ENST00000398805	ensembl	human	known	69_37n	nonsense	154	12.00	21	SNP	1.000	T
HSP90AA1	3320	genome.wustl.edu	37	14	102568379	102568379	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:102568379G>T	ENST00000334701.7	-	2	480	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AGATGCCAGAGAAACACTTGG	0.507																																						dbGAP											0													142.0	125.0	130.0					14																	102568379		2203	4300	6503	-	-	-	SO:0001583	missense	0			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000334701.7:c.199C>A	14.37:g.102568379G>T	ENSP00000335153:p.Leu67Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N	p.L67I	ENST00000334701.7	37	c.199	CCDS32160.1	14	.	.	.	.	.	.	.	.	.	.	G	6.571	0.473747	0.12521	.	.	ENSG00000080824	ENST00000334701	T	0.13307	2.6	1.61	1.61	0.23674	.	.	.	.	.	T	0.06872	0.0175	N	0.08118	0	0.09310	N	0.999991	B	0.20052	0.041	B	0.11329	0.006	T	0.29305	-1.0016	9	0.87932	D	0	.	6.6618	0.23018	0.0:0.0:1.0:0.0	.	67	P07900-2	.	I	67	ENSP00000335153:L67I	ENSP00000335153:L67I	L	-	1	0	HSP90AA1	101638132	0.001000	0.12720	0.002000	0.10522	0.038000	0.13279	0.528000	0.23002	1.197000	0.43143	0.436000	0.28706	CTC	HSP90AA1	-	NULL	ENSG00000080824		0.507	HSP90AA1-001	KNOWN	basic|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414953.1	115	0.00	0	G	NM_005348		102568379	102568379	-1	no_errors	ENST00000334701	ensembl	human	known	69_37n	missense	121	12.95	18	SNP	0.002	T
HSPA14	51182	genome.wustl.edu	37	10	14912623	14912623	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:14912623G>T	ENST00000378372.3	+	13	1647	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	470					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AGATAAAAAAGAAAATGGATT	0.264																																						dbGAP											0													66.0	67.0	66.0					10																	14912623		2201	4290	6491	-	-	-	SO:0001587	stop_gained	0			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1408G>T	10.37:g.14912623G>T	ENSP00000367623:p.Glu470*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Nonsense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E470*	ENST00000378372.3	37	c.1408	CCDS7103.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.029320	0.98013	.	.	ENSG00000187522	ENST00000378372	.	.	.	5.41	4.5	0.54988	.	0.259165	0.43416	D	0.000564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.9089	13.9829	0.64315	0.0742:0.0:0.9257:0.0	.	.	.	.	X	470	.	ENSP00000367623:E470X	E	+	1	0	HSPA14	14952629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	1.409000	0.46915	0.655000	0.94253	GAA	HSPA14	-	pfam_Hsp_70_fam	ENSG00000187522		0.264	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	158	0.00	0	G	NM_016299		14912623	14912623	+1	no_errors	ENST00000378372	ensembl	human	known	69_37n	nonsense	85	16.67	17	SNP	1.000	T
HSPA4	3308	genome.wustl.edu	37	5	132412476	132412476	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:132412476G>A	ENST00000304858.2	+	7	1083	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	265					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCATTATTACGACTCTCTCAG	0.358																																					Colon(114;1299 1588 6063 12302 48757)	dbGAP											0													121.0	122.0	121.0					5																	132412476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.794G>A	5.37:g.132412476G>A	ENSP00000302961:p.Arg265Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R265Q	ENST00000304858.2	37	c.794	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.213239	0.95069	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01446	4.88	5.52	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46898	-0.9158	10	0.87932	D	0	-3.8618	14.4104	0.67111	0.0711:0.0:0.9289:0.0	.	265	P34932	HSP74_HUMAN	Q	265	ENSP00000302961:R265Q	ENSP00000302961:R265Q	R	+	2	0	HSPA4	132440375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	1.464000	0.47987	0.591000	0.81541	CGA	HSPA4	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000170606		0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	407	0.00	0	G	NM_002154, NM_198431		132412476	132412476	+1	no_errors	ENST00000304858	ensembl	human	known	69_37n	missense	367	11.35	47	SNP	1.000	A
HSPA4L	22824	genome.wustl.edu	37	4	128726847	128726847	+	Silent	SNP	G	G	A	rs577260042		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:128726847G>A	ENST00000296464.4	+	10	1554	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	HSPA4L_ENST00000505726.1_Silent_p.A355A|HSPA4L_ENST00000439123.2_Silent_p.A412A|HSPA4L_ENST00000508776.1_Silent_p.A381A	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	381					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTCAGTGTGCGATTCTCTCAC	0.358													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15529	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													108.0	103.0	104.0					4																	128726847		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1143G>A	4.37:g.128726847G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A412	ENST00000296464.4	37	c.1236	CCDS3734.1	4																																																																																			HSPA4L	-	pfam_Hsp_70_fam,prints_Hsp_70_fam	ENSG00000164070		0.358	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	175	0.00	0	G	NM_014278		128726847	128726847	+1	no_errors	ENST00000439123	ensembl	human	known	69_37n	silent	109	30.57	48	SNP	0.985	A
HSPA5	3309	genome.wustl.edu	37	9	128002529	128002529	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:128002529C>A	ENST00000324460.6	-	3	617	c.414G>T	c.(412-414)aaG>aaT	p.K138N	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	138					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GAGCAAATGTCTTTGTTTGCC	0.338										Prostate(1;0.17)																												dbGAP											0													89.0	83.0	85.0					9																	128002529		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.414G>T	9.37:g.128002529C>A	ENSP00000324173:p.Lys138Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K138N	ENST00000324460.6	37	c.414	CCDS6863.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092044	0.76756	.	.	ENSG00000044574	ENST00000324460;ENST00000401067	T	0.01133	5.29	4.71	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	H	0.96080	3.765	0.80722	D	1	D	0.62365	0.991	P	0.59221	0.854	T	0.00523	-1.1690	10	0.87932	D	0	-10.6673	5.9712	0.19353	0.0:0.5072:0.0:0.4928	.	138	P11021	GRP78_HUMAN	N	138	ENSP00000324173:K138N	ENSP00000324173:K138N	K	-	3	2	HSPA5	127042350	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.060000	0.30530	0.420000	0.25954	0.561000	0.74099	AAG	HSPA5	-	pfam_Hsp_70_fam	ENSG00000044574		0.338	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA5	HGNC	protein_coding	OTTHUMT00000054062.1	346	0.00	0	C			128002529	128002529	-1	no_errors	ENST00000324460	ensembl	human	known	69_37n	missense	193	14.60	33	SNP	1.000	A
HSPD1	3329	genome.wustl.edu	37	2	198359469	198359469	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:198359469G>A	ENST00000388968.3	-	5	785	c.518C>T	c.(517-519)aCg>aTg	p.T173M	HSPD1_ENST00000345042.2_Missense_Mutation_p.T173M	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	173					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TGCAGAAATCGTAGCAACCTG	0.378																																						dbGAP											0													81.0	76.0	78.0					2																	198359469		2203	4299	6502	-	-	-	SO:0001583	missense	0			M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.518C>T	2.37:g.198359469G>A	ENSP00000373620:p.Thr173Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60	p.T173M	ENST00000388968.3	37	c.518	CCDS33357.1	2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997448	0.93227	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000536745;ENST00000430176;ENST00000452200	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	H	0.96048	3.76	0.80722	D	1	D;D;P	0.63046	0.992;0.974;0.861	P;P;B	0.60415	0.874;0.835;0.276	D	0.94021	0.7292	10	0.87932	D	0	-6.7074	18.7354	0.91751	0.0:0.0:1.0:0.0	.	164;173;173	B7Z597;B3GQS7;P10809	.;.;CH60_HUMAN	M	173;173;29;173;173	ENSP00000373620:T173M;ENSP00000340019:T173M;ENSP00000393670:T173M;ENSP00000412717:T173M	ENSP00000340019:T173M	T	-	2	0	HSPD1	198067714	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.721000	0.98766	2.487000	0.83934	0.585000	0.79938	ACG	HSPD1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60	ENSG00000144381		0.378	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPD1	HGNC	protein_coding	OTTHUMT00000335324.2	101	0.00	0	G	NM_002156		198359469	198359469	-1	no_errors	ENST00000345042	ensembl	human	known	69_37n	missense	99	11.61	13	SNP	1.000	A
HSPH1	10808	genome.wustl.edu	37	13	31724157	31724157	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:31724157G>T	ENST00000320027.5	-	8	1415	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	HSPH1_ENST00000380405.4_Missense_Mutation_p.F357L|HSPH1_ENST00000445273.2_Missense_Mutation_p.F359L|HSPH1_ENST00000380406.5_Missense_Mutation_p.F316L|HSPH1_ENST00000429785.2_Missense_Mutation_p.F176L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	357					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTTTTCCAAAGAATTTGGCAA	0.418																																						dbGAP											0													127.0	125.0	125.0					13																	31724157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1071C>A	13.37:g.31724157G>T	ENSP00000318687:p.Phe357Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.F359L	ENST00000320027.5	37	c.1077	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977930	0.53720	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785;ENST00000438061	T;T;T;T;T	0.00892	5.57;5.57;5.57;5.57;5.57	5.68	1.87	0.25490	.	0.000000	0.85682	D	0.000000	T	0.02455	0.0075	L	0.45698	1.435	0.45899	D	0.998741	D;B;D;B;D	0.59767	0.971;0.04;0.986;0.086;0.972	P;B;P;B;P	0.62014	0.897;0.09;0.897;0.121;0.824	T	0.59542	-0.7435	10	0.52906	T	0.07	-17.241	9.4627	0.38794	0.2978:0.0:0.7022:0.0	.	176;316;359;357;357	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	L	357;357;316;359;176;408	ENSP00000318687:F357L;ENSP00000369768:F357L;ENSP00000369769:F316L;ENSP00000396090:F359L;ENSP00000388778:F176L	ENSP00000318687:F357L	F	-	3	2	HSPH1	30622157	1.000000	0.71417	0.995000	0.50966	0.100000	0.18952	3.229000	0.51278	0.299000	0.22661	-0.218000	0.12543	TTC	HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000120694		0.418	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	189	0.00	0	G			31724157	31724157	-1	no_errors	ENST00000445273	ensembl	human	known	69_37n	missense	146	14.62	25	SNP	1.000	T
HTATSF1	27336	genome.wustl.edu	37	X	135593995	135593995	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135593995C>T	ENST00000218364.4	+	9	2265	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	HTATSF1_ENST00000535601.1_Silent_p.F697F	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	697	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F697F(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTTGTTCGAAGATGATG	0.418													C|||	1	0.000264901	0.0008	0.0	3775	,	,		2097	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											227.0	195.0	206.0					X																	135593995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2091C>T	X.37:g.135593995C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG9|Q59G06|Q99730	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F697	ENST00000218364.4	37	c.2091	CCDS14657.1	X																																																																																			HTATSF1	-	NULL	ENSG00000102241		0.418	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	1135	0.09	1	C	NM_014500		135593995	135593995	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	silent	993	13.86	160	SNP	0.000	T
HTR7	3363	genome.wustl.edu	37	10	92509171	92509171	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:92509171C>T	ENST00000336152.3	-	2	746	c.720G>A	c.(718-720)acG>acA	p.T240T	HTR7_ENST00000371719.2_Silent_p.T240T|HTR7_ENST00000277874.6_Silent_p.T240T|HTR7_ENST00000371721.3_Silent_p.T240T	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	240					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TAGAGTAAATCGTATAGCCAA	0.473																																						dbGAP											0													88.0	92.0	91.0					10																	92509171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.720G>A	10.37:g.92509171C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT_7_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.T240	ENST00000336152.3	37	c.720	CCDS7408.1	10																																																																																			HTR7	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000148680		0.473	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	181	0.00	0	C	NM_000872		92509171	92509171	-1	no_errors	ENST00000336152	ensembl	human	known	69_37n	silent	130	26.55	47	SNP	0.055	T
HTR7	3363	genome.wustl.edu	37	10	92617141	92617141	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:92617141G>A	ENST00000336152.3	-	1	314	c.288C>T	c.(286-288)atC>atT	p.I96I	HTR7_ENST00000371719.2_Silent_p.I96I|HTR7_ENST00000277874.6_Silent_p.I96I|HTR7_ENST00000371721.3_Silent_p.I96I	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	96					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGTTGCCCGCGATCGTCAGCA	0.617																																						dbGAP											0													80.0	74.0	76.0					10																	92617141		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.288C>T	10.37:g.92617141G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT_7_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.I96	ENST00000336152.3	37	c.288	CCDS7408.1	10																																																																																			HTR7	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000148680		0.617	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	49	0.00	0	G	NM_000872		92617141	92617141	-1	no_errors	ENST00000336152	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	A
HTRA1	5654	genome.wustl.edu	37	10	124268261	124268261	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:124268261G>A	ENST00000368984.3	+	6	1223	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	365	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGTTCCTCACGGAGTCCCATG	0.517																																						dbGAP											0													98.0	102.0	100.0					10																	124268261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1095G>A	10.37:g.124268261G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRE4|Q9UNS5	Silent	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.T365	ENST00000368984.3	37	c.1095	CCDS7630.1	10																																																																																			HTRA1	-	superfamily_Pept_cys/ser_Trypsin-like,pfscan_PDZ	ENSG00000166033		0.517	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	86	0.00	0	G	NM_002775		124268261	124268261	+1	no_errors	ENST00000368984	ensembl	human	known	69_37n	silent	49	25.76	17	SNP	0.027	A
HUNK	30811	genome.wustl.edu	37	21	33312492	33312492	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33312492G>T	ENST00000270112.2	+	3	930	c.570G>T	c.(568-570)gaG>gaT	p.E190D		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGAAGATAGAGAATTTGCTAC	0.308																																						dbGAP											0													133.0	128.0	130.0					21																	33312492		2201	4298	6499	-	-	-	SO:0001583	missense	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.570G>T	21.37:g.33312492G>T	ENSP00000270112:p.Glu190Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E190D	ENST00000270112.2	37	c.570	CCDS13610.1	21	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826143	0.71143	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	T;T	0.27104	1.69;1.69	5.22	2.89	0.33648	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.65975	2.015	0.50039	D	0.999845	D	0.89917	1.0	D	0.85130	0.997	T	0.32348	-0.9910	10	0.87932	D	0	-27.252	8.6492	0.34025	0.8391:0.0:0.1609:0.0	.	190	P57058	HUNK_HUMAN	D	190;75	ENSP00000270112:E190D;ENSP00000411860:E75D	ENSP00000270112:E190D	E	+	3	2	HUNK	32234363	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.921000	0.48852	0.550000	0.28991	-0.471000	0.05019	GAG	HUNK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000142149		0.308	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	359	0.00	0	G	NM_014586		33312492	33312492	+1	no_errors	ENST00000270112	ensembl	human	known	69_37n	missense	248	11.43	32	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53560294	53560294	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53560294G>A	ENST00000342160.3	-	83	13558	c.13101C>T	c.(13099-13101)tgC>tgT	p.C4367C	HUWE1_ENST00000262854.6_Silent_p.C4367C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4367	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCCTTCAGAGCACTCCTGGA	0.493																																						dbGAP											0													45.0	40.0	42.0					X																	53560294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13101C>T	X.37:g.53560294G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_HECT,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.L3401F	ENST00000342160.3	37	c.10201	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513048	0.12944	.	.	ENSG00000086758	ENST00000427052;ENST00000426907	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	T	0.73458	0.3589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72727	-0.4206	4	.	.	.	.	16.9323	0.86193	0.0:0.0:1.0:0.0	.	.	.	.	F	3401;1190	.	.	L	-	1	0	HUWE1	53577019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.014000	0.57145	2.347000	0.79759	0.513000	0.50165	CTC	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	226	0.00	0	G	XM_497119		53560294	53560294	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427052	ensembl	human	known	69_37n	missense	193	20.82	51	SNP	1.000	A
HUWE1	10075	genome.wustl.edu	37	X	53566024	53566024	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53566024C>T	ENST00000342160.3	-	75	12107	c.11650G>A	c.(11650-11652)Gag>Aag	p.E3884K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3884K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3884					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGAAGGCCTCGACAGCAGGC	0.507																																						dbGAP											0													59.0	47.0	51.0					X																	53566024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11650G>A	X.37:g.53566024C>T	ENSP00000340648:p.Glu3884Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E3884K	ENST00000342160.3	37	c.11650	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.67|13.67	2.307620|2.307620	0.40795|0.40795	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.61627|.	0.09;0.09|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.232654|.	0.35349|.	N|.	0.003264|.	T|T	0.70666|0.70666	0.3250|0.3250	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.992;0.999|.	D;P;D|.	0.83275|.	0.996;0.905;0.982|.	T|T	0.69756|0.69756	-0.5059|-0.5059	10|5	0.87932|.	D|.	0|.	.|.	16.3498|16.3498	0.83199|0.83199	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	706;3884;3868|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	K|Q	3884|2917;706	ENSP00000340648:E3884K;ENSP00000262854:E3884K|.	ENSP00000262854:E3884K|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53582749|53582749	1.000000|1.000000	0.71417|0.71417	0.450000|0.450000	0.26969|0.26969	0.416000|0.416000	0.31233|0.31233	6.988000|6.988000	0.76212|0.76212	2.112000|2.112000	0.64535|0.64535	0.600000|0.600000	0.82982|0.82982	GAG|CGA	HUWE1	-	NULL	ENSG00000086758		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	248	0.00	0	C	XM_497119		53566024	53566024	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	232	12.78	34	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53574688	53574688	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53574688C>T	ENST00000342160.3	-	67	11039	c.10582G>A	c.(10582-10584)Gta>Ata	p.V3528I	HUWE1_ENST00000262854.6_Missense_Mutation_p.V3528I|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3528	Thr-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.V3528L(2)|p.V3418L(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGCAGCTACGACAATGGTG	0.577																																						dbGAP											4	Substitution - Missense(4)	lung(4)											96.0	72.0	80.0					X																	53574688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10582G>A	X.37:g.53574688C>T	ENSP00000340648:p.Val3528Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.V3528I	ENST00000342160.3	37	c.10582	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	8.058|8.058	0.767440|0.767440	0.15983|0.15983	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.36878	.|1.23;1.23	5.56|5.56	1.83|1.83	0.25207|0.25207	.|.	.|1.521260	.|0.03521	.|N	.|0.221096	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.08118|0.08118	0|0	0.33242|0.33242	D|D	0.557305|0.557305	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.21245|0.21245	-1.0251|-1.0251	5|10	.|0.37606	.|T	.|0.19	.|.	6.8676|6.8676	0.24102|0.24102	0.0:0.52:0.0:0.48|0.0:0.52:0.0:0.48	.|.	.|3528;3512	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	H|I	2561;365|3528	.|ENSP00000340648:V3528I;ENSP00000262854:V3528I	.|ENSP00000262854:V3528I	R|V	-|-	2|1	0|0	HUWE1|HUWE1	53591413|53591413	0.748000|0.748000	0.28294|0.28294	0.455000|0.455000	0.27031|0.27031	0.832000|0.832000	0.47134|0.47134	0.363000|0.363000	0.20301|0.20301	0.179000|0.179000	0.19938|0.19938	0.597000|0.597000	0.82753|0.82753	CGT|GTA	HUWE1	-	NULL	ENSG00000086758		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	760	0.00	0	C	XM_497119		53574688	53574688	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	505	10.74	61	SNP	0.745	T
HUWE1	10075	genome.wustl.edu	37	X	53577889	53577889	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53577889C>T	ENST00000342160.3	-	64	9815	c.9358G>A	c.(9358-9360)Gca>Aca	p.A3120T	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3120T|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3120					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCAGAGAGTGCGGAGGTGCTA	0.552																																						dbGAP											0													48.0	36.0	40.0					X																	53577889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9358G>A	X.37:g.53577889C>T	ENSP00000340648:p.Ala3120Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A3120T	ENST00000342160.3	37	c.9358	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.63|17.63	3.437992|3.437992	0.62955|0.62955	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.39592|.	1.07;1.07|.	5.75|5.75	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59528|0.59528	0.2200|0.2200	L|L	0.42686|0.42686	1.345|1.345	0.58432|0.58432	D|D	0.999999|0.999999	P;P|.	0.46912|.	0.886;0.879|.	B;B|.	0.35770|.	0.146;0.21|.	T|T	0.55515|0.55515	-0.8129|-0.8129	10|5	0.27082|.	T|.	0.32|.	.|.	13.9004|13.9004	0.63799|0.63799	0.1537:0.8463:0.0:0.0|0.1537:0.8463:0.0:0.0	.|.	3120;3104|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|H	3120|2153	ENSP00000340648:A3120T;ENSP00000262854:A3120T|.	ENSP00000262854:A3120T|.	A|R	-|-	1|2	0|0	HUWE1|HUWE1	53594614|53594614	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.883000|0.883000	0.51084|0.51084	7.106000|7.106000	0.77039|0.77039	1.148000|1.148000	0.42385|0.42385	0.513000|0.513000	0.50165|0.50165	GCA|CGC	HUWE1	-	NULL	ENSG00000086758		0.552	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	133	0.00	0	C	XM_497119		53577889	53577889	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	99	15.97	19	SNP	0.999	T
HYDIN	54768	genome.wustl.edu	37	16	71101232	71101232	+	Missense_Mutation	SNP	C	C	T	rs376479610		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:71101232C>T	ENST00000393567.2	-	15	2186	c.2036G>A	c.(2035-2037)gGc>gAc	p.G679D	HYDIN_ENST00000448089.2_Missense_Mutation_p.G679D|HYDIN_ENST00000538248.1_Missense_Mutation_p.G706D|HYDIN_ENST00000393550.2_Missense_Mutation_p.G694D|HYDIN_ENST00000541601.1_Missense_Mutation_p.G696D|HYDIN_ENST00000288168.10_Missense_Mutation_p.G696D|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000448691.1_Missense_Mutation_p.G679D|HYDIN_ENST00000321489.5_Missense_Mutation_p.G679D	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	679					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTCCGATGCCCTCCACGTC	0.537																																						dbGAP											0													74.0	64.0	67.0					16																	71101232		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2036G>A	16.37:g.71101232C>T	ENSP00000377197:p.Gly679Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.G679D	ENST00000393567.2	37	c.2036	CCDS59269.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.500967|4.500967	0.85176|0.85176	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000542890|ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	.|T;T;T;T;T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	.|0.000000	.|0.33610	.|U	.|0.004721	T|T	0.70404|0.70404	0.3220|0.3220	M|M	0.65975|0.65975	2.015|2.015	0.49915|0.49915	D|D	0.999833|0.999833	.|D;D;D;D;D	.|0.89917	.|0.993;0.993;0.957;0.993;1.0	.|P;P;P;P;D	.|0.91635	.|0.903;0.903;0.723;0.876;0.999	T|T	0.68941|0.68941	-0.5276|-0.5276	5|10	.|0.34782	.|T	.|0.22	.|.	17.1332|17.1332	0.86732|0.86732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|706;696;696;679;679	.|B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.|.;.;.;.;.	T|D	81|679;679;679;679;679;706;696;696;694	.|ENSP00000377197:G679D;ENSP00000398544:G679D;ENSP00000394826:G679D;ENSP00000314736:G679D;ENSP00000444970:G706D;ENSP00000437341:G696D;ENSP00000288168:G696D;ENSP00000377181:G694D	.|ENSP00000288168:G696D	A|G	-|-	1|2	0|0	HYDIN|HYDIN	69658733|69658733	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	6.378000|6.378000	0.73150|0.73150	2.332000|2.332000	0.79248|0.79248	0.603000|0.603000	0.83216|0.83216	GCA|GGC	HYDIN	-	NULL	ENSG00000157423		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	191	0.00	0	C			71101232	71101232	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	76	25.96	27	SNP	1.000	T
HYOU1	10525	genome.wustl.edu	37	11	118925946	118925946	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118925946C>T	ENST00000404233.3	-	5	494	c.370G>A	c.(370-372)Gag>Aag	p.E124K	HYOU1_ENST00000529972.1_Missense_Mutation_p.E124K|HYOU1_ENST00000543287.1_Missense_Mutation_p.E37K|HYOU1_ENST00000525859.1_Missense_Mutation_p.E124K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	124					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AAAGTCAGCTCGTGCTCCGGG	0.572																																						dbGAP											0													120.0	116.0	117.0					11																	118925946		2200	4295	6495	-	-	-	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.370G>A	11.37:g.118925946C>T	ENSP00000384144:p.Glu124Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E124K	ENST00000404233.3	37	c.370	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379085	0.42207	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00966	5.49;5.49;5.49;5.49;5.49	5.55	5.55	0.83447	.	0.052792	0.85682	D	0.000000	T	0.00580	0.0019	N	0.05158	-0.105	0.52099	D	0.999943	P;P;P	0.41624	0.589;0.757;0.757	B;B;B	0.34722	0.13;0.188;0.188	T	0.70561	-0.4838	10	0.05959	T	0.93	-31.3375	15.0448	0.71819	0.0:0.8584:0.1416:0.0	.	168;124;124	B7Z2N4;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	K	124;115;124;124;124;124;167;37;124	ENSP00000384144:E124K;ENSP00000437313:E124K;ENSP00000433397:E124K;ENSP00000442727:E37K;ENSP00000431874:E124K	ENSP00000278752:E115K	E	-	1	0	HYOU1	118431156	1.000000	0.71417	0.994000	0.49952	0.179000	0.23085	4.094000	0.57721	2.595000	0.87683	0.561000	0.74099	GAG	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.572	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	114	0.00	0	C	NM_006389		118925946	118925946	-1	no_errors	ENST00000404233	ensembl	human	known	69_37n	missense	75	13.79	12	SNP	1.000	T
IARS2	55699	genome.wustl.edu	37	1	220313567	220313567	+	Missense_Mutation	SNP	C	C	T	rs539149720		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:220313567C>T	ENST00000302637.5	+	19	2454	c.2350C>T	c.(2350-2352)Cgg>Tgg	p.R784W	IARS2_ENST00000467924.1_3'UTR|snoU13_ENST00000459443.1_RNA|IARS2_ENST00000366922.1_Missense_Mutation_p.R712W	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	784					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAAGTTGTTCGGCTGTTACG	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20056	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	82.0	82.0					1																	220313567		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2350C>T	1.37:g.220313567C>T	ENSP00000303279:p.Arg784Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.R784W	ENST00000302637.5	37	c.2350	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190032	0.78789	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.15139	2.45;2.45	5.3	4.36	0.52297	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.55642	-0.8109	10	0.87932	D	0	-15.0424	13.5637	0.61804	0.1607:0.8392:0.0:0.0	.	784	Q9NSE4	SYIM_HUMAN	W	712;784	ENSP00000355889:R712W;ENSP00000303279:R784W	ENSP00000303279:R784W	R	+	1	2	IARS2	218380190	1.000000	0.71417	0.978000	0.43139	0.710000	0.40934	5.226000	0.65299	1.302000	0.44855	0.650000	0.86243	CGG	IARS2	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.318	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		134	0.00	0	C	NM_018060		220313567	220313567	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	missense	98	12.50	14	SNP	1.000	T
IARS2	55699	genome.wustl.edu	37	1	220315228	220315228	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:220315228C>A	ENST00000302637.5	+	20	2602	c.2498C>A	c.(2497-2499)tCt>tAt	p.S833Y	IARS2_ENST00000467924.1_3'UTR|IARS2_ENST00000366922.1_Missense_Mutation_p.S761Y	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	833					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATAGTTCGTTCTTTTGCTCCC	0.373																																						dbGAP											0													210.0	202.0	205.0					1																	220315228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2498C>A	1.37:g.220315228C>A	ENSP00000303279:p.Ser833Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.S833Y	ENST00000302637.5	37	c.2498	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.986314	0.97173	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.13657	2.57;2.57	5.43	5.43	0.79202	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.111909	0.64402	D	0.000006	T	0.31888	0.0811	L	0.43554	1.36	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.01084	-1.1457	10	0.72032	D	0.01	-14.0457	19.6188	0.95647	0.0:1.0:0.0:0.0	.	833	Q9NSE4	SYIM_HUMAN	Y	761;833	ENSP00000355889:S761Y;ENSP00000303279:S833Y	ENSP00000303279:S833Y	S	+	2	0	IARS2	218381851	1.000000	0.71417	0.010000	0.14722	0.956000	0.61745	7.776000	0.85560	2.699000	0.92147	0.650000	0.86243	TCT	IARS2	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.373	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		327	0.00	0	C	NM_018060		220315228	220315228	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	missense	230	11.20	29	SNP	0.840	A
IBSP	3381	genome.wustl.edu	37	4	88723675	88723675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:88723675C>T	ENST00000226284.5	+	3	137	c.70C>T	c.(70-72)Cga>Tga	p.R24*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	24					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAATTTGCATCGAAGAGTCAA	0.269																																						dbGAP											0													46.0	49.0	48.0					4																	88723675		2201	4293	6494	-	-	-	SO:0001587	stop_gained	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.70C>T	4.37:g.88723675C>T	ENSP00000226284:p.Arg24*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_BSP_II	p.R24*	ENST00000226284.5	37	c.70	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.326247	0.95708	.	.	ENSG00000029559	ENST00000226284	.	.	.	5.22	3.43	0.39272	.	0.111967	0.39985	N	0.001215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0634	0.47961	0.3238:0.6762:0.0:0.0	.	.	.	.	X	24	.	ENSP00000226284:R24X	R	+	1	2	IBSP	88942699	0.492000	0.26027	0.692000	0.30179	0.998000	0.95712	0.289000	0.18957	0.645000	0.30675	0.591000	0.81541	CGA	IBSP	-	pfam_BSP_II	ENSG00000029559		0.269	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	141	0.00	0	C			88723675	88723675	+1	no_errors	ENST00000226284	ensembl	human	known	69_37n	nonsense	84	13.27	13	SNP	0.873	T
IBTK	25998	genome.wustl.edu	37	6	82943948	82943948	+	Missense_Mutation	SNP	C	C	A	rs144335877		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:82943948C>A	ENST00000306270.7	-	3	895	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	IBTK_ENST00000503631.1_Missense_Mutation_p.D116Y|IBTK_ENST00000510291.1_Missense_Mutation_p.D116Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	116					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCTTCTTTATCTTGAATATAC	0.303																																						dbGAP											0													84.0	87.0	86.0					6																	82943948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.346G>T	6.37:g.82943948C>A	ENSP00000305721:p.Asp116Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.D116Y	ENST00000306270.7	37	c.346	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536759	0.85812	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.60672	0.17;0.17;0.17	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	H	0.94345	3.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86553	0.1836	10	0.87932	D	0	-22.3998	19.4336	0.94781	0.0:1.0:0.0:0.0	.	116;116;116;116	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	Y	116	ENSP00000305721:D116Y;ENSP00000422762:D116Y;ENSP00000426405:D116Y	ENSP00000305721:D116Y	D	-	1	0	IBTK	83000667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	2.596000	0.87737	0.579000	0.79373	GAT	IBTK	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000005700		0.303	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	85	0.00	0	C	NM_015525		82943948	82943948	-1	no_errors	ENST00000306270	ensembl	human	known	69_37n	missense	74	30.19	32	SNP	1.000	A
ICA1	3382	genome.wustl.edu	37	7	8272372	8272372	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:8272372C>T	ENST00000402384.3	-	3	297	c.31G>A	c.(31-33)Gac>Aac	p.D11N	ICA1_ENST00000406470.2_Missense_Mutation_p.D11N|ICA1_ENST00000396675.3_Missense_Mutation_p.D11N|ICA1_ENST00000407906.1_Missense_Mutation_p.D11N|ICA1_ENST00000422063.2_Missense_Mutation_p.D11N|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000265577.7_Missense_Mutation_p.D10N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	11					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCCTGTAAGTCCCAGGGATAA	0.328																																						dbGAP											0													136.0	124.0	128.0					7																	8272372		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.31G>A	7.37:g.8272372C>T	ENSP00000385570:p.Asp11Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.D11N	ENST00000402384.3	37	c.31	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534249	0.85812	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000422063;ENST00000407906;ENST00000447326;ENST00000430867;ENST00000446305	.	.	.	5.75	5.75	0.90469	.	0.279648	0.38897	N	0.001526	T	0.38241	0.1033	N	0.11064	0.09	0.54753	D	0.99998	B;P;B;B	0.40144	0.014;0.704;0.053;0.051	B;B;B;B	0.38378	0.012;0.272;0.019;0.019	T	0.25882	-1.0119	9	0.33141	T	0.24	-11.1508	19.9498	0.97195	0.0:1.0:0.0:0.0	.	11;11;10;11	B3FTQ2;E7ENI6;Q96HG3;Q05084	.;.;.;ICA69_HUMAN	N	11;11;10;11;11;11;11;10;10	.	ENSP00000265577:D10N	D	-	1	0	ICA1	8238897	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.407000	0.80029	2.715000	0.92844	0.650000	0.86243	GAC	ICA1	-	NULL	ENSG00000003147		0.328	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	515	0.00	0	C	NM_004968		8272372	8272372	-1	no_errors	ENST00000422063	ensembl	human	known	69_37n	missense	452	11.18	57	SNP	1.000	T
ICK	22858	genome.wustl.edu	37	6	52878617	52878617	+	Missense_Mutation	SNP	C	C	T	rs561765544		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:52878617C>T	ENST00000350082.5	-	9	1341	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	ICK_ENST00000356971.3_Missense_Mutation_p.R332Q	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	332					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGAAGAAATTCGTGTGTGTGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													152.0	129.0	137.0					6																	52878617		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.995G>A	6.37:g.52878617C>T	ENSP00000263043:p.Arg332Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R332Q	ENST00000350082.5	37	c.995	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302937	0.23736	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.71579	-0.58;-0.58	6.06	5.17	0.71159	.	0.347798	0.27327	N	0.019865	T	0.31104	0.0786	N	0.08118	0	0.09310	N	0.999995	B	0.23185	0.081	B	0.12156	0.007	T	0.10730	-1.0617	10	0.20519	T	0.43	-10.7664	16.3226	0.82956	0.1369:0.8631:0.0:0.0	.	332	Q9UPZ9	ICK_HUMAN	Q	332	ENSP00000263043:R332Q;ENSP00000349458:R332Q	ENSP00000263043:R332Q	R	-	2	0	ICK	52986576	0.808000	0.29022	0.229000	0.23960	0.327000	0.28475	1.750000	0.38329	1.513000	0.48852	0.655000	0.94253	CGA	ICK	-	NULL	ENSG00000112144		0.547	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	855	0.00	0	C	NM_016513		52878617	52878617	-1	no_errors	ENST00000350082	ensembl	human	known	69_37n	missense	635	12.64	92	SNP	0.211	T
ICOS	29851	genome.wustl.edu	37	2	204820475	204820475	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:204820475G>A	ENST00000316386.6	+	2	242	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	ICOS_ENST00000435193.1_Missense_Mutation_p.G59R	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	59	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6						GCTGAAAGGGGGGCAAATACT	0.383																																						dbGAP											0													121.0	118.0	119.0					2																	204820475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.175G>A	2.37:g.204820475G>A	ENSP00000319476:p.Gly59Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W8	Missense_Mutation	SNP	NULL	p.G59R	ENST00000316386.6	37	c.175	CCDS2363.1	2	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036590	0.02013	.	.	ENSG00000163600	ENST00000316386;ENST00000435193	T;T	0.41065	1.01;1.01	5.26	-8.41	0.00961	Immunoglobulin-like fold (1);	3.434820	0.00550	N	0.000240	T	0.11495	0.0280	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24941	-1.0146	10	0.11794	T	0.64	1.8343	8.9045	0.35515	0.3343:0.0:0.5589:0.1068	.	59;59;59	Q53QY6;Q9Y6W8-2;Q9Y6W8	.;.;ICOS_HUMAN	R	59	ENSP00000319476:G59R;ENSP00000415951:G59R	ENSP00000319476:G59R	G	+	1	0	ICOS	204528720	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.113000	0.10774	-1.855000	0.01162	-0.140000	0.14226	GGG	ICOS	-	NULL	ENSG00000163600		0.383	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICOS	HGNC	protein_coding	OTTHUMT00000256369.1	200	0.00	0	G	NM_012092		204820475	204820475	+1	no_errors	ENST00000316386	ensembl	human	known	69_37n	missense	179	11.39	23	SNP	0.000	A
ID1	3397	genome.wustl.edu	37	20	30193473	30193473	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:30193473C>T	ENST00000376112.3	+	1	388	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.L95F	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	95	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGTGGAGATTCTCCAGCACGT	0.612																																					NSCLC(123;1618 1779 21803 28680 33854)	dbGAP											0													43.0	43.0	43.0					20																	30193473		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.283C>T	20.37:g.30193473C>T	ENSP00000365280:p.Leu95Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L95F	ENST00000376112.3	37	c.283	CCDS13185.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740547	0.89573	.	.	ENSG00000125968	ENST00000376112;ENST00000376105	D;D	0.99826	-6.98;-6.98	4.97	4.97	0.65823	Helix-loop-helix DNA-binding (5);	0.076321	0.53938	D	0.000044	D	0.99904	0.9954	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96243	0.9177	10	0.87932	D	0	-18.4266	17.3358	0.87280	0.0:1.0:0.0:0.0	.	95;95	P41134-2;P41134	.;ID1_HUMAN	F	95	ENSP00000365280:L95F;ENSP00000365273:L95F	ENSP00000365273:L95F	L	+	1	0	ID1	29657134	0.998000	0.40836	0.978000	0.43139	0.874000	0.50279	2.542000	0.45744	2.735000	0.93741	0.655000	0.94253	CTC	ID1	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000125968		0.612	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID1	HGNC	protein_coding	OTTHUMT00000078550.1	100	0.00	0	C	NM_002165		30193473	30193473	+1	no_errors	ENST00000376112	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	T
IDO2	169355	genome.wustl.edu	37	8	39843168	39843168	+	Intron	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:39843168A>C	ENST00000389060.4	+	5	449				IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Intron			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AAATGCATAAAAAATATACTA	0.254																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.449+127A>C	8.37:g.39843168A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4UD41	RNA	SNP	-	NULL	ENST00000389060.4	37	NULL		8																																																																																			IDO2	-	-	ENSG00000188676		0.254	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	79	0.00	0	A	NM_194294		39843168	39843168	+1	no_errors	ENST00000343295	ensembl	human	known	69_37n	rna	50	25.00	17	SNP	0.460	C
IFI44	10561	genome.wustl.edu	37	1	79125147	79125147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:79125147C>T	ENST00000370747.4	+	6	1076	c.991C>T	c.(991-993)Cga>Tga	p.R331*	IFI44_ENST00000545124.1_Nonsense_Mutation_p.R48*|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	331				R -> Q (in Ref. 1; BAA06043). {ECO:0000305}.	response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						CAAAAGAATTCGAAGGGAGTT	0.398																																						dbGAP											0													84.0	78.0	80.0					1																	79125147		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.991C>T	1.37:g.79125147C>T	ENSP00000359783:p.Arg331*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAG3|D3DQ80|Q14496	Nonsense_Mutation	SNP	pfam_TLDc	p.R331*	ENST00000370747.4	37	c.991	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374938	0.42105	.	.	ENSG00000137965	ENST00000370747;ENST00000545124	.	.	.	3.81	0.717	0.18196	.	0.154695	0.43416	D	0.000573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1415	5.4551	0.16586	0.352:0.5484:0.0:0.0996	.	.	.	.	X	331;48	.	ENSP00000359783:R331X	R	+	1	2	IFI44	78897735	0.123000	0.22298	0.005000	0.12908	0.040000	0.13550	0.081000	0.14823	0.158000	0.19367	0.404000	0.27445	CGA	IFI44	-	NULL	ENSG00000137965		0.398	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	199	0.00	0	C	NM_006417		79125147	79125147	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	nonsense	98	22.05	28	SNP	0.216	T
IFIT3	3437	genome.wustl.edu	37	10	91099365	91099366	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:91099365_91099366CG>TA	ENST00000371818.4	+	2	1133_1134	c.953_954CG>TA	c.(952-954)tCG>tTA	p.S318L	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.S318L|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	318					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ATGGACTATTCGAATAAAGCTC	0.401																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	Exception_encountered	10.37:g.91099365_91099366delinsTA	ENSP00000360883:p.Ser318Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99634|Q9BSK7	Missense_Mutation|Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S318L|p.S318	ENST00000371818.4	37	c.953|c.954	CCDS7402.1	10																																																																																			IFIT3	-	NULL	ENSG00000119917		0.401	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT3	HGNC	protein_coding	OTTHUMT00000049294.1	119	0.00	0	C|G	NM_001549		91099365|91099366	91099365|91099366	+1	no_errors	ENST00000371811	ensembl	human	known	69_37n	missense|silent	95|93	13.64|14.68	15|16	SNP	0.017|0.000	T|A
IFNGR1	3459	genome.wustl.edu	37	6	137524672	137524672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:137524672C>A	ENST00000367739.4	-	5	818	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.E205*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	233					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ATACAAACTTCTTTTGACTTT	0.368																																						dbGAP											0													104.0	90.0	95.0					6																	137524672		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.697G>T	6.37:g.137524672C>A	ENSP00000356713:p.Glu233*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.E233*	ENST00000367739.4	37	c.697	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005569	0.93287	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076	.	.	.	5.63	4.76	0.60689	.	0.568094	0.19456	N	0.113808	.	.	.	.	.	.	0.48341	D	0.99963	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-19.1047	9.4917	0.38965	0.0:0.9073:0.0:0.0927	.	.	.	.	X	233;233;205;199	.	ENSP00000356713:E233X	E	-	1	0	IFNGR1	137566365	0.467000	0.25831	0.192000	0.23308	0.864000	0.49448	1.649000	0.37281	2.652000	0.90054	0.655000	0.94253	GAA	IFNGR1	-	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000027697		0.368	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	142	0.00	0	C			137524672	137524672	-1	no_errors	ENST00000367739	ensembl	human	known	69_37n	nonsense	121	23.90	38	SNP	0.271	A
IFNGR1	3459	genome.wustl.edu	37	6	137525481	137525481	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:137525481C>A	ENST00000367739.4	-	4	655	c.534G>T	c.(532-534)atG>atT	p.M178I	IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000367735.2_Missense_Mutation_p.M168I|IFNGR1_ENST00000543628.1_Missense_Mutation_p.M150I	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	178					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CACTTCCGTTCATTCTCACAT	0.368																																						dbGAP											0													157.0	142.0	147.0					6																	137525481		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.534G>T	6.37:g.137525481C>A	ENSP00000356713:p.Met178Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.M178I	ENST00000367739.4	37	c.534	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	C	7.343	0.621217	0.14193	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.51	-1.85	0.07784	Interferon gamma receptor, poxvirus/mammal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.591440	0.03817	N	0.266931	T	0.01765	0.0056	N	0.00289	-1.7	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.21690	-1.0238	10	0.02654	T	1	-0.0231	0.5481	0.00657	0.3806:0.1332:0.2659:0.2203	.	168;150;178	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	I	178;178;150;144;168	ENSP00000356713:M178I;ENSP00000443282:M150I;ENSP00000389249:M144I;ENSP00000356709:M168I	ENSP00000356709:M168I	M	-	3	0	IFNGR1	137567174	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.550000	0.06034	-0.380000	0.07894	0.655000	0.94253	ATG	IFNGR1	-	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000027697		0.368	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	158	0.00	0	C			137525481	137525481	-1	no_errors	ENST00000367739	ensembl	human	known	69_37n	missense	148	12.43	21	SNP	0.000	A
IFRD1	3475	genome.wustl.edu	37	7	112096972	112096972	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:112096972G>A	ENST00000403825.3	+	4	549	c.288G>A	c.(286-288)gcG>gcA	p.A96A	IFRD1_ENST00000429071.1_Silent_p.A96A|IFRD1_ENST00000005558.4_Silent_p.A96A|IFRD1_ENST00000535603.1_Silent_p.A46A	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	96					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TAAATAGTGCGAAGACAAGGC	0.323																																						dbGAP											0													92.0	91.0	92.0					7																	112096972		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.288G>A	7.37:g.112096972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5G1|O75234|Q5U013|Q9BVE4	Silent	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.A96	ENST00000403825.3	37	c.288	CCDS34736.1	7																																																																																			IFRD1	-	pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold	ENSG00000006652		0.323	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFRD1	HGNC	protein_coding	OTTHUMT00000338700.1	216	0.00	0	G	NM_001550		112096972	112096972	+1	no_errors	ENST00000005558	ensembl	human	known	69_37n	silent	90	27.42	34	SNP	0.360	A
IFRD1	3475	genome.wustl.edu	37	7	112115563	112115563	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:112115563G>A	ENST00000403825.3	+	12	1606	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	IFRD1_ENST00000005558.4_Missense_Mutation_p.E449K|IFRD1_ENST00000535603.1_Missense_Mutation_p.E399K	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	449					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AGATGTTGGAGAATTCTTCTA	0.303																																						dbGAP											0													54.0	55.0	55.0					7																	112115563		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1345G>A	7.37:g.112115563G>A	ENSP00000384477:p.Glu449Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.E449K	ENST00000403825.3	37	c.1345	CCDS34736.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.094576	0.94149	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000535603	T;T;T	0.49432	0.78;0.78;0.81	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	L	0.36672	1.1	0.80722	D	1	P;P	0.38020	0.615;0.615	B;B	0.33121	0.158;0.158	T	0.44742	-0.9308	10	0.87932	D	0	-27.8058	19.1888	0.93654	0.0:0.0:1.0:0.0	.	449;449	A4D0U1;O00458	.;IFRD1_HUMAN	K	449;449;399	ENSP00000005558:E449K;ENSP00000384477:E449K;ENSP00000439188:E399K	ENSP00000005558:E449K	E	+	1	0	IFRD1	111902799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.632000	0.90995	2.636000	0.89361	0.462000	0.41574	GAA	IFRD1	-	NULL	ENSG00000006652		0.303	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFRD1	HGNC	protein_coding	OTTHUMT00000338700.1	302	0.00	0	G	NM_001550		112115563	112115563	+1	no_errors	ENST00000005558	ensembl	human	known	69_37n	missense	187	14.22	31	SNP	1.000	A
IFT122	55764	genome.wustl.edu	37	3	129237961	129237961	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:129237961C>A	ENST00000348417.2	+	28	3480	c.3403C>A	c.(3403-3405)Ctg>Atg	p.L1135M	IFT122_ENST00000507564.1_Missense_Mutation_p.L1128M|IFT122_ENST00000296266.3_Missense_Mutation_p.L1186M|IFT122_ENST00000440957.2_Missense_Mutation_p.L926M|IFT122_ENST00000347300.2_Missense_Mutation_p.L1076M|IFT122_ENST00000431818.2_Missense_Mutation_p.L985M|IFT122_ENST00000349441.2_Missense_Mutation_p.L1025M|IFT122_ENST00000504021.1_Missense_Mutation_p.L1012M	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	1135					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTCCCAGATTCTGCGGCTAGT	0.572																																						dbGAP											0													118.0	121.0	120.0					3																	129237961		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3403C>A	3.37:g.129237961C>A	ENSP00000324005:p.Leu1135Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1186M	ENST00000348417.2	37	c.3556	CCDS3061.1	3	.	.	.	.	.	.	.	.	.	.	C	5.603	0.295970	0.10622	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	T;T;T;T;T;T;T;T	0.62232	0.7;0.04;0.18;0.24;0.85;0.84;0.69;0.26	5.82	3.69	0.42338	.	0.000000	0.64402	D	0.000001	T	0.61726	0.2370	L	0.46885	1.475	0.39966	D	0.974733	B;P;B;P;B;P;B;B;B;P	0.42785	0.421;0.763;0.256;0.723;0.054;0.506;0.096;0.093;0.297;0.79	B;P;B;P;B;B;B;B;B;B	0.50378	0.177;0.639;0.055;0.474;0.1;0.196;0.142;0.145;0.086;0.177	T	0.63554	-0.6611	10	0.49607	T	0.09	-14.0123	8.0957	0.30826	0.1264:0.6671:0.0:0.2065	.	926;461;1128;523;1012;977;1025;1076;1135;1186	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	M	1076;1186;1128;985;1012;1025;1135;977;926	ENSP00000323973:L1076M;ENSP00000296266:L1186M;ENSP00000425536:L1128M;ENSP00000410946:L985M;ENSP00000422179:L1012M;ENSP00000324165:L1025M;ENSP00000324005:L1135M;ENSP00000401569:L926M	ENSP00000296266:L1186M	L	+	1	2	IFT122	130720651	0.184000	0.23200	0.879000	0.34478	0.067000	0.16453	0.579000	0.23788	1.439000	0.47511	0.655000	0.94253	CTG	IFT122	-	NULL	ENSG00000163913		0.572	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	48	0.00	0	C	NM_018262		129237961	129237961	+1	no_errors	ENST00000296266	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.305	A
IFT140	9742	genome.wustl.edu	37	16	1607968	1607968	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:1607968G>A	ENST00000426508.2	-	19	2730	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	789					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGAAGGCTTCGTCCATGTCTC	0.562																																						dbGAP											0													189.0	178.0	182.0					16																	1607968		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2367C>T	16.37:g.1607968G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D789	ENST00000426508.2	37	c.2367	CCDS10439.1	16																																																																																			IFT140	-	NULL	ENSG00000187535		0.562	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	82	0.00	0	G	NM_014714		1607968	1607968	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	0.498	A
IFT172	26160	genome.wustl.edu	37	2	27668692	27668692	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27668692G>A	ENST00000260570.3	-	45	4937	c.4834C>T	c.(4834-4836)Cta>Tta	p.L1612L	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1612					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGGCCATCTAGAGTCCCTTCC	0.547																																						dbGAP											0													130.0	127.0	128.0					2																	27668692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4834C>T	2.37:g.27668692G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.L1612	ENST00000260570.3	37	c.4834	CCDS1755.1	2																																																																																			IFT172	-	NULL	ENSG00000138002		0.547	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	258	0.00	0	G	NM_015662		27668692	27668692	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	silent	149	13.87	24	SNP	0.999	A
IFT172	26160	genome.wustl.edu	37	2	27699513	27699513	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27699513G>T	ENST00000260570.3	-	14	1509	c.1406C>A	c.(1405-1407)gCt>gAt	p.A469D	IFT172_ENST00000359466.6_Missense_Mutation_p.A469D|IFT172_ENST00000416524.2_Missense_Mutation_p.A448D|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	469					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTCACCTATAGCAATAGTCTT	0.358																																						dbGAP											0													82.0	87.0	85.0					2																	27699513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1406C>A	2.37:g.27699513G>T	ENSP00000260570:p.Ala469Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.A469D	ENST00000260570.3	37	c.1406	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806351	0.50421	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;D;D	0.96073	3.38;-3.9;-3.9	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.099330	0.64402	D	0.000002	D	0.93769	0.8008	M	0.63428	1.95	0.58432	D	0.999999	B;B;B;B	0.34103	0.294;0.21;0.437;0.035	B;B;B;B	0.28709	0.065;0.093;0.065;0.093	D	0.92396	0.5925	10	0.35671	T	0.21	-9.4529	18.5227	0.90959	0.0:0.0:1.0:0.0	.	469;469;443;469	A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;IF172_HUMAN	D	469;469;448	ENSP00000260570:A469D;ENSP00000352443:A469D;ENSP00000407408:A448D	ENSP00000260570:A469D	A	-	2	0	IFT172	27553017	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.198000	0.77823	2.715000	0.92844	0.557000	0.71058	GCT	IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.358	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	220	0.00	0	G	NM_015662		27699513	27699513	-1	no_errors	ENST00000260570	ensembl	human	known	69_37n	missense	150	10.71	18	SNP	1.000	T
IFT52	51098	genome.wustl.edu	37	20	42264644	42264644	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:42264644T>G	ENST00000373030.3	+	11	1132	c.1002T>G	c.(1000-1002)ctT>ctG	p.L334L	IFT52_ENST00000373039.4_Silent_p.L334L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	334					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGCCAACCCTTCAGCCTGCGG	0.537																																						dbGAP											0													82.0	76.0	78.0					20																	42264644		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1002T>G	20.37:g.42264644T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	pfam_ABC_transp_unknown	p.L334	ENST00000373030.3	37	c.1002	CCDS33470.1	20																																																																																			IFT52	-	NULL	ENSG00000101052		0.537	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	133	0.75	1	T	NM_016004		42264644	42264644	+1	no_errors	ENST00000373030	ensembl	human	known	69_37n	silent	116	12.12	16	SNP	0.989	G
IGF2BP2	10644	genome.wustl.edu	37	3	185404886	185404886	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:185404886C>A	ENST00000382199.2	-	7	866	c.771G>T	c.(769-771)atG>atT	p.M257I	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.M200I|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.M257I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.M263I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	257	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTTCAAGAATCATGCGGCATG	0.473																																						dbGAP											0													127.0	132.0	131.0					3																	185404886		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.771G>T	3.37:g.185404886C>A	ENSP00000371634:p.Met257Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.M257I	ENST00000382199.2	37	c.771	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828206	0.50845	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	T;T;T;T	0.41758	1.49;0.99;1.49;0.99	5.31	5.31	0.75309	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.077160	0.85682	D	0.000000	T	0.34919	0.0914	L	0.35723	1.085	0.58432	D	0.999998	B;B;B;B;B;B	0.14012	0.001;0.004;0.004;0.008;0.002;0.009	B;B;B;B;B;B	0.18263	0.004;0.008;0.008;0.012;0.012;0.021	T	0.08371	-1.0725	10	0.40728	T	0.16	-21.9945	13.8253	0.63346	0.0:0.8463:0.1537:0.0	.	194;194;200;263;257;257	Q9Y6M1-5;Q9Y6M1-3;Q9Y6M1-4;F8W930;Q9Y6M1-1;Q9Y6M1	.;.;.;.;.;IF2B2_HUMAN	I	257;200;263;257	ENSP00000371634:M257I;ENSP00000413787:M200I;ENSP00000410242:M263I;ENSP00000320204:M257I	ENSP00000320204:M257I	M	-	3	0	IGF2BP2	186887580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.967000	0.56802	2.653000	0.90120	0.655000	0.94253	ATG	IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000073792		0.473	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	253	0.00	0	C	NM_006548		185404886	185404886	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	missense	138	12.66	20	SNP	1.000	A
IGF2BP2	10644	genome.wustl.edu	37	3	185410497	185410497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:185410497C>A	ENST00000382199.2	-	5	489	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.E75*|IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.E132*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.E138*	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	132	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTTTTGCTTCTTCTCTTGTT	0.333																																						dbGAP											0													153.0	141.0	145.0					3																	185410497		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.394G>T	3.37:g.185410497C>A	ENSP00000371634:p.Glu132*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.E132*	ENST00000382199.2	37	c.394	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966505	0.74131	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	.	.	.	5.39	5.39	0.77823	.	0.103502	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.6191	13.6585	0.62352	0.0:0.8446:0.1554:0.0	.	.	.	.	X	132;75;138;132	.	ENSP00000320204:E132X	E	-	1	0	IGF2BP2	186893191	0.931000	0.31567	1.000000	0.80357	0.895000	0.52256	1.153000	0.31676	2.548000	0.85928	0.563000	0.77884	GAA	IGF2BP2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000073792		0.333	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	270	0.00	0	C	NM_006548		185410497	185410497	-1	no_errors	ENST00000382199	ensembl	human	known	69_37n	nonsense	188	10.48	22	SNP	1.000	A
IGF2BP3	10643	genome.wustl.edu	37	7	23391172	23391172	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:23391172C>T	ENST00000258729.3	-	6	791	c.435G>A	c.(433-435)gaG>gaA	p.E145E	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	145	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGGTGAAATTCTCTAACTGAA	0.507																																						dbGAP											0													40.0	44.0	43.0					7																	23391172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.435G>A	7.37:g.23391172C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.E145	ENST00000258729.3	37	c.435	CCDS5382.1	7																																																																																			IGF2BP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136231		0.507	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	72	0.00	0	C	NM_006547		23391172	23391172	-1	no_errors	ENST00000258729	ensembl	human	known	69_37n	silent	33	25.00	11	SNP	1.000	T
IGFL2	147920	genome.wustl.edu	37	19	46651547	46651547	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:46651547A>C	ENST00000377693.4	+	1	48	c.12A>C	c.(10-12)agA>agC	p.R4S	IGFL2_ENST00000434646.2_Intron|IGFL2_ENST00000600243.1_Intron|AC007193.6_ENST00000597989.1_lincRNA	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	4						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TGGTGCCCAGAATCTTCGGTA	0.458																																						dbGAP											0													157.0	142.0	147.0					19																	46651547		692	1591	2283	-	-	-	SO:0001583	missense	0			AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.12A>C	19.37:g.46651547A>C	ENSP00000366922:p.Arg4Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAV1|Q6B9Z3	Missense_Mutation	SNP	NULL	p.R4S	ENST00000377693.4	37	c.12	CCDS46121.1	19	.	.	.	.	.	.	.	.	.	.	A	2.400	-0.337730	0.05278	.	.	ENSG00000204866	ENST00000377693	T	0.27402	1.67	0.983	-1.64	0.08318	.	.	.	.	.	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	P	0.40282	0.711	B	0.27887	0.084	T	0.13980	-1.0489	9	0.66056	D	0.02	.	4.4063	0.11411	0.5006:0.0:0.4994:0.0	.	4	Q6UWQ7	IGFL2_HUMAN	S	4	ENSP00000366922:R4S	ENSP00000366922:R4S	R	+	3	2	IGFL2	51343387	0.081000	0.21417	0.006000	0.13384	0.018000	0.09664	0.133000	0.15912	-0.723000	0.04915	-0.526000	0.04340	AGA	IGFL2	-	NULL	ENSG00000204866		0.458	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGFL2	HGNC	protein_coding	OTTHUMT00000461705.1	550	0.00	0	A	NM_001002915		46651547	46651547	+1	no_errors	ENST00000377693	ensembl	human	known	69_37n	missense	461	11.35	59	SNP	0.009	C
IGFN1	91156	genome.wustl.edu	37	1	201182393	201182393	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:201182393C>A	ENST00000335211.4	+	12	8502	c.8372C>A	c.(8371-8373)cCt>cAt	p.P2791H	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCCAGGGTCCTGGGGCCCTA	0.642																																						dbGAP											0													49.0	56.0	54.0					1																	201182393		692	1591	2283	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8372C>A	1.37:g.201182393C>A	ENSP00000334714:p.Pro2791His	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P2791H	ENST00000335211.4	37	c.8372	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449732	0.12223	.	.	ENSG00000163395	ENST00000335211	T	0.53206	0.63	3.01	1.02	0.19986	.	.	.	.	.	T	0.25005	0.0607	N	0.08118	0	0.09310	N	0.999998	.	.	.	.	.	.	T	0.21861	-1.0233	7	0.87932	D	0	.	2.9918	0.05986	0.4519:0.3765:0.0:0.1715	.	.	.	.	H	2791	ENSP00000334714:P2791H	ENSP00000334714:P2791H	P	+	2	0	IGFN1	199449016	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.012000	0.12699	0.038000	0.15604	-0.325000	0.08501	CCT	IGFN1	-	NULL	ENSG00000163395		0.642	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		205	0.00	0	C	NM_178275		201182393	201182393	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	111	18.12	25	SNP	0.000	A
IGHV1-3	28473	genome.wustl.edu	37	14	106471382	106471382	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:106471382G>A	ENST00000390595.2	-	0	256									immunoglobulin heavy variable 1-3																		ACCATTGCCAGCGTTGCTCCA	0.547																																						dbGAP											0													143.0	131.0	135.0					14																	106471382		1962	4128	6090	-	-	-			0			X62109		14q32.33	2012-02-08			ENSG00000211935	ENSG00000211935		"""Immunoglobulins / IGH locus"""	5552	other	immunoglobulin gene							Standard	NG_001019		Approved	VI-3B			OTTHUMG00000152323		14.37:g.106471382G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A72V	ENST00000390595.2	37	c.215		14																																																																																			IGHV1-3	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211935		0.547	IGHV1-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV1-3	HGNC	IG_V_gene	OTTHUMT00000325885.1	211	0.00	0	G	NG_001019		106471382	106471382	-1	no_stop_codon	ENST00000390595	ensembl	human	known	69_37n	missense	138	19.77	34	SNP	0.001	A
IGHV3-30	28439	genome.wustl.edu	37	14	106791036	106791036	+	RNA	SNP	G	G	A	rs561864589	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:106791036G>A	ENST00000390613.2	-	0	399									immunoglobulin heavy variable 3-30																		CGTGTCCTCAGCTCTCAGGCT	0.512													N|||	4	0.000798722	0.0015	0.0014	5008	,	,		26308	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													276.0	335.0	315.0					14																	106791036		2099	4244	6343	-	-	-			0			M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791036G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A107V	ENST00000390613.2	37	c.320		14																																																																																			IGHV3-30	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211953		0.512	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-30	HGNC	IG_V_gene	OTTHUMT00000325163.1	337	0.00	0	G	NG_001019		106791036	106791036	-1	no_stop_codon	ENST00000390613	ensembl	human	known	69_37n	missense	296	14.94	52	SNP	0.002	A
IGHV3-49	28423	genome.wustl.edu	37	14	107013126	107013126	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:107013126G>A	ENST00000390625.2	-	0	248									immunoglobulin heavy variable 3-49																		GGAGCCTGGCGGAACCAGCTC	0.552																																						dbGAP											0													79.0	77.0	78.0					14																	107013126		1877	4102	5979	-	-	-			0			M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013126G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R57C	ENST00000390625.2	37	c.169		14																																																																																			IGHV3-49	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211965		0.552	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-49	HGNC	IG_V_gene	OTTHUMT00000324613.1	255	0.00	0	G	NG_001019		107013126	107013126	-1	no_stop_codon	ENST00000390625	ensembl	human	known	69_37n	missense	138	25.41	47	SNP	1.000	A
IGHV4-59	28392	genome.wustl.edu	37	14	107083380	107083380	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:107083380C>A	ENST00000455737.1	-	0	263									immunoglobulin heavy variable 4-59																		GTAGTTGGTGCTCCCACTGTA	0.547																																						dbGAP											0													54.0	56.0	55.0					14																	107083380		1809	4050	5859	-	-	-			0			L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083380C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S75I	ENST00000455737.1	37	c.224		14																																																																																			IGHV4-59	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000224373		0.547	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IGHV4-59	HGNC	IG_V_gene	OTTHUMT00000324620.1	199	0.00	0	C	NG_001019		107083380	107083380	-1	no_errors	ENST00000455737	ensembl	human	known	69_37n	missense	102	11.30	13	SNP	0.000	A
IGHV3-74	28408	genome.wustl.edu	37	14	107219102	107219102	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:107219102G>T	ENST00000424969.2	-	0	263									immunoglobulin heavy variable 3-74																		ATAGCAACAAGGAAAACCCAG	0.498																																						dbGAP											0													155.0	159.0	158.0					14																	107219102		1919	4145	6064	-	-	-			0			Z12353		14q32.33	2012-02-08			ENSG00000224650	ENSG00000224650		"""Immunoglobulins / IGH locus"""	5624	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151860		14.37:g.107219102G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L10I	ENST00000424969.2	37	c.28		14																																																																																			IGHV3-74	-	NULL	ENSG00000224650		0.498	IGHV3-74-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-74	HGNC	IG_V_gene	OTTHUMT00000324205.1	280	0.00	0	G	NG_001019		107219102	107219102	-1	no_stop_codon	ENST00000424969	ensembl	human	known	69_37n	missense	135	10.60	16	SNP	0.321	T
IGKV3-7	28915	genome.wustl.edu	37	2	89278482	89278482	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:89278482G>T	ENST00000390247.2	-	0	118									immunoglobulin kappa variable 3-7 (non-functional)																		AGGAGGAAGAGAAGCTGAGCT	0.537																																						dbGAP											0													77.0	83.0	81.0					2																	89278482		1837	4085	5922	-	-	-			0			X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278482G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L8I	ENST00000390247.2	37	c.22		2																																																																																			IGKV3-7	-	NULL	ENSG00000243063		0.537	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3-7	HGNC	IG_V_gene	OTTHUMT00000323360.1	928	0.00	0	G	NG_000834		89278482	89278482	-1	no_stop_codon	ENST00000390247	ensembl	human	known	69_37n	missense	665	26.76	243	SNP	0.546	T
IGKV1-8	28942	genome.wustl.edu	37	2	89292180	89292180	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:89292180G>T	ENST00000495489.1	-	0	145									immunoglobulin kappa variable 1-8																		TAGATGCAGAGAATGAGGATG	0.453																																						dbGAP											0													163.0	156.0	158.0					2																	89292180		1950	4158	6108	-	-	-			0			Z00014		2p11.2	2012-02-10			ENSG00000240671	ENSG00000240671		"""Immunoglobulins / IGK locus"""	5743	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV18, L9			OTTHUMG00000151634		2.37:g.89292180G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F31L	ENST00000495489.1	37	c.93		2																																																																																			IGKV1-8	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000240671		0.453	IGKV1-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1-8	HGNC	IG_V_gene	OTTHUMT00000323358.1	343	0.00	0	G	NG_000834		89292180	89292180	-1	no_stop_codon	ENST00000495489	ensembl	human	known	69_37n	missense	259	14.80	45	SNP	0.041	T
IGKV3D-20	28874	genome.wustl.edu	37	2	90078270	90078270	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:90078270G>T	ENST00000390270.2	+	0	404									immunoglobulin kappa variable 3D-20																		GGAGCCTGAAGATTTTGCAGT	0.488																																						dbGAP											0													31.0	29.0	30.0					2																	90078270		1812	4045	5857	-	-	-			0			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078270G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D103Y	ENST00000390270.2	37	c.307		2																																																																																			IGKV3D-20	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211625		0.488	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-20	HGNC	IG_V_gene	OTTHUMT00000323287.1	128	0.00	0	G	NG_000833		90078270	90078270	+1	no_stop_codon	ENST00000390270	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	1.000	T
IGLV10-54	28772	genome.wustl.edu	37	22	22569581	22569581	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:22569581C>T	ENST00000390287.2	+	0	286									immunoglobulin lambda variable 10-54																		GAAACACAGCCTCCCTGACCA	0.562																																						dbGAP											0													61.0	63.0	62.0					22																	22569581		2034	4188	6222	-	-	-			0			Z73676		22q11.2	2012-02-08			ENSG00000211642	ENSG00000211642		"""Immunoglobulins / IGL locus"""	5884	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150993		22.37:g.22569581C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A91	ENST00000390287.2	37	c.273		22																																																																																			IGLV10-54	-	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211642		0.562	IGLV10-54-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV10-54	HGNC	IG_V_gene	OTTHUMT00000320858.1	99	0.00	0	C	NG_000002		22569581	22569581	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390287	ensembl	human	known	69_37n	silent	58	10.77	7	SNP	0.064	T
IGSF1	3547	genome.wustl.edu	37	X	130407801	130407801	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:130407801C>A	ENST00000361420.3	-	20	4059	c.3980G>T	c.(3979-3981)aGa>aTa	p.R1327I	IGSF1_ENST00000370904.1_Missense_Mutation_p.R1318I|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1318I|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1332I|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1327					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CACAGAGATTCTCTGAGAGGT	0.473																																						dbGAP											0													186.0	182.0	183.0					X																	130407801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3980G>T	X.37:g.130407801C>A	ENSP00000355010:p.Arg1327Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R1332I	ENST00000361420.3	37	c.3995	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	C	2.151	-0.394457	0.04899	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00664	5.94;5.94;5.94;5.92	4.1	-0.0183	0.13965	.	1.212890	0.05971	N	0.642323	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B;B;B	0.22604	0.003;0.001;0.072	B;B;B	0.19391	0.025;0.001;0.023	T	0.46952	-0.9154	10	0.51188	T	0.08	.	2.9775	0.05942	0.1956:0.4315:0.0:0.3729	.	1318;771;1327	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	I	1318;1327;1318;1332	ENSP00000359947:R1318I;ENSP00000355010:R1327I;ENSP00000359941:R1318I;ENSP00000359940:R1332I	ENSP00000355010:R1327I	R	-	2	0	IGSF1	130235482	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.163000	0.09997	-0.136000	0.11475	0.544000	0.68410	AGA	IGSF1	-	NULL	ENSG00000147255		0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	870	0.11	1	C			130407801	130407801	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	481	10.59	57	SNP	0.000	A
IGSF1	3547	genome.wustl.edu	37	X	130410079	130410079	+	Missense_Mutation	SNP	G	G	A	rs201712796		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:130410079G>A	ENST00000361420.3	-	15	2831	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W	IGSF1_ENST00000370904.1_Missense_Mutation_p.R909W|IGSF1_ENST00000370910.1_Missense_Mutation_p.R909W|IGSF1_ENST00000370903.3_Missense_Mutation_p.R923W|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	918	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGACACTCCGAAACTGTAAG	0.527																																						dbGAP											0													93.0	75.0	81.0					X																	130410079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2752C>T	X.37:g.130410079G>A	ENSP00000355010:p.Arg918Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R923W	ENST00000361420.3	37	c.2767	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146083	0.21288	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00801	5.68;5.68;5.68;5.68	5.38	5.38	0.77491	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.592060	0.01011	N	0.003836	T	0.03136	0.0092	L	0.45137	1.4	0.19945	N	0.999943	D;P;D	0.61080	0.989;0.913;0.964	P;B;P	0.52514	0.701;0.438;0.536	T	0.54536	-0.8279	10	0.49607	T	0.09	.	13.751	0.62908	0.0:0.0:1.0:0.0	.	909;362;918	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	W	909;918;909;923	ENSP00000359947:R909W;ENSP00000355010:R918W;ENSP00000359941:R909W;ENSP00000359940:R923W	ENSP00000355010:R918W	R	-	1	2	IGSF1	130237760	1.000000	0.71417	0.983000	0.44433	0.061000	0.15899	1.657000	0.37366	2.405000	0.81733	0.600000	0.82982	CGG	IGSF1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147255		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	258	0.39	1	G			130410079	130410079	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	167	15.58	31	SNP	0.974	A
IGSF1	3547	genome.wustl.edu	37	X	130416513	130416513	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:130416513T>C	ENST00000361420.3	-	7	1230	c.1151A>G	c.(1150-1152)tAc>tGc	p.Y384C	IGSF1_ENST00000370904.1_Missense_Mutation_p.Y375C|IGSF1_ENST00000370910.1_Missense_Mutation_p.Y375C|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y384C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	384	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTATCACTGTAGGTTACATT	0.443																																						dbGAP											0													168.0	132.0	144.0					X																	130416513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1151A>G	X.37:g.130416513T>C	ENSP00000355010:p.Tyr384Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y384C	ENST00000361420.3	37	c.1151	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	T	6.223	0.409267	0.11812	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.68	0.418	0.16429	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.857060	0.02518	N	0.092182	T	0.16214	0.0390	L	0.36672	1.1	0.09310	N	1	P;P	0.43885	0.82;0.69	P;P	0.47786	0.518;0.557	T	0.12967	-1.0527	10	0.39692	T	0.17	.	3.9767	0.09478	0.3815:0.0:0.1936:0.4249	.	375;384	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	C	375;384;375;384	ENSP00000359947:Y375C;ENSP00000355010:Y384C;ENSP00000359941:Y375C;ENSP00000359940:Y384C	ENSP00000355010:Y384C	Y	-	2	0	IGSF1	130244194	0.179000	0.23135	0.307000	0.25127	0.081000	0.17604	0.082000	0.14847	0.196000	0.20367	0.481000	0.45027	TAC	IGSF1	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000147255		0.443	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	184	0.00	0	T			130416513	130416513	-1	no_errors	ENST00000370903	ensembl	human	known	69_37n	missense	151	26.34	54	SNP	0.032	C
IGSF10	285313	genome.wustl.edu	37	3	151165197	151165197	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:151165197C>A	ENST00000282466.3	-	4	2571	c.2572G>T	c.(2572-2574)Gat>Tat	p.D858Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	858					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTTTGAAATCTGTGGGTTCT	0.373																																						dbGAP											0													208.0	219.0	215.0					3																	151165197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2572G>T	3.37:g.151165197C>A	ENSP00000282466:p.Asp858Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D858Y	ENST00000282466.3	37	c.2572	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448763	0.43531	.	.	ENSG00000152580	ENST00000282466	T	0.70399	-0.48	5.07	1.8	0.24995	.	0.912224	0.09140	N	0.843086	T	0.65417	0.2689	L	0.50333	1.59	0.09310	N	1	D	0.56521	0.976	P	0.44732	0.459	T	0.55623	-0.8112	10	0.72032	D	0.01	.	6.8298	0.23902	0.0:0.5662:0.0:0.4338	.	858	Q6WRI0	IGS10_HUMAN	Y	858	ENSP00000282466:D858Y	ENSP00000282466:D858Y	D	-	1	0	IGSF10	152647887	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.716000	0.04991	0.541000	0.28827	0.585000	0.79938	GAT	IGSF10	-	NULL	ENSG00000152580		0.373	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	175	0.00	0	C	NM_178822		151165197	151165197	-1	no_errors	ENST00000282466	ensembl	human	known	69_37n	missense	134	16.56	27	SNP	0.000	A
IGSF22	283284	genome.wustl.edu	37	11	18735828	18735828	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18735828G>A	ENST00000513874.1	-	13	1933	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	598										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCATACCTGCGATGAATACAG	0.572																																						dbGAP											0													57.0	58.0	58.0					11																	18735828		2023	4196	6219	-	-	-	SO:0001819	synonymous_variant	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1794C>T	11.37:g.18735828G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNA0|D6RGV7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I598	ENST00000513874.1	37	c.1794	CCDS41625.2	11																																																																																			IGSF22	-	smart_Ig_sub	ENSG00000179057		0.572	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	71	0.00	0	G	NM_173588		18735828	18735828	-1	no_errors	ENST00000513874	ensembl	human	known	69_37n	silent	68	12.66	10	SNP	0.352	A
IGSF5	150084	genome.wustl.edu	37	21	41143007	41143007	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:41143007G>A	ENST00000380588.4	+	4	686	c.583G>A	c.(583-585)Gac>Aac	p.D195N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	195	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				GGAGCCCAGCGACCTTCAAAG	0.562																																						dbGAP											0													77.0	73.0	74.0					21																	41143007		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.583G>A	21.37:g.41143007G>A	ENSP00000369962:p.Asp195Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.D195N	ENST00000380588.4	37	c.583	CCDS33562.1	21	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125510	0.56721	.	.	ENSG00000183067	ENST00000380588	T	0.08896	3.04	4.95	2.0	0.26442	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.514704	0.23149	N	0.051376	T	0.04770	0.0129	L	0.34521	1.04	0.09310	N	1	P	0.38565	0.637	B	0.28385	0.089	T	0.42085	-0.9472	10	0.22706	T	0.39	-10.2709	8.0265	0.30440	0.3765:0.0:0.6235:0.0	.	195	Q9NSI5	IGSF5_HUMAN	N	195	ENSP00000369962:D195N	ENSP00000369962:D195N	D	+	1	0	IGSF5	40064877	0.004000	0.15560	0.000000	0.03702	0.936000	0.57629	0.235000	0.17948	0.288000	0.22398	0.650000	0.86243	GAC	IGSF5	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000183067		0.562	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IGSF5	HGNC	protein_coding	OTTHUMT00000195005.1	174	0.00	0	G			41143007	41143007	+1	no_errors	ENST00000380588	ensembl	human	novel	69_37n	missense	109	13.18	17	SNP	0.000	A
IGSF9	57549	genome.wustl.edu	37	1	159898376	159898376	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:159898376C>A	ENST00000368094.1	-	19	2999	c.2802G>T	c.(2800-2802)gaG>gaT	p.E934D	IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.E918D	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	934	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACATTCATCTCTCGGAAGA	0.632																																						dbGAP											0													18.0	19.0	19.0					1																	159898376		2202	4292	6494	-	-	-	SO:0001583	missense	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2802G>T	1.37:g.159898376C>A	ENSP00000357073:p.Glu934Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E934D	ENST00000368094.1	37	c.2802	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412562	0.62511	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.73897	-0.79;-0.71	4.63	3.72	0.42706	.	0.000000	0.38605	N	0.001637	T	0.64305	0.2586	L	0.27053	0.805	0.26856	N	0.968069	D;D	0.64830	0.994;0.993	D;D	0.70716	0.97;0.967	T	0.58803	-0.7572	9	.	.	.	-20.548	10.2958	0.43623	0.0:0.9032:0.0:0.0968	.	934;472	Q9P2J2;C9JI81	TUTLA_HUMAN;.	D	918;934;472	ENSP00000355049:E918D;ENSP00000357073:E934D	.	E	-	3	2	IGSF9	158165000	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.332000	0.43903	1.154000	0.42482	0.655000	0.94253	GAG	IGSF9	-	NULL	ENSG00000085552		0.632	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	164	0.00	0	C	NM_020789		159898376	159898376	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	1.000	A
IGSF9	57549	genome.wustl.edu	37	1	159901700	159901700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:159901700C>A	ENST00000368094.1	-	11	1461	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Nonsense_Mutation_p.E406*	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	422	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGGGCCGCTCTATAAAAGCT	0.577																																						dbGAP											0													48.0	56.0	53.0					1																	159901700		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1264G>T	1.37:g.159901700C>A	ENSP00000357073:p.Glu422*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E422*	ENST00000368094.1	37	c.1264	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.625718	0.98396	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	.	.	.	4.21	4.21	0.49690	.	0.230539	0.21922	U	0.067146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.1041	14.0812	0.64922	0.0:1.0:0.0:0.0	.	.	.	.	X	406;422;422	.	.	E	-	1	0	IGSF9	158168324	0.925000	0.31364	1.000000	0.80357	0.568000	0.35870	2.185000	0.42584	1.893000	0.54813	0.561000	0.74099	GAG	IGSF9	-	pfscan_Ig-like	ENSG00000085552		0.577	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	260	0.00	0	C	NM_020789		159901700	159901700	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	nonsense	126	26.74	46	SNP	0.939	A
IKBKAP	8518	genome.wustl.edu	37	9	111637189	111637189	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:111637189G>A	ENST00000374647.5	-	36	4224	c.3917C>T	c.(3916-3918)tCg>tTg	p.S1306L	IKBKAP_ENST00000537196.1_Missense_Mutation_p.S957L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1306					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACAGGAACCGAAGTCTTCTG	0.348																																						dbGAP											0													136.0	140.0	139.0					9																	111637189		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3917C>T	9.37:g.111637189G>A	ENSP00000363779:p.Ser1306Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.S1306L	ENST00000374647.5	37	c.3917	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496304	0.26861	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.27720	2.04;1.65	5.98	2.09	0.27110	.	0.673668	0.14987	N	0.286882	T	0.21347	0.0514	L	0.48362	1.52	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.34004	-0.9846	10	0.11182	T	0.66	0.5409	6.4563	0.21932	0.2259:0.1368:0.6373:0.0	.	1306	O95163	ELP1_HUMAN	L	1306;957	ENSP00000363779:S1306L;ENSP00000439367:S957L	ENSP00000363779:S1306L	S	-	2	0	IKBKAP	110677010	0.015000	0.18098	0.003000	0.11579	0.627000	0.37826	1.026000	0.30103	0.126000	0.18424	-0.136000	0.14681	TCG	IKBKAP	-	pirsf_IKI3	ENSG00000070061		0.348	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	183	0.00	0	G			111637189	111637189	-1	no_errors	ENST00000374647	ensembl	human	known	69_37n	missense	110	30.82	49	SNP	0.073	A
IKZF5	64376	genome.wustl.edu	37	10	124753576	124753576	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:124753576A>G	ENST00000368886.5	-	5	1300	c.980T>C	c.(979-981)gTg>gCg	p.V327A	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGGACCTGCCACTGGACTATA	0.582																																						dbGAP											0													92.0	97.0	95.0					10																	124753576		2070	4206	6276	-	-	-	SO:0001583	missense	0			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.980T>C	10.37:g.124753576A>G	ENSP00000357881:p.Val327Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V327A	ENST00000368886.5	37	c.980	CCDS41574.1	10	.	.	.	.	.	.	.	.	.	.	A	10.36	1.328247	0.24080	.	.	ENSG00000095574	ENST00000368886	T	0.04862	3.54	6.03	6.03	0.97812	.	0.161486	0.53938	D	0.000044	T	0.04679	0.0127	N	0.14661	0.345	0.43667	D	0.996097	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	10	0.09084	T	0.74	-12.1721	16.5582	0.84512	1.0:0.0:0.0:0.0	.	327	Q9H5V7	IKZF5_HUMAN	A	327	ENSP00000357881:V327A	ENSP00000357881:V327A	V	-	2	0	IKZF5	124743566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.326000	0.59241	2.308000	0.77769	0.533000	0.62120	GTG	IKZF5	-	NULL	ENSG00000095574		0.582	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	169	0.00	0	A	NM_022466		124753576	124753576	-1	no_errors	ENST00000368886	ensembl	human	known	69_37n	missense	105	24.46	34	SNP	1.000	G
IL12RB1	3594	genome.wustl.edu	37	19	18172994	18172994	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:18172994T>A	ENST00000600835.2	-	15	2010	c.1712A>T	c.(1711-1713)aAc>aTc	p.N571I	IL12RB1_ENST00000593993.2_Missense_Mutation_p.N571I			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	571					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAGTTACCTGTTCAGGCCAAG	0.552																																						dbGAP											0													71.0	73.0	72.0					19																	18172994		2005	4177	6182	-	-	-	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1712A>T	19.37:g.18172994T>A	ENSP00000470788:p.Asn571Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.N571I	ENST00000600835.2	37	c.1712	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	T	12.81	2.049044	0.36181	.	.	ENSG00000096996	ENST00000430026	T	0.77098	-1.07	2.49	-0.795	0.10915	.	0.297709	0.23826	N	0.044187	T	0.76385	0.3980	L	0.56769	1.78	0.80722	D	1	D;P	0.53151	0.958;0.93	P;P	0.54312	0.748;0.564	T	0.70981	-0.4724	10	0.46703	T	0.11	.	5.633	0.17522	0.0:0.4624:0.0:0.5376	.	571;571	P42701-2;P42701	.;I12R1_HUMAN	I	571	ENSP00000403103:N571I	ENSP00000403103:N571I	N	-	2	0	IL12RB1	18033994	0.925000	0.31364	0.987000	0.45799	0.559000	0.35586	-0.652000	0.05366	-0.265000	0.09352	0.260000	0.18958	AAC	IL12RB1	-	NULL	ENSG00000096996		0.552	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	307	0.00	0	T			18172994	18172994	-1	no_errors	ENST00000430026	ensembl	human	known	69_37n	missense	137	16.27	27	SNP	0.988	A
IL1R1	3554	genome.wustl.edu	37	2	102793213	102793213	+	Silent	SNP	C	C	T	rs200300972		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:102793213C>T	ENST00000410023.1	+	12	2022	c.1704C>T	c.(1702-1704)ctC>ctT	p.L568L	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Silent_p.L568L|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Silent_p.L537L			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	568					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACGTGCCTCTCGGGTAGCATG	0.522																																						dbGAP											0													78.0	79.0	79.0					2																	102793213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1704C>T	2.37:g.102793213C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q587I7	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,pfscan_TIR_dom,pfscan_Ig-like	p.L568	ENST00000410023.1	37	c.1704	CCDS2055.1	2																																																																																			IL1R1	-	prints_IL1R_rcpt	ENSG00000115594		0.522	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	HGNC	protein_coding	OTTHUMT00000253299.1	180	0.00	0	C			102793213	102793213	+1	no_errors	ENST00000233946	ensembl	human	known	69_37n	silent	114	32.54	55	SNP	0.000	T
IL18R1	8809	genome.wustl.edu	37	2	102992398	102992398	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:102992398A>C	ENST00000409599.1	+	6	856	c.500A>C	c.(499-501)aAa>aCa	p.K167T	IL18R1_ENST00000233957.1_Missense_Mutation_p.K167T			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	167	Ig-like C2-type 2.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAGAACAATAAAAACCCAACG	0.313																																						dbGAP											0													51.0	52.0	51.0					2																	102992398		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.500A>C	2.37:g.102992398A>C	ENSP00000387211:p.Lys167Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Y5|Q52LC9	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.K167T	ENST00000409599.1	37	c.500	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	A	1.120	-0.655464	0.03480	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.10477	2.87;2.87;2.87	3.8	-7.22	0.01485	.	2.465900	0.01805	N	0.033156	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.35500	-0.9786	10	0.17369	T	0.5	.	7.1679	0.25702	0.2023:0.3434:0.4542:0.0	.	167;167	B7ZKV7;Q13478	.;IL18R_HUMAN	T	167	ENSP00000386663:K167T;ENSP00000387211:K167T;ENSP00000233957:K167T	ENSP00000233957:K167T	K	+	2	0	IL18R1	102358830	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.426000	0.02443	-0.941000	0.03700	-0.609000	0.04063	AAA	IL18R1	-	smart_Ig_sub	ENSG00000115604		0.313	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	HGNC	protein_coding	OTTHUMT00000253294.2	218	0.00	0	A	NM_003855		102992398	102992398	+1	no_errors	ENST00000233957	ensembl	human	known	69_37n	missense	166	26.22	59	SNP	0.000	C
IL1RAP	3556	genome.wustl.edu	37	3	190347193	190347193	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:190347193G>T	ENST00000412504.2	+	8	1209	c.957G>T	c.(955-957)aaG>aaT	p.K319N	IL1RAP_ENST00000439062.1_Missense_Mutation_p.K319N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.K178N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.K319N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.K319N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.K319N|IL1RAP_ENST00000422940.1_Missense_Mutation_p.K319N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.K319N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.K319N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	319	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGAGCATCAAGAAAGTTACCT	0.403																																						dbGAP											0													70.0	65.0	67.0					3																	190347193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.957G>T	3.37:g.190347193G>T	ENSP00000412053:p.Lys319Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.K319N	ENST00000412504.2	37	c.957	CCDS3298.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.57|15.57	2.873444|2.873444	0.51695|0.51695	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757|ENST00000412080	T;T;T;T;T;T;T;T;T|.	0.13538|.	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58|.	5.7|5.7	2.45|2.45	0.29901|0.29901	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.342884|.	0.32028|.	N|.	0.006687|.	T|T	0.58409|0.58409	0.2120|0.2120	M|M	0.62723|0.62723	1.935|1.935	0.39671|0.39671	D|D	0.970755|0.970755	D;P;P;P|.	0.67145|.	0.996;0.82;0.54;0.923|.	P;B;B;P|.	0.61874|.	0.895;0.222;0.108;0.556|.	T|T	0.55585|0.55585	-0.8118|-0.8118	10|5	0.17369|.	T|.	0.5|.	.|.	5.7005|5.7005	0.17879|0.17879	0.4738:0.0:0.5262:0.0|0.4738:0.0:0.5262:0.0	.|.	178;319;319;319|.	C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2|.	.;.;IL1AP_HUMAN;.|.	N|I	319;319;319;319;319;319;178;319;319|156	ENSP00000072516:K319N;ENSP00000408893:K319N;ENSP00000412053:K319N;ENSP00000401132:K319N;ENSP00000390541:K319N;ENSP00000409352:K319N;ENSP00000391899:K178N;ENSP00000387371:K319N;ENSP00000314807:K319N|.	ENSP00000072516:K319N|.	K|R	+|+	3|2	2|0	IL1RAP|IL1RAP	191829887|191829887	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.132000|2.132000	0.42083|0.42083	0.723000|0.723000	0.32274|0.32274	0.650000|0.650000	0.86243|0.86243	AAG|AGA	IL1RAP	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000196083		0.403	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	217	0.00	0	G			190347193	190347193	+1	no_errors	ENST00000443369	ensembl	human	known	69_37n	missense	110	17.16	23	SNP	1.000	T
IL1RAP	3556	genome.wustl.edu	37	3	190366152	190366152	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:190366152C>A	ENST00000412504.2	+	11	1623	c.1371C>A	c.(1369-1371)ttC>ttA	p.F457L	IL1RAP_ENST00000439062.1_Missense_Mutation_p.F457L|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.F457L|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000072516.3_Missense_Mutation_p.F457L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	457	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CTTTGAGCTTCATTCAGAAAA	0.493																																						dbGAP											0													132.0	148.0	143.0					3																	190366152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1371C>A	3.37:g.190366152C>A	ENSP00000412053:p.Phe457Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.F457L	ENST00000412504.2	37	c.1371	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169518	0.78452	.	.	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.02236	4.38;4.38;4.38;4.38	5.64	5.64	0.86602	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	N	0.26130	0.795	0.58432	D	0.999995	D	0.67145	0.996	D	0.72338	0.977	T	0.53173	-0.8476	10	0.35671	T	0.21	.	18.6964	0.91603	0.0:1.0:0.0:0.0	.	457	Q9NPH3	IL1AP_HUMAN	L	457	ENSP00000072516:F457L;ENSP00000412053:F457L;ENSP00000401132:F457L;ENSP00000390541:F457L	ENSP00000072516:F457L	F	+	3	2	IL1RAP	191848846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.280000	0.58959	2.676000	0.91093	0.557000	0.71058	TTC	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1	ENSG00000196083		0.493	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1	81	0.00	0	C			190366152	190366152	+1	no_errors	ENST00000072516	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	A
IL1RAPL1	11141	genome.wustl.edu	37	X	29301120	29301120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:29301120C>T	ENST00000378993.1	+	3	821	c.148C>T	c.(148-150)Cga>Tga	p.R50*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.R50*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	50	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R50*(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGCCTGTTCGAATCAAATG	0.413																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											143.0	126.0	132.0					X																	29301120		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.148C>T	X.37:g.29301120C>T	ENSP00000368278:p.Arg50*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like	p.R50*	ENST00000378993.1	37	c.148	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	C	43	9.909426	0.99293	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.51	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.7032	0.62622	0.1586:0.8414:0.0:0.0	.	.	.	.	X	50	.	ENSP00000305200:R50X	R	+	1	2	IL1RAPL1	29211041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	1.161000	0.42604	0.600000	0.82982	CGA	IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000169306		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	476	0.00	0	C	NM_014271		29301120	29301120	+1	no_errors	ENST00000302196	ensembl	human	known	69_37n	nonsense	286	27.78	110	SNP	1.000	T
IL1RAPL1	11141	genome.wustl.edu	37	X	29686611	29686611	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:29686611G>A	ENST00000378993.1	+	6	1441	c.768G>A	c.(766-768)gaG>gaA	p.E256E	IL1RAPL1_ENST00000302196.4_Silent_p.E256E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	256	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAATTCAGGAGACCCAGCTGG	0.388																																						dbGAP											0													100.0	93.0	95.0					X																	29686611		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.768G>A	X.37:g.29686611G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom,pfscan_Ig-like	p.E256	ENST00000378993.1	37	c.768	CCDS14218.1	X																																																																																			IL1RAPL1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000169306		0.388	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	537	0.19	1	G	NM_014271		29686611	29686611	+1	no_errors	ENST00000302196	ensembl	human	known	69_37n	silent	302	21.35	82	SNP	1.000	A
IL1RL2	8808	genome.wustl.edu	37	2	102805546	102805546	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:102805546G>T	ENST00000264257.2	+	3	195	c.69G>T	c.(67-69)aaG>aaT	p.K23N	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.K23N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	23	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ATGGATGCAAGGACATTTTTA	0.328																																						dbGAP											0													59.0	60.0	59.0					2																	102805546		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.69G>T	2.37:g.102805546G>T	ENSP00000264257:p.Lys23Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.K23N	ENST00000264257.2	37	c.69	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	G	7.306	0.614032	0.14066	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.32272	4.14;1.46;4.14	5.28	2.49	0.30216	Immunoglobulin-like (1);	1.331490	0.04490	N	0.379310	T	0.25938	0.0632	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23368	-1.0190	10	0.18276	T	0.48	.	5.7902	0.18357	0.0804:0.1392:0.6391:0.1412	.	23	Q9HB29	ILRL2_HUMAN	N	23	ENSP00000264257:K23N;ENSP00000387611:K23N;ENSP00000442184:K23N	ENSP00000264257:K23N	K	+	3	2	IL1RL2	102171978	0.001000	0.12720	0.011000	0.14972	0.089000	0.18198	0.409000	0.21082	0.432000	0.26286	-0.810000	0.03169	AAG	IL1RL2	-	pfscan_Ig-like	ENSG00000115598		0.328	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	93	0.00	0	G	NM_003854		102805546	102805546	+1	no_errors	ENST00000264257	ensembl	human	known	69_37n	missense	58	12.12	8	SNP	0.069	T
IL1RL2	8808	genome.wustl.edu	37	2	102842469	102842469	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:102842469G>A	ENST00000264257.2	+	9	1229	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	IL1RL2_ENST00000441515.2_Missense_Mutation_p.R250Q|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.R368Q	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	368					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTTTGGTATCGAAGTGCCTTC	0.398																																						dbGAP											0													148.0	127.0	134.0					2																	102842469		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1103G>A	2.37:g.102842469G>A	ENSP00000264257:p.Arg368Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.R368Q	ENST00000264257.2	37	c.1103	CCDS2056.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952278	0.73787	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.11495	2.94;2.77;2.94	5.78	5.78	0.91487	.	0.133554	0.46442	D	0.000289	T	0.41073	0.1143	M	0.85859	2.78	0.45403	D	0.998383	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26573	-1.0099	10	0.56958	D	0.05	.	20.0197	0.97489	0.0:0.0:1.0:0.0	.	250;368	A4FU63;Q9HB29	.;ILRL2_HUMAN	Q	368;250;368	ENSP00000264257:R368Q;ENSP00000413348:R250Q;ENSP00000442184:R368Q	ENSP00000264257:R368Q	R	+	2	0	IL1RL2	102208901	1.000000	0.71417	0.927000	0.36925	0.128000	0.20619	6.464000	0.73534	2.718000	0.92993	0.655000	0.94253	CGA	IL1RL2	-	prints_IL1_rcpt_1	ENSG00000115598		0.398	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	247	0.00	0	G	NM_003854		102842469	102842469	+1	no_errors	ENST00000264257	ensembl	human	known	69_37n	missense	227	14.66	39	SNP	0.998	A
IL23R	149233	genome.wustl.edu	37	1	67721583	67721583	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:67721583A>C	ENST00000347310.5	+	10	1383	c.1212A>C	c.(1210-1212)aaA>aaC	p.K404N	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.K149N	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	404					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTAATATGAAAAACAGCAATG	0.328																																						dbGAP											0													86.0	84.0	85.0					1																	67721583		2200	4299	6499	-	-	-	SO:0001583	missense	0			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1212A>C	1.37:g.67721583A>C	ENSP00000321345:p.Lys404Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.K404N	ENST00000347310.5	37	c.1212	CCDS637.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.92|15.92	2.975025|2.975025	0.53720|0.53720	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|T	0.34275|0.34072	1.37;1.4|1.38	5.51|5.51	0.104|0.104	0.14531|0.14531	.|.	0.704292|0.704292	0.14638|0.14638	N|N	0.307402|0.307402	T|T	0.13884|0.13884	0.0336|0.0336	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B;B;P;B;B;B;P|.	0.36535|.	0.231;0.302;0.231;0.358;0.231;0.557;0.302;0.302;0.358;0.493|.	B;B;B;B;B;B;B;B;B;B|.	0.35971|.	0.12;0.08;0.12;0.215;0.12;0.167;0.08;0.167;0.167;0.167|.	T|T	0.17623|0.17623	-1.0363|-1.0363	10|8	0.87932|0.62326	D|D	0|0.03	-4.8298|-4.8298	8.3266|8.3266	0.32160|0.32160	0.6184:0.0:0.3816:0.0|0.6184:0.0:0.3816:0.0	.|.	150;228;228;39;162;2;233;258;149;404|.	Q5VWK5-2;B6HY71;B6HY89;Q5VWK5-5;E9PHX4;Q5VWK5-7;E9PG12;B6HY79;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;.;.;.;IL23R_HUMAN|.	N|T	404;233;162;149|166	ENSP00000321345:K404N;ENSP00000378652:K149N|ENSP00000387640:K166T	ENSP00000321345:K404N|ENSP00000387640:K166T	K|K	+|+	3|2	2|0	IL23R|IL23R	67494171|67494171	0.998000|0.998000	0.40836|0.40836	0.413000|0.413000	0.26509|0.26509	0.863000|0.863000	0.49368|0.49368	0.446000|0.446000	0.21694|0.21694	0.080000|0.080000	0.16959|0.16959	0.455000|0.455000	0.32223|0.32223	AAA|AAA	IL23R	-	NULL	ENSG00000162594		0.328	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	278	0.00	0	A	NM_144701		67721583	67721583	+1	no_errors	ENST00000347310	ensembl	human	known	69_37n	missense	166	27.83	64	SNP	0.067	C
IL31RA	133396	genome.wustl.edu	37	5	55168247	55168247	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:55168247C>A	ENST00000447346.2	+	4	487	c.422C>A	c.(421-423)tCt>tAt	p.S141Y	IL31RA_ENST00000396836.2_Missense_Mutation_p.S141Y|IL31RA_ENST00000359040.5_Missense_Mutation_p.S141Y|IL31RA_ENST00000354961.4_Missense_Mutation_p.S122Y|IL31RA_ENST00000396834.1_Missense_Mutation_p.S122Y|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000297015.3_5'UTR	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	109	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTAATTAAATCTCATATGACA	0.343																																						dbGAP											0													95.0	98.0	97.0					5																	55168247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.422C>A	5.37:g.55168247C>A	ENSP00000415900:p.Ser141Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S141Y	ENST00000447346.2	37	c.422	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261009	0.59431	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000354961	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	4.35	4.35	0.52113	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.77491	0.4138	M	0.87180	2.865	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.997;0.996	T	0.81455	-0.0925	10	0.87932	D	0	-3.9185	12.5529	0.56236	0.0:1.0:0.0:0.0	.	109;141;122;141;141	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	Y	141;122;141;141;122	ENSP00000380048:S141Y;ENSP00000380046:S122Y;ENSP00000415900:S141Y;ENSP00000351935:S141Y;ENSP00000347047:S122Y	ENSP00000347047:S122Y	S	+	2	0	IL31RA	55204004	0.821000	0.29204	0.701000	0.30321	0.110000	0.19582	1.969000	0.40510	2.417000	0.82017	0.655000	0.94253	TCT	IL31RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000164509		0.343	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	244	0.00	0	C	NM_139017		55168247	55168247	+1	no_errors	ENST00000447346	ensembl	human	known	69_37n	missense	193	19.58	47	SNP	0.853	A
IL37	27178	genome.wustl.edu	37	2	113672807	113672807	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:113672807G>T	ENST00000263326.3	+	2	187				IL37_ENST00000353225.3_Intron|IL37_ENST00000311328.2_Missense_Mutation_p.G13V|IL37_ENST00000352179.3_Intron|IL37_ENST00000349806.3_Intron	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37						immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GAAACCAAAGGAAAGAACAGC	0.428																																						dbGAP											0													125.0	106.0	113.0					2																	113672807		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.145+1376G>T	2.37:g.113672807G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1	p.G13V	ENST00000263326.3	37	c.38	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.282261	0.00251	.	.	ENSG00000125571	ENST00000311328	T	0.16597	2.33	1.63	0.715	0.18186	.	.	.	.	.	T	0.09113	0.0225	.	.	.	0.09310	N	1	P	0.47484	0.896	B	0.36808	0.233	T	0.22695	-1.0209	8	0.40728	T	0.16	.	3.8971	0.09144	0.2378:0.0:0.7622:0.0	.	13	Q9NZH6-2	.	V	13	ENSP00000309883:G13V	ENSP00000309883:G13V	G	+	2	0	IL37	113389278	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.740000	0.04861	0.233000	0.21120	0.506000	0.49869	GGA	IL37	-	NULL	ENSG00000125571		0.428	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	151	0.00	0	G	NM_014439		113672807	113672807	+1	no_errors	ENST00000311328	ensembl	human	known	69_37n	missense	114	17.39	24	SNP	0.001	T
IL37	27178	genome.wustl.edu	37	2	113675274	113675274	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:113675274C>A	ENST00000263326.3	+	4	370	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	IL37_ENST00000353225.3_Missense_Mutation_p.L70I|IL37_ENST00000311328.2_Missense_Mutation_p.L84I|IL37_ENST00000352179.3_Missense_Mutation_p.L89I|IL37_ENST00000349806.3_Missense_Mutation_p.L49I	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	110					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAGTCCGATTCTCCTGGGGGT	0.473																																						dbGAP											0													158.0	168.0	165.0					2																	113675274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.328C>A	2.37:g.113675274C>A	ENSP00000263326:p.Leu110Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	p.L110I	ENST00000263326.3	37	c.328	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	c	6.605	0.480028	0.12581	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225;ENST00000311328	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	3.19	-4.46	0.03536	.	1.499080	0.04499	N	0.380914	T	0.42517	0.1206	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.31817	0.274;0.137;0.341;0.122;0.149	B;B;B;B;B	0.29077	0.079;0.058;0.085;0.088;0.098	T	0.38628	-0.9652	10	0.51188	T	0.08	-4.8993	11.0076	0.47644	0.0:0.2274:0.0:0.7726	.	84;49;70;89;110	Q9NZH6-2;Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;.;IL37_HUMAN	I	110;89;49;70;84	ENSP00000263326:L110I;ENSP00000263327:L89I;ENSP00000263328:L49I;ENSP00000309208:L70I;ENSP00000309883:L84I	ENSP00000263326:L110I	L	+	1	0	IL37	113391745	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.236000	0.00546	-1.309000	0.02315	-0.258000	0.10820	CTC	IL37	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	ENSG00000125571		0.473	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	288	0.00	0	C	NM_014439		113675274	113675274	+1	no_errors	ENST00000263326	ensembl	human	known	69_37n	missense	219	13.78	35	SNP	0.000	A
IL36G	56300	genome.wustl.edu	37	2	113737681	113737681	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:113737681T>G	ENST00000259205.4	+	4	325	c.256T>G	c.(256-258)Ttg>Gtg	p.L86V	IL36G_ENST00000376489.2_Missense_Mutation_p.L51V	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	86					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AGAAATGTGTTTGTATTGTGA	0.403																																						dbGAP											0													73.0	74.0	74.0					2																	113737681		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.256T>G	2.37:g.113737681T>G	ENSP00000259205:p.Leu86Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1	p.L86V	ENST00000259205.4	37	c.256	CCDS2108.1	2	.	.	.	.	.	.	.	.	.	.	T	12.57	1.977262	0.34848	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.38240	1.15;1.9	5.08	2.13	0.27403	.	0.000000	0.47455	D	0.000230	T	0.57592	0.2064	M	0.86953	2.85	0.30017	N	0.814705	D;D	0.71674	0.996;0.998	P;D	0.69479	0.846;0.964	T	0.57441	-0.7811	10	0.62326	D	0.03	-21.1736	7.2415	0.26100	0.0:0.7125:0.0:0.2875	.	51;86	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	V	51;86	ENSP00000365672:L51V;ENSP00000259205:L86V	ENSP00000259205:L86V	L	+	1	2	IL36G	113454152	0.723000	0.28027	0.970000	0.41538	0.173000	0.22820	-0.167000	0.09940	0.723000	0.32274	-0.182000	0.12963	TTG	IL36G	-	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1	ENSG00000136688		0.403	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36G	HGNC	protein_coding	OTTHUMT00000330713.2	245	0.00	0	T	NM_019618		113737681	113737681	+1	no_errors	ENST00000259205	ensembl	human	known	69_37n	missense	182	23.21	55	SNP	0.954	G
IL3RA	3563	genome.wustl.edu	37	X	1471272	1471272	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:1471272C>T	ENST00000331035.4	+	6	838	c.489C>T	c.(487-489)atC>atT	p.I163I	IL3RA_ENST00000381469.2_Silent_p.I85I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	163					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAACACGTATCGGGTGTCGTT	0.587																																						dbGAP											0													374.0	355.0	361.0					X																	1471272		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.489C>T	X.37:g.1471272C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.I163	ENST00000331035.4	37	c.489	CCDS14113.1	X																																																																																			IL3RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000185291		0.587	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	85	0.00	0	C			1471272	1471272	+1	no_errors	ENST00000331035	ensembl	human	known	69_37n	silent	65	12.16	9	SNP	0.000	T
IL3RA	3563	genome.wustl.edu	37	X	1475214	1475214	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:1475214G>A	ENST00000331035.4	+	7	1066	c.717G>A	c.(715-717)gaG>gaA	p.E239E	IL3RA_ENST00000381469.2_Silent_p.E161E	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	239					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCGCTATGAGCTTCAGATAC	0.463																																						dbGAP											0													152.0	143.0	146.0					X																	1475214		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.717G>A	X.37:g.1475214G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.E239	ENST00000331035.4	37	c.717	CCDS14113.1	X																																																																																			IL3RA	-	superfamily_Fibronectin_type3	ENSG00000185291		0.463	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	45	0.00	0	G			1475214	1475214	+1	no_errors	ENST00000331035	ensembl	human	known	69_37n	silent	43	21.43	12	SNP	0.001	A
IL6R	3570	genome.wustl.edu	37	1	154407479	154407479	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154407479G>A	ENST00000368485.3	+	5	1091	c.654G>A	c.(652-654)ccG>ccA	p.P218P	IL6R_ENST00000344086.4_Silent_p.P218P	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	218	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	AGCCTGATCCGCCTGCCAACA	0.557																																						dbGAP											0													47.0	43.0	44.0					1																	154407479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.654G>A	1.37:g.154407479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R141H	ENST00000368485.3	37	c.422	CCDS1067.1	1	.	.	.	.	.	.	.	.	.	.	G	0.535	-0.856030	0.02630	.	.	ENSG00000160712	ENST00000476006;ENST00000515190	.	.	.	5.19	-10.4	0.00318	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.45205	D	0.998218	.	.	.	.	.	.	T	0.57400	-0.7818	4	.	.	.	-22.6425	9.2683	0.37654	0.1376:0.0:0.5012:0.3611	.	.	.	.	H	141;21	.	.	R	+	2	0	IL6R	152674103	0.079000	0.21365	0.027000	0.17364	0.123000	0.20343	-1.577000	0.02127	-3.197000	0.00218	-0.824000	0.03097	CGC	IL6R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000160712		0.557	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	66	0.00	0	G	NM_000565		154407479	154407479	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000476006	ensembl	human	novel	69_37n	missense	23	40.00	16	SNP	0.027	A
IL6ST	3572	genome.wustl.edu	37	5	55237578	55237578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:55237578C>A	ENST00000381298.2	-	17	2401	c.2089G>T	c.(2089-2091)Gaa>Taa	p.E697*	IL6ST_ENST00000381294.3_Nonsense_Mutation_p.E636*|IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000336909.5_Nonsense_Mutation_p.E697*|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Nonsense_Mutation_p.E697*	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	697					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCATTTGCTTCTATTTCCACA	0.343			O		hepatocellular ca																																	dbGAP		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													91.0	98.0	96.0					5																	55237578		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2089G>T	5.37:g.55237578C>A	ENSP00000370698:p.Glu697*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L4|Q5FC04|Q9UQ41	Nonsense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E697*	ENST00000381298.2	37	c.2089	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.889804	0.97068	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	.	.	.	5.53	5.53	0.82687	.	0.142643	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	13.0993	0.59210	0.0:0.9266:0.0:0.0734	.	.	.	.	X	697;697;636	.	ENSP00000338799:E697X	E	-	1	0	IL6ST	55273335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.217000	0.65252	2.755000	0.94549	0.650000	0.86243	GAA	IL6ST	-	NULL	ENSG00000134352		0.343	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	156	0.00	0	C	NM_002184		55237578	55237578	-1	no_errors	ENST00000336909	ensembl	human	known	69_37n	nonsense	101	14.41	17	SNP	1.000	A
IL6ST	3572	genome.wustl.edu	37	5	55247364	55247364	+	Missense_Mutation	SNP	C	C	T	rs201143335		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:55247364C>T	ENST00000381298.2	-	14	2080	c.1768G>A	c.(1768-1770)Gta>Ata	p.V590I	IL6ST_ENST00000381294.3_Missense_Mutation_p.V529I|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.V590I|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.V590I|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	590	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCATTCGTACCATGTACAAT	0.388			O		hepatocellular ca																																	dbGAP		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													143.0	130.0	135.0					5																	55247364		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1768G>A	5.37:g.55247364C>T	ENSP00000370698:p.Val590Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V590I	ENST00000381298.2	37	c.1768	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906039	0.92107	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.59083	0.29;0.29;2.28	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178648	0.49916	D	0.000128	T	0.71022	0.3291	L	0.60957	1.885	0.80722	D	1	P;P;P	0.49635	0.889;0.926;0.889	P;P;P	0.56612	0.736;0.802;0.736	T	0.70920	-0.4741	10	0.62326	D	0.03	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	590;529;590	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	I	590;590;529	ENSP00000370698:V590I;ENSP00000338799:V590I;ENSP00000370694:V529I	ENSP00000338799:V590I	V	-	1	0	IL6ST	55283121	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.641000	0.67881	2.775000	0.95449	0.650000	0.86243	GTA	IL6ST	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134352		0.388	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	276	0.00	0	C	NM_002184		55247364	55247364	-1	no_errors	ENST00000336909	ensembl	human	known	69_37n	missense	196	11.31	25	SNP	1.000	T
IL6ST	3572	genome.wustl.edu	37	5	55264183	55264183	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:55264183C>T	ENST00000381298.2	-	5	724	c.412G>A	c.(412-414)Gag>Aag	p.E138K	IL6ST_ENST00000381294.3_Missense_Mutation_p.E138K|IL6ST_ENST00000381287.4_Missense_Mutation_p.E138K|IL6ST_ENST00000336909.5_Missense_Mutation_p.E138K|IL6ST_ENST00000522633.2_Missense_Mutation_p.E138K|IL6ST_ENST00000536319.1_Missense_Mutation_p.E138K|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.E138K|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	138	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTCTTCCCCTCGTTCACAATG	0.348			O		hepatocellular ca																																	dbGAP		Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													134.0	131.0	132.0					5																	55264183		2202	4300	6502	-	-	-	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.412G>A	5.37:g.55264183C>T	ENSP00000370698:p.Glu138Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E138K	ENST00000381298.2	37	c.412	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679526	0.68042	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.76	5.76	0.90799	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.348037	0.34411	N	0.003994	T	0.44664	0.1304	M	0.65498	2.005	0.43924	D	0.996579	P;P;D	0.53745	0.896;0.951;0.962	B;P;P	0.46917	0.356;0.459;0.531	T	0.31752	-0.9932	10	0.32370	T	0.25	.	9.3736	0.38270	0.0:0.7338:0.1881:0.0781	.	138;138;138	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	K	138	ENSP00000370698:E138K;ENSP00000338799:E138K;ENSP00000370694:E138K;ENSP00000370687:E138K;ENSP00000444456:E138K;ENSP00000435399:E138K	ENSP00000338799:E138K	E	-	1	0	IL6ST	55299940	0.996000	0.38824	0.730000	0.30809	0.864000	0.49448	3.651000	0.54431	2.880000	0.98712	0.650000	0.86243	GAG	IL6ST	-	pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000134352		0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	591	0.00	0	C	NM_002184		55264183	55264183	-1	no_errors	ENST00000336909	ensembl	human	known	69_37n	missense	537	11.51	70	SNP	0.458	T
IL7	3574	genome.wustl.edu	37	8	79646025	79646025	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:79646025A>C	ENST00000263851.4	-	6	1057	c.457T>G	c.(457-459)Ttg>Gtg	p.L153V	IL7_ENST00000520269.1_Missense_Mutation_p.L109V|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.L40V	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	153					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						AGGAAACACAAGTCATTCAGT	0.259																																						dbGAP											0													82.0	88.0	86.0					8																	79646025		2201	4299	6500	-	-	-	SO:0001583	missense	0			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.457T>G	8.37:g.79646025A>C	ENSP00000263851:p.Leu153Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7,prints_Interleukin-7	p.L153V	ENST00000263851.4	37	c.457	CCDS6224.1	8	.	.	.	.	.	.	.	.	.	.	A	5.111	0.206159	0.09704	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.58060	0.36;0.36;0.36	4.46	-2.87	0.05700	Interleukin-7/-9, conserved site (1);	3.015820	0.01173	N	0.006909	T	0.34454	0.0898	L	0.27053	0.805	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.19391	0.025;0.008	T	0.05954	-1.0854	9	.	.	.	.	1.0364	0.01549	0.1604:0.1548:0.3279:0.3569	.	153;109	P13232;Q5FBY9	IL7_HUMAN;.	V	153;109;106;40	ENSP00000263851:L153V;ENSP00000427750:L109V;ENSP00000438922:L40V	.	L	-	1	2	IL7	79808580	0.000000	0.05858	0.005000	0.12908	0.530000	0.34684	-0.789000	0.04609	-0.219000	0.10003	0.533000	0.62120	TTG	IL7	-	pfam_Interleukin_7_9,smart_Interleukin-7,pirsf_Interleukin-7,prints_Interleukin-7	ENSG00000104432		0.259	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7	HGNC	protein_coding	OTTHUMT00000379429.1	236	0.00	0	A			79646025	79646025	-1	no_errors	ENST00000263851	ensembl	human	known	69_37n	missense	135	17.18	28	SNP	0.000	C
ILF3	3609	genome.wustl.edu	37	19	10793296	10793296	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:10793296G>A	ENST00000590261.1	+	12	1464	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	ILF3_ENST00000589998.1_Silent_p.A488A|ILF3_ENST00000420083.1_Silent_p.A488A|ILF3_ENST00000250241.8_Silent_p.A488A|ILF3_ENST00000588657.1_Silent_p.A488A|ILF3_ENST00000592763.1_Silent_p.A488A|ILF3_ENST00000449870.1_Silent_p.A488A|ILF3_ENST00000318511.3_Silent_p.A488A|ILF3_ENST00000407004.3_Silent_p.A488A			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	488					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGACCGAGGCGAAGCCAGCAG	0.642																																						dbGAP											0													52.0	46.0	48.0					19																	10793296		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1464G>A	19.37:g.10793296G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.A488	ENST00000590261.1	37	c.1464	CCDS12246.1	19																																																																																			ILF3	-	NULL	ENSG00000129351		0.642	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	49	0.00	0	G			10793296	10793296	+1	no_errors	ENST00000449870	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	0.139	A
ILVBL	10994	genome.wustl.edu	37	19	15226687	15226687	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:15226687C>T	ENST00000263383.3	-	14	1727	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	ILVBL_ENST00000534378.1_Missense_Mutation_p.E423K	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	530	Thiamine pyrophosphate binding. {ECO:0000250}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GTATCAAATTCGATGAGGCTG	0.587																																						dbGAP											0													74.0	72.0	73.0					19																	15226687		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1588G>A	19.37:g.15226687C>T	ENSP00000263383:p.Glu530Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.E530K	ENST00000263383.3	37	c.1588	CCDS12325.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471676	0.84533	.	.	ENSG00000105135	ENST00000263383	T	0.58652	0.32	5.69	5.69	0.88448	Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86301	0.5900	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91526	0.5238	10	0.87932	D	0	-27.9627	17.3039	0.87189	0.0:1.0:0.0:0.0	.	530	A1L0T0	ILVBL_HUMAN	K	530	ENSP00000263383:E530K	ENSP00000263383:E530K	E	-	1	0	ILVBL	15087687	1.000000	0.71417	0.964000	0.40570	0.237000	0.25408	7.470000	0.80973	2.696000	0.92011	0.655000	0.94253	GAA	ILVBL	-	pfam_TPP_enzyme-bd_C	ENSG00000105135		0.587	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	55	0.00	0	C	NM_006844		15226687	15226687	-1	no_errors	ENST00000263383	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	T
IMMP1L	196294	genome.wustl.edu	37	11	31484792	31484792	+	Missense_Mutation	SNP	C	C	T	rs180782155	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:31484792C>T	ENST00000278200.1	-	3	227	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	IMMP1L_ENST00000532287.1_Missense_Mutation_p.R11Q|IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000526776.1_Missense_Mutation_p.R11Q|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000533642.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	11					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GCCAACAAGTCGAAAGGTTTT	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		16559	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													116.0	97.0	103.0					11																	31484792		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.32G>A	11.37:g.31484792C>T	ENSP00000278200:p.Arg11Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQZ7|Q96SH9	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.R11Q	ENST00000278200.1	37	c.32	CCDS7874.1	11	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.78	3.696450	0.68386	.	.	ENSG00000148950	ENST00000532287;ENST00000526776;ENST00000278200;ENST00000529749;ENST00000530023	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.6	5.6	0.85130	.	0.216387	0.42172	D	0.000756	T	0.34077	0.0885	L	0.43152	1.355	0.80722	D	1	P;P	0.47253	0.892;0.54	B;B	0.35182	0.197;0.032	T	0.12578	-1.0542	10	0.19590	T	0.45	-0.1243	19.223	0.93806	0.0:1.0:0.0:0.0	.	11;11	E9PIG6;Q96LU5	.;IMP1L_HUMAN	Q	11	ENSP00000435576:R11Q;ENSP00000434280:R11Q;ENSP00000278200:R11Q;ENSP00000432001:R11Q;ENSP00000432792:R11Q	ENSP00000278200:R11Q	R	-	2	0	IMMP1L	31441368	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.486000	0.66856	2.630000	0.89119	0.591000	0.81541	CGA	IMMP1L	-	NULL	ENSG00000148950		0.368	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP1L	HGNC	protein_coding	OTTHUMT00000388496.1	381	0.00	0	C	NM_144981		31484792	31484792	-1	no_errors	ENST00000278200	ensembl	human	known	69_37n	missense	251	25.96	88	SNP	1.000	T
IMPA2	3613	genome.wustl.edu	37	18	12009921	12009921	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:12009921T>C	ENST00000269159.3	+	3	512	c.270T>C	c.(268-270)tgT>tgC	p.C90C	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	90					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GGGCCAAGTGTGTGCTCACCC	0.572																																						dbGAP											0													125.0	122.0	123.0					18																	12009921		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.270T>C	18.37:g.12009921T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ29|Q9UJT3	Silent	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen	p.C90	ENST00000269159.3	37	c.270	CCDS11855.1	18																																																																																			IMPA2	-	pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase	ENSG00000141401		0.572	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	85	0.00	0	T			12009921	12009921	+1	no_errors	ENST00000269159	ensembl	human	known	69_37n	silent	29	32.56	14	SNP	0.977	C
IMPACT	55364	genome.wustl.edu	37	18	22030766	22030766	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:22030766A>G	ENST00000284202.4	+	11	1059	c.918A>G	c.(916-918)ggA>ggG	p.G306G		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	306					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AGGCTTTGGGAAAGAACAAAA	0.313																																						dbGAP											0													97.0	95.0	96.0					18																	22030766		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.918A>G	18.37:g.22030766A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	NULL	p.K4E	ENST00000284202.4	37	c.10	CCDS11886.1	18																																																																																			IMPACT	-	NULL	ENSG00000154059		0.313	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPACT	HGNC	protein_coding	OTTHUMT00000254901.1	521	0.00	0	A	NM_018439		22030766	22030766	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000580035	ensembl	human	known	69_37n	missense	401	14.13	66	SNP	1.000	G
IMPG1	3617	genome.wustl.edu	37	6	76640679	76640679	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:76640679G>A	ENST00000369950.3	-	15	2423	c.2234C>T	c.(2233-2235)gCt>gTt	p.A745V	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGCATGGAGCTCCCTTTCC	0.512																																					Pancreas(37;839 1141 2599 26037)	dbGAP											0													124.0	113.0	117.0					6																	76640679		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2234C>T	6.37:g.76640679G>A	ENSP00000358966:p.Ala745Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.A745V	ENST00000369950.3	37	c.2234	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476994	0.44044	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.39056	1.1;1.59	5.45	2.61	0.31194	.	0.733892	0.12368	N	0.475020	T	0.15176	0.0366	L	0.45352	1.415	0.24242	N	0.995352	P	0.34934	0.476	B	0.31547	0.132	T	0.09907	-1.0653	10	0.52906	T	0.07	.	8.0022	0.30304	0.266:0.0:0.734:0.0	.	745	Q17R60	IMPG1_HUMAN	V	745;106	ENSP00000358966:A745V;ENSP00000358968:A106V	ENSP00000358966:A745V	A	-	2	0	IMPG1	76697399	0.996000	0.38824	0.000000	0.03702	0.186000	0.23388	2.379000	0.44318	0.248000	0.21435	0.461000	0.40582	GCT	IMPG1	-	NULL	ENSG00000112706		0.512	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	154	0.00	0	G	NM_001563		76640679	76640679	-1	no_errors	ENST00000369950	ensembl	human	known	69_37n	missense	84	24.32	27	SNP	0.218	A
IMPG2	50939	genome.wustl.edu	37	3	100964785	100964785	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:100964785C>T	ENST00000193391.7	-	12	1591	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	468					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGCCCATCTTCGAGGGAAAGG	0.517																																						dbGAP											0													103.0	106.0	105.0					3																	100964785		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1404G>A	3.37:g.100964785C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S468	ENST00000193391.7	37	c.1404	CCDS2940.1	3																																																																																			IMPG2	-	NULL	ENSG00000081148		0.517	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	303	0.00	0	C			100964785	100964785	-1	no_errors	ENST00000193391	ensembl	human	known	69_37n	silent	127	27.43	48	SNP	0.003	T
INADL	10207	genome.wustl.edu	37	1	62593777	62593777	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:62593777G>T	ENST00000371158.2	+	40	5280				INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTAAACGAGAGAACTGGTTGA	0.493																																						dbGAP											0													65.0	63.0	64.0					1																	62593777		1938	4130	6068	-	-	-	SO:0001627	intron_variant	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5166+11G>T	1.37:g.62593777G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	RNA	SNP	-	NULL	ENST00000371158.2	37	NULL	CCDS617.2	1																																																																																			INADL	-	-	ENSG00000132849		0.493	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	97	0.00	0	G	NM_170605		62593777	62593777	+1	no_errors	ENST00000472512	ensembl	human	known	69_37n	rna	82	11.83	11	SNP	0.000	T
INHBA	3624	genome.wustl.edu	37	7	41739756	41739756	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:41739756C>T	ENST00000242208.4	-	2	463	c.217G>A	c.(217-219)Gat>Aat	p.D73N	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.D73N|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	73					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGGTGACATCGGGTCTCTTC	0.552										TSP Lung(11;0.080)																												dbGAP											0													243.0	261.0	255.0					7																	41739756		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.217G>A	7.37:g.41739756C>T	ENSP00000242208:p.Asp73Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.D73N	ENST00000242208.4	37	c.217	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	C	5.723	0.317965	0.10845	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.62639	0.01;0.01	5.49	4.61	0.57282	Transforming growth factor-beta, N-terminal (1);	0.410513	0.28612	N	0.014730	T	0.15912	0.0383	N	0.00068	-2.285	0.37970	D	0.933254	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	10	0.02654	T	1	-6.9095	6.891	0.24230	0.0:0.7036:0.0:0.2964	.	73	P08476	INHBA_HUMAN	N	73	ENSP00000242208:D73N;ENSP00000397197:D73N	ENSP00000242208:D73N	D	-	1	0	INHBA	41706281	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.007000	0.57093	1.315000	0.45114	0.655000	0.94253	GAT	INHBA	-	pfam_TGF-b_N,prints_Inhibin_betaA	ENSG00000122641		0.552	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	70	0.00	0	C			41739756	41739756	-1	no_errors	ENST00000242208	ensembl	human	known	69_37n	missense	43	11.76	6	SNP	1.000	T
INIP	58493	genome.wustl.edu	37	9	115451825	115451825	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115451825T>G	ENST00000374242.4	-	4	506	c.201A>C	c.(199-201)caA>caC	p.Q67H	INIP_ENST00000374234.1_Intron|INIP_ENST00000374236.1_Missense_Mutation_p.Q37H|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374238.1_Intron	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	67					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)											CTGCCTTCTGTTGGGCTGCAA	0.478																																						dbGAP											0													121.0	106.0	111.0					9																	115451825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.201A>C	9.37:g.115451825T>G	ENSP00000363360:p.Gln67His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	NULL	p.Q67H	ENST00000374242.4	37	c.201	CCDS6785.1	9	.	.	.	.	.	.	.	.	.	.	T	19.84	3.902105	0.72754	.	.	ENSG00000148153	ENST00000374242;ENST00000374236	.	.	.	5.74	-1.36	0.09085	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.62053	-0.6935	9	0.45353	T	0.12	-16.9616	11.5742	0.50852	0.0:0.5089:0.0:0.4911	.	67	Q9NRY2	SOSSC_HUMAN	H	67;37	.	ENSP00000363353:Q37H	Q	-	3	2	C9orf80	114491646	0.365000	0.25006	0.981000	0.43875	0.960000	0.62799	-0.404000	0.07205	-0.462000	0.06984	-0.483000	0.04790	CAA	INIP	-	NULL	ENSG00000148153		0.478	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INIP	HGNC	protein_coding	OTTHUMT00000053692.2	221	0.00	0	T	NM_021218		115451825	115451825	-1	no_errors	ENST00000374242	ensembl	human	known	69_37n	missense	127	27.01	47	SNP	0.999	G
INPP4B	8821	genome.wustl.edu	37	4	143235911	143235911	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:143235911C>T	ENST00000513000.1	-	9	810	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	INPP4B_ENST00000508116.1_Missense_Mutation_p.R126Q|INPP4B_ENST00000509777.1_Missense_Mutation_p.R126Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.R126Q|INPP4B_ENST00000308502.4_Missense_Mutation_p.R126Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	126	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GACACTGGTTCGAACCTGTGG	0.448																																						dbGAP											0													123.0	128.0	126.0					4																	143235911		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.377G>A	4.37:g.143235911C>T	ENSP00000425487:p.Arg126Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R126Q	ENST00000513000.1	37	c.377	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890656	0.52014	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812	T;T;T;T;T;T	0.30182	1.96;1.96;1.96;1.96;1.95;1.54	6.04	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.588816	0.16718	N	0.202386	T	0.15609	0.0376	N	0.08118	0	0.26236	N	0.978944	B	0.12630	0.006	B	0.12156	0.007	T	0.20273	-1.0280	10	0.12766	T	0.61	.	11.4192	0.49971	0.0:0.9174:0.0:0.0826	.	126	O15327	INP4B_HUMAN	Q	126	ENSP00000425487:R126Q;ENSP00000262992:R126Q;ENSP00000308441:R126Q;ENSP00000423954:R126Q;ENSP00000422793:R126Q;ENSP00000427250:R126Q	ENSP00000262992:R126Q	R	-	2	0	INPP4B	143455361	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.099000	0.41767	1.568000	0.49683	0.561000	0.74099	CGA	INPP4B	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000109452		0.448	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	407	0.00	0	C	NM_003866		143235911	143235911	-1	no_errors	ENST00000509777	ensembl	human	known	69_37n	missense	263	15.16	47	SNP	1.000	T
INPP5B	3633	genome.wustl.edu	37	1	38411998	38411998	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:38411998G>A	ENST00000373023.2	-	0	76				INPP5B_ENST00000373024.3_5'UTR|INPP5B_ENST00000373021.1_5'UTR|INPP5B_ENST00000373026.1_5'Flank	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa						in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGCTGAGCGCACACACCCT	0.622																																						dbGAP											0													26.0	27.0	26.0					1																	38411998		1989	4164	6153	-	-	-	SO:0001623	5_prime_UTR_variant	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373023.2:c.-18C>T	1.37:g.38411998G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	RNA	SNP	-	NULL	ENST00000373023.2	37	NULL		1																																																																																			INPP5B	-	-	ENSG00000204084		0.622	INPP5B-201	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding		44	0.00	0	G	NM_005540		38411998	38411998	-1	no_errors	ENST00000491406	ensembl	human	known	69_37n	rna	30	21.05	8	SNP	0.000	A
INPP5F	22876	genome.wustl.edu	37	10	121571432	121571432	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:121571432C>A	ENST00000361976.2	+	15	2017	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATGAGAAGTTCCATGGGGGCT	0.458																																						dbGAP											0													114.0	124.0	121.0					10																	121571432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1851C>A	10.37:g.121571432C>A	ENSP00000354519:p.Phe617Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.F617L	ENST00000361976.2	37	c.1851	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	8.095	0.775398	0.16051	.	.	ENSG00000198825	ENST00000361976	T	0.37235	1.21	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	N	0.25647	0.755	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.14448	-1.0472	10	0.07990	T	0.79	-15.96	19.5077	0.95125	0.0:1.0:0.0:0.0	.	617	Q9Y2H2	SAC2_HUMAN	L	617	ENSP00000354519:F617L	ENSP00000354519:F617L	F	+	3	2	INPP5F	121561422	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.967000	0.40491	2.624000	0.88883	0.563000	0.77884	TTC	INPP5F	-	pfam_Inositol_phosphatase	ENSG00000198825		0.458	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	237	0.00	0	C	NM_014937		121571432	121571432	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	missense	123	24.07	39	SNP	1.000	A
MCMBP	79892	genome.wustl.edu	37	10	121586162	121586162	+	IGR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:121586162G>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000369080.3_Missense_Mutation_p.E147K|INPP5F_ENST00000361976.2_Missense_Mutation_p.E757K	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAAACCTCACGAAGACATCAT	0.353																																						dbGAP											0													90.0	96.0	94.0					10																	121586162		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121586162G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.E757K	ENST00000360003.3	37	c.2269	CCDS7617.1	10	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536923	0.65085	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.50548	1.02;0.74	5.48	5.48	0.80851	.	0.197412	0.46145	D	0.000308	T	0.59238	0.2179	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.68353	0.957;0.643	T	0.56739	-0.7929	10	0.40728	T	0.16	-29.9308	19.3546	0.94407	0.0:0.0:1.0:0.0	.	147;757	Q5W135;Q9Y2H2	.;SAC2_HUMAN	K	757;147	ENSP00000354519:E757K;ENSP00000358076:E147K	ENSP00000354519:E757K	E	+	1	0	INPP5F	121576152	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.748000	0.98867	2.574000	0.86865	0.467000	0.42956	GAA	INPP5F	-	NULL	ENSG00000198825		0.353	MCMBP-002	KNOWN	basic|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050684.1	102	0.00	0	G	NM_024834		121586162	121586162	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	missense	75	13.79	12	SNP	1.000	A
INSL6	11172	genome.wustl.edu	37	9	5185437	5185437	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:5185437C>T	ENST00000381641.3	-	1	231	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	56					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GTTTCCTCCTCGAAACGGAAC	0.562																																						dbGAP											0													95.0	91.0	92.0					9																	5185437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.166G>A	9.37:g.5185437C>T	ENSP00000371054:p.Glu56Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6	p.E56K	ENST00000381641.3	37	c.166	CCDS6458.1	9	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713664	0.30413	.	.	ENSG00000120210	ENST00000381641	D	0.87966	-2.32	4.39	-0.968	0.10313	Insulin-like (4);	41.562500	0.00166	N	0.000000	D	0.83617	0.5293	L	0.54323	1.7	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.63037	-0.6726	10	0.37606	T	0.19	-13.5653	6.2884	0.21047	0.0:0.3777:0.4445:0.1778	.	56	Q9Y581	INSL6_HUMAN	K	56	ENSP00000371054:E56K	ENSP00000371054:E56K	E	-	1	0	INSL6	5175437	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.073000	0.11468	-0.149000	0.11215	0.655000	0.94253	GAG	INSL6	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6	ENSG00000120210		0.562	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL6	HGNC	protein_coding	OTTHUMT00000051608.3	164	0.00	0	C	NM_007179		5185437	5185437	-1	no_errors	ENST00000381641	ensembl	human	known	69_37n	missense	89	12.75	13	SNP	0.000	T
INSR	3643	genome.wustl.edu	37	19	7172401	7172401	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:7172401C>A	ENST00000302850.5	-	5	1310	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	INSR_ENST00000341500.5_Nonsense_Mutation_p.E390*	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	390					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTGAAATTTCTTCAATGAGG	0.448																																						dbGAP											0													142.0	130.0	134.0					19																	7172401		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1168G>T	19.37:g.7172401C>A	ENSP00000303830:p.Glu390*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.E390*	ENST00000302850.5	37	c.1168	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.637371	0.98403	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	.	.	.	5.12	5.12	0.69794	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.6587	0.39941	0.0:0.9054:0.0:0.0946	.	.	.	.	X	390	.	ENSP00000303830:E390X	E	-	1	0	INSR	7123401	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.634000	0.61325	2.397000	0.81536	0.561000	0.74099	GAA	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000171105		0.448	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	327	0.00	0	C			7172401	7172401	-1	no_errors	ENST00000302850	ensembl	human	known	69_37n	nonsense	238	12.18	33	SNP	1.000	A
INTS10	55174	genome.wustl.edu	37	8	19694646	19694646	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:19694646G>A	ENST00000397977.3	+	13	2012	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGGAACCCTCGAAAGTAAAGC	0.403																																						dbGAP											0													111.0	107.0	108.0					8																	19694646		1854	4098	5952	-	-	-	SO:0001819	synonymous_variant	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1614G>A	8.37:g.19694646G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.E19K	ENST00000397977.3	37	c.55	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.593|3.593	-0.083242|-0.083242	0.07141|0.07141	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000518799|ENST00000520670	.|.	.|.	.|.	5.27|5.27	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|T	0.48732|0.48732	0.1516|0.1516	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61038|0.61038	-0.7143|-0.7143	4|4	.|.	.|.	.|.	-1.3785|-1.3785	10.9598|10.9598	0.47379|0.47379	0.1275:0.6679:0.0687:0.1359|0.1275:0.6679:0.0687:0.1359	.|.	.|.	.|.	.|.	K|Q	121|28	.|.	.|.	E|R	+|+	1|2	0|0	INTS10|INTS10	19738926|19738926	0.023000|0.023000	0.18921|0.18921	0.513000|0.513000	0.27749|0.27749	0.299000|0.299000	0.27559|0.27559	-0.504000|-0.504000	0.06375|0.06375	-1.106000|-1.106000	0.03008|0.03008	-1.235000|-1.235000	0.01560|0.01560	GAA|CGA	INTS10	-	NULL	ENSG00000104613		0.403	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	306	0.00	0	G	NM_018142		19694646	19694646	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000521008	ensembl	human	known	69_37n	missense	282	12.35	40	SNP	0.791	A
INTS2	57508	genome.wustl.edu	37	17	59967157	59967157	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:59967157C>T	ENST00000444766.3	-	15	2073	c.1998G>A	c.(1996-1998)acG>acA	p.T666T	INTS2_ENST00000251334.6_Silent_p.T658T	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	666					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTAAAGTCTTCGTGTTTGCTA	0.393																																						dbGAP											0													85.0	81.0	82.0					17																	59967157		1890	4116	6006	-	-	-	SO:0001819	synonymous_variant	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1998G>A	17.37:g.59967157C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Silent	SNP	NULL	p.T666	ENST00000444766.3	37	c.1998	CCDS45750.1	17																																																																																			INTS2	-	NULL	ENSG00000108506		0.393	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	334	0.00	0	C	NM_020748		59967157	59967157	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	silent	199	17.01	41	SNP	0.054	T
INTS3	65123	genome.wustl.edu	37	1	153733389	153733389	+	Silent	SNP	C	C	A	rs150050759		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153733389C>A	ENST00000318967.2	+	13	1972	c.1404C>A	c.(1402-1404)gtC>gtA	p.V468V	INTS3_ENST00000435409.2_Silent_p.V468V|INTS3_ENST00000512605.1_Silent_p.V262V|INTS3_ENST00000456435.1_Silent_p.V262V|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	469					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAAACGGGTCTTGGCGTAAG	0.502																																						dbGAP											0													116.0	102.0	107.0					1																	153733389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1404C>A	1.37:g.153733389C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	pfam_Integrator_3	p.V468	ENST00000318967.2	37	c.1404	CCDS1052.1	1																																																																																			INTS3	-	pfam_Integrator_3	ENSG00000143624		0.502	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	241	0.00	0	C	NM_023015		153733389	153733389	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	silent	144	12.73	21	SNP	1.000	A
INTS3	65123	genome.wustl.edu	37	1	153742293	153742293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153742293C>T	ENST00000318967.2	+	23	2930	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	INTS3_ENST00000435409.2_Nonsense_Mutation_p.R788*|INTS3_ENST00000512605.1_Nonsense_Mutation_p.R582*|INTS3_ENST00000456435.1_Nonsense_Mutation_p.R582*|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	789					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.R788*(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTTATGTTTCGAAAAGACTC	0.507																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											113.0	100.0	105.0					1																	153742293		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2362C>T	1.37:g.153742293C>T	ENSP00000318641:p.Arg788*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Nonsense_Mutation	SNP	pfam_Integrator_3	p.R788*	ENST00000318967.2	37	c.2362	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.850008	0.98976	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	17.0466	0.86505	0.0:1.0:0.0:0.0	.	.	.	.	X	788;582;788;582	.	ENSP00000318641:R788X	R	+	1	2	INTS3	152008917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.097000	0.50251	2.894000	0.99253	0.655000	0.94253	CGA	INTS3	-	NULL	ENSG00000143624		0.507	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	145	0.00	0	C	NM_023015		153742293	153742293	+1	no_errors	ENST00000318967	ensembl	human	known	69_37n	nonsense	85	14.14	14	SNP	1.000	T
INTS4	92105	genome.wustl.edu	37	11	77602876	77602876	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:77602876C>T	ENST00000534064.1	-	20	2333	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	INTS4_ENST00000535943.1_Missense_Mutation_p.A142T|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	767					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGCAAATCAGCGATGAAATAC	0.483																																						dbGAP											0													35.0	39.0	38.0					11																	77602876		2195	4285	6480	-	-	-	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2299G>A	11.37:g.77602876C>T	ENSP00000434466:p.Ala767Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.A767T	ENST00000534064.1	37	c.2299	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	C	5.791	0.330300	0.10956	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.64	2.62	0.31277	.	0.405224	0.27240	N	0.020272	T	0.16300	0.0392	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13791	-1.0496	9	0.21014	T	0.42	-15.2548	5.2387	0.15460	0.2588:0.5564:0.0:0.1847	.	767	Q96HW7	INT4_HUMAN	T	767;142	.	ENSP00000434466:A767T	A	-	1	0	INTS4	77280524	0.019000	0.18553	0.941000	0.38009	0.920000	0.55202	0.121000	0.15667	1.182000	0.42928	-0.459000	0.05422	GCT	INTS4	-	NULL	ENSG00000149262		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	119	0.00	0	C	NM_033547		77602876	77602876	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	missense	115	14.18	19	SNP	0.044	T
INTS4	92105	genome.wustl.edu	37	11	77672097	77672097	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:77672097C>A	ENST00000534064.1	-	5	593	c.559G>T	c.(559-561)Gat>Tat	p.D187Y	INTS4_ENST00000529807.1_Missense_Mutation_p.D187Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	187					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCTTCTGCATCTTTTGTGACA	0.428																																						dbGAP											0													191.0	182.0	185.0					11																	77672097		2200	4292	6492	-	-	-	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.559G>T	11.37:g.77672097C>A	ENSP00000434466:p.Asp187Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D187Y	ENST00000534064.1	37	c.559	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006201	0.74932	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	.	.	.	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.111526	0.64402	D	0.000014	T	0.50154	0.1599	N	0.19112	0.55	0.80722	D	1	P	0.52842	0.956	P	0.51101	0.659	T	0.58418	-0.7640	9	0.72032	D	0.01	-17.0153	17.7013	0.88295	0.0:1.0:0.0:0.0	.	187	Q96HW7	INT4_HUMAN	Y	187;38;187	.	ENSP00000346913:D38Y	D	-	1	0	INTS4	77349745	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.739000	0.55075	2.471000	0.83476	0.650000	0.86243	GAT	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.428	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	177	0.00	0	C	NM_033547		77672097	77672097	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	missense	150	11.76	20	SNP	1.000	A
INTS6	26512	genome.wustl.edu	37	13	51957492	51957492	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:51957492T>C	ENST00000311234.4	-	9	1625	c.1153A>G	c.(1153-1155)Aat>Gat	p.N385D	INTS6_ENST00000490542.1_Missense_Mutation_p.N69D|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.N372D|INTS6_ENST00000497989.1_Missense_Mutation_p.N207D|INTS6_ENST00000463928.1_Intron	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	385					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ACTGGATAATTGTAAGGCATC	0.393																																						dbGAP											0													175.0	157.0	163.0					13																	51957492		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1153A>G	13.37:g.51957492T>C	ENSP00000310260:p.Asn385Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.N385D	ENST00000311234.4	37	c.1153	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825563	0.71143	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000490542;ENST00000483746	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60010	-0.7346	10	0.48119	T	0.1	-9.1353	13.0691	0.59050	0.0:0.0:0.0:1.0	.	385	Q9UL03	INT6_HUMAN	D	385;372;207;69;104	ENSP00000310260:N385D;ENSP00000381187:N372D;ENSP00000419871:N207D;ENSP00000419984:N69D;ENSP00000418026:N104D	ENSP00000310260:N385D	N	-	1	0	INTS6	50855493	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.993000	0.88291	1.689000	0.51079	0.383000	0.25322	AAT	INTS6	-	NULL	ENSG00000102786		0.393	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	495	0.20	1	T	NM_012141		51957492	51957492	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	313	11.30	40	SNP	1.000	C
INTS6	26512	genome.wustl.edu	37	13	51969529	51969529	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:51969529G>A	ENST00000311234.4	-	5	992	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_Intron|INTS6_ENST00000398119.2_Missense_Mutation_p.R161W|INTS6_ENST00000497989.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.R174W	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	174	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CCAGGCAACCGCAACACTAAT	0.448																																						dbGAP											0													132.0	116.0	121.0					13																	51969529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.520C>T	13.37:g.51969529G>A	ENSP00000310260:p.Arg174Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.R174W	ENST00000311234.4	37	c.520	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.399042	0.96030	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000491189	T	0.14022	2.54	5.92	5.92	0.95590	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60010	-0.7346	10	0.87932	D	0	-10.2751	19.3088	0.94175	0.0:0.0:1.0:0.0	.	174	Q9UL03	INT6_HUMAN	W	174;161;101	ENSP00000310260:R174W	ENSP00000310260:R174W	R	-	1	2	INTS6	50867530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.668000	0.74457	2.809000	0.96659	0.655000	0.94253	CGG	INTS6	-	pfscan_VWF_A	ENSG00000102786		0.448	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	177	0.00	0	G	NM_012141		51969529	51969529	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	119	15.60	22	SNP	1.000	A
INTS8	55656	genome.wustl.edu	37	8	95837220	95837220	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:95837220G>T	ENST00000523731.1	+	2	363	c.230G>T	c.(229-231)aGa>aTa	p.R77I	INTS8_ENST00000447247.1_Missense_Mutation_p.R77I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	77					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GATAACAAGAGAAATCGTATT	0.368																																						dbGAP											0													78.0	80.0	79.0					8																	95837220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.230G>T	8.37:g.95837220G>T	ENSP00000430338:p.Arg77Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.R77I	ENST00000523731.1	37	c.230	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.014797|5.014797	0.93404|0.93404	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000521860|ENST00000522171;ENST00000523808;ENST00000519457;ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77824|0.77824	0.4188|0.4188	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.80764	.|0.994;0.994	T|T	0.79725|0.79725	-0.1683|-0.1683	5|9	.|0.87932	.|D	.|0	-20.5725|-20.5725	18.7041|18.7041	0.91631|0.91631	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;77	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	D|I	64|36;141;77;77;77	.|.	.|ENSP00000343274:R77I	E|R	+|+	3|2	2|0	INTS8|INTS8	95906396|95906396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.997000|8.997000	0.93544|0.93544	2.648000|2.648000	0.89879|0.89879	0.563000|0.563000	0.77884|0.77884	GAG|AGA	INTS8	-	NULL	ENSG00000164941		0.368	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	120	0.00	0	G	NM_017864		95837220	95837220	+1	no_errors	ENST00000523731	ensembl	human	known	69_37n	missense	65	16.67	13	SNP	1.000	T
IPMK	253430	genome.wustl.edu	37	10	59956182	59956182	+	Silent	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:59956182A>C	ENST00000373935.3	-	6	1228	c.906T>G	c.(904-906)gcT>gcG	p.A302A		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	302					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TTTTTCCATTAGCTGTGGAAC	0.373																																						dbGAP											0													99.0	100.0	100.0					10																	59956182		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.906T>G	10.37:g.59956182A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_IPK	p.A302	ENST00000373935.3	37	c.906	CCDS7250.1	10																																																																																			IPMK	-	pfam_IPK	ENSG00000151151		0.373	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPMK	HGNC	protein_coding	OTTHUMT00000048142.1	133	0.00	0	A	NM_152230		59956182	59956182	-1	no_errors	ENST00000373935	ensembl	human	known	69_37n	silent	96	11.93	13	SNP	0.000	C
IPO7	10527	genome.wustl.edu	37	11	9459445	9459445	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:9459445C>T	ENST00000379719.3	+	21	2555	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	805					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGAAAATCTTCGCTTCCCTAA	0.353																																						dbGAP											0													98.0	89.0	92.0					11																	9459445		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2413C>T	11.37:g.9459445C>T	ENSP00000369042:p.Arg805Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R805C	ENST00000379719.3	37	c.2413	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261233	0.59431	.	.	ENSG00000205339	ENST00000379719	T	0.46063	0.88	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.41824	1.3	0.80722	D	1	B	0.14012	0.009	B	0.11329	0.006	T	0.25082	-1.0142	10	0.59425	D	0.04	.	18.1413	0.89641	0.0:1.0:0.0:0.0	.	805	O95373	IPO7_HUMAN	C	805	ENSP00000369042:R805C	ENSP00000369042:R805C	R	+	1	0	IPO7	9416021	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.730000	0.84881	2.270000	0.75569	0.460000	0.39030	CGC	IPO7	-	superfamily_ARM-type_fold	ENSG00000205339		0.353	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	103	0.00	0	C	NM_006391		9459445	9459445	+1	no_errors	ENST00000379719	ensembl	human	known	69_37n	missense	139	10.32	16	SNP	1.000	T
IPO7	10527	genome.wustl.edu	37	11	9466643	9466643	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:9466643G>T	ENST00000379719.3	+	25	3161		c.e25-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTGTTTTCTAGAATCCAAAAT	0.373																																						dbGAP											0													68.0	69.0	68.0					11																	9466643		2201	4294	6495	-	-	-	SO:0001630	splice_region_variant	0			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3020-1G>T	11.37:g.9466643G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Splice_Site	SNP	-	e25-1	ENST00000379719.3	37	c.3020-1	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	g	17.22	3.334401	0.60853	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7245	0.96157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO7	9423219	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.646000	0.89796	0.558000	0.71614	.	IPO7	-	-	ENSG00000205339		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1	209	0.00	0	G	NM_006391	Intron	9466643	9466643	+1	no_errors	ENST00000379719	ensembl	human	known	69_37n	splice_site	142	12.35	20	SNP	1.000	T
IPO8	10526	genome.wustl.edu	37	12	30833446	30833446	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:30833446T>G	ENST00000256079.4	-	5	947	c.609A>C	c.(607-609)caA>caC	p.Q203H		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	203					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTTCAGAATTTGTTTCTGCA	0.373																																						dbGAP											0													95.0	99.0	98.0					12																	30833446		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.609A>C	12.37:g.30833446T>G	ENSP00000256079:p.Gln203His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q203H	ENST00000256079.4	37	c.609	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441580	0.63067	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.67523	1.05;-0.27	4.65	3.72	0.42706	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.000000	0.85682	D	0.000000	T	0.75693	0.3884	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74957	-0.3487	10	0.51188	T	0.08	-13.8439	5.6412	0.17565	0.0:0.6534:0.0:0.3466	.	203	O15397	IPO8_HUMAN	H	203;141	ENSP00000256079:Q203H;ENSP00000440979:Q141H	ENSP00000256079:Q203H	Q	-	3	2	IPO8	30724713	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.913000	0.39956	1.291000	0.44653	-0.292000	0.09595	CAA	IPO8	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold	ENSG00000133704		0.373	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	236	0.00	0	T	NM_006390		30833446	30833446	-1	no_errors	ENST00000256079	ensembl	human	known	69_37n	missense	169	13.78	27	SNP	1.000	G
IPO9	55705	genome.wustl.edu	37	1	201841956	201841956	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:201841956C>T	ENST00000361565.4	+	20	2646	c.2577C>T	c.(2575-2577)agC>agT	p.S859S		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	859					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TCCTTGCCAGCTCTGTGGCAC	0.478																																						dbGAP											0													89.0	89.0	89.0					1																	201841956		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2577-1C>T	1.37:g.201841956C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S859	ENST00000361565.4	37	c.2577	CCDS1415.1	1																																																																																			IPO9	-	superfamily_ARM-type_fold	ENSG00000198700		0.478	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	44	0.00	0	C	NM_018085	Silent	201841956	201841956	+1	no_errors	ENST00000361565	ensembl	human	known	69_37n	silent	35	42.86	27	SNP	1.000	T
IQCF5	389124	genome.wustl.edu	37	3	51907855	51907855	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:51907855C>T	ENST00000446461.1	-	2	393	c.341G>A	c.(340-342)gGc>gAc	p.G114D	RN7SL504P_ENST00000494496.2_RNA|IQCF5-AS1_ENST00000440723.1_RNA	NM_001145059.1	NP_001138531.1	A8MTL0	IQCF5_HUMAN	IQ motif containing F5	114										kidney(1)	1						TTCATAGTGGCCCTCAATAAA	0.468																																						dbGAP											0													206.0	197.0	199.0					3																	51907855		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46838.1	3p21.1	2008-10-16			ENSG00000214681	ENSG00000214681			35159	protein-coding gene	gene with protein product							Standard	NM_001145059		Approved		uc011bdx.2	A8MTL0	OTTHUMG00000156913	ENST00000446461.1:c.341G>A	3.37:g.51907855C>T	ENSP00000394653:p.Gly114Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.G114D	ENST00000446461.1	37	c.341	CCDS46838.1	3	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461440	0.43736	.	.	ENSG00000214681	ENST00000446461;ENST00000398778	T	0.38887	1.11	3.86	3.86	0.44501	.	.	.	.	.	T	0.62048	0.2396	M	0.76170	2.325	0.36947	D	0.892651	D	0.89917	1.0	D	0.97110	1.0	T	0.70011	-0.4989	9	0.72032	D	0.01	-24.5856	11.6017	0.51006	0.0:1.0:0.0:0.0	.	114	A8MTL0	IQCF5_HUMAN	D	114;120	ENSP00000394653:G114D	ENSP00000381759:G120D	G	-	2	0	IQCF5	51882895	1.000000	0.71417	0.964000	0.40570	0.156000	0.22039	3.239000	0.51360	2.446000	0.82766	0.655000	0.94253	GGC	IQCF5	-	NULL	ENSG00000214681		0.468	IQCF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF5	HGNC	protein_coding	OTTHUMT00000346593.1	518	0.19	1	C	XM_371643		51907855	51907855	-1	no_errors	ENST00000446461	ensembl	human	known	69_37n	missense	505	12.41	72	SNP	0.971	T
IQCF1	132141	genome.wustl.edu	37	3	51929353	51929353	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:51929353C>A	ENST00000310914.5	-	4	234		c.e4-1			NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTCTGGGGGCTTTCAAGAAA	0.557																																						dbGAP											0													27.0	30.0	29.0					3																	51929353		2153	4280	6433	-	-	-	SO:0001630	splice_region_variant	0			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.172-1G>T	3.37:g.51929353C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N711	Splice_Site	SNP	-	e4-1	ENST00000310914.5	37	c.172-1	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	C	9.982	1.228324	0.22542	.	.	ENSG00000173389	ENST00000310914	.	.	.	4.36	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.29857	N	0.827973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3473	0.32281	0.0:0.8947:0.0:0.1053	.	.	.	.	.	-1	.	.	.	-	.	.	IQCF1	51904393	0.746000	0.28272	0.020000	0.16555	0.098000	0.18820	1.694000	0.37752	1.445000	0.47624	0.542000	0.68232	.	IQCF1	-	-	ENSG00000173389		0.557	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	HGNC	protein_coding	OTTHUMT00000346568.1	60	0.00	0	C	NM_152397	Intron	51929353	51929353	-1	no_errors	ENST00000310914	ensembl	human	known	69_37n	splice_site	41	29.31	17	SNP	0.025	A
IQCB1	9657	genome.wustl.edu	37	3	121527848	121527848	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121527848T>G	ENST00000310864.6	-	6	616	c.402A>C	c.(400-402)gaA>gaC	p.E134D	IQCB1_ENST00000349820.6_Missense_Mutation_p.E134D	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	134					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		ATTCATCTTTTTCTTCAGCCT	0.333																																						dbGAP											0													56.0	62.0	60.0					3																	121527848		2203	4300	6503	-	-	-	SO:0001583	missense	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.402A>C	3.37:g.121527848T>G	ENSP00000311505:p.Glu134Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E134D	ENST00000310864.6	37	c.402	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	T	13.54	2.267009	0.40095	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.10005	2.92;2.92	5.54	4.4	0.53042	.	0.313499	0.38111	N	0.001806	T	0.16514	0.0397	L	0.32530	0.975	0.21933	N	0.999466	P;P	0.52842	0.956;0.906	D;B	0.65010	0.931;0.416	T	0.09796	-1.0658	10	0.23302	T	0.38	-9.6979	7.4182	0.27057	0.0:0.0971:0.0:0.9029	.	134;134	Q15051;Q15051-2	IQCB1_HUMAN;.	D	134	ENSP00000311505:E134D;ENSP00000323756:E134D	ENSP00000311505:E134D	E	-	3	2	IQCB1	123010538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.834000	0.39171	1.134000	0.42165	0.528000	0.53228	GAA	IQCB1	-	NULL	ENSG00000173226		0.333	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	372	0.00	0	T	NM_014642		121527848	121527848	-1	no_errors	ENST00000310864	ensembl	human	known	69_37n	missense	204	13.50	32	SNP	1.000	G
IQCG	84223	genome.wustl.edu	37	3	197619506	197619506	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:197619506G>A	ENST00000265239.6	-	10	1512	c.1088C>T	c.(1087-1089)gCa>gTa	p.A363V	RNU6-858P_ENST00000362436.1_RNA|IQCG_ENST00000455191.1_Missense_Mutation_p.A363V	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	363						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TACCATCTTTGCCAGGTCTTG	0.468																																						dbGAP											0													351.0	318.0	329.0					3																	197619506		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1088C>T	3.37:g.197619506G>A	ENSP00000265239:p.Ala363Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BST2|Q9HAG8	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A363V	ENST00000265239.6	37	c.1088	CCDS3331.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104991	0.77096	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.49720	0.77;0.77	5.83	5.83	0.93111	.	0.200874	0.42964	D	0.000622	T	0.60287	0.2257	M	0.73598	2.24	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	T	0.57568	-0.7789	10	0.32370	T	0.25	-14.4489	19.7786	0.96409	0.0:0.0:1.0:0.0	.	363	Q9H095	IQCG_HUMAN	V	363	ENSP00000265239:A363V;ENSP00000407736:A363V	ENSP00000265239:A363V	A	-	2	0	IQCG	199103903	1.000000	0.71417	0.731000	0.30826	0.150000	0.21749	7.419000	0.80179	2.780000	0.95670	0.644000	0.83932	GCA	IQCG	-	NULL	ENSG00000114473		0.468	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	338	0.00	0	G	NM_032263		197619506	197619506	-1	no_errors	ENST00000265239	ensembl	human	known	69_37n	missense	278	16.22	54	SNP	0.990	A
IQGAP2	10788	genome.wustl.edu	37	5	75927789	75927789	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:75927789C>T	ENST00000274364.6	+	15	2015	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	IQGAP2_ENST00000502745.1_Missense_Mutation_p.P126L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.P126L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.P132L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	573					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GACATAATCCCGGAGTGTGCT	0.363																																						dbGAP											0													118.0	115.0	116.0					5																	75927789		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1718C>T	5.37:g.75927789C>T	ENSP00000274364:p.Pro573Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.P573L	ENST00000274364.6	37	c.1718	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796768	0.31777	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000509074;ENST00000502745	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.72	4.85	0.62838	.	0.111834	0.64402	D	0.000009	T	0.44030	0.1274	M	0.76328	2.33	0.30087	N	0.808638	P;B;B;B	0.41232	0.743;0.323;0.452;0.323	B;B;B;B	0.41236	0.351;0.086;0.177;0.125	T	0.49597	-0.8923	10	0.30078	T	0.28	-2.5432	10.4734	0.44650	0.0:0.911:0.0:0.089	.	132;523;126;573	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	L	573;132;546;523;126;126;126;126;126	ENSP00000274364:P573L;ENSP00000442313:P132L;ENSP00000423672:P546L;ENSP00000421097:P523L;ENSP00000422661:P126L;ENSP00000379535:P126L;ENSP00000425351:P126L;ENSP00000426027:P126L	ENSP00000274364:P573L	P	+	2	0	IQGAP2	75963545	0.037000	0.19845	0.365000	0.25901	0.749000	0.42624	2.335000	0.43929	1.436000	0.47453	0.655000	0.94253	CCG	IQGAP2	-	NULL	ENSG00000145703		0.363	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	427	0.00	0	C	NM_006633		75927789	75927789	+1	no_errors	ENST00000274364	ensembl	human	known	69_37n	missense	319	11.14	40	SNP	0.126	T
IQGAP2	10788	genome.wustl.edu	37	5	75969815	75969815	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:75969815C>T	ENST00000274364.6	+	26	3545	c.3248C>T	c.(3247-3249)tCg>tTg	p.S1083L	IQGAP2_ENST00000502745.1_Missense_Mutation_p.S579L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.S579L|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S585L	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1083	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTGAAGAATTCGATCCATGAG	0.368																																						dbGAP											0													106.0	104.0	104.0					5																	75969815		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3248C>T	5.37:g.75969815C>T	ENSP00000274364:p.Ser1083Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.S1083L	ENST00000274364.6	37	c.3248	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482728	0.84747	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.57	5.57	0.84162	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.315444	0.34223	N	0.004159	T	0.73613	0.3609	L	0.28776	0.89	0.54753	D	0.999984	B;P;P	0.42871	0.364;0.57;0.792	B;B;B	0.42882	0.086;0.195;0.401	T	0.77159	-0.2690	10	0.72032	D	0.01	-11.9582	19.527	0.95210	0.0:1.0:0.0:0.0	.	585;579;1083	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	L	1083;585;1033;579;579	ENSP00000274364:S1083L;ENSP00000442313:S585L;ENSP00000421097:S1033L;ENSP00000379535:S579L;ENSP00000426027:S579L	ENSP00000274364:S1083L	S	+	2	0	IQGAP2	76005571	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	3.971000	0.56831	2.607000	0.88179	0.591000	0.81541	TCG	IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145703		0.368	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	531	0.19	1	C	NM_006633		75969815	75969815	+1	no_errors	ENST00000274364	ensembl	human	known	69_37n	missense	402	12.39	57	SNP	0.998	T
IQGAP2	10788	genome.wustl.edu	37	5	75973155	75973155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:75973155G>T	ENST00000274364.6	+	28	3937	c.3640G>T	c.(3640-3642)Gaa>Taa	p.E1214*	IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.E710*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.E710*|IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.E716*	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1214					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTCAATTGAAGAAATCATCAG	0.403																																						dbGAP											0													65.0	66.0	65.0					5																	75973155		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3640G>T	5.37:g.75973155G>T	ENSP00000274364:p.Glu1214*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.E1214*	ENST00000274364.6	37	c.3640	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	43	9.908205	0.99293	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	.	.	.	4.98	4.11	0.48088	.	0.205916	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.6023	13.4441	0.61129	0.0759:0.0:0.9241:0.0	.	.	.	.	X	1214;716;1164;710;710	.	ENSP00000274364:E1214X	E	+	1	0	IQGAP2	76008911	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.535000	0.98064	1.332000	0.45431	0.591000	0.81541	GAA	IQGAP2	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000145703		0.403	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	170	0.00	0	G	NM_006633		75973155	75973155	+1	no_errors	ENST00000274364	ensembl	human	known	69_37n	nonsense	153	10.00	17	SNP	1.000	T
IQSEC2	23096	genome.wustl.edu	37	X	53277315	53277315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53277315G>A	ENST00000375368.5	-	6	2733	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	IQSEC2_ENST00000396435.3_Nonsense_Mutation_p.R855*|IQSEC2_ENST00000375365.2_Nonsense_Mutation_p.R650*			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	845	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCGATGAGTCGCTCCACTTTC	0.557																																						dbGAP											0													105.0	61.0	76.0					X																	53277315		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2533C>T	X.37:g.53277315G>A	ENSP00000364517:p.Arg845*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT97|C7SDG1|O60275|Q5JUX1	Nonsense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.R855*	ENST00000375368.5	37	c.2563		X	.	.	.	.	.	.	.	.	.	.	G	39	7.714350	0.98450	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7333	0.57210	0.0:0.0:0.8357:0.1643	.	.	.	.	X	855;845;650	.	ENSP00000364514:R650X	R	-	1	2	IQSEC2	53294040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.386000	0.44380	2.445000	0.82738	0.600000	0.82982	CGA	IQSEC2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7	ENSG00000124313		0.557	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		233	0.00	0	G	XM_291345		53277315	53277315	-1	no_errors	ENST00000396435	ensembl	human	known	69_37n	nonsense	128	13.51	20	SNP	1.000	A
IQSEC3	440073	genome.wustl.edu	37	12	176541	176541	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:176541G>A	ENST00000538872.1	+	1	611	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	IQSEC3_ENST00000326261.4_Missense_Mutation_p.A165T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	165					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGCTGCCGGAGCCCTCCTTCA	0.657																																						dbGAP											0													11.0	16.0	15.0					12																	176541		1559	3559	5118	-	-	-	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.493G>A	12.37:g.176541G>A	ENSP00000437554:p.Ala165Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.A165T	ENST00000538872.1	37	c.493	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	g	10.83	1.460353	0.26248	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.10099	2.91;2.91	4.28	0.774	0.18521	.	4.638280	0.00559	N	0.000276	T	0.04998	0.0134	N	0.03115	-0.41	0.23673	N	0.997145	.	.	.	.	.	.	T	0.32613	-0.9900	8	0.12103	T	0.63	.	7.0288	0.24954	0.4217:0.0:0.5783:0.0	.	.	.	.	T	165	ENSP00000437554:A165T;ENSP00000315662:A165T	ENSP00000315662:A165T	A	+	1	0	IQSEC3	46802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.235000	0.17948	0.298000	0.22638	0.561000	0.74099	GCC	IQSEC3	-	NULL	ENSG00000120645		0.657	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	78	0.00	0	G	XM_495902		176541	176541	+1	no_errors	ENST00000326261	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.999	A
IRAK3	11213	genome.wustl.edu	37	12	66620554	66620554	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:66620554G>A	ENST00000261233.4	+	7	1126	c.705G>A	c.(703-705)gaG>gaA	p.E235E	IRAK3_ENST00000457197.2_Silent_p.E174E	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGAGACTGAGAAGTTCTGTC	0.363																																						dbGAP											0													161.0	148.0	152.0					12																	66620554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.705G>A	12.37:g.66620554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.E235	ENST00000261233.4	37	c.705	CCDS8975.1	12																																																																																			IRAK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000090376		0.363	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	309	0.00	0	G			66620554	66620554	+1	no_errors	ENST00000261233	ensembl	human	known	69_37n	silent	225	25.00	75	SNP	0.991	A
IREB2	3658	genome.wustl.edu	37	15	78755405	78755405	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:78755405C>T	ENST00000258886.8	+	3	397	c.248C>T	c.(247-249)gCc>gTc	p.A83V	IREB2_ENST00000560440.1_Missense_Mutation_p.A83V	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	83					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTTTCCCTGCCCGTGTTCTT	0.358																																					NSCLC(200;764 2208 35157 49871 50830)	dbGAP											0													212.0	198.0	203.0					15																	78755405		2196	4293	6489	-	-	-	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.248C>T	15.37:g.78755405C>T	ENSP00000258886:p.Ala83Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.A83V	ENST00000258886.8	37	c.248	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.747240	0.96882	.	.	ENSG00000136381	ENST00000258886	T	0.19250	2.16	5.87	5.87	0.94306	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.78049	2.395	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.65323	0.723;0.934	T	0.47328	-0.9126	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	83;83	P48200;Q8WVK6	IREB2_HUMAN;.	V	83	ENSP00000258886:A83V	ENSP00000258886:A83V	A	+	2	0	IREB2	76542460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.840000	0.69402	2.941000	0.99782	0.655000	0.94253	GCC	IREB2	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.358	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	569	0.00	0	C	NM_004136		78755405	78755405	+1	no_errors	ENST00000258886	ensembl	human	known	69_37n	missense	339	21.89	95	SNP	1.000	T
IRGQ	126298	genome.wustl.edu	37	19	44097102	44097102	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44097102G>T	ENST00000602269.1	-	2	1133	c.948C>A	c.(946-948)gtC>gtA	p.V316V	IRGQ_ENST00000422989.1_Silent_p.V316V|L34079.2_ENST00000594374.1_Silent_p.V29V|IRGQ_ENST00000601520.1_5'UTR			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	316	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAAGGCCTGGACCTGGGCCC	0.667																																						dbGAP											0													70.0	68.0	69.0					19																	44097102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.948C>A	19.37:g.44097102G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNP3	Silent	SNP	NULL	p.V316	ENST00000602269.1	37	c.948	CCDS33040.1	19																																																																																			IRGQ	-	NULL	ENSG00000167378		0.667	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	60	0.00	0	G	NM_001007561		44097102	44097102	-1	no_errors	ENST00000422989	ensembl	human	known	69_37n	silent	20	39.39	13	SNP	0.999	T
IRS4	8471	genome.wustl.edu	37	X	107978378	107978378	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107978378G>A	ENST00000372129.2	-	1	1273	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	399					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.F399F(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGGGTGTTACGAAGCGCCTGG	0.632																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											54.0	47.0	50.0					X																	107978378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1197C>T	X.37:g.107978378G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.F399	ENST00000372129.2	37	c.1197	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	33	0.00	0	G	NM_003604		107978378	107978378	-1	no_errors	ENST00000372129	ensembl	human	known	69_37n	silent	13	35.00	7	SNP	0.225	A
ISG20L2	81875	genome.wustl.edu	37	1	156696974	156696974	+	Missense_Mutation	SNP	C	C	A	rs138574933	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156696974C>A	ENST00000313146.6	-	1	1253	c.471G>T	c.(469-471)caG>caT	p.Q157H	ISG20L2_ENST00000368219.1_Missense_Mutation_p.Q157H|RRNAD1_ENST00000524343.1_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000368218.4_5'Flank|ISG20L2_ENST00000472824.2_5'Flank	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	157					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGTGGAGTTCTGTGGGGCAT	0.507											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													115.0	121.0	119.0					1																	156696974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.471G>T	1.37:g.156696974C>A	ENSP00000323424:p.Gln157His	Somatic	1780	WXS	Illumina GAIIx	Phase_IV	D3DVC6|Q64KA2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q157H	ENST00000313146.6	37	c.471	CCDS1153.1	1	.	.	.	.	.	.	.	.	.	.	C	5.117	0.207167	0.09704	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.23754	1.89;1.89	4.65	2.78	0.32641	.	1.477890	0.04085	N	0.310297	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.30621	-0.9972	10	0.42905	T	0.14	.	7.1004	0.25333	0.0:0.796:0.0:0.204	.	157	Q9H9L3	I20L2_HUMAN	H	157	ENSP00000323424:Q157H;ENSP00000357202:Q157H	ENSP00000323424:Q157H	Q	-	3	2	ISG20L2	154963598	0.020000	0.18652	0.020000	0.16555	0.334000	0.28698	0.066000	0.14489	0.694000	0.31654	-0.140000	0.14226	CAG	ISG20L2	-	NULL	ENSG00000143319		0.507	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	HGNC	protein_coding	OTTHUMT00000098969.1	99	0.00	0	C	NM_030980		156696974	156696974	-1	no_errors	ENST00000313146	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	0.062	A
ISL1	3670	genome.wustl.edu	37	5	50687233	50687233	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:50687233C>T	ENST00000230658.7	+	5	1476	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.F274F	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	297	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGAGCGACTTCGCCTTGCAGA	0.517																																						dbGAP											0													82.0	80.0	81.0					5																	50687233		1946	4152	6098	-	-	-	SO:0001819	synonymous_variant	0			BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.891C>T	5.37:g.50687233C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P20663|P47894	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.F297	ENST00000230658.7	37	c.891	CCDS43314.1	5																																																																																			ISL1	-	NULL	ENSG00000016082		0.517	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL1	HGNC	protein_coding	OTTHUMT00000368413.3	175	0.00	0	C	NM_002202		50687233	50687233	+1	no_errors	ENST00000230658	ensembl	human	known	69_37n	silent	105	12.50	15	SNP	1.000	T
ISPD	729920	genome.wustl.edu	37	7	16445873	16445873	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:16445873C>T	ENST00000407010.2	-	2	346	c.347G>A	c.(346-348)cGc>cAc	p.R116H	ISPD_ENST00000399310.3_Missense_Mutation_p.R116H	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	116					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CAGTGAGATGCGTTTATGCTG	0.408										Multiple Myeloma(15;0.18)																												dbGAP											0													137.0	129.0	131.0					7																	16445873		1931	4124	6055	-	-	-	SO:0001583	missense	0			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.347G>A	7.37:g.16445873C>T	ENSP00000385478:p.Arg116His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU35|H9KVB2	Missense_Mutation	SNP	pfam_ISPD_synthase	p.R116H	ENST00000407010.2	37	c.347		7	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270839	0.59540	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85955	-2.05;-2.05	5.69	4.81	0.61882	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.067807	0.52532	U	0.000063	D	0.86719	0.6000	L	0.29908	0.895	0.23113	N	0.998279	D	0.89917	1.0	D	0.71656	0.974	T	0.79614	-0.1730	10	0.87932	D	0	-0.0494	11.5989	0.50990	0.0:0.8571:0.0:0.1429	.	116	A4D126	ISPD_HUMAN	H	116	ENSP00000385478:R116H;ENSP00000382249:R116H	ENSP00000382249:R116H	R	-	2	0	ISPD	16412398	0.848000	0.29623	0.068000	0.19968	0.654000	0.38779	3.090000	0.50191	1.395000	0.46643	0.563000	0.77884	CGC	ISPD	-	pfam_ISPD_synthase	ENSG00000214960		0.408	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4	242	0.00	0	C	NM_001101426		16445873	16445873	-1	no_errors	ENST00000407010	ensembl	human	known	69_37n	missense	129	11.03	16	SNP	0.427	T
ISY1	57461	genome.wustl.edu	37	3	128852976	128852976	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:128852976T>G	ENST00000393295.3	-	9	921	c.604A>C	c.(604-606)Aag>Cag	p.K202Q	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.K202Q|ISY1_ENST00000393292.3_Missense_Mutation_p.K203T|ISY1_ENST00000273541.8_Missense_Mutation_p.K224Q|ISY1_ENST00000471497.1_Intron	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	202	Poly-Glu.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						tcctcttcctTTTCTCCTCTT	0.517																																						dbGAP											0													111.0	114.0	113.0					3																	128852976		2005	4180	6185	-	-	-	SO:0001583	missense	0				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.604A>C	3.37:g.128852976T>G	ENSP00000376973:p.Lys202Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96IL2|Q9BT05	Missense_Mutation	SNP	pfam_Isy1	p.K224Q	ENST00000393295.3	37	c.670	CCDS43149.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.41|16.41	3.115468|3.115468	0.56505|0.56505	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541|ENST00000393292	T|.	0.32753|.	1.44|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.475659|0.475659	0.23420|0.23420	N|N	0.048373|0.048373	T|T	0.16514|0.16514	0.0397|0.0397	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	D;P;D|.	0.52996|.	0.957;0.904;0.957|.	P;P;P|.	0.52672|.	0.677;0.706;0.581|.	T|T	0.18555|0.18555	-1.0333|-1.0333	10|7	0.18276|0.29301	T|T	0.48|0.29	.|.	11.7848|11.7848	0.52037|0.52037	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	224;202;202|.	Q9ULR0-2;Q9ULR0;Q9ULR0-1|.	.;ISY1_HUMAN;.|.	Q|T	202;202;224|203	ENSP00000273541:K224Q|.	ENSP00000273541:K224Q|ENSP00000376970:K203T	K|K	-|-	1|2	0|0	ISY1|ISY1	130335666|130335666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.275000|2.275000	0.43399|0.43399	2.040000|2.040000	0.60383|0.60383	0.477000|0.477000	0.44152|0.44152	AAG|AAA	ISY1	-	pfam_Isy1	ENSG00000240682		0.517	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISY1	HGNC	protein_coding	OTTHUMT00000267856.1	200	0.00	0	T	NM_020701		128852976	128852976	-1	no_errors	ENST00000273541	ensembl	human	known	69_37n	missense	231	12.17	32	SNP	1.000	G
ITFG2	55846	genome.wustl.edu	37	12	2929322	2929322	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:2929322G>A	ENST00000228799.2	+	5	616	c.477G>A	c.(475-477)gaG>gaA	p.E159E	ITFG2_ENST00000542548.1_Silent_p.E47E|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	159					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGGGAGGAGCTAGGTGAGG	0.582																																						dbGAP											0													130.0	97.0	108.0					12																	2929322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.477G>A	12.37:g.2929322G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	NULL	p.S56N	ENST00000228799.2	37	c.167	CCDS8513.1	12																																																																																			ITFG2	-	NULL	ENSG00000111203		0.582	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253091.1	448	0.00	0	G	NM_018463		2929322	2929322	+1	no_errors	ENST00000537851	ensembl	human	known	69_37n	missense	367	11.48	48	SNP	0.028	A
ITGA1	3672	genome.wustl.edu	37	5	52160905	52160905	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:52160905C>T	ENST00000282588.6	+	5	943	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	162	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCATTGCCCCTGTACAA	0.408																																						dbGAP											0													137.0	123.0	128.0					5																	52160905		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.485C>T	5.37:g.52160905C>T	ENSP00000282588:p.Ala162Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU0	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A162V	ENST00000282588.6	37	c.485	CCDS3955.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.176265	0.94846	.	.	ENSG00000213949	ENST00000282588	T	0.63580	-0.05	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	T	0.71586	-0.4548	10	0.27785	T	0.31	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	162	P56199	ITA1_HUMAN	V	162	ENSP00000282588:A162V	ENSP00000282588:A162V	A	+	2	0	ITGA1	52196662	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.804000	0.75186	2.941000	0.99782	0.655000	0.94253	GCC	ITGA1	-	NULL	ENSG00000213949		0.408	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	363	0.00	0	C	NM_181501		52160905	52160905	+1	no_errors	ENST00000282588	ensembl	human	known	69_37n	missense	292	11.71	39	SNP	1.000	T
ITGA1	3672	genome.wustl.edu	37	5	52211422	52211422	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:52211422C>T	ENST00000282588.6	+	15	2444	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	662					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGCCCTCTTCTGGTATGTAT	0.438																																						dbGAP											0													172.0	174.0	173.0					5																	52211422		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1986C>T	5.37:g.52211422C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F662	ENST00000282588.6	37	c.1986	CCDS3955.1	5																																																																																			ITGA1	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000213949		0.438	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	366	0.00	0	C	NM_181501		52211422	52211422	+1	no_errors	ENST00000282588	ensembl	human	known	69_37n	silent	283	15.27	51	SNP	1.000	T
ITGA10	8515	genome.wustl.edu	37	1	145532592	145532592	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:145532592G>A	ENST00000369304.3	+	9	1220	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	ITGA10_ENST00000539363.1_Missense_Mutation_p.A206T|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000538811.1_Missense_Mutation_p.A218T	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	349	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATTGTGGATGCACTAGGAGA	0.483																																						dbGAP											0													134.0	126.0	129.0					1																	145532592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1045G>A	1.37:g.145532592G>A	ENSP00000358310:p.Ala349Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A349T	ENST00000369304.3	37	c.1045	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219258	0.79464	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	D;D;D	0.83419	-1.72;-1.72;-1.72	5.27	4.29	0.51040	von Willebrand factor, type A (3);	0.140827	0.47093	D	0.000247	T	0.79736	0.4497	L	0.29908	0.895	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.994;0.986;0.996;0.995	T	0.74896	-0.3508	10	0.17369	T	0.5	.	13.3934	0.60836	0.0:0.1591:0.8409:0.0	.	315;218;206;349	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	T	349;315;206;218	ENSP00000358310:A349T;ENSP00000439894:A206T;ENSP00000440011:A218T	ENSP00000358310:A349T	A	+	1	0	ITGA10	144243949	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	7.372000	0.79612	2.653000	0.90120	0.561000	0.74099	GCA	ITGA10	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000143127		0.483	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	284	0.00	0	G	NM_003637		145532592	145532592	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	missense	251	10.99	31	SNP	1.000	A
ITGA11	22801	genome.wustl.edu	37	15	68642962	68642962	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:68642962G>A	ENST00000315757.7	-	9	1139	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	ITGA11_ENST00000562826.1_5'Flank|ITGA11_ENST00000423218.2_Silent_p.S351S	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	351					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TACCTTCCAGGCTGAAGATTC	0.498																																						dbGAP											0													113.0	112.0	112.0					15																	68642962		1983	4166	6149	-	-	-	SO:0001819	synonymous_variant	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1053C>T	15.37:g.68642962G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S351	ENST00000315757.7	37	c.1053	CCDS45291.1	15																																																																																			ITGA11	-	NULL	ENSG00000137809		0.498	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		150	0.00	0	G	NM_012211		68642962	68642962	-1	no_errors	ENST00000315757	ensembl	human	known	69_37n	silent	71	27.27	27	SNP	1.000	A
ITGA2	3673	genome.wustl.edu	37	5	52344491	52344491	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:52344491A>C	ENST00000296585.5	+	6	664	c.521A>C	c.(520-522)gAt>gCt	p.D174A		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	174					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCCCTCATAGATGTTGTGGTT	0.398																																						dbGAP											0													269.0	256.0	260.0					5																	52344491		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.521A>C	5.37:g.52344491A>C	ENSP00000296585:p.Asp174Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.D174A	ENST00000296585.5	37	c.521	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259957	0.80246	.	.	ENSG00000164171	ENST00000296585	T	0.77098	-1.07	5.28	5.28	0.74379	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93644	0.6967	10	0.87932	D	0	.	15.509	0.75766	1.0:0.0:0.0:0.0	.	174;174	E7ESP4;P17301	.;ITA2_HUMAN	A	174	ENSP00000296585:D174A	ENSP00000296585:D174A	D	+	2	0	ITGA2	52380248	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.702000	0.91338	2.119000	0.64992	0.528000	0.53228	GAT	ITGA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000164171		0.398	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	1127	0.09	1	A	NM_002203		52344491	52344491	+1	no_errors	ENST00000296585	ensembl	human	known	69_37n	missense	603	32.17	286	SNP	1.000	C
ITGA2B	3674	genome.wustl.edu	37	17	42458329	42458329	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:42458329G>T	ENST00000262407.5	-	13	1342	c.1311C>A	c.(1309-1311)gtC>gtA	p.V437V	ITGA2B_ENST00000377068.3_Silent_p.V122V|ITGA2B_ENST00000353281.4_Silent_p.V437V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	437					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GGCTGTCCAGGACCTGGGAGG	0.647																																						dbGAP											0													88.0	81.0	83.0					17																	42458329		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1311C>A	17.37:g.42458329G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V437	ENST00000262407.5	37	c.1311	CCDS32665.1	17																																																																																			ITGA2B	-	smart_Int_alpha_beta-p	ENSG00000005961		0.647	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	109	0.00	0	G			42458329	42458329	-1	no_errors	ENST00000262407	ensembl	human	known	69_37n	silent	60	13.04	9	SNP	0.896	T
ITGA4	3676	genome.wustl.edu	37	2	182343604	182343604	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:182343604C>A	ENST00000397033.2	+	5	1054				ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AATCTTAATTCTTCTCATGGT	0.284																																						dbGAP											0													24.0	23.0	23.0					2																	182343604		691	1551	2242	-	-	-	SO:0001627	intron_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.624+53C>A	2.37:g.182343604C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPG4|Q7Z4L6	RNA	SNP	-	NULL	ENST00000397033.2	37	NULL	CCDS42788.1	2																																																																																			ITGA4	-	-	ENSG00000115232		0.284	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	106	0.00	0	C			182343604	182343604	+1	no_errors	ENST00000478440	ensembl	human	known	69_37n	rna	50	21.88	14	SNP	0.009	A
ITGA5	3678	genome.wustl.edu	37	12	54795428	54795428	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54795428T>C	ENST00000293379.4	-	23	2589	c.2328A>G	c.(2326-2328)caA>caG	p.Q776Q	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	776					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCACGTCGCTTTGCGAGTTGT	0.602																																						dbGAP											0													164.0	135.0	145.0					12																	54795428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2328A>G	12.37:g.54795428T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96HA5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q776	ENST00000293379.4	37	c.2328	CCDS8880.1	12																																																																																			ITGA5	-	pfam_Integrin_alpha-2	ENSG00000161638		0.602	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	318	0.00	0	T			54795428	54795428	-1	no_errors	ENST00000293379	ensembl	human	known	69_37n	silent	159	24.88	53	SNP	0.989	C
ITGA5	3678	genome.wustl.edu	37	12	54798511	54798511	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54798511C>A	ENST00000293379.4	-	13	1654	c.1393G>T	c.(1393-1395)Gac>Tac	p.D465Y	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	465					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCATCCAGGTCTCGGCCTCCT	0.587											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													65.0	72.0	70.0					12																	54798511		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1393G>T	12.37:g.54798511C>A	ENSP00000293379:p.Asp465Tyr	Somatic	1003	WXS	Illumina GAIIx	Phase_IV	Q96HA5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D465Y	ENST00000293379.4	37	c.1393	CCDS8880.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529109	0.85706	.	.	ENSG00000161638	ENST00000293379	D	0.98996	-5.31	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	15.0022	0.71483	0.0:1.0:0.0:0.0	.	465	P08648	ITA5_HUMAN	Y	465	ENSP00000293379:D465Y	ENSP00000293379:D465Y	D	-	1	0	ITGA5	53084778	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.301000	0.78850	2.480000	0.83734	0.563000	0.77884	GAC	ITGA5	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000161638		0.587	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	83	0.00	0	C			54798511	54798511	-1	no_errors	ENST00000293379	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	1.000	A
ITGA7	3679	genome.wustl.edu	37	12	56096914	56096914	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:56096914C>T	ENST00000555728.1	-	2	283	c.255G>A	c.(253-255)gcG>gcA	p.A85A	ITGA7_ENST00000347027.6_Silent_p.A85A|ITGA7_ENST00000257879.6_Silent_p.A85A|ITGA7_ENST00000394230.2_Silent_p.A85A|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000553804.1_Silent_p.A85A|ITGA7_ENST00000257880.7_Silent_p.A85A|ITGA7_ENST00000394229.2_Silent_p.A85A			Q13683	ITA7_HUMAN	integrin, alpha 7	85					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGTGCGATTCGCCTGCTGCC	0.627																																						dbGAP											0													53.0	49.0	51.0					12																	56096914		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.255G>A	12.37:g.56096914C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	NULL	p.R45Q	ENST00000555728.1	37	c.134		12																																																																																			ITGA7	-	NULL	ENSG00000135424		0.627	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	68	0.00	0	C	NM_002206		56096914	56096914	-1	no_errors	ENST00000555687	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	0.982	T
ITGA8	8516	genome.wustl.edu	37	10	15617487	15617487	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15617487C>T	ENST00000378076.3	-	24	2832		c.e24+1			NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8						brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACAATGGCTACCTCATAAATA	0.393																																						dbGAP											0													151.0	137.0	142.0					10																	15617487		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2478+1G>A	10.37:g.15617487C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Splice_Site	SNP	-	e24+1	ENST00000378076.3	37	c.2478+1	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057496	0.36277	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.5	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5368	0.76011	0.0:0.8609:0.1391:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGA8	15657493	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	6.264000	0.72527	1.426000	0.47256	0.650000	0.86243	.	ITGA8	-	-	ENSG00000077943		0.393	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	326	0.00	0	C	NM_003638	Intron	15617487	15617487	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	splice_site	202	15.50	42	SNP	1.000	T
ITGA8	8516	genome.wustl.edu	37	10	15646295	15646295	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15646295C>A	ENST00000378076.3	-	20	2383	c.2030G>T	c.(2029-2031)aGa>aTa	p.R677I	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	677					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCCTTCATTTCTTGCATTTAT	0.368																																						dbGAP											0													193.0	156.0	169.0					10																	15646295		2203	4299	6502	-	-	-	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2030G>T	10.37:g.15646295C>A	ENSP00000367316:p.Arg677Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R677I	ENST00000378076.3	37	c.2030	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860757	0.51482	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.48201	0.82	5.65	4.75	0.60458	Integrin alpha-2 (1);	0.219722	0.56097	D	0.000028	T	0.44850	0.1313	L	0.56769	1.78	0.49051	D	0.999745	B;B	0.28971	0.191;0.229	B;B	0.33196	0.099;0.159	T	0.35919	-0.9769	10	0.30854	T	0.27	.	10.844	0.46733	0.0:0.8564:0.0:0.1435	.	662;677	F5H818;P53708	.;ITA8_HUMAN	I	677;662	ENSP00000367316:R677I	ENSP00000367316:R677I	R	-	2	0	ITGA8	15686301	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	0.723000	0.25939	1.531000	0.49152	0.650000	0.86243	AGA	ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.368	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	434	0.00	0	C	NM_003638		15646295	15646295	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	missense	370	11.90	50	SNP	1.000	A
ITGA8	8516	genome.wustl.edu	37	10	15648306	15648306	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15648306C>A	ENST00000378076.3	-	18	2233	c.1880G>T	c.(1879-1881)aGa>aTa	p.R627I	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	627					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATGTTTTCTCTGTAGTAGTT	0.383																																						dbGAP											0													130.0	126.0	127.0					10																	15648306		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1880G>T	10.37:g.15648306C>A	ENSP00000367316:p.Arg627Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R627I	ENST00000378076.3	37	c.1880	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240264	0.39598	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.46063	0.88	5.36	2.5	0.30297	Integrin alpha-2 (1);	0.263039	0.42821	D	0.000653	T	0.42223	0.1193	L	0.40543	1.245	0.27579	N	0.949659	D;D	0.55800	0.966;0.973	P;P	0.54815	0.648;0.761	T	0.23261	-1.0193	10	0.38643	T	0.18	.	7.6135	0.28144	0.0:0.537:0.0:0.463	.	612;627	F5H818;P53708	.;ITA8_HUMAN	I	627;612	ENSP00000367316:R627I	ENSP00000367316:R627I	R	-	2	0	ITGA8	15688312	0.262000	0.24073	0.185000	0.23176	0.441000	0.31987	1.163000	0.31798	0.262000	0.21774	0.650000	0.86243	AGA	ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.383	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	474	0.00	0	C	NM_003638		15648306	15648306	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	missense	288	16.52	57	SNP	0.158	A
ITGA8	8516	genome.wustl.edu	37	10	15686062	15686062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15686062C>A	ENST00000378076.3	-	13	1719	c.1366G>T	c.(1366-1368)Gga>Tga	p.G456*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	456					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTGAATCTCCTCTTAAAGTA	0.428																																						dbGAP											0													93.0	84.0	87.0					10																	15686062		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1366G>T	10.37:g.15686062C>A	ENSP00000367316:p.Gly456*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G456*	ENST00000378076.3	37	c.1366	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	45	11.538502	0.99573	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	456;441	.	ENSP00000367316:G456X	G	-	1	0	ITGA8	15726068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.865000	0.98341	0.655000	0.94253	GGA	ITGA8	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000077943		0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	203	0.00	0	C	NM_003638		15686062	15686062	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	nonsense	144	16.28	28	SNP	1.000	A
ITGA8	8516	genome.wustl.edu	37	10	15714660	15714660	+	Silent	SNP	C	C	T	rs142594384		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15714660C>T	ENST00000378076.3	-	7	1118	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	255			T -> M (in RHDA1; unknown pathological significance). {ECO:0000269|PubMed:24439109}.		brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGCCACTTCCGTCTGCTTTT	0.423																																						dbGAP											0													147.0	140.0	142.0					10																	15714660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.765G>A	10.37:g.15714660C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ31|Q5VX94	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T255	ENST00000378076.3	37	c.765	CCDS31155.1	10																																																																																			ITGA8	-	NULL	ENSG00000077943		0.423	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	555	0.00	0	C	NM_003638		15714660	15714660	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	silent	299	29.44	126	SNP	0.198	T
ITGA9	3680	genome.wustl.edu	37	3	37574822	37574822	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37574822C>T	ENST00000264741.5	+	14	1647	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	ITGA9_ENST00000422441.1_Missense_Mutation_p.T464M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	464					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCTGTCATTACGGTGGATGTC	0.542																																						dbGAP											0													117.0	92.0	100.0					3																	37574822		2203	4300	6503	-	-	-	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1391C>T	3.37:g.37574822C>T	ENSP00000264741:p.Thr464Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T464M	ENST00000264741.5	37	c.1391	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365195	0.61513	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.57752	0.38;0.38	6.07	6.07	0.98685	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.72625	0.978;0.75	T	0.67329	-0.5698	10	0.46703	T	0.11	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	464;464	Q13797;E9PDS3	ITA9_HUMAN;.	M	464	ENSP00000397258:T464M;ENSP00000264741:T464M	ENSP00000264741:T464M	T	+	2	0	ITGA9	37549826	1.000000	0.71417	0.199000	0.23439	0.051000	0.14879	5.931000	0.70113	2.884000	0.98904	0.655000	0.94253	ACG	ITGA9	-	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000144668		0.542	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	95	0.00	0	C	NM_002207		37574822	37574822	+1	no_errors	ENST00000264741	ensembl	human	known	69_37n	missense	88	10.20	10	SNP	0.998	T
ITGA9	3680	genome.wustl.edu	37	3	37818952	37818952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37818952G>T	ENST00000264741.5	+	24	2867	c.2611G>T	c.(2611-2613)Gaa>Taa	p.E871*	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	871					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCAAGAACAAGAAAATATCTT	0.443																																						dbGAP											0													116.0	114.0	114.0					3																	37818952		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2611G>T	3.37:g.37818952G>T	ENSP00000264741:p.Glu871*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14638	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E871*	ENST00000264741.5	37	c.2611	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.376815	0.99394	.	.	ENSG00000144668	ENST00000264741	.	.	.	5.66	5.66	0.87406	.	0.095802	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.8957	0.92423	0.0:0.0:1.0:0.0	.	.	.	.	X	871	.	ENSP00000264741:E871X	E	+	1	0	ITGA9	37793956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.917000	0.92751	2.832000	0.97577	0.655000	0.94253	GAA	ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.443	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	376	0.00	0	G	NM_002207		37818952	37818952	+1	no_errors	ENST00000264741	ensembl	human	known	69_37n	nonsense	303	15.36	55	SNP	1.000	T
ITGA9	3680	genome.wustl.edu	37	3	37821413	37821413	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37821413T>G	ENST00000264741.5	+	25	2944	c.2688T>G	c.(2686-2688)atT>atG	p.I896M	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	896					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AACCAGGAATTTCTTGCCTAA	0.368																																						dbGAP											0													115.0	116.0	116.0					3																	37821413		2203	4300	6503	-	-	-	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2688T>G	3.37:g.37821413T>G	ENSP00000264741:p.Ile896Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.I896M	ENST00000264741.5	37	c.2688	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945293	0.34283	.	.	ENSG00000144668	ENST00000264741	T	0.49432	0.78	5.91	-11.8	0.00035	Integrin alpha-2 (1);	0.349959	0.31624	N	0.007327	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.22386	0.039	T	0.06862	-1.0803	10	0.56958	D	0.05	.	5.4108	0.16346	0.2584:0.4257:0.2332:0.0827	.	896	Q13797	ITA9_HUMAN	M	896	ENSP00000264741:I896M	ENSP00000264741:I896M	I	+	3	3	ITGA9	37796417	0.000000	0.05858	0.000000	0.03702	0.964000	0.63967	-1.453000	0.02383	-2.370000	0.00602	-0.256000	0.11100	ATT	ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.368	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	177	0.00	0	T	NM_002207		37821413	37821413	+1	no_errors	ENST00000264741	ensembl	human	known	69_37n	missense	170	12.37	24	SNP	0.000	G
ITGAE	3682	genome.wustl.edu	37	17	3655078	3655078	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:3655078G>T	ENST00000263087.4	-	15	1857	c.1759C>A	c.(1759-1761)Ctc>Atc	p.L587I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	587					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCTGACTGAGATCCCCCATA	0.562																																					NSCLC(182;635 2928 8995 38788)	dbGAP											0													62.0	68.0	66.0					17																	3655078		2203	4300	6503	-	-	-	SO:0001583	missense	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1759C>A	17.37:g.3655078G>T	ENSP00000263087:p.Leu587Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,pfscan_VWF_A,prints_Integrin_alpha	p.L587I	ENST00000263087.4	37	c.1759	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	G	0.329	-0.956995	0.02267	.	.	ENSG00000083457	ENST00000263087	T	0.05081	3.5	3.89	-3.11	0.05299	.	.	.	.	.	T	0.01765	0.0056	N	0.02296	-0.605	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.46512	-0.9186	9	0.02654	T	1	.	5.6751	0.17743	0.0:0.1891:0.4287:0.3822	.	587	P38570	ITAE_HUMAN	I	587	ENSP00000263087:L587I	ENSP00000263087:L587I	L	-	1	0	ITGAE	3601827	0.947000	0.32204	0.988000	0.46212	0.599000	0.36880	0.061000	0.14366	-0.213000	0.10094	-0.385000	0.06624	CTC	ITGAE	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000083457		0.562	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	174	0.00	0	G	NM_002208		3655078	3655078	-1	no_errors	ENST00000263087	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.874	T
ITGAL	3683	genome.wustl.edu	37	16	30518050	30518050	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:30518050G>A	ENST00000356798.6	+	21	2561	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	ITGAL_ENST00000358164.5_Missense_Mutation_p.R710H|ITGAL_ENST00000433423.2_Intron|MIR4518_ENST00000580665.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	794					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.R794H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGAGCCCTGCGTCTAACTGCT	0.562																																					NSCLC(110;1462 1641 3311 33990 49495)	dbGAP											1	Substitution - Missense(1)	endometrium(1)											229.0	234.0	232.0					16																	30518050		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2381G>A	16.37:g.30518050G>A	ENSP00000349252:p.Arg794His	Somatic		WXS	Illumina GAIIx	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R794H	ENST00000356798.6	37	c.2381	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	g	10.52	1.373245	0.24857	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.45668	0.89;0.89	5.22	-2.61	0.06171	Integrin alpha-2 (1);	0.598462	0.15108	N	0.280135	T	0.30885	0.0779	L	0.59912	1.85	0.43080	D	0.99473	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.004	T	0.07009	-1.0795	10	0.31617	T	0.26	.	5.2737	0.15638	0.5558:0.1649:0.2793:0.0	.	710;794	Q96HB1;P20701	.;ITAL_HUMAN	H	794;710	ENSP00000349252:R794H;ENSP00000350886:R710H	ENSP00000349252:R794H	R	+	2	0	ITGAL	30425551	0.000000	0.05858	0.642000	0.29436	0.813000	0.45954	-1.457000	0.02374	-0.269000	0.09298	0.450000	0.29827	CGT	ITGAL	-	pfam_Integrin_alpha-2	ENSG00000005844		0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	103	0.00	0	G			30518050	30518050	+1	no_errors	ENST00000356798	ensembl	human	known	69_37n	missense	71	32.38	34	SNP	0.494	A
ITGAX	3687	genome.wustl.edu	37	16	31390960	31390960	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:31390960G>T	ENST00000268296.4	+	24	2982	c.2861G>T	c.(2860-2862)aGa>aTa	p.R954I	ITGAX_ENST00000562522.1_Missense_Mutation_p.R954I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	954					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R954K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCATGCACAGATACCAGGCA	0.577																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|skin(1)											37.0	29.0	32.0					16																	31390960		2190	4296	6486	-	-	-	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2861G>T	16.37:g.31390960G>T	ENSP00000268296:p.Arg954Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.R954I	ENST00000268296.4	37	c.2861	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880808	0.33255	.	.	ENSG00000140678	ENST00000268296	T	0.44083	0.93	4.58	2.6	0.31112	Integrin alpha-2 (1);	.	.	.	.	T	0.50650	0.1628	L	0.50333	1.59	0.09310	N	0.999997	D;P	0.89917	1.0;0.65	D;B	0.80764	0.994;0.183	T	0.32877	-0.9890	9	0.20519	T	0.43	.	6.3778	0.21517	0.2188:0.0:0.7812:0.0	.	954;139	P20702;Q8TES5	ITAX_HUMAN;.	I	954	ENSP00000268296:R954I	ENSP00000268296:R954I	R	+	2	0	ITGAX	31298461	0.902000	0.30710	0.029000	0.17559	0.237000	0.25408	1.009000	0.29886	1.274000	0.44362	0.313000	0.20887	AGA	ITGAX	-	pfam_Integrin_alpha-2	ENSG00000140678		0.577	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	81	0.00	0	G	NM_000887		31390960	31390960	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	missense	44	35.71	25	SNP	0.038	T
ITGB2	3689	genome.wustl.edu	37	21	46306786	46306786	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:46306786G>A	ENST00000397850.2	-	16	2564	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	ITGB2_ENST00000397857.1_Silent_p.I704I|ITGB2_ENST00000397852.1_Silent_p.I704I|ITGB2_ENST00000302347.5_Silent_p.I704I|ITGB2_ENST00000355153.4_Silent_p.I704I|ITGB2_ENST00000397854.3_Silent_p.I647I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	704					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCCCCCGACGATGGCGGCGA	0.637																																						dbGAP											0													53.0	49.0	50.0					21																	46306786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2112C>T	21.37:g.46306786G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.I704	ENST00000397850.2	37	c.2112	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu,prints_Integrin_bsu	ENSG00000160255		0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	27	0.00	0	G	NM_000211		46306786	46306786	-1	no_errors	ENST00000302347	ensembl	human	known	69_37n	silent	10	28.57	4	SNP	0.974	A
ITGB2	3689	genome.wustl.edu	37	21	46330268	46330268	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:46330268C>T	ENST00000397850.2	-	4	530	c.78G>A	c.(76-78)acG>acA	p.T26T	ITGB2_ENST00000397857.1_Silent_p.T26T|ITGB2_ENST00000397852.1_Silent_p.T26T|ITGB2_ENST00000302347.5_Silent_p.T26T|ITGB2_ENST00000355153.4_Silent_p.T26T|ITGB2_ENST00000397846.3_Silent_p.T26T|ITGB2_ENST00000523126.1_5'UTR|ITGB2_ENST00000397854.3_Silent_p.T26T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	26					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCTTGAACTTCGTGCACTCCT	0.662																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											55.0	50.0	52.0					21																	46330268		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.78G>A	21.37:g.46330268C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	NULL	p.E41K	ENST00000397850.2	37	c.121	CCDS13716.1	21																																																																																			ITGB2	-	NULL	ENSG00000160255		0.662	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	66	0.00	0	C	NM_000211		46330268	46330268	-1	no_errors	ENST00000523323	ensembl	human	known	69_37n	missense	36	13.95	6	SNP	0.998	T
ITIH2	3698	genome.wustl.edu	37	10	7763623	7763623	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:7763623C>T	ENST00000358415.4	+	8	916	c.750C>T	c.(748-750)tcC>tcT	p.S250S	ITIH2_ENST00000379587.4_Silent_p.S239S	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	250					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGCACGTCTCCTTCAAGCCCA	0.572																																						dbGAP											0													143.0	129.0	134.0					10																	7763623		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.750C>T	10.37:g.7763623C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.S250	ENST00000358415.4	37	c.750	CCDS31141.1	10																																																																																			ITIH2	-	NULL	ENSG00000151655		0.572	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	139	0.00	0	C	NM_002216		7763623	7763623	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	silent	84	20.56	22	SNP	1.000	T
ITIH6	347365	genome.wustl.edu	37	X	54784176	54784176	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54784176T>A	ENST00000218436.6	-	8	2360	c.2331A>T	c.(2329-2331)aaA>aaT	p.K777N		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	777	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GAGTAACACATTTCACAGTGT	0.532																																						dbGAP											0													120.0	105.0	110.0					X																	54784176		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2331A>T	X.37:g.54784176T>A	ENSP00000218436:p.Lys777Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.K777N	ENST00000218436.6	37	c.2331	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	T	8.202	0.798483	0.16397	.	.	ENSG00000102313	ENST00000218436	T	0.02737	4.18	3.6	2.39	0.29439	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.55011	0.766	T	0.46652	-0.9176	9	0.49607	T	0.09	.	4.1263	0.10129	0.0:0.1335:0.2013:0.6652	.	777	Q6UXX5	ITH5L_HUMAN	N	777	ENSP00000218436:K777N	ENSP00000218436:K777N	K	-	3	2	ITIH5L	54800901	0.284000	0.24287	0.064000	0.19789	0.099000	0.18886	0.079000	0.14782	0.265000	0.21872	0.376000	0.23039	AAA	ITIH6	-	NULL	ENSG00000102313		0.532	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	765	0.00	0	T	NM_198510		54784176	54784176	-1	no_errors	ENST00000218436	ensembl	human	known	69_37n	missense	416	27.81	161	SNP	0.048	A
ITK	3702	genome.wustl.edu	37	5	156608078	156608078	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:156608078C>A	ENST00000422843.3	+	1	242	c.90C>A	c.(88-90)ttC>ttA	p.F30L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	30	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AAGTCCGCTTCTTTGTGTTAA	0.408			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	dbGAP		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													125.0	119.0	121.0					5																	156608078		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.90C>A	5.37:g.156608078C>A	ENSP00000398655:p.Phe30Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.F30L	ENST00000422843.3	37	c.90	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	C	4.813	0.151210	0.09185	.	.	ENSG00000113263	ENST00000422843	D	0.92699	-3.09	5.57	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.115907	0.64402	D	0.000012	T	0.77232	0.4100	N	0.02539	-0.55	0.44985	D	0.998001	P	0.39216	0.664	B	0.37888	0.26	T	0.79254	-0.1879	10	0.02654	T	1	.	12.4045	0.55432	0.0:0.923:0.0:0.077	.	30	Q08881	ITK_HUMAN	L	30	ENSP00000398655:F30L	ENSP00000398655:F30L	F	+	3	2	ITK	156540656	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.260000	0.32968	1.351000	0.45789	0.655000	0.94253	TTC	ITK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113263		0.408	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	194	0.00	0	C			156608078	156608078	+1	no_errors	ENST00000422843	ensembl	human	known	69_37n	missense	141	10.19	16	SNP	1.000	A
ITLN1	55600	genome.wustl.edu	37	1	160846493	160846493	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160846493A>G	ENST00000326245.3	-	8	1018	c.903T>C	c.(901-903)cgT>cgC	p.R301R	ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	301					positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGTTATCTCACGGCTGCTGC	0.498																																						dbGAP											0													95.0	89.0	91.0					1																	160846493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.903T>C	1.37:g.160846493A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	superfamily_Fibrinogen_a/b/g_C	p.R301	ENST00000326245.3	37	c.903	CCDS1211.1	1																																																																																			ITLN1	-	NULL	ENSG00000179914		0.498	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN1	HGNC	protein_coding	OTTHUMT00000071462.1	320	0.00	0	A	NM_017625		160846493	160846493	-1	no_errors	ENST00000326245	ensembl	human	known	69_37n	silent	217	14.57	37	SNP	0.379	G
ITLN2	142683	genome.wustl.edu	37	1	160917802	160917802	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160917802C>T	ENST00000368029.3	-	7	799	c.742G>A	c.(742-744)Gtt>Att	p.V248I	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGGAACTGAACGAATCCTGCA	0.468																																						dbGAP											0													108.0	96.0	100.0					1																	160917802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.742G>A	1.37:g.160917802C>T	ENSP00000357008:p.Val248Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RR2|Q5VYI0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C	p.V248I	ENST00000368029.3	37	c.742	CCDS1212.1	1	.	.	.	.	.	.	.	.	.	.	C	1.872	-0.460050	0.04508	.	.	ENSG00000158764	ENST00000368029	T	0.15139	2.45	4.64	-0.846	0.10734	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.714446	0.10894	N	0.622324	T	0.04048	0.0113	L	0.50919	1.6	0.24662	N	0.993461	B;B	0.32101	0.356;0.356	B;B	0.23852	0.049;0.049	T	0.39961	-0.9588	10	0.19147	T	0.46	-4.9758	8.5495	0.33442	0.0:0.5282:0.0:0.4718	.	247;248	A6NI51;Q8WWU7	.;ITLN2_HUMAN	I	248	ENSP00000357008:V248I	ENSP00000357008:V248I	V	-	1	0	ITLN2	159184426	0.510000	0.26171	0.681000	0.30009	0.000000	0.00434	0.035000	0.13797	-0.132000	0.11557	-1.022000	0.02435	GTT	ITLN2	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000158764		0.468	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN2	HGNC	protein_coding	OTTHUMT00000071465.1	170	0.00	0	C	NM_080878		160917802	160917802	-1	no_errors	ENST00000368029	ensembl	human	known	69_37n	missense	121	26.95	45	SNP	0.936	T
ITLN2	142683	genome.wustl.edu	37	1	160920404	160920404	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160920404C>A	ENST00000368029.3	-	5	596	c.539G>T	c.(538-540)aGg>aTg	p.R180M	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	180	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGCGGTACCTCAGCAGGGC	0.577																																						dbGAP											0													166.0	145.0	152.0					1																	160920404		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.539G>T	1.37:g.160920404C>A	ENSP00000357008:p.Arg180Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RR2|Q5VYI0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C	p.R180M	ENST00000368029.3	37	c.539	CCDS1212.1	1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842621	0.51057	.	.	ENSG00000158764	ENST00000368029	T	0.35048	1.33	4.47	4.47	0.54385	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.56097	U	0.000031	T	0.61476	0.2350	M	0.90977	3.165	0.41187	D	0.986278	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.72440	-0.4293	10	0.87932	D	0	-7.8114	14.9558	0.71113	0.0:1.0:0.0:0.0	.	179;180	A6NI51;Q8WWU7	.;ITLN2_HUMAN	M	180	ENSP00000357008:R180M	ENSP00000357008:R180M	R	-	2	0	ITLN2	159187028	1.000000	0.71417	0.997000	0.53966	0.075000	0.17131	3.869000	0.56062	2.159000	0.67721	0.561000	0.74099	AGG	ITLN2	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000158764		0.577	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN2	HGNC	protein_coding	OTTHUMT00000071465.1	236	0.00	0	C	NM_080878		160920404	160920404	-1	no_errors	ENST00000368029	ensembl	human	known	69_37n	missense	195	12.95	29	SNP	1.000	A
ITM2C	81618	genome.wustl.edu	37	2	231740356	231740356	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:231740356C>T	ENST00000326427.6	+	3	409	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	ITM2C_ENST00000335005.6_Missense_Mutation_p.R48C|ITM2C_ENST00000409704.2_Missense_Mutation_p.R33C|ITM2C_ENST00000326407.6_Missense_Mutation_p.R95C|ITM2C_ENST00000492029.1_3'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	95					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TAACTTCTTCCGCTGTGGTGT	0.572																																						dbGAP											0													170.0	139.0	150.0					2																	231740356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.283C>T	2.37:g.231740356C>T	ENSP00000322730:p.Arg95Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.R95C	ENST00000326427.6	37	c.283	CCDS2479.1	2	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246209	0.59103	.	.	ENSG00000135916	ENST00000457215;ENST00000541852;ENST00000326427;ENST00000335005;ENST00000326407;ENST00000543957;ENST00000409704;ENST00000418408	T;T;T;T;T;T;T;T	0.45668	1.49;0.93;1.9;0.89;1.9;0.93;1.5;0.93	5.02	4.11	0.48088	.	0.224065	0.45867	D	0.000328	T	0.35885	0.0947	N	0.24115	0.695	0.41303	D	0.987051	D;D;P	0.71674	0.965;0.998;0.941	P;P;B	0.50708	0.505;0.648;0.288	T	0.06552	-1.0820	10	0.41790	T	0.15	-26.7419	10.7663	0.46295	0.1883:0.8117:0.0:0.0	.	95;48;95	Q9NQX7-3;Q9NQX7-2;Q9NQX7	.;.;ITM2C_HUMAN	C	95;33;95;48;95;33;33;33	ENSP00000390655:R95C;ENSP00000440295:R33C;ENSP00000322730:R95C;ENSP00000335121:R48C;ENSP00000322100:R95C;ENSP00000444899:R33C;ENSP00000387242:R33C;ENSP00000403257:R33C	ENSP00000322100:R95C	R	+	1	0	ITM2C	231448600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.997000	0.63921	2.616000	0.88540	0.591000	0.81541	CGC	ITM2C	-	NULL	ENSG00000135916		0.572	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2C	HGNC	protein_coding	OTTHUMT00000256954.2	58	0.00	0	C	NM_030926		231740356	231740356	+1	no_errors	ENST00000326427	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	T
ITPR1	3708	genome.wustl.edu	37	3	4808261	4808261	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:4808261C>A	ENST00000443694.2	+	42	5547	c.5547C>A	c.(5545-5547)ttC>ttA	p.F1849L	ITPR1_ENST00000423119.2_Missense_Mutation_p.F1816L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.F1849L|ITPR1_ENST00000302640.8_Missense_Mutation_p.F1849L|ITPR1_ENST00000357086.4_Missense_Mutation_p.F1816L|ITPR1_ENST00000456211.2_Missense_Mutation_p.F1801L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1864					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGAGAAATTCTTTAAGGTGT	0.413																																						dbGAP											0													82.0	81.0	81.0					3																	4808261		1876	4107	5983	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5547C>A	3.37:g.4808261C>A	ENSP00000401671:p.Phe1849Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F1849L	ENST00000443694.2	37	c.5547	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802185	0.90538	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.76	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.97066	0.9774	10	0.56958	D	0.05	.	10.9243	0.47182	0.0:0.8578:0.0:0.1422	.	1864;1816	Q14643;G5E9P1	ITPR1_HUMAN;.	L	1864;1849;1849;1816;310;1816;1801;1849	ENSP00000306253:F1849L;ENSP00000346595:F1849L;ENSP00000405934:F1816L;ENSP00000349597:F1816L;ENSP00000397885:F1801L;ENSP00000401671:F1849L	ENSP00000306253:F1849L	F	+	3	2	ITPR1	4783261	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.286000	0.51724	1.442000	0.47568	0.655000	0.94253	TTC	ITPR1	-	NULL	ENSG00000150995		0.413	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	158	0.00	0	C	NM_002222		4808261	4808261	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	156	10.86	19	SNP	1.000	A
ITPR1	3708	genome.wustl.edu	37	3	4817094	4817094	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:4817094G>A	ENST00000443694.2	+	44	6103	c.6103G>A	c.(6103-6105)Gaa>Aaa	p.E2035K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E2002K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2035K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2035K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E2002K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1987K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2050					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E1987K(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAGTCTGACCGAATACTGTCA	0.413																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											103.0	100.0	101.0					3																	4817094		1857	4089	5946	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6103G>A	3.37:g.4817094G>A	ENSP00000401671:p.Glu2035Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E2035K	ENST00000443694.2	37	c.6103	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836901	0.91117	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	5.04	5.04	0.67666	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99659	1.0993	10	0.87932	D	0	.	18.4209	0.90590	0.0:0.0:1.0:0.0	.	2050;2002	Q14643;G5E9P1	ITPR1_HUMAN;.	K	2050;2035;2035;2002;496;2002;1987;2035	ENSP00000306253:E2035K;ENSP00000346595:E2035K;ENSP00000405934:E2002K;ENSP00000349597:E2002K;ENSP00000397885:E1987K;ENSP00000401671:E2035K	ENSP00000306253:E2035K	E	+	1	0	ITPR1	4792094	1.000000	0.71417	0.700000	0.30305	0.489000	0.33432	9.772000	0.98984	2.349000	0.79799	0.655000	0.94253	GAA	ITPR1	-	pfam_RIH_assoc-dom	ENSG00000150995		0.413	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	127	0.78	1	G	NM_002222		4817094	4817094	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	83	25.66	29	SNP	1.000	A
ITPR2	3709	genome.wustl.edu	37	12	26551858	26551858	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:26551858G>A	ENST00000381340.3	-	54	8063	c.7647C>T	c.(7645-7647)agC>agT	p.S2549S	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2549					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTGTTTTTCGCTTCTGAGAT	0.333																																						dbGAP											0													98.0	88.0	91.0					12																	26551858		1822	4074	5896	-	-	-	SO:0001819	synonymous_variant	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7647C>T	12.37:g.26551858G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.S2549	ENST00000381340.3	37	c.7647	CCDS41764.1	12																																																																																			ITPR2	-	NULL	ENSG00000123104		0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	517	0.00	0	G	NM_002223		26551858	26551858	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	silent	430	11.84	58	SNP	1.000	A
ITSN1	6453	genome.wustl.edu	37	21	35254747	35254747	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:35254747A>C	ENST00000381318.3	+	35	4830	c.4542A>C	c.(4540-4542)aaA>aaC	p.K1514N	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.K1509N|ITSN1_ENST00000437442.2_Missense_Mutation_p.K1453N|ITSN1_ENST00000381285.4_Missense_Mutation_p.K1514N|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1514	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCAGTATAAAATGTATAAAA	0.438																																						dbGAP											0													47.0	48.0	48.0					21																	35254747		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4542A>C	21.37:g.35254747A>C	ENSP00000370719:p.Lys1514Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K1514N	ENST00000381318.3	37	c.4542	CCDS33545.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.21|18.21	3.572877|3.572877	0.65765|0.65765	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442|ENST00000381284	T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09|.	5.8|5.8	0.983|0.983	0.19767|0.19767	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.064350|.	0.64402|.	D|.	0.000011|.	T|T	0.60104|0.60104	0.2243|0.2243	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63880|.	0.993;0.98;0.98|.	P;P;P|.	0.61201|.	0.885;0.782;0.782|.	T|T	0.54476|0.54476	-0.8288|-0.8288	10|5	0.45353|.	T|.	0.12|.	.|.	8.9019|8.9019	0.35499|0.35499	0.6413:0.0:0.3587:0.0|0.6413:0.0:0.3587:0.0	.|.	1453;1509;1514|.	A8CTY3;A8CTX8;Q15811|.	.;.;ITSN1_HUMAN|.	N|H	1514;1514;1443;1509;1453|194	ENSP00000370719:K1514N;ENSP00000370685:K1514N;ENSP00000382301:K1509N;ENSP00000387377:K1453N|.	ENSP00000370685:K1514N|.	K|N	+|+	3|1	2|0	ITSN1|ITSN1	34176617|34176617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	1.111000|1.111000	0.31159|0.31159	0.149000|0.149000	0.19098|0.19098	0.533000|0.533000	0.62120|0.62120	AAA|AAT	ITSN1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000205726		0.438	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	71	0.00	0	A	NM_003024		35254747	35254747	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	80	29.20	33	SNP	0.997	C
IVD	3712	genome.wustl.edu	37	15	40710374	40710374	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40710374G>A	ENST00000249760.2	+	12	1527	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	IVD_ENST00000479013.2_Missense_Mutation_p.R368Q|IVD_ENST00000487418.2_Missense_Mutation_p.R398Q	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	395					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	CGCTTTCTTCGAGATGCCAAG	0.522																																					GBM(31;293 617 7486 32527 34655)	dbGAP											0													98.0	93.0	95.0					15																	40710374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.1184G>A	15.37:g.40710374G>A	ENSP00000249760:p.Arg395Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.R398Q	ENST00000249760.2	37	c.1193		15	.	.	.	.	.	.	.	.	.	.	G	37	6.162127	0.97338	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.97831	-4.56;-4.56;-4.56	5.15	5.15	0.70609	Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98329	1.0532	10	0.87932	D	0	.	18.6251	0.91334	0.0:0.0:1.0:0.0	.	395;368	P26440;B3KVI7	IVD_HUMAN;.	Q	395;368;398	ENSP00000249760:R395Q;ENSP00000417990:R368Q;ENSP00000418397:R398Q	ENSP00000249760:R395Q	R	+	2	0	IVD	38497666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.680000	0.98651	2.381000	0.81170	0.491000	0.48974	CGA	IVD	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000128928		0.522	IVD-201	KNOWN	basic|appris_candidate	protein_coding	IVD	HGNC	protein_coding		131	0.00	0	G			40710374	40710374	+1	no_errors	ENST00000487418	ensembl	human	known	69_37n	missense	97	10.19	11	SNP	1.000	A
JAK3	3718	genome.wustl.edu	37	19	17950393	17950393	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:17950393C>T	ENST00000527670.1	-	9	1363	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	JAK3_ENST00000534444.1_Missense_Mutation_p.R445Q|JAK3_ENST00000458235.1_Missense_Mutation_p.R445Q|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	445	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GCTGTGGGGTCGGCTGAGGCC	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													36.0	31.0	33.0					19																	17950393		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1334G>A	19.37:g.17950393C>T	ENSP00000432511:p.Arg445Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom	p.R445Q	ENST00000527670.1	37	c.1334	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	4.419	0.077400	0.08485	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.26518	1.73;1.73;1.73	3.7	-1.12	0.09808	SH2 motif (2);	0.386456	0.26297	N	0.025183	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23891	0.093;0.085;0.023	B;B;B	0.15870	0.011;0.014;0.003	T	0.14811	-1.0459	10	0.42905	T	0.14	-4.1589	6.6306	0.22855	0.0:0.511:0.0:0.489	.	445;445;445	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	Q	445	ENSP00000391676:R445Q;ENSP00000432511:R445Q;ENSP00000436421:R445Q	ENSP00000413248:R445Q	R	-	2	0	JAK3	17811393	0.000000	0.05858	0.098000	0.21074	0.002000	0.02628	-0.150000	0.10189	-0.030000	0.13804	-0.463000	0.05309	CGA	JAK3	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105639		0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	76	0.00	0	C	NM_000215		17950393	17950393	-1	no_errors	ENST00000458235	ensembl	human	known	69_37n	missense	38	30.91	17	SNP	0.003	T
JAKMIP2	9832	genome.wustl.edu	37	5	147019299	147019299	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:147019299G>A	ENST00000265272.5	-	10	1893	c.1426C>T	c.(1426-1428)Cta>Tta	p.L476L	JAKMIP2_ENST00000333010.6_Silent_p.L434L|JAKMIP2_ENST00000507386.1_Silent_p.L476L	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	476						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAATCTTAGTTCAGATTCT	0.408																																						dbGAP											0													199.0	201.0	200.0					5																	147019299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1426C>T	5.37:g.147019299G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	NULL	p.L476	ENST00000265272.5	37	c.1426	CCDS4285.1	5																																																																																			JAKMIP2	-	NULL	ENSG00000176049		0.408	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	228	0.00	0	G	NM_014790		147019299	147019299	-1	no_errors	ENST00000265272	ensembl	human	known	69_37n	silent	153	23.88	48	SNP	1.000	A
JAM3	83700	genome.wustl.edu	37	11	134014272	134014272	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:134014272C>T	ENST00000299106.4	+	4	552	c.393C>T	c.(391-393)atC>atT	p.I131I	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Silent_p.I176I			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	131					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AGATTGTGATCGAGTTAACTG	0.468																																						dbGAP											0													183.0	149.0	160.0					11																	134014272		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.393C>T	11.37:g.134014272C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.I176	ENST00000299106.4	37	c.528	CCDS8494.2	11	.	.	.	.	.	.	.	.	.	.	C	6.761	0.509346	0.12883	.	.	ENSG00000166086	ENST00000534549	.	.	.	5.03	0.193	0.15139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6493	0.34025	0.0:0.5996:0.0:0.4004	.	.	.	.	X	76	.	.	R	+	1	2	JAM3	133519482	0.210000	0.23517	0.997000	0.53966	0.670000	0.39368	0.099000	0.15210	0.002000	0.14630	-0.367000	0.07326	CGA	JAM3	-	smart_Ig_sub	ENSG00000166086		0.468	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	JAM3	HGNC	protein_coding	OTTHUMT00000393303.4	232	0.00	0	C	NM_032801		134014272	134014272	+1	no_errors	ENST00000529443	ensembl	human	known	69_37n	silent	118	31.40	54	SNP	0.559	T
JAZF1	221895	genome.wustl.edu	37	7	27934996	27934996	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:27934996T>G	ENST00000283928.5	-	3	393	c.228A>C	c.(226-228)ctA>ctC	p.L76L		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	76					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCTTCTTCTTTAGGGACTCCT	0.527			T	SUZ12	endometrial stromal tumours																																	dbGAP		Dom	yes		7	7p15.2-p15.1	221895	juxtaposed with another zinc finger gene 1		M	0													69.0	66.0	67.0					7																	27934996		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.228A>C	7.37:g.27934996T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D195|Q8N3L7	Nonstop_Mutation	SNP	smart_Znf_C2H2-like	p.*63S	ENST00000283928.5	37	c.188	CCDS5416.1	7	.	.	.	.	.	.	.	.	.	.	T	10.55	1.382022	0.24944	.	.	ENSG00000153814	ENST00000427814	.	.	.	5.46	-3.14	0.05250	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1204	6.1015	0.20049	0.0:0.2776:0.2411:0.4813	.	.	.	.	S	63	.	.	X	-	2	2	JAZF1	27901521	0.973000	0.33851	0.967000	0.41034	0.998000	0.95712	0.198000	0.17217	-0.708000	0.05015	0.533000	0.62120	TAA	JAZF1	-	NULL	ENSG00000153814		0.527	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAZF1	HGNC	protein_coding	OTTHUMT00000250382.2	51	0.00	0	T	NM_175061		27934996	27934996	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427814	ensembl	human	putative	69_37n	nonstop	36	16.28	7	SNP	0.990	G
JMJD1C	221037	genome.wustl.edu	37	10	64944409	64944409	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:64944409A>C	ENST00000399262.2	-	21	7138	c.6920T>G	c.(6919-6921)tTt>tGt	p.F2307C	JMJD1C_ENST00000542921.1_Missense_Mutation_p.F2125C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.F2070C|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2307	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGACGTACAAAAAATCCTGG	0.348																																						dbGAP											0													99.0	97.0	97.0					10																	64944409		1833	4079	5912	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6920T>G	10.37:g.64944409A>C	ENSP00000382204:p.Phe2307Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.F2307C	ENST00000399262.2	37	c.6920	CCDS41532.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.516360|4.516360	0.85495|0.85495	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921|ENST00000327520	D;D;D|.	0.84589|.	-1.87;-1.87;-1.87|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69700|0.69700	0.3140|0.3140	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;P|.	0.89917|.	1.0;1.0;0.575|.	D;D;B|.	0.91635|.	0.999;0.999;0.348|.	T|T	0.67325|0.67325	-0.5699|-0.5699	10|5	0.72032|.	D|.	0.01|.	-19.8029|-19.8029	16.0836|16.0836	0.81023|0.81023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2125;2307;2125|.	B7ZLC8;Q15652;A0T124|.	.;JHD2C_HUMAN;.|.	C|V	2307;2070;2125|854	ENSP00000382204:F2307C;ENSP00000384990:F2070C;ENSP00000444682:F2125C|.	ENSP00000382204:F2307C|.	F|L	-|-	2|1	0|2	JMJD1C|JMJD1C	64614415|64614415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	9.307000|9.307000	0.96226|0.96226	2.283000|2.283000	0.76528|0.76528	0.477000|0.477000	0.44152|0.44152	TTT|TTG	JMJD1C	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000171988		0.348	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	262	0.00	0	A	NM_004241		64944409	64944409	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	179	12.68	26	SNP	1.000	C
JMJD1C	221037	genome.wustl.edu	37	10	64967384	64967384	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:64967384C>T	ENST00000399262.2	-	10	4263	c.4045G>A	c.(4045-4047)Gga>Aga	p.G1349R	JMJD1C_ENST00000542921.1_Missense_Mutation_p.G1167R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.G1130R|JMJD1C_ENST00000399251.1_Missense_Mutation_p.G1130R	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1349					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAGTTTCTCCGGCTTCTGCT	0.423																																						dbGAP											0													127.0	117.0	120.0					10																	64967384		1859	4101	5960	-	-	-	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4045G>A	10.37:g.64967384C>T	ENSP00000382204:p.Gly1349Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G1349R	ENST00000399262.2	37	c.4045	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	4.372	0.068559	0.08436	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.50277	1.09;0.75;2.69;1.09	5.94	3.6	0.41247	.	0.192563	0.46758	D	0.000277	T	0.14570	0.0352	N	0.01576	-0.805	0.29272	N	0.870595	B;B;B	0.16396	0.009;0.017;0.009	B;B;B	0.08055	0.002;0.003;0.002	T	0.32613	-0.9900	10	0.06236	T	0.91	-10.3513	6.1199	0.20148	0.0:0.3527:0.511:0.1363	.	890;1349;1167	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	R	1349;1130;1130;1167	ENSP00000382204:G1349R;ENSP00000384990:G1130R;ENSP00000382195:G1130R;ENSP00000444682:G1167R	ENSP00000382195:G1130R	G	-	1	0	JMJD1C	64637390	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	0.751000	0.26348	2.807000	0.96579	0.591000	0.81541	GGA	JMJD1C	-	NULL	ENSG00000171988		0.423	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	111	0.00	0	C	NM_004241		64967384	64967384	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	missense	77	31.25	35	SNP	0.998	T
JMJD1C	221037	genome.wustl.edu	37	10	64968092	64968092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:64968092C>A	ENST00000399262.2	-	10	3555	c.3337G>T	c.(3337-3339)Gaa>Taa	p.E1113*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.E931*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.E894*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.E894*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1113					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTGAAACTTCTTTGGATGGG	0.398																																						dbGAP											0													173.0	164.0	167.0					10																	64968092		1893	4103	5996	-	-	-	SO:0001587	stop_gained	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3337G>T	10.37:g.64968092C>A	ENSP00000382204:p.Glu1113*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E1113*	ENST00000399262.2	37	c.3337	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	48	14.659802	0.99805	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.59	5.59	0.84812	.	0.051730	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.4145	19.5828	0.95475	0.0:1.0:0.0:0.0	.	.	.	.	X	1113;894;894;931	.	ENSP00000382195:E894X	E	-	1	0	JMJD1C	64638098	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	7.810000	0.86072	2.621000	0.88768	0.563000	0.77884	GAA	JMJD1C	-	NULL	ENSG00000171988		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	141	0.00	0	C	NM_004241		64968092	64968092	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	nonsense	85	33.07	42	SNP	1.000	A
JMJD1C	221037	genome.wustl.edu	37	10	64974825	64974825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:64974825G>A	ENST00000399262.2	-	8	1320	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.R186*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.R149*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.R149*|JMJD1C_ENST00000489372.2_5'Flank	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	368					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGTCAGTTCGAAGTCTTTTC	0.323																																						dbGAP											0													64.0	59.0	61.0					10																	64974825		1801	4064	5865	-	-	-	SO:0001587	stop_gained	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1102C>T	10.37:g.64974825G>A	ENSP00000382204:p.Arg368*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R368*	ENST00000399262.2	37	c.1102	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	42	9.720204	0.99247	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.7	4.78	0.61160	.	0.288884	0.28332	U	0.015739	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5121	15.498	0.75673	0.0:0.0:0.8505:0.1495	.	.	.	.	X	368;149;149;186	.	ENSP00000382195:R149X	R	-	1	2	JMJD1C	64644831	1.000000	0.71417	0.958000	0.39756	0.998000	0.95712	3.027000	0.49697	1.345000	0.45676	0.561000	0.74099	CGA	JMJD1C	-	NULL	ENSG00000171988		0.323	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	270	0.00	0	G	NM_004241		64974825	64974825	-1	no_errors	ENST00000399262	ensembl	human	known	69_37n	nonsense	165	19.90	41	SNP	0.997	A
JMY	133746	genome.wustl.edu	37	5	78533274	78533274	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:78533274G>A	ENST00000396137.4	+	1	1263	c.801G>A	c.(799-801)tgG>tgA	p.W267*	DMGDH_ENST00000520388.1_5'Flank	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	267					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGGGCATGTGGACTGTGCTGT	0.647																																						dbGAP											0													59.0	67.0	64.0					5																	78533274		2042	4166	6208	-	-	-	SO:0001587	stop_gained	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.801G>A	5.37:g.78533274G>A	ENSP00000379441:p.Trp267*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	pfscan_WH2_dom	p.W267*	ENST00000396137.4	37	c.801	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	43	10.326719	0.99383	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8706	0.88810	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000282259:W267X	W	+	3	0	JMY	78569030	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.139000	0.94554	2.210000	0.71456	0.563000	0.77884	TGG	JMY	-	NULL	ENSG00000152409		0.647	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	46	0.00	0	G	NM_152405		78533274	78533274	+1	no_errors	ENST00000396137	ensembl	human	known	69_37n	nonsense	18	25.00	6	SNP	1.000	A
JMY	133746	genome.wustl.edu	37	5	78573890	78573890	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:78573890G>A	ENST00000396137.4	+	2	1652	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	397					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GCCATGCTACGAAGACAGCAG	0.443																																						dbGAP											0													123.0	116.0	118.0					5																	78573890		1890	4117	6007	-	-	-	SO:0001583	missense	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1190G>A	5.37:g.78573890G>A	ENSP00000379441:p.Arg397Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.R397Q	ENST00000396137.4	37	c.1190	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218690	0.58560	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.08008	3.14	5.33	5.33	0.75918	.	0.136114	0.45867	D	0.000324	T	0.13415	0.0325	M	0.68952	2.095	0.44424	D	0.997341	P	0.48162	0.906	B	0.41646	0.362	T	0.13791	-1.0496	10	0.21014	T	0.42	.	19.0752	0.93158	0.0:0.0:1.0:0.0	.	397	Q8N9B5	JMY_HUMAN	Q	397	ENSP00000379441:R397Q	ENSP00000282259:R397Q	R	+	2	0	JMY	78609646	1.000000	0.71417	0.842000	0.33263	0.975000	0.68041	7.190000	0.77755	2.521000	0.84997	0.644000	0.83932	CGA	JMY	-	NULL	ENSG00000152409		0.443	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	158	0.00	0	G	NM_152405		78573890	78573890	+1	no_errors	ENST00000396137	ensembl	human	known	69_37n	missense	109	10.57	13	SNP	0.993	A
JMY	133746	genome.wustl.edu	37	5	78586970	78586970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:78586970C>T	ENST00000396137.4	+	4	1837	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	459					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGATCGAATGCGAGCTGATCA	0.358																																						dbGAP											0													67.0	63.0	64.0					5																	78586970		1839	4087	5926	-	-	-	SO:0001587	stop_gained	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1375C>T	5.37:g.78586970C>T	ENSP00000379441:p.Arg459*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	pfscan_WH2_dom	p.R459*	ENST00000396137.4	37	c.1375	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	C	42	9.715321	0.99245	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.31	4.36	0.52297	.	0.072710	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.8873	0.79261	0.1637:0.8363:0.0:0.0	.	.	.	.	X	459	.	ENSP00000282259:R459X	R	+	1	2	JMY	78622726	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.195000	0.32186	2.472000	0.83506	0.555000	0.69702	CGA	JMY	-	NULL	ENSG00000152409		0.358	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	259	0.00	0	C	NM_152405		78586970	78586970	+1	no_errors	ENST00000396137	ensembl	human	known	69_37n	nonsense	156	27.52	60	SNP	1.000	T
JMY	133746	genome.wustl.edu	37	5	78596095	78596095	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:78596095G>T	ENST00000396137.4	+	5	2109	c.1647G>T	c.(1645-1647)gaG>gaT	p.E549D	JMY_ENST00000412001.1_3'UTR	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	549	Interaction with p300/EP300. {ECO:0000250}.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGTGTGAAGAGTTACTATTGA	0.363																																						dbGAP											0													128.0	121.0	123.0					5																	78596095		1896	4122	6018	-	-	-	SO:0001583	missense	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1647G>T	5.37:g.78596095G>T	ENSP00000379441:p.Glu549Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.E549D	ENST00000396137.4	37	c.1647	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343354	0.82022	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.08720	3.06	5.1	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.19725	0.0474	M	0.78049	2.395	0.53688	D	0.999975	D	0.56521	0.976	P	0.52066	0.689	T	0.01159	-1.1433	10	0.87932	D	0	.	10.9794	0.47486	0.1524:0.0:0.8476:0.0	.	549	Q8N9B5	JMY_HUMAN	D	549	ENSP00000379441:E549D	ENSP00000282259:E549D	E	+	3	2	JMY	78631851	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.525000	0.53502	1.279000	0.44446	0.557000	0.71058	GAG	JMY	-	NULL	ENSG00000152409		0.363	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	211	0.00	0	G	NM_152405		78596095	78596095	+1	no_errors	ENST00000396137	ensembl	human	known	69_37n	missense	162	21.74	45	SNP	1.000	T
JPH1	56704	genome.wustl.edu	37	8	75156989	75156989	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:75156989G>A	ENST00000342232.4	-	4	1720	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	560					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGGGTGCTGGGGGGCGTTCA	0.592																																						dbGAP											0													82.0	77.0	78.0					8																	75156989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1680C>T	8.37:g.75156989G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTZ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.P560	ENST00000342232.4	37	c.1680	CCDS6217.1	8																																																																																			JPH1	-	pirsf_Junctophilin	ENSG00000104369		0.592	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	176	0.56	1	G			75156989	75156989	-1	no_errors	ENST00000342232	ensembl	human	known	69_37n	silent	102	10.34	12	SNP	0.998	A
KAL1	3730	genome.wustl.edu	37	X	8565079	8565079	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:8565079G>A	ENST00000262648.3	-	4	686	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	179					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CCTTACCTTTGTACAGAGTCT	0.488																																						dbGAP											0													64.0	45.0	51.0					X																	8565079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.537C>T	X.37:g.8565079G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPF8	Silent	SNP	pfam_Fibronectin_type3,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core	p.Y179	ENST00000262648.3	37	c.537	CCDS14130.1	X																																																																																			KAL1	-	superfamily_Fibronectin_type3	ENSG00000011201		0.488	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1	130	0.00	0	G	NM_000216		8565079	8565079	-1	no_errors	ENST00000262648	ensembl	human	known	69_37n	silent	67	15.19	12	SNP	1.000	A
KANK1	23189	genome.wustl.edu	37	9	730108	730108	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:730108G>T	ENST00000382303.1	+	8	3408	c.2756G>T	c.(2755-2757)aGc>aTc	p.S919I	KANK1_ENST00000382297.2_Missense_Mutation_p.S919I|KANK1_ENST00000382293.3_Missense_Mutation_p.S761I|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	919					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGTCCCTTAAGCTCCCAGACA	0.512																																						dbGAP											0													66.0	58.0	61.0					9																	730108		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2756G>T	9.37:g.730108G>T	ENSP00000371740:p.Ser919Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S919I	ENST00000382303.1	37	c.2756	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752311	0.15778	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.17370	2.28;2.28;2.28	4.74	-3.33	0.04958	.	0.872657	0.10045	N	0.723028	T	0.10121	0.0248	N	0.22421	0.69	0.21416	N	0.999691	B;B	0.27559	0.001;0.181	B;B	0.27500	0.001;0.08	T	0.34104	-0.9842	10	0.72032	D	0.01	.	6.9766	0.24679	0.4709:0.1235:0.4056:0.0	.	919;919	Q5W0W1;Q14678	.;KANK1_HUMAN	I	919;919;919;761	ENSP00000371740:S919I;ENSP00000371734:S919I;ENSP00000371730:S761I	ENSP00000346479:S919I	S	+	2	0	KANK1	720108	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.074000	0.11450	-0.438000	0.07232	0.655000	0.94253	AGC	KANK1	-	NULL	ENSG00000107104		0.512	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	159	0.00	0	G	NM_015158		730108	730108	+1	no_errors	ENST00000382297	ensembl	human	known	69_37n	missense	105	27.08	39	SNP	0.000	T
KANK3	256949	genome.wustl.edu	37	19	8389618	8389618	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:8389618C>T	ENST00000593649.1	-	9	2244	c.2179G>A	c.(2179-2181)Gcg>Acg	p.A727T	KANK3_ENST00000330915.3_Missense_Mutation_p.A727T			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	727										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCCCATCCGCATCCTGCGCA	0.652																																						dbGAP											0													57.0	46.0	50.0					19																	8389618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2179G>A	19.37:g.8389618C>T	ENSP00000470728:p.Ala727Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NZI1|Q6ZQR3|Q8IUV2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A727T	ENST00000593649.1	37	c.2179		19	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680911	0.68042	.	.	ENSG00000186994	ENST00000330915	T	0.65916	-0.18	4.67	4.67	0.58626	.	.	.	.	.	T	0.53965	0.1829	N	0.14661	0.345	0.47374	D	0.999409	P	0.51933	0.949	P	0.49085	0.6	T	0.58020	-0.7710	9	0.41790	T	0.15	-10.38	16.3	0.82806	0.0:1.0:0.0:0.0	.	727	Q6NY19-2	.	T	727	ENSP00000328923:A727T	ENSP00000328923:A727T	A	-	1	0	KANK3	8295618	1.000000	0.71417	0.826000	0.32828	0.091000	0.18340	5.785000	0.68998	2.416000	0.81992	0.561000	0.74099	GCG	KANK3	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000186994		0.652	KANK3-002	KNOWN	basic	protein_coding	KANK3	HGNC	protein_coding	OTTHUMT00000461379.1	28	0.00	0	C	NM_198471		8389618	8389618	-1	no_errors	ENST00000330915	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	1.000	T
KANSL1L	151050	genome.wustl.edu	37	2	210894636	210894636	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:210894636C>A	ENST00000281772.9	-	10	2425	c.2162G>T	c.(2161-2163)aGa>aTa	p.R721I	RP11-260M2.1_ENST00000608095.1_RNA|AC007038.7_ENST00000452057.1_RNA|KANSL1L_ENST00000418791.1_Missense_Mutation_p.R679I	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	721						histone acetyltransferase complex (GO:0000123)											AAGTTTAGTTCTTTCTCCTGC	0.333																																						dbGAP											0													123.0	119.0	120.0					2																	210894636		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2162G>T	2.37:g.210894636C>A	ENSP00000281772:p.Arg721Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	NULL	p.R721I	ENST00000281772.9	37	c.2162	CCDS33370.1	2	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641589	0.67244	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.5	2.74	0.32292	.	0.228496	0.29178	N	0.012911	T	0.61652	0.2364	L	0.56769	1.78	0.80722	D	1	P;P	0.50617	0.937;0.937	P;P	0.53809	0.735;0.735	T	0.62291	-0.6885	9	0.72032	D	0.01	.	8.5509	0.33451	0.0:0.7625:0.0:0.2375	.	679;721	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	I	721;679	.	ENSP00000281772:R721I	R	-	2	0	C2orf67	210602881	1.000000	0.71417	0.981000	0.43875	0.878000	0.50629	1.062000	0.30555	0.705000	0.31890	0.655000	0.94253	AGA	KANSL1L	-	NULL	ENSG00000144445		0.333	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	236	0.00	0	C	NM_152519		210894636	210894636	-1	no_errors	ENST00000281772	ensembl	human	known	69_37n	missense	171	17.39	36	SNP	0.992	A
KANSL1L	151050	genome.wustl.edu	37	2	211018234	211018234	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:211018234C>A	ENST00000281772.9	-	2	1336	c.1073G>T	c.(1072-1074)aGa>aTa	p.R358I	KANSL1L_ENST00000418791.1_Missense_Mutation_p.R358I|KANSL1L_ENST00000457374.1_Missense_Mutation_p.R358I|KANSL1L_ENST00000452086.1_Missense_Mutation_p.R358I|KANSL1L_ENST00000429908.2_5'Flank	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	358						histone acetyltransferase complex (GO:0000123)											CACATTTTTTCTAAGGGTATA	0.368																																						dbGAP											0													72.0	71.0	71.0					2																	211018234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1073G>T	2.37:g.211018234C>A	ENSP00000281772:p.Arg358Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Nonsense_Mutation	SNP	NULL	p.E32*	ENST00000281772.9	37	c.94	CCDS33370.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.00|18.00|18.00	3.524796|3.524796|3.524796	0.64747|0.64747|0.64747	.|.|.	.|.|.	ENSG00000144445|ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.|.	.|.|.	.|.|.	5.95|5.95|5.95	5.07|5.07|5.07	0.68467|0.68467|0.68467	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000004|.	.|T|.	.|0.69106|.	.|0.3074|.	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|D;D;D;D|.	.|0.89917|.	.|1.0;1.0;0.999;0.999|.	.|D;D;D;D|.	.|0.87578|.	.|0.992;0.998;0.985;0.996|.	.|T|.	.|0.66164|.	.|-0.5992|.	.|9|.	.|0.66056|.	.|D|.	.|0.02|.	.|.|.	14.246|14.246|14.246	0.65988|0.65988|0.65988	0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718	.|.|.	.|358;358;358;358|.	.|A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.|.;.;.;CB067_HUMAN|.	X|I|Y	32;77|358|52	.|.|.	.|ENSP00000281772:R358I|.	E|R|X	-|-|-	1|2|3	0|0|2	C2orf67|C2orf67|C2orf67	210726479|210726479|210726479	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.970000|0.970000|0.970000	0.65996|0.65996|0.65996	1.196000|1.196000|1.196000	0.32198|0.32198|0.32198	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAA|AGA|TAG	KANSL1L	-	NULL	ENSG00000144445		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL1L	HGNC	protein_coding	OTTHUMT00000336633.3	109	0.00	0	C	NM_152519		211018234	211018234	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000438563	ensembl	human	putative	69_37n	nonsense	51	12.07	7	SNP	1.000	A
KAT6A	7994	genome.wustl.edu	37	8	41798386	41798386	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:41798386G>T	ENST00000396930.3	-	16	3556	c.3013C>A	c.(3013-3015)Ctc>Atc	p.L1005I	KAT6A_ENST00000406337.1_Missense_Mutation_p.L1005I|KAT6A_ENST00000265713.2_Missense_Mutation_p.L1005I	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1005					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTGTGAGAATTGGTGGC	0.532																																						dbGAP											0													193.0	195.0	194.0					8																	41798386		2203	4300	6503	-	-	-	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3013C>A	8.37:g.41798386G>T	ENSP00000380136:p.Leu1005Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L1005I	ENST00000396930.3	37	c.3013	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314080	0.40996	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.65916	-0.18;-0.18;-0.18	5.43	4.55	0.56014	.	0.000000	0.64402	D	0.000013	T	0.75788	0.3897	M	0.69823	2.125	0.47621	D	0.999471	D	0.69078	0.997	D	0.78314	0.991	T	0.74003	-0.3804	10	0.27785	T	0.31	-13.7476	13.7089	0.62656	0.0739:0.0:0.9261:0.0	.	1005	Q92794	KAT6A_HUMAN	I	1005;1005;1005;585	ENSP00000265713:L1005I;ENSP00000385888:L1005I;ENSP00000380136:L1005I	ENSP00000265713:L1005I	L	-	1	0	KAT6A	41917543	1.000000	0.71417	0.039000	0.18376	0.985000	0.73830	6.280000	0.72626	1.281000	0.44480	0.557000	0.71058	CTC	KAT6A	-	NULL	ENSG00000083168		0.532	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	452	0.00	0	G	NM_006766		41798386	41798386	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	missense	226	27.56	86	SNP	0.955	T
KAT6B	23522	genome.wustl.edu	37	10	76735881	76735881	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:76735881C>T	ENST00000287239.4	+	8	2275	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	596	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TATTAGAAGTCGGTTTATTTC	0.423																																						dbGAP											0													76.0	76.0	76.0					10																	76735881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1786C>T	10.37:g.76735881C>T	ENSP00000287239:p.Arg596Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R596W	ENST00000287239.4	37	c.1786	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574612	0.28092	.	.	ENSG00000156650	ENST00000287239	T	0.79653	-1.29	6.08	4.96	0.65561	.	0.000000	0.51477	D	0.000091	T	0.77758	0.4178	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76597	-0.2901	9	.	.	.	-11.6266	12.2193	0.54425	0.8512:0.1488:0.0:0.0	.	596	Q8WYB5	KAT6B_HUMAN	W	596	ENSP00000287239:R596W	.	R	+	1	2	KAT6B	76405887	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.629000	0.54266	1.127000	0.42034	-0.262000	0.10625	CGG	KAT6B	-	NULL	ENSG00000156650		0.423	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	192	0.52	1	C	NM_012330		76735881	76735881	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	156	10.34	18	SNP	1.000	T
KAT6B	23522	genome.wustl.edu	37	10	76737186	76737186	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:76737186T>G	ENST00000287239.4	+	9	2595	c.2106T>G	c.(2104-2106)ctT>ctG	p.L702L	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Silent_p.L410L|KAT6B_ENST00000372711.1_Silent_p.L519L|KAT6B_ENST00000372714.1_Silent_p.L410L|KAT6B_ENST00000372725.1_Silent_p.L410L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	702	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCCAGGAACTTTCTTGGGAGG	0.368																																						dbGAP											0													209.0	190.0	196.0					10																	76737186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2106T>G	10.37:g.76737186T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L702	ENST00000287239.4	37	c.2106	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.368	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	340	0.00	0	T	NM_012330		76737186	76737186	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	silent	248	11.11	31	SNP	1.000	G
KATNAL2	83473	genome.wustl.edu	37	18	44595969	44595969	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:44595969C>T	ENST00000245121.5	+	10	984	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R336W|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.R264W(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAAACTCGTTCGGGTAGGAAT	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											65.0	62.0	63.0					18																	44595969		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.790C>T	18.37:g.44595969C>T	ENSP00000245121:p.Arg264Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.R264W	ENST00000245121.5	37	c.790	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291167	0.59976	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.94417	-3.42;-3.42	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.98701	4.305	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99372	1.0920	10	0.87932	D	0	-11.2445	15.5906	0.76523	0.1382:0.8617:0.0:0.0	.	336	Q8IYT4	KATL2_HUMAN	W	336;264;104	ENSP00000348478:R336W;ENSP00000245121:R264W	ENSP00000245121:R264W	R	+	1	2	KATNAL2	42849967	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	2.362000	0.44169	2.738000	0.93877	0.655000	0.94253	CGG	KATNAL2	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	ENSG00000167216		0.368	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	325	0.00	0	C	NM_031303		44595969	44595969	+1	no_errors	ENST00000245121	ensembl	human	known	69_37n	missense	154	25.60	53	SNP	1.000	T
KLHL41	10324	genome.wustl.edu	37	2	170377483	170377483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170377483G>T	ENST00000284669.1	+	5	1752	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*	KLHL41_ENST00000463400.1_3'UTR|RP11-724O16.1_ENST00000513963.1_Nonsense_Mutation_p.E497*|BBS5_ENST00000554017.1_Nonsense_Mutation_p.E497*	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	559					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											GGAGTCTAAAGAATTTGCACC	0.383																																						dbGAP											0													158.0	140.0	146.0					2																	170377483		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1675G>T	2.37:g.170377483G>T	ENSP00000284669:p.Glu559*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R42	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E559*	ENST00000284669.1	37	c.1675	CCDS2234.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.795339	0.96952	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	.	.	.	5.29	5.29	0.74685	.	0.198263	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2781	0.94040	0.0:0.0:1.0:0.0	.	.	.	.	X	497;497;559	.	ENSP00000284669:E559X	E	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170085729	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.420000	0.80191	2.634000	0.89283	0.591000	0.81541	GAA	KBTBD10	-	pirsf_Kelch-like_gigaxonin	ENSG00000239474		0.383	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	553	0.00	0	G	NM_006063		170377483	170377483	+1	no_errors	ENST00000284669	ensembl	human	known	69_37n	nonsense	421	10.04	47	SNP	1.000	T
KBTBD4	55709	genome.wustl.edu	37	11	47599453	47599453	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:47599453G>A	ENST00000526005.1	-	2	252	c.99C>T	c.(97-99)ggC>ggT	p.G33G	KBTBD4_ENST00000430070.2_Silent_p.G49G|NDUFS3_ENST00000529276.1_5'Flank|KBTBD4_ENST00000395288.2_Silent_p.G33G|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000450908.1_3'UTR|KBTBD4_ENST00000525720.1_Silent_p.G82G|NDUFS3_ENST00000528192.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534208.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_Silent_p.G58G			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	33										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTTTCATGATGCCTTGAGCCA	0.517																																						dbGAP											0													96.0	89.0	92.0					11																	47599453		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.99C>T	11.37:g.47599453G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Silent	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.G49	ENST00000526005.1	37	c.147	CCDS7940.1	11																																																																																			KBTBD4	-	superfamily_BTB/POZ_fold	ENSG00000123444		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	74	0.00	0	G	NM_016506		47599453	47599453	-1	no_errors	ENST00000430070	ensembl	human	known	69_37n	silent	62	10.14	7	SNP	1.000	A
KBTBD6	89890	genome.wustl.edu	37	13	41705201	41705201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41705201G>A	ENST00000379485.1	-	1	1681	c.1447C>T	c.(1447-1449)Cga>Tga	p.R483*	KBTBD6_ENST00000499385.2_Nonsense_Mutation_p.R417*	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	483										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGATAGTCTCGAATTACCATT	0.428																																						dbGAP											0													74.0	75.0	74.0					13																	41705201		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1447C>T	13.37:g.41705201G>A	ENSP00000368799:p.Arg483*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R483*	ENST00000379485.1	37	c.1447	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	g	25.0	4.592538	0.86953	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	.	.	.	3.8	3.8	0.43715	.	0.212991	0.36854	N	0.002380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.8697	0.35309	0.0:0.0:0.7765:0.2235	.	.	.	.	X	483;417	.	ENSP00000368799:R483X	R	-	1	2	KBTBD6	40603201	0.954000	0.32549	0.885000	0.34714	0.068000	0.16541	2.485000	0.45250	2.132000	0.65825	0.462000	0.41574	CGA	KBTBD6	-	smart_Kelch_1	ENSG00000165572		0.428	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	134	0.00	0	G	NM_152903		41705201	41705201	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	nonsense	61	21.79	17	SNP	0.995	A
KBTBD6	89890	genome.wustl.edu	37	13	41705266	41705266	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41705266C>A	ENST00000379485.1	-	1	1616	c.1382G>T	c.(1381-1383)aGa>aTa	p.R461I	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R395I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	461										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCACTGGTTTCTCTTAACATT	0.438																																						dbGAP											0													95.0	98.0	97.0					13																	41705266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1382G>T	13.37:g.41705266C>A	ENSP00000368799:p.Arg461Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R461I	ENST00000379485.1	37	c.1382	CCDS9376.1	13	.	.	.	.	.	.	.	.	.	.	c	15.45	2.838389	0.51057	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.78003	-1.14;-1.14	3.8	2.93	0.34026	Kelch-type beta propeller (1);	0.053171	0.64402	D	0.000001	T	0.80481	0.4631	L	0.48218	1.51	0.50813	D	0.999893	D;D	0.76494	0.999;0.997	D;D	0.70227	0.968;0.953	T	0.76211	-0.3042	10	0.30854	T	0.27	.	8.5064	0.33190	0.0:0.8778:0.0:0.1222	.	395;461	F5GZN7;Q86V97	.;KBTB6_HUMAN	I	461;395	ENSP00000368799:R461I;ENSP00000444326:R395I	ENSP00000368799:R461I	R	-	2	0	KBTBD6	40603266	0.992000	0.36948	1.000000	0.80357	0.684000	0.39900	2.930000	0.48924	0.917000	0.36895	0.462000	0.41574	AGA	KBTBD6	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000165572		0.438	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	188	0.00	0	C	NM_152903		41705266	41705266	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	missense	82	17.17	17	SNP	1.000	A
KBTBD7	84078	genome.wustl.edu	37	13	41767845	41767845	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41767845G>A	ENST00000379483.3	-	1	857	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	183										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGTGATGGTCGAAGGCGTCTG	0.542																																						dbGAP											0													124.0	107.0	113.0					13																	41767845		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.549C>T	13.37:g.41767845G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F183	ENST00000379483.3	37	c.549	CCDS9377.1	13																																																																																			KBTBD7	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000120696		0.542	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	129	0.00	0	G	NM_032138		41767845	41767845	-1	no_errors	ENST00000379483	ensembl	human	known	69_37n	silent	71	16.47	14	SNP	0.971	A
KCNA1	3736	genome.wustl.edu	37	12	5021916	5021916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:5021916G>T	ENST00000382545.3	+	2	2479	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	458					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CATGGAGATCGAAGAGGATAT	0.463																																						dbGAP											0													189.0	183.0	185.0					12																	5021916		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1372G>T	12.37:g.5021916G>T	ENSP00000371985:p.Glu458*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM83|Q3MIQ9	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.E458*	ENST00000382545.3	37	c.1372	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	G	47	13.006431	0.99713	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	.	.	.	5.35	5.35	0.76521	.	0.052795	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.5892	0.91202	0.0:0.0:1.0:0.0	.	.	.	.	X	458	.	ENSP00000228858:E458X	E	+	1	0	KCNA1	4892177	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.129000	0.50500	2.941000	0.99782	0.655000	0.94253	GAA	KCNA1	-	NULL	ENSG00000111262		0.463	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	99	0.00	0	G	NM_000217		5021916	5021916	+1	no_errors	ENST00000382545	ensembl	human	known	69_37n	nonsense	77	10.47	9	SNP	1.000	T
KCNA10	3744	genome.wustl.edu	37	1	111059963	111059963	+	Missense_Mutation	SNP	T	T	A	rs375777896		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:111059963T>A	ENST00000369771.2	-	1	1834	c.1447A>T	c.(1447-1449)Atc>Ttc	p.I483F		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	483					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTGTTGAGGATTCTTTCAATT	0.468																																						dbGAP											0													190.0	176.0	181.0					1																	111059963		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1447A>T	1.37:g.111059963T>A	ENSP00000358786:p.Ile483Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.I483F	ENST00000369771.2	37	c.1447	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	T	0.120	-1.126505	0.01770	.	.	ENSG00000143105	ENST00000369771	D	0.96913	-4.17	5.65	-1.85	0.07784	.	6.095980	0.00819	U	0.001562	D	0.85575	0.5728	L	0.47716	1.5	0.09310	N	1	B	0.15473	0.013	B	0.16722	0.016	T	0.80315	-0.1434	10	0.10111	T	0.7	.	5.1274	0.14892	0.0982:0.0672:0.3499:0.4846	.	483	Q16322	KCA10_HUMAN	F	483	ENSP00000358786:I483F	ENSP00000358786:I483F	I	-	1	0	KCNA10	110861486	0.621000	0.27077	0.218000	0.23776	0.067000	0.16453	0.616000	0.24344	-0.148000	0.11234	0.379000	0.24179	ATC	KCNA10	-	NULL	ENSG00000143105		0.468	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA10	HGNC	protein_coding	OTTHUMT00000059081.1	397	0.00	0	T	NM_005549		111059963	111059963	-1	no_errors	ENST00000369771	ensembl	human	known	69_37n	missense	283	15.98	54	SNP	0.002	A
KCNA10	3744	genome.wustl.edu	37	1	111060605	111060605	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:111060605C>T	ENST00000369771.2	-	1	1192	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	269					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AAGAAAGGGTCGGTGAACATG	0.552																																						dbGAP											0													188.0	147.0	161.0					1																	111060605		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.805G>A	1.37:g.111060605C>T	ENSP00000358786:p.Asp269Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D269N	ENST00000369771.2	37	c.805	CCDS826.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592968	0.86953	.	.	ENSG00000143105	ENST00000369771	D	0.97404	-4.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.98043	1.0383	10	0.51188	T	0.08	.	18.6105	0.91283	0.0:1.0:0.0:0.0	.	269	Q16322	KCA10_HUMAN	N	269	ENSP00000358786:D269N	ENSP00000358786:D269N	D	-	1	0	KCNA10	110862128	1.000000	0.71417	0.965000	0.40720	0.964000	0.63967	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	GAC	KCNA10	-	NULL	ENSG00000143105		0.552	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA10	HGNC	protein_coding	OTTHUMT00000059081.1	208	0.00	0	C	NM_005549		111060605	111060605	-1	no_errors	ENST00000369771	ensembl	human	known	69_37n	missense	173	14.22	29	SNP	1.000	T
KCNA3	3738	genome.wustl.edu	37	1	111216458	111216458	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:111216458C>T	ENST00000369769.2	-	1	1197	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	325					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CATGATGTTTCGCGAGAAGGT	0.532																																						dbGAP											0													88.0	86.0	87.0					1																	111216458		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.974G>A	1.37:g.111216458C>T	ENSP00000358784:p.Arg325Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWN2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R325Q	ENST00000369769.2	37	c.974	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632381	0.67015	.	.	ENSG00000177272	ENST00000369769	D	0.98876	-5.2	5.26	5.26	0.73747	Ion transport (1);	0.064498	0.56097	U	0.000025	D	0.97374	0.9141	M	0.80746	2.51	0.40211	D	0.977623	P	0.46859	0.885	P	0.46076	0.503	D	0.97237	0.9888	10	0.66056	D	0.02	.	6.8514	0.24016	0.0:0.7825:0.0:0.2175	.	325	P22001	KCNA3_HUMAN	Q	325	ENSP00000358784:R325Q	ENSP00000358784:R325Q	R	-	2	0	KCNA3	111017981	1.000000	0.71417	0.658000	0.29665	0.998000	0.95712	4.929000	0.63455	2.456000	0.83038	0.655000	0.94253	CGA	KCNA3	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000177272		0.532	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	104	0.00	0	C	NM_002232		111216458	111216458	-1	no_errors	ENST00000369769	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	1.000	T
KCNA5	3741	genome.wustl.edu	37	12	5153829	5153829	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:5153829C>T	ENST00000252321.3	+	1	745	c.516C>T	c.(514-516)ttC>ttT	p.F172F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	172					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGCCCAGCTTCGACGGTATCC	0.647																																						dbGAP											0													36.0	40.0	39.0					12																	5153829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.516C>T	12.37:g.5153829C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.F172	ENST00000252321.3	37	c.516	CCDS8536.1	12																																																																																			KCNA5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	ENSG00000130037		0.647	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	35	0.00	0	C	NM_002234		5153829	5153829	+1	no_errors	ENST00000252321	ensembl	human	known	69_37n	silent	23	30.30	10	SNP	1.000	T
KCNA5	3741	genome.wustl.edu	37	12	5154447	5154447	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:5154447G>T	ENST00000252321.3	+	1	1363	c.1134G>T	c.(1132-1134)gaG>gaT	p.E378D		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	378					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AACTGGCAGAGCAGCAGCCAG	0.627																																						dbGAP											0													64.0	59.0	60.0					12																	5154447		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1134G>T	12.37:g.5154447G>T	ENSP00000252321:p.Glu378Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E378D	ENST00000252321.3	37	c.1134	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275472	0.23307	.	.	ENSG00000130037	ENST00000252321	D	0.98419	-4.92	4.87	3.99	0.46301	Ion transport (1);	0.219702	0.37393	N	0.002103	D	0.94807	0.8323	N	0.21508	0.67	0.43195	D	0.995031	B	0.06786	0.001	B	0.20767	0.031	D	0.91892	0.5524	10	0.48119	T	0.1	.	10.5718	0.45204	0.1606:0.0:0.8394:0.0	.	378	P22460	KCNA5_HUMAN	D	378	ENSP00000252321:E378D	ENSP00000252321:E378D	E	+	3	2	KCNA5	5024708	1.000000	0.71417	0.894000	0.35097	0.778000	0.44026	0.907000	0.28531	1.291000	0.44653	0.561000	0.74099	GAG	KCNA5	-	pfam_Ion_trans_dom	ENSG00000130037		0.627	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	57	0.00	0	G	NM_002234		5154447	5154447	+1	no_errors	ENST00000252321	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.990	T
KCNAB2	8514	genome.wustl.edu	37	1	6142306	6142306	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:6142306G>A	ENST00000164247.1	+	6	817	c.253G>A	c.(253-255)Gat>Aat	p.D85N	KCNAB2_ENST00000378092.1_Missense_Mutation_p.D71N|KCNAB2_ENST00000341524.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000378087.3_Missense_Mutation_p.D85N|KCNAB2_ENST00000378111.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000378097.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000378083.3_Missense_Mutation_p.D118N|KCNAB2_ENST00000458166.2_Missense_Mutation_p.D18N|KCNAB2_ENST00000602612.1_Missense_Mutation_p.D85N|KCNAB2_ENST00000352527.1_Missense_Mutation_p.D71N	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	85					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.D85N(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCTTCGATACAGCAGA	0.557																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											130.0	116.0	121.0					1																	6142306		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.253G>A	1.37:g.6142306G>A	ENSP00000164247:p.Asp85Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.D118N	ENST00000164247.1	37	c.352	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923963	0.92319	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000352527;ENST00000435937;ENST00000164247;ENST00000378083;ENST00000458166	T;T;T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.33	5.33	0.75918	NADP-dependent oxidoreductase domain (3);	0.043918	0.85682	D	0.000000	D	0.86908	0.6046	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.928;0.932;0.999	D	0.91585	0.5282	10	0.87932	D	0	-8.4899	17.5837	0.87974	0.0:0.0:1.0:0.0	.	118;71;85;85	Q13303-3;Q13303-2;Q13303;Q2YD85	.;.;KCAB2_HUMAN;.	N	85;85;71;71;85;85;85;71;71;85;118;18	ENSP00000367351:D85N;ENSP00000367337:D85N;ENSP00000367332:D71N;ENSP00000400285:D71N;ENSP00000374283:D85N;ENSP00000367327:D85N;ENSP00000340824:D85N;ENSP00000318772:D71N;ENSP00000389151:D71N;ENSP00000164247:D85N;ENSP00000367323:D118N;ENSP00000396167:D18N	ENSP00000164247:D85N	D	+	1	0	KCNAB2	6064893	1.000000	0.71417	0.764000	0.31436	0.899000	0.52679	8.470000	0.90399	2.482000	0.83794	0.563000	0.77884	GAT	KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000069424		0.557	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	140	0.00	0	G	NM_172130		6142306	6142306	+1	no_errors	ENST00000378083	ensembl	human	known	69_37n	missense	43	36.76	25	SNP	1.000	A
KCNB1	3745	genome.wustl.edu	37	20	47990588	47990588	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47990588G>T	ENST00000371741.4	-	2	1675	c.1509C>A	c.(1507-1509)tcC>tcA	p.S503S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	503					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGGTTTCAAAGGACTTACTTG	0.428																																						dbGAP											0													240.0	225.0	230.0					20																	47990588		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1509C>A	20.37:g.47990588G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.S503	ENST00000371741.4	37	c.1509	CCDS13418.1	20																																																																																			KCNB1	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000158445		0.428	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	249	0.00	0	G	NM_004975		47990588	47990588	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	silent	184	13.21	28	SNP	1.000	T
KCNB1	3745	genome.wustl.edu	37	20	47991437	47991437	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47991437G>A	ENST00000371741.4	-	2	826	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	220					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.F220L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TGGACTGGCCGAACTCATCGA	0.577																																						dbGAP											1	Substitution - Missense(1)	lung(1)											99.0	80.0	86.0					20																	47991437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.660C>T	20.37:g.47991437G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14193	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.F220	ENST00000371741.4	37	c.660	CCDS13418.1	20																																																																																			KCNB1	-	NULL	ENSG00000158445		0.577	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	182	0.00	0	G	NM_004975		47991437	47991437	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	silent	98	33.33	49	SNP	0.143	A
KCNC1	3746	genome.wustl.edu	37	11	17794171	17794171	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:17794171G>A	ENST00000379472.3	+	2	1560	c.1530G>A	c.(1528-1530)tcG>tcA	p.S510S	KCNC1_ENST00000265969.6_Intron	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	510					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GAGGCATGTCGATCTGACCTT	0.527																																						dbGAP											0													58.0	59.0	59.0					11																	17794171		2199	4289	6488	-	-	-	SO:0001819	synonymous_variant	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1530G>A	11.37:g.17794171G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	K4DI87	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.S510	ENST00000379472.3	37	c.1530	CCDS7827.1	11																																																																																			KCNC1	-	NULL	ENSG00000129159		0.527	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	17	0.00	0	G	NM_004976		17794171	17794171	+1	no_errors	ENST00000379472	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.519	A
KCNC2	3747	genome.wustl.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A	rs200951837		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	376					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R376*(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GTACTAGCTCGAAGAGTATGT	0.453																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											53.0	50.0	51.0					12																	75444659		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.1126C>T	12.37:g.75444659G>A	ENSP00000449253:p.Arg376*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R376*	ENST00000549446.1	37	c.1126	CCDS9007.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.583643	0.99211	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	.	.	.	6.06	6.06	0.98353	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8785	0.86058	0.0:0.0:0.8713:0.1287	.	.	.	.	X	376	.	ENSP00000298972:R376X	R	-	1	2	KCNC2	73730926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.969000	0.56816	2.880000	0.98712	0.650000	0.86243	CGA	KCNC2	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000166006		0.453	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	105	0.00	0	G	NM_153748		75444659	75444659	-1	no_errors	ENST00000549446	ensembl	human	known	69_37n	nonsense	69	16.87	14	SNP	1.000	A
KCNC3	3748	genome.wustl.edu	37	19	50823855	50823855	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:50823855C>T	ENST00000477616.1	-	3	2459	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	KCNC3_ENST00000376959.2_Missense_Mutation_p.R722Q|KCNC3_ENST00000391818.2_Missense_Mutation_p.E59K|KCNC3_ENST00000474951.1_Missense_Mutation_p.R38Q	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	722					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CTCACCTTTTCGGATGGAGCC	0.672																																					Melanoma(91;1496 2324 50908)	dbGAP											0													25.0	24.0	24.0					19																	50823855		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.2165G>A	19.37:g.50823855C>T	ENSP00000434241:p.Arg722Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R722Q	ENST00000477616.1	37	c.2165	CCDS12793.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.36|17.36	3.370825|3.370825	0.61624|0.61624	.|.	.|.	ENSG00000131398|ENSG00000131398	ENST00000391818|ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843	.|D;D	.|0.99070	.|-5.39;-5.35	2.72|2.72	2.72|2.72	0.32119|0.32119	.|.	.|5.822900	.|0.01869	.|U	.|0.037106	D|D	0.98710|0.98710	0.9567|0.9567	L|L	0.35542|0.35542	1.07|1.07	0.26223|0.26223	N|N	0.979121|0.979121	.|D;D	.|0.69078	.|0.997;0.983	.|D;P	.|0.67725	.|0.953;0.602	D|D	0.95530|0.95530	0.8602|0.8602	6|10	0.87932|0.56958	D|D	0|0.05	.|.	11.2081|11.2081	0.48782|0.48782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|722;722	.|Q14003;E7ETH1	.|KCNC3_HUMAN;.	K|Q	59|722;38;722;536	.|ENSP00000366158:R722Q;ENSP00000434241:R722Q	ENSP00000375694:E59K|ENSP00000366158:R722Q	E|R	-|-	1|2	0|0	KCNC3|KCNC3	55515667|55515667	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.877000|0.877000	0.50540|0.50540	6.211000|6.211000	0.72182|0.72182	1.540000|1.540000	0.49301|0.49301	0.460000|0.460000	0.39030|0.39030	GAA|CGA	KCNC3	-	NULL	ENSG00000131398		0.672	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	27	0.00	0	C	NM_004977		50823855	50823855	-1	no_errors	ENST00000477616	ensembl	human	known	69_37n	missense	26	27.03	10	SNP	1.000	T
KCND2	3751	genome.wustl.edu	37	7	119915482	119915482	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:119915482G>A	ENST00000331113.4	+	1	1761	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	266					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GAGTATCATCGACGTGGTGGC	0.537																																						dbGAP											0													180.0	149.0	159.0					7																	119915482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.796G>A	7.37:g.119915482G>A	ENSP00000333496:p.Asp266Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D266N	ENST00000331113.4	37	c.796	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960886	0.92791	.	.	ENSG00000184408	ENST00000331113	D	0.99376	-5.79	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	9	.	.	.	.	19.5635	0.95382	0.0:0.0:1.0:0.0	.	266	Q9NZV8	KCND2_HUMAN	N	266	ENSP00000333496:D266N	.	D	+	1	0	KCND2	119702718	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.869000	0.99810	2.636000	0.89361	0.557000	0.71058	GAC	KCND2	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000184408		0.537	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	125	0.00	0	G	NM_012281		119915482	119915482	+1	no_errors	ENST00000331113	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	1.000	A
KCNF1	3754	genome.wustl.edu	37	2	11053867	11053867	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:11053867G>A	ENST00000295082.1	+	1	1805	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	439					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CAGCGGGGGCGAGGGCAAGAC	0.647																																						dbGAP											0													31.0	34.0	33.0					2																	11053867		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1315G>A	2.37:g.11053867G>A	ENSP00000295082:p.Glu439Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.E439K	ENST00000295082.1	37	c.1315	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618995	0.28801	.	.	ENSG00000162975	ENST00000295082	D	0.97959	-4.63	5.18	5.18	0.71444	.	3.842630	0.01320	U	0.010911	D	0.93769	0.8008	N	0.08118	0	0.40561	D	0.981218	B	0.09022	0.002	B	0.04013	0.001	T	0.68300	-0.5445	10	0.08381	T	0.77	.	14.4458	0.67349	0.0:0.0:0.8525:0.1475	.	439	Q9H3M0	KCNF1_HUMAN	K	439	ENSP00000295082:E439K	ENSP00000295082:E439K	E	+	1	0	KCNF1	10971318	0.999000	0.42202	0.927000	0.36925	0.116000	0.19942	2.474000	0.45154	2.793000	0.96121	0.655000	0.94253	GAG	KCNF1	-	NULL	ENSG00000162975		0.647	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	18	0.00	0	G	NM_002236		11053867	11053867	+1	no_errors	ENST00000295082	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	0.995	A
KCNH2	3757	genome.wustl.edu	37	7	150656771	150656771	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:150656771C>T	ENST00000262186.5	-	3	762	c.361G>A	c.(361-363)Gct>Act	p.A121T	KCNH2_ENST00000430723.3_Missense_Mutation_p.A121T|KCNH2_ENST00000392968.2_Missense_Mutation_p.A25T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	121	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ATGATGACAGCCCCATCCTCG	0.607																																					GBM(137;110 1844 13671 20123 45161)	dbGAP											0													170.0	124.0	139.0					7																	150656771		2203	4300	6503	-	-	-	SO:0001583	missense	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.361G>A	7.37:g.150656771C>T	ENSP00000262186:p.Ala121Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.A121T	ENST00000262186.5	37	c.361	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350882	0.41599	.	.	ENSG00000055118	ENST00000392968;ENST00000262186;ENST00000430723	D;D;D	0.99594	-4.77;-6.25;-6.25	4.71	3.83	0.44106	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.327709	0.25648	N	0.029234	D	0.96812	0.8959	N	0.12569	0.235	0.30332	N	0.786582	P;B;B	0.47409	0.895;0.155;0.098	B;B;B	0.35607	0.206;0.051;0.186	D	0.95612	0.8673	10	0.37606	T	0.19	.	10.8652	0.46851	0.0:0.9056:0.0:0.0944	.	25;121;121	C4PFH9;G5E9I0;Q12809	.;.;KCNH2_HUMAN	T	25;121;121	ENSP00000376695:A25T;ENSP00000262186:A121T;ENSP00000387657:A121T	ENSP00000262186:A121T	A	-	1	0	KCNH2	150287704	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.426000	0.21363	0.988000	0.38734	0.436000	0.28706	GCT	KCNH2	-	pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS	ENSG00000055118		0.607	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	89	0.00	0	C	NM_000238		150656771	150656771	-1	no_errors	ENST00000262186	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	0.988	T
KCNH7	90134	genome.wustl.edu	37	2	163693210	163693210	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:163693210G>T	ENST00000332142.5	-	2	243	c.144C>A	c.(142-144)ttC>ttA	p.F48L	KCNH7_ENST00000328032.4_Missense_Mutation_p.F48L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	48	PAS.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCATCTCACAGAACCCATCGT	0.433																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													88.0	75.0	80.0					2																	163693210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.144C>A	2.37:g.163693210G>T	ENSP00000331727:p.Phe48Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.F48L	ENST00000332142.5	37	c.144	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988282	0.93106	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99598	-6.26;-6.26	5.87	4.98	0.66077	PAS fold-3 (1);PAS (2);	0.049782	0.85682	D	0.000000	D	0.99722	0.9892	H	0.96239	3.79	0.51012	D	0.999903	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.977	D	0.97540	1.0085	10	0.56958	D	0.05	.	13.5161	0.61541	0.0742:0.0:0.9258:0.0	.	48;48	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	L	48	ENSP00000331727:F48L;ENSP00000333781:F48L	ENSP00000333781:F48L	F	-	3	2	KCNH7	163401456	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.862000	0.56009	2.785000	0.95823	0.655000	0.94253	TTC	KCNH7	-	pfam_PAS_fold_3,tigrfam_PAS	ENSG00000184611		0.433	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	118	0.00	0	G	NM_033272		163693210	163693210	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	1.000	T
KCNH8	131096	genome.wustl.edu	37	3	19492764	19492764	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:19492764C>A	ENST00000328405.2	+	10	1959	c.1693C>A	c.(1693-1695)Cta>Ata	p.L565I	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	565					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTCTCTGTCTCTACACATCAA	0.507																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0													106.0	110.0	109.0					3																	19492764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1693C>A	3.37:g.19492764C>A	ENSP00000328813:p.Leu565Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.L565I	ENST00000328405.2	37	c.1693	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.166443	0.94768	.	.	ENSG00000183960	ENST00000328405	D	0.96856	-4.15	5.67	4.8	0.61643	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.27659	U	0.018393	D	0.97031	0.9030	L	0.56199	1.76	0.80722	D	1	P	0.46512	0.879	P	0.62885	0.908	D	0.96455	0.9337	9	.	.	.	.	14.6484	0.68777	0.0:0.9304:0.0:0.0696	.	565	Q96L42	KCNH8_HUMAN	I	565	ENSP00000328813:L565I	.	L	+	1	2	KCNH8	19467768	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.080000	0.57620	1.422000	0.47177	0.460000	0.39030	CTA	KCNH8	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000183960		0.507	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	247	0.00	0	C	NM_144633		19492764	19492764	+1	no_errors	ENST00000328405	ensembl	human	known	69_37n	missense	139	20.11	35	SNP	1.000	A
KCNH8	131096	genome.wustl.edu	37	3	19492784	19492784	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:19492784C>A	ENST00000328405.2	+	10	1979	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	571					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAACCTCTTTCTGTGCTCCGG	0.507																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0													98.0	103.0	101.0					3																	19492784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1713C>A	3.37:g.19492784C>A	ENSP00000328813:p.Phe571Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.F571L	ENST00000328405.2	37	c.1713	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540274	0.85917	.	.	ENSG00000183960	ENST00000328405	D	0.96459	-4.02	5.67	4.78	0.61160	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.33382	U	0.004976	D	0.97068	0.9042	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96313	0.9230	9	.	.	.	.	9.4309	0.38608	0.0:0.7841:0.0:0.2159	.	571	Q96L42	KCNH8_HUMAN	L	571	ENSP00000328813:F571L	.	F	+	3	2	KCNH8	19467788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.510000	0.35790	1.381000	0.46364	0.460000	0.39030	TTC	KCNH8	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG	ENSG00000183960		0.507	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	235	0.00	0	C	NM_144633		19492784	19492784	+1	no_errors	ENST00000328405	ensembl	human	known	69_37n	missense	106	29.80	45	SNP	1.000	A
KCNJ12	3768	genome.wustl.edu	37	17	21319233	21319233	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:21319233G>A	ENST00000583088.1	+	3	1474	c.579G>A	c.(577-579)acG>acA	p.T193T	KCNJ12_ENST00000331718.5_Silent_p.T193T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	193					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGGCACAGACGCTGCTGTTCA	0.612										Prostate(3;0.18)																												dbGAP											0													84.0	75.0	78.0					17																	21319233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.579G>A	17.37:g.21319233G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.T193	ENST00000583088.1	37	c.579	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	37	0.00	0	G	NM_021012		21319233	21319233	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	silent	27	15.62	5	SNP	0.400	A
KCNJ13	3769	genome.wustl.edu	37	2	233632925	233632925	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:233632925G>T	ENST00000233826.3	-	3	1198	c.1059C>A	c.(1057-1059)atC>atA	p.I353I	GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_3'UTR|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000410029.1_Silent_p.I353I|GIGYF2_ENST00000409451.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	353					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CTGTTTCAGAGATCTGAAAAT	0.378																																						dbGAP											0													109.0	109.0	109.0					2																	233632925		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.1059C>A	2.37:g.233632925G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7,prints_K_chnl_inward-rec_Kir_Cr2	p.I353	ENST00000233826.3	37	c.1059	CCDS2498.1	2																																																																																			KCNJ13	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir7	ENSG00000115474		0.378	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ13	HGNC	protein_coding	OTTHUMT00000257036.1	227	0.00	0	G	NM_002242		233632925	233632925	-1	no_errors	ENST00000233826	ensembl	human	known	69_37n	silent	157	16.49	31	SNP	1.000	T
KCNJ15	3772	genome.wustl.edu	37	21	39671654	39671654	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:39671654G>T	ENST00000328656.4	+	4	774	c.471G>T	c.(469-471)gaG>gaT	p.E157D	KCNJ15_ENST00000398938.2_Missense_Mutation_p.E157D|KCNJ15_ENST00000398934.1_Missense_Mutation_p.E157D|KCNJ15_ENST00000398930.1_Missense_Mutation_p.E157D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.E157D	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	157		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium. {ECO:0000250}.			potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CCTTGATTGAGATCTTCATCA	0.512																																						dbGAP											0													83.0	79.0	80.0					21																	39671654		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.471G>T	21.37:g.39671654G>T	ENSP00000331698:p.Glu157Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.1	p.E157D	ENST00000328656.4	37	c.471	CCDS13656.1	21	.	.	.	.	.	.	.	.	.	.	G	3.961	-0.010280	0.07727	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.83	-4.51	0.03483	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	L	0.28014	0.82	0.51482	D	0.999921	D	0.89917	1.0	D	0.91635	0.999	D	0.88453	0.3050	9	.	.	.	.	17.2563	0.87057	0.6843:0.0:0.3157:0.0	.	157	Q99712	IRK15_HUMAN	D	157	ENSP00000331698:E157D;ENSP00000381911:E157D;ENSP00000381905:E157D;ENSP00000414487:E157D;ENSP00000381904:E157D;ENSP00000381907:E157D	.	E	+	3	2	KCNJ15	38593524	0.010000	0.17322	0.797000	0.32132	0.496000	0.33645	-0.855000	0.04295	-1.000000	0.03438	-0.794000	0.03295	GAG	KCNJ15	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000157551		0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ15	HGNC	protein_coding	OTTHUMT00000207181.2	101	0.00	0	G	NM_002243		39671654	39671654	+1	no_errors	ENST00000328656	ensembl	human	known	69_37n	missense	74	12.94	11	SNP	0.227	T
KCNJ5	3762	genome.wustl.edu	37	11	128781576	128781576	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:128781576C>T	ENST00000338350.4	+	3	760	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KCNJ5_ENST00000533599.1_Silent_p.F136F|KCNJ5_ENST00000529694.1_Silent_p.F136F			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	136					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TCAGTGGCTTCGTGTCCGCTT	0.502																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	dbGAP											0													155.0	150.0	151.0					11																	128781576		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.408C>T	11.37:g.128781576C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.4	p.F136	ENST00000338350.4	37	c.408	CCDS8479.1	11																																																																																			KCNJ5	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000120457		0.502	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	114	0.87	1	C	NM_000890		128781576	128781576	+1	no_errors	ENST00000529694	ensembl	human	known	69_37n	silent	82	15.46	15	SNP	0.975	T
KCNJ6	3763	genome.wustl.edu	37	21	39087043	39087043	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:39087043G>A	ENST00000609713.1	-	3	1006	c.417C>T	c.(415-417)ttC>ttT	p.F139F	KCNJ6_ENST00000288309.6_Silent_p.F139F|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	139					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AAGCAGAGACGAACCCGTTGA	0.453																																					Pancreas(48;379 1118 2936 19024 28214)	dbGAP											0													102.0	106.0	105.0					21																	39087043		1852	4103	5955	-	-	-	SO:0001819	synonymous_variant	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.417C>T	21.37:g.39087043G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ74|Q53WW6	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.2	p.F139	ENST00000609713.1	37	c.417	CCDS42927.1	21																																																																																			KCNJ6	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000157542		0.453	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	155	0.00	0	G	NM_002240		39087043	39087043	-1	no_errors	ENST00000288309	ensembl	human	known	69_37n	silent	90	21.05	24	SNP	0.698	A
KCNJ8	3764	genome.wustl.edu	37	12	21918863	21918863	+	Nonsense_Mutation	SNP	C	C	A	rs188570294		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:21918863C>A	ENST00000240662.2	-	3	1414	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	357					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCATCCAGCTCTCGGGCACTG	0.453																																						dbGAP											0													131.0	130.0	130.0					12																	21918863		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1069G>T	12.37:g.21918863C>A	ENSP00000240662:p.Glu357*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00657	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir6.1	p.E357*	ENST00000240662.2	37	c.1069	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.885219	0.98542	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.6941	0.96016	0.0:1.0:0.0:0.0	.	.	.	.	X	357	.	ENSP00000240662:E357X	E	-	1	0	KCNJ8	21810130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	2.885000	0.99019	0.655000	0.94253	GAG	KCNJ8	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	ENSG00000121361		0.453	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	416	0.00	0	C	NM_004982		21918863	21918863	-1	no_errors	ENST00000240662	ensembl	human	known	69_37n	nonsense	227	13.03	34	SNP	1.000	A
KCNK10	54207	genome.wustl.edu	37	14	88693721	88693721	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:88693721G>T	ENST00000340700.5	-	4	1115	c.664C>A	c.(664-666)Cga>Aga	p.R222R	KCNK10_ENST00000319231.5_Silent_p.R227R|KCNK10_ENST00000312350.5_Silent_p.R227R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	222					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTACTCACTCGAAAGACCTTC	0.438																																						dbGAP											0													113.0	109.0	111.0					14																	88693721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.664C>A	14.37:g.88693721G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.R227	ENST00000340700.5	37	c.679	CCDS9880.1	14																																																																																			KCNK10	-	prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TRAAK	ENSG00000100433		0.438	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	155	0.64	1	G	NM_021161		88693721	88693721	-1	no_errors	ENST00000312350	ensembl	human	known	69_37n	silent	93	28.46	37	SNP	1.000	T
KCNK13	56659	genome.wustl.edu	37	14	90651281	90651281	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:90651281C>A	ENST00000282146.4	+	2	1602	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	387					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAATGAATTCTCAGGGGGGG	0.597																																						dbGAP											0													17.0	19.0	18.0					14																	90651281		2200	4291	6491	-	-	-	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1161C>A	14.37:g.90651281C>A	ENSP00000282146:p.Phe387Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.F387L	ENST00000282146.4	37	c.1161	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420032	0.25552	.	.	ENSG00000152315	ENST00000282146	T	0.44083	0.93	5.12	3.3	0.37823	.	0.000000	0.43260	D	0.000591	T	0.45155	0.1328	M	0.73962	2.25	0.58432	D	0.999998	B	0.31351	0.32	B	0.36464	0.225	T	0.34502	-0.9826	10	0.35671	T	0.21	.	11.0158	0.47687	0.0:0.7881:0.0:0.2119	.	387	Q9HB14	KCNKD_HUMAN	L	387	ENSP00000282146:F387L	ENSP00000282146:F387L	F	+	3	2	KCNK13	89721034	1.000000	0.71417	0.981000	0.43875	0.003000	0.03518	3.978000	0.56881	0.665000	0.31066	-0.136000	0.14681	TTC	KCNK13	-	NULL	ENSG00000152315		0.597	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	31	0.00	0	C	NM_022054		90651281	90651281	+1	no_errors	ENST00000282146	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	1.000	A
RIMS4	140730	genome.wustl.edu	37	20	43378957	43378957	+	IGR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43378957G>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.E157D	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCCACGGAGAACCTGGTGG	0.701																																						dbGAP											0													24.0	23.0	23.0					20																	43378957		2199	4297	6496	-	-	-	SO:0001628	intergenic_variant	0				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378957G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.E157D	ENST00000372851.3	37	c.471	CCDS13338.1	20	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124937	0.37533	.	.	ENSG00000124249	ENST00000372861	D	0.97404	-4.37	4.29	3.34	0.38264	.	0.132434	0.48767	U	0.000170	D	0.94401	0.8199	M	0.65498	2.005	0.41115	D	0.985778	B	0.06786	0.001	B	0.06405	0.002	D	0.89576	0.3817	10	0.12766	T	0.61	.	9.3758	0.38281	0.1725:0.0:0.8275:0.0	.	157	Q9H427	KCNKF_HUMAN	D	157	ENSP00000361952:E157D	ENSP00000361952:E157D	E	+	3	2	KCNK15	42812371	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	2.082000	0.41605	1.013000	0.39391	0.655000	0.94253	GAG	KCNK15	-	pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000124249		0.701	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	HGNC	protein_coding	OTTHUMT00000101027.2	30	0.00	0	G	NM_182970		43378957	43378957	+1	no_errors	ENST00000372861	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	T
KCNK18	338567	genome.wustl.edu	37	10	118957182	118957182	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:118957182C>A	ENST00000334549.1	+	1	183	c.183C>A	c.(181-183)ttC>ttA	p.F61L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	61					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTGAGAAGTTCTTGGAGGAGC	0.572																																						dbGAP											0													98.0	86.0	90.0					10																	118957182		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.183C>A	10.37:g.118957182C>A	ENSP00000334650:p.Phe61Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQQ8	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.F61L	ENST00000334549.1	37	c.183	CCDS7598.1	10	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112512	0.56398	.	.	ENSG00000186795	ENST00000334549	T	0.14516	2.5	4.27	2.42	0.29668	.	0.218811	0.47455	D	0.000232	T	0.08044	0.0201	L	0.34521	1.04	0.09310	N	1	P	0.34864	0.473	B	0.31442	0.13	T	0.32375	-0.9909	10	0.11485	T	0.65	.	8.3244	0.32147	0.0:0.8103:0.0:0.1897	.	61	Q7Z418	KCNKI_HUMAN	L	61	ENSP00000334650:F61L	ENSP00000334650:F61L	F	+	3	2	KCNK18	118947172	0.998000	0.40836	0.027000	0.17364	0.282000	0.26991	1.228000	0.32588	0.748000	0.32831	0.561000	0.74099	TTC	KCNK18	-	NULL	ENSG00000186795		0.572	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK18	HGNC	protein_coding	OTTHUMT00000050562.2	79	0.00	0	C	NM_181840		118957182	118957182	+1	no_errors	ENST00000334549	ensembl	human	known	69_37n	missense	35	37.50	21	SNP	0.203	A
KCNK5	8645	genome.wustl.edu	37	6	39159242	39159242	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:39159242G>A	ENST00000359534.3	-	5	1262	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	308					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCTTCTTCCCGATCTGCTTGA	0.627																																						dbGAP											0													117.0	121.0	120.0					6																	39159242		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.924C>T	6.37:g.39159242G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.I308	ENST00000359534.3	37	c.924	CCDS4841.1	6																																																																																			KCNK5	-	NULL	ENSG00000164626		0.627	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	27	0.00	0	G	NM_003740		39159242	39159242	-1	no_errors	ENST00000359534	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	0.023	A
KCNK9	51305	genome.wustl.edu	37	8	140630978	140630978	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:140630978C>A	ENST00000520439.1	-	2	711	c.648G>T	c.(646-648)aaG>aaT	p.K216N	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.K216N	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	216					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	AGAGCGGCTTCTTCTGCAGGG	0.557																																						dbGAP											0													59.0	63.0	62.0					8																	140630978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.648G>T	8.37:g.140630978C>A	ENSP00000430676:p.Lys216Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M290|Q540F2	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.K216N	ENST00000520439.1	37	c.648	CCDS6377.1	8	.	.	.	.	.	.	.	.	.	.	C	3.277	-0.147919	0.06627	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.24538	1.85;1.85;1.85	5.85	4.98	0.66077	Ion transport 2 (1);	0.272711	0.29876	U	0.010970	T	0.12646	0.0307	N	0.04260	-0.245	0.46521	D	0.999083	B	0.10296	0.003	B	0.15484	0.013	T	0.10683	-1.0619	10	0.15499	T	0.54	.	14.0919	0.64995	0.0:0.9282:0.0:0.0718	.	216	Q9NPC2	KCNK9_HUMAN	N	216	ENSP00000429847:K216N;ENSP00000302166:K216N;ENSP00000430676:K216N	ENSP00000302166:K216N	K	-	3	2	KCNK9	140700160	1.000000	0.71417	0.995000	0.50966	0.482000	0.33219	3.653000	0.54446	1.470000	0.48102	-0.140000	0.14226	AAG	KCNK9	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000169427		0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	87	0.00	0	C	NM_016601		140630978	140630978	-1	no_errors	ENST00000303015	ensembl	human	known	69_37n	missense	69	16.28	14	SNP	1.000	A
KCNMA1	3778	genome.wustl.edu	37	10	78943194	78943194	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:78943194T>G	ENST00000286628.8	-	5	792	c.793A>C	c.(793-795)Aac>Cac	p.N265H	KCNMA1_ENST00000354353.5_Missense_Mutation_p.N265H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N265H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N265H|KCNMA1_ENST00000286627.5_Missense_Mutation_p.N265H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N265H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.N265H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.N265H	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	265					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAACTTCTGTTTAAGTACACA	0.488																																						dbGAP											0													93.0	79.0	84.0					10																	78943194		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.793A>C	10.37:g.78943194T>G	ENSP00000286628:p.Asn265His	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.N265H	ENST00000286628.8	37	c.793		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.43|15.43|15.43	2.829862|2.829862|2.829862	0.50845|0.50845|0.50845	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	.|T;T;T;T;T;T;T;T;T|.	.|0.41758|.	.|0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99|.	5.92|5.92|5.92	4.74|4.74|4.74	0.60224|0.60224|0.60224	.|Ion transport (1);|.	.|0.047463|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.53334|0.53334|.	0.1790|0.1790|.	L|L|L	0.31476|0.31476|0.31476	0.935|0.935|0.935	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B;B;B;B;B|.	.|0.22541|.	.|0.071;0.001;0.003;0.005;0.002;0.001|.	.|B;B;B;B;B;B|.	.|0.26770|.	.|0.073;0.008;0.008;0.014;0.005;0.008|.	T|T|.	0.49679|0.49679|.	-0.8914|-0.8914|.	5|10|.	.|0.62326|.	.|D|.	.|0.03|.	-18.8211|-18.8211|-18.8211	13.3194|13.3194|13.3194	0.60424|0.60424|0.60424	0.0:0.0:0.1315:0.8685|0.0:0.0:0.1315:0.8685|0.0:0.0:0.1315:0.8685	.|.|.	.|265;265;265;265;265;265|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.|.	T|H|Y	253|265;202;200;239;202;265;265;239;265;265;265;47|215	.|ENSP00000361517:N265H;ENSP00000361485:N202H;ENSP00000361514:N200H;ENSP00000396608:N239H;ENSP00000361520:N265H;ENSP00000286627:N265H;ENSP00000385552:N265H;ENSP00000346321:N265H;ENSP00000385806:N265H|.	.|ENSP00000286627:N265H|.	K|N|X	-|-|-	2|1|3	0|0|2	KCNMA1|KCNMA1|KCNMA1	78613200|78613200|78613200	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	6.197000|6.197000|6.197000	0.72100|0.72100|0.72100	2.267000|2.267000|2.267000	0.75376|0.75376|0.75376	0.383000|0.383000|0.383000	0.25322|0.25322|0.25322	AAA|AAC|TAA	KCNMA1	-	pfam_Ion_trans_dom	ENSG00000156113		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	403	0.00	0	T	NM_002247		78943194	78943194	-1	no_errors	ENST00000406533	ensembl	human	known	69_37n	missense	272	12.26	38	SNP	1.000	G
KCNMB2	10242	genome.wustl.edu	37	3	178543456	178543456	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:178543456G>A	ENST00000432997.1	+	3	489	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R46Q|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R46Q|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R46Q	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	57					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GGAGAGGACCGAGCTATTCTC	0.458																																						dbGAP											0													214.0	200.0	205.0					3																	178543456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.137G>A	3.37:g.178543456G>A	ENSP00000407592:p.Arg46Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.R46Q	ENST00000432997.1	37	c.137	CCDS3223.1	3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970775	0.92919	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000455865;ENST00000358316	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.38	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	M	0.74467	2.265	0.51767	D	0.999933	B;D	0.89917	0.04;1.0	B;D	0.87578	0.028;0.998	T	0.26849	-1.0091	10	0.87932	D	0	-9.5348	14.125	0.65215	0.0724:0.0:0.9276:0.0	.	46;46	B5BNW9;Q9Y691	.;KCMB2_HUMAN	Q	46	ENSP00000395807:R46Q;ENSP00000408252:R46Q;ENSP00000397483:R46Q;ENSP00000407592:R46Q;ENSP00000399100:R46Q;ENSP00000351068:R46Q	ENSP00000351068:R46Q	R	+	2	0	KCNMB2	180026150	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	9.476000	0.97823	1.289000	0.44618	0.650000	0.86243	CGA	KCNMB2	-	pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu	ENSG00000197584		0.458	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	266	0.37	1	G	NM_181361		178543456	178543456	+1	no_errors	ENST00000358316	ensembl	human	known	69_37n	missense	189	24.00	60	SNP	1.000	A
KCNMB2	10242	genome.wustl.edu	37	3	178560465	178560465	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:178560465A>C	ENST00000432997.1	+	5	800	c.448A>C	c.(448-450)Aaa>Caa	p.K150Q	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.K150Q|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.K150Q|KCNMB2_ENST00000452583.1_Missense_Mutation_p.K150Q	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	162					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	TAAATGTGGAAAAAATTTTGA	0.398																																						dbGAP											0													81.0	83.0	83.0					3																	178560465		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.448A>C	3.37:g.178560465A>C	ENSP00000407592:p.Lys150Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.K150Q	ENST00000432997.1	37	c.448	CCDS3223.1	3	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819959	0.50633	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	6.06	6.06	0.98353	.	0.086330	0.85682	D	0.000000	T	0.17023	0.0409	N	0.24115	0.695	0.52099	D	0.999944	D	0.64830	0.994	P	0.59761	0.863	T	0.13980	-1.0489	10	0.19590	T	0.45	-12.7329	16.6093	0.84858	1.0:0.0:0.0:0.0	.	150	Q9Y691	KCMB2_HUMAN	Q	150;150;150;150;131	ENSP00000408252:K150Q;ENSP00000397483:K150Q;ENSP00000407592:K150Q;ENSP00000351068:K150Q	ENSP00000351068:K150Q	K	+	1	0	KCNMB2	180043159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.672000	0.91181	2.324000	0.78689	0.533000	0.62120	AAA	KCNMB2	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000197584		0.398	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	105	0.00	0	A	NM_181361		178560465	178560465	+1	no_errors	ENST00000358316	ensembl	human	known	69_37n	missense	80	28.57	32	SNP	1.000	C
KCNQ4	9132	genome.wustl.edu	37	1	41304029	41304029	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:41304029C>T	ENST00000347132.5	+	14	2004	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.S587L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	641	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GGCTTCTATTCGCGCTGCCTG	0.692																																						dbGAP											0													91.0	92.0	91.0					1																	41304029		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1922C>T	1.37:g.41304029C>T	ENSP00000262916:p.Ser641Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.S641L	ENST00000347132.5	37	c.1922	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190476	0.38707	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99660	-6.32;-6.32	4.79	4.79	0.61399	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.98673	0.9555	L	0.41236	1.265	0.50467	D	0.999879	B;P	0.49358	0.107;0.923	B;P	0.47673	0.041;0.554	D	0.99087	1.0839	10	0.31617	T	0.26	-10.1162	15.3194	0.74109	0.0:1.0:0.0:0.0	.	587;641	P56696-2;P56696	.;KCNQ4_HUMAN	L	641;587	ENSP00000262916:S641L;ENSP00000423756:S587L	ENSP00000262916:S641L	S	+	2	0	KCNQ4	41076616	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.850000	0.62889	2.218000	0.71995	0.313000	0.20887	TCG	KCNQ4	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000117013		0.692	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1	74	0.00	0	C	NM_004700		41304029	41304029	+1	no_errors	ENST00000347132	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	T
KCNQ5	56479	genome.wustl.edu	37	6	73904266	73904266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:73904266C>A	ENST00000370398.1	+	14	2037	c.1928C>A	c.(1927-1929)tCa>tAa	p.S643*	KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.S634*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.S662*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.S653*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.S644*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.S533*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.S643*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	643					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCTTTGGCTTCATTCCAGATC	0.483																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													91.0	86.0	87.0					6																	73904266		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1928C>A	6.37:g.73904266C>A	ENSP00000359425:p.Ser643*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.S653*	ENST00000370398.1	37	c.1958	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.576413	0.98870	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	.	.	.	5.47	5.47	0.80525	.	0.000000	0.29853	U	0.011040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4688	19.3268	0.94265	0.0:1.0:0.0:0.0	.	.	.	.	X	662;662;643;643;653;644;634;533	.	ENSP00000345055:S662X	S	+	2	0	KCNQ5	73960987	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.563000	0.86464	0.561000	0.74099	TCA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000185760		0.483	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	148	0.00	0	C	NM_019842		73904266	73904266	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	nonsense	68	25.27	23	SNP	1.000	A
KCNQ5	56479	genome.wustl.edu	37	6	73904444	73904444	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:73904444C>A	ENST00000370398.1	+	14	2215	c.2106C>A	c.(2104-2106)ttC>ttA	p.F702L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.F693L|KCNQ5_ENST00000342056.2_Missense_Mutation_p.F721L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.F712L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.F703L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.F592L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.F702L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	702					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CCCAGACTTTCTACGCGCTTA	0.507																																					GBM(142;1375 1859 14391 23261 44706)	dbGAP											0													134.0	133.0	133.0					6																	73904444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2106C>A	6.37:g.73904444C>A	ENSP00000359425:p.Phe702Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F712L	ENST00000370398.1	37	c.2136	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855894	0.32791	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99270	-5.46;-5.47;-5.47;-5.46;-5.47;-5.5;-5.66	5.32	4.45	0.53987	.	0.136123	0.51477	D	0.000089	D	0.94850	0.8336	L	0.34521	1.04	0.22096	N	0.999362	B;B;B;B;B	0.26363	0.147;0.001;0.0;0.0;0.001	B;B;B;B;B	0.23018	0.043;0.002;0.001;0.002;0.002	D	0.87546	0.2462	10	0.10636	T	0.68	.	16.1769	0.81857	0.0:0.8667:0.1333:0.0	.	592;712;721;693;702	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	L	721;721;702;702;712;703;693;592	ENSP00000345055:F721L;ENSP00000347326:F702L;ENSP00000359425:F702L;ENSP00000385501:F712L;ENSP00000347853:F703L;ENSP00000384453:F693L;ENSP00000409861:F592L	ENSP00000345055:F721L	F	+	3	2	KCNQ5	73961165	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.055000	0.57441	1.230000	0.43646	0.561000	0.74099	TTC	KCNQ5	-	NULL	ENSG00000185760		0.507	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	198	0.00	0	C	NM_019842		73904444	73904444	+1	no_errors	ENST00000402622	ensembl	human	known	69_37n	missense	105	30.26	46	SNP	1.000	A
KCNS1	3787	genome.wustl.edu	37	20	43723695	43723695	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43723695C>T	ENST00000306117.1	-	5	1793	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	KCNS1_ENST00000537075.1_Missense_Mutation_p.R466H	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	466					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				AGCCTTCTGGCGCCGGTAGAA	0.587																																						dbGAP											0													100.0	100.0	100.0					20																	43723695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1397G>A	20.37:g.43723695C>T	ENSP00000307694:p.Arg466His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.R466H	ENST00000306117.1	37	c.1397	CCDS13342.1	20	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872212	0.72180	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96774	-4.12;-4.12	5.57	5.57	0.84162	.	0.121036	0.51477	D	0.000095	D	0.94456	0.8216	L	0.27053	0.805	0.34731	D	0.729779	D	0.71674	0.998	P	0.54100	0.742	D	0.95770	0.8808	10	0.62326	D	0.03	.	9.7701	0.40585	0.0:0.8419:0.0:0.1581	.	466	Q96KK3	KCNS1_HUMAN	H	466	ENSP00000307694:R466H;ENSP00000445595:R466H	ENSP00000307694:R466H	R	-	2	0	KCNS1	43157109	0.278000	0.24230	1.000000	0.80357	0.994000	0.84299	1.831000	0.39141	2.619000	0.88677	0.561000	0.74099	CGC	KCNS1	-	NULL	ENSG00000124134		0.587	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	95	0.00	0	C	NM_002251		43723695	43723695	-1	no_errors	ENST00000306117	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	1.000	T
KCNT1	57582	genome.wustl.edu	37	9	138669251	138669251	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:138669251C>T	ENST00000263604.3	+	21	2360	c.2360C>T	c.(2359-2361)tCg>tTg	p.S787L	KCNT1_ENST00000491806.2_Missense_Mutation_p.S773L|KCNT1_ENST00000371757.2_Missense_Mutation_p.S806L|KCNT1_ENST00000486577.2_Missense_Mutation_p.S765L|KCNT1_ENST00000298480.5_Missense_Mutation_p.S806L|KCNT1_ENST00000487664.1_Missense_Mutation_p.S761L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S787L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S785L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	787					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S806L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ATCATCGTCTCGGCAGAGACG	0.597																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											109.0	95.0	100.0					9																	138669251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2360C>T	9.37:g.138669251C>T	ENSP00000263604:p.Ser787Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.S806L	ENST00000263604.3	37	c.2417		9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952191	0.73787	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.38	4.38	0.52667	.	0.000000	0.64402	U	0.000001	T	0.80681	0.4669	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.62365	0.973;0.985;0.991;0.973	P;P;P;P	0.55545	0.505;0.604;0.778;0.449	D	0.83659	0.0160	10	0.66056	D	0.02	-33.7199	16.9486	0.86237	0.0:1.0:0.0:0.0	.	773;806;761;787	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	L	761;806;806;765;773;787;785;787	ENSP00000417851:S761L;ENSP00000298480:S806L;ENSP00000360822:S806L;ENSP00000263604:S787L	ENSP00000263604:S787L	S	+	2	0	KCNT1	137809072	1.000000	0.71417	0.417000	0.26559	0.320000	0.28249	7.643000	0.83403	1.976000	0.57569	0.561000	0.74099	TCG	KCNT1	-	NULL	ENSG00000107147		0.597	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		76	0.00	0	C	NM_020822		138669251	138669251	+1	no_errors	ENST00000298480	ensembl	human	known	69_37n	missense	44	38.89	28	SNP	0.995	T
KCNT2	343450	genome.wustl.edu	37	1	196197455	196197455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:196197455G>A	ENST00000294725.9	-	28	4222	c.3307C>T	c.(3307-3309)Cga>Tga	p.R1103*	KCNT2_ENST00000609185.1_Nonsense_Mutation_p.R1036*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R1037*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.R1079*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1103					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGATCTGGTCGAATTAAGTAT	0.363																																						dbGAP											0													53.0	51.0	52.0					1																	196197455		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3307C>T	1.37:g.196197455G>A	ENSP00000294725:p.Arg1103*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.R1103*	ENST00000294725.9	37	c.3307	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.477409	0.97598	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.71	1.57	0.23409	.	0.000000	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8176	9.0501	0.36372	0.0666:0.0:0.4353:0.4981	.	.	.	.	X	1079;1037;1103	.	ENSP00000294725:R1103X	R	-	1	2	KCNT2	194464078	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	1.208000	0.32345	0.032000	0.15435	-0.158000	0.13435	CGA	KCNT2	-	NULL	ENSG00000162687		0.363	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	201	0.00	0	G	NM_198503		196197455	196197455	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	nonsense	94	34.27	49	SNP	0.997	A
KCNT2	343450	genome.wustl.edu	37	1	196295846	196295846	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:196295846C>T	ENST00000294725.9	-	19	3192		c.e19+1		KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATATACTTACGGGTTATCCA	0.279																																						dbGAP											0													49.0	50.0	49.0					1																	196295846		2202	4293	6495	-	-	-	SO:0001630	splice_region_variant	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2276+1G>A	1.37:g.196295846C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	-	e19+1	ENST00000294725.9	37	c.2276+1	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784721	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194562469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.608000	0.88229	0.650000	0.86243	.	KCNT2	-	-	ENSG00000162687		0.279	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	161	0.00	0	C	NM_198503	Intron	196295846	196295846	-1	no_errors	ENST00000294725	ensembl	human	known	69_37n	splice_site	139	11.46	18	SNP	1.000	T
KCTD14	65987	genome.wustl.edu	37	11	77727731	77727731	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:77727731A>G	ENST00000353172.5	-	2	720	c.676T>C	c.(676-678)Tac>Cac	p.Y226H	KCTD14_ENST00000533144.1_Missense_Mutation_p.Y196H|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	226					protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AATACCTTGTACCCCTGGGCC	0.483																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	dbGAP											0													158.0	140.0	146.0					11																	77727731		2200	4292	6492	-	-	-	SO:0001583	missense	0			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.676T>C	11.37:g.77727731A>G	ENSP00000316482:p.Tyr226His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9R8	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.Y226H	ENST00000353172.5	37	c.676	CCDS8255.2	11	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977750	0.74360	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.68331	-0.32;-0.28	4.49	4.49	0.54785	.	1.695390	0.03147	N	0.167462	D	0.84433	0.5471	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69179	-0.5213	10	0.87932	D	0	.	13.1595	0.59537	1.0:0.0:0.0:0.0	.	226	Q9BQ13	KCD14_HUMAN	H	226;196	ENSP00000316482:Y226H;ENSP00000431155:Y196H	ENSP00000316482:Y226H	Y	-	1	0	KCTD14	77405379	1.000000	0.71417	0.947000	0.38551	0.733000	0.41908	8.347000	0.90062	1.901000	0.55032	0.528000	0.53228	TAC	KCTD14	-	NULL	ENSG00000151364		0.483	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	192	0.00	0	A	NM_023930		77727731	77727731	-1	no_errors	ENST00000353172	ensembl	human	known	69_37n	missense	174	12.94	26	SNP	1.000	G
KCTD18	130535	genome.wustl.edu	37	2	201369515	201369515	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:201369515C>A	ENST00000359878.3	-	3	838	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Nonsense_Mutation_p.E110*	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	110					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCTCCATTTCATTGGCCAAA	0.373																																						dbGAP											0													85.0	74.0	78.0					2																	201369515		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.328G>T	2.37:g.201369515C>A	ENSP00000352941:p.Glu110*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.E110*	ENST00000359878.3	37	c.328	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.936631	0.99008	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-29.3338	19.5069	0.95121	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000352941:E110X	E	-	1	0	KCTD18	201077760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.180000	0.58296	2.941000	0.99782	0.655000	0.94253	GAA	KCTD18	-	superfamily_BTB/POZ_fold	ENSG00000155729		0.373	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	119	0.00	0	C	NM_152387		201369515	201369515	-1	no_errors	ENST00000359878	ensembl	human	known	69_37n	nonsense	81	14.74	14	SNP	1.000	A
KCTD20	222658	genome.wustl.edu	37	6	36442733	36442733	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:36442733A>C	ENST00000373731.2	+	3	719	c.328A>C	c.(328-330)Aat>Cat	p.N110H	KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000536244.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	110					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CTTTGGCAGTAATTCCCATTC	0.438																																						dbGAP											0													125.0	121.0	122.0					6																	36442733		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.328A>C	6.37:g.36442733A>C	ENSP00000362836:p.Asn110His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.N110H	ENST00000373731.2	37	c.328	CCDS4821.1	6	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595005	0.46318	.	.	ENSG00000112078	ENST00000373731	T	0.46063	0.88	5.05	3.85	0.44370	.	0.441731	0.21268	N	0.077377	T	0.14614	0.0353	N	0.24115	0.695	0.41741	D	0.989615	B	0.31790	0.34	B	0.33890	0.172	T	0.04621	-1.0938	10	0.34782	T	0.22	-12.1441	9.8044	0.40783	0.9209:0.0:0.0791:0.0	.	110	Q7Z5Y7	KCD20_HUMAN	H	110	ENSP00000362836:N110H	ENSP00000362836:N110H	N	+	1	0	KCTD20	36550711	0.960000	0.32886	0.740000	0.30986	0.969000	0.65631	2.567000	0.45956	0.897000	0.36392	0.533000	0.62120	AAT	KCTD20	-	NULL	ENSG00000112078		0.438	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD20	HGNC	protein_coding	OTTHUMT00000040345.2	163	0.00	0	A	NM_173562		36442733	36442733	+1	no_errors	ENST00000373731	ensembl	human	known	69_37n	missense	119	12.50	17	SNP	0.568	C
KDM1A	23028	genome.wustl.edu	37	1	23381583	23381583	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:23381583G>A	ENST00000356634.3	+	5	901	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	KDM1A_ENST00000542151.1_Missense_Mutation_p.R271Q|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.R271Q|MIR4419A_ENST00000583845.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	251	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTTGTCCACCGAGTTCACAGT	0.383																																						dbGAP											0													218.0	215.0	216.0					1																	23381583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.752G>A	1.37:g.23381583G>A	ENSP00000349049:p.Arg251Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.R271Q	ENST00000356634.3	37	c.812	CCDS30627.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.365304	0.95877	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.34859	1.37;1.34;1.34	5.31	4.4	0.53042	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.75484	0.976;0.986	T	0.58532	-0.7620	10	0.29301	T	0.29	-17.3172	13.5557	0.61757	0.0755:0.0:0.9245:0.0	.	271;251	O60341-2;O60341	.;KDM1A_HUMAN	Q	251;271;271	ENSP00000349049:R251Q;ENSP00000383042:R271Q;ENSP00000439072:R271Q	ENSP00000349049:R251Q	R	+	2	0	KDM1A	23254170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.680000	0.98651	1.378000	0.46305	0.655000	0.94253	CGA	KDM1A	-	pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	ENSG00000004487		0.383	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	212	0.00	0	G	NM_015013		23381583	23381583	+1	no_errors	ENST00000542151	ensembl	human	known	69_37n	missense	153	13.48	24	SNP	1.000	A
KCTD3	51133	genome.wustl.edu	37	1	215775437	215775437	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:215775437G>A	ENST00000259154.4	+	12	1326	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	344					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATGCAGAAGTTCCCCTTGC	0.299																																						dbGAP											0													73.0	69.0	70.0					1																	215775437		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1032G>A	1.37:g.215775437G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.K344	ENST00000259154.4	37	c.1032	CCDS1515.1	1																																																																																			KCTD3	-	superfamily_WD40_repeat_dom	ENSG00000136636		0.299	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	112	0.00	0	G	NM_016121		215775437	215775437	+1	no_errors	ENST00000259154	ensembl	human	known	69_37n	silent	85	16.50	17	SNP	1.000	A
KDM2A	22992	genome.wustl.edu	37	11	66947566	66947566	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:66947566G>A	ENST00000529006.2	+	3	505	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	KDM2A_ENST00000398645.2_Missense_Mutation_p.R20Q	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	20					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACCATGCGACGACGCTATGAA	0.388																																						dbGAP											0													101.0	97.0	98.0					11																	66947566		1925	4120	6045	-	-	-	SO:0001583	missense	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.59G>A	11.37:g.66947566G>A	ENSP00000432786:p.Arg20Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R20Q	ENST00000529006.2	37	c.59	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465049	0.84425	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	T;T	0.48522	0.81;2.1	5.55	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.40543	1.245	0.80722	D	1	D	0.58620	0.983	P	0.44422	0.449	T	0.16897	-1.0387	10	0.15066	T	0.55	-14.3072	14.0067	0.64468	0.0:0.1525:0.8475:0.0	.	20	Q9Y2K7	KDM2A_HUMAN	Q	20	ENSP00000381640:R20Q;ENSP00000432786:R20Q	ENSP00000381640:R20Q	R	+	2	0	KDM2A	66704142	0.999000	0.42202	0.888000	0.34837	0.984000	0.73092	6.588000	0.74076	1.545000	0.49373	0.655000	0.94253	CGA	KDM2A	-	NULL	ENSG00000173120		0.388	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	196	0.00	0	G	NM_012308		66947566	66947566	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	missense	148	10.30	17	SNP	0.610	A
KDM3A	55818	genome.wustl.edu	37	2	86693560	86693560	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:86693560G>T	ENST00000409556.1	+	11	1438	c.1073G>T	c.(1072-1074)aGa>aTa	p.R358I	KDM3A_ENST00000312912.5_Missense_Mutation_p.R358I|KDM3A_ENST00000409064.1_Missense_Mutation_p.R358I|KDM3A_ENST00000542128.1_Missense_Mutation_p.R306I			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	358					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAGCTCTGAGAACAAAACCA	0.398																																					NSCLC(96;1150 1523 6936 46253 49736)	dbGAP											0													99.0	116.0	110.0					2																	86693560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1073G>T	2.37:g.86693560G>T	ENSP00000386660:p.Arg358Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R358I	ENST00000409556.1	37	c.1073	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567090	0.45694	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.93	5.06	0.68205	.	0.167296	0.42172	D	0.000758	T	0.38453	0.1041	N	0.19112	0.55	0.42507	D	0.992956	P;P	0.37276	0.589;0.454	B;B	0.35971	0.215;0.107	T	0.33420	-0.9869	10	0.44086	T	0.13	.	6.6231	0.22814	0.1564:0.1484:0.6952:0.0	.	306;358	F5H070;Q9Y4C1	.;KDM3A_HUMAN	I	358;358;358;358;306	ENSP00000386660:R358I;ENSP00000323659:R358I;ENSP00000386516:R358I;ENSP00000438324:R306I	ENSP00000323659:R358I	R	+	2	0	KDM3A	86547071	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.198000	0.32223	1.501000	0.48654	0.655000	0.94253	AGA	KDM3A	-	NULL	ENSG00000115548		0.398	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	114	0.00	0	G	NM_018433		86693560	86693560	+1	no_errors	ENST00000312912	ensembl	human	known	69_37n	missense	65	10.96	8	SNP	0.996	T
KDM4B	23030	genome.wustl.edu	37	19	5041185	5041185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:5041185G>T	ENST00000159111.4	+	5	573	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	KDM4B_ENST00000536461.1_Nonsense_Mutation_p.E119*|KDM4B_ENST00000381759.4_Nonsense_Mutation_p.E119*	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	119					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGATGACCTTGAACGCAAATA	0.562																																						dbGAP											0													137.0	123.0	128.0					19																	5041185		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.355G>T	19.37:g.5041185G>T	ENSP00000159111:p.Glu119*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E119*	ENST00000159111.4	37	c.355	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.237435	0.97403	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.2373	17.6411	0.88137	0.0:0.0:1.0:0.0	.	.	.	.	X	119	.	ENSP00000159111:E119X	E	+	1	0	KDM4B	4992185	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.479000	0.97929	2.401000	0.81631	0.561000	0.74099	GAA	KDM4B	-	NULL	ENSG00000127663		0.562	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	27	0.00	0	G	NM_015015		5041185	5041185	+1	no_errors	ENST00000159111	ensembl	human	known	69_37n	nonsense	24	27.27	9	SNP	1.000	T
KDM4C	23081	genome.wustl.edu	37	9	7103847	7103847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:7103847C>T	ENST00000381309.3	+	18	3152	c.2587C>T	c.(2587-2589)Cga>Tga	p.R863*	KDM4C_ENST00000442236.2_Nonsense_Mutation_p.R608*|KDM4C_ENST00000381306.3_Nonsense_Mutation_p.R863*|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000428870.2_Nonsense_Mutation_p.R550*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	863					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TACATGCTTTCGACATAAGGT	0.527																																						dbGAP											0													161.0	119.0	133.0					9																	7103847		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2587C>T	9.37:g.7103847C>T	ENSP00000370710:p.Arg863*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.R863*	ENST00000381309.3	37	c.2587	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	45	11.935206	0.99619	.	.	ENSG00000107077	ENST00000381309;ENST00000381306;ENST00000442236;ENST00000428870;ENST00000420847	.	.	.	5.91	1.62	0.23740	.	0.109178	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4693	0.44626	0.5709:0.3238:0.1053:0.0	.	.	.	.	X	863;863;608;550;207	.	ENSP00000370707:R863X	R	+	1	2	KDM4C	7093847	0.937000	0.31787	0.990000	0.47175	0.951000	0.60555	1.300000	0.33436	0.336000	0.23639	0.655000	0.94253	CGA	KDM4C	-	smart_Znf_PHD	ENSG00000107077		0.527	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	263	0.00	0	C	NM_015061		7103847	7103847	+1	no_errors	ENST00000381309	ensembl	human	known	69_37n	nonsense	160	26.27	57	SNP	1.000	T
KDM5A	5927	genome.wustl.edu	37	12	432896	432896	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:432896G>A	ENST00000399788.2	-	15	2382	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R674W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	674					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GAACACTGCCGCTCATCATCA	0.418			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													126.0	127.0	127.0					12																	432896		1958	4167	6125	-	-	-	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2020C>T	12.37:g.432896G>A	ENSP00000382688:p.Arg674Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R674W	ENST00000399788.2	37	c.2020	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344398	0.82022	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	D;D;D	0.87334	-2.24;-2.05;-1.76	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.99;1.0	D;D;P;D	0.97110	0.99;1.0;0.849;1.0	D	0.94858	0.8019	10	0.87932	D	0	-10.6469	14.4354	0.67277	0.0:0.0:0.732:0.268	.	293;674;674;674	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	W	293;633;674;674;293	ENSP00000382688:R674W;ENSP00000372265:R674W;ENSP00000440622:R293W	ENSP00000261253:R293W	R	-	1	2	KDM5A	303157	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.405000	0.66351	1.575000	0.49775	0.655000	0.94253	CGG	KDM5A	-	NULL	ENSG00000073614		0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	370	0.00	0	G	NM_005056		432896	432896	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	missense	203	24.81	67	SNP	1.000	A
KDM5A	5927	genome.wustl.edu	37	12	464403	464403	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:464403C>T	ENST00000399788.2	-	7	1153	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.R264Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	264					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTTCGTCTTCGGGTGACCTC	0.358			T	NUP98	AML																																	dbGAP		Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													117.0	110.0	112.0					12																	464403		1862	4094	5956	-	-	-	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.791G>A	12.37:g.464403C>T	ENSP00000382688:p.Arg264Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R264Q	ENST00000399788.2	37	c.791	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034072	0.35893	.	.	ENSG00000073614	ENST00000399787;ENST00000399788;ENST00000382815	D;D	0.84873	-1.91;-1.72	5.49	4.54	0.55810	.	0.573901	0.18355	N	0.143767	T	0.67458	0.2895	N	0.14661	0.345	0.27240	N	0.959172	P;B;B	0.47106	0.89;0.226;0.227	B;B;B	0.34418	0.182;0.03;0.04	T	0.61826	-0.6983	10	0.27785	T	0.31	-0.5855	9.7298	0.40355	0.0:0.7848:0.1418:0.0734	.	264;264;264	F5H1F7;P29375;P29375-2	.;KDM5A_HUMAN;.	Q	223;264;264	ENSP00000382688:R264Q;ENSP00000372265:R264Q	ENSP00000372265:R264Q	R	-	2	0	KDM5A	334664	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.583000	0.46094	2.779000	0.95612	0.573000	0.79308	CGA	KDM5A	-	NULL	ENSG00000073614		0.358	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	248	0.00	0	C	NM_005056		464403	464403	-1	no_errors	ENST00000399788	ensembl	human	known	69_37n	missense	166	18.14	37	SNP	1.000	T
KDM5B	10765	genome.wustl.edu	37	1	202719899	202719899	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:202719899C>T	ENST00000367265.3	-	13	2873	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	KDM5B_ENST00000456180.1_5'Flank|KDM5B_ENST00000367264.2_Missense_Mutation_p.R606Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	570	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGATTAGTTCGGTAAACCTA	0.363																																						dbGAP											0													89.0	92.0	91.0					1																	202719899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1709G>A	1.37:g.202719899C>T	ENSP00000356234:p.Arg570Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R570Q	ENST00000367265.3	37	c.1709	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.805710	0.96967	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.71934	-0.61;-0.61;-0.61	5.15	5.15	0.70609	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.80764	0.754;0.994	D	0.87222	0.2254	10	0.87932	D	0	-10.5821	18.991	0.92793	0.0:1.0:0.0:0.0	.	606;570	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	Q	570;412;606;412	ENSP00000356234:R570Q;ENSP00000356233:R606Q;ENSP00000235790:R412Q	ENSP00000235790:R412Q	R	-	2	0	KDM5B	200986522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.728000	0.84847	2.564000	0.86499	0.643000	0.83706	CGA	KDM5B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000117139		0.363	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	257	0.00	0	C	NM_006618		202719899	202719899	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	236	12.92	35	SNP	1.000	T
KDM8	79831	genome.wustl.edu	37	16	27215425	27215425	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:27215425G>T	ENST00000286096.4	+	1	142				KDM8_ENST00000441782.2_Missense_Mutation_p.E4D|KDM8_ENST00000380948.2_Intron	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8						G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										TGAGCCGCGAGAAATGCAGCC	0.657																																						dbGAP											0													14.0	19.0	18.0					16																	27215425		691	1589	2280	-	-	-	SO:0001627	intron_variant	0			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.-32+468G>T	16.37:g.27215425G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E4D	ENST00000286096.4	37	c.12	CCDS10627.1	16	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480136	0.44044	.	.	ENSG00000155666	ENST00000441782	T	0.24908	1.83	3.17	-1.3	0.09259	.	.	.	.	.	T	0.13072	0.0317	.	.	.	0.09310	N	0.999996	B	0.11235	0.004	B	0.08055	0.003	T	0.29274	-1.0017	8	0.39692	T	0.17	.	0.6607	0.00842	0.235:0.1899:0.3809:0.1943	.	4	Q8N371-3	.	D	4	ENSP00000398410:E4D	ENSP00000398410:E4D	E	+	3	2	JMJD5	27122926	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.115000	0.10741	-0.217000	0.10033	-0.136000	0.14681	GAG	KDM8	-	NULL	ENSG00000155666		0.657	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	38	0.00	0	G	NM_024773		27215425	27215425	+1	no_errors	ENST00000441782	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	0.000	T
KDR	3791	genome.wustl.edu	37	4	55961799	55961799	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:55961799A>C	ENST00000263923.4	-	20	3057	c.2762T>G	c.(2761-2763)tTt>tGt	p.F921C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	921	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGTTTCCAAATTTGCAGAA	0.428			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													114.0	111.0	112.0					4																	55961799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2762T>G	4.37:g.55961799A>C	ENSP00000263923:p.Phe921Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.F921C	ENST00000263923.4	37	c.2762	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615449	0.66672	.	.	ENSG00000128052	ENST00000263923	D	0.89123	-2.47	5.98	4.78	0.61160	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.163432	0.56097	D	0.000030	D	0.87672	0.6236	N	0.12611	0.24	0.39909	D	0.974006	D	0.89917	1.0	D	0.71870	0.975	D	0.88887	0.3343	10	0.72032	D	0.01	.	10.4534	0.44535	0.7401:0.0:0.0:0.2599	.	921	P35968	VGFR2_HUMAN	C	921	ENSP00000263923:F921C	ENSP00000263923:F921C	F	-	2	0	KDR	55656556	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	5.685000	0.68204	1.039000	0.40074	0.533000	0.62120	TTT	KDR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000128052		0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	378	0.00	0	A			55961799	55961799	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	missense	190	26.64	69	SNP	1.000	C
KEAP1	9817	genome.wustl.edu	37	19	10610217	10610217	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:10610217C>T	ENST00000171111.5	-	2	1040	c.493G>A	c.(493-495)Gac>Aac	p.D165N	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.D165N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	165					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACAACGCTGTCGATCTGGTAC	0.582																																						dbGAP											0													171.0	136.0	148.0					19																	10610217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.493G>A	19.37:g.10610217C>T	ENSP00000171111:p.Asp165Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D165N	ENST00000171111.5	37	c.493	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705670	0.48412	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.68903	-0.36;-0.36	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.047547	0.85682	D	0.000000	T	0.47655	0.1457	N	0.25485	0.75	0.58432	D	0.999998	P	0.38565	0.637	B	0.28385	0.089	T	0.48625	-0.9019	10	0.14656	T	0.56	.	15.3825	0.74669	0.0:1.0:0.0:0.0	.	165	Q14145	KEAP1_HUMAN	N	165	ENSP00000171111:D165N;ENSP00000377245:D165N	ENSP00000171111:D165N	D	-	1	0	KEAP1	10471217	1.000000	0.71417	0.997000	0.53966	0.877000	0.50540	4.335000	0.59298	2.232000	0.73038	0.561000	0.74099	GAC	KEAP1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	92	0.00	0	C	NM_012289		10610217	10610217	-1	no_errors	ENST00000171111	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	1.000	T
KERA	11081	genome.wustl.edu	37	12	91449646	91449646	+	Missense_Mutation	SNP	G	G	T	rs375042903		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:91449646G>T	ENST00000266719.3	-	2	660	c.413C>A	c.(412-414)tCt>tAt	p.S138Y		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	138					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGCAATGGAGAAGGTACCTC	0.403																																						dbGAP											0													121.0	115.0	117.0					12																	91449646		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.413C>A	12.37:g.91449646G>T	ENSP00000266719:p.Ser138Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.S138Y	ENST00000266719.3	37	c.413	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129620	0.21041	.	.	ENSG00000139330	ENST00000266719	T	0.19669	2.13	6.08	6.08	0.98989	.	0.263171	0.43747	D	0.000522	T	0.35653	0.0939	L	0.46819	1.47	0.44643	D	0.997622	P	0.52170	0.951	P	0.52710	0.707	T	0.00719	-1.1595	10	0.59425	D	0.04	-24.3964	20.6634	0.99662	0.0:0.0:1.0:0.0	.	138	O60938	KERA_HUMAN	Y	138	ENSP00000266719:S138Y	ENSP00000266719:S138Y	S	-	2	0	KERA	89973777	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.330000	0.65899	2.894000	0.99253	0.655000	0.94253	TCT	KERA	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.403	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	242	0.00	0	G	NM_007035		91449646	91449646	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	missense	146	10.98	18	SNP	0.998	T
KERA	11081	genome.wustl.edu	37	12	91449844	91449844	+	Missense_Mutation	SNP	C	C	A	rs567010026	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:91449844C>A	ENST00000266719.3	-	2	462	c.215G>T	c.(214-216)aGa>aTa	p.R72I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	72					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.R72I(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						ATACCAAATTCTTGAAGGAAT	0.383													C|||	3	0.000599042	0.0	0.0	5008	,	,		19677	0.0		0.0	False		,,,				2504	0.0031					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	90.0	92.0					12																	91449844		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.215G>T	12.37:g.91449844C>A	ENSP00000266719:p.Arg72Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R72I	ENST00000266719.3	37	c.215	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988916	0.74589	.	.	ENSG00000139330	ENST00000266719	T	0.19394	2.15	5.84	5.84	0.93424	Leucine-rich repeat-containing N-terminal (1);	0.203715	0.52532	D	0.000066	T	0.54711	0.1875	M	0.88377	2.95	0.58432	D	0.999999	D	0.69078	0.997	D	0.76575	0.988	T	0.52961	-0.8505	10	0.29301	T	0.29	-17.7029	20.2033	0.98269	0.0:1.0:0.0:0.0	.	72	O60938	KERA_HUMAN	I	72	ENSP00000266719:R72I	ENSP00000266719:R72I	R	-	2	0	KERA	89973975	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.520000	0.60524	2.785000	0.95823	0.650000	0.86243	AGA	KERA	-	smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.383	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	320	0.00	0	C	NM_007035		91449844	91449844	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	missense	216	11.11	27	SNP	1.000	A
KIAA0020	9933	genome.wustl.edu	37	9	2830995	2830995	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:2830995G>A	ENST00000397885.2	-	7	850	c.644C>T	c.(643-645)tCg>tTg	p.S215L	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	215	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		AATATTTCTCGAATATTTGGC	0.308																																						dbGAP											0													35.0	34.0	34.0					9																	2830995		2187	4290	6477	-	-	-	SO:0001583	missense	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.644C>T	9.37:g.2830995G>A	ENSP00000380982:p.Ser215Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.S215L	ENST00000397885.2	37	c.644	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411060	0.83340	.	.	ENSG00000080608	ENST00000397885	T	0.15256	2.44	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.102994	0.64402	D	0.000003	T	0.29882	0.0747	M	0.74647	2.275	0.49915	D	0.999833	P;D	0.57571	0.944;0.98	B;P	0.45660	0.279;0.489	T	0.12604	-1.0541	10	0.87932	D	0	-11.314	18.4337	0.90636	0.0:0.0:1.0:0.0	.	75;215	B2RDG4;Q15397	.;K0020_HUMAN	L	215	ENSP00000380982:S215L	ENSP00000380982:S215L	S	-	2	0	KIAA0020	2820995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.002000	0.70693	2.590000	0.87494	0.650000	0.86243	TCG	KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000080608		0.308	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	118	0.00	0	G	NM_014878		2830995	2830995	-1	no_errors	ENST00000397885	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	1.000	A
KIAA0040	9674	genome.wustl.edu	37	1	175130129	175130129	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:175130129G>T	ENST00000423313.1	-	4	557	c.21C>A	c.(19-21)ttC>ttA	p.F7L	KIAA0040_ENST00000567124.1_5'Flank|KIAA0040_ENST00000444639.1_Missense_Mutation_p.F7L|KIAA0040_ENST00000545251.2_Missense_Mutation_p.F7L	NM_001162893.1|NM_001162895.1|NM_014656.2	NP_001156365.1|NP_001156367.1|NP_055471.2	Q15053	K0040_HUMAN	KIAA0040	0																	TAGAGCTGAAGAAGGCACTGA	0.532																																						dbGAP											0													99.0	92.0	94.0					1																	175130129		692	1591	2283	-	-	-	SO:0001583	missense	0			D25539		1q24-q25	2012-11-29			ENSG00000235750	ENSG00000235750			28950	protein-coding gene	gene with protein product							Standard	NM_014656		Approved		uc001gkn.3	Q15053	OTTHUMG00000034880	ENST00000423313.1:c.21C>A	1.37:g.175130129G>T	ENSP00000462172:p.Phe7Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H6|Q2NKQ0	Missense_Mutation	SNP	NULL	p.F7L	ENST00000423313.1	37	c.21		1																																																																																			KIAA0040	-	NULL	ENSG00000235750		0.532	KIAA0040-002	KNOWN	basic|appris_principal	protein_coding	KIAA0040	HGNC	protein_coding	OTTHUMT00000084420.3	510	0.00	0	G	NM_014656		175130129	175130129	-1	no_errors	ENST00000423313	ensembl	human	known	69_37n	missense	415	12.08	57	SNP	1.000	T
KIAA0100	9703	genome.wustl.edu	37	17	26955435	26955435	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26955435C>T	ENST00000528896.2	-	24	4516	c.4442G>A	c.(4441-4443)cGt>cAt	p.R1481H	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1338H|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1338H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1481						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAAAGATTACGTTTGAGTAC	0.478																																						dbGAP											0													171.0	152.0	158.0					17																	26955435		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4442G>A	17.37:g.26955435C>T	ENSP00000436773:p.Arg1481His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.R1481H	ENST00000528896.2	37	c.4442	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.344891	0.95807	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27557	1.67;1.66	5.65	5.65	0.86999	.	0.048873	0.85682	D	0.000000	T	0.53110	0.1776	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.43081	-0.9413	10	0.42905	T	0.14	.	19.7302	0.96179	0.0:1.0:0.0:0.0	.	1481	Q14667	K0100_HUMAN	H	1481;1451;1481;1338	ENSP00000436773:R1481H;ENSP00000446443:R1338H	ENSP00000005905:R1481H	R	-	2	0	KIAA0100	23979562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.155000	0.77445	2.677000	0.91161	0.655000	0.94253	CGT	KIAA0100	-	NULL	ENSG00000007202		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	253	0.00	0	C	NM_014680		26955435	26955435	-1	no_errors	ENST00000005905	ensembl	human	known	69_37n	missense	197	33.67	100	SNP	1.000	T
KIAA0196	9897	genome.wustl.edu	37	8	126075832	126075832	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:126075832G>A	ENST00000318410.7	-	11	1689	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	KIAA0196_ENST00000517845.1_Missense_Mutation_p.S299L	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	447					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATCCGCTCCGAACCCTCTTT	0.388																																						dbGAP											0													130.0	120.0	123.0					8																	126075832		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1340C>T	8.37:g.126075832G>A	ENSP00000318016:p.Ser447Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.S447L	ENST00000318410.7	37	c.1340	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.70|14.70	2.612578|2.612578	0.46631|0.46631	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.85629	.|-2.01;-2.01	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84320|0.84320	0.5446|0.5446	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|P;D	.|0.53745	.|0.722;0.962	.|B;P	.|0.45195	.|0.138;0.473	T|T	0.81219|0.81219	-0.1032|-0.1032	5|10	.|0.11182	.|T	.|0.66	-12.3212|-12.3212	19.7201|19.7201	0.96139|0.96139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|299;447	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	W|L	64|447;299	.|ENSP00000318016:S447L;ENSP00000429676:S299L	.|ENSP00000318016:S447L	R|S	-|-	1|2	2|0	KIAA0196|KIAA0196	126145014|126145014	1.000000|1.000000	0.71417|0.71417	0.803000|0.803000	0.32268|0.32268	0.921000|0.921000	0.55340|0.55340	9.864000|9.864000	0.99589|0.99589	2.661000|2.661000	0.90470|0.90470	0.561000|0.561000	0.74099|0.74099	CGG|TCG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.388	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	684	0.00	0	G	NM_014846		126075832	126075832	-1	no_errors	ENST00000318410	ensembl	human	known	69_37n	missense	450	23.78	141	SNP	1.000	A
KIAA0226L	80183	genome.wustl.edu	37	13	46919706	46919706	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46919706C>T	ENST00000429979.1	-	13	2265	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	KIAA0226L_ENST00000534925.1_Missense_Mutation_p.G419E|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.G397E|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.G554E|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.G487E|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.G397E|KIAA0226L_ENST00000378797.2_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	554										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						AGTCAAGTGTCCCGGCACCTG	0.527																																						dbGAP											0													50.0	50.0	50.0					13																	46919706		1973	4151	6124	-	-	-	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1661G>A	13.37:g.46919706C>T	ENSP00000396935:p.Gly554Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.G554E	ENST00000429979.1	37	c.1661	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420227	0.42918	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.40225	1.04;1.05;1.04;1.06	5.35	2.65	0.31530	.	.	.	.	.	T	0.17704	0.0425	N	0.05177	-0.1	0.21105	N	0.999786	B;B;B;B;B	0.17465	0.002;0.002;0.022;0.001;0.002	B;B;B;B;B	0.18263	0.006;0.006;0.021;0.006;0.006	T	0.24728	-1.0152	9	0.02654	T	1	0.5106	8.3741	0.32432	0.0:0.7023:0.0:0.2977	.	397;397;554;419;487	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	E	554;487;554;397;397;419	ENSP00000396935:G554E;ENSP00000368061:G487E;ENSP00000374558:G554E;ENSP00000437501:G419E	ENSP00000315633:G397E	G	-	2	0	KIAA0226L	45817707	0.005000	0.15991	0.648000	0.29521	0.958000	0.62258	0.198000	0.17217	1.250000	0.43966	0.655000	0.94253	GGA	KIAA0226L	-	NULL	ENSG00000102445		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	135	0.00	0	C	NM_025113		46919706	46919706	-1	no_errors	ENST00000389908	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	0.188	T
KIAA0232	9778	genome.wustl.edu	37	4	6862902	6862902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:6862902G>T	ENST00000307659.5	+	7	1248	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.E265*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	265							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGGCACAATTGAAGAAAAGCC	0.448																																						dbGAP											0													73.0	71.0	72.0					4																	6862902		1900	4126	6026	-	-	-	SO:0001587	stop_gained	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.793G>T	4.37:g.6862902G>T	ENSP00000303928:p.Glu265*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Nonsense_Mutation	SNP	NULL	p.E265*	ENST00000307659.5	37	c.793	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.469954	0.97594	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.33	5.33	0.75918	.	0.098057	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.0231	19.0298	0.92952	0.0:0.0:1.0:0.0	.	.	.	.	X	265	.	ENSP00000303928:E265X	E	+	1	0	KIAA0232	6913803	1.000000	0.71417	0.212000	0.23672	0.174000	0.22865	5.188000	0.65093	2.522000	0.85027	0.561000	0.74099	GAA	KIAA0232	-	NULL	ENSG00000170871		0.448	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	95	0.00	0	G	NM_014743		6862902	6862902	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	nonsense	73	17.05	15	SNP	0.987	T
KIAA0232	9778	genome.wustl.edu	37	4	6863223	6863223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:6863223G>T	ENST00000307659.5	+	7	1569	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.E372*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	372							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACCTTTAAAAGAAATAGGGAG	0.458																																						dbGAP											0													70.0	73.0	72.0					4																	6863223		1854	4100	5954	-	-	-	SO:0001587	stop_gained	0			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1114G>T	4.37:g.6863223G>T	ENSP00000303928:p.Glu372*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D2	Nonsense_Mutation	SNP	NULL	p.E372*	ENST00000307659.5	37	c.1114	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.350488	0.98228	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.84	5.84	0.93424	.	0.212673	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.6186	20.1511	0.98086	0.0:0.0:1.0:0.0	.	.	.	.	X	372	.	ENSP00000303928:E372X	E	+	1	0	KIAA0232	6914124	1.000000	0.71417	0.339000	0.25562	0.068000	0.16541	6.389000	0.73199	2.778000	0.95560	0.655000	0.94253	GAA	KIAA0232	-	NULL	ENSG00000170871		0.458	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	72	0.00	0	G	NM_014743		6863223	6863223	+1	no_errors	ENST00000307659	ensembl	human	known	69_37n	nonsense	61	22.78	18	SNP	1.000	T
AREL1	9870	genome.wustl.edu	37	14	75142432	75142432	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:75142432C>T	ENST00000356357.4	-	8	1565	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	350					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACACCTTCTTCGGTTTCTTCA	0.512																																						dbGAP											0													271.0	271.0	271.0					14																	75142432		2013	4195	6208	-	-	-	SO:0001819	synonymous_variant	0			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1050G>A	14.37:g.75142432C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Silent	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.P350	ENST00000356357.4	37	c.1050	CCDS41971.1	14																																																																																			KIAA0317	-	NULL	ENSG00000119682		0.512	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	120	0.00	0	C	NM_014821		75142432	75142432	-1	no_errors	ENST00000356357	ensembl	human	known	69_37n	silent	77	27.10	29	SNP	0.052	T
KIAA0319L	79932	genome.wustl.edu	37	1	35919284	35919284	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:35919284T>G	ENST00000325722.3	-	12	2021	c.1787A>C	c.(1786-1788)aAt>aCt	p.N596T	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.N33T|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	596						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGAGGCTTATTGTTTTCTGG	0.493																																						dbGAP											0													70.0	63.0	65.0					1																	35919284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1787A>C	1.37:g.35919284T>G	ENSP00000318406:p.Asn596Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.N596T	ENST00000325722.3	37	c.1787	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997704	0.93227	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.69175	2.18;2.18;2.18;-0.38	5.76	5.76	0.90799	Fibronectin, type III (1);PKD domain (1);	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.997;0.998	D	0.88226	0.2900	10	0.62326	D	0.03	-23.8039	15.544	0.76081	0.0:0.0:0.0:1.0	.	596;596;33	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	T	596;33;596;596	ENSP00000318406:N596T;ENSP00000362363:N33T;ENSP00000395883:N596T;ENSP00000407576:N596T	ENSP00000318406:N596T	N	-	2	0	KIAA0319L	35691871	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.948000	0.87774	2.324000	0.78689	0.533000	0.62120	AAT	KIAA0319L	-	superfamily_PKD_dom	ENSG00000142687		0.493	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	99	0.00	0	T	NM_024874		35919284	35919284	-1	no_errors	ENST00000325722	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	1.000	G
KIAA0368	23392	genome.wustl.edu	37	9	114151987	114151987	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114151987A>C	ENST00000338205.5	-	30	3515	c.3296T>G	c.(3295-3297)tTt>tGt	p.F1099C	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.F1277C			Q5VYK3	ECM29_HUMAN	KIAA0368	1105					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AATTACATTAAAACCAAAAGC	0.403																																						dbGAP											0													58.0	59.0	59.0					9																	114151987		1891	4109	6000	-	-	-	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.3296T>G	9.37:g.114151987A>C	ENSP00000339889:p.Phe1099Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F1277C	ENST00000338205.5	37	c.3830		9	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427511	0.83667	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.68765	-0.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.83533	0.5275	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86525	0.1818	10	0.87932	D	0	.	15.6135	0.76748	1.0:0.0:0.0:0.0	.	574	B3KXF2	.	C	1099;1277;574	ENSP00000259335:F1277C	ENSP00000259335:F1277C	F	-	2	0	KIAA0368	113191808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.077000	0.62373	0.533000	0.62120	TTT	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.403	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	196	0.00	0	A	NM_014686		114151987	114151987	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	missense	135	13.46	21	SNP	1.000	C
KIAA0430	9665	genome.wustl.edu	37	16	15698114	15698114	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:15698114C>T	ENST00000396368.3	-	22	4530	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	KIAA0430_ENST00000344181.3_Missense_Mutation_p.E1044K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E1442K|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E1277K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E1439K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E1439K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1442	HTH OST-type 7. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E1442K(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGGTACTTTCGTAATGTCTC	0.493																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											132.0	131.0	131.0					16																	15698114		1935	4147	6082	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4324G>A	16.37:g.15698114C>T	ENSP00000379654:p.Glu1442Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.E1442K	ENST00000396368.3	37	c.4324	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594829	0.46318	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.33	5.33	0.75918	.	0.270761	0.38058	N	0.001831	T	0.31263	0.0791	L	0.29908	0.895	0.37288	D	0.908156	B;B;B;B	0.23937	0.077;0.078;0.078;0.094	B;B;B;B	0.19148	0.014;0.009;0.009;0.024	T	0.18967	-1.0320	10	0.22706	T	0.39	.	14.6086	0.68498	0.0:0.8545:0.1455:0.0	.	1441;1439;1438;1441	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	K	1442;1277;1382;1044;1439;1442;1222	ENSP00000379654:E1442K;ENSP00000439819:E1277K;ENSP00000341939:E1044K;ENSP00000449376:E1439K;ENSP00000450309:E1442K	ENSP00000315718:E1382K	E	-	1	0	KIAA0430	15605615	1.000000	0.71417	0.987000	0.45799	0.673000	0.39480	2.994000	0.49433	2.479000	0.83701	0.555000	0.69702	GAA	KIAA0430	-	NULL	ENSG00000166783		0.493	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	306	0.33	1	C	NM_014647		15698114	15698114	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	217	18.42	49	SNP	0.999	T
KIAA0430	9665	genome.wustl.edu	37	16	15698164	15698164	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:15698164G>T	ENST00000396368.3	-	22	4480	c.4274C>A	c.(4273-4275)tCt>tAt	p.S1425Y	KIAA0430_ENST00000344181.3_Missense_Mutation_p.S1027Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S1425Y|KIAA0430_ENST00000547936.1_5'UTR|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S1260Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S1422Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S1422Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1425	HTH OST-type 7. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCTTCCCAAGACATCAACAA	0.478																																						dbGAP											0													133.0	131.0	132.0					16																	15698164		1941	4161	6102	-	-	-	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4274C>A	16.37:g.15698164G>T	ENSP00000379654:p.Ser1425Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S1425Y	ENST00000396368.3	37	c.4274	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965031	0.92855	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.999;0.998	T	0.63594	-0.6602	10	0.72032	D	0.01	.	19.5999	0.95557	0.0:0.0:1.0:0.0	.	1424;1422;1421;1424	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	1425;1260;1365;1027;1422;1425;1205	ENSP00000379654:S1425Y;ENSP00000439819:S1260Y;ENSP00000341939:S1027Y;ENSP00000449376:S1422Y;ENSP00000450309:S1425Y	ENSP00000315718:S1365Y	S	-	2	0	KIAA0430	15605665	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.561000	0.98142	2.629000	0.89072	0.555000	0.69702	TCT	KIAA0430	-	NULL	ENSG00000166783		0.478	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	436	0.00	0	G	NM_014647		15698164	15698164	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	missense	305	15.28	55	SNP	1.000	T
KIAA0556	23247	genome.wustl.edu	37	16	27692752	27692752	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:27692752C>T	ENST00000261588.4	+	8	860	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	281						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCTGCAAAGCGGAAGGACAA	0.488																																						dbGAP											0													197.0	199.0	199.0					16																	27692752		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.841C>T	16.37:g.27692752C>T	ENSP00000261588:p.Arg281Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.R281W	ENST00000261588.4	37	c.841	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362878	0.61403	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.17528	2.27	5.4	3.38	0.38709	.	0.073801	0.48286	D	0.000190	T	0.38585	0.1046	M	0.73962	2.25	0.38498	D	0.948151	D;D	0.89917	1.0;1.0	D;P	0.70935	0.971;0.897	T	0.34204	-0.9838	10	0.87932	D	0	-4.8921	10.9591	0.47374	0.3395:0.6605:0.0:0.0	.	189;281	Q8N803;O60303	.;K0556_HUMAN	W	281;188	ENSP00000261588:R281W	ENSP00000261588:R281W	R	+	1	2	KIAA0556	27600253	1.000000	0.71417	0.987000	0.45799	0.677000	0.39632	1.294000	0.33365	0.604000	0.29930	0.563000	0.77884	CGG	KIAA0556	-	NULL	ENSG00000047578		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	149	0.00	0	C	NM_015202		27692752	27692752	+1	no_errors	ENST00000261588	ensembl	human	known	69_37n	missense	103	17.46	22	SNP	0.998	T
KIAA0586	9786	genome.wustl.edu	37	14	58899124	58899124	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:58899124C>A	ENST00000556134.1	+	5	588	c.314C>A	c.(313-315)tCt>tAt	p.S105Y	KIAA0586_ENST00000354386.6_Missense_Mutation_p.S132Y|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S35Y|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S120Y	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	105					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTTCATTTCTCAGTATACA	0.254																																						dbGAP											0													47.0	44.0	45.0					14																	58899124		1808	4051	5859	-	-	-	SO:0001583	missense	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.314C>A	14.37:g.58899124C>A	ENSP00000452351:p.Ser105Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	NULL	p.S105Y	ENST00000556134.1	37	c.314	CCDS58321.1	14	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365901	0.41902	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000554463;ENST00000555833;ENST00000261244	T;T;T;T;T;T	0.69561	-0.41;0.63;-0.14;0.63;0.63;0.63	5.21	4.32	0.51571	.	0.096756	0.46145	D	0.000305	T	0.76572	0.4006	M	0.64997	1.995	0.38979	D	0.958916	P;D;D;D	0.63046	0.879;0.992;0.992;0.992	P;P;P;P	0.62560	0.509;0.904;0.873;0.873	T	0.80850	-0.1198	10	0.87932	D	0	.	13.0815	0.59117	0.0:0.8388:0.1612:0.0	.	132;120;105;35	E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;K0586_HUMAN;.	Y	132;105;35;35;35;120	ENSP00000346359:S132Y;ENSP00000452351:S105Y;ENSP00000399427:S35Y;ENSP00000451831:S35Y;ENSP00000450855:S35Y;ENSP00000261244:S120Y	ENSP00000261244:S120Y	S	+	2	0	KIAA0586	57968877	1.000000	0.71417	1.000000	0.80357	0.403000	0.30841	2.368000	0.44222	1.424000	0.47217	-0.266000	0.10368	TCT	KIAA0586	-	NULL	ENSG00000100578		0.254	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1	141	0.00	0	C	NM_014749		58899124	58899124	+1	no_errors	ENST00000556134	ensembl	human	known	69_37n	missense	115	13.53	18	SNP	1.000	A
KIAA0753	9851	genome.wustl.edu	37	17	6528109	6528109	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:6528109C>T	ENST00000361413.3	-	4	1149	c.791G>A	c.(790-792)cGc>cAc	p.R264H	KIAA0753_ENST00000542606.1_Intron|KIAA0753_ENST00000572370.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	264						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCGGGCAGAGCGAGCAGCTTG	0.468																																						dbGAP											0													55.0	55.0	55.0					17																	6528109		2017	4177	6194	-	-	-	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.791G>A	17.37:g.6528109C>T	ENSP00000355250:p.Arg264His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.R264H	ENST00000361413.3	37	c.791	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939812	0.92526	.	.	ENSG00000198920	ENST00000361413	T	0.10099	2.91	5.2	5.2	0.72013	.	0.113733	0.64402	D	0.000009	T	0.33206	0.0855	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.64237	0.923	T	0.05178	-1.0901	10	0.87932	D	0	-5.7045	16.6029	0.84820	0.0:1.0:0.0:0.0	.	264	Q2KHM9	K0753_HUMAN	H	264	ENSP00000355250:R264H	ENSP00000355250:R264H	R	-	2	0	KIAA0753	6468833	1.000000	0.71417	0.130000	0.21974	0.994000	0.84299	6.220000	0.72237	2.608000	0.88229	0.650000	0.86243	CGC	KIAA0753	-	NULL	ENSG00000198920		0.468	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	204	0.00	0	C	NM_014804		6528109	6528109	-1	no_errors	ENST00000361413	ensembl	human	known	69_37n	missense	52	43.48	40	SNP	0.929	T
KIAA0754	643314	genome.wustl.edu	37	1	39878273	39878273	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:39878273C>A	ENST00000530275.1	+	1	2123	c.1928C>A	c.(1927-1929)aCt>aAt	p.T643N	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	643										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGTGGAAACTGTGAATGAT	0.458																																						dbGAP											0													95.0	93.0	93.0					1																	39878273		1931	4134	6065	-	-	-	SO:0001583	missense	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1928C>A	1.37:g.39878273C>A	ENSP00000431179:p.Thr643Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.T643N	ENST00000530275.1	37	c.1928		1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648416	0.47258	.	.	ENSG00000255103	ENST00000530275	D	0.84298	-1.83	5.48	4.56	0.56223	.	.	.	.	.	D	0.85665	0.5749	N	0.24115	0.695	0.20074	N	0.999938	D	0.76494	0.999	D	0.72075	0.976	T	0.75531	-0.3285	9	0.87932	D	0	.	9.1965	0.37231	0.0:0.9038:0.0:0.0962	.	643	O94854	K0754_HUMAN	N	643	ENSP00000431179:T643N	ENSP00000431179:T643N	T	+	2	0	RP4-562N20.1	39650860	0.001000	0.12720	0.969000	0.41365	0.391000	0.30476	1.130000	0.31393	2.586000	0.87340	0.655000	0.94253	ACT	KIAA0754	-	NULL	ENSG00000255103		0.458	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	153	0.00	0	C	NM_015038		39878273	39878273	+1	no_errors	ENST00000530275	ensembl	human	known	69_37n	missense	111	18.98	26	SNP	0.844	A
KIAA0825	285600	genome.wustl.edu	37	5	93820579	93820579	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:93820579C>T	ENST00000513200.3	-	5	1099	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	KIAA0825_ENST00000427991.2_Missense_Mutation_p.E343K|KIAA0825_ENST00000312498.7_Missense_Mutation_p.E343K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	343										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						GATAAGAATTCGACTTTGTCT	0.343																																						dbGAP											0													86.0	74.0	78.0					5																	93820579		692	1589	2281	-	-	-	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1027G>A	5.37:g.93820579C>T	ENSP00000424618:p.Glu343Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.E343K	ENST00000513200.3	37	c.1027		5	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.641467	0.00799	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.36699	1.29;1.29;1.24	5.07	-2.58	0.06228	.	.	.	.	.	T	0.07234	0.0183	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34403	-0.9830	9	0.02654	T	1	.	6.1473	0.20293	0.0:0.1492:0.4005:0.4503	.	343	Q8IV33	K0825_HUMAN	K	343	ENSP00000424618:E343K;ENSP00000400288:E343K;ENSP00000312205:E343K	ENSP00000312205:E343K	E	-	1	0	KIAA0825	93846335	0.028000	0.19301	0.000000	0.03702	0.134000	0.20937	0.559000	0.23485	-0.605000	0.05753	-0.373000	0.07131	GAA	KIAA0825	-	NULL	ENSG00000185261		0.343	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	139	0.00	0	C	NM_173665		93820579	93820579	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	missense	80	14.89	14	SNP	0.030	T
CEP162	22832	genome.wustl.edu	37	6	84913771	84913771	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:84913771C>T	ENST00000403245.3	-	7	729	c.615G>A	c.(613-615)ccG>ccA	p.P205P	KIAA1009_ENST00000257766.4_Silent_p.P129P	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TAGTAGTCAACGGTGCACCAA	0.308																																						dbGAP											0													109.0	111.0	110.0					6																	84913771		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000403245.3:c.615G>A	6.37:g.84913771C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P205	ENST00000403245.3	37	c.615	CCDS34494.2	6																																																																																			KIAA1009	-	NULL	ENSG00000135315		0.308	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	325	0.00	0	C			84913771	84913771	-1	no_errors	ENST00000403245	ensembl	human	known	69_37n	silent	300	10.18	34	SNP	0.001	T
KIAA1033	23325	genome.wustl.edu	37	12	105504929	105504929	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:105504929A>C	ENST00000332180.5	+	2	175	c.88A>C	c.(88-90)Aat>Cat	p.N30H		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CCAACTTAAGAATTATGGGAA	0.353																																						dbGAP											0													68.0	64.0	65.0					12																	105504929		1811	4065	5876	-	-	-	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.88A>C	12.37:g.105504929A>C	ENSP00000328062:p.Asn30His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.N30H	ENST00000332180.5	37	c.88	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230413	0.79688	.	.	ENSG00000136051	ENST00000332180	T	0.44083	0.93	5.89	5.89	0.94794	.	0.042334	0.85682	D	0.000000	T	0.46328	0.1387	L	0.36672	1.1	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.51135	0.66;0.66	T	0.41360	-0.9513	10	0.52906	T	0.07	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	30;30	B7ZKT9;Q2M389	.;WASH7_HUMAN	H	30	ENSP00000328062:N30H	ENSP00000328062:N30H	N	+	1	0	KIAA1033	104029059	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.151000	0.94674	2.246000	0.74042	0.533000	0.62120	AAT	KIAA1033	-	NULL	ENSG00000136051		0.353	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	149	0.00	0	A	NM_015275		105504929	105504929	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	missense	60	41.18	42	SNP	1.000	C
KIAA1033	23325	genome.wustl.edu	37	12	105553811	105553811	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:105553811G>A	ENST00000332180.5	+	29	3032	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q		NM_015275.1	NP_056090.1			KIAA1033									p.R982Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GATCACACACGAAATTCTGCC	0.363																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											91.0	92.0	92.0					12																	105553811		1806	4074	5880	-	-	-	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2945G>A	12.37:g.105553811G>A	ENSP00000328062:p.Arg982Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R982Q	ENST00000332180.5	37	c.2945	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409055	0.62399	.	.	ENSG00000136051	ENST00000332180;ENST00000551224	T;T	0.75938	-0.98;-0.98	4.98	4.98	0.66077	.	0.050555	0.85682	D	0.000000	T	0.53045	0.1772	N	0.02391	-0.57	0.58432	D	0.999995	B;B	0.15930	0.015;0.015	B;B	0.11329	0.006;0.006	T	0.50162	-0.8860	10	0.32370	T	0.25	.	18.2844	0.90110	0.0:0.0:1.0:0.0	.	983;982	B7ZKT9;Q2M389	.;WASH7_HUMAN	Q	982;60	ENSP00000328062:R982Q;ENSP00000447015:R60Q	ENSP00000328062:R982Q	R	+	2	0	KIAA1033	104077941	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.433000	0.73404	2.314000	0.78098	0.484000	0.47621	CGA	KIAA1033	-	NULL	ENSG00000136051		0.363	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	196	0.00	0	G	NM_015275		105553811	105553811	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	missense	100	25.74	35	SNP	1.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123141534	123141534	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:123141534G>T	ENST00000264501.4	+	22	2895	c.2522G>T	c.(2521-2523)aGa>aTa	p.R841I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R841I|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R841I			Q2LD37	K1109_HUMAN	KIAA1109	841					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTTGGAAAGACTATGTTTT	0.398																																						dbGAP											0													86.0	80.0	82.0					4																	123141534		1849	4096	5945	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2522G>T	4.37:g.123141534G>T	ENSP00000264501:p.Arg841Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.R841I	ENST00000264501.4	37	c.2522	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670865|4.670865	0.88348|0.88348	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251	.|T;T;T;T	.|0.53423	.|0.62;0.62;0.62;0.62	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|5.411110	.|0.01256	.|U	.|0.009002	T|T	0.74550|0.74550	0.3731|0.3731	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.995	.|D;P	.|0.74023	.|0.982;0.854	T|T	0.56908|0.56908	-0.7901|-0.7901	5|10	.|0.52906	.|T	.|0.07	.|.	19.4924|19.4924	0.95056|0.95056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|841;841	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	N|I	673|841;841;841;49	.|ENSP00000264501:R841I;ENSP00000373390:R841I;ENSP00000389925:R841I;ENSP00000413018:R49I	.|ENSP00000264501:R841I	K|R	+|+	3|2	2|0	KIAA1109|KIAA1109	123360984|123360984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.728000|7.728000	0.84847|0.84847	2.619000|2.619000	0.88677|0.88677	0.460000|0.460000	0.39030|0.39030	AAG|AGA	KIAA1109	-	NULL	ENSG00000138688		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	323	0.31	1	G	NM_020797		123141534	123141534	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	161	16.15	31	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123170670	123170670	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:123170670C>A	ENST00000264501.4	+	36	5916	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1848H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1848H			Q2LD37	K1109_HUMAN	KIAA1109	1848					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTGCTATTCCTTTTGAGAAG	0.333																																						dbGAP											0													139.0	133.0	134.0					4																	123170670		1836	4079	5915	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5543C>A	4.37:g.123170670C>A	ENSP00000264501:p.Pro1848His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.P1848H	ENST00000264501.4	37	c.5543	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.663316|4.663316	0.88251|0.88251	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.77358	.|-0.33;-0.33;-1.09	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.000000	.|0.44688	.|U	.|0.000427	D|D	0.82586|0.82586	0.5069|0.5069	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	D|D	0.85059|0.85059	0.0933|0.0933	5|10	.|0.87932	.|D	.|0	.|.	18.9951|18.9951	0.92809|0.92809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1847;1848	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	I|H	421|1848	.|ENSP00000264501:P1848H;ENSP00000373390:P1848H;ENSP00000389925:P1848H	.|ENSP00000264501:P1848H	L|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123390120|123390120	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	7.493000|7.493000	0.81493|0.81493	2.557000|2.557000	0.86248|0.86248	0.455000|0.455000	0.32223|0.32223	CTT|CCT	KIAA1109	-	NULL	ENSG00000138688		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	236	0.00	0	C	NM_020797		123170670	123170670	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	195	13.72	31	SNP	1.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123229163	123229163	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:123229163G>A	ENST00000264501.4	+	58	10274	c.9901G>A	c.(9901-9903)Gct>Act	p.A3301T	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A3301T|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A3301T			Q2LD37	K1109_HUMAN	KIAA1109	3301					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAACGAATGGCTTTACATAA	0.398																																						dbGAP											0													187.0	184.0	185.0					4																	123229163		1876	4120	5996	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9901G>A	4.37:g.123229163G>A	ENSP00000264501:p.Ala3301Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.A3301T	ENST00000264501.4	37	c.9901	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.971208|3.971208	0.74246|0.74246	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.28454|.	1.61;1.61;1.61|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54095|0.54095	0.1837|0.1837	N|N	0.16478|0.16478	0.41|0.41	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.79784|.	0.993;0.989|.	T|T	0.45760|0.45760	-0.9239|-0.9239	10|5	0.48119|.	T|.	0.1|.	.|.	20.3206|20.3206	0.98668|0.98668	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3301;3301|.	Q2LD37-6;Q2LD37|.	.;K1109_HUMAN|.	T|D	3301|1258	ENSP00000264501:A3301T;ENSP00000373390:A3301T;ENSP00000389925:A3301T|.	ENSP00000264501:A3301T|.	A|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123448613|123448613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.745000|9.745000	0.98856|0.98856	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GCT|GGC	KIAA1109	-	NULL	ENSG00000138688		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	274	0.00	0	G	NM_020797		123229163	123229163	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	121	14.08	20	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118220836	118220836	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118220836G>T	ENST00000402510.2	-	11	4356	c.4357C>A	c.(4357-4359)Ctt>Att	p.L1453I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1453										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCACTCTCAAGATCTTCTTTC	0.458																																						dbGAP											0													83.0	77.0	79.0					X																	118220836		1854	4091	5945	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4357C>A	X.37:g.118220836G>T	ENSP00000384670:p.Leu1453Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.L1453I	ENST00000402510.2	37	c.4357	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.273|8.273	0.813834|0.813834	0.16537|0.16537	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.11169|.	2.8|.	5.13|5.13	1.37|1.37	0.22104|0.22104	.|.	.|.	.|.	.|.	.|.	T|T	0.40886|0.40886	0.1135|0.1135	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.53146|.	0.719|.	T|T	0.33777|0.33777	-0.9855|-0.9855	9|5	0.38643|.	T|.	0.18|.	.|.	3.5382|3.5382	0.07802|0.07802	0.3222:0.1905:0.4874:0.0|0.3222:0.1905:0.4874:0.0	.|.	1453|.	Q9ULL0|.	K1210_HUMAN|.	I|Y	1453|859	ENSP00000384670:L1453I|.	ENSP00000384670:L1453I|.	L|S	-|-	1|2	0|0	RP13-347D8.6|KIAA1210	118104864|118104864	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	0.619000|0.619000	0.24388|0.24388	0.236000|0.236000	0.21180|0.21180	0.513000|0.513000	0.50165|0.50165	CTT|TCT	KIAA1210	-	NULL	ENSG00000250423		0.458	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	292	0.00	0	G	NM_020721		118220836	118220836	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	166	13.54	26	SNP	0.000	T
KIAA1210	57481	genome.wustl.edu	37	X	118222906	118222906	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118222906G>T	ENST00000402510.2	-	11	2286	c.2287C>A	c.(2287-2289)Cct>Act	p.P763T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	763										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTCTGGGAGGCAGAGTCTTG	0.453																																						dbGAP											0													40.0	39.0	39.0					X																	118222906		1899	4114	6013	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2287C>A	X.37:g.118222906G>T	ENSP00000384670:p.Pro763Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.P763T	ENST00000402510.2	37	c.2287	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.441|9.441	1.088165|1.088165	0.20390|0.20390	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10860	.|2.83	4.46|4.46	0.8|0.8	0.18672|0.18672	.|.	.|.	.|.	.|.	.|.	T|T	0.12518|0.12518	0.0304|0.0304	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.62491	.|0.903	T|T	0.26849|0.26849	-1.0091|-1.0091	5|9	.|0.34782	.|T	.|0.22	.|.	6.3484|6.3484	0.21363|0.21363	0.4423:0.0:0.5577:0.0|0.4423:0.0:0.5577:0.0	.|.	.|763	.|Q9ULL0	.|K1210_HUMAN	D|T	169|763	.|ENSP00000384670:P763T	.|ENSP00000384670:P763T	A|P	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118106934|118106934	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.124000|-0.124000	0.10595|0.10595	0.010000|0.010000	0.14839|0.14839	-0.199000|-0.199000	0.12753|0.12753	GCC|CCT	KIAA1210	-	NULL	ENSG00000250423		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	66	0.00	0	G	NM_020721		118222906	118222906	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	0.000	T
KIAA1210	57481	genome.wustl.edu	37	X	118239003	118239003	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118239003C>A	ENST00000402510.2	-	7	1019	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	340										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTGTGGATTCTTAGGTGACT	0.453																																						dbGAP											0													153.0	147.0	149.0					X																	118239003		1906	4124	6030	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1020G>T	X.37:g.118239003C>A	ENSP00000384670:p.Lys340Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.K340N	ENST00000402510.2	37	c.1020	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234917	0.39498	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10860	2.83	4.55	-4.59	0.03400	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.24823	0.112	B	0.22880	0.042	T	0.41520	-0.9504	9	0.23302	T	0.38	.	1.47	0.02414	0.2483:0.1771:0.3831:0.1915	.	340	Q9ULL0	K1210_HUMAN	N	340;176	ENSP00000384670:K340N	ENSP00000396164:K176N	K	-	3	2	RP13-347D8.5;RP13-347D8.6	118123031	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.649000	0.01993	-1.088000	0.03077	0.506000	0.49869	AAG	KIAA1210	-	NULL	ENSG00000250423		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	195	0.51	1	C	NM_020721		118239003	118239003	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	179	13.11	27	SNP	0.000	A
KIAA1211	57482	genome.wustl.edu	37	4	57190350	57190350	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:57190350G>T	ENST00000504228.1	+	8	3564	c.3459G>T	c.(3457-3459)gaG>gaT	p.E1153D	KIAA1211_ENST00000264229.6_Missense_Mutation_p.E1153D|KIAA1211_ENST00000541073.1_Missense_Mutation_p.E1146D			Q6ZU35	K1211_HUMAN	KIAA1211	1153										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGCCAGAAGAGAAGAGGCCCG	0.567																																						dbGAP											0													59.0	65.0	63.0					4																	57190350		2118	4246	6364	-	-	-	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3459G>T	4.37:g.57190350G>T	ENSP00000423366:p.Glu1153Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.E1153D	ENST00000504228.1	37	c.3459	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809740	0.50421	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.77489	-1.1;-1.1;-1.1	5.33	2.68	0.31781	.	.	.	.	.	T	0.72236	0.3435	M	0.62723	1.935	0.35613	D	0.80881	P;P	0.41041	0.736;0.736	B;B	0.38500	0.275;0.275	T	0.74878	-0.3514	9	0.59425	D	0.04	-29.3199	8.7377	0.34539	0.136:0.1248:0.7392:0.0	.	1146;1153	F5H1N7;Q6ZU35	.;K1211_HUMAN	D	1153;1153;1146	ENSP00000264229:E1153D;ENSP00000423366:E1153D;ENSP00000444006:E1146D	ENSP00000264229:E1153D	E	+	3	2	KIAA1211	56885107	1.000000	0.71417	0.997000	0.53966	0.544000	0.35116	1.560000	0.36331	0.386000	0.24997	-0.258000	0.10820	GAG	KIAA1211	-	NULL	ENSG00000109265		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	152	0.00	0	G	NM_020722		57190350	57190350	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	missense	70	19.54	17	SNP	1.000	T
KIAA1217	56243	genome.wustl.edu	37	10	24832225	24832225	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:24832225G>A	ENST00000376454.3	+	19	4056	c.4026G>A	c.(4024-4026)acG>acA	p.T1342T	KIAA1217_ENST00000376451.2_Silent_p.T1025T|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1342					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGTTATCACGACAGATTTTG	0.423																																						dbGAP											0													157.0	139.0	145.0					10																	24832225		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4026G>A	10.37:g.24832225G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.T1342	ENST00000376454.3	37	c.4026	CCDS31165.1	10																																																																																			KIAA1217	-	NULL	ENSG00000120549		0.423	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	264	0.75	2	G	NM_019590		24832225	24832225	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	silent	249	10.39	29	SNP	0.000	A
KIAA1217	56243	genome.wustl.edu	37	10	24833069	24833069	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:24833069G>A	ENST00000376454.3	+	19	4900	c.4870G>A	c.(4870-4872)Gaa>Aaa	p.E1624K	KIAA1217_ENST00000376451.2_Missense_Mutation_p.E1307K|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1624					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGCGCTTCGAAATCGCTAG	0.488																																						dbGAP											0													99.0	99.0	99.0					10																	24833069		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4870G>A	10.37:g.24833069G>A	ENSP00000365637:p.Glu1624Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.E1624K	ENST00000376454.3	37	c.4870	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625033	0.66901	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.37411	1.63;1.2	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.58875	-0.7559	10	0.44086	T	0.13	.	19.0404	0.92997	0.0:0.0:1.0:0.0	.	1307;1307;1624	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	K	1307;1624;1307;1307	ENSP00000365637:E1624K;ENSP00000365634:E1307K	ENSP00000365634:E1307K	E	+	1	0	KIAA1217	24873075	1.000000	0.71417	0.690000	0.30148	0.172000	0.22775	9.406000	0.97321	2.495000	0.84180	0.561000	0.74099	GAA	KIAA1217	-	NULL	ENSG00000120549		0.488	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	437	0.00	0	G	NM_019590		24833069	24833069	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	missense	417	12.18	58	SNP	1.000	A
NWD2	57495	genome.wustl.edu	37	4	37440733	37440733	+	Silent	SNP	C	C	A	rs532827655		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:37440733C>A	ENST00000309447.5	+	6	1865	c.1017C>A	c.(1015-1017)atC>atA	p.I339I		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		339										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						ATCATTACATCGAAGGACTTG	0.343																																						dbGAP											0													84.0	74.0	77.0					4																	37440733		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000309447.5:c.1017C>A	4.37:g.37440733C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.I339	ENST00000309447.5	37	c.1017	CCDS47040.1	4																																																																																			KIAA1239	-	NULL	ENSG00000174145		0.343	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	117	0.00	0	C			37440733	37440733	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	silent	100	12.28	14	SNP	1.000	A
KIAA1244	57221	genome.wustl.edu	37	6	138619874	138619874	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:138619874C>T	ENST00000251691.4	+	22	3946	c.3780C>T	c.(3778-3780)ttC>ttT	p.F1260F		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCGACCTTTCGAGCGCATTA	0.488																																						dbGAP											0													119.0	99.0	105.0					6																	138619874		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3780C>T	6.37:g.138619874C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.F1260	ENST00000251691.4	37	c.3780	CCDS5189.2	6																																																																																			KIAA1244	-	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	ENSG00000112379		0.488	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	125	0.00	0	C	NM_020340		138619874	138619874	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	silent	72	28.00	28	SNP	0.502	T
KIAA1257	57501	genome.wustl.edu	37	3	128695857	128695857	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:128695857C>A	ENST00000265068.5	-	6	1028	c.861G>T	c.(859-861)gaG>gaT	p.E287D	KIAA1257_ENST00000515659.1_Missense_Mutation_p.E175D|KIAA1257_ENST00000511438.1_Missense_Mutation_p.E287D|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	287										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGAGGGACTTCTCATATTCCT	0.438																																						dbGAP											0													126.0	118.0	121.0					3																	128695857		1889	4107	5996	-	-	-	SO:0001583	missense	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.861G>T	3.37:g.128695857C>A	ENSP00000265068:p.Glu287Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.E287D	ENST00000265068.5	37	c.861	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953283	0.53293	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.63	-3.02	0.05446	.	0.334286	0.21542	N	0.072865	T	0.13970	0.0338	L	0.27053	0.805	0.09310	N	1	P;B	0.40107	0.703;0.356	B;B	0.35413	0.202;0.202	T	0.15037	-1.0451	9	0.39692	T	0.17	-16.3183	4.8508	0.13537	0.1849:0.5015:0.0:0.3136	.	287;287	Q9ULG3;D6RH05	K1257_HUMAN;.	D	287;287;175	.	ENSP00000265068:E287D	E	-	3	2	KIAA1257	130178547	0.000000	0.05858	0.003000	0.11579	0.145000	0.21501	-4.359000	0.00247	-0.618000	0.05656	-0.469000	0.05056	GAG	KIAA1257	-	NULL	ENSG00000114656		0.438	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	519	0.00	0	C	NM_020741		128695857	128695857	-1	no_errors	ENST00000265068	ensembl	human	known	69_37n	missense	490	26.65	178	SNP	0.004	A
KIAA1257	57501	genome.wustl.edu	37	3	128697001	128697001	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:128697001C>A	ENST00000265068.5	-	5	862	c.695G>T	c.(694-696)aGa>aTa	p.R232I	KIAA1257_ENST00000515659.1_Missense_Mutation_p.R120I|KIAA1257_ENST00000511438.1_Missense_Mutation_p.R232I|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	232										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AGATAATTTTCTCTGATTTAA	0.363																																						dbGAP											0													120.0	114.0	116.0					3																	128697001		1851	4096	5947	-	-	-	SO:0001583	missense	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.695G>T	3.37:g.128697001C>A	ENSP00000265068:p.Arg232Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.R232I	ENST00000265068.5	37	c.695	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070917	0.36566	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	3.78	0.239	0.15484	.	0.268621	0.26314	N	0.025085	T	0.35770	0.0943	N	0.24115	0.695	0.20764	N	0.99986	D;D	0.71674	0.998;0.998	D;D	0.66351	0.943;0.943	T	0.11324	-1.0592	9	0.72032	D	0.01	-14.4138	5.5809	0.17248	0.0:0.4863:0.0:0.5137	.	232;232	Q9ULG3;D6RH05	K1257_HUMAN;.	I	232;232;120	.	ENSP00000265068:R232I	R	-	2	0	KIAA1257	130179691	0.163000	0.22920	0.125000	0.21846	0.521000	0.34408	0.602000	0.24134	0.174000	0.19809	0.467000	0.42956	AGA	KIAA1257	-	NULL	ENSG00000114656		0.363	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	434	0.00	0	C	NM_020741		128697001	128697001	-1	no_errors	ENST00000265068	ensembl	human	known	69_37n	missense	484	10.87	59	SNP	0.034	A
KIAA1279	26128	genome.wustl.edu	37	10	70775995	70775995	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70775995G>T	ENST00000361983.4	+	7	1791	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	563					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CAGATCCCAAGAAAGAGCTGG	0.428																																						dbGAP											0													92.0	89.0	90.0					10																	70775995		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1689G>T	10.37:g.70775995G>T	ENSP00000354848:p.Lys563Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.K563N	ENST00000361983.4	37	c.1689	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	8.527	0.870091	0.17322	.	.	ENSG00000198954	ENST00000361983	T	0.46819	0.86	5.72	4.82	0.62117	.	0.439865	0.28488	N	0.015167	T	0.32615	0.0835	N	0.24115	0.695	0.44995	D	0.998011	B	0.13594	0.008	B	0.14023	0.01	T	0.08806	-1.0704	10	0.24483	T	0.36	-10.2027	11.4404	0.50094	0.1549:0.0:0.8451:0.0	.	563	Q96EK5	KBP_HUMAN	N	563	ENSP00000354848:K563N	ENSP00000354848:K563N	K	+	3	2	KIAA1279	70446001	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	2.350000	0.44063	1.414000	0.47017	0.655000	0.94253	AAG	KIAA1279	-	pfam_KBP	ENSG00000198954		0.428	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	243	0.41	1	G	NM_015634		70775995	70775995	+1	no_errors	ENST00000361983	ensembl	human	known	69_37n	missense	222	28.06	87	SNP	1.000	T
KIAA1324L	222223	genome.wustl.edu	37	7	86544058	86544058	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:86544058C>A	ENST00000450689.2	-	13	1897	c.1712G>T	c.(1711-1713)aGa>aTa	p.R571I	KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.R571I|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.R331I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.R404I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	571						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTGATTAGTTCTCTGGAATGC	0.373																																						dbGAP											0													163.0	143.0	150.0					7																	86544058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1712G>T	7.37:g.86544058C>A	ENSP00000413445:p.Arg571Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.R571I	ENST00000450689.2	37	c.1712	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.805164|4.805164	0.90623|0.90623	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.26223	.|2.13;1.92;1.75;1.89	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55625|0.55625	0.1932|0.1932	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	T|T	0.55055|0.55055	-0.8200|-0.8200	5|10	.|0.62326	.|D	.|0.03	.|.	19.3629|19.3629	0.94448|0.94448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|571;331;404	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	D|I	531|571;331;571;404	.|ENSP00000413445:R571I;ENSP00000297222:R331I;ENSP00000397377:R571I;ENSP00000402390:R404I	.|ENSP00000297222:R331I	E|R	-|-	3|2	2|0	KIAA1324L|KIAA1324L	86381994|86381994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	5.541000|5.541000	0.67212|0.67212	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAG|AGA	KIAA1324L	-	superfamily_Growth_fac_rcpt	ENSG00000164659		0.373	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	553	0.00	0	C	NM_152748		86544058	86544058	-1	no_errors	ENST00000450689	ensembl	human	known	69_37n	missense	270	21.28	73	SNP	1.000	A
KIAA1377	57562	genome.wustl.edu	37	11	101832651	101832651	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101832651C>T	ENST00000263468.8	+	6	1155	c.885C>T	c.(883-885)tgC>tgT	p.C295C	KIAA1377_ENST00000537689.1_Silent_p.C96C	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	295										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCTCAGCTGCTTTGATGAAG	0.343																																						dbGAP											0													67.0	65.0	66.0					11																	101832651		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.885C>T	11.37:g.101832651C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Silent	SNP	NULL	p.C295	ENST00000263468.8	37	c.885	CCDS31658.1	11																																																																																			KIAA1377	-	NULL	ENSG00000110318		0.343	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	114	0.00	0	C	NM_020802		101832651	101832651	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	silent	106	13.71	17	SNP	0.528	T
KIAA1377	57562	genome.wustl.edu	37	11	101833080	101833080	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101833080G>T	ENST00000263468.8	+	6	1584	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E239D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	438										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGACCAAGAGAAATATTCTG	0.378																																						dbGAP											0													54.0	59.0	57.0					11																	101833080		2200	4297	6497	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1314G>T	11.37:g.101833080G>T	ENSP00000263468:p.Glu438Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Missense_Mutation	SNP	NULL	p.E438D	ENST00000263468.8	37	c.1314	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	7.876	0.729219	0.15507	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08896	3.04;3.04	5.05	2.15	0.27550	.	0.604283	0.16408	N	0.215705	T	0.08670	0.0215	L	0.59436	1.845	0.09310	N	1	B	0.32753	0.383	B	0.32724	0.151	T	0.22417	-1.0217	10	0.42905	T	0.14	-0.4885	5.3188	0.15870	0.2443:0.0:0.6029:0.1528	.	438	Q9P2H0	K1377_HUMAN	D	438;239	ENSP00000263468:E438D;ENSP00000443184:E239D	ENSP00000263468:E438D	E	+	3	2	KIAA1377	101338290	0.011000	0.17503	0.325000	0.25375	0.909000	0.53808	0.058000	0.14301	0.636000	0.30508	-0.137000	0.14449	GAG	KIAA1377	-	NULL	ENSG00000110318		0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	120	0.00	0	G	NM_020802		101833080	101833080	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	0.063	T
KIAA1377	57562	genome.wustl.edu	37	11	101833321	101833321	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101833321T>C	ENST00000263468.8	+	6	1825	c.1555T>C	c.(1555-1557)Tca>Cca	p.S519P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S320P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	519										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCCTTTATTTTCAGACAGTTT	0.308																																						dbGAP											0													37.0	39.0	38.0					11																	101833321		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1555T>C	11.37:g.101833321T>C	ENSP00000263468:p.Ser519Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Missense_Mutation	SNP	NULL	p.S519P	ENST00000263468.8	37	c.1555	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	T	15.40	2.821715	0.50633	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08282	3.11;3.11	5.15	2.43	0.29744	.	0.486738	0.18898	N	0.128114	T	0.06142	0.0159	L	0.43923	1.385	0.27160	N	0.961184	B	0.14438	0.01	B	0.11329	0.006	T	0.29941	-0.9995	10	0.31617	T	0.26	-2.6994	1.5575	0.02587	0.2821:0.2504:0.0:0.4675	.	519	Q9P2H0	K1377_HUMAN	P	519;320	ENSP00000263468:S519P;ENSP00000443184:S320P	ENSP00000263468:S519P	S	+	1	0	KIAA1377	101338531	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	0.991000	0.29654	0.855000	0.35359	0.533000	0.62120	TCA	KIAA1377	-	NULL	ENSG00000110318		0.308	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	90	0.00	0	T	NM_020802		101833321	101833321	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	0.997	C
KIAA1377	57562	genome.wustl.edu	37	11	101833844	101833844	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101833844C>A	ENST00000263468.8	+	6	2348	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S494Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	693										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGGAGGATTCTATCTCTGAA	0.393																																						dbGAP											0													103.0	103.0	103.0					11																	101833844		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2078C>A	11.37:g.101833844C>A	ENSP00000263468:p.Ser693Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Missense_Mutation	SNP	NULL	p.S693Y	ENST00000263468.8	37	c.2078	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	C	2.750	-0.260338	0.05791	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08282	3.11;3.11	5.06	-0.757	0.11054	.	1.157050	0.06236	N	0.689513	T	0.10551	0.0258	M	0.65975	2.015	0.09310	N	1	B	0.21071	0.051	B	0.21917	0.037	T	0.40850	-0.9541	10	0.54805	T	0.06	-0.033	3.9511	0.09369	0.3718:0.3151:0.2418:0.0712	.	693	Q9P2H0	K1377_HUMAN	Y	693;494	ENSP00000263468:S693Y;ENSP00000443184:S494Y	ENSP00000263468:S693Y	S	+	2	0	KIAA1377	101339054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.567000	0.23608	-0.325000	0.08577	-1.028000	0.02416	TCT	KIAA1377	-	NULL	ENSG00000110318		0.393	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	104	0.00	0	C	NM_020802		101833844	101833844	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	85	18.27	19	SNP	0.000	A
KIAA1377	57562	genome.wustl.edu	37	11	101834361	101834361	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101834361T>G	ENST00000263468.8	+	6	2865	c.2595T>G	c.(2593-2595)tgT>tgG	p.C865W	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C666W	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	865										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAAATGCTTGTTCTGACCTAG	0.373																																						dbGAP											0													100.0	88.0	92.0					11																	101834361		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2595T>G	11.37:g.101834361T>G	ENSP00000263468:p.Cys865Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Missense_Mutation	SNP	NULL	p.C865W	ENST00000263468.8	37	c.2595	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	T	9.950	1.219946	0.22373	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.09163	3.01;3.01	5.53	1.84	0.25277	.	0.572470	0.17834	N	0.160411	T	0.12135	0.0295	M	0.67953	2.075	0.22435	N	0.999101	D	0.53885	0.963	B	0.43950	0.437	T	0.16867	-1.0388	10	0.40728	T	0.16	0.7704	4.5258	0.11981	0.1314:0.211:0.0:0.6576	.	865	Q9P2H0	K1377_HUMAN	W	865;666	ENSP00000263468:C865W;ENSP00000443184:C666W	ENSP00000263468:C865W	C	+	3	2	KIAA1377	101339571	0.020000	0.18652	0.050000	0.19076	0.247000	0.25773	1.270000	0.33086	0.113000	0.18004	0.533000	0.62120	TGT	KIAA1377	-	NULL	ENSG00000110318		0.373	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	267	0.00	0	T	NM_020802		101834361	101834361	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	152	23.23	46	SNP	0.059	G
KIAA1377	57562	genome.wustl.edu	37	11	101863530	101863530	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101863530A>T	ENST00000263468.8	+	10	3536	c.3266A>T	c.(3265-3267)aAa>aTa	p.K1089I	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K890I	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1089										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TCCATTTGCAAAAACCCATCC	0.244																																						dbGAP											0													27.0	29.0	28.0					11																	101863530		2190	4262	6452	-	-	-	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3266A>T	11.37:g.101863530A>T	ENSP00000263468:p.Lys1089Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0U6	Missense_Mutation	SNP	NULL	p.K1089I	ENST00000263468.8	37	c.3266	CCDS31658.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.69|16.69	3.193254|3.193254	0.58017|0.58017	.|.	.|.	ENSG00000110318|ENSG00000110318	ENST00000263468;ENST00000537689|ENST00000532077	T;T|.	0.11604|.	2.98;2.76|.	5.2|5.2	4.07|4.07	0.47477|0.47477	.|.	0.319059|.	0.31188|.	N|.	0.008091|.	T|T	0.59128|0.59128	0.2171|0.2171	M|M	0.67953|0.67953	2.075|2.075	0.32704|0.32704	N|N	0.51247|0.51247	D|.	0.69078|.	0.997|.	D|.	0.63877|.	0.919|.	T|T	0.66838|0.66838	-0.5822|-0.5822	10|5	0.66056|.	D|.	0.02|.	-11.6273|-11.6273	10.1164|10.1164	0.42593|0.42593	0.9186:0.0:0.0814:0.0|0.9186:0.0:0.0814:0.0	.|.	1089|.	Q9P2H0|.	K1377_HUMAN|.	I|H	1089;890|52	ENSP00000263468:K1089I;ENSP00000443184:K890I|.	ENSP00000263468:K1089I|.	K|Q	+|+	2|3	0|2	KIAA1377|KIAA1377	101368740|101368740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.601000|0.601000	0.36947|0.36947	3.757000|3.757000	0.55212|0.55212	0.931000|0.931000	0.37242|0.37242	0.397000|0.397000	0.26171|0.26171	AAA|CAA	KIAA1377	-	NULL	ENSG00000110318		0.244	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	144	0.00	0	A	NM_020802		101863530	101863530	+1	no_errors	ENST00000263468	ensembl	human	known	69_37n	missense	140	14.11	23	SNP	1.000	T
CFAP97	57587	genome.wustl.edu	37	4	186097055	186097055	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:186097055G>A	ENST00000458385.2	-	3	1324	c.1205C>T	c.(1204-1206)gCg>gTg	p.A402V	KIAA1430_ENST00000296775.6_Missense_Mutation_p.A402V|KIAA1430_ENST00000514798.1_Missense_Mutation_p.A402V|KIAA1430_ENST00000502992.1_5'UTR	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		402										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGGCTTTTCCGCCTGTCTTGA	0.453																																						dbGAP											0													135.0	125.0	128.0					4																	186097055		1833	4078	5911	-	-	-	SO:0001583	missense	0																														ENST00000458385.2:c.1205C>T	4.37:g.186097055G>A	ENSP00000409964:p.Ala402Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	NULL	p.A402V	ENST00000458385.2	37	c.1205	CCDS47168.1	4	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578519	0.86645	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.44881	2.23;0.91;0.91	6.17	6.17	0.99709	.	0.130219	0.51477	D	0.000084	T	0.60650	0.2285	L	0.44542	1.39	0.41610	D	0.988902	D;D	0.89917	0.998;1.0	P;D	0.78314	0.89;0.991	T	0.58730	-0.7585	10	0.72032	D	0.01	-18.5438	20.4898	0.99202	0.0:0.0:1.0:0.0	.	402;402	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	V	402	ENSP00000409964:A402V;ENSP00000423312:A402V;ENSP00000296775:A402V	ENSP00000296775:A402V	A	-	2	0	KIAA1430	186334049	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	4.144000	0.58057	2.941000	0.99782	0.655000	0.94253	GCG	KIAA1430	-	NULL	ENSG00000164323		0.453	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	269	0.00	0	G			186097055	186097055	-1	no_errors	ENST00000296775	ensembl	human	known	69_37n	missense	193	13.45	30	SNP	1.000	A
RIC1	57589	genome.wustl.edu	37	9	5765498	5765498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:5765498C>T	ENST00000414202.2	+	20	3117	c.2926C>T	c.(2926-2928)Cga>Tga	p.R976*	KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R897*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R897*|KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R860*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R976*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.R897*(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGACCTTTGTCGACACATGAT	0.443																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											186.0	171.0	176.0					9																	5765498		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000414202.2:c.2926C>T	9.37:g.5765498C>T	ENSP00000416696:p.Arg976*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.R897*	ENST00000414202.2	37	c.2689	CCDS34982.2	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.324379|7.324379	0.98214|0.98214	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71796	.|0.3382	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68720	.|-0.5334	.|4	0.09590|.	T|.	0.72|.	-10.5606|-10.5606	15.3963|15.3963	0.74798|0.74798	0.1392:0.8608:0.0:0.0|0.1392:0.8608:0.0:0.0	.|.	.|.	.|.	.|.	X|L	976;976;897;897;860|867	.|.	ENSP00000251879:R976X|.	R|S	+|+	1|2	2|0	KIAA1432|KIAA1432	5755498|5755498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.624000|0.624000	0.37722|0.37722	4.517000|4.517000	0.60503|0.60503	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CGA|TCG	KIAA1432	-	pfam_Ribosome_control_1	ENSG00000107036		0.443	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	496	0.00	0	C			5765498	5765498	+1	no_errors	ENST00000418622	ensembl	human	known	69_37n	nonsense	298	28.02	116	SNP	1.000	T
KIAA1468	57614	genome.wustl.edu	37	18	59931995	59931995	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:59931995T>G	ENST00000398130.2	+	18	2773	c.2541T>G	c.(2539-2541)atT>atG	p.I847M	KIAA1468_ENST00000256858.6_Missense_Mutation_p.I847M	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	847										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTGGCAAAATTAATGTTACTT	0.353																																						dbGAP											0													54.0	53.0	54.0					18																	59931995		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2541T>G	18.37:g.59931995T>G	ENSP00000381198:p.Ile847Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.L80*	ENST00000398130.2	37	c.239	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948352	0.53186	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.68479	-0.33;-0.33	5.7	1.88	0.25563	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.41824	1.3	0.51233	D	0.999915	B;P;D	0.63880	0.39;0.824;0.993	B;P;P	0.60473	0.284;0.474;0.875	T	0.60403	-0.7270	9	.	.	.	-10.3391	4.1548	0.10256	0.1482:0.3108:0.0:0.541	.	847;847;491	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	M	847	ENSP00000381198:I847M;ENSP00000256858:I847M	.	I	+	3	3	KIAA1468	58082975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.940000	0.28992	0.411000	0.25702	0.528000	0.53228	ATT	KIAA1468	-	NULL	ENSG00000134444		0.353	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	175	0.00	0	T	NM_020854		59931995	59931995	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588446	ensembl	human	known	69_37n	nonsense	85	18.27	19	SNP	1.000	G
KIAA1468	57614	genome.wustl.edu	37	18	59941304	59941304	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:59941304C>A	ENST00000398130.2	+	21	3084	c.2852C>A	c.(2851-2853)tCt>tAt	p.S951Y	KIAA1468_ENST00000256858.6_Missense_Mutation_p.S985Y	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	951										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CTGAAGGCTTCTTTTGTGGAA	0.348																																						dbGAP											0													107.0	104.0	105.0					18																	59941304		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2852C>A	18.37:g.59941304C>A	ENSP00000381198:p.Ser951Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.S985Y	ENST00000398130.2	37	c.2954	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795765	0.90453	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.69175	-0.38;-0.38	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.097095	0.64402	D	0.000001	T	0.73544	0.3600	L	0.48642	1.525	0.80722	D	1	P;P;P	0.48589	0.508;0.676;0.912	B;P;P	0.53062	0.404;0.506;0.717	T	0.68014	-0.5521	9	.	.	.	-10.7282	20.8794	0.99867	0.0:1.0:0.0:0.0	.	985;951;595	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	Y	951;985	ENSP00000381198:S951Y;ENSP00000256858:S985Y	.	S	+	2	0	KIAA1468	58092284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.941000	0.99782	0.655000	0.94253	TCT	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.348	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	375	0.00	0	C	NM_020854		59941304	59941304	+1	no_errors	ENST00000256858	ensembl	human	known	69_37n	missense	194	18.83	45	SNP	1.000	A
KIAA1549L	25758	genome.wustl.edu	37	11	33569318	33569318	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:33569318C>T	ENST00000321505.4	+	3	2683	c.2503C>T	c.(2503-2505)Ctc>Ttc	p.L835F	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L841F|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L841F			Q6ZVL6	K154L_HUMAN	KIAA1549-like	835						integral component of membrane (GO:0016021)											AGTTCTCTTTCTCACCCAAAG	0.507																																						dbGAP											0													125.0	114.0	118.0					11																	33569318		1974	4159	6133	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2503C>T	11.37:g.33569318C>T	ENSP00000315295:p.Leu835Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.L841F	ENST00000321505.4	37	c.2521	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774530	0.49786	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.64	3.68	0.42216	.	0.311444	0.26757	N	0.022652	T	0.62344	0.2420	M	0.64997	1.995	0.30475	N	0.772881	D;D	0.89917	0.998;1.0	D;D	0.75484	0.928;0.986	T	0.63699	-0.6578	9	0.72032	D	0.01	-4.9353	9.7841	0.40666	0.0:0.5817:0.3433:0.075	.	841;841	E9PAT2;Q6ZVL6-2	.;.	F	835;841;841;674	.	ENSP00000265654:L841F	L	+	1	0	C11orf41	33525894	1.000000	0.71417	0.997000	0.53966	0.483000	0.33249	0.539000	0.23175	0.624000	0.30286	0.455000	0.32223	CTC	KIAA1549L	-	NULL	ENSG00000110427		0.507	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	186	0.00	0	C	NM_012194		33569318	33569318	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	132	25.84	46	SNP	1.000	T
KIAA1549L	25758	genome.wustl.edu	37	11	33631499	33631499	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:33631499G>A	ENST00000321505.4	+	14	4555	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1465K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1459						integral component of membrane (GO:0016021)											TCCATTCACCGAGTCTAAAAA	0.468																																						dbGAP											0													59.0	60.0	60.0					11																	33631499		1866	4101	5967	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4375G>A	11.37:g.33631499G>A	ENSP00000315295:p.Glu1459Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.E1465K	ENST00000321505.4	37	c.4393	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498115	0.64186	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.54	5.54	0.83059	.	0.069066	0.56097	D	0.000024	T	0.73353	0.3576	L	0.39898	1.24	0.41829	D	0.990066	D	0.89917	1.0	D	0.91635	0.999	T	0.70718	-0.4795	8	.	.	.	-21.0812	19.4802	0.95007	0.0:0.0:1.0:0.0	.	1465	E9PAT2	.	K	1459;1465;1298	.	.	E	+	1	0	C11orf41	33588075	1.000000	0.71417	0.372000	0.25991	0.009000	0.06853	3.139000	0.50577	2.601000	0.87937	0.655000	0.94253	GAG	KIAA1549L	-	NULL	ENSG00000110427		0.468	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	191	0.00	0	G	NM_012194		33631499	33631499	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	145	11.59	19	SNP	0.997	A
KIAA1551	55196	genome.wustl.edu	37	12	32134355	32134355	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:32134355C>T	ENST00000312561.4	+	4	880	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	156																	ACAGAGTCAACTGATAACATC	0.423																																						dbGAP											0													83.0	77.0	79.0					12																	32134355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.466C>T	12.37:g.32134355C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	NULL	p.L156	ENST00000312561.4	37	c.466	CCDS8725.2	12																																																																																			KIAA1551	-	NULL	ENSG00000174718		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	85	0.00	0	C	NM_018169		32134355	32134355	+1	no_errors	ENST00000312561	ensembl	human	known	69_37n	silent	88	13.73	14	SNP	0.000	T
KIAA1551	55196	genome.wustl.edu	37	12	32136269	32136269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:32136269G>T	ENST00000312561.4	+	4	2794	c.2380G>T	c.(2380-2382)Gaa>Taa	p.E794*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	794																	CGTTATTAAAGAAGGCAGTGT	0.408																																						dbGAP											0													72.0	69.0	70.0					12																	32136269		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2380G>T	12.37:g.32136269G>T	ENSP00000310338:p.Glu794*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.E794*	ENST00000312561.4	37	c.2380	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	42	9.169051	0.99087	.	.	ENSG00000174718	ENST00000312561	.	.	.	5.75	5.75	0.90469	.	0.204029	0.34484	N	0.003939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4606	0.55729	0.0:0.0:0.833:0.167	.	.	.	.	X	794	.	.	E	+	1	0	C12orf35	32027536	0.995000	0.38212	1.000000	0.80357	0.504000	0.33889	1.653000	0.37323	2.701000	0.92244	0.650000	0.86243	GAA	KIAA1551	-	NULL	ENSG00000174718		0.408	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	55	0.00	0	G	NM_018169		32136269	32136269	+1	no_errors	ENST00000312561	ensembl	human	known	69_37n	nonsense	62	12.50	9	SNP	1.000	T
KIAA1551	55196	genome.wustl.edu	37	12	32140225	32140225	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:32140225G>T	ENST00000312561.4	+	5	5469	c.5055G>T	c.(5053-5055)aaG>aaT	p.K1685N	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1685																	TTGCTACAAAGAAAAGGACAC	0.313																																						dbGAP											0													71.0	72.0	72.0					12																	32140225		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5055G>T	12.37:g.32140225G>T	ENSP00000310338:p.Lys1685Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.K1685N	ENST00000312561.4	37	c.5055	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281503	0.23392	.	.	ENSG00000174718	ENST00000312561	T	0.15952	2.38	4.86	4.86	0.63082	.	0.430418	0.22031	N	0.065591	T	0.24122	0.0584	L	0.34521	1.04	0.31292	N	0.689367	D	0.57571	0.98	P	0.57152	0.814	T	0.05818	-1.0862	10	0.66056	D	0.02	.	11.1013	0.48177	0.0866:0.0:0.9134:0.0	.	1685	Q9HCM1	CL035_HUMAN	N	1685	ENSP00000310338:K1685N	ENSP00000310338:K1685N	K	+	3	2	C12orf35	32031492	1.000000	0.71417	0.930000	0.37139	0.009000	0.06853	5.075000	0.64407	2.383000	0.81215	0.462000	0.41574	AAG	KIAA1551	-	NULL	ENSG00000174718		0.313	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	144	0.00	0	G	NM_018169		32140225	32140225	+1	no_errors	ENST00000312561	ensembl	human	known	69_37n	missense	92	10.68	11	SNP	0.998	T
KIAA1671	85379	genome.wustl.edu	37	22	25428601	25428601	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:25428601G>A	ENST00000406486.4	+	5	1954	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	KIAA1671_ENST00000358431.3_Missense_Mutation_p.E523K			Q9BY89	K1671_HUMAN	KIAA1671	523										autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2)	9						TTCCAGCAACGAAGTCAAATA	0.502																																						dbGAP											0													2.0	2.0	2.0					22																	25428601		80	710	790	-	-	-	SO:0001583	missense	0				CCDS46676.1	22q11.23	2009-07-09			ENSG00000197077	ENSG00000197077			29345	protein-coding gene	gene with protein product						15289310	Standard	NM_001145206		Approved		uc003abn.3	Q9BY89	OTTHUMG00000150841	ENST00000406486.4:c.1567G>A	22.37:g.25428601G>A	ENSP00000385152:p.Glu523Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYF2|B7ZW08|Q5THZ5	Missense_Mutation	SNP	NULL	p.E523K	ENST00000406486.4	37	c.1567	CCDS46676.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.121590	0.94385	.	.	ENSG00000197077	ENST00000406486;ENST00000358431	.	.	.	4.98	4.98	0.66077	.	0.340420	0.24625	N	0.036922	T	0.48960	0.1529	L	0.29908	0.895	0.21861	N	0.999502	D	0.76494	0.999	D	0.62955	0.909	T	0.38993	-0.9635	9	0.32370	T	0.25	.	15.3387	0.74280	0.0:0.0:1.0:0.0	.	523	Q9BY89	K1671_HUMAN	K	523	.	ENSP00000351207:E523K	E	+	1	0	KIAA1671	23758601	0.989000	0.36119	0.068000	0.19968	0.610000	0.37248	3.719000	0.54926	2.484000	0.83849	0.484000	0.47621	GAA	KIAA1671	-	NULL	ENSG00000197077		0.502	KIAA1671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1671	HGNC	protein_coding	OTTHUMT00000320306.6	27	0.00	0	G	NM_001145206		25428601	25428601	+1	no_errors	ENST00000358431	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	0.326	A
KIAA1683	80726	genome.wustl.edu	37	19	18376508	18376508	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:18376508C>T	ENST00000600328.3	-	3	2035	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	KIAA1683_ENST00000600359.3_Silent_p.A568A|KIAA1683_ENST00000392413.4_Silent_p.A614A			Q9H0B3	K1683_HUMAN	KIAA1683	614			A -> V (in dbSNP:rs16982285).			mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGTCTGTTTTCGCCTGTTTCT	0.562																																						dbGAP											0													59.0	64.0	62.0					19																	18376508		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1842G>A	19.37:g.18376508C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A614	ENST00000600328.3	37	c.1842	CCDS32958.1	19																																																																																			KIAA1683	-	NULL	ENSG00000130518		0.562	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	49	0.00	0	C			18376508	18376508	-1	no_errors	ENST00000392413	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.000	T
KIAA1731	85459	genome.wustl.edu	37	11	93429925	93429925	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:93429925C>T	ENST00000325212.6	+	15	2009	c.1847C>T	c.(1846-1848)tCg>tTg	p.S616L	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Missense_Mutation_p.S616L|KIAA1731_ENST00000531700.1_5'UTR			Q9C0D2	K1731_HUMAN	KIAA1731	616						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGTGCCCATCGGTGTCAGCT	0.408																																						dbGAP											0													90.0	71.0	77.0					11																	93429925		692	1591	2283	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.1847C>T	11.37:g.93429925C>T	ENSP00000316681:p.Ser616Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.S616L	ENST00000325212.6	37	c.1847	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	C	9.313	1.056091	0.19907	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.12361	2.69;2.69	5.32	4.4	0.53042	.	0.167616	0.29087	N	0.013194	T	0.16599	0.0399	L	0.32530	0.975	0.40919	D	0.984296	D	0.59767	0.986	P	0.49085	0.6	T	0.01814	-1.1268	10	0.72032	D	0.01	-2.457	13.3639	0.60671	0.0:0.8417:0.1583:0.0	.	616	Q9C0D2	K1731_HUMAN	L	616	ENSP00000316681:S616L;ENSP00000406505:S616L	ENSP00000316681:S616L	S	+	2	0	KIAA1731	93069573	0.066000	0.20996	0.008000	0.14137	0.139000	0.21198	1.963000	0.40452	1.243000	0.43853	-0.150000	0.13652	TCG	KIAA1731	-	NULL	ENSG00000166004		0.408	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	88	0.00	0	C	NM_033395		93429925	93429925	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	78	19.59	19	SNP	0.174	T
KIAA1731	85459	genome.wustl.edu	37	11	93430503	93430503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:93430503G>T	ENST00000325212.6	+	15	2587	c.2425G>T	c.(2425-2427)Gaa>Taa	p.E809*	KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000411936.1_Nonsense_Mutation_p.E809*|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	809						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATTCAAGAACCCTTTTC	0.398																																						dbGAP											0													77.0	60.0	65.0					11																	93430503		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.2425G>T	11.37:g.93430503G>T	ENSP00000316681:p.Glu809*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Nonsense_Mutation	SNP	NULL	p.E809*	ENST00000325212.6	37	c.2425	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288300	0.80803	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	.	.	.	4.62	1.58	0.23477	.	0.496913	0.16952	N	0.192842	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.3969	5.6761	0.17749	0.1862:0.1609:0.6529:0.0	.	.	.	.	X	809	.	ENSP00000316681:E809X	E	+	1	0	KIAA1731	93070151	0.121000	0.22262	0.001000	0.08648	0.008000	0.06430	1.354000	0.34056	0.231000	0.21079	0.650000	0.86243	GAA	KIAA1731	-	NULL	ENSG00000166004		0.398	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	119	0.00	0	G	NM_033395		93430503	93430503	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	nonsense	82	12.77	12	SNP	0.003	T
KIAA1755	85449	genome.wustl.edu	37	20	36845691	36845691	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:36845691G>A	ENST00000279024.4	-	13	3136	c.2865C>T	c.(2863-2865)ctC>ctT	p.L955L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	955										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAGCGTCTCGAGGTCCGTGC	0.667																																						dbGAP											0													32.0	31.0	32.0					20																	36845691		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2865C>T	20.37:g.36845691G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.L955	ENST00000279024.4	37	c.2865	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.667	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	40	0.00	0	G	NM_001029864		36845691	36845691	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	0.966	A
KIAA1755	85449	genome.wustl.edu	37	20	36851970	36851970	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:36851970G>A	ENST00000279024.4	-	9	2509	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	746										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGGCCTTCTCGAATTCCTCGA	0.602																																						dbGAP											0													53.0	51.0	51.0					20																	36851970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2238C>T	20.37:g.36851970G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.F746	ENST00000279024.4	37	c.2238	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	111	0.00	0	G	NM_001029864		36851970	36851970	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	silent	93	18.42	21	SNP	0.947	A
KIAA1841	84542	genome.wustl.edu	37	2	61315524	61315524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61315524G>T	ENST00000402291.1	+	10	1250	c.1009G>T	c.(1009-1011)Gaa>Taa	p.E337*	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.E337*|KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.E337*|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.E337*	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	337										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTTAACAAAAGAAACAGAAAG	0.299																																						dbGAP											0													59.0	59.0	59.0					2																	61315524		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1009G>T	2.37:g.61315524G>T	ENSP00000385579:p.Glu337*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AF0|Q6ZND0|Q96JI6	Nonsense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.E337*	ENST00000402291.1	37	c.1009	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.720687	0.96839	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.77	5.77	0.91146	.	0.100439	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.6816	20.3559	0.98840	0.0:0.0:1.0:0.0	.	.	.	.	X	337	.	ENSP00000295031:E337X	E	+	1	0	KIAA1841	61169028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.895000	0.92512	2.890000	0.99128	0.585000	0.79938	GAA	KIAA1841	-	pfam_DUF3342	ENSG00000162929		0.299	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	250	0.00	0	G	NM_032506		61315524	61315524	+1	no_errors	ENST00000356719	ensembl	human	known	69_37n	nonsense	207	12.66	30	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113377887	113377887	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:113377887G>A	ENST00000478658.1	-	5	2659	c.2642C>T	c.(2641-2643)tCg>tTg	p.S881L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S881L			Q68DE3	K2018_HUMAN	KIAA2018	881	Ser-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTAGATTTCGATACAGACTC	0.428																																						dbGAP											0													124.0	116.0	119.0					3																	113377887		1926	4135	6061	-	-	-	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2642C>T	3.37:g.113377887G>A	ENSP00000420721:p.Ser881Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S881L	ENST00000478658.1	37	c.2642	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790617	0.16258	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15372	2.43;2.43	4.64	3.76	0.43208	.	0.640184	0.14823	N	0.296306	T	0.09512	0.0234	N	0.08118	0	0.23685	N	0.997114	B	0.02656	0.0	B	0.04013	0.001	T	0.27434	-1.0074	10	0.24483	T	0.36	-0.0128	13.2123	0.59832	0.0786:0.0:0.9214:0.0	.	881	Q68DE3	K2018_HUMAN	L	881	ENSP00000320794:S881L;ENSP00000420721:S881L	ENSP00000320794:S881L	S	-	2	0	KIAA2018	114860577	0.938000	0.31826	0.730000	0.30809	0.387000	0.30353	3.951000	0.56684	1.256000	0.44068	0.650000	0.86243	TCG	KIAA2018	-	NULL	ENSG00000176542		0.428	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	217	0.00	0	G	NM_001009899		113377887	113377887	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	missense	158	23.92	50	SNP	0.692	A
KIAA2018	205717	genome.wustl.edu	37	3	113379494	113379494	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:113379494C>T	ENST00000478658.1	-	5	1052	c.1035G>A	c.(1033-1035)tcG>tcA	p.S345S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.S345S			Q68DE3	K2018_HUMAN	KIAA2018	345						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGGAGGCTGCGAGCAGACTG	0.478																																						dbGAP											0													82.0	78.0	79.0					3																	113379494		1953	4157	6110	-	-	-	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1035G>A	3.37:g.113379494C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S345	ENST00000478658.1	37	c.1035	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	223	0.45	1	C	NM_001009899		113379494	113379494	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	silent	189	14.48	32	SNP	0.980	T
KIF11	3832	genome.wustl.edu	37	10	94366413	94366413	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:94366413G>A	ENST00000260731.3	+	3	338	c.248G>A	c.(247-249)cGa>cAa	p.R83Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	83	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGTTTACCGAAGTGTTGTT	0.284																																					Colon(47;212 1003 2764 4062 8431)	dbGAP											0													241.0	237.0	238.0					10																	94366413		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.248G>A	10.37:g.94366413G>A	ENSP00000260731:p.Arg83Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R83Q	ENST00000260731.3	37	c.248	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165058	0.78339	.	.	ENSG00000138160	ENST00000260731	D	0.85556	-2.0	5.94	5.94	0.96194	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	N	0.04787	-0.16	0.58432	D	0.999994	D	0.61697	0.99	P	0.47915	0.561	T	0.78188	-0.2301	10	0.27785	T	0.31	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	83	P52732	KIF11_HUMAN	Q	83	ENSP00000260731:R83Q	ENSP00000260731:R83Q	R	+	2	0	KIF11	94356393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.341000	0.72977	2.816000	0.96949	0.561000	0.74099	CGA	KIF11	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000138160		0.284	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	457	0.00	0	G	NM_004523		94366413	94366413	+1	no_errors	ENST00000260731	ensembl	human	known	69_37n	missense	257	30.08	111	SNP	1.000	A
KIF13A	63971	genome.wustl.edu	37	6	17856348	17856348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:17856348C>A	ENST00000259711.6	-	5	331	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	KIF13A_ENST00000378814.5_Nonsense_Mutation_p.E76*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E76*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E76*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E76*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E76*(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAAACCACTTCTTGACCTAAA	0.303																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											53.0	49.0	50.0					6																	17856348		1792	4061	5853	-	-	-	SO:0001587	stop_gained	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.226G>T	6.37:g.17856348C>A	ENSP00000259711:p.Glu76*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E76*	ENST00000259711.6	37	c.226	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372496	0.82573	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.87	5.87	0.94306	.	0.051954	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	.	.	.	X	76	.	ENSP00000259711:E76X	E	-	1	0	KIF13A	17964327	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.620000	0.67736	2.941000	0.99782	0.655000	0.94253	GAA	KIF13A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000137177		0.303	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	186	0.53	1	C			17856348	17856348	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	nonsense	125	14.97	22	SNP	1.000	A
KIF14	9928	genome.wustl.edu	37	1	200523595	200523595	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:200523595C>A	ENST00000367350.4	-	29	5006		c.e29+1			NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14						ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GAGAATCATACCTTTCAGTGC	0.318																																						dbGAP											0													54.0	54.0	54.0					1																	200523595		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4567+1G>T	1.37:g.200523595C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Splice_Site	SNP	-	e28+1	ENST00000367350.4	37	c.4567+1	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549702	0.65311	.	.	ENSG00000118193	ENST00000367350	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0471	0.80727	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF14	198790218	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.208000	0.58486	2.805000	0.96524	0.644000	0.83932	.	KIF14	-	-	ENSG00000118193		0.318	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	208	0.48	1	C	NM_014875	Intron	200523595	200523595	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	splice_site	141	10.19	16	SNP	1.000	A
KIF14	9928	genome.wustl.edu	37	1	200586888	200586888	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:200586888G>T	ENST00000367350.4	-	2	1402	c.964C>A	c.(964-966)Ctt>Att	p.L322I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	322	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTATTTGCAAGAAAGGAACTT	0.398																																						dbGAP											0													125.0	119.0	121.0					1																	200586888		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.964C>A	1.37:g.200586888G>T	ENSP00000356319:p.Leu322Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L322I	ENST00000367350.4	37	c.964	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	5.440	0.266329	0.10294	.	.	ENSG00000118193	ENST00000367350	T	0.73469	-0.75	5.48	1.48	0.22813	.	0.432373	0.20279	N	0.095486	T	0.57007	0.2024	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.37337	-0.9710	10	0.22706	T	0.39	.	9.5593	0.39360	0.3126:0.0:0.6874:0.0	.	322	Q15058	KIF14_HUMAN	I	322	ENSP00000356319:L322I	ENSP00000356319:L322I	L	-	1	0	KIF14	198853511	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.261000	0.18442	0.020000	0.15106	0.585000	0.79938	CTT	KIF14	-	NULL	ENSG00000118193		0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	213	0.00	0	G	NM_014875		200586888	200586888	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	missense	176	22.47	51	SNP	0.001	T
KIF15	56992	genome.wustl.edu	37	3	44847350	44847350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44847350G>T	ENST00000326047.4	+	16	1992	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.E250*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	615					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAGGCAGCTAGAATTGGAATC	0.353																																						dbGAP											0													109.0	128.0	121.0					3																	44847350		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1843G>T	3.37:g.44847350G>T	ENSP00000324020:p.Glu615*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RV9|Q69YL6|Q96JX7|Q9H280	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E615*	ENST00000326047.4	37	c.1843	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.427732	0.97559	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.308	0.94171	0.0:0.0:1.0:0.0	.	.	.	.	X	615;387;614;250	.	ENSP00000324020:E615X	E	+	1	0	KIF15	44822354	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.748000	0.68697	2.640000	0.89533	0.655000	0.94253	GAA	KIF15	-	NULL	ENSG00000163808		0.353	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	134	0.00	0	G			44847350	44847350	+1	no_errors	ENST00000326047	ensembl	human	known	69_37n	nonsense	82	12.77	12	SNP	1.000	T
KIF16B	55614	genome.wustl.edu	37	20	16360622	16360622	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:16360622C>A	ENST00000354981.2	-	19	2182	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.E675D|KIF16B_ENST00000408042.1_Missense_Mutation_p.E675D	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	675	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATTTTTCCTTCTCCGCAAGTA	0.498																																						dbGAP											0													132.0	117.0	122.0					20																	16360622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2025G>T	20.37:g.16360622C>A	ENSP00000347076:p.Glu675Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E675D	ENST00000354981.2	37	c.2025	CCDS13122.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.956079|2.956079	0.53293|0.53293	.|.	.|.	ENSG00000089177|ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042|ENST00000450176	T;T;T|.	0.17854|.	2.25;2.25;2.25|.	5.58|5.58	2.25|2.25	0.28309|0.28309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60766|0.60766	0.2294|0.2294	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.998|.	D;D;D;D|.	0.79784|.	0.993;0.993;0.993;0.984|.	T|T	0.57081|0.57081	-0.7872|-0.7872	10|5	0.37606|.	T|.	0.19|.	.|.	5.3932|5.3932	0.16255|0.16255	0.0:0.4523:0.0:0.5477|0.0:0.4523:0.0:0.5477	.|.	675;675;675;675|.	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93|.	.;.;.;KI16B_HUMAN|.	D|I	675|110	ENSP00000347076:E675D;ENSP00000347995:E675D;ENSP00000384164:E675D|.	ENSP00000347076:E675D|.	E|R	-|-	3|2	2|0	KIF16B|KIF16B	16308622|16308622	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.558000|0.558000	0.35554|0.35554	1.926000|1.926000	0.40084|0.40084	0.728000|0.728000	0.32382|0.32382	0.655000|0.655000	0.94253|0.94253	GAG|AGA	KIF16B	-	NULL	ENSG00000089177		0.498	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	300	0.00	0	C	NM_017683		16360622	16360622	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	275	25.68	95	SNP	1.000	A
KIF16B	55614	genome.wustl.edu	37	20	16493483	16493483	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:16493483C>T	ENST00000354981.2	-	5	591	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R145Q|KIF16B_ENST00000408042.1_Missense_Mutation_p.R145Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R145Q(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GACTTCAGTTCGAAAAGAAGC	0.483																																						dbGAP											3	Substitution - Missense(3)	large_intestine(3)											107.0	93.0	98.0					20																	16493483		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.434G>A	20.37:g.16493483C>T	ENSP00000347076:p.Arg145Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R145Q	ENST00000354981.2	37	c.434	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.593849	0.96602	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74737	-0.87;-0.87;-0.87	5.79	5.79	0.91817	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	N	0.13327	0.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.978;0.978;0.983;0.99	T	0.81118	-0.1078	10	0.72032	D	0.01	.	18.2217	0.89904	0.0:1.0:0.0:0.0	.	145;145;145;145	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	Q	145	ENSP00000347076:R145Q;ENSP00000347995:R145Q;ENSP00000384164:R145Q	ENSP00000347076:R145Q	R	-	2	0	KIF16B	16441483	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.482000	0.81143	2.739000	0.93911	0.655000	0.94253	CGA	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.483	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	281	0.00	0	C	NM_017683		16493483	16493483	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	168	26.96	62	SNP	1.000	T
KIF17	57576	genome.wustl.edu	37	1	20998630	20998630	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:20998630G>A	ENST00000247986.2	-	12	2833	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	KIF17_ENST00000375044.1_Silent_p.I741I|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.I841I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	841					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCAAGTAATCGATCTTCTCCA	0.552																																						dbGAP											0													85.0	67.0	73.0					1																	20998630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2523C>T	1.37:g.20998630G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I841	ENST00000247986.2	37	c.2523	CCDS213.1	1																																																																																			KIF17	-	NULL	ENSG00000117245		0.552	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	117	0.00	0	G	NM_020816		20998630	20998630	-1	no_errors	ENST00000247986	ensembl	human	known	69_37n	silent	81	18.18	18	SNP	0.930	A
KIF17	57576	genome.wustl.edu	37	1	21014186	21014186	+	Missense_Mutation	SNP	C	C	T	rs367672816		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:21014186C>T	ENST00000247986.2	-	8	1943	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	KIF17_ENST00000375044.1_Missense_Mutation_p.E445K|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.E545K			Q9P2E2	KIF17_HUMAN	kinesin family member 17	545					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGTTTCTTCGAGCGAGGAT	0.572																																						dbGAP											0													53.0	51.0	52.0					1																	21014186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1633G>A	1.37:g.21014186C>T	ENSP00000247986:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E545K	ENST00000247986.2	37	c.1633	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496753	0.26861	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.70631	-0.5;-0.38;-0.38	4.94	0.982	0.19762	.	0.252390	0.19997	U	0.101435	T	0.52853	0.1760	L	0.43152	1.355	0.09310	N	1	B;B	0.31054	0.306;0.203	B;B	0.22152	0.038;0.017	T	0.36817	-0.9732	10	0.36615	T	0.2	.	4.5081	0.11898	0.0:0.5678:0.1619:0.2703	.	545;545	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	K	445;545;545	ENSP00000364184:E445K;ENSP00000383311:E545K;ENSP00000247986:E545K	ENSP00000247986:E545K	E	-	1	0	KIF17	20886773	0.001000	0.12720	0.000000	0.03702	0.061000	0.15899	0.311000	0.19380	0.031000	0.15407	0.591000	0.81541	GAA	KIF17	-	NULL	ENSG00000117245		0.572	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	91	0.00	0	C	NM_020816		21014186	21014186	-1	no_errors	ENST00000247986	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	0.001	T
KIF1A	547	genome.wustl.edu	37	2	241712600	241712600	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:241712600C>T	ENST00000320389.7	-	13	1269	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	KIF1A_ENST00000498729.2_Missense_Mutation_p.E371K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	371					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCTTCAGCTCGCGGATCAGC	0.617																																						dbGAP											0													79.0	86.0	84.0					2																	241712600		2195	4297	6492	-	-	-	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1111G>A	2.37:g.241712600C>T	ENSP00000322791:p.Glu371Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.E371K	ENST00000320389.7	37	c.1111	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.867822|4.867822	0.91587|0.91587	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000428768	T;T;T|T	0.74737|0.76578	-0.76;-0.8;-0.87|-1.03	3.83|3.83	3.83|3.83	0.44106|0.44106	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.89033|0.89033	0.6600|0.6600	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	D;D;D|.	0.81914|.	0.947;0.995;0.972|.	D|D	0.91972|0.91972	0.5587|0.5587	10|7	0.87932|0.87932	D|D	0|0	.|.	15.7385|15.7385	0.77866|0.77866	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	371;371;371|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	K|Q	371|178	ENSP00000322791:E371K;ENSP00000438388:E371K;ENSP00000384231:E371K|ENSP00000395443:R178Q	ENSP00000322791:E371K|ENSP00000395443:R178Q	E|R	-|-	1|2	0|0	KIF1A|KIF1A	241361273|241361273	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.954000|0.954000	0.61252|0.61252	7.626000|7.626000	0.83164|0.83164	1.688000|1.688000	0.51068|0.51068	0.491000|0.491000	0.48974|0.48974	GAG|CGA	KIF1A	-	NULL	ENSG00000130294		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	47	0.00	0	C	NM_138483		241712600	241712600	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	T
KIF1B	23095	genome.wustl.edu	37	1	10338079	10338079	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:10338079C>T	ENST00000377086.1	+	13	1275	c.1073C>T	c.(1072-1074)gCt>gTt	p.A358V	KIF1B_ENST00000377083.1_Missense_Mutation_p.A352V|KIF1B_ENST00000377081.1_Missense_Mutation_p.A358V|KIF1B_ENST00000377093.4_Missense_Mutation_p.A352V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A352V			O60333	KIF1B_HUMAN	kinesin family member 1B	358					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAATGCAATGCTGTTATCAAT	0.398																																						dbGAP											0													98.0	85.0	89.0					1																	10338079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1073C>T	1.37:g.10338079C>T	ENSP00000366290:p.Ala358Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A352V	ENST00000377086.1	37	c.1055		1	.	.	.	.	.	.	.	.	.	.	C	36	5.603505	0.96626	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.25	5.25	0.73442	Kinesin, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.70903	2.155	0.80722	D	1	D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.886;0.998;1.0	D;D;D;D;P;D;D	0.91635	0.999;0.994;0.999;0.999;0.621;0.987;0.997	D	0.94564	0.7765	10	0.87932	D	0	.	19.2117	0.93758	0.0:1.0:0.0:0.0	.	358;358;358;358;358;352;352	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	V	358;352;352;358;352;358	ENSP00000263934:A352V;ENSP00000366297:A352V;ENSP00000366290:A358V;ENSP00000366287:A352V;ENSP00000366284:A358V	ENSP00000263934:A352V	A	+	2	0	KIF1B	10260666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.611000	0.88343	0.591000	0.81541	GCT	KIF1B	-	smart_Kinesin_motor_dom	ENSG00000054523		0.398	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	312	0.00	0	C			10338079	10338079	+1	no_errors	ENST00000263934	ensembl	human	known	69_37n	missense	169	13.33	26	SNP	1.000	T
KIF20B	9585	genome.wustl.edu	37	10	91486272	91486272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:91486272G>T	ENST00000371728.3	+	16	2289	c.2224G>T	c.(2224-2226)Gaa>Taa	p.E742*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E742*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.E742*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E702*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	742					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAGAGAGAAAATGGTAA	0.274																																						dbGAP											0													29.0	28.0	28.0					10																	91486272		2189	4289	6478	-	-	-	SO:0001587	stop_gained	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2224G>T	10.37:g.91486272G>T	ENSP00000360793:p.Glu742*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E742*	ENST00000371728.3	37	c.2224		10	.	.	.	.	.	.	.	.	.	.	G	37	6.256428	0.97417	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	.	.	.	5.07	3.12	0.35913	.	1.065500	0.07318	N	0.877023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.002	7.277	0.26290	0.1256:0.3533:0.521:0.0	.	.	.	.	X	702;742;742;742;309	.	ENSP00000260753:E702X	E	+	1	0	KIF20B	91476252	1.000000	0.71417	0.985000	0.45067	0.666000	0.39218	0.803000	0.27083	0.608000	0.30000	0.591000	0.81541	GAA	KIF20B	-	NULL	ENSG00000138182		0.274	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	123	0.00	0	G	NM_016195		91486272	91486272	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	nonsense	81	11.96	11	SNP	0.858	T
KIF20B	9585	genome.wustl.edu	37	10	91497828	91497828	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:91497828A>C	ENST00000371728.3	+	20	3295	c.3230A>C	c.(3229-3231)cAg>cCg	p.Q1077P	KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1077P|KIF20B_ENST00000416354.1_Missense_Mutation_p.Q1107P|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1037P	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1077					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAGTCATCAGATTGAGGAA	0.353																																						dbGAP											0													48.0	55.0	52.0					10																	91497828		2187	4288	6475	-	-	-	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3230A>C	10.37:g.91497828A>C	ENSP00000360793:p.Gln1077Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1107P	ENST00000371728.3	37	c.3320		10	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260802	0.23051	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70282	-0.39;-0.4;-0.47;-0.4	5.68	4.56	0.56223	.	0.134490	0.34507	N	0.003919	T	0.69700	0.3140	M	0.65975	2.015	0.30226	N	0.796303	P;P	0.40875	0.612;0.731	B;P	0.45071	0.278;0.468	T	0.73088	-0.4093	10	0.72032	D	0.01	-3.1512	6.3828	0.21544	0.7858:0.0:0.0736:0.1405	.	1077;1037	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	P	1037;1107;1077;1077	ENSP00000260753:Q1037P;ENSP00000411545:Q1107P;ENSP00000377830:Q1077P;ENSP00000360793:Q1077P	ENSP00000260753:Q1037P	Q	+	2	0	KIF20B	91487808	0.546000	0.26457	0.998000	0.56505	0.560000	0.35617	0.706000	0.25690	2.162000	0.67917	0.482000	0.46254	CAG	KIF20B	-	NULL	ENSG00000138182		0.353	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	65	0.00	0	A	NM_016195		91497828	91497828	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	missense	44	30.77	20	SNP	0.969	C
KIF22	3835	genome.wustl.edu	37	16	29810435	29810435	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:29810435G>A	ENST00000160827.4	+	5	729	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	KIF22_ENST00000400751.5_Missense_Mutation_p.R162Q|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.R162Q|KIF22_ENST00000561482.1_Missense_Mutation_p.R162Q	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	230	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCAGCCAGTCGAAATCGGACT	0.607																																						dbGAP											0													40.0	42.0	41.0					16																	29810435		2197	4296	6493	-	-	-	SO:0001583	missense	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.689G>A	16.37:g.29810435G>A	ENSP00000160827:p.Arg230Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R230Q	ENST00000160827.4	37	c.689	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182304	0.21870	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74421	-0.84;-0.84	5.95	5.0	0.66597	Kinesin, motor domain (4);	.	.	.	.	T	0.46288	0.1385	N	0.02736	-0.51	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.39961	-0.9588	9	0.10377	T	0.69	.	9.1882	0.37182	0.163:0.0:0.837:0.0	.	162;230	B7Z265;Q14807	.;KIF22_HUMAN	Q	230;162	ENSP00000160827:R230Q;ENSP00000383562:R162Q	ENSP00000160827:R230Q	R	+	2	0	KIF22	29717936	0.996000	0.38824	0.986000	0.45419	0.972000	0.66771	2.381000	0.44336	1.532000	0.49169	0.655000	0.94253	CGA	KIF22	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000079616		0.607	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	36	0.00	0	G			29810435	29810435	+1	no_errors	ENST00000160827	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.903	A
KIF23	9493	genome.wustl.edu	37	15	69737380	69737380	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:69737380G>T	ENST00000260363.4	+	19	2748	c.2631G>T	c.(2629-2631)aaG>aaT	p.K877N	KIF23_ENST00000559279.1_Splice_Site_p.K773N|KIF23_ENST00000395392.2_Splice_Site_p.K870N|KIF23_ENST00000352331.4_Splice_Site_p.K773N|KIF23_ENST00000537891.1_Splice_Site_p.K590N|KIF23_ENST00000558585.1_Splice_Site_p.K590N	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	877	Interaction with ARF6.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AACTAATTAAGGTAAAAAACT	0.373																																						dbGAP											0													36.0	37.0	37.0					15																	69737380		2199	4298	6497	-	-	-	SO:0001630	splice_region_variant	0			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2631+1G>T	15.37:g.69737380G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K877N	ENST00000260363.4	37	c.2631	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674677	0.88445	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	D;D;D	0.86366	-2.0;-1.87;-2.11	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.993	D	0.94791	0.7962	10	0.87932	D	0	.	18.5333	0.91000	0.0:0.0:1.0:0.0	.	590;773;877	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	N	877;773;877;590	ENSP00000260363:K877N;ENSP00000304978:K773N;ENSP00000442969:K590N	ENSP00000260363:K877N	K	+	3	2	KIF23	67524434	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.722000	0.98770	2.629000	0.89072	0.655000	0.94253	AAG	KIF23	-	NULL	ENSG00000137807		0.373	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		61	0.00	0	G		Missense_Mutation	69737380	69737380	+1	no_errors	ENST00000260363	ensembl	human	known	69_37n	missense	61	10.29	7	SNP	1.000	T
KIF24	347240	genome.wustl.edu	37	9	34306378	34306378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:34306378G>A	ENST00000402558.2	-	2	709	c.685C>T	c.(685-687)Cga>Tga	p.R229*	KIF24_ENST00000379166.2_Nonsense_Mutation_p.R229*|KIF24_ENST00000379174.3_Nonsense_Mutation_p.R229*|KIF24_ENST00000345050.2_Nonsense_Mutation_p.R229*			Q5T7B8	KIF24_HUMAN	kinesin family member 24	229	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GGGCGTTTTCGAACACAAACT	0.368																																						dbGAP											0													183.0	175.0	177.0					9																	34306378		1817	4085	5902	-	-	-	SO:0001587	stop_gained	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.685C>T	9.37:g.34306378G>A	ENSP00000384433:p.Arg229*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R229*	ENST00000402558.2	37	c.685	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	G	38	6.909646	0.97928	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	.	.	.	5.74	4.82	0.62117	.	0.000000	0.35585	N	0.003101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	15.7378	0.77859	0.0:0.0:0.8501:0.1498	.	.	.	.	X	229	.	ENSP00000340179:R229X	R	-	1	2	KIF24	34296378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.192000	0.58378	1.360000	0.45960	0.655000	0.94253	CGA	KIF24	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186638		0.368	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	228	0.00	0	G			34306378	34306378	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	nonsense	127	16.45	25	SNP	1.000	A
KIF26B	55083	genome.wustl.edu	37	1	245850446	245850446	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:245850446G>T	ENST00000407071.2	+	12	4601	c.4161G>T	c.(4159-4161)atG>atT	p.M1387I	KIF26B_ENST00000366518.4_Missense_Mutation_p.M1006I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1387					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACATCCCCATGAAGACCAATA	0.582																																						dbGAP											0													55.0	60.0	58.0					1																	245850446		2049	4188	6237	-	-	-	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4161G>T	1.37:g.245850446G>T	ENSP00000385545:p.Met1387Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1387I	ENST00000407071.2	37	c.4161	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575423	0.28092	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.75821	-0.97;-0.97	5.52	4.59	0.56863	.	.	.	.	.	T	0.64713	0.2623	L	0.46157	1.445	0.29282	N	0.869949	B;B	0.22480	0.07;0.07	B;B	0.11329	0.006;0.006	T	0.54036	-0.8353	9	0.25106	T	0.35	.	9.0836	0.36567	0.074:0.0:0.7787:0.1473	.	1006;1387	B7WPD9;Q2KJY2	.;KI26B_HUMAN	I	1387;1006;1003	ENSP00000385545:M1387I;ENSP00000355475:M1006I	ENSP00000355475:M1006I	M	+	3	0	KIF26B	243917069	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.880000	0.48530	2.756000	0.94617	0.561000	0.74099	ATG	KIF26B	-	NULL	ENSG00000162849		0.582	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	22	0.00	0	G	XM_371354		245850446	245850446	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	T
KIF27	55582	genome.wustl.edu	37	9	86498853	86498853	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:86498853C>T	ENST00000297814.2	-	10	2463	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	KIF27_ENST00000334204.2_Missense_Mutation_p.E774K|KIF27_ENST00000376347.1_Missense_Mutation_p.E165K|KIF27_ENST00000413982.1_Missense_Mutation_p.E774K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	774					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCAATCAGTTCGACTTTTGCC	0.353																																						dbGAP											0													157.0	143.0	148.0					9																	86498853		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2320G>A	9.37:g.86498853C>T	ENSP00000297814:p.Glu774Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E774K	ENST00000297814.2	37	c.2320	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919558	0.33908	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.54866	0.55;1.6;0.55;0.55	5.36	4.47	0.54385	.	0.000000	0.64402	D	0.000018	T	0.51449	0.1675	M	0.79258	2.445	0.39150	D	0.962217	B;B;B	0.31209	0.131;0.313;0.015	B;B;B	0.25291	0.018;0.059;0.008	T	0.56890	-0.7904	10	0.51188	T	0.08	.	11.2475	0.49006	0.0:0.8026:0.127:0.0704	.	774;774;774	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	774;774;774;165	ENSP00000297814:E774K;ENSP00000401688:E774K;ENSP00000333928:E774K;ENSP00000365525:E165K	ENSP00000297814:E774K	E	-	1	0	KIF27	85688673	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	3.827000	0.55745	1.256000	0.44068	-0.224000	0.12420	GAA	KIF27	-	NULL	ENSG00000165115		0.353	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	352	0.00	0	C	NM_017576		86498853	86498853	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	missense	219	16.73	44	SNP	1.000	T
KIF27	55582	genome.wustl.edu	37	9	86502079	86502079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:86502079C>A	ENST00000297814.2	-	9	2259	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.E706*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.E97*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.E706*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	706					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAATTCAATTCTTGACTCTCC	0.279																																						dbGAP											0													55.0	54.0	54.0					9																	86502079		2201	4290	6491	-	-	-	SO:0001587	stop_gained	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2116G>T	9.37:g.86502079C>A	ENSP00000297814:p.Glu706*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E706*	ENST00000297814.2	37	c.2116	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.061988	0.97246	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	.	.	.	4.27	3.29	0.37713	.	0.239297	0.27210	N	0.020405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	8.5021	0.33163	0.0:0.7562:0.1565:0.0874	.	.	.	.	X	706;706;706;97	.	ENSP00000297814:E706X	E	-	1	0	KIF27	85691899	0.644000	0.27277	0.820000	0.32676	0.571000	0.35966	1.526000	0.35964	2.086000	0.62901	0.305000	0.20034	GAA	KIF27	-	NULL	ENSG00000165115		0.279	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	184	0.00	0	C	NM_017576		86502079	86502079	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	nonsense	85	26.09	30	SNP	0.604	A
KIF2A	3796	genome.wustl.edu	37	5	61669521	61669521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:61669521G>T	ENST00000401507.3	+	17	1965	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	KIF2A_ENST00000407818.3_Nonsense_Mutation_p.E590*|KIF2A_ENST00000506857.1_Nonsense_Mutation_p.E506*|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000381103.2_Nonsense_Mutation_p.E532*	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	552	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TAGGGTCAAAGAATTGACTGT	0.408																																						dbGAP											0													107.0	99.0	101.0					5																	61669521		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1654G>T	5.37:g.61669521G>T	ENSP00000385622:p.Glu552*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E590*	ENST00000401507.3	37	c.1768	CCDS3980.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.037907|5.037907	0.93630|0.93630	.|.	.|.	ENSG00000068796|ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857|ENST00000512006	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81113	.|0.4755	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78396	.|-0.2220	.|4	0.59425|0.42905	D|T	0.04|0.14	.|.	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	552;532;590;506|59	.|.	ENSP00000370493:E532X|ENSP00000421041:K59N	E|K	+|+	1|3	0|2	KIF2A|KIF2A	61705278|61705278	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.135000|0.135000	0.20990|0.20990	9.443000|9.443000	0.97568|0.97568	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAA|AAG	KIF2A	-	NULL	ENSG00000068796		0.408	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	378	0.00	0	G	NM_004520		61669521	61669521	+1	no_errors	ENST00000407818	ensembl	human	known	69_37n	nonsense	257	26.57	93	SNP	1.000	T
KIF3A	11127	genome.wustl.edu	37	5	132038600	132038600	+	Missense_Mutation	SNP	G	G	A	rs34718558		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:132038600G>A	ENST00000378746.4	-	11	1761	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R542C|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.R518C	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	515					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTTCTCTGCGAAGTTGCTCT	0.388																																						dbGAP											0													231.0	229.0	230.0					5																	132038600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1543C>T	5.37:g.132038600G>A	ENSP00000368020:p.Arg515Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R518C	ENST00000378746.4	37	c.1552	CCDS34235.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692711	0.88735	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	6.17	6.17	0.99709	.	0.050791	0.85682	D	0.000000	T	0.18425	0.0442	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.64830	0.994;0.99;0.99;0.994	P;P;P;P	0.47744	0.556;0.556;0.556;0.556	T	0.00028	-1.2296	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	542;542;515;541	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	C	515;518;542;43;542	ENSP00000368020:R515C;ENSP00000368009:R518C;ENSP00000405619:R43C;ENSP00000385808:R542C	ENSP00000368009:R518C	R	-	1	0	KIF3A	132066499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC	KIF3A	-	NULL	ENSG00000131437		0.388	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	443	0.45	2	G	NM_007054		132038600	132038600	-1	no_errors	ENST00000378735	ensembl	human	known	69_37n	missense	270	26.43	97	SNP	1.000	A
KIF4A	24137	genome.wustl.edu	37	X	69516985	69516985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:69516985G>T	ENST00000374403.3	+	4	455	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	KIF4A_ENST00000374388.3_Nonsense_Mutation_p.E125*|KIF4A_ENST00000485406.1_3'UTR	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCTCTTCAAAGAAATTGATAA	0.353																																						dbGAP											0													58.0	56.0	57.0					X																	69516985		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.373G>T	X.37:g.69516985G>T	ENSP00000363524:p.Glu125*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E125*	ENST00000374403.3	37	c.373	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.197181	0.94960	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	17.1474	0.86769	0.0:0.0:1.0:0.0	.	.	.	.	X	125	.	ENSP00000363509:E125X	E	+	1	0	KIF4A	69433710	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.429000	0.80309	2.519000	0.84933	0.538000	0.68166	GAA	KIF4A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000090889		0.353	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	271	0.00	0	G	NM_012310		69516985	69516985	+1	no_errors	ENST00000374403	ensembl	human	known	69_37n	nonsense	162	15.62	30	SNP	1.000	T
KIF5C	3800	genome.wustl.edu	37	2	149806436	149806436	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:149806436C>A	ENST00000435030.1	+	9	1166	c.798C>A	c.(796-798)atC>atA	p.I266I	KIF5C_ENST00000397413.1_Silent_p.I34I|KIF5C_ENST00000414838.2_Silent_p.I171I|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	266	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAAATGTGATCTCTGCTTTGG	0.443																																						dbGAP											0													99.0	95.0	96.0					2																	149806436		1904	4119	6023	-	-	-	SO:0001819	synonymous_variant	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.798C>A	2.37:g.149806436C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I266	ENST00000435030.1	37	c.798		2																																																																																			KIF5C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000168280		0.443	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	309	0.00	0	C	NM_004522		149806436	149806436	+1	no_errors	ENST00000435030	ensembl	human	known	69_37n	silent	197	12.44	28	SNP	1.000	A
KIF6	221458	genome.wustl.edu	37	6	39552700	39552700	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:39552700G>A	ENST00000287152.7	-	9	1145	c.1051C>T	c.(1051-1053)Ctt>Ttt	p.L351F	KIF6_ENST00000373216.3_Missense_Mutation_p.L351F|KIF6_ENST00000538893.1_Missense_Mutation_p.L351F|KIF6_ENST00000373213.4_Missense_Mutation_p.L190F|KIF6_ENST00000373215.3_Missense_Mutation_p.L351F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	351					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTTCATTAAGAACAGCTTCA	0.313																																						dbGAP											0													97.0	106.0	103.0					6																	39552700		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1051C>T	6.37:g.39552700G>A	ENSP00000287152:p.Leu351Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L351F	ENST00000287152.7	37	c.1051	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022805	0.75275	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.29	5.29	0.74685	Kinesin, motor domain (2);	.	.	.	.	D	0.83926	0.5360	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.998;1.0	D;D;D;D	0.91635	0.998;0.947;0.974;0.999	D	0.85568	0.1232	9	0.87932	D	0	.	17.0772	0.86589	0.0:0.0:1.0:0.0	.	351;351;351;351	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	F	351;351;190;351;351;138;142	ENSP00000287152:L351F;ENSP00000362312:L351F;ENSP00000362309:L190F;ENSP00000362311:L351F;ENSP00000441435:L351F;ENSP00000404856:L138F	ENSP00000287152:L351F	L	-	1	0	KIF6	39660678	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.941000	0.70195	2.622000	0.88805	0.650000	0.86243	CTT	KIF6	-	smart_Kinesin_motor_dom	ENSG00000164627		0.313	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	158	0.00	0	G	NM_145027		39552700	39552700	-1	no_errors	ENST00000287152	ensembl	human	known	69_37n	missense	104	11.11	13	SNP	1.000	A
KIFC3	3801	genome.wustl.edu	37	16	57794238	57794238	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:57794238G>A	ENST00000379655.4	-	17	2580	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	KIFC3_ENST00000539578.1_Missense_Mutation_p.R717C|KIFC3_ENST00000562903.1_Missense_Mutation_p.R636C|KIFC3_ENST00000541240.1_Missense_Mutation_p.R797C|KIFC3_ENST00000543930.1_Missense_Mutation_p.R633C|KIFC3_ENST00000465878.2_Missense_Mutation_p.R636C|KIFC3_ENST00000445690.2_Missense_Mutation_p.R775C|KIFC3_ENST00000540079.2_Missense_Mutation_p.R673C|KIFC3_ENST00000421376.2_Missense_Mutation_p.R636C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	775					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTGCCCTGCGTAGCCCAGGC	0.617																																						dbGAP											0													80.0	81.0	81.0					16																	57794238		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2323C>T	16.37:g.57794238G>A	ENSP00000368976:p.Arg775Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R775C	ENST00000379655.4	37	c.2323	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275752	0.80580	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.77098	-1.02;-1.01;-0.98;-1.02;-1.0;-1.07;-1.03	5.15	5.15	0.70609	Kinesin, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.975;0.998;0.991	D	0.84984	0.0890	10	0.87932	D	0	.	17.9814	0.89143	0.0:0.0:1.0:0.0	.	797;717;633;673;775;636	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	C	775;775;636;797;673;633;717	ENSP00000368976:R775C;ENSP00000401696:R775C;ENSP00000396399:R636C;ENSP00000442008:R797C;ENSP00000438805:R673C;ENSP00000444012:R633C;ENSP00000444884:R717C	ENSP00000368976:R775C	R	-	1	0	KIFC3	56351739	1.000000	0.71417	0.965000	0.40720	0.825000	0.46686	5.118000	0.64673	2.569000	0.86673	0.455000	0.32223	CGC	KIFC3	-	smart_Kinesin_motor_dom	ENSG00000140859		0.617	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	56	0.00	0	G	NM_005550		57794238	57794238	-1	no_errors	ENST00000379655	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	1.000	A
KIR3DL3	115653	genome.wustl.edu	37	19	55246790	55246790	+	Missense_Mutation	SNP	C	C	A	rs376761152		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55246790C>A	ENST00000291860.1	+	6	1038	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCTCCTCTTCTTTCTCCTTC	0.517																																						dbGAP											0													135.0	109.0	118.0					19																	55246790		1988	3927	5915	-	-	-	SO:0001583	missense	0			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1020C>A	19.37:g.55246790C>A	ENSP00000291860:p.Phe340Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2	p.F340L	ENST00000291860.1	37	c.1020	CCDS12903.1	19	.	.	.	.	.	.	.	.	.	.	N	4.087	0.014155	0.07959	.	.	ENSG00000242019	ENST00000291860	T	0.00466	7.23	0.929	-1.86	0.07760	.	7.537700	0.01155	U	0.006517	T	0.00384	0.0012	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.48703	-0.9012	10	0.72032	D	0.01	.	2.507	0.04647	0.0:0.436:0.3163:0.2476	.	340	Q8N743	KI3L3_HUMAN	L	340	ENSP00000291860:F340L	ENSP00000291860:F340L	F	+	3	2	KIR3DL3	59938602	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.176000	0.09811	-0.622000	0.05626	-1.174000	0.01732	TTC	KIR3DL3	-	NULL	ENSG00000242019		0.517	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIR3DL3	HGNC	protein_coding	OTTHUMT00000141147.1	1146	0.00	0	C	NM_153443		55246790	55246790	+1	no_errors	ENST00000291860	ensembl	human	known	69_37n	missense	480	52.14	524	SNP	0.000	A
KIR3DL1	3811	genome.wustl.edu	37	19	55329841	55329841	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55329841C>T	ENST00000391728.4	+	3	175	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R48W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R48W|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R48W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R48W|KIR3DL1_ENST00000358178.4_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	48	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGTGACTCTTCGGTGTCACTA	0.512																																						dbGAP											0													106.0	105.0	105.0					19																	55329841		2175	4126	6301	-	-	-	SO:0001583	missense	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.142C>T	19.37:g.55329841C>T	ENSP00000375608:p.Arg48Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.R48W	ENST00000391728.4	37	c.142	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	C	3.101	-0.184764	0.06340	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	1.25	-0.0895	0.13668	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.398830	0.01852	U	0.036014	T	0.25680	0.0625	L	0.41492	1.28	0.09310	N	1	D;B	0.67145	0.996;0.006	D;B	0.68039	0.955;0.023	T	0.12066	-1.0562	10	0.87932	D	0	.	4.1241	0.10119	0.4032:0.5967:0.0:0.0	.	48;48	F6QF33;P43629	.;KI3L1_HUMAN	W	48;48;48;26;48;48	ENSP00000384528:R48W;ENSP00000443350:R48W;ENSP00000442355:R48W;ENSP00000375608:R48W;ENSP00000326868:R48W	ENSP00000326868:R48W	R	+	1	2	KIR3DL1	60021653	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.060000	0.11712	0.043000	0.15746	0.184000	0.17185	CGG	KIR3DL1	-	pfam_Immunoglobulin,smart_Ig_sub	ENSG00000167633		0.512	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	429	0.00	0	C	NM_013289		55329841	55329841	+1	no_errors	ENST00000402254	ensembl	human	known	69_37n	missense	320	19.60	78	SNP	0.002	T
KIR3DL1	3811	genome.wustl.edu	37	19	55351098	55351098	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55351098G>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGCTCTTTCCGTGACGCTCCC	0.572																																						dbGAP											0													237.0	211.0	220.0					19																	55351098		2173	4159	6332	-	-	-	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+14565G>A	19.37:g.55351098G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	NULL	p.V196M	ENST00000402254.2	37	c.586		19																																																																																			KIR2DS4	-	NULL	ENSG00000221957		0.572	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	KIR2DS4	HGNC	protein_coding		1011	0.20	2	G	NM_013289		55351098	55351098	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000339924	ensembl	human	known	69_37n	missense	836	10.64	100	SNP	0.004	A
KIT	3815	genome.wustl.edu	37	4	55565921	55565921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:55565921G>T	ENST00000288135.5	+	4	842	c.745G>T	c.(745-747)Gaa>Taa	p.E249*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	249	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGAAAAGAGAAAACAGTCA	0.423		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0													178.0	171.0	173.0					4																	55565921		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.745G>T	4.37:g.55565921G>T	ENSP00000288135:p.Glu249*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E249*	ENST00000288135.5	37	c.745	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027504	0.54683	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	.	.	.	5.55	2.87	0.33458	.	1.055150	0.07411	N	0.892347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	1.3525	0.02176	0.1584:0.2094:0.3654:0.2668	.	.	.	.	X	249	.	ENSP00000288135:E249X	E	+	1	0	KIT	55260678	0.002000	0.14202	0.135000	0.22099	0.002000	0.02628	1.087000	0.30865	0.687000	0.31509	0.557000	0.71058	GAA	KIT	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like	ENSG00000157404		0.423	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	388	0.00	0	G			55565921	55565921	+1	no_errors	ENST00000288135	ensembl	human	known	69_37n	nonsense	274	11.04	34	SNP	0.000	T
KIT	3815	genome.wustl.edu	37	4	55569904	55569904	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:55569904G>T	ENST00000288135.5	+	5	868	c.771G>T	c.(769-771)gaG>gaT	p.E257D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	257	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E257D(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACTACAGGAGAAATATAATA	0.338		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Substitution - Missense(1)	large_intestine(1)											68.0	69.0	69.0					4																	55569904		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.771G>T	4.37:g.55569904G>T	ENSP00000288135:p.Glu257Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E257D	ENST00000288135.5	37	c.771	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.201114	0.01581	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.83591	-1.74;-1.74	5.77	-1.84	0.07809	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.776670	0.02950	N	0.141616	T	0.64000	0.2559	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15870	0.0;0.014	T	0.53774	-0.8391	10	0.12430	T	0.62	.	5.5516	0.17093	0.4517:0.0:0.3717:0.1766	.	257;257	P10721-2;P10721	.;KIT_HUMAN	D	257	ENSP00000288135:E257D;ENSP00000390987:E257D	ENSP00000288135:E257D	E	+	3	2	KIT	55264661	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.230000	0.09083	-0.084000	0.12595	-0.312000	0.09012	GAG	KIT	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Ig-like	ENSG00000157404		0.338	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	97	0.00	0	G			55569904	55569904	+1	no_errors	ENST00000288135	ensembl	human	known	69_37n	missense	94	13.76	15	SNP	0.000	T
KL	9365	genome.wustl.edu	37	13	33638180	33638180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:33638180G>T	ENST00000380099.3	+	5	2904	c.2896G>T	c.(2896-2898)Gaa>Taa	p.E966*	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	966					acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTGTCCAGAAGAATTCACCGT	0.403																																						dbGAP											0													116.0	116.0	116.0					13																	33638180		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2896G>T	13.37:g.33638180G>T	ENSP00000369442:p.Glu966*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Nonsense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E966*	ENST00000380099.3	37	c.2896	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971140	0.92919	.	.	ENSG00000133116	ENST00000380099	.	.	.	5.52	4.68	0.58851	.	0.292942	0.37012	N	0.002297	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-24.9192	14.2574	0.66060	0.0714:0.0:0.9286:0.0	.	.	.	.	X	966	.	ENSP00000369442:E966X	E	+	1	0	KL	32536180	1.000000	0.71417	0.991000	0.47740	0.095000	0.18619	2.553000	0.45837	1.322000	0.45245	0.655000	0.94253	GAA	KL	-	NULL	ENSG00000133116		0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	270	0.37	1	G			33638180	33638180	+1	no_errors	ENST00000380099	ensembl	human	known	69_37n	nonsense	136	27.66	52	SNP	0.894	T
KLF10	7071	genome.wustl.edu	37	8	103664009	103664009	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:103664009G>T	ENST00000285407.6	-	3	851	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	KLF10_ENST00000395884.3_Missense_Mutation_p.S173Y	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	184					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TCTTCTAAAAGAATTGTTCTG	0.458											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)	dbGAP											0													153.0	149.0	150.0					8																	103664009		2203	4300	6503	-	-	-	SO:0001583	missense	0			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.551C>A	8.37:g.103664009G>T	ENSP00000285407:p.Ser184Tyr	Somatic	1375	WXS	Illumina GAIIx	Phase_IV	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S184Y	ENST00000285407.6	37	c.551	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	G	9.852	1.193972	0.22037	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14391	2.51;2.57	6.02	3.92	0.45320	.	0.451574	0.24693	N	0.036368	T	0.16342	0.0393	L	0.54323	1.7	0.09310	N	1	B;P	0.37955	0.412;0.612	B;B	0.41088	0.259;0.347	T	0.09443	-1.0674	10	0.62326	D	0.03	.	9.2867	0.37762	0.1444:0.0:0.7324:0.1232	.	184;173	Q13118;O75411	KLF10_HUMAN;.	Y	184;173	ENSP00000285407:S184Y;ENSP00000379222:S173Y	ENSP00000285407:S184Y	S	-	2	0	KLF10	103733185	0.129000	0.22400	0.168000	0.22838	0.557000	0.35523	1.082000	0.30803	1.554000	0.49487	0.655000	0.94253	TCT	KLF10	-	NULL	ENSG00000155090		0.458	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	120	0.00	0	G			103664009	103664009	-1	no_errors	ENST00000285407	ensembl	human	known	69_37n	missense	66	10.81	8	SNP	0.001	T
KLF7	8609	genome.wustl.edu	37	2	207988594	207988594	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:207988594C>T	ENST00000309446.6	-	2	1013	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.E185K|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.E180K	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	213					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TTCTTGTTTTCGGGACATGCT	0.572																																						dbGAP											0													82.0	83.0	83.0					2																	207988594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.637G>A	2.37:g.207988594C>T	ENSP00000309570:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E213K	ENST00000309446.6	37	c.637	CCDS2373.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452960	0.84209	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000412414	T;T;T	0.05786	3.39;3.41;3.42	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	M	0.65975	2.015	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.49528	0.534;0.614	T	0.15809	-1.0424	10	0.07990	T	0.79	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	185;213	B7Z4F7;O75840	.;KLF7_HUMAN	K	213;180;185	ENSP00000309570:E213K;ENSP00000387510:E180K;ENSP00000403284:E185K	ENSP00000309570:E213K	E	-	1	0	KLF7	207696839	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GAA	KLF7	-	NULL	ENSG00000118263		0.572	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	HGNC	protein_coding	OTTHUMT00000256466.2	99	0.00	0	C	NM_003709		207988594	207988594	-1	no_errors	ENST00000309446	ensembl	human	known	69_37n	missense	62	20.25	16	SNP	1.000	T
KLHL1	57626	genome.wustl.edu	37	13	70549770	70549770	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:70549770C>T	ENST00000377844.4	-	2	1421	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	221	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGGTATCTTTCGGTTCCCAAC	0.403																																						dbGAP											0													158.0	145.0	149.0					13																	70549770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.662G>A	13.37:g.70549770C>T	ENSP00000367075:p.Arg221Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R221Q	ENST00000377844.4	37	c.662	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609823	0.66558	.	.	ENSG00000150361	ENST00000377844	T	0.66638	-0.22	5.98	5.98	0.97165	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.300684	0.28742	N	0.014292	T	0.70482	0.3229	L	0.39020	1.185	0.80722	D	1	D	0.60575	0.988	P	0.54238	0.746	T	0.64672	-0.6352	10	0.27785	T	0.31	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	221	Q9NR64	KLHL1_HUMAN	Q	221	ENSP00000367075:R221Q	ENSP00000367075:R221Q	R	-	2	0	KLHL1	69447771	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.209000	0.58493	2.838000	0.97847	0.591000	0.81541	CGA	KLHL1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000150361		0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	169	0.00	0	C	NM_020866		70549770	70549770	-1	no_errors	ENST00000377844	ensembl	human	known	69_37n	missense	112	13.85	18	SNP	1.000	T
KLHL12	59349	genome.wustl.edu	37	1	202878177	202878177	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:202878177G>A	ENST00000367261.3	-	6	1011	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KLHL12_ENST00000435533.3_Missense_Mutation_p.R303W|KLHL12_ENST00000367259.1_5'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	265					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATCTGACTCCGAAGTTCAGGC	0.488																																						dbGAP											0													122.0	122.0	122.0					1																	202878177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.793C>T	1.37:g.202878177G>A	ENSP00000356230:p.Arg265Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R303W	ENST00000367261.3	37	c.907	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375836	0.82682	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.69926	-0.42;-0.44;-0.36	5.31	4.35	0.52113	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84361	0.5455	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.973	D	0.87465	0.2410	10	0.87932	D	0	.	13.7494	0.62897	0.0:0.0:0.7371:0.2629	.	303;303;265	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	W	265;303;303	ENSP00000356230:R265W;ENSP00000416886:R303W;ENSP00000356227:R303W	ENSP00000356227:R303W	R	-	1	2	KLHL12	201144800	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.587000	0.46128	2.641000	0.89580	0.563000	0.77884	CGG	KLHL12	-	pirsf_Kelch-like_gigaxonin	ENSG00000117153		0.488	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	124	0.00	0	G	NM_021633		202878177	202878177	-1	no_errors	ENST00000435533	ensembl	human	known	69_37n	missense	150	11.76	20	SNP	1.000	A
KLHL13	90293	genome.wustl.edu	37	X	117044002	117044002	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:117044002C>T	ENST00000262820.3	-	5	1537	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	KLHL13_ENST00000371876.1_Missense_Mutation_p.E159K|KLHL13_ENST00000469946.1_Missense_Mutation_p.E159K|KLHL13_ENST00000540167.1_Missense_Mutation_p.E194K|KLHL13_ENST00000545703.1_Missense_Mutation_p.E168K|KLHL13_ENST00000539496.1_Missense_Mutation_p.E213K|KLHL13_ENST00000371878.1_Missense_Mutation_p.E159K|KLHL13_ENST00000541812.1_Missense_Mutation_p.E194K|KLHL13_ENST00000371882.1_Missense_Mutation_p.E159K	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	210	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTATCCACTTCGGTTAGATTG	0.388																																						dbGAP											0													77.0	71.0	73.0					X																	117044002		2195	4291	6486	-	-	-	SO:0001583	missense	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.628G>A	X.37:g.117044002C>T	ENSP00000262820:p.Glu210Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E213K	ENST00000262820.3	37	c.637	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866676	0.51588	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.7	4.7	0.59300	BTB/Kelch-associated (2);	0.109197	0.64402	D	0.000011	T	0.54565	0.1866	L	0.35854	1.095	0.80722	D	1	P;B;B;B	0.40602	0.723;0.33;0.212;0.386	B;B;B;B	0.31495	0.131;0.029;0.056;0.064	T	0.61926	-0.6962	10	0.51188	T	0.08	.	16.8341	0.85952	0.0:1.0:0.0:0.0	.	194;213;204;210	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	K	159;159;159;159;194;194;213;210;168;159	ENSP00000360949:E159K;ENSP00000360943:E159K;ENSP00000360945:E159K;ENSP00000412640:E159K;ENSP00000444450:E194K;ENSP00000441029:E194K;ENSP00000443191:E213K;ENSP00000262820:E210K;ENSP00000440707:E168K;ENSP00000419803:E159K	ENSP00000262820:E210K	E	-	1	0	KLHL13	116928030	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.651000	0.83577	2.150000	0.67090	0.594000	0.82650	GAA	KLHL13	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.388	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		136	0.00	0	C	NM_033495		117044002	117044002	-1	no_errors	ENST00000539496	ensembl	human	known	69_37n	missense	94	18.97	22	SNP	1.000	T
KLHL22	84861	genome.wustl.edu	37	22	20819207	20819207	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:20819207G>A	ENST00000328879.4	-	4	1206	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	KLHL22_ENST00000440659.2_Silent_p.F207F	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	350					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAAGTATACGAAGTTGTTGA	0.552																																						dbGAP											0													100.0	91.0	94.0					22																	20819207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1050C>T	22.37:g.20819207G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F350	ENST00000328879.4	37	c.1050	CCDS13780.1	22																																																																																			KLHL22	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000099910		0.552	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL22	HGNC	protein_coding	OTTHUMT00000320045.2	50	0.00	0	G	NM_032775		20819207	20819207	-1	no_errors	ENST00000328879	ensembl	human	known	69_37n	silent	53	13.11	8	SNP	0.886	A
KLHL24	54800	genome.wustl.edu	37	3	183368322	183368322	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:183368322C>T	ENST00000454652.2	+	4	564	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C|KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	60						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R60C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											121.0	118.0	119.0					3																	183368322		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.178C>T	3.37:g.183368322C>T	ENSP00000395012:p.Arg60Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R60C	ENST00000454652.2	37	c.178	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309684	0.81247	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.44	5.44	0.79542	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.89384	0.3684	10	0.87932	D	0	.	19.2708	0.94008	0.0:1.0:0.0:0.0	.	60;60	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	C	60	ENSP00000242810:R60C;ENSP00000417347:R60C;ENSP00000416836:R60C;ENSP00000419120:R60C;ENSP00000420207:R60C;ENSP00000408567:R60C;ENSP00000417275:R60C;ENSP00000395012:R60C;ENSP00000418922:R60C;ENSP00000419010:R60C	ENSP00000242810:R60C	R	+	1	0	KLHL24	184851016	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.583000	0.60964	2.560000	0.86352	0.460000	0.39030	CGT	KLHL24	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.413	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	222	0.89	2	C	NM_017644		183368322	183368322	+1	no_errors	ENST00000242810	ensembl	human	known	69_37n	missense	157	33.05	78	SNP	1.000	T
KLHL31	401265	genome.wustl.edu	37	6	53519444	53519444	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:53519444C>A	ENST00000407079.1	-	1	626	c.627G>T	c.(625-627)atG>atT	p.M209I	KLHL31_ENST00000370905.3_Missense_Mutation_p.M209I			Q9H511	KLH31_HUMAN	kelch-like family member 31	209	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATGTAAGTTTCATAAACTGAT	0.333																																						dbGAP											0													78.0	79.0	79.0					6																	53519444		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.627G>T	6.37:g.53519444C>A	ENSP00000384644:p.Met209Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N9J2|B2RP49	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M209I	ENST00000407079.1	37	c.627	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567027	0.28003	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.68025	-0.3;-0.3	6.03	4.17	0.49024	BTB/Kelch-associated (2);	0.099958	0.64402	D	0.000002	T	0.28234	0.0697	N	0.12961	0.28	0.32774	N	0.503367	B	0.14805	0.011	B	0.15870	0.014	T	0.12192	-1.0557	10	0.49607	T	0.09	.	5.1976	0.15246	0.0:0.6092:0.195:0.1957	.	209	Q9H511	KLH31_HUMAN	I	209	ENSP00000359942:M209I;ENSP00000384644:M209I	ENSP00000359942:M209I	M	-	3	0	KLHL31	53627403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.563000	0.36364	2.868000	0.98415	0.555000	0.69702	ATG	KLHL31	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.333	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	129	0.00	0	C	NM_001003760		53519444	53519444	-1	no_errors	ENST00000370905	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	1.000	A
KLHL31	401265	genome.wustl.edu	37	6	53519578	53519578	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:53519578G>A	ENST00000407079.1	-	1	492	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	KLHL31_ENST00000370905.3_Missense_Mutation_p.R165W			Q9H511	KLH31_HUMAN	kelch-like family member 31	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R165W(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CTCATCTCCCGTATCAGAAAA	0.368																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											71.0	74.0	73.0					6																	53519578		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.493C>T	6.37:g.53519578G>A	ENSP00000384644:p.Arg165Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N9J2|B2RP49	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R165W	ENST00000407079.1	37	c.493	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371113	0.61624	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.23754	1.89;1.89	6.03	5.15	0.70609	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.314020	0.36002	N	0.002841	T	0.28665	0.0710	M	0.64404	1.975	0.46437	D	0.999044	D	0.61697	0.99	P	0.51101	0.659	T	0.12656	-1.0539	10	0.87932	D	0	.	16.7139	0.85393	0.0:0.0:0.8695:0.1305	.	165	Q9H511	KLH31_HUMAN	W	165	ENSP00000359942:R165W;ENSP00000384644:R165W	ENSP00000359942:R165W	R	-	1	2	KLHL31	53627537	1.000000	0.71417	0.685000	0.30070	0.964000	0.63967	5.593000	0.67550	1.543000	0.49345	-0.324000	0.08512	CGG	KLHL31	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.368	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	95	0.00	0	G	NM_001003760		53519578	53519578	-1	no_errors	ENST00000370905	ensembl	human	known	69_37n	missense	66	35.58	37	SNP	1.000	A
KLHL4	56062	genome.wustl.edu	37	X	86877241	86877241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:86877241G>T	ENST00000373119.4	+	5	1100	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.E319*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	319						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAAAAACCAAGAATTCCTCCT	0.343																																						dbGAP											0													71.0	63.0	65.0					X																	86877241		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.955G>T	X.37:g.86877241G>T	ENSP00000362211:p.Glu319*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.E319*	ENST00000373119.4	37	c.955	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	38	6.904338	0.97924	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2028	0.86910	0.0:0.0:1.0:0.0	.	.	.	.	X	319	.	ENSP00000362206:E319X	E	+	1	0	KLHL4	86763897	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.218000	0.95166	2.273000	0.75805	0.513000	0.50165	GAA	KLHL4	-	pfam_BACK,smart_BACK	ENSG00000102271		0.343	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	223	0.00	0	G			86877241	86877241	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	nonsense	120	12.41	17	SNP	1.000	T
KLHL5	51088	genome.wustl.edu	37	4	39083600	39083600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:39083600G>T	ENST00000504108.1	+	4	1142	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	KLHL5_ENST00000359687.2_Nonsense_Mutation_p.E287*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.E287*|KLHL5_ENST00000261426.5_Nonsense_Mutation_p.E226*|KLHL5_ENST00000261425.3_Nonsense_Mutation_p.E241*|KLHL5_ENST00000508137.2_Nonsense_Mutation_p.E100*	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	287	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGAATTAAAAGAAGATAATAT	0.333																																						dbGAP											0													85.0	81.0	82.0					4																	39083600		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.859G>T	4.37:g.39083600G>T	ENSP00000423897:p.Glu287*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.E287*	ENST00000504108.1	37	c.859	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.648499	0.98409	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6602	0.95864	0.0:0.0:1.0:0.0	.	.	.	.	X	321;241;100;287;287;287;226	.	ENSP00000261425:E241X	E	+	1	0	KLHL5	38759995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.729000	0.93468	0.460000	0.39030	GAA	KLHL5	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000109790		0.333	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	HGNC	protein_coding	OTTHUMT00000360604.1	286	0.00	0	G			39083600	39083600	+1	no_errors	ENST00000359687	ensembl	human	known	69_37n	nonsense	156	22.77	46	SNP	1.000	T
KLHL8	57563	genome.wustl.edu	37	4	88099661	88099661	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:88099661C>T	ENST00000273963.5	-	5	1405	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	KLHL8_ENST00000425278.2_Missense_Mutation_p.R172Q|KLHL8_ENST00000512111.1_Missense_Mutation_p.R355Q|KLHL8_ENST00000498875.2_Missense_Mutation_p.R279Q|KLHL8_ENST00000545252.1_Missense_Mutation_p.R4Q	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	355					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATGTCGCCTTCGACTATTCAT	0.413																																						dbGAP											0													174.0	162.0	166.0					4																	88099661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1064G>A	4.37:g.88099661C>T	ENSP00000273963:p.Arg355Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R355Q	ENST00000273963.5	37	c.1064	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.469214	0.96274	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.67	5.67	0.87782	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	L	0.27944	0.81	0.80722	D	1	D;P;P	0.71674	0.998;0.934;0.938	P;B;B	0.57468	0.821;0.302;0.418	T	0.82261	-0.0545	10	0.72032	D	0.01	.	19.7635	0.96333	0.0:1.0:0.0:0.0	.	172;279;355	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	Q	355;279;172;4;355	ENSP00000273963:R355Q;ENSP00000426451:R279Q;ENSP00000408854:R172Q;ENSP00000439514:R4Q;ENSP00000424131:R355Q	ENSP00000273963:R355Q	R	-	2	0	KLHL8	88318685	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	7.639000	0.83342	2.669000	0.90835	0.655000	0.94253	CGA	KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.413	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1	253	0.00	0	C			88099661	88099661	-1	no_errors	ENST00000273963	ensembl	human	known	69_37n	missense	163	13.68	26	SNP	1.000	T
KLHL9	55958	genome.wustl.edu	37	9	21334138	21334138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:21334138G>A	ENST00000359039.4	-	1	1241	c.721C>T	c.(721-723)Cga>Tga	p.R241*	KLHL9_ENST00000537938.1_Nonsense_Mutation_p.R173*			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	241	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGTGGAAATCGAATATTCTTC	0.433																																						dbGAP											0													120.0	114.0	116.0					9																	21334138		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.721C>T	9.37:g.21334138G>A	ENSP00000351933:p.Arg241*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCQ2	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R241*	ENST00000359039.4	37	c.721	CCDS6503.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.363035	0.97507	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9779	0.86319	0.0:0.0:1.0:0.0	.	.	.	.	X	241;173	.	ENSP00000351933:R241X	R	-	1	2	KLHL9	21324138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.869000	0.63028	2.688000	0.91661	0.650000	0.86243	CGA	KLHL9	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.433	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	147	0.00	0	G	NM_018847		21334138	21334138	-1	no_errors	ENST00000359039	ensembl	human	known	69_37n	nonsense	63	19.23	15	SNP	1.000	A
KLHL9	55958	genome.wustl.edu	37	9	21334225	21334225	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:21334225C>T	ENST00000359039.4	-	1	1154	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	KLHL9_ENST00000537938.1_Missense_Mutation_p.E144K			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	212	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.E212K(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AGTTCAAGTTCGGTACAGTGC	0.418																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											71.0	72.0	72.0					9																	21334225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.634G>A	9.37:g.21334225C>T	ENSP00000351933:p.Glu212Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCQ2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E212K	ENST00000359039.4	37	c.634	CCDS6503.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315805	0.81469	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	D;D	0.93547	-3.24;-3.24	5.37	5.37	0.77165	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.97586	0.9209	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	10	0.87932	D	0	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	212	Q9P2J3	KLHL9_HUMAN	K	212;144	ENSP00000351933:E212K;ENSP00000437733:E144K	ENSP00000351933:E212K	E	-	1	0	KLHL9	21324225	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.739000	0.84976	2.688000	0.91661	0.650000	0.86243	GAA	KLHL9	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.418	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	75	0.00	0	C	NM_018847		21334225	21334225	-1	no_errors	ENST00000359039	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	T
KLHL9	55958	genome.wustl.edu	37	9	21334269	21334269	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:21334269C>T	ENST00000359039.4	-	1	1110	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	KLHL9_ENST00000537938.1_Missense_Mutation_p.R129Q			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	197	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAATGCAAGTCGTTCAAAAGG	0.398																																						dbGAP											0													56.0	59.0	58.0					9																	21334269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.590G>A	9.37:g.21334269C>T	ENSP00000351933:p.Arg197Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCQ2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R197Q	ENST00000359039.4	37	c.590	CCDS6503.1	9	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179005	0.57692	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.66995	-0.24;-0.24	5.37	5.37	0.77165	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	N	0.16307	0.4	0.80722	D	1	D	0.57571	0.98	P	0.52856	0.711	T	0.54655	-0.8261	10	0.02654	T	1	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	197	Q9P2J3	KLHL9_HUMAN	Q	197;129	ENSP00000351933:R197Q;ENSP00000437733:R129Q	ENSP00000351933:R197Q	R	-	2	0	KLHL9	21324269	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	7.739000	0.84976	2.688000	0.91661	0.650000	0.86243	CGA	KLHL9	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.398	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	67	0.00	0	C	NM_018847		21334269	21334269	-1	no_errors	ENST00000359039	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	1.000	T
KLK3	354	genome.wustl.edu	37	19	51361469	51361469	+	Missense_Mutation	SNP	G	G	A	rs182759459		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:51361469G>A	ENST00000326003.2	+	3	432	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KLK3_ENST00000593997.1_Missense_Mutation_p.E131K|KLK3_ENST00000597483.1_Missense_Mutation_p.E88K|KLK3_ENST00000360617.3_Missense_Mutation_p.E131K|KLK3_ENST00000595952.1_Missense_Mutation_p.E88K	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	131	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AGAGCCTGCCGAGCTCACGGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		19580	0.0		0.001	False		,,,				2504	0.0				Colon(185;1767 2023 13025 30120 37630)	dbGAP											0													73.0	63.0	66.0					19																	51361469		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.391G>A	19.37:g.51361469G>A	ENSP00000314151:p.Glu131Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E131K	ENST00000326003.2	37	c.391	CCDS12807.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.610	-0.825621	0.02734	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617	D;D	0.88201	-2.35;-2.35	2.31	-4.63	0.03359	.	1.440100	0.04763	N	0.426598	T	0.67841	0.2936	N	0.05177	-0.1	0.09310	N	1	B;B	0.21452	0.056;0.003	B;B	0.10450	0.005;0.002	T	0.64748	-0.6334	10	0.02654	T	1	.	1.6579	0.02785	0.4732:0.1812:0.2301:0.1154	.	131;88	G3XAE3;G3V0H4	.;.	K	131;88;131	ENSP00000314151:E131K;ENSP00000353829:E131K	ENSP00000314151:E131K	E	+	1	0	KLK3	56053281	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.806000	0.00183	-1.989000	0.00979	-0.438000	0.05819	GAG	KLK3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000142515		0.612	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	152	0.00	0	G	NM_145864		51361469	51361469	+1	no_errors	ENST00000326003	ensembl	human	known	69_37n	missense	99	29.79	42	SNP	0.000	A
KLK5	25818	genome.wustl.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:51452217G>A	ENST00000336334.3	-	4	842	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_ENST00000391809.2_Missense_Mutation_p.R164C|KLK5_ENST00000593428.1_Missense_Mutation_p.R164C|CTB-147C22.8_ENST00000601506.1_RNA|CTB-147C22.8_ENST00000594939.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R164C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											105.0	104.0	104.0					19																	51452217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.490C>T	19.37:g.51452217G>A	ENSP00000337733:p.Arg164Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R164C	ENST00000336334.3	37	c.490	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	g	9.730	1.161911	0.21538	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.89343	-2.5;-2.5	4.34	-4.16	0.03869	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.850672	0.09600	U	0.780305	T	0.81640	0.4865	M	0.76170	2.325	0.09310	N	1	P	0.39181	0.663	B	0.32677	0.15	T	0.71056	-0.4703	10	0.49607	T	0.09	.	0.1468	0.00089	0.3034:0.1491:0.2448:0.3027	.	164	Q9Y337	KLK5_HUMAN	C	164	ENSP00000337733:R164C;ENSP00000375685:R164C	ENSP00000337733:R164C	R	-	1	0	KLK5	56144029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.476000	0.06842	-0.182000	0.12963	CGT	KLK5	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167754		0.547	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1	76	0.00	0	G	NM_012427		51452217	51452217	-1	no_errors	ENST00000336334	ensembl	human	known	69_37n	missense	63	23.81	20	SNP	0.000	A
KLK13	26085	genome.wustl.edu	37	19	51563286	51563286	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:51563286C>T	ENST00000595793.1	-	3	346	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	KLK13_ENST00000596955.1_Missense_Mutation_p.E102K|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGGACAACTTCCCTCACCTGC	0.572																																						dbGAP											0													89.0	88.0	89.0					19																	51563286		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.304G>A	19.37:g.51563286C>T	ENSP00000470555:p.Glu102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E102K	ENST00000595793.1	37	c.304	CCDS12822.1	19	.	.	.	.	.	.	.	.	.	.	C	1.765	-0.485743	0.04352	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	2.72	0.32119	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.433310	0.19618	N	0.109972	T	0.29256	0.0728	N	0.17278	0.47	0.80722	D	1	B;B	0.18310	0.027;0.013	B;B	0.15052	0.012;0.012	T	0.08848	-1.0702	9	0.15499	T	0.54	.	6.4624	0.21964	0.0:0.8675:0.0:0.1325	.	102;102	B5BUM9;Q9UKR3	.;KLK13_HUMAN	K	102	.	ENSP00000156476:E102K	E	-	1	0	KLK13	56255098	0.000000	0.05858	0.999000	0.59377	0.091000	0.18340	0.029000	0.13666	2.111000	0.64477	0.650000	0.86243	GAA	KLK13	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167759		0.572	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	HGNC	protein_coding	OTTHUMT00000464298.2	270	0.00	0	C	NM_015596		51563286	51563286	-1	no_errors	ENST00000156476	ensembl	human	known	69_37n	missense	215	14.62	37	SNP	0.949	T
KLKB1	3818	genome.wustl.edu	37	4	187172699	187172699	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:187172699G>T	ENST00000264690.6	+	9	1114	c.927G>T	c.(925-927)gtG>gtT	p.V309V	KLKB1_ENST00000513864.1_Silent_p.V309V	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	309	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AATTGAATGTGACTTTTGTTA	0.378																																						dbGAP											0													103.0	109.0	107.0					4																	187172699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.927G>T	4.37:g.187172699G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonstop_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Cyt_P450,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Cyt_P450,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.*357L	ENST00000264690.6	37	c.1070	CCDS34120.1	4	.	.	.	.	.	.	.	.	.	.	g	0.100	-1.153054	0.01700	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.27	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4936	0.22130	0.0783:0.1354:0.6624:0.1239	.	.	.	.	L	357	.	.	X	+	2	2	KLKB1	187409693	0.000000	0.05858	0.473000	0.27253	0.069000	0.16628	0.069000	0.14552	1.352000	0.45808	0.645000	0.84053	TGA	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app	ENSG00000164344		0.378	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	323	0.31	1	G	NM_000892		187172699	187172699	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511608	ensembl	human	putative	69_37n	nonstop	136	13.38	21	SNP	0.004	T
KLKB1	3818	genome.wustl.edu	37	4	187172904	187172904	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:187172904T>C	ENST00000264690.6	+	10	1220	c.1033T>C	c.(1033-1035)Tgt>Cgt	p.C345R	KLKB1_ENST00000513864.1_Splice_Site_p.C345R	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	345	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTCATCTAGGTGTAAGTGTTT	0.383																																						dbGAP											0													129.0	131.0	131.0					4																	187172904		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1032-1T>C	4.37:g.187172904T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A	p.C345R	ENST00000264690.6	37	c.1033	CCDS34120.1	4	.	.	.	.	.	.	.	.	.	.	t	15.83	2.949693	0.53186	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.88046	-2.33;-2.33	5.29	5.29	0.74685	Apple domain (2);PAN-1 domain (1);Apple-like (1);	0.000000	0.85682	D	0.000000	D	0.92368	0.7578	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.981;0.985	D	0.91951	0.5571	10	0.40728	T	0.16	.	15.541	0.76048	0.0:0.0:0.0:1.0	.	307;345;345	E7EQA8;A8K9A9;P03952	.;.;KLKB1_HUMAN	R	345;345;307	ENSP00000264690:C345R;ENSP00000424469:C345R	ENSP00000264690:C345R	C	+	1	0	KLKB1	187409898	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	4.268000	0.58883	2.127000	0.65507	0.524000	0.50904	TGT	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app	ENSG00000164344		0.383	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	303	0.33	1	T	NM_000892	Missense_Mutation	187172904	187172904	+1	no_errors	ENST00000264690	ensembl	human	known	69_37n	missense	128	13.42	20	SNP	1.000	C
KLRC1	3821	genome.wustl.edu	37	12	10603094	10603094	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:10603094A>G	ENST00000359151.3	-	3	453	c.272T>C	c.(271-273)gTt>gCt	p.V91A	KLRC1_ENST00000408006.3_Missense_Mutation_p.V91A|KLRC1_ENST00000544822.1_Missense_Mutation_p.V91A|KLRC1_ENST00000347831.5_Missense_Mutation_p.V91A|KLRC1_ENST00000536188.1_Missense_Mutation_p.V91A	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	91					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GGGAATAACAACTATCGTTAC	0.383																																						dbGAP											0													111.0	109.0	110.0					12																	10603094		2203	4300	6503	-	-	-	SO:0001583	missense	0			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.272T>C	12.37:g.10603094A>G	ENSP00000352064:p.Val91Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.V91A	ENST00000359151.3	37	c.272	CCDS8625.1	12	.	.	.	.	.	.	.	.	.	.	A	6.346	0.431898	0.12045	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	3.31	-0.519	0.11939	C-type lectin fold (1);	1.595900	0.03493	N	0.216886	T	0.06508	0.0167	L	0.33189	0.99	0.09310	N	1	B;B	0.18166	0.026;0.002	B;B	0.25291	0.059;0.012	T	0.42155	-0.9468	10	0.35671	T	0.21	.	5.7897	0.18353	0.5239:0.0:0.4761:0.0	.	91;91	P26715-2;P26715	.;NKG2A_HUMAN	A	91	ENSP00000441432:V91A;ENSP00000352064:V91A;ENSP00000385304:V91A;ENSP00000256965:V91A;ENSP00000438038:V91A	ENSP00000256965:V91A	V	-	2	0	KLRC1	10494361	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.725000	0.04942	0.025000	0.15241	0.383000	0.25322	GTT	KLRC1	-	pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold	ENSG00000134545		0.383	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	152	0.00	0	A	NM_002259		10603094	10603094	-1	no_errors	ENST00000359151	ensembl	human	known	69_37n	missense	68	20.00	17	SNP	0.001	G
KMO	8564	genome.wustl.edu	37	1	241714340	241714340	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:241714340C>A	ENST00000366559.4	+	4	619	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	KMO_ENST00000366557.4_Missense_Mutation_p.S103Y|KMO_ENST00000366558.3_Missense_Mutation_p.S103Y|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.S103Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGGACAAAGTCTCAGGTAGGT	0.443																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											133.0	131.0	132.0					1																	241714340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.308C>A	1.37:g.241714340C>A	ENSP00000355517:p.Ser103Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.S103Y	ENST00000366559.4	37	c.308	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133647	0.37630	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.50277	0.75;0.75;0.75	6.17	4.14	0.48551	Monooxygenase, FAD-binding (1);	0.260739	0.43747	D	0.000524	T	0.44850	0.1313	M	0.61703	1.905	0.23030	N	0.998402	P;P;P	0.38250	0.539;0.539;0.624	B;B;B	0.39465	0.3;0.3;0.198	T	0.48479	-0.9032	10	0.72032	D	0.01	.	8.0606	0.30631	0.2227:0.6308:0.1465:0.0	.	103;103;103	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	Y	103	ENSP00000355517:S103Y;ENSP00000355516:S103Y;ENSP00000355515:S103Y	ENSP00000355515:S103Y	S	+	2	0	KMO	239780963	0.540000	0.26410	0.966000	0.40874	0.564000	0.35744	1.443000	0.35057	1.587000	0.49959	0.655000	0.94253	TCT	KMO	-	pfam_mOase_FAD-bd	ENSG00000117009		0.443	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	358	0.00	0	C	NM_003679		241714340	241714340	+1	no_errors	ENST00000366559	ensembl	human	known	69_37n	missense	278	12.03	38	SNP	0.476	A
KNDC1	85442	genome.wustl.edu	37	10	135020395	135020395	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:135020395G>T	ENST00000304613.3	+	19	3538	c.3517G>T	c.(3517-3519)Ggg>Tgg	p.G1173W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1175W|KNDC1_ENST00000368571.2_Missense_Mutation_p.G1108W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1173					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGCTGAAAGGGCAGCTAGA	0.617																																						dbGAP											0													114.0	118.0	117.0					10																	135020395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3517G>T	10.37:g.135020395G>T	ENSP00000304437:p.Gly1173Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G1175W	ENST00000304613.3	37	c.3523	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782341	0.31502	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20598	2.57;2.57;2.06	4.45	4.45	0.53987	.	0.346997	0.25408	U	0.030899	T	0.43964	0.1271	M	0.64997	1.995	0.38677	D	0.952439	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.947	T	0.49995	-0.8879	10	0.87932	D	0	-37.4937	14.9375	0.70967	0.0:0.0:1.0:0.0	.	1108;1173	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	W	1173;1175;1108	ENSP00000304437:G1173W;ENSP00000357561:G1175W;ENSP00000357560:G1108W	ENSP00000304437:G1173W	G	+	1	0	KNDC1	134870385	0.996000	0.38824	0.746000	0.31095	0.008000	0.06430	2.533000	0.45667	2.192000	0.70111	0.537000	0.68136	GGG	KNDC1	-	NULL	ENSG00000171798		0.617	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	69	0.00	0	G	NM_152643		135020395	135020395	+1	no_errors	ENST00000368572	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	0.993	T
KNTC1	9735	genome.wustl.edu	37	12	123060400	123060400	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:123060400G>A	ENST00000333479.7	+	29	2717	c.2540G>A	c.(2539-2541)cGa>cAa	p.R847Q	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	847					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAACTTTTACGAGGCTATGGA	0.323																																						dbGAP											0													74.0	69.0	71.0					12																	123060400		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2540G>A	12.37:g.123060400G>A	ENSP00000328236:p.Arg847Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.R847Q	ENST00000333479.7	37	c.2540	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.494193	0.96339	.	.	ENSG00000184445	ENST00000333479	T	0.15017	2.46	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04621	-1.0938	10	0.51188	T	0.08	-10.3081	19.2458	0.93902	0.0:0.0:1.0:0.0	.	847	P50748	KNTC1_HUMAN	Q	847	ENSP00000328236:R847Q	ENSP00000328236:R847Q	R	+	2	0	KNTC1	121626353	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.500000	0.97977	2.783000	0.95769	0.655000	0.94253	CGA	KNTC1	-	NULL	ENSG00000184445		0.323	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	147	0.00	0	G			123060400	123060400	+1	no_errors	ENST00000333479	ensembl	human	known	69_37n	missense	99	13.91	16	SNP	1.000	A
KNTC1	9735	genome.wustl.edu	37	12	123061576	123061576	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:123061576G>A	ENST00000333479.7	+	30	2898	c.2721G>A	c.(2719-2721)caG>caA	p.Q907Q	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	907					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATAGAGAACAGGTTTGTAAGT	0.383																																						dbGAP											0													145.0	137.0	140.0					12																	123061576		1888	4094	5982	-	-	-	SO:0001630	splice_region_variant	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.2721+1G>A	12.37:g.123061576G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C4|B3KSG2	Silent	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.Q907	ENST00000333479.7	37	c.2721	CCDS45002.1	12																																																																																			KNTC1	-	NULL	ENSG00000184445		0.383	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	308	0.32	1	G		Silent	123061576	123061576	+1	no_errors	ENST00000333479	ensembl	human	known	69_37n	silent	198	28.78	80	SNP	1.000	A
KPNA6	23633	genome.wustl.edu	37	1	32620199	32620199	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:32620199G>A	ENST00000373625.3	+	2	108	c.15G>A	c.(13-15)gcG>gcA	p.A5A	KPNA6_ENST00000537234.1_Silent_p.A2A|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Silent_p.A10A	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	5	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGACCATGGCGAGCCCAGGGA	0.453																																						dbGAP											0													68.0	66.0	66.0					1																	32620199		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.15G>A	1.37:g.32620199G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC7|D3DPP5|Q5VVU3	Silent	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.A10	ENST00000373625.3	37	c.30	CCDS352.1	1																																																																																			KPNA6	-	pfscan_Importin-a_IBB	ENSG00000025800		0.453	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	HGNC	protein_coding	OTTHUMT00000012527.4	176	0.00	0	G	NM_012316		32620199	32620199	+1	no_errors	ENST00000545542	ensembl	human	known	69_37n	silent	140	14.11	23	SNP	0.974	A
KPNA6	23633	genome.wustl.edu	37	1	32620312	32620312	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:32620312G>A	ENST00000373625.3	+	2	221	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	KPNA6_ENST00000537234.1_Missense_Mutation_p.R40Q|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.R48Q	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	43	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGCAGAAGCGAGAGCAACAA	0.463																																						dbGAP											0													76.0	71.0	73.0					1																	32620312		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.128G>A	1.37:g.32620312G>A	ENSP00000362728:p.Arg43Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.R48Q	ENST00000373625.3	37	c.143	CCDS352.1	1	.	.	.	.	.	.	.	.	.	.	g	22.6	4.306522	0.81247	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542	T;T;T	0.59364	0.27;0.27;0.27	5.6	5.6	0.85130	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.941	D	0.86649	0.1897	10	0.87932	D	0	-11.5435	20.0086	0.97443	0.0:0.0:1.0:0.0	.	48;43	F5GYL8;O60684	.;IMA7_HUMAN	Q	43;17;40;48	ENSP00000362728:R43Q;ENSP00000444930:R40Q;ENSP00000440609:R48Q	ENSP00000362719:R17Q	R	+	2	0	KPNA6	32392899	1.000000	0.71417	0.971000	0.41717	0.001000	0.01503	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	CGA	KPNA6	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB	ENSG00000025800		0.463	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	HGNC	protein_coding	OTTHUMT00000012527.4	226	0.00	0	G	NM_012316		32620312	32620312	+1	no_errors	ENST00000545542	ensembl	human	known	69_37n	missense	169	17.56	36	SNP	1.000	A
KPNA7	402569	genome.wustl.edu	37	7	98775622	98775622	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:98775622C>A	ENST00000327442.6	-	9	1424	c.1385G>T	c.(1384-1386)aGa>aTa	p.R462I		NM_001145715.1	NP_001139187.1	A9QM74	IMA8_HUMAN	karyopherin alpha 7 (importin alpha 8)	462					cytokine-mediated signaling pathway (GO:0019221)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						AGCCTCAATTCTATCGATCCC	0.498																																						dbGAP											0													203.0	163.0	175.0					7																	98775622		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47651.1	7q22.1	2013-02-14			ENSG00000185467	ENSG00000185467		"""Importins"", ""Armadillo repeat containing"""	21839	protein-coding gene	gene with protein product		614107					Standard	NM_001145715		Approved		uc010lft.2	A9QM74	OTTHUMG00000154412	ENST00000327442.6:c.1385G>T	7.37:g.98775622C>A	ENSP00000330878:p.Arg462Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D277	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.R462I	ENST00000327442.6	37	c.1385	CCDS47651.1	7	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774772	0.49786	.	.	ENSG00000185467	ENST00000327442	T	0.30448	1.53	4.26	-0.427	0.12310	Armadillo-like helical (1);Armadillo-type fold (1);	0.383955	0.29473	N	0.012051	T	0.40570	0.1122	M	0.76170	2.325	0.41356	D	0.987397	P	0.48998	0.918	P	0.50896	0.653	T	0.41088	-0.9528	10	0.87932	D	0	-4.9889	10.6006	0.45365	0.0:0.1147:0.0:0.8853	.	462	A9QM74	IMA8_HUMAN	I	462	ENSP00000330878:R462I	ENSP00000330878:R462I	R	-	2	0	KPNA7	98613558	0.070000	0.21116	0.243000	0.24186	0.540000	0.34992	-0.228000	0.09114	-0.308000	0.08792	0.455000	0.32223	AGA	KPNA7	-	superfamily_ARM-type_fold	ENSG00000185467		0.498	KPNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA7	HGNC	protein_coding	OTTHUMT00000335118.1	605	0.00	0	C	NM_001145715		98775622	98775622	-1	no_errors	ENST00000327442	ensembl	human	known	69_37n	missense	373	31.93	175	SNP	0.721	A
KRAS	3845	genome.wustl.edu	37	12	25380184	25380184	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:25380184C>A	ENST00000256078.4	-	3	337	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	KRAS_ENST00000311936.3_Missense_Mutation_p.D92Y|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	92					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.D92Y(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGGTGAATATCTTCAAATGAT	0.348		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	1	Substitution - Missense(1)	large_intestine(1)											75.0	74.0	75.0					12																	25380184		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.274G>T	12.37:g.25380184C>A	ENSP00000256078:p.Asp92Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D92Y	ENST00000256078.4	37	c.274	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453750	0.84209	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	T;T	0.77229	-1.08;-1.08	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.042564	0.85682	D	0.000000	D	0.87454	0.6181	M	0.66939	2.045	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.70935	0.971;0.971	D	0.87585	0.2487	10	0.87932	D	0	.	19.3504	0.94381	0.0:1.0:0.0:0.0	.	92;92	P01116-2;P01116	.;RASK_HUMAN	Y	92	ENSP00000308495:D92Y;ENSP00000256078:D92Y	ENSP00000256078:D92Y	D	-	1	0	KRAS	25271451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.763000	0.85283	2.885000	0.99019	0.655000	0.94253	GAT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	136	0.00	0	C	NM_033360		25380184	25380184	-1	no_errors	ENST00000256078	ensembl	human	known	69_37n	missense	82	18.81	19	SNP	1.000	A
KRIT1	889	genome.wustl.edu	37	7	91852270	91852270	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:91852270C>A	ENST00000340022.2	-	13	2295	c.1277G>T	c.(1276-1278)aGa>aTa	p.R426I	KRIT1_ENST00000394505.2_Missense_Mutation_p.R426I|KRIT1_ENST00000394507.1_Missense_Mutation_p.R426I|KRIT1_ENST00000394503.2_Missense_Mutation_p.R378I|KRIT1_ENST00000412043.2_Missense_Mutation_p.R426I	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	426	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCCATCCATTCTGTATATTCG	0.348																																						dbGAP											0													106.0	93.0	97.0					7																	91852270		2203	4298	6501	-	-	-	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1277G>T	7.37:g.91852270C>A	ENSP00000344668:p.Arg426Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.R426I	ENST00000340022.2	37	c.1277	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511806	0.85389	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;T	0.70749	0.91;0.91;0.91;0.91;-0.51	5.26	4.37	0.52481	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	L	0.44542	1.39	0.80722	D	1	D;P;D	0.67145	0.996;0.92;0.996	D;P;D	0.71656	0.974;0.468;0.974	T	0.73563	-0.3943	10	0.32370	T	0.25	4.0343	13.2581	0.60091	0.0:0.9235:0.0:0.0765	.	426;378;426	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	I	426;426;426;426;378;426	ENSP00000378015:R426I;ENSP00000344668:R426I;ENSP00000410909:R426I;ENSP00000378013:R426I;ENSP00000378011:R378I	ENSP00000344668:R426I	R	-	2	0	KRIT1	91690206	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.014000	0.70784	2.448000	0.82819	0.460000	0.39030	AGA	KRIT1	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000001631		0.348	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	99	0.00	0	C			91852270	91852270	-1	no_errors	ENST00000340022	ensembl	human	known	69_37n	missense	97	12.61	14	SNP	1.000	A
KRT1	3848	genome.wustl.edu	37	12	53072381	53072381	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:53072381G>A	ENST00000252244.3	-	2	809	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	251	Coil 1B.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GAATCCAACCGAGATTGATCA	0.453																																						dbGAP											0													180.0	161.0	168.0					12																	53072381		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.751C>T	12.37:g.53072381G>A	ENSP00000252244:p.Arg251Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R251W	ENST00000252244.3	37	c.751	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453309	0.63290	.	.	ENSG00000167768	ENST00000252244	T	0.75704	-0.96	4.98	4.08	0.47627	Filament (1);	.	.	.	.	D	0.90563	0.7042	H	0.98218	4.175	0.35337	D	0.786182	D	0.89917	1.0	D	0.85130	0.997	D	0.95058	0.8193	9	0.87932	D	0	.	12.1267	0.53920	0.0:0.1299:0.7352:0.1349	.	251	P04264	K2C1_HUMAN	W	251	ENSP00000252244:R251W	ENSP00000252244:R251W	R	-	1	2	KRT1	51358648	0.000000	0.05858	0.749000	0.31150	0.014000	0.08584	0.496000	0.22499	1.226000	0.43582	-0.169000	0.13324	CGG	KRT1	-	pfam_F	ENSG00000167768		0.453	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	260	0.00	0	G	NM_006121		53072381	53072381	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	missense	222	13.95	36	SNP	0.951	A
KRT10	3858	genome.wustl.edu	37	17	38978345	38978345	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:38978345G>A	ENST00000269576.5	-	1	502	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	165	Coil 1A.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TCCAGAGCCCGAACTTTGTCC	0.483																																						dbGAP											0													144.0	132.0	136.0					17																	38978345		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.493C>T	17.37:g.38978345G>A	ENSP00000269576:p.Arg165Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14664|Q8N175	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R165W	ENST00000269576.5	37	c.493	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353213	0.61293	.	.	ENSG00000186395	ENST00000269576	D	0.92595	-3.07	4.96	1.45	0.22620	Filament (1);	0.000000	0.33092	N	0.005283	D	0.97272	0.9108	H	0.97214	3.96	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.92337	0.5878	10	0.87932	D	0	.	14.816	0.70034	0.0:0.0:0.4257:0.5743	.	165	P13645	K1C10_HUMAN	W	165	ENSP00000269576:R165W	ENSP00000269576:R165W	R	-	1	2	KRT10	36231871	0.000000	0.05858	0.993000	0.49108	0.994000	0.84299	0.358000	0.20216	0.536000	0.28733	0.603000	0.83216	CGG	KRT10	-	pfam_F	ENSG00000186395		0.483	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	258	0.00	0	G	NM_000421		38978345	38978345	-1	no_errors	ENST00000269576	ensembl	human	known	69_37n	missense	116	17.14	24	SNP	0.029	A
KRT27	342574	genome.wustl.edu	37	17	38933915	38933915	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:38933915C>T	ENST00000301656.3	-	6	1082	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCGATCTGAGCCTGGATCTGT	0.542																																						dbGAP											0													160.0	161.0	161.0					17																	38933915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1042G>A	17.37:g.38933915C>T	ENSP00000301656:p.Ala348Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.A348T	ENST00000301656.3	37	c.1042	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464840	0.43839	.	.	ENSG00000171446	ENST00000301656	D	0.89123	-2.47	5.7	5.7	0.88788	Filament (1);	0.000000	0.64402	D	0.000004	D	0.84920	0.5579	L	0.33093	0.98	0.40937	D	0.984431	B	0.24186	0.099	B	0.25759	0.063	T	0.79738	-0.1677	10	0.29301	T	0.29	.	19.1898	0.93660	0.0:1.0:0.0:0.0	.	348	Q7Z3Y8	K1C27_HUMAN	T	348	ENSP00000301656:A348T	ENSP00000301656:A348T	A	-	1	0	KRT27	36187441	0.001000	0.12720	1.000000	0.80357	0.964000	0.63967	-0.064000	0.11636	2.855000	0.98099	0.650000	0.86243	GCT	KRT27	-	pfam_F,prints_Keratin_I	ENSG00000171446		0.542	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	304	0.00	0	C	NM_181537		38933915	38933915	-1	no_errors	ENST00000301656	ensembl	human	known	69_37n	missense	160	16.58	32	SNP	0.984	T
KRT34	3885	genome.wustl.edu	37	17	39538333	39538333	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:39538333C>T	ENST00000394001.1	-	1	322	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	98	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GTCTCCTTCTCGCTGCCATTG	0.617																																						dbGAP											0													106.0	99.0	102.0					17																	39538333		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.292G>A	17.37:g.39538333C>T	ENSP00000377570:p.Glu98Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E98K	ENST00000394001.1	37	c.292	CCDS11390.1	17	.	.	.	.	.	.	.	.	.	.	c	18.15	3.559302	0.65538	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.82	5.82	0.92795	Filament (1);	0.000000	0.64402	D	0.000004	D	0.86364	0.5915	M	0.91459	3.21	0.44890	D	0.997906	D	0.89917	1.0	D	0.83275	0.996	D	0.88589	0.3142	9	0.87932	D	0	.	19.141	0.93446	0.0:1.0:0.0:0.0	.	98	O76011	KRT34_HUMAN	K	56;98	.	ENSP00000251648:E98K	E	-	1	0	KRT34	36791859	1.000000	0.71417	0.968000	0.41197	0.073000	0.16967	4.771000	0.62318	2.764000	0.94973	0.650000	0.86243	GAG	KRT34	-	pfam_F	ENSG00000131737		0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	227	0.00	0	C	NM_021013		39538333	39538333	-1	no_errors	ENST00000394001	ensembl	human	known	69_37n	missense	120	28.57	48	SNP	1.000	T
KRT14	3861	genome.wustl.edu	37	17	39738737	39738737	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:39738737C>T	ENST00000167586.6	-	8	1455	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	457	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ACCTTGCCATCGTGCACATCC	0.612																																						dbGAP											0													68.0	50.0	56.0					17																	39738737		2200	4298	6498	-	-	-	SO:0001583	missense	0			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1369G>A	17.37:g.39738737C>T	ENSP00000167586:p.Asp457Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.D457N	ENST00000167586.6	37	c.1369	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833639	0.71258	.	.	ENSG00000186847	ENST00000167586	D	0.85088	-1.94	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000080	T	0.81517	0.4839	M	0.63843	1.955	0.44871	D	0.997889	P	0.46020	0.871	B	0.35813	0.211	T	0.81568	-0.0873	10	0.30854	T	0.27	.	16.4134	0.83726	0.0:1.0:0.0:0.0	.	457	P02533	K1C14_HUMAN	N	457	ENSP00000167586:D457N	ENSP00000167586:D457N	D	-	1	0	KRT14	36992263	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	4.700000	0.61803	2.689000	0.91719	0.655000	0.94253	GAT	KRT14	-	NULL	ENSG00000186847		0.612	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	162	0.61	1	C	NM_000526		39738737	39738737	-1	no_errors	ENST00000167586	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	1.000	T
KRT83	3889	genome.wustl.edu	37	12	52714754	52714754	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:52714754G>A	ENST00000293670.3	-	1	428	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	122	Coil 1A.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGGCCGCGAATCTGCTGT	0.572																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	dbGAP											0													216.0	186.0	196.0					12																	52714754		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.366C>T	12.37:g.52714754G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.F122	ENST00000293670.3	37	c.366	CCDS8823.1	12																																																																																			KRT83	-	pfam_F	ENSG00000170523		0.572	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	222	0.00	0	G	NM_002282		52714754	52714754	-1	no_errors	ENST00000293670	ensembl	human	known	69_37n	silent	64	25.58	22	SNP	0.532	A
KRT85	3891	genome.wustl.edu	37	12	52754751	52754751	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:52754751G>T	ENST00000257901.3	-	9	1485	c.1410C>A	c.(1408-1410)ggC>ggA	p.G470G	KRT85_ENST00000544265.1_Silent_p.G258G	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	470	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCTGAGGGGCCAGAAGTGA	0.667																																						dbGAP											0													31.0	35.0	34.0					12																	52754751		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1410C>A	12.37:g.52754751G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSB1	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G470	ENST00000257901.3	37	c.1410	CCDS8824.1	12																																																																																			KRT85	-	NULL	ENSG00000135443		0.667	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	135	0.00	0	G	NM_002283		52754751	52754751	-1	no_errors	ENST00000257901	ensembl	human	known	69_37n	silent	64	13.51	10	SNP	0.059	T
KRT82	3888	genome.wustl.edu	37	12	52788953	52788953	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:52788953G>T	ENST00000257974.2	-	9	1425	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	450	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCTCGTACAGGAAGGCGCCT	0.617																																						dbGAP											0													43.0	37.0	39.0					12																	52788953		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1348C>A	12.37:g.52788953G>T	ENSP00000257974:p.Leu450Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_II,prints_Keratin_I	p.L450M	ENST00000257974.2	37	c.1348	CCDS8826.1	12	.	.	.	.	.	.	.	.	.	.	G	5.135	0.210465	0.09757	.	.	ENSG00000161850	ENST00000257974	D	0.82711	-1.64	4.73	2.7	0.31948	.	0.000000	0.32041	N	0.006666	T	0.64583	0.2611	N	0.08118	0	0.09310	N	1	P	0.47350	0.894	B	0.43950	0.437	T	0.57406	-0.7817	10	0.38643	T	0.18	.	4.4337	0.11540	0.2235:0.0:0.6008:0.1757	.	450	Q9NSB4	KRT82_HUMAN	M	450	ENSP00000257974:L450M	ENSP00000257974:L450M	L	-	1	2	KRT82	51075220	0.108000	0.22018	0.027000	0.17364	0.049000	0.14656	0.907000	0.28531	0.988000	0.38734	0.561000	0.74099	CTG	KRT82	-	NULL	ENSG00000161850		0.617	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT82	HGNC	protein_coding	OTTHUMT00000405189.1	35	0.00	0	G	NM_033033		52788953	52788953	-1	no_errors	ENST00000257974	ensembl	human	known	69_37n	missense	20	51.22	21	SNP	0.019	T
KRT75	9119	genome.wustl.edu	37	12	52824397	52824397	+	Silent	SNP	G	G	A	rs200152351		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:52824397G>A	ENST00000252245.5	-	5	1183	c.963C>T	c.(961-963)gcC>gcT	p.A321A	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	321	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTTTGACCTCGGCGATGATAC	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		19636	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													207.0	174.0	186.0					12																	52824397		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.963C>T	12.37:g.52824397G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQU4|Q9NSA9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.A321	ENST00000252245.5	37	c.963	CCDS8827.1	12																																																																																			KRT75	-	pfam_F,superfamily_Prefoldin	ENSG00000170454		0.587	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	176	0.00	0	G	NM_004693		52824397	52824397	-1	no_errors	ENST00000252245	ensembl	human	known	69_37n	silent	158	29.46	66	SNP	0.027	A
KRT73	319101	genome.wustl.edu	37	12	53003055	53003055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:53003055C>A	ENST00000305748.3	-	8	1376	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	448	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGTATATTCTCCGGACATC	0.512																																						dbGAP											0													113.0	104.0	107.0					12																	53003055		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1342G>T	12.37:g.53003055C>A	ENSP00000307014:p.Glu448*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MB2	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E448*	ENST00000305748.3	37	c.1342	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034913	0.93575	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	.	.	.	4.79	4.79	0.61399	.	0.116708	0.37761	N	0.001959	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5404	0.61671	0.0:1.0:0.0:0.0	.	.	.	.	X	448;193	.	ENSP00000307014:E448X	E	-	1	0	KRT73	51289322	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.897000	0.56273	2.655000	0.90218	0.655000	0.94253	GAA	KRT73	-	NULL	ENSG00000186049		0.512	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	HGNC	protein_coding	OTTHUMT00000405700.1	143	0.00	0	C	NM_175068		53003055	53003055	-1	no_errors	ENST00000305748	ensembl	human	known	69_37n	nonsense	87	24.35	28	SNP	1.000	A
KRTAP24-1	643803	genome.wustl.edu	37	21	31654562	31654562	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:31654562G>T	ENST00000340345.4	-	1	714	c.689C>A	c.(688-690)tCt>tAt	p.S230Y		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	230	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAGCTCAGAGATCTGAAGCT	0.443																																						dbGAP											0													94.0	91.0	92.0					21																	31654562		1857	4089	5946	-	-	-	SO:0001583	missense	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.689C>A	21.37:g.31654562G>T	ENSP00000339238:p.Ser230Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XDX0	Missense_Mutation	SNP	pfam_PMG	p.S230Y	ENST00000340345.4	37	c.689	CCDS42915.1	21	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122623	0.37436	.	.	ENSG00000188694	ENST00000340345	T	0.38722	1.12	4.42	3.53	0.40419	.	0.470799	0.19699	N	0.108096	T	0.37183	0.0994	L	0.29908	0.895	0.31777	N	0.631352	D	0.56287	0.975	P	0.49528	0.614	T	0.48080	-0.9066	10	0.72032	D	0.01	-6.3399	8.8926	0.35444	0.1083:0.0:0.8917:0.0	.	230	Q3LI83	KR241_HUMAN	Y	230	ENSP00000339238:S230Y	ENSP00000339238:S230Y	S	-	2	0	KRTAP24-1	30576433	0.647000	0.27304	0.750000	0.31169	0.296000	0.27459	1.762000	0.38451	1.162000	0.42619	0.563000	0.77884	TCT	KRTAP24-1	-	NULL	ENSG00000188694		0.443	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	HGNC	protein_coding	OTTHUMT00000246806.2	211	0.00	0	G	NM_001085455		31654562	31654562	-1	no_errors	ENST00000340345	ensembl	human	known	69_37n	missense	114	25.00	38	SNP	0.809	T
KRTAP24-1	643803	genome.wustl.edu	37	21	31655159	31655159	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:31655159G>T	ENST00000340345.4	-	1	117	c.92C>A	c.(91-93)tCt>tAt	p.S31Y		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	31						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AAGAGTAACAGAAGAGGTCAC	0.488																																						dbGAP											0													69.0	69.0	69.0					21																	31655159		1963	4157	6120	-	-	-	SO:0001583	missense	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.92C>A	21.37:g.31655159G>T	ENSP00000339238:p.Ser31Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XDX0	Missense_Mutation	SNP	pfam_PMG	p.S31Y	ENST00000340345.4	37	c.92	CCDS42915.1	21	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320788	0.23994	.	.	ENSG00000188694	ENST00000340345	T	0.03301	3.98	4.02	4.02	0.46733	.	0.525108	0.18740	N	0.132468	T	0.15046	0.0363	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.69307	0.963	T	0.01068	-1.1462	10	0.87932	D	0	-0.2346	12.3613	0.55205	0.0:0.0:1.0:0.0	.	31	Q3LI83	KR241_HUMAN	Y	31	ENSP00000339238:S31Y	ENSP00000339238:S31Y	S	-	2	0	KRTAP24-1	30577030	0.200000	0.23398	0.019000	0.16419	0.016000	0.09150	4.029000	0.57253	2.181000	0.69327	0.591000	0.81541	TCT	KRTAP24-1	-	pfam_PMG	ENSG00000188694		0.488	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	HGNC	protein_coding	OTTHUMT00000246806.2	132	0.00	0	G	NM_001085455		31655159	31655159	-1	no_errors	ENST00000340345	ensembl	human	known	69_37n	missense	100	11.50	13	SNP	0.047	T
KRTAP10-10	353333	genome.wustl.edu	37	21	46057509	46057509	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:46057509C>T	ENST00000380095.1	+	1	237	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	59	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCCTGTGAGCCCAGCGCCTG	0.667																																						dbGAP											0													62.0	67.0	65.0					21																	46057509		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.175C>T	21.37:g.46057509C>T	ENSP00000369438:p.Pro59Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P59S	ENST00000380095.1	37	c.175	CCDS33585.1	21	.	.	.	.	.	.	.	.	.	.	c	0.063	-1.220124	0.01542	.	.	ENSG00000221859	ENST00000380095	T	0.01165	5.24	1.8	-2.44	0.06502	.	.	.	.	.	T	0.00998	0.0033	L	0.39397	1.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46133	-0.9213	9	0.24483	T	0.36	.	3.2797	0.06911	0.0:0.306:0.2204:0.4735	.	59	P60014	KR10A_HUMAN	S	59	ENSP00000369438:P59S	ENSP00000369438:P59S	P	+	1	0	KRTAP10-10	44881937	0.000000	0.05858	0.005000	0.12908	0.021000	0.10359	-1.732000	0.01851	-0.822000	0.04306	-0.676000	0.03789	CCC	KRTAP10-10	-	NULL	ENSG00000221859		0.667	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-10	HGNC	protein_coding	OTTHUMT00000128034.1	218	0.00	0	C	NM_181688		46057509	46057509	+1	no_errors	ENST00000380095	ensembl	human	known	69_37n	missense	174	15.53	32	SNP	0.002	T
KRTAP5-7	440050	genome.wustl.edu	37	11	71238594	71238594	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:71238594C>A	ENST00000398536.4	+	1	282	c.248C>A	c.(247-249)tCt>tAt	p.S83Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	83	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGGGGTTCTAAGGGGGGC	0.652																																						dbGAP											0													74.0	100.0	91.0					11																	71238594		2200	4294	6494	-	-	-	SO:0001583	missense	0			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.248C>A	11.37:g.71238594C>A	ENSP00000417330:p.Ser83Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM3|Q701N5	Missense_Mutation	SNP	NULL	p.S83Y	ENST00000398536.4	37	c.248	CCDS41682.1	11	.	.	.	.	.	.	.	.	.	.	N	2.803	-0.248803	0.05867	.	.	ENSG00000244411	ENST00000398536	T	0.01414	4.92	2.46	-0.469	0.12142	.	.	.	.	.	T	0.01905	0.0060	M	0.64080	1.96	0.21416	N	0.999698	P	0.47910	0.902	B	0.35413	0.202	T	0.43442	-0.9391	9	0.59425	D	0.04	.	11.7859	0.52043	0.0:0.6783:0.3217:0.0	.	83	Q6L8G8	KRA57_HUMAN	Y	83	ENSP00000417330:S83Y	ENSP00000417330:S83Y	S	+	2	0	KRTAP5-7	70916242	0.998000	0.40836	0.817000	0.32601	0.041000	0.13682	0.327000	0.19663	-0.289000	0.09038	0.281000	0.19383	TCT	KRTAP5-7	-	NULL	ENSG00000244411		0.652	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-7	HGNC	protein_coding	OTTHUMT00000127953.1	245	0.00	0	C			71238594	71238594	+1	no_errors	ENST00000398536	ensembl	human	known	69_37n	missense	122	18.67	28	SNP	0.832	A
TRIM46	80128	genome.wustl.edu	37	1	155144934	155144934	+	5'Flank	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155144934T>G	ENST00000334634.4	+	0	0				TRIM46_ENST00000368383.3_5'Flank|TRIM46_ENST00000545012.1_5'Flank|TRIM46_ENST00000392451.2_5'Flank|TRIM46_ENST00000368382.1_5'Flank|KRTCAP2_ENST00000295682.4_Intron|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000543729.1_5'Flank|KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000368385.4_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCAGTAAATATATTTCTCCTT	0.398																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155144934T>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	RNA	SNP	-	NULL	ENST00000334634.4	37	NULL	CCDS1097.1	1																																																																																			KRTCAP2	-	-	ENSG00000163463		0.398	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTCAP2	HGNC	protein_coding	OTTHUMT00000086728.1	55	0.00	0	T	NM_025058		155144934	155144934	-1	no_errors	ENST00000463527	ensembl	human	known	69_37n	rna	36	33.33	18	SNP	0.001	G
KSR1	8844	genome.wustl.edu	37	17	25919611	25919611	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:25919611G>A	ENST00000319524.6	+	9	1258	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	KSR1_ENST00000268763.6_Missense_Mutation_p.E283K|KSR1_ENST00000509603.2_Missense_Mutation_p.E420K|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000398988.3_Missense_Mutation_p.E283K			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	420					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CAGAGCAGCCGAACCCCATTT	0.542																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	dbGAP											0													73.0	72.0	72.0					17																	25919611		1906	4121	6027	-	-	-	SO:0001583	missense	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1258G>A	17.37:g.25919611G>A	ENSP00000323178:p.Glu420Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E420K	ENST00000319524.6	37	c.1258		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.778581|3.778581	0.70107|0.70107	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T;T|.	0.80033|.	-1.33;-1.32;-1.32;-1.33|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.225657|.	0.44688|.	D|.	0.000424|.	T|T	0.67449|0.67449	0.2894|0.2894	L|L	0.56769|0.56769	1.78|1.78	0.34307|0.34307	D|D	0.685048|0.685048	D;D|.	0.89917|.	1.0;0.964|.	D;B|.	0.77557|.	0.99;0.414|.	T|T	0.74225|0.74225	-0.3734|-0.3734	10|5	0.08599|.	T|.	0.76|.	.|.	17.5918|17.5918	0.87999|0.87999	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	418;420|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	K|Q	420;420;283;283|155	ENSP00000323178:E420K;ENSP00000438795:E420K;ENSP00000268763:E283K;ENSP00000381952:E283K|.	ENSP00000268763:E283K|.	E|R	+|+	1|2	0|0	KSR1|KSR1	22943738|22943738	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.984000|0.984000	0.73092|0.73092	9.338000|9.338000	0.96553|0.96553	2.409000|2.409000	0.81822|0.81822	0.591000|0.591000	0.81541|0.81541	GAA|CGA	KSR1	-	NULL	ENSG00000141068		0.542	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		328	0.00	0	G	NM_014238		25919611	25919611	+1	no_errors	ENST00000319524	ensembl	human	known	69_37n	missense	225	18.64	52	SNP	0.996	A
L1TD1	54596	genome.wustl.edu	37	1	62676790	62676790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:62676790G>T	ENST00000498273.1	+	4	2639	c.2344G>T	c.(2344-2346)Gaa>Taa	p.E782*	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	782										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						agagagaagagaaattaccta	0.373																																						dbGAP											0													24.0	21.0	22.0					1																	62676790		1861	3490	5351	-	-	-	SO:0001587	stop_gained	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2344G>T	1.37:g.62676790G>T	ENSP00000419901:p.Glu782*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E782*	ENST00000498273.1	37	c.2344	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.081968	0.98051	.	.	ENSG00000240563	ENST00000498273	.	.	.	2.67	0.682	0.17992	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.8086	0.08788	0.1515:0.2556:0.5929:0.0	.	.	.	.	X	782	.	ENSP00000419901:E782X	E	+	1	0	L1TD1	62449378	0.127000	0.22367	0.003000	0.11579	0.264000	0.26372	0.684000	0.25364	0.205000	0.20568	0.305000	0.20034	GAA	L1TD1	-	pfam_Transposase_22	ENSG00000240563		0.373	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1	69	0.00	0	G	NM_019079		62676790	62676790	+1	no_errors	ENST00000498273	ensembl	human	known	69_37n	nonsense	56	20.00	14	SNP	0.004	T
L2HGDH	79944	genome.wustl.edu	37	14	50750613	50750613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:50750613C>A	ENST00000267436.4	-	5	1076	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	L2HGDH_ENST00000261699.4_Nonsense_Mutation_p.E227*|L2HGDH_ENST00000421284.3_Nonsense_Mutation_p.E227*|L2HGDH_ENST00000555423.1_Nonsense_Mutation_p.E227*|L2HGDH_ENST00000555610.1_3'UTR			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	227					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GAAGGACTTTCTTTAGCCATT	0.418																																						dbGAP											0													84.0	88.0	87.0					14																	50750613		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.679G>T	14.37:g.50750613C>A	ENSP00000267436:p.Glu227*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRR1	Nonsense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.E227*	ENST00000267436.4	37	c.679	CCDS9698.1	14	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410749	0.62399	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000555423	.	.	.	5.03	5.03	0.67393	.	0.105868	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-23.478	19.2574	0.93951	0.0:1.0:0.0:0.0	.	.	.	.	X	227	.	ENSP00000261699:E227X	E	-	1	0	L2HGDH	49820363	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	6.336000	0.72954	2.713000	0.92767	0.455000	0.32223	GAA	L2HGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000087299		0.418	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	192	0.00	0	C	NM_024884		50750613	50750613	-1	no_errors	ENST00000267436	ensembl	human	known	69_37n	nonsense	135	16.15	26	SNP	1.000	A
LACRT	90070	genome.wustl.edu	37	12	55025525	55025525	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55025525C>T	ENST00000257867.4	-	4	405	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	LACRT_ENST00000547511.1_Missense_Mutation_p.E107K	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	118					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CACTCACTTTCGATGAATTGT	0.493																																						dbGAP											0													233.0	193.0	206.0					12																	55025525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.352G>A	12.37:g.55025525C>T	ENSP00000257867:p.Glu118Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E118K	ENST00000257867.4	37	c.352	CCDS8883.1	12	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277671	0.23307	.	.	ENSG00000135413	ENST00000546721;ENST00000547511;ENST00000257867	.	.	.	2.76	-1.59	0.08453	.	.	.	.	.	T	0.18130	0.0435	N	0.14661	0.345	0.09310	N	1	B	0.28971	0.229	B	0.20577	0.03	T	0.15350	-1.0440	8	0.87932	D	0	.	6.605	0.22720	0.0:0.3174:0.0:0.6826	.	118	Q9GZZ8	LACRT_HUMAN	K	77;107;118	.	ENSP00000257867:E118K	E	-	1	0	LACRT	53311792	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.526000	0.00947	-0.385000	0.07833	0.462000	0.41574	GAA	LACRT	-	NULL	ENSG00000135413		0.493	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACRT	HGNC	protein_coding	OTTHUMT00000406615.1	309	0.00	0	C	NM_033277		55025525	55025525	-1	no_errors	ENST00000257867	ensembl	human	known	69_37n	missense	255	12.93	38	SNP	0.000	T
LACTB2	51110	genome.wustl.edu	37	8	71553220	71553220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:71553220G>A	ENST00000276590.4	-	5	694	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LACTB2_ENST00000517601.1_Intron|LACTB2_ENST00000522447.1_Nonsense_Mutation_p.R220*|RP11-382J12.1_ENST00000499227.2_Intron|RP11-382J12.1_ENST00000518553.1_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	220						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R220*(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTGCTCTCGAATATTTCTG	0.294																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											39.0	40.0	40.0					8																	71553220		2201	4285	6486	-	-	-	SO:0001587	stop_gained	0			AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.658C>T	8.37:g.71553220G>A	ENSP00000276590:p.Arg220*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D6|Q9Y392	Nonsense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.R220*	ENST00000276590.4	37	c.658	CCDS6208.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373569	0.82573	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	.	.	.	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0669	14.9984	0.71451	0.0684:0.0:0.9316:0.0	.	.	.	.	X	220	.	ENSP00000276590:R220X	R	-	1	2	LACTB2	71715774	1.000000	0.71417	0.890000	0.34922	0.704000	0.40688	6.100000	0.71473	1.448000	0.47680	-0.169000	0.13324	CGA	LACTB2	-	NULL	ENSG00000147592		0.294	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB2	HGNC	protein_coding	OTTHUMT00000378748.1	70	0.00	0	G	NM_016027		71553220	71553220	-1	no_errors	ENST00000276590	ensembl	human	known	69_37n	nonsense	44	32.31	21	SNP	0.987	A
LAMA1	284217	genome.wustl.edu	37	18	6961602	6961602	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:6961602G>A	ENST00000389658.3	-	53	7702	c.7609C>T	c.(7609-7611)Cgt>Tgt	p.R2537C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2537	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTTCCTCACGATCACCCCGC	0.532																																						dbGAP											0													46.0	41.0	43.0					18																	6961602		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7609C>T	18.37:g.6961602G>A	ENSP00000374309:p.Arg2537Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2537C	ENST00000389658.3	37	c.7609	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785514	0.49997	.	.	ENSG00000101680	ENST00000389658	T	0.19669	2.13	4.44	1.39	0.22231	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	1.697230	0.03763	N	0.258441	T	0.36496	0.0969	M	0.68593	2.085	0.09310	N	0.999998	D	0.69078	0.997	P	0.54965	0.765	T	0.08994	-1.0695	10	0.72032	D	0.01	.	5.2015	0.15267	0.0807:0.1448:0.6248:0.1497	.	2537	P25391	LAMA1_HUMAN	C	2537	ENSP00000374309:R2537C	ENSP00000374309:R2537C	R	-	1	0	LAMA1	6951602	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.778000	0.26732	0.312000	0.23038	0.655000	0.94253	CGT	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	82	0.00	0	G	NM_005559		6961602	6961602	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	0.000	A
LAMA3	3909	genome.wustl.edu	37	18	21330924	21330924	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:21330924T>G	ENST00000313654.9	+	5	968	c.727T>G	c.(727-729)Ttt>Gtt	p.F243V	LAMA3_ENST00000399516.3_Missense_Mutation_p.F243V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	243	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGCAAAAAATTTTACTTTCTC	0.423																																						dbGAP											0													122.0	121.0	121.0					18																	21330924		1868	4096	5964	-	-	-	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.727T>G	18.37:g.21330924T>G	ENSP00000324532:p.Phe243Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.F243V	ENST00000313654.9	37	c.727	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935763	0.52972	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.75260	-0.92;-0.92	5.64	4.48	0.54585	Laminin, N-terminal (3);	.	.	.	.	T	0.74053	0.3666	M	0.85373	2.75	0.80722	D	1	P;B;B	0.42908	0.793;0.166;0.053	B;B;B	0.36186	0.219;0.095;0.048	T	0.76242	-0.3031	9	0.59425	D	0.04	.	11.3315	0.49479	0.0:0.0707:0.0:0.9293	.	243;243;243	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	V	243	ENSP00000324532:F243V;ENSP00000382432:F243V	ENSP00000324532:F243V	F	+	1	0	LAMA3	19584922	1.000000	0.71417	0.980000	0.43619	0.846000	0.48090	4.818000	0.62657	0.970000	0.38263	0.533000	0.62120	TTT	LAMA3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000053747		0.423	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	299	0.00	0	T	NM_000227, NM_198129		21330924	21330924	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	missense	153	26.44	55	SNP	1.000	G
LAMA3	3909	genome.wustl.edu	37	18	21483960	21483960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:21483960G>T	ENST00000313654.9	+	50	6623	c.6382G>T	c.(6382-6384)Gaa>Taa	p.E2128*	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.E463*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E2072*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.E519*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2128	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAAAGTAAGAGAACTTTCCAG	0.408																																						dbGAP											0													86.0	92.0	90.0					18																	21483960		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6382G>T	18.37:g.21483960G>T	ENSP00000324532:p.Glu2128*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E2128*	ENST00000313654.9	37	c.6382	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	48	14.078677	0.99778	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	8.0485	0.30564	0.1824:0.0:0.8176:0.0	.	.	.	.	X	2128;2072;519	.	ENSP00000269217:E519X	E	+	1	0	LAMA3	19737958	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.593000	0.36686	2.906000	0.99361	0.655000	0.94253	GAA	LAMA3	-	NULL	ENSG00000053747		0.408	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	128	0.00	0	G	NM_000227, NM_198129		21483960	21483960	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	nonsense	64	18.99	15	SNP	0.999	T
LAMB1	3912	genome.wustl.edu	37	7	107593977	107593977	+	Missense_Mutation	SNP	C	C	T	rs193010498		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107593977C>T	ENST00000222399.6	-	22	3307	c.3077G>A	c.(3076-3078)cGa>cAa	p.R1026Q	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1050Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1026	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CATCTTACTTCGACAGTCCTG	0.448																																						dbGAP											0													126.0	109.0	115.0					7																	107593977		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3077G>A	7.37:g.107593977C>T	ENSP00000222399:p.Arg1026Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R1026Q	ENST00000222399.6	37	c.3077	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669626	0.88348	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.63096	-0.02;-0.02	5.23	5.23	0.72850	EGF-like, laminin (2);	.	.	.	.	T	0.76506	0.3997	L	0.56124	1.755	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.85130	0.997;0.749	T	0.74979	-0.3479	9	0.48119	T	0.1	.	19.3592	0.94428	0.0:1.0:0.0:0.0	.	1026;1050	P07942;G3XAI2	LAMB1_HUMAN;.	Q	1050;1026	ENSP00000377191:R1050Q;ENSP00000222399:R1026Q	ENSP00000222399:R1026Q	R	-	2	0	LAMB1	107381213	1.000000	0.71417	0.511000	0.27724	0.651000	0.38670	4.796000	0.62496	2.879000	0.98667	0.650000	0.86243	CGA	LAMB1	-	smart_EGF-like,pfscan_EGF_laminin	ENSG00000091136		0.448	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	184	0.00	0	C	NM_002291		107593977	107593977	-1	no_errors	ENST00000222399	ensembl	human	known	69_37n	missense	133	20.36	34	SNP	0.991	T
LAMB1	3912	genome.wustl.edu	37	7	107594132	107594132	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107594132C>T	ENST00000222399.6	-	22	3152	c.2922G>A	c.(2920-2922)caG>caA	p.Q974Q	LAMB1_ENST00000393561.1_Silent_p.Q998Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	974	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACTGGCAAGGCTGACACGACC	0.517																																						dbGAP											0													150.0	124.0	133.0					7																	107594132		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2922G>A	7.37:g.107594132C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D91	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q974	ENST00000222399.6	37	c.2922	CCDS5750.1	7																																																																																			LAMB1	-	pfscan_EGF_laminin	ENSG00000091136		0.517	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	150	0.00	0	C	NM_002291		107594132	107594132	-1	no_errors	ENST00000222399	ensembl	human	known	69_37n	silent	77	17.20	16	SNP	1.000	T
LAMC3	10319	genome.wustl.edu	37	9	133963173	133963173	+	Silent	SNP	C	C	T	rs200452667	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:133963173C>T	ENST00000361069.4	+	27	4579	c.4446C>T	c.(4444-4446)atC>atT	p.I1482I	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1482	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAAGGACATCGAGACCTTGT	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		20316	0.0		0.002	False		,,,				2504	0.0					dbGAP											0													88.0	83.0	85.0					9																	133963173		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4446C>T	9.37:g.133963173C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	NULL	p.S164L	ENST00000361069.4	37	c.491	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	C	0.301	-0.973991	0.02215	.	.	ENSG00000050555	ENST00000355452	.	.	.	5.13	2.28	0.28536	.	.	.	.	.	T	0.27241	0.0668	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	T	0.22452	-1.0216	4	.	.	.	.	5.5829	0.17260	0.0:0.6591:0.1615:0.1795	.	.	.	.	L	164	.	.	S	+	2	0	LAMC3	132952994	0.065000	0.20965	0.012000	0.15200	0.000000	0.00434	0.137000	0.15995	0.197000	0.20387	-0.362000	0.07510	TCG	LAMC3	-	NULL	ENSG00000050555		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	56	0.00	0	C	NM_006059		133963173	133963173	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000355452	ensembl	human	putative	69_37n	missense	42	26.32	15	SNP	0.118	T
LAMP2	3920	genome.wustl.edu	37	X	119573089	119573089	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:119573089G>T	ENST00000200639.4	-	8	1230				LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000371335.4_Missense_Mutation_p.L385I|LAMP2_ENST00000540603.1_Missense_Mutation_p.L338I			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AAGCCTGAAAGACCAGCACCA	0.368																																						dbGAP											0													150.0	128.0	136.0					X																	119573089		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1093+2495C>A	X.37:g.119573089G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.L385I	ENST00000200639.4	37	c.1153	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233855	0.79688	.	.	ENSG00000005893	ENST00000371335;ENST00000540603	T;T	0.53640	0.61;0.61	5.53	4.67	0.58626	.	.	.	.	.	T	0.67915	0.2944	M	0.77103	2.36	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70498	-0.4855	9	0.56958	D	0.05	.	12.5505	0.56223	0.0819:0.0:0.9181:0.0	.	338;385	B4E2S7;P13473-2	.;.	I	385;338	ENSP00000360386:L385I;ENSP00000440479:L338I	ENSP00000360386:L385I	L	-	1	0	LAMP2	119457117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	1.120000	0.41904	-0.268000	0.10319	CTT	LAMP2	-	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	ENSG00000005893		0.368	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	299	0.00	0	G			119573089	119573089	-1	no_errors	ENST00000371335	ensembl	human	known	69_37n	missense	159	11.17	20	SNP	1.000	T
LAMP2	3920	genome.wustl.edu	37	X	119581881	119581881	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:119581881C>A	ENST00000200639.4	-	5	693		c.e5-1		LAMP2_ENST00000434600.2_Splice_Site|LAMP2_ENST00000538785.1_Splice_Site|LAMP2_ENST00000371335.4_Splice_Site|LAMP2_ENST00000540603.1_Splice_Site			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CACAGGAACTCTAAAACAAGC	0.393																																						dbGAP											0													142.0	130.0	134.0					X																	119581881		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.557-1G>T	X.37:g.119581881C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Splice_Site	SNP	-	e5-1	ENST00000200639.4	37	c.557-1	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778591	0.31502	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5188	0.84308	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMP2	119465909	1.000000	0.71417	0.994000	0.49952	0.111000	0.19643	5.675000	0.68123	2.508000	0.84585	0.600000	0.82982	.	LAMP2	-	-	ENSG00000005893		0.393	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	627	0.00	0	C		Intron	119581881	119581881	-1	no_errors	ENST00000434600	ensembl	human	known	69_37n	splice_site	662	19.24	158	SNP	0.999	A
LAP3	51056	genome.wustl.edu	37	4	17609060	17609060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:17609060G>T	ENST00000226299.4	+	13	1682	c.1408G>T	c.(1408-1410)Gaa>Taa	p.E470*	LAP3_ENST00000606142.1_Nonsense_Mutation_p.E439*|LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	470					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ATTCCTGAAAGAATTCGTAAC	0.453																																						dbGAP											0													117.0	108.0	111.0					4																	17609060		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1408G>T	4.37:g.17609060G>T	ENSP00000226299:p.Glu470*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Nonsense_Mutation	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17	p.E470*	ENST00000226299.4	37	c.1408	CCDS3422.1	4	.	.	.	.	.	.	.	.	.	.	G	41	8.589542	0.98875	.	.	ENSG00000002549	ENST00000226299	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-36.1738	20.206	0.98277	0.0:0.0:1.0:0.0	.	.	.	.	X	470	.	ENSP00000226299:E470X	E	+	1	0	LAP3	17218158	1.000000	0.71417	0.783000	0.31826	0.966000	0.64601	9.572000	0.98179	2.785000	0.95823	0.655000	0.94253	GAA	LAP3	-	pfam_Peptidase_M17_C	ENSG00000002549		0.453	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1	100	0.00	0	G			17609060	17609060	+1	no_errors	ENST00000226299	ensembl	human	known	69_37n	nonsense	69	21.59	19	SNP	1.000	T
LARP1	23367	genome.wustl.edu	37	5	154173460	154173460	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:154173460G>A	ENST00000336314.4	+	6	762	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	323					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGAGACATCGAGTGTGAAGA	0.701																																						dbGAP											0													56.0	68.0	64.0					5																	154173460		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.738G>A	5.37:g.154173460G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	NULL	p.E85K	ENST00000336314.4	37	c.253	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391827	0.25118	.	.	ENSG00000155506	ENST00000518194	.	.	.	5.8	3.77	0.43336	.	.	.	.	.	T	0.57095	0.2030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52071	-0.8624	4	.	.	.	-6.2342	7.8952	0.29702	0.0969:0.3733:0.5298:0.0	.	.	.	.	K	85	.	.	E	+	1	0	LARP1	154153653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.852000	0.27764	2.735000	0.93741	0.655000	0.94253	GAG	LARP1	-	NULL	ENSG00000155506		0.701	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	81	0.00	0	G	NM_033551		154173460	154173460	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000518194	ensembl	human	putative	69_37n	missense	31	24.39	10	SNP	1.000	A
LARP1	23367	genome.wustl.edu	37	5	154173558	154173558	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:154173558G>A	ENST00000336314.4	+	6	860	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	356					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGGCACTCGAAGTACGTGA	0.687																																						dbGAP											0													62.0	64.0	63.0					5																	154173558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.836G>A	5.37:g.154173558G>A	ENSP00000336721:p.Arg279Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.R279Q	ENST00000336314.4	37	c.836	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156602	0.78114	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248	T;T;T	0.44482	0.92;0.92;0.92	5.8	4.92	0.64577	.	0.237591	0.39759	N	0.001262	T	0.44582	0.1300	L	0.41492	1.28	0.48288	D	0.999623	D;D	0.71674	0.998;0.99	P;P	0.51833	0.652;0.681	T	0.22034	-1.0228	10	0.20046	T	0.44	-5.6397	15.8808	0.79205	0.0:0.0:0.8633:0.1367	.	356;279	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	Q	279;356;151	ENSP00000336721:R279Q;ENSP00000428589:R356Q;ENSP00000429904:R151Q	ENSP00000336721:R279Q	R	+	2	0	LARP1	154153751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.081000	0.71309	1.419000	0.47118	0.655000	0.94253	CGA	LARP1	-	NULL	ENSG00000155506		0.687	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1	70	0.00	0	G	NM_033551		154173558	154173558	+1	no_errors	ENST00000336314	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	A
LARP1B	55132	genome.wustl.edu	37	4	129121815	129121815	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:129121815T>G	ENST00000326639.6	+	17	2515	c.2304T>G	c.(2302-2304)aaT>aaG	p.N768K	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.N709K|LARP1B_ENST00000354456.3_Missense_Mutation_p.N187K|LARP1B_ENST00000441387.1_Missense_Mutation_p.N768K	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	768						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CAAAAGAAAATTACAGGTCAG	0.333																																						dbGAP											0													41.0	42.0	42.0					4																	129121815		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.2304T>G	4.37:g.129121815T>G	ENSP00000321997:p.Asn768Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.N768K	ENST00000326639.6	37	c.2304	CCDS3738.1	4	.	.	.	.	.	.	.	.	.	.	T	15.35	2.807901	0.50421	.	.	ENSG00000138709	ENST00000326639;ENST00000264584;ENST00000441387;ENST00000354456	T;T;T;T	0.27104	1.69;1.69;1.89;1.69	4.73	3.56	0.40772	.	0.102206	0.64402	D	0.000004	T	0.19406	0.0466	L	0.52364	1.645	0.32805	D	0.500606	B;P	0.41420	0.409;0.749	B;B	0.38264	0.211;0.269	T	0.34104	-0.9842	10	0.72032	D	0.01	.	3.3046	0.06996	0.0:0.3258:0.0:0.6742	.	187;768	Q659C4-5;Q659C4	.;LAR1B_HUMAN	K	768;709;768;187	ENSP00000321997:N768K;ENSP00000264584:N709K;ENSP00000396521:N768K;ENSP00000346444:N187K	ENSP00000264584:N709K	N	+	3	2	LARP1B	129341265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.557000	0.36299	1.999000	0.58509	0.459000	0.35465	AAT	LARP1B	-	smart_DM15	ENSG00000138709		0.333	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	157	0.00	0	T	NM_018078		129121815	129121815	+1	no_errors	ENST00000326639	ensembl	human	known	69_37n	missense	107	10.83	13	SNP	1.000	G
LARP4	113251	genome.wustl.edu	37	12	50855013	50855013	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50855013G>T	ENST00000398473.2	+	11	1329	c.1217G>T	c.(1216-1218)aGa>aTa	p.R406I	LARP4_ENST00000429001.3_Missense_Mutation_p.R412I|LARP4_ENST00000347328.5_Missense_Mutation_p.R335I|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000522085.1_Missense_Mutation_p.R406I|LARP4_ENST00000518444.1_Missense_Mutation_p.R405I|LARP4_ENST00000518561.1_Missense_Mutation_p.R336I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	406					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TATAGTTCAAGAAACTTTCCA	0.473																																						dbGAP											0													127.0	117.0	120.0					12																	50855013		1903	4108	6011	-	-	-	SO:0001583	missense	0			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1217G>T	12.37:g.50855013G>T	ENSP00000381490:p.Arg406Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.R412I	ENST00000398473.2	37	c.1235	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	G	12.00	1.808064	0.31961	.	.	ENSG00000161813	ENST00000429001;ENST00000398473;ENST00000522085;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T	0.50001	1.41;1.41;0.79;1.41;0.76;1.39	4.37	4.37	0.52481	.	0.182999	0.46758	D	0.000277	T	0.56702	0.2003	L	0.59436	1.845	0.80722	D	1	P;P;D;P;P	0.54964	0.529;0.708;0.969;0.579;0.813	B;P;P;B;P	0.53809	0.23;0.481;0.735;0.235;0.533	T	0.53739	-0.8396	10	0.25106	T	0.35	.	17.7781	0.88515	0.0:0.0:1.0:0.0	.	307;405;335;406;412	Q71RC2-2;Q71RC2-3;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	I	412;406;406;405;336;307;335	ENSP00000415464:R412I;ENSP00000381490:R406I;ENSP00000429781:R406I;ENSP00000429077:R405I;ENSP00000430851:R336I;ENSP00000340901:R335I	ENSP00000340901:R335I	R	+	2	0	LARP4	49141280	1.000000	0.71417	0.488000	0.27440	0.163000	0.22366	6.614000	0.74197	2.365000	0.80145	0.462000	0.41574	AGA	LARP4	-	NULL	ENSG00000161813		0.473	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	HGNC	protein_coding	OTTHUMT00000374981.1	115	0.00	0	G	NM_052879		50855013	50855013	+1	no_errors	ENST00000429001	ensembl	human	known	69_37n	missense	120	13.67	19	SNP	0.992	T
LARP4	113251	genome.wustl.edu	37	12	50860824	50860824	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50860824G>T	ENST00000398473.2	+	13	1578	c.1466G>T	c.(1465-1467)gGa>gTa	p.G489V	LARP4_ENST00000429001.3_Missense_Mutation_p.G495V|LARP4_ENST00000347328.5_Missense_Mutation_p.G418V|LARP4_ENST00000293618.8_Missense_Mutation_p.G418V|LARP4_ENST00000518444.1_Missense_Mutation_p.G488V	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	489					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCTTTACCTGGAAGTTCATCA	0.388																																						dbGAP											0													117.0	105.0	109.0					12																	50860824		1857	4098	5955	-	-	-	SO:0001583	missense	0			AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1466G>T	12.37:g.50860824G>T	ENSP00000381490:p.Gly489Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.G495V	ENST00000398473.2	37	c.1484	CCDS41782.1	12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431376	0.83776	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	M	0.74647	2.275	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.56745	-0.7928	10	0.28530	T	0.3	.	18.9194	0.92519	0.0:0.0:1.0:0.0	.	390;488;418;418;489;495	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	V	418;495;489;488;390;418	ENSP00000293618:G418V;ENSP00000415464:G495V;ENSP00000381490:G489V;ENSP00000429077:G488V;ENSP00000340901:G418V	ENSP00000293618:G418V	G	+	2	0	LARP4	49147091	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.835000	0.92100	2.645000	0.89757	0.455000	0.32223	GGA	LARP4	-	NULL	ENSG00000161813		0.388	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP4	HGNC	protein_coding	OTTHUMT00000374981.1	379	0.00	0	G	NM_052879		50860824	50860824	+1	no_errors	ENST00000429001	ensembl	human	known	69_37n	missense	379	10.19	43	SNP	1.000	T
LATS1	9113	genome.wustl.edu	37	6	149983263	149983263	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:149983263T>C	ENST00000543571.1	-	8	3542	c.2995A>G	c.(2995-2997)Aat>Gat	p.N999D	LATS1_ENST00000253339.5_Missense_Mutation_p.N999D	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCAGCACCATTCTTGCCTAAG	0.403																																						dbGAP											0													126.0	129.0	128.0					6																	149983263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2995A>G	6.37:g.149983263T>C	ENSP00000437550:p.Asn999Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.N999D	ENST00000543571.1	37	c.2995	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429140	0.43122	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.07800	3.16;3.16	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000042	T	0.02083	0.0065	N	0.11313	0.125	0.80722	D	1	B	0.18013	0.025	B	0.24006	0.05	T	0.48636	-0.9018	9	.	.	.	.	15.5128	0.75798	0.0:0.0:0.0:1.0	.	999	O95835	LATS1_HUMAN	D	999	ENSP00000437550:N999D;ENSP00000253339:N999D	.	N	-	1	0	LATS1	150024956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.923000	0.70045	2.071000	0.62044	0.482000	0.46254	AAT	LATS1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000131023		0.403	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	153	0.00	0	T	NM_004690		149983263	149983263	-1	no_errors	ENST00000253339	ensembl	human	known	69_37n	missense	145	17.61	31	SNP	1.000	C
LATS2	26524	genome.wustl.edu	37	13	21557447	21557447	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:21557447C>A	ENST00000382592.4	-	5	2803	c.2398G>T	c.(2398-2400)Gat>Tat	p.D800Y	LATS2_ENST00000542899.1_Missense_Mutation_p.D800Y	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCATCCAGATCTATCAAAATG	0.468																																						dbGAP											0													103.0	94.0	97.0					13																	21557447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2398G>T	13.37:g.21557447C>A	ENSP00000372035:p.Asp800Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.D800Y	ENST00000382592.4	37	c.2398	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124770	0.77436	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.11604	2.76;2.76	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.44030	0.1274	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55661	-0.8106	10	0.87932	D	0	.	18.6639	0.91481	0.0:1.0:0.0:0.0	.	800	Q9NRM7	LATS2_HUMAN	Y	800	ENSP00000372035:D800Y;ENSP00000441817:D800Y	ENSP00000372035:D800Y	D	-	1	0	LATS2	20455447	1.000000	0.71417	0.086000	0.20670	0.983000	0.72400	7.568000	0.82369	2.633000	0.89246	0.555000	0.69702	GAT	LATS2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000150457		0.468	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	64	0.00	0	C			21557447	21557447	-1	no_errors	ENST00000382592	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.998	A
LATS2	26524	genome.wustl.edu	37	13	21557891	21557891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:21557891C>A	ENST00000382592.4	-	5	2359	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	LATS2_ENST00000542899.1_Nonsense_Mutation_p.E652*	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TAATTAGACTCTTTCTGGTAG	0.473																																						dbGAP											0													97.0	100.0	99.0					13																	21557891		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1954G>T	13.37:g.21557891C>A	ENSP00000372035:p.Glu652*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.E652*	ENST00000382592.4	37	c.1954	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	C	43	9.894500	0.99289	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9571	0.92662	0.0:1.0:0.0:0.0	.	.	.	.	X	652	.	ENSP00000372035:E652X	E	-	1	0	LATS2	20455891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	2.709000	0.92574	0.555000	0.69702	GAG	LATS2	-	superfamily_Kinase-like_dom	ENSG00000150457		0.473	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	83	0.00	0	C			21557891	21557891	-1	no_errors	ENST00000382592	ensembl	human	known	69_37n	nonsense	54	10.00	6	SNP	1.000	A
LATS2	26524	genome.wustl.edu	37	13	21563383	21563383	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:21563383G>A	ENST00000382592.4	-	4	941	c.536C>T	c.(535-537)tCg>tTg	p.S179L	LATS2_ENST00000542899.1_Missense_Mutation_p.S179L|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.S179L(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGACGCAAACGAATCGCCGGT	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	82.0	89.0					13																	21563383		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.536C>T	13.37:g.21563383G>A	ENSP00000372035:p.Ser179Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.S179L	ENST00000382592.4	37	c.536	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100571	0.20552	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.26957	1.7;1.7	5.36	3.55	0.40652	.	0.402673	0.23664	N	0.045783	T	0.24736	0.0600	L	0.52573	1.65	0.09310	N	1	B	0.28880	0.226	B	0.14578	0.011	T	0.12192	-1.0557	10	0.72032	D	0.01	.	15.5085	0.75760	0.0:0.2619:0.738:0.0	.	179	Q9NRM7	LATS2_HUMAN	L	179	ENSP00000372035:S179L;ENSP00000441817:S179L	ENSP00000372035:S179L	S	-	2	0	LATS2	20461383	1.000000	0.71417	0.001000	0.08648	0.017000	0.09413	3.664000	0.54525	0.578000	0.29487	0.555000	0.69702	TCG	LATS2	-	NULL	ENSG00000150457		0.642	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	36	0.00	0	G			21563383	21563383	-1	no_errors	ENST00000382592	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.003	A
LCA5L	150082	genome.wustl.edu	37	21	40783700	40783700	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:40783700T>C	ENST00000358268.2	-	7	1532	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	LCA5L_ENST00000495240.1_5'Flank|LCA5L_ENST00000288350.3_Missense_Mutation_p.N335S|LCA5L_ENST00000380671.2_Missense_Mutation_p.N335S|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	335										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				ACTATAGATGTTTTTAATTTC	0.279																																						dbGAP											0													67.0	68.0	67.0					21																	40783700		2201	4292	6493	-	-	-	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1004A>G	21.37:g.40783700T>C	ENSP00000351008:p.Asn335Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.N335S	ENST00000358268.2	37	c.1004	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152061	0.78001	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	D;D;D	0.84660	-1.88;-1.88;-1.88	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000005	D	0.91300	0.7257	M	0.75615	2.305	0.42683	D	0.993552	D	0.89917	1.0	D	0.85130	0.997	D	0.91358	0.5109	10	0.45353	T	0.12	-38.0467	13.0724	0.59070	0.0:0.0:0.0:1.0	.	335	O95447	LCA5L_HUMAN	S	335	ENSP00000288350:N335S;ENSP00000370046:N335S;ENSP00000351008:N335S	ENSP00000288350:N335S	N	-	2	0	LCA5L	39705570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.639000	0.61361	2.124000	0.65301	0.529000	0.55759	AAC	LCA5L	-	NULL	ENSG00000157578		0.279	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	330	0.30	1	T	NM_152505		40783700	40783700	-1	no_errors	ENST00000288350	ensembl	human	known	69_37n	missense	191	24.21	61	SNP	1.000	C
LCT	3938	genome.wustl.edu	37	2	136569977	136569977	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:136569977C>A	ENST00000264162.2	-	7	2267	c.2257G>T	c.(2257-2259)Gcc>Tcc	p.A753S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	753	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCATTCCCGGCAAGGTATATT	0.448																																						dbGAP											0													94.0	96.0	95.0					2																	136569977		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2257G>T	2.37:g.136569977C>A	ENSP00000264162:p.Ala753Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A753S	ENST00000264162.2	37	c.2257	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857213	0.71834	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.32515	1.45	5.66	2.81	0.32909	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.225797	0.46145	N	0.000304	T	0.25494	0.0620	N	0.26130	0.795	0.32276	N	0.568223	P	0.49635	0.926	P	0.49561	0.615	T	0.29852	-0.9998	10	0.72032	D	0.01	-13.2052	5.8126	0.18475	0.2827:0.5805:0.0:0.1369	.	753	P09848	LPH_HUMAN	S	753;185	ENSP00000264162:A753S	ENSP00000264162:A753S	A	-	1	0	LCT	136286447	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.893000	0.56243	0.703000	0.31848	0.655000	0.94253	GCC	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.448	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	134	0.00	0	C	NM_002299		136569977	136569977	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	90	26.83	33	SNP	1.000	A
LCTL	197021	genome.wustl.edu	37	15	66856310	66856310	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:66856310C>T	ENST00000341509.5	-	3	440	c.309G>A	c.(307-309)ctG>ctA	p.L103L	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	103					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTTGACGTGCAGTTCCCTCA	0.627																																						dbGAP											0													144.0	124.0	131.0					15																	66856310		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.309G>A	15.37:g.66856310C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQY0	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L103	ENST00000341509.5	37	c.309	CCDS10220.1	15																																																																																			LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000188501		0.627	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2	309	0.00	0	C	NM_207338		66856310	66856310	-1	no_errors	ENST00000341509	ensembl	human	known	69_37n	silent	184	13.21	28	SNP	0.851	T
LDLRAP1	26119	genome.wustl.edu	37	1	25880524	25880524	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:25880524C>T	ENST00000374338.4	+	2	319	c.200C>T	c.(199-201)tCg>tTg	p.S67L	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	67	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGCTGTCGGCCGCCGCC	0.632																																						dbGAP											0													64.0	56.0	59.0					1																	25880524		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.200C>T	1.37:g.25880524C>T	ENSP00000363458:p.Ser67Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.S67L	ENST00000374338.4	37	c.200	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.549807	0.96501	.	.	ENSG00000157978	ENST00000374338	T	0.61980	0.06	5.59	5.59	0.84812	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	L	0.57536	1.79	0.80722	D	1	P	0.52170	0.951	P	0.50490	0.642	T	0.70868	-0.4755	10	0.52906	T	0.07	-10.6902	18.5826	0.91177	0.0:1.0:0.0:0.0	.	67	Q5SW96	ARH_HUMAN	L	67	ENSP00000363458:S67L	ENSP00000363458:S67L	S	+	2	0	LDLRAP1	25753111	1.000000	0.71417	0.958000	0.39756	0.802000	0.45316	6.008000	0.70739	2.642000	0.89623	0.561000	0.74099	TCG	LDLRAP1	-	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000157978		0.632	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	73	0.00	0	C	NM_015627		25880524	25880524	+1	no_errors	ENST00000374338	ensembl	human	known	69_37n	missense	25	31.58	12	SNP	1.000	T
LDLRAD1	388633	genome.wustl.edu	37	1	54477926	54477926	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:54477926T>C	ENST00000371360.1	-	4	247	c.230A>G	c.(229-231)aAc>aGc	p.N77S	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.N38S|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.N34S|LDLRAD1_ENST00000371362.3_Intron	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	77	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						GCCTGTCCTGTTTGTCAGTGT	0.572																																						dbGAP											0													155.0	130.0	138.0					1																	54477926		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.230A>G	1.37:g.54477926T>C	ENSP00000360411:p.Asn77Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.N77S	ENST00000371360.1	37	c.230	CCDS30725.1	1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.572207	0.28092	.	.	ENSG00000203985	ENST00000371360;ENST00000545928;ENST00000420619	D	0.95307	-3.67	3.86	3.86	0.44501	.	0.000000	0.56097	D	0.000025	D	0.95046	0.8396	L	0.57536	1.79	0.38274	D	0.94224	D;D	0.89917	0.998;1.0	D;D	0.83275	0.975;0.996	D	0.93060	0.6473	10	0.08381	T	0.77	-22.8563	10.5857	0.45282	0.0:0.0:0.0:1.0	.	34;77	B7ZME3;Q5T700	.;LRAD1_HUMAN	S	77;34;38	ENSP00000360411:N77S	ENSP00000360411:N77S	N	-	2	0	LDLRAD1	54250514	1.000000	0.71417	0.914000	0.36105	0.077000	0.17291	4.272000	0.58908	1.747000	0.51819	0.533000	0.62120	AAC	LDLRAD1	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000203985		0.572	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD1	HGNC	protein_coding	OTTHUMT00000023243.1	165	0.00	0	T	NM_001010978		54477926	54477926	-1	no_errors	ENST00000371360	ensembl	human	known	69_37n	missense	87	14.71	15	SNP	0.990	C
LEKR1	389170	genome.wustl.edu	37	3	156710888	156710888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:156710888G>T	ENST00000470811.1	+	10	1354	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	LEKR1_ENST00000356539.4_Nonsense_Mutation_p.E311*			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	7										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAAGGAAAAAGAAGACTCTTT	0.313																																						dbGAP											0													50.0	53.0	52.0					3																	156710888		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.19G>T	3.37:g.156710888G>T	ENSP00000418214:p.Glu7*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	superfamily_Ribosomal_L29	p.E311*	ENST00000470811.1	37	c.931		3	.	.	.	.	.	.	.	.	.	.	G	37	6.265938	0.97426	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	.	.	.	4.77	4.77	0.60923	.	0.000000	0.48286	D	0.000189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.3285	16.3842	0.83495	0.0:0.0:1.0:0.0	.	.	.	.	X	7;311	.	ENSP00000348936:E311X	E	+	1	0	LEKR1	158193582	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.745000	0.68672	2.199000	0.70637	0.585000	0.79938	GAA	LEKR1	-	NULL	ENSG00000178110		0.313	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	196	0.00	0	G	NM_001004316		156710888	156710888	+1	no_errors	ENST00000356539	ensembl	human	known	69_37n	nonsense	116	23.68	36	SNP	1.000	T
LEPR	3953	genome.wustl.edu	37	1	66058356	66058356	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:66058356G>A	ENST00000349533.6	+	6	696	c.511G>A	c.(511-513)Gat>Aat	p.D171N	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.D171N|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.D171N|LEPR_ENST00000344610.8_Missense_Mutation_p.D171N|LEPR_ENST00000371060.3_Missense_Mutation_p.D171N	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTGTTAGAAGATTCACCTCT	0.363																																						dbGAP											0													110.0	103.0	105.0					1																	66058356		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.511G>A	1.37:g.66058356G>A	ENSP00000330393:p.Asp171Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D171N	ENST00000349533.6	37	c.511	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627447	0.28978	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.59906	0.27;0.23;0.28;0.23;0.27	5.81	4.89	0.63831	.	0.697150	0.14897	N	0.292002	T	0.33556	0.0867	L	0.34521	1.04	0.80722	D	1	B;B;B	0.22414	0.006;0.011;0.069	B;B;B	0.23419	0.02;0.028;0.046	T	0.19128	-1.0315	10	0.44086	T	0.13	-4.3193	14.2777	0.66191	0.0721:0.0:0.9279:0.0	.	171;171;171	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	N	171	ENSP00000340884:D171N;ENSP00000330393:D171N;ENSP00000360099:D171N;ENSP00000360098:D171N;ENSP00000360097:D171N	ENSP00000340884:D171N	D	+	1	0	LEPR	65830944	1.000000	0.71417	0.612000	0.29024	0.111000	0.19643	6.617000	0.74210	1.461000	0.47929	0.650000	0.86243	GAT	LEPR	-	NULL	ENSG00000116678		0.363	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	225	0.00	0	G	NM_002303		66058356	66058356	+1	no_errors	ENST00000349533	ensembl	human	known	69_37n	missense	136	16.56	27	SNP	0.975	A
LEPREL1	55214	genome.wustl.edu	37	3	189700850	189700850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:189700850G>A	ENST00000319332.5	-	8	1506	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R256*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	437					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTTAGGTCTCGATCTATCTTG	0.448																																						dbGAP											0													196.0	187.0	190.0					3																	189700850		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1309C>T	3.37:g.189700850G>A	ENSP00000316881:p.Arg437*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonsense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R437*	ENST00000319332.5	37	c.1309	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.049346	0.98627	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.25	1.81	0.25067	.	0.421919	0.24368	N	0.039138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.0797	13.1274	0.59363	0.0:0.0:0.4594:0.5406	.	.	.	.	X	437;256	.	.	R	-	1	2	LEPREL1	191183544	0.156000	0.22821	0.944000	0.38274	0.978000	0.69477	0.284000	0.18864	0.646000	0.30693	0.637000	0.83480	CGA	LEPREL1	-	NULL	ENSG00000090530		0.448	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	295	0.00	0	G	NM_018192		189700850	189700850	-1	no_errors	ENST00000319332	ensembl	human	known	69_37n	nonsense	293	12.76	43	SNP	0.474	A
LEPREL4	10609	genome.wustl.edu	37	17	39966001	39966001	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:39966001G>A	ENST00000355468.3	-	5	1339	c.873C>T	c.(871-873)ttC>ttT	p.F291F	LEPREL4_ENST00000393928.1_Silent_p.F291F			Q92791	SC65_HUMAN	leprecan-like 4	291					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGGTGGCCACGAACTTGTCCA	0.577																																						dbGAP											0													108.0	91.0	97.0					17																	39966001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.873C>T	17.37:g.39966001G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI6|Q9H4F6	Silent	SNP	NULL	p.F291	ENST00000355468.3	37	c.873	CCDS11408.1	17																																																																																			LEPREL4	-	NULL	ENSG00000141696		0.577	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL4	HGNC	protein_coding	OTTHUMT00000257439.2	68	0.00	0	G			39966001	39966001	-1	no_errors	ENST00000355468	ensembl	human	known	69_37n	silent	48	18.64	11	SNP	0.962	A
LETM1	3954	genome.wustl.edu	37	4	1818528	1818528	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:1818528G>A	ENST00000302787.2	-	12	2153	c.1857C>T	c.(1855-1857)atC>atT	p.I619I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	619					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCAAGCCATCGATCTGCCCGA	0.557																																						dbGAP											0													129.0	106.0	114.0					4																	1818528		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1857C>T	4.37:g.1818528G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DED2|Q9UF65	Silent	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.I619	ENST00000302787.2	37	c.1857	CCDS3355.1	4																																																																																			LETM1	-	NULL	ENSG00000168924		0.557	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	115	0.00	0	G			1818528	1818528	-1	no_errors	ENST00000302787	ensembl	human	known	69_37n	silent	51	19.05	12	SNP	0.005	A
LGALS14	56891	genome.wustl.edu	37	19	40197855	40197855	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40197855A>G	ENST00000392052.3	+	3	353	c.130A>G	c.(130-132)Atg>Gtg	p.M44V	LGALS14_ENST00000360675.3_Missense_Mutation_p.M73V	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	44	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CTACACTGGGATGGATGAGGA	0.498																																						dbGAP											0													177.0	137.0	151.0					19																	40197855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.130A>G	19.37:g.40197855A>G	ENSP00000375905:p.Met44Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.M73V	ENST00000392052.3	37	c.217	CCDS46073.1	19	.	.	.	.	.	.	.	.	.	.	.	3.095	-0.186018	0.06340	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.04917	3.53;3.53	1.05	1.05	0.20165	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.11537	0.0281	M	0.77616	2.38	0.09310	N	1	B;B	0.29270	0.24;0.121	B;B	0.39771	0.309;0.145	T	0.29912	-0.9996	9	0.40728	T	0.16	.	4.3199	0.11011	1.0:0.0:0.0:0.0	.	44;73	Q8TCE9;A8MPV8	PPL13_HUMAN;.	V	44;73	ENSP00000375905:M44V;ENSP00000353893:M73V	ENSP00000353893:M73V	M	+	1	0	LGALS14	44889695	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.059000	0.03479	0.728000	0.32382	0.260000	0.18958	ATG	LGALS14	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000006659		0.498	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS14	HGNC	protein_coding	OTTHUMT00000465222.1	348	0.00	0	A	NM_020129		40197855	40197855	+1	no_errors	ENST00000360675	ensembl	human	known	69_37n	missense	216	23.40	66	SNP	0.002	G
LGI1	9211	genome.wustl.edu	37	10	95537158	95537158	+	Missense_Mutation	SNP	G	G	T	rs145675377		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:95537158G>T	ENST00000371418.4	+	3	570	c.310G>T	c.(310-312)Gat>Tat	p.D104Y	LGI1_ENST00000371413.3_Missense_Mutation_p.D104Y|LGI1_ENST00000542308.1_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	104					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAACTCCTTTGATGTGATCAG	0.348																																						dbGAP											0													121.0	110.0	114.0					10																	95537158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.310G>T	10.37:g.95537158G>T	ENSP00000360472:p.Asp104Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.D104Y	ENST00000371418.4	37	c.310	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760834	0.89932	.	.	ENSG00000108231	ENST00000371418;ENST00000371413	D;D	0.89939	-2.59;-2.59	6.17	6.17	0.99709	.	0.049811	0.85682	D	0.000000	D	0.93605	0.7958	L	0.56769	1.78	0.80722	D	1	D;D	0.63880	0.993;0.98	D;P	0.66716	0.946;0.871	D	0.92939	0.6370	10	0.66056	D	0.02	-14.4967	20.8794	0.99867	0.0:0.0:1.0:0.0	.	104;104	O95970-2;O95970	.;LGI1_HUMAN	Y	104	ENSP00000360472:D104Y;ENSP00000360467:D104Y	ENSP00000360467:D104Y	D	+	1	0	LGI1	95527148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.581000	0.82535	2.941000	0.99782	0.655000	0.94253	GAT	LGI1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000108231		0.348	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	186	0.00	0	G	NM_005097		95537158	95537158	+1	no_errors	ENST00000371418	ensembl	human	known	69_37n	missense	138	28.12	54	SNP	1.000	T
LGI2	55203	genome.wustl.edu	37	4	25026467	25026467	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:25026467G>A	ENST00000382114.4	-	4	573	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	130						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CGGAGGCCACGAAAGGCATTT	0.378																																						dbGAP											0													125.0	119.0	121.0					4																	25026467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.388C>T	4.37:g.25026467G>A	ENSP00000371548:p.Arg130Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R130C	ENST00000382114.4	37	c.388	CCDS3431.1	4	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531156	0.85706	.	.	ENSG00000153012	ENST00000382114	T	0.58210	0.35	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	L	0.28504	0.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66814	-0.5828	10	0.87932	D	0	-13.1416	20.4123	0.99019	0.0:0.0:1.0:0.0	.	130	Q8N0V4	LGI2_HUMAN	C	130	ENSP00000371548:R130C	ENSP00000371548:R130C	R	-	1	0	LGI2	24635565	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.392000	0.66272	2.824000	0.97209	0.655000	0.94253	CGT	LGI2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000153012		0.378	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	395	0.00	0	G			25026467	25026467	-1	no_errors	ENST00000382114	ensembl	human	known	69_37n	missense	267	14.42	45	SNP	1.000	A
LGR4	55366	genome.wustl.edu	37	11	27405888	27405888	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:27405888C>T	ENST00000379214.4	-	6	1127	c.684G>A	c.(682-684)gaG>gaA	p.E228E	LGR4_ENST00000389858.4_Silent_p.E204E	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	228					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTACAAGGTCTCCAGGTTAT	0.323																																						dbGAP											0													133.0	144.0	140.0					11																	27405888		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.684G>A	11.37:g.27405888C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.E228	ENST00000379214.4	37	c.684	CCDS31449.1	11																																																																																			LGR4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000205213		0.323	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	390	0.00	0	C	NM_018490		27405888	27405888	-1	no_errors	ENST00000379214	ensembl	human	known	69_37n	silent	202	16.53	40	SNP	1.000	T
LHCGR	3973	genome.wustl.edu	37	2	48915276	48915276	+	Nonsense_Mutation	SNP	G	G	A	rs121912524		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:48915276G>A	ENST00000294954.7	-	11	1681	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.R492*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Missense_Mutation_p.S317L|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.R527*	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	554					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.R554*(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCTGGGTTTCGAACTGCAAAA	0.368																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)	GRCh37	CM960940	LHCGR	M	rs121912524						97.0	99.0	99.0					2																	48915276		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1660C>T	2.37:g.48915276G>A	ENSP00000294954:p.Arg554*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.R554*	ENST00000294954.7	37	c.1660	CCDS1842.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.3|29.3	4.992985|4.992985	0.93167|0.93167	.|.	.|.	ENSG00000138039|ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626|ENST00000401907	.|T	.|0.76060	.|-0.99	5.68|5.68	3.74|3.74	0.42951|0.42951	.|.	0.241683|.	0.44285|.	D|.	0.000473|.	.|T	.|0.77831	.|0.4189	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81739	.|-0.0795	.|4	.|.	.|.	.|.	.|.	13.5344|13.5344	0.61639|0.61639	0.0:0.0:0.7171:0.2829|0.0:0.0:0.7171:0.2829	.|.	.|.	.|.	.|.	X|L	492;554;527|317	.|ENSP00000385406:S317L	.|.	R|S	-|-	1|2	2|0	LHCGR|LHCGR	48768780|48768780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.580000|5.580000	0.67464|0.67464	1.373000|1.373000	0.46208|0.46208	0.585000|0.585000	0.79938|0.79938	CGA|TCG	LHCGR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000138039		0.368	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	355	0.00	0	G	NM_000233.3		48915276	48915276	-1	no_errors	ENST00000294954	ensembl	human	known	69_37n	nonsense	238	28.96	97	SNP	1.000	A
LHFPL5	222662	genome.wustl.edu	37	6	35773673	35773673	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:35773673G>A	ENST00000373853.1	+	1	604	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LHFPL5_ENST00000360215.1_Missense_Mutation_p.E76K			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	76					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCTGTCCTCCGAGCTCATCTG	0.577																																						dbGAP											0													222.0	208.0	213.0					6																	35773673		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.226G>A	6.37:g.35773673G>A	ENSP00000362960:p.Glu76Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX66	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.E76K	ENST00000373853.1	37	c.226	CCDS4812.1	6	.	.	.	.	.	.	.	.	.	.	g	21.3	4.133397	0.77662	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.72615	-0.67;-0.67	5.57	5.57	0.84162	.	0.044201	0.85682	D	0.000000	T	0.80449	0.4625	M	0.83852	2.665	0.46749	D	0.999181	D	0.89917	1.0	D	0.81914	0.995	T	0.76583	-0.2906	10	0.10636	T	0.68	-35.0201	19.6056	0.95580	0.0:0.0:1.0:0.0	.	76	Q8TAF8	TMHS_HUMAN	K	76	ENSP00000362960:E76K;ENSP00000353346:E76K	ENSP00000353346:E76K	E	+	1	0	LHFPL5	35881651	1.000000	0.71417	0.973000	0.42090	0.075000	0.17131	7.797000	0.85911	2.640000	0.89533	0.537000	0.68136	GAG	LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000197753		0.577	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	176	0.00	0	G	NM_182548		35773673	35773673	+1	no_errors	ENST00000360215	ensembl	human	known	69_37n	missense	99	13.91	16	SNP	0.999	A
LHX4	89884	genome.wustl.edu	37	1	180217510	180217510	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:180217510A>C	ENST00000263726.2	+	2	411	c.167A>C	c.(166-168)aAg>aCg	p.K56T		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	56	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TCCTGCCTCAAGTGTGCAGAC	0.572																																						dbGAP											0													71.0	63.0	66.0					1																	180217510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.167A>C	1.37:g.180217510A>C	ENSP00000263726:p.Lys56Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.K56T	ENST00000263726.2	37	c.167	CCDS1338.1	1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793162	0.50102	.	.	ENSG00000121454	ENST00000263726	D	0.89746	-2.56	5.41	5.41	0.78517	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.41492	1.28	0.80722	D	1	P	0.49185	0.92	P	0.50791	0.65	D	0.88573	0.3131	10	0.46703	T	0.11	.	14.4357	0.67279	1.0:0.0:0.0:0.0	.	56	Q969G2	LHX4_HUMAN	T	56	ENSP00000263726:K56T	ENSP00000263726:K56T	K	+	2	0	LHX4	178484133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.147000	0.94646	2.042000	0.60477	0.533000	0.62120	AAG	LHX4	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000121454		0.572	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2	103	0.96	1	A	NM_033343		180217510	180217510	+1	no_errors	ENST00000263726	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	1.000	C
LIFR	3977	genome.wustl.edu	37	5	38493749	38493749	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:38493749C>A	ENST00000263409.4	-	14	2186	c.2024G>T	c.(2023-2025)aGa>aTa	p.R675I	LIFR_ENST00000453190.2_Missense_Mutation_p.R675I|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	675	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGGAACTTTTCTCCAGTCCAT	0.423			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	dbGAP		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													156.0	143.0	148.0					5																	38493749		2203	4300	6503	-	-	-	SO:0001583	missense	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2024G>T	5.37:g.38493749C>A	ENSP00000263409:p.Arg675Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R675I	ENST00000263409.4	37	c.2024	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666104	0.47677	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.55588	0.51;0.51	5.68	0.174	0.15040	Fibronectin, type III (1);	0.498544	0.24713	N	0.036216	T	0.22399	0.0540	N	0.05230	-0.09	0.44966	D	0.997983	B	0.02656	0.0	B	0.01281	0.0	T	0.03981	-1.0987	10	0.16420	T	0.52	-15.4875	4.2683	0.10775	0.1396:0.2983:0.0:0.5621	.	675	P42702	LIFR_HUMAN	I	675	ENSP00000263409:R675I;ENSP00000398368:R675I	ENSP00000263409:R675I	R	-	2	0	LIFR	38529506	0.991000	0.36638	0.529000	0.27951	0.931000	0.56810	0.616000	0.24344	-0.132000	0.11557	0.591000	0.81541	AGA	LIFR	-	superfamily_Fibronectin_type3	ENSG00000113594		0.423	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	224	0.44	1	C	NM_002310		38493749	38493749	-1	no_errors	ENST00000263409	ensembl	human	known	69_37n	missense	204	13.56	32	SNP	0.953	A
LILRA1	11024	genome.wustl.edu	37	19	55106251	55106251	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55106251G>T	ENST00000251372.3	+	4	374	c.192G>T	c.(190-192)aaG>aaT	p.K64N	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Missense_Mutation_p.K64N|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	64	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ATAGAGAAAAGAAAACAGCAC	0.572																																						dbGAP											0													134.0	127.0	130.0					19																	55106251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.192G>T	19.37:g.55106251G>T	ENSP00000251372:p.Lys64Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.K64N	ENST00000251372.3	37	c.192	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223560	0.09863	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00711	5.8;5.8	1.62	-0.943	0.10395	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.376940	0.04897	N	0.450533	T	0.00845	0.0028	L	0.33485	1.01	0.09310	N	1	B;B	0.23442	0.085;0.001	B;B	0.23275	0.045;0.005	T	0.47341	-0.9125	10	0.54805	T	0.06	.	4.3215	0.11020	0.5019:0.0:0.4981:0.0	.	64;64	O75019-2;O75019	.;LIRA1_HUMAN	N	64	ENSP00000251372:K64N;ENSP00000413715:K64N	ENSP00000251372:K64N	K	+	3	2	LILRA1	59798063	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.554000	0.06006	-0.251000	0.09542	-1.021000	0.02439	AAG	LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	ENSG00000104974		0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	251	0.00	0	G	NM_006863		55106251	55106251	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	missense	134	11.18	17	SNP	0.001	T
LILRA1	11024	genome.wustl.edu	37	19	55107211	55107211	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55107211C>A	ENST00000251372.3	+	6	951	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	257	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CAGATTTGTTCTGTATAAGGA	0.592																																						dbGAP											0													139.0	133.0	135.0					19																	55107211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.769C>A	19.37:g.55107211C>A	ENSP00000251372:p.Leu257Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.L257M	ENST00000251372.3	37	c.769	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282999	0.23392	.	.	ENSG00000104974	ENST00000251372	T	0.17691	2.26	1.58	0.408	0.16377	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.29165	N	0.012948	T	0.47340	0.1440	H	0.97077	3.935	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34601	-0.9822	10	0.87932	D	0	.	4.3636	0.11213	0.0:0.777:0.0:0.223	.	257	O75019	LIRA1_HUMAN	M	257	ENSP00000251372:L257M	ENSP00000251372:L257M	L	+	1	2	LILRA1	59799023	0.002000	0.14202	0.009000	0.14445	0.004000	0.04260	0.389000	0.20751	0.199000	0.20427	0.194000	0.17425	CTG	LILRA1	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.592	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	188	0.00	0	C	NM_006863		55107211	55107211	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	missense	93	19.13	22	SNP	0.011	A
LIMA1	51474	genome.wustl.edu	37	12	50594643	50594643	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50594643C>T	ENST00000341247.4	-	7	1038	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.E297K|LIMA1_ENST00000552491.1_5'Flank|LIMA1_ENST00000552909.1_Missense_Mutation_p.E137K|LIMA1_ENST00000552783.1_Missense_Mutation_p.E137K|LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.E137K	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	297					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTTTGATTTCGCCACCACTG	0.388																																						dbGAP											0													183.0	183.0	183.0					12																	50594643		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.889G>A	12.37:g.50594643C>T	ENSP00000340184:p.Glu297Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E297K	ENST00000341247.4	37	c.889	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979421	0.18812	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;D;T;T;T	0.84660	-1.47;-1.88;-1.14;-1.46;-1.47	4.88	4.0	0.46444	.	0.153556	0.47093	D	0.000241	D	0.90293	0.6964	M	0.69823	2.125	0.46336	D	0.998998	D;D;B	0.89917	1.0;1.0;0.002	D;D;B	0.83275	0.996;0.994;0.002	D	0.89500	0.3763	9	.	.	.	.	10.5011	0.44806	0.0:0.9087:0.0:0.0913	.	306;297;137	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	K	137;297;297;137;137;216	ENSP00000450266:E137K;ENSP00000378400:E297K;ENSP00000340184:E297K;ENSP00000448779:E137K;ENSP00000450087:E137K	.	E	-	1	0	LIMA1	48880910	0.998000	0.40836	1.000000	0.80357	0.003000	0.03518	3.978000	0.56881	1.284000	0.44531	-0.145000	0.13849	GAA	LIMA1	-	NULL	ENSG00000050405		0.388	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	154	0.00	0	C	NM_016357		50594643	50594643	-1	no_errors	ENST00000394943	ensembl	human	known	69_37n	missense	143	21.43	39	SNP	0.999	T
LIMCH1	22998	genome.wustl.edu	37	4	41694357	41694357	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:41694357G>A	ENST00000313860.7	+	26	3236	c.3182G>A	c.(3181-3183)cGa>cAa	p.R1061Q	LIMCH1_ENST00000396595.3_Missense_Mutation_p.R880Q|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R875Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R1035Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R1047Q|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R888Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R875Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R894Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R1034Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R958Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R868Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R1445Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1061	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTTAGGATTCGAAATGGTCTC	0.428																																						dbGAP											0													218.0	188.0	198.0					4																	41694357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.3182G>A	4.37:g.41694357G>A	ENSP00000316891:p.Arg1061Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R1445Q	ENST00000313860.7	37	c.4334	CCDS33977.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.713915|3.713915	0.68730|0.68730	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405	.|D;D;D;D;D;D;D;D;D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	4.99|4.99	4.13|4.13	0.48395|0.48395	.|Zinc finger, LIM-type (4);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.91978|0.91978	0.7459|0.7459	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.978;1.0;1.0;0.998;1.0;1.0;0.999;0.998;0.999	.|D;D;D;B;D;D;D;D;D;D;D;D	.|0.91635	.|0.997;0.999;0.993;0.442;0.999;0.999;0.991;0.991;0.999;0.995;0.991;0.993	D|D	0.92484|0.92484	0.5995|0.5995	5|10	.|0.87932	.|D	.|0	-9.1187|-9.1187	13.9268|13.9268	0.63968|0.63968	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|875;811;894;958;868;880;1445;888;1047;1034;1035;1061	.|E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	K|Q	895|888;1034;1035;1061;958;1047;1445;875;1444;875;894;880;868;387	.|ENSP00000425222:R888Q;ENSP00000424825:R1034Q;ENSP00000424645:R1035Q;ENSP00000316891:R1061Q;ENSP00000427045:R958Q;ENSP00000424437:R1047Q;ENSP00000425631:R1445Q;ENSP00000421242:R875Q;ENSP00000426334:R875Q;ENSP00000422864:R894Q;ENSP00000379840:R880Q;ENSP00000371172:R868Q	.|ENSP00000316891:R1061Q	E|R	+|+	1|2	0|0	LIMCH1|LIMCH1	41389114|41389114	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.990000|5.990000	0.70595|0.70595	2.590000|2.590000	0.87494|0.87494	0.557000|0.557000	0.71058|0.71058	GAA|CGA	LIMCH1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000064042		0.428	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	394	0.00	0	G	NM_014988		41694357	41694357	+1	no_errors	ENST00000503057	ensembl	human	known	69_37n	missense	276	15.08	49	SNP	1.000	A
SACM1L	22908	genome.wustl.edu	37	3	45730519	45730519	+	5'Flank	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:45730519C>A	ENST00000389061.5	+	0	0				SACM1L_ENST00000541314.1_5'Flank|LIMD1-AS1_ENST00000427644.1_RNA|LIMD1-AS1_ENST00000429798.1_RNA|SACM1L_ENST00000418611.1_5'Flank	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		aacctagaatcttctgatccg	0.488																																						dbGAP											0													71.0	64.0	66.0					3																	45730519		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653		3.37:g.45730519C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	RNA	SNP	-	NULL	ENST00000389061.5	37	NULL	CCDS33745.1	3																																																																																			LIMD1-AS1	-	-	ENSG00000230530		0.488	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1-AS1	HGNC	protein_coding	OTTHUMT00000345065.2	83	0.00	0	C	NM_014016		45730519	45730519	-1	no_errors	ENST00000429798	ensembl	human	known	69_37n	rna	56	12.50	8	SNP	1.000	A
LIN28B	389421	genome.wustl.edu	37	6	105526352	105526352	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:105526352G>T	ENST00000345080.4	+	4	650	c.447G>T	c.(445-447)aaG>aaT	p.K149N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	149					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CTCAGCCAAAGAAGTGCCATT	0.463																																						dbGAP											0													136.0	120.0	125.0					6																	105526352		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.447G>T	6.37:g.105526352G>T	ENSP00000344401:p.Lys149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,prints_CSP_DNA-bd,pfscan_Znf_CCHC	p.K149N	ENST00000345080.4	37	c.447	CCDS34504.1	6	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735750	0.69189	.	.	ENSG00000187772	ENST00000345080	.	.	.	6.02	6.02	0.97574	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71178	-0.4669	9	0.56958	D	0.05	-16.6471	13.7	0.62602	0.07:0.0:0.93:0.0	.	149	Q6ZN17	LN28B_HUMAN	N	149	.	ENSP00000344401:K149N	K	+	3	2	LIN28B	105633045	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.757000	0.68766	2.865000	0.98341	0.655000	0.94253	AAG	LIN28B	-	superfamily_Znf_CCHC	ENSG00000187772		0.463	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28B	HGNC	protein_coding	OTTHUMT00000041646.2	171	0.00	0	G	NM_001004317		105526352	105526352	+1	no_errors	ENST00000345080	ensembl	human	known	69_37n	missense	107	34.36	56	SNP	1.000	T
LINC00283	100874057	genome.wustl.edu	37	13	103396307	103396307	+	RNA	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103396307A>C	ENST00000430111.1	+	0	680									long intergenic non-protein coding RNA 283																		TTCCTCTGTAATATGACCATC	0.373																																						dbGAP											0													122.0	97.0	105.0					13																	103396307		692	1590	2282	-	-	-			0					13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103396307A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430111.1	37	NULL		13																																																																																			LINC00283	-	-	ENSG00000231633		0.373	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	LINC00283	HGNC	antisense	OTTHUMT00000045714.1	367	0.00	0	A			103396307	103396307	+1	no_errors	ENST00000430111	ensembl	human	known	69_37n	rna	183	25.61	63	SNP	0.000	C
LINC00283	100874057	genome.wustl.edu	37	13	103396928	103396928	+	RNA	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103396928T>G	ENST00000430111.1	+	0	1301									long intergenic non-protein coding RNA 283																		TTGCTTTGTTTTTTGCACTAT	0.378																																						dbGAP											0													138.0	114.0	122.0					13																	103396928		692	1590	2282	-	-	-			0					13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103396928T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430111.1	37	NULL		13																																																																																			LINC00283	-	-	ENSG00000231633		0.378	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	LINC00283	HGNC	antisense	OTTHUMT00000045714.1	449	0.00	0	T			103396928	103396928	+1	no_errors	ENST00000430111	ensembl	human	known	69_37n	rna	171	32.41	82	SNP	0.001	G
LINC00299	339789	genome.wustl.edu	37	2	8439870	8439870	+	lincRNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:8439870C>T	ENST00000442956.1	-	0	506							Q6ZSB3	CB046_HUMAN	long intergenic non-protein coding RNA 299																		acatcgaagtcgtgggtaaaa	0.453																																						dbGAP											0													185.0	157.0	166.0					2																	8439870		692	1591	2283	-	-	-			0			AK127578		2p25.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000236790	ENSG00000236790		"""Long non-coding RNAs"""	27940	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 46"", ""non-protein coding RNA 299"""	C2orf46, NCRNA00299		12477932	Standard	NR_034135		Approved	FLJ45673	uc002qyy.1	Q6ZSB3	OTTHUMG00000112455		2.37:g.8439870C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000442956.1	37	NULL		2																																																																																			LINC00299	-	-	ENSG00000236790		0.453	LINC00299-001	KNOWN	basic	lincRNA	LINC00299	HGNC	lincRNA	OTTHUMT00000231926.3	300	0.00	0	C	NR_034135		8439870	8439870	-1	no_errors	ENST00000430192	ensembl	human	known	69_37n	rna	206	37.72	126	SNP	0.000	T
LINC00477	144360	genome.wustl.edu	37	12	24736964	24736964	+	lincRNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:24736964G>T	ENST00000483544.1	-	0	138					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											GGAAGAAAAAGAAAAGGAAAG	0.498																																						dbGAP											0													84.0	94.0	91.0					12																	24736964		2203	4300	6503	-	-	-			0			AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736964G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000483544.1	37	NULL		12																																																																																			LINC00477	-	-	ENSG00000197503		0.498	LINC00477-001	KNOWN	basic	lincRNA	LINC00477	HGNC	lincRNA	OTTHUMT00000355725.1	139	0.00	0	G	NM_144667		24736964	24736964	-1	no_errors	ENST00000483544	ensembl	human	known	69_37n	rna	82	37.40	49	SNP	0.012	T
LINGO2	158038	genome.wustl.edu	37	9	27949965	27949965	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:27949965C>A	ENST00000379992.2	-	6	1154	c.705G>T	c.(703-705)tgG>tgT	p.W235C	LINGO2_ENST00000308675.3_Missense_Mutation_p.W235C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	235						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGTAAAGGCCAATAGTCAA	0.453																																						dbGAP											0													145.0	142.0	143.0					9																	27949965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.705G>T	9.37:g.27949965C>A	ENSP00000369328:p.Trp235Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W235C	ENST00000379992.2	37	c.705	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862173	0.51482	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.56275	0.47;0.47	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	N	0.17082	0.46	0.80722	D	1	P	0.50528	0.936	P	0.49361	0.608	T	0.36261	-0.9755	9	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	235	Q7L985	LIGO2_HUMAN	C	235	ENSP00000369328:W235C;ENSP00000310126:W235C	.	W	-	3	0	LINGO2	27939965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	TGG	LINGO2	-	NULL	ENSG00000174482		0.453	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	257	0.00	0	C	NM_152570		27949965	27949965	-1	no_errors	ENST00000308675	ensembl	human	known	69_37n	missense	155	31.11	70	SNP	1.000	A
LINGO4	339398	genome.wustl.edu	37	1	151774544	151774544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151774544C>A	ENST00000368820.3	-	2	1574	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	213						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATATCCAGTTCTCTAAGCCTT	0.647																																						dbGAP											0													39.0	46.0	44.0					1																	151774544		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.637G>T	1.37:g.151774544C>A	ENSP00000357810:p.Glu213*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E213*	ENST00000368820.3	37	c.637	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.219859	0.98712	.	.	ENSG00000213171	ENST00000368820	.	.	.	5.13	5.13	0.70059	.	0.000000	0.49916	D	0.000139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	16.1232	0.81375	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000357810:E213X	E	-	1	0	LINGO4	150041168	0.900000	0.30661	0.981000	0.43875	0.174000	0.22865	2.202000	0.42743	2.681000	0.91329	0.462000	0.41574	GAA	LINGO4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000213171		0.647	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	76	0.00	0	C	XM_291387		151774544	151774544	-1	no_errors	ENST00000368820	ensembl	human	known	69_37n	nonsense	26	21.21	7	SNP	0.964	A
LIPA	3988	genome.wustl.edu	37	10	91005468	91005468	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:91005468C>T	ENST00000336233.5	-	3	516	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	LIPA_ENST00000456827.1_Missense_Mutation_p.R65Q|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	65					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ATGAGGAATTCGGTTAAGGCA	0.403																																						dbGAP											0													86.0	90.0	89.0					10																	91005468		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.194G>A	10.37:g.91005468C>T	ENSP00000337354:p.Arg65Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.R65Q	ENST00000336233.5	37	c.194	CCDS7401.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324881	0.81580	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.6	4.68	0.58851	Partial AB-hydrolase lipase domain (1);	.	.	.	.	D	0.97823	0.9285	H	0.98314	4.2	0.50813	D	0.999898	D	0.67145	0.996	D	0.72625	0.978	D	0.98052	1.0388	9	0.72032	D	0.01	-0.411	11.0712	0.48004	0.0:0.913:0.0:0.087	.	65	P38571	LICH_HUMAN	Q	65	ENSP00000337354:R65Q;ENSP00000413019:R65Q;ENSP00000388415:R65Q;ENSP00000282673:R65Q	ENSP00000282673:R65Q	R	-	2	0	LIPA	90995448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.083000	0.50136	1.488000	0.48433	0.655000	0.94253	CGA	LIPA	-	pfam_AB_hydrolase_lipase	ENSG00000107798		0.403	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	184	0.00	0	C	NM_000235		91005468	91005468	-1	no_errors	ENST00000336233	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	1.000	T
LIPG	9388	genome.wustl.edu	37	18	47113181	47113181	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:47113181G>A	ENST00000261292.4	+	9	1720	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	LIPG_ENST00000427224.2_Missense_Mutation_p.R407H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	481	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTCTGGTTTCGCAAGTGTCGG	0.502																																					Pancreas(126;280 1778 12814 26243 34948)	dbGAP											0													95.0	88.0	90.0					18																	47113181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1442G>A	18.37:g.47113181G>A	ENSP00000261292:p.Arg481His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep,pfscan_LipOase_LH2	p.R481H	ENST00000261292.4	37	c.1442	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477686	0.44044	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.64991	-0.13;-0.13	5.77	-0.499	0.12015	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.786725	0.12510	N	0.462540	T	0.33265	0.0857	N	0.08118	0	0.50632	D	0.999882	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.11767	-1.0574	10	0.44086	T	0.13	-18.1095	1.8052	0.03079	0.4365:0.2839:0.1501:0.1295	.	407;481	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	481;407	ENSP00000261292:R481H;ENSP00000387978:R407H	ENSP00000261292:R481H	R	+	2	0	LIPG	45367179	0.967000	0.33354	0.994000	0.49952	0.993000	0.82548	0.864000	0.27926	0.092000	0.17331	-0.459000	0.05422	CGC	LIPG	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2	ENSG00000101670		0.502	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	339	0.00	0	G	NM_006033		47113181	47113181	+1	no_errors	ENST00000261292	ensembl	human	known	69_37n	missense	232	12.69	34	SNP	0.777	A
LIPT1	51601	genome.wustl.edu	37	2	99778612	99778612	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:99778612C>A	ENST00000393473.2	+	3	416	c.192C>A	c.(190-192)ttC>ttA	p.F64L	LIPT1_ENST00000393477.3_Missense_Mutation_p.F64L|LIPT1_ENST00000393474.3_Missense_Mutation_p.F64L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.F64L|LIPT1_ENST00000340066.1_Missense_Mutation_p.F64L	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	64	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)	p.F64L(1)		large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CAATTCTATTCTTTTGGCAGA	0.393																																					GBM(84;665 1268 21657 25485 30647)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											126.0	114.0	118.0					2																	99778612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.192C>A	2.37:g.99778612C>A	ENSP00000377115:p.Phe64Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ1	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase	p.F64L	ENST00000393473.2	37	c.192	CCDS2039.1	2	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.693186	0.00731	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142	.	.	.	4.91	3.09	0.35607	.	0.115083	0.64402	N	0.000010	T	0.37544	0.1007	L	0.39020	1.185	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.14200	-1.0481	9	0.06099	T	0.92	0.0138	5.5374	0.17020	0.1604:0.6768:0.0:0.1628	.	64	Q9Y234	LIPT_HUMAN	L	64	.	ENSP00000342071:F64L	F	+	3	2	LIPT1	99145044	0.406000	0.25344	0.996000	0.52242	0.319000	0.28217	0.568000	0.23623	0.652000	0.30806	-0.140000	0.14226	TTC	LIPT1	-	tigrfam_LipoylTrfase_LipoateP_Ligase	ENSG00000144182		0.393	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPT1	HGNC	protein_coding	OTTHUMT00000253128.1	198	0.00	0	C	NM_015929		99778612	99778612	+1	no_errors	ENST00000340066	ensembl	human	known	69_37n	missense	203	14.71	35	SNP	0.995	A
LMAN1L	79748	genome.wustl.edu	37	15	75111579	75111579	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:75111579C>A	ENST00000309664.5	+	6	823	c.684C>A	c.(682-684)ttC>ttA	p.F228L	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.F228L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	228	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGAGGTTTCTTTGGGGTCT	0.567																																						dbGAP											0													171.0	169.0	170.0					15																	75111579		2197	4296	6493	-	-	-	SO:0001583	missense	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.684C>A	15.37:g.75111579C>A	ENSP00000310431:p.Phe228Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.F228L	ENST00000309664.5	37	c.684	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121423	0.56613	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.67171	-0.25;-0.25	5.67	4.74	0.60224	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.078542	0.53938	D	0.000041	T	0.77356	0.4118	M	0.87900	2.915	0.50039	D	0.99984	P;D;P;D	0.56968	0.811;0.972;0.885;0.978	P;P;P;P	0.53006	0.489;0.592;0.589;0.715	T	0.80443	-0.1380	9	.	.	.	.	10.9776	0.47475	0.0:0.9124:0.0:0.0876	.	120;228;156;228	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	L	228;120;228	ENSP00000310431:F228L;ENSP00000369031:F228L	.	F	+	3	2	LMAN1L	72898632	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	1.722000	0.38042	1.371000	0.46172	0.591000	0.81541	TTC	LMAN1L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	ENSG00000140506		0.567	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	142	0.00	0	C			75111579	75111579	+1	no_errors	ENST00000309664	ensembl	human	known	69_37n	missense	62	29.55	26	SNP	1.000	A
LMBR1L	55716	genome.wustl.edu	37	12	49499722	49499722	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:49499722G>A	ENST00000267102.8	-	3	518	c.176C>T	c.(175-177)aCc>aTc	p.T59I	LMBR1L_ENST00000547382.1_Missense_Mutation_p.T59I|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000395141.4_Missense_Mutation_p.T54I	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	59	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGTTGACGGTGGCATCTTC	0.557																																						dbGAP											0													160.0	125.0	137.0					12																	49499722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.176C>T	12.37:g.49499722G>A	ENSP00000267102:p.Thr59Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.T59I	ENST00000267102.8	37	c.176	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647747	0.29336	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000395141;ENST00000547675;ENST00000551854;ENST00000551782	T;T;T;T	0.42900	0.98;0.98;1.5;0.96	5.94	5.05	0.67936	LMBR1-like membrane protein (1);	0.188907	0.56097	N	0.000035	T	0.33962	0.0881	L	0.35793	1.09	0.43688	D	0.996134	B;B;B	0.32160	0.358;0.0;0.001	B;B;B	0.36186	0.219;0.002;0.004	T	0.07065	-1.0792	10	0.10111	T	0.7	.	13.8591	0.63548	0.074:0.0:0.926:0.0	.	59;59;54	Q6UX01-3;Q6UX01;Q6UX01-4	.;LMBRL_HUMAN;.	I	59;59;54;59;64;59	ENSP00000267102:T59I;ENSP00000447329:T59I;ENSP00000378573:T54I;ENSP00000447240:T59I	ENSP00000267102:T59I	T	-	2	0	LMBR1L	47785989	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	6.695000	0.74593	1.524000	0.49035	0.561000	0.74099	ACC	LMBR1L	-	pfam_LMBR1-like_membr_prot	ENSG00000139636		0.557	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	84	0.00	0	G	NM_018113		49499722	49499722	-1	no_errors	ENST00000267102	ensembl	human	known	69_37n	missense	81	27.43	31	SNP	0.997	A
LMLN	89782	genome.wustl.edu	37	3	197765639	197765639	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:197765639G>A	ENST00000330198.4	+	0	2091				LMLN_ENST00000420910.2_3'UTR|LMLN-AS1_ENST00000423460.1_RNA	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)						cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GGTAGAAGTGGCATTCCTGGC	0.443																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.*101G>A	3.37:g.197765639G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	RNA	SNP	-	NULL	ENST00000330198.4	37	NULL	CCDS3332.1	3																																																																																			LMLN-AS1	-	-	ENSG00000232832		0.443	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN-AS1	HGNC	protein_coding	OTTHUMT00000339701.1	99	0.00	0	G	NM_033029		197765639	197765639	-1	no_errors	ENST00000423460	ensembl	human	putative	69_37n	rna	90	27.42	34	SNP	0.042	A
LNPEP	4012	genome.wustl.edu	37	5	96364151	96364151	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:96364151C>T	ENST00000231368.5	+	18	3684	c.2992C>T	c.(2992-2994)Cgt>Tgt	p.R998C	LNPEP_ENST00000395770.3_Missense_Mutation_p.R984C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	998					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTCCGGCTTCGTTGTGTCCA	0.448																																						dbGAP											0													138.0	134.0	135.0					5																	96364151		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2992C>T	5.37:g.96364151C>T	ENSP00000231368:p.Arg998Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R998C	ENST00000231368.5	37	c.2992	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407164	0.62399	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.11930	2.73;2.73	6.06	6.06	0.98353	.	0.089333	0.85682	D	0.000000	T	0.36110	0.0955	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.02437	-1.1159	10	0.87932	D	0	.	13.4386	0.61099	0.0:0.9282:0.0:0.0718	.	998	Q9UIQ6	LCAP_HUMAN	C	998;984	ENSP00000231368:R998C;ENSP00000379117:R984C	ENSP00000231368:R998C	R	+	1	0	LNPEP	96389907	0.835000	0.29415	0.200000	0.23457	0.972000	0.66771	2.828000	0.48120	2.871000	0.98454	0.655000	0.94253	CGT	LNPEP	-	NULL	ENSG00000113441		0.448	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	220	0.00	0	C	NM_005575		96364151	96364151	+1	no_errors	ENST00000231368	ensembl	human	known	69_37n	missense	202	14.04	33	SNP	0.922	T
LONRF2	164832	genome.wustl.edu	37	2	100911961	100911961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:100911961G>A	ENST00000393437.3	-	8	2170	c.1531C>T	c.(1531-1533)Cga>Tga	p.R511*	LONRF2_ENST00000409647.1_Nonsense_Mutation_p.R268*	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	511							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.R511*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGCAAATATCGAAATATTAAT	0.333																																						dbGAP											1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											115.0	113.0	114.0					2																	100911961		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1531C>T	2.37:g.100911961G>A	ENSP00000377086:p.Arg511*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A006|Q6ZSR4	Nonsense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R511*	ENST00000393437.3	37	c.1531	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	G	41	8.857398	0.98980	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	.	.	.	4.25	4.25	0.50352	.	0.146541	0.45606	D	0.000354	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-3.3004	12.1748	0.54180	0.0:0.0:0.829:0.171	.	.	.	.	X	511;268	.	ENSP00000377086:R511X	R	-	1	2	LONRF2	100278393	0.006000	0.16342	0.005000	0.12908	0.403000	0.30841	1.559000	0.36320	2.054000	0.61138	0.655000	0.94253	CGA	LONRF2	-	NULL	ENSG00000170500		0.333	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	186	0.00	0	G	NM_198461		100911961	100911961	-1	no_errors	ENST00000393437	ensembl	human	known	69_37n	nonsense	150	14.29	25	SNP	0.005	A
LONRF3	79836	genome.wustl.edu	37	X	118151790	118151790	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118151790G>A	ENST00000371628.3	+	0	2448				LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_3'UTR|LONRF3_ENST00000304778.7_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3								ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTTGATCACAGAGAGAAATTG	0.403																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.*137G>A	X.37:g.118151790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPN6|Q8NB00|Q9H647	RNA	SNP	-	NULL	ENST00000371628.3	37	NULL	CCDS35374.1	X																																																																																			LONRF3	-	-	ENSG00000175556		0.403	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	33	0.00	0	G	NM_024778		118151790	118151790	+1	no_errors	ENST00000472173	ensembl	human	known	69_37n	rna	21	16.00	4	SNP	0.030	A
LOXL2	4017	genome.wustl.edu	37	8	23159594	23159594	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:23159594G>A	ENST00000389131.3	-	12	2448	c.2079C>T	c.(2077-2079)atC>atT	p.I693I		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	693	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACTGGCAGTCGATGTCATGGC	0.612																																						dbGAP											0													159.0	118.0	132.0					8																	23159594		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2079C>T	8.37:g.23159594G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.I693	ENST00000389131.3	37	c.2079	CCDS34864.1	8																																																																																			LOXL2	-	pfam_Lysyl_oxidase,prints_Lysyl_oxidase	ENSG00000134013		0.612	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	180	0.00	0	G			23159594	23159594	-1	no_errors	ENST00000389131	ensembl	human	known	69_37n	silent	113	13.74	18	SNP	0.868	A
LPHN2	23266	genome.wustl.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:82409048G>A	ENST00000370728.1	+	8	1438	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_ENST00000370715.1_Missense_Mutation_p.D265N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D265N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D265N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D265N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.D265N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D265N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D265N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D265N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D265N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D269N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D265N			O95490	LPHN2_HUMAN	latrophilin 2	265	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D265H(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTGATATCGACCTAGCAGT	0.408																																						dbGAP											2	Substitution - Missense(2)	lung(2)											142.0	135.0	137.0					1																	82409048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.793G>A	1.37:g.82409048G>A	ENSP00000359763:p.Asp265Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D265N	ENST00000370728.1	37	c.793		1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324477	0.81580	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39;-3.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.964;0.988	D	0.97952	1.0332	10	0.87932	D	0	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	265;265;265	O95490-3;O95490-4;O95490-2	.;.;.	N	269;265;265;265;265;265;265;265;265;265;265;265;265;265	ENSP00000359756:D269N;ENSP00000359763:D265N;ENSP00000359765:D265N;ENSP00000359762:D265N;ENSP00000359760:D265N;ENSP00000359758:D265N;ENSP00000353006:D265N;ENSP00000359750:D265N;ENSP00000359748:D265N;ENSP00000322270:D265N;ENSP00000359752:D265N;ENSP00000378344:D265N;ENSP00000271029:D265N;ENSP00000337306:D265N	ENSP00000271029:D265N	D	+	1	0	LPHN2	82181636	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	9.476000	0.97823	2.591000	0.87537	0.455000	0.32223	GAC	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000117114		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	234	0.00	0	G	NM_012302		82409048	82409048	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	missense	136	35.24	74	SNP	1.000	A
LPHN2	23266	genome.wustl.edu	37	1	82409204	82409204	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:82409204A>G	ENST00000370728.1	+	8	1594	c.949A>G	c.(949-951)Ata>Gta	p.I317V	LPHN2_ENST00000370715.1_Missense_Mutation_p.I317V|LPHN2_ENST00000359929.3_Missense_Mutation_p.I317V|LPHN2_ENST00000271029.4_Missense_Mutation_p.I317V|LPHN2_ENST00000370717.2_Missense_Mutation_p.I317V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Missense_Mutation_p.I317V|LPHN2_ENST00000335786.5_Missense_Mutation_p.I317V|LPHN2_ENST00000370727.1_Missense_Mutation_p.I317V|LPHN2_ENST00000370723.1_Missense_Mutation_p.I317V|LPHN2_ENST00000319517.6_Missense_Mutation_p.I317V|LPHN2_ENST00000370725.1_Missense_Mutation_p.I317V|LPHN2_ENST00000370713.1_Missense_Mutation_p.I317V|LPHN2_ENST00000370721.1_Missense_Mutation_p.I321V|LPHN2_ENST00000370730.1_Missense_Mutation_p.I317V			O95490	LPHN2_HUMAN	latrophilin 2	317	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCTTTTATGATATGCGGAGT	0.393																																						dbGAP											0													117.0	114.0	115.0					1																	82409204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.949A>G	1.37:g.82409204A>G	ENSP00000359763:p.Ile317Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.I317V	ENST00000370728.1	37	c.949		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.563|4.563	0.104510|0.104510	0.08731|0.08731	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.88896|.	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.055638|.	0.64402|.	D|.	0.000001|.	T|.	0.20047|.	0.0482|.	N|N	0.03294|0.03294	-0.36|-0.36	0.48288|0.48288	D|D	0.999623|0.999623	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.10450|.	0.005;0.004;0.003|.	T|.	0.24333|.	-1.0163|.	10|.	0.07482|.	T|.	0.82|.	.|.	15.6787|15.6787	0.77349|0.77349	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	317;317;317|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	V|W	321;317;317;317;317;317;317;317;317;317;317;317;317;317|184	ENSP00000359756:I321V;ENSP00000359763:I317V;ENSP00000359765:I317V;ENSP00000359762:I317V;ENSP00000359760:I317V;ENSP00000359758:I317V;ENSP00000353006:I317V;ENSP00000359750:I317V;ENSP00000359748:I317V;ENSP00000322270:I317V;ENSP00000359752:I317V;ENSP00000378344:I317V;ENSP00000271029:I317V;ENSP00000337306:I317V|.	ENSP00000271029:I317V|.	I|X	+|+	1|3	0|0	LPHN2|LPHN2	82181792|82181792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	6.892000|6.892000	0.75644|0.75644	2.093000|2.093000	0.63338|0.63338	0.455000|0.455000	0.32223|0.32223	ATA|TGA	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000117114		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	225	0.00	0	A	NM_012302		82409204	82409204	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	missense	141	15.57	26	SNP	1.000	G
LRBA	987	genome.wustl.edu	37	4	151356802	151356802	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:151356802C>T	ENST00000357115.3	-	47	7256	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	LRBA_ENST00000535741.1_Missense_Mutation_p.R2327Q|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.R2327Q|LRBA_ENST00000507224.1_Missense_Mutation_p.R2327Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2338	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAAAAGTTCGATCTGCATG	0.353																																						dbGAP											0													81.0	86.0	84.0					4																	151356802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7013G>A	4.37:g.151356802C>T	ENSP00000349629:p.Arg2338Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.R2338Q	ENST00000357115.3	37	c.7013	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.797505|5.797505	0.96952|0.96952	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.70164	.|-0.46;-0.46;-0.46;-0.46	5.2|5.2	5.2|5.2	0.72013|0.72013	.|BEACH domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87478|0.87478	0.6187|0.6187	H|H	0.98218|0.98218	4.175|4.175	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.71674	.|0.998;0.998;0.473	.|P;P;B	.|0.58520	.|0.768;0.84;0.029	D|D	0.92324|0.92324	0.5868|0.5868	5|10	.|0.87932	.|D	.|0	.|.	19.0835|19.0835	0.93192|0.93192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2338;2327;228	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	K|Q	980|2327;2327;2338;2327	.|ENSP00000446299:R2327Q;ENSP00000421552:R2327Q;ENSP00000349629:R2338Q;ENSP00000422180:R2327Q	.|ENSP00000349629:R2338Q	E|R	-|-	1|2	0|0	LRBA|LRBA	151576252|151576252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.701000|7.701000	0.84566|0.84566	2.574000|2.574000	0.86865|0.86865	0.591000|0.591000	0.81541|0.81541	GAA|CGA	LRBA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000198589		0.353	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	142	0.00	0	C			151356802	151356802	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	83	10.75	10	SNP	1.000	T
LRCH1	23143	genome.wustl.edu	37	13	47297460	47297460	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:47297460C>T	ENST00000389798.3	+	16	1956	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	LRCH1_ENST00000389797.3_Missense_Mutation_p.R622C|LRCH1_ENST00000311191.6_Missense_Mutation_p.R587C	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	587	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GGAACAACTTCGTGAGGTACC	0.378																																						dbGAP											0													70.0	72.0	71.0					13																	47297460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1759C>T	13.37:g.47297460C>T	ENSP00000374448:p.Arg587Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R587C	ENST00000389798.3	37	c.1759	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963434	0.74016	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.65732	-0.09;-0.17;-0.08	5.68	4.84	0.62591	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.85930	0.1451	10	0.87932	D	0	-2.6251	13.7088	0.62656	0.0:0.9264:0.0:0.0736	.	587;622;587	Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;LRCH1_HUMAN	C	587;587;622	ENSP00000308493:R587C;ENSP00000374448:R587C;ENSP00000374447:R622C	ENSP00000308493:R587C	R	+	1	0	LRCH1	46195461	0.991000	0.36638	1.000000	0.80357	0.972000	0.66771	3.003000	0.49505	1.425000	0.47237	-0.142000	0.14014	CGT	LRCH1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000136141		0.378	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	215	0.00	0	C	NM_015116		47297460	47297460	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	missense	136	24.86	45	SNP	0.998	T
LRCH2	57631	genome.wustl.edu	37	X	114347861	114347861	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:114347861C>T	ENST00000317135.8	-	21	2246	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	LRCH2_ENST00000538422.1_Missense_Mutation_p.R722Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	739	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CACAAGTCCTCGTTCTTCCAA	0.343																																						dbGAP											0													62.0	55.0	57.0					X																	114347861		1834	4069	5903	-	-	-	SO:0001583	missense	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2216G>A	X.37:g.114347861C>T	ENSP00000325091:p.Arg739Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R739Q	ENST00000317135.8	37	c.2216	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182683	0.78677	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.94966	-3.57;-3.57	5.52	5.52	0.82312	Calponin homology domain (5);	.	.	.	.	D	0.96147	0.8744	L	0.51422	1.61	0.50813	D	0.99989	D;P	0.71674	0.998;0.767	D;B	0.79108	0.992;0.266	D	0.96109	0.9075	9	0.49607	T	0.09	2.7416	16.8514	0.85995	0.0:1.0:0.0:0.0	.	739;722	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	Q	739;218;722	ENSP00000325091:R739Q;ENSP00000439366:R722Q	ENSP00000325091:R739Q	R	-	2	0	LRCH2	114254117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.118000	0.77137	2.291000	0.77112	0.600000	0.82982	CGA	LRCH2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000130224		0.343	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	309	0.00	0	C	NM_020871		114347861	114347861	-1	no_errors	ENST00000317135	ensembl	human	known	69_37n	missense	134	17.79	29	SNP	1.000	T
LRGUK	136332	genome.wustl.edu	37	7	133827863	133827863	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:133827863C>A	ENST00000285928.2	+	4	605	c.536C>A	c.(535-537)tCt>tAt	p.S179Y		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	179						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTAATGCTTCTCAAAATAAT	0.343																																						dbGAP											0													182.0	168.0	173.0					7																	133827863		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.536C>A	7.37:g.133827863C>A	ENSP00000285928:p.Ser179Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.S179Y	ENST00000285928.2	37	c.536	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767395	0.49574	.	.	ENSG00000155530	ENST00000285928	T	0.31769	1.48	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000002	T	0.55625	0.1932	M	0.72894	2.215	0.46396	D	0.999024	D	0.89917	1.0	D	0.83275	0.996	T	0.61569	-0.7036	10	0.87932	D	0	-16.2044	16.2822	0.82697	0.0:1.0:0.0:0.0	.	179	Q96M69	LRGUK_HUMAN	Y	179	ENSP00000285928:S179Y	ENSP00000285928:S179Y	S	+	2	0	LRGUK	133478403	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	5.934000	0.70138	2.110000	0.64415	0.563000	0.77884	TCT	LRGUK	-	NULL	ENSG00000155530		0.343	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	342	0.00	0	C	NM_144648		133827863	133827863	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	missense	312	11.36	40	SNP	1.000	A
LRGUK	136332	genome.wustl.edu	37	7	133842802	133842802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:133842802G>T	ENST00000285928.2	+	6	754	c.685G>T	c.(685-687)Gaa>Taa	p.E229*		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	229						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGAGATAGAAGAAATCAGTGG	0.328																																						dbGAP											0													120.0	107.0	111.0					7																	133842802		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.685G>T	7.37:g.133842802G>T	ENSP00000285928:p.Glu229*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I1	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.E229*	ENST00000285928.2	37	c.685	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832836	0.91036	.	.	ENSG00000155530	ENST00000285928	.	.	.	5.65	3.83	0.44106	.	0.141423	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-10.8535	7.6049	0.28097	0.1514:0.1384:0.7102:0.0	.	.	.	.	X	229	.	ENSP00000285928:E229X	E	+	1	0	LRGUK	133493342	1.000000	0.71417	0.093000	0.20910	0.010000	0.07245	3.058000	0.49939	0.736000	0.32559	0.557000	0.71058	GAA	LRGUK	-	NULL	ENSG00000155530		0.328	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	248	0.00	0	G	NM_144648		133842802	133842802	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	nonsense	172	24.23	55	SNP	0.702	T
LRIG2	9860	genome.wustl.edu	37	1	113650432	113650432	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:113650432G>T	ENST00000361127.5	+	12	1675				LRIG2_ENST00000492207.1_Intron	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AATCTTAACAGAATTAAAAAA	0.274																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1477+53G>T	1.37:g.113650432G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSN2	RNA	SNP	-	NULL	ENST00000361127.5	37	NULL	CCDS30808.1	1																																																																																			LRIG2	-	-	ENSG00000198799		0.274	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	62	0.00	0	G	NM_014813		113650432	113650432	+1	no_errors	ENST00000466069	ensembl	human	known	69_37n	rna	32	15.79	6	SNP	0.002	T
LRIT3	345193	genome.wustl.edu	37	4	110791373	110791373	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:110791373C>A	ENST00000594814.1	+	4	1468	c.1468C>A	c.(1468-1470)Ctc>Atc	p.L490I	LRIT3_ENST00000409621.2_Missense_Mutation_p.L307I|LRIT3_ENST00000327908.3_Missense_Mutation_p.L307I|LRIT3_ENST00000379920.3_Missense_Mutation_p.L445I	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	490	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AATAGAAAACCTCAGGGTGGT	0.443																																						dbGAP											0													112.0	106.0	108.0					4																	110791373		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1468C>A	4.37:g.110791373C>A	ENSP00000469759:p.Leu490Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L445I	ENST00000594814.1	37	c.1333	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452423	0.63290	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.35605	1.3;1.3;1.3	5.06	5.06	0.68205	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.062058	0.64402	D	0.000003	T	0.54532	0.1864	M	0.69823	2.125	0.54753	D	0.999986	D;D	0.65815	0.991;0.995	P;P	0.56474	0.634;0.799	T	0.54370	-0.8304	10	0.37606	T	0.19	.	18.44	0.90662	0.0:1.0:0.0:0.0	.	445;307	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	I	307;445;307	ENSP00000328222:L307I;ENSP00000369252:L445I;ENSP00000386734:L307I	ENSP00000328222:L307I	L	+	1	0	LRIT3	111010822	1.000000	0.71417	0.978000	0.43139	0.910000	0.53928	1.979000	0.40608	2.340000	0.79590	0.655000	0.94253	CTC	LRIT3	-	superfamily_Fibronectin_type3	ENSG00000183423		0.443	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	247	0.00	0	C	NM_198506		110791373	110791373	+1	no_errors	ENST00000379920	ensembl	human	known	69_37n	missense	171	23.32	52	SNP	1.000	A
LRP1	4035	genome.wustl.edu	37	12	57567565	57567565	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57567565C>T	ENST00000243077.3	+	22	3815	c.3349C>T	c.(3349-3351)Cgg>Tgg	p.R1117W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1117	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCCTCAGCTCGGTGCATCAG	0.622																																						dbGAP											0													133.0	113.0	120.0					12																	57567565		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.3349C>T	12.37:g.57567565C>T	ENSP00000243077:p.Arg1117Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R1117W	ENST00000243077.3	37	c.3349	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381088	0.82792	.	.	ENSG00000123384	ENST00000243077	D	0.91792	-2.91	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000003	D	0.95389	0.8503	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95437	0.8522	10	0.87932	D	0	.	11.8766	0.52550	0.1748:0.8252:0.0:0.0	.	1117	Q07954	LRP1_HUMAN	W	1117	ENSP00000243077:R1117W	ENSP00000243077:R1117W	R	+	1	2	LRP1	55853832	0.993000	0.37304	1.000000	0.80357	0.966000	0.64601	3.017000	0.49615	2.469000	0.83416	0.491000	0.48974	CGG	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	115	0.00	0	C	NM_002332		57567565	57567565	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	73	11.90	10	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141143522	141143522	+	Missense_Mutation	SNP	C	C	T	rs201065495		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:141143522C>T	ENST00000389484.3	-	67	11442	c.10471G>A	c.(10471-10473)Gat>Aat	p.D3491N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3491	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3491N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGCCAGTGATCGGGAATACAG	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											1	Substitution - Missense(1)	endometrium(1)											148.0	139.0	142.0					2																	141143522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10471G>A	2.37:g.141143522C>T	ENSP00000374135:p.Asp3491Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D3491N	ENST00000389484.3	37	c.10471	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508907	0.85282	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95238	-3.65	6.08	6.08	0.98989	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92303	0.7558	N	0.08118	0	0.58432	D	0.999996	D	0.61080	0.989	P	0.56751	0.805	D	0.90099	0.4183	10	0.17369	T	0.5	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	3491	Q9NZR2	LRP1B_HUMAN	N	3491;3429	ENSP00000374135:D3491N	ENSP00000374135:D3491N	D	-	1	0	LRP1B	140859992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.894000	0.99253	0.655000	0.94253	GAT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	355	0.00	0	C	NM_018557		141143522	141143522	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	208	11.06	26	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141294172	141294172	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:141294172T>G	ENST00000389484.3	-	46	8591	c.7620A>C	c.(7618-7620)tcA>tcC	p.S2540S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2540	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTTCATCTGATTTATCTT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													147.0	147.0	147.0					2																	141294172		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7620A>C	2.37:g.141294172T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S2540	ENST00000389484.3	37	c.7620	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	334	0.00	0	T	NM_018557		141294172	141294172	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	silent	213	27.05	79	SNP	0.063	G
LRP1B	53353	genome.wustl.edu	37	2	141459810	141459810	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:141459810C>T	ENST00000389484.3	-	39	7173	c.6202G>A	c.(6202-6204)Gac>Aac	p.D2068N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2068					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTCAAGGTCGATTCTCTCT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													200.0	177.0	185.0					2																	141459810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6202G>A	2.37:g.141459810C>T	ENSP00000374135:p.Asp2068Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2068N	ENST00000389484.3	37	c.6202	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308963	0.60305	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93426	-3.22	5.6	5.6	0.85130	Six-bladed beta-propeller, TolB-like (1);	0.199326	0.42420	U	0.000720	D	0.86606	0.5973	N	0.11000	0.08	0.41095	D	0.985624	B	0.20988	0.05	B	0.14578	0.011	T	0.81604	-0.0857	10	0.20046	T	0.44	.	19.627	0.95680	0.0:1.0:0.0:0.0	.	2068	Q9NZR2	LRP1B_HUMAN	N	2068;2006	ENSP00000374135:D2068N	ENSP00000374135:D2068N	D	-	1	0	LRP1B	141176280	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.565000	0.67365	2.641000	0.89580	0.557000	0.71058	GAC	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	369	0.27	1	C	NM_018557		141459810	141459810	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	230	10.85	28	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	142238042	142238042	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:142238042T>G	ENST00000389484.3	-	3	1237	c.266A>C	c.(265-267)aAa>aCa	p.K89T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	89	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGAACACATTTGTTGGTACC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													128.0	111.0	117.0					2																	142238042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.266A>C	2.37:g.142238042T>G	ENSP00000374135:p.Lys89Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.K89T	ENST00000389484.3	37	c.266	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	7.840	0.721630	0.15372	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.58506	0.33	5.51	-1.35	0.09114	.	0.334016	0.29868	N	0.010988	T	0.25865	0.0630	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07481	-1.0770	10	0.11794	T	0.64	.	1.9698	0.03403	0.1045:0.2016:0.2246:0.4694	.	89	Q9NZR2	LRP1B_HUMAN	T	89;25	ENSP00000374135:K89T	ENSP00000374135:K89T	K	-	2	0	LRP1B	141954512	0.697000	0.27767	0.029000	0.17559	0.786000	0.44442	0.566000	0.23593	0.122000	0.18314	0.528000	0.53228	AAA	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	262	0.00	0	T	NM_018557		142238042	142238042	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	181	26.72	66	SNP	0.022	G
LRP2	4036	genome.wustl.edu	37	2	170025080	170025080	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170025080G>A	ENST00000263816.3	-	61	11889	c.11604C>T	c.(11602-11604)ggC>ggT	p.G3868G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3868	LDL-receptor class A 34. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G3868G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTGAACCATCGCCACAGTCAT	0.453																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											155.0	133.0	141.0					2																	170025080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11604C>T	2.37:g.170025080G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G3868	ENST00000263816.3	37	c.11604	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	9.148	1.015489	0.19355	.	.	ENSG00000081479	ENST00000536293	.	.	.	5.82	-2.26	0.06867	.	.	.	.	.	T	0.39118	0.1066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34453	-0.9828	5	0.30078	T	0.28	.	1.2616	0.02002	0.388:0.0907:0.2618:0.2595	.	.	.	.	V	533	.	ENSP00000438157:A533V	A	-	2	0	LRP2	169733326	0.030000	0.19436	0.996000	0.52242	0.817000	0.46193	-0.715000	0.04997	-0.075000	0.12798	-0.224000	0.12420	GCG	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	372	0.00	0	G	NM_004525		170025080	170025080	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	silent	194	26.97	72	SNP	0.885	A
LRP2	4036	genome.wustl.edu	37	2	170092352	170092352	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170092352A>G	ENST00000263816.3	-	29	5203	c.4918T>C	c.(4918-4920)Ttg>Ctg	p.L1640L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1640					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAACTTACCAAATCACTGGCT	0.393																																						dbGAP											0													116.0	106.0	109.0					2																	170092352		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4918T>C	2.37:g.170092352A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L1640	ENST00000263816.3	37	c.4918	CCDS2232.1	2																																																																																			LRP2	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt	ENSG00000081479		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	350	0.00	0	A	NM_004525		170092352	170092352	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	silent	200	28.83	81	SNP	0.999	G
LRP2	4036	genome.wustl.edu	37	2	170136891	170136891	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170136891C>A	ENST00000263816.3	-	11	1595	c.1310G>T	c.(1309-1311)aGa>aTa	p.R437I	LRP2_ENST00000443831.1_Missense_Mutation_p.R437I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	437					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAAAAAACTCTTTGCAGGTG	0.433																																						dbGAP											0													82.0	83.0	82.0					2																	170136891		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1310G>T	2.37:g.170136891C>A	ENSP00000263816:p.Arg437Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R437I	ENST00000263816.3	37	c.1310	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461695	0.26248	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91792	-2.91;-2.91	5.55	0.731	0.18277	Six-bladed beta-propeller, TolB-like (1);	0.142143	0.53938	D	0.000052	D	0.87970	0.6312	L	0.42245	1.32	0.42707	D	0.993634	P;P	0.52170	0.951;0.899	P;B	0.45660	0.489;0.404	T	0.82731	-0.0312	9	.	.	.	.	10.0716	0.42337	0.0:0.6783:0.0:0.3217	.	437;437	E9PC35;P98164	.;LRP2_HUMAN	I	437	ENSP00000263816:R437I;ENSP00000409813:R437I	.	R	-	2	0	LRP2	169845137	0.983000	0.35010	0.046000	0.18839	0.838000	0.47535	1.660000	0.37397	-0.145000	0.11294	0.563000	0.77884	AGA	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	175	0.00	0	C	NM_004525		170136891	170136891	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	0.439	A
LRP5L	91355	genome.wustl.edu	37	22	25750759	25750759	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:25750759C>T	ENST00000402785.2	-	3	555	c.459G>A	c.(457-459)acG>acA	p.T153T	LRP5L_ENST00000444995.3_Silent_p.T153T|LRP5L_ENST00000402859.2_Silent_p.T153T			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	153					canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)		Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCTGCCTCTTCGTCTCATCGA	0.592																																						dbGAP											0													131.0	115.0	120.0					22																	25750759		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AL137651	CCDS33626.1	22q11.23	2013-05-30			ENSG00000100068	ENSG00000100068			25323	protein-coding gene	gene with protein product							Standard	NM_182492		Approved	DKFZp434O0213	uc011ajz.2	A4QPB2	OTTHUMG00000150900	ENST00000402785.2:c.459G>A	22.37:g.25750759C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYF3|B0QYF4|B2RPI5	Silent	SNP	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	p.T153	ENST00000402785.2	37	c.459	CCDS33626.1	22																																																																																			LRP5L	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt	ENSG00000100068		0.592	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5L	HGNC	protein_coding	OTTHUMT00000320477.2	115	0.00	0	C	NM_182492		25750759	25750759	-1	no_errors	ENST00000402785	ensembl	human	known	69_37n	silent	49	30.99	22	SNP	0.904	T
LRP6	4040	genome.wustl.edu	37	12	12334106	12334106	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:12334106C>T	ENST00000261349.4	-	6	1320	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R415Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	415	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATAAAGATTTCGTGCAACCCA	0.473																																						dbGAP											0													161.0	134.0	143.0					12																	12334106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1244G>A	12.37:g.12334106C>T	ENSP00000261349:p.Arg415Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R415Q	ENST00000261349.4	37	c.1244	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.351813	0.95830	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.83914	-1.78;-1.78	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.52532	D	0.000074	D	0.92344	0.7571	M	0.85462	2.755	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.75484	0.986;0.842	D	0.92467	0.5982	10	0.59425	D	0.04	.	19.879	0.96888	0.0:1.0:0.0:0.0	.	415;415	F5H7J9;O75581	.;LRP6_HUMAN	Q	415	ENSP00000261349:R415Q;ENSP00000442472:R415Q	ENSP00000261349:R415Q	R	-	2	0	LRP6	12225373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.695000	0.91970	0.655000	0.94253	CGA	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.473	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	266	0.37	1	C			12334106	12334106	-1	no_errors	ENST00000261349	ensembl	human	known	69_37n	missense	190	21.31	52	SNP	1.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44115743	44115743	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:44115743G>T	ENST00000260665.7	-	38	4238	c.4181C>A	c.(4180-4182)tCt>tAt	p.S1394Y		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1394	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTATTTCAAGAAGAGTTTTC	0.328																																						dbGAP											0													85.0	88.0	87.0					2																	44115743		2203	4299	6502	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.4181C>A	2.37:g.44115743G>T	ENSP00000260665:p.Ser1394Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.S1394Y	ENST00000260665.7	37	c.4181	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583074	0.46006	.	.	ENSG00000138095	ENST00000260665	T	0.57107	0.42	5.48	-1.69	0.08186	.	1.223890	0.05819	N	0.615372	T	0.42063	0.1186	L	0.38838	1.175	0.09310	N	1	B	0.18741	0.03	B	0.10450	0.005	T	0.43605	-0.9381	10	0.87932	D	0	0.5652	8.3069	0.32047	0.1531:0.0:0.731:0.116	.	1394	P42704	LPPRC_HUMAN	Y	1394	ENSP00000260665:S1394Y	ENSP00000260665:S1394Y	S	-	2	0	LRPPRC	43969247	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	-0.076000	0.11412	-0.325000	0.08577	-0.150000	0.13652	TCT	LRPPRC	-	NULL	ENSG00000138095		0.328	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	381	0.00	0	G	NM_133259		44115743	44115743	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	225	25.00	75	SNP	0.000	T
LRPPRC	10128	genome.wustl.edu	37	2	44203363	44203363	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:44203363A>C	ENST00000260665.7	-	6	713	c.656T>G	c.(655-657)aTt>aGt	p.I219S	LRPPRC_ENST00000409659.1_Missense_Mutation_p.I219S|LRPPRC_ENST00000409946.1_Missense_Mutation_p.I219S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	219					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAATCCAAGAATCTTGCTGCA	0.383																																						dbGAP											0													70.0	68.0	69.0					2																	44203363		2203	4300	6503	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.656T>G	2.37:g.44203363A>C	ENSP00000260665:p.Ile219Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.I219S	ENST00000260665.7	37	c.656	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451914	0.84209	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.68331	0.21;0.26;0.25;-0.32	5.2	5.2	0.72013	.	0.199125	0.49916	N	0.000126	D	0.82765	0.5108	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.992;0.997;0.974	D	0.85677	0.1298	10	0.72032	D	0.01	-10.7937	15.0652	0.71989	1.0:0.0:0.0:0.0	.	119;193;219	F5H4J6;C9JCA9;P42704	.;.;LPPRC_HUMAN	S	119;219;219;219;193	ENSP00000260665:I219S;ENSP00000386234:I219S;ENSP00000386562:I219S;ENSP00000403637:I193S	ENSP00000260665:I219S	I	-	2	0	LRPPRC	44056867	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.228000	0.89789	1.947000	0.56498	0.477000	0.44152	ATT	LRPPRC	-	pfam_Pentatricopeptide_repeat	ENSG00000138095		0.383	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	139	0.00	0	A	NM_133259		44203363	44203363	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	110	19.12	26	SNP	1.000	C
LRPPRC	10128	genome.wustl.edu	37	2	44209479	44209479	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:44209479G>T	ENST00000260665.7	-	2	301	c.244C>A	c.(244-246)Cag>Aag	p.Q82K	LRPPRC_ENST00000409659.1_Missense_Mutation_p.Q82K|LRPPRC_ENST00000409946.1_Missense_Mutation_p.Q82K	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	82					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAATCAAACTGATTGGAAATC	0.418																																						dbGAP											0													58.0	63.0	62.0					2																	44209479		2203	4299	6502	-	-	-	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.244C>A	2.37:g.44209479G>T	ENSP00000260665:p.Gln82Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.Q82K	ENST00000260665.7	37	c.244	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305344	0.40795	.	.	ENSG00000138095	ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.64438	0.46;0.45;0.47;-0.1	5.4	4.51	0.55191	.	0.336527	0.35870	N	0.002936	T	0.54727	0.1876	M	0.68952	2.095	0.26705	N	0.971094	B;B	0.27559	0.004;0.181	B;B	0.24541	0.003;0.054	T	0.47433	-0.9118	10	0.06494	T	0.89	-13.934	13.0346	0.58862	0.0756:0.0:0.9244:0.0	.	56;82	C9JCA9;P42704	.;LPPRC_HUMAN	K	82;82;82;56	ENSP00000260665:Q82K;ENSP00000386234:Q82K;ENSP00000386562:Q82K;ENSP00000403637:Q56K	ENSP00000260665:Q82K	Q	-	1	0	LRPPRC	44062983	1.000000	0.71417	0.004000	0.12327	0.077000	0.17291	5.819000	0.69243	1.382000	0.46385	0.655000	0.94253	CAG	LRPPRC	-	NULL	ENSG00000138095		0.418	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	116	0.00	0	G	NM_133259		44209479	44209479	-1	no_errors	ENST00000260665	ensembl	human	known	69_37n	missense	107	13.01	16	SNP	0.346	T
LRR1	122769	genome.wustl.edu	37	14	50074118	50074118	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:50074118G>A	ENST00000298288.6	+	3	607	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	LRR1_ENST00000318317.4_Intron|LRR1_ENST00000557531.1_3'UTR	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	95					protein ubiquitination (GO:0016567)					kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATTTATTCAGGCCATTTCCAG	0.368																																						dbGAP											0													58.0	67.0	64.0					14																	50074118		2200	4299	6499	-	-	-	SO:0001630	splice_region_variant	0			BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.283-1G>A	14.37:g.50074118G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A95T	ENST00000298288.6	37	c.283	CCDS9686.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.264791|4.264791	0.80358|0.80358	.|.	.|.	ENSG00000165501|ENSG00000165501	ENST00000298288|ENST00000361579	T|.	0.49139|.	0.79|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83510|0.83510	0.5270|0.5270	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	P|.	0.46395|.	0.877|.	B|.	0.43360|.	0.417|.	D|D	0.84277|0.84277	0.0492|0.0492	9|5	.|.	.|.	.|.	-9.4026|-9.4026	19.9889|19.9889	0.97359|0.97359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	95|.	Q96L50|.	LLR1_HUMAN|.	T|D	95|117	ENSP00000298288:A95T|.	.|.	A|G	+|+	1|2	0|0	LRR1|LRR1	49143868|49143868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	9.208000|9.208000	0.95075|0.95075	2.804000|2.804000	0.96469|0.96469	0.650000|0.650000	0.86243|0.86243	GCC|GGC	LRR1	-	NULL	ENSG00000165501		0.368	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRR1	HGNC	protein_coding	OTTHUMT00000410790.1	24	0.00	0	G	NM_203467	Missense_Mutation	50074118	50074118	+1	no_errors	ENST00000298288	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	A
LRRC1	55227	genome.wustl.edu	37	6	53747729	53747729	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:53747729C>T	ENST00000370888.1	+	4	678	c.401C>T	c.(400-402)tCt>tTt	p.S134F	LRRC1_ENST00000370882.1_Missense_Mutation_p.S134F	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	134						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACATGTCTTTCTGTAAATGAC	0.338																																						dbGAP											0													110.0	107.0	108.0					6																	53747729		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.401C>T	6.37:g.53747729C>T	ENSP00000359925:p.Ser134Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S134F	ENST00000370888.1	37	c.401	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759571	0.49468	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.53206	3.55;0.63	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.19321	-1.0309	10	0.10111	T	0.7	.	15.7016	0.77547	0.0:1.0:0.0:0.0	.	134	Q9BTT6	LRRC1_HUMAN	F	134	ENSP00000359925:S134F;ENSP00000359919:S134F	ENSP00000359919:S134F	S	+	2	0	LRRC1	53855688	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.592000	0.74095	2.575000	0.86900	0.563000	0.77884	TCT	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.338	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	319	0.00	0	C	NM_025168		53747729	53747729	+1	no_errors	ENST00000370888	ensembl	human	known	69_37n	missense	219	10.61	26	SNP	1.000	T
LRRC1	55227	genome.wustl.edu	37	6	53764614	53764614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:53764614G>T	ENST00000370888.1	+	8	989	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	238						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ACTTCCTGAAGAAATCAGTGG	0.388																																						dbGAP											0													126.0	116.0	119.0					6																	53764614		1857	4086	5943	-	-	-	SO:0001587	stop_gained	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.712G>T	6.37:g.53764614G>T	ENSP00000359925:p.Glu238*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E238*	ENST00000370888.1	37	c.712	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	G	39	7.555192	0.98355	.	.	ENSG00000137269	ENST00000370888	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.693	0.91590	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000359925:E238X	E	+	1	0	LRRC1	53872573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.654000	0.90174	0.650000	0.86243	GAA	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.388	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	393	0.00	0	G	NM_025168		53764614	53764614	+1	no_errors	ENST00000370888	ensembl	human	known	69_37n	nonsense	312	28.05	122	SNP	1.000	T
LRRC15	131578	genome.wustl.edu	37	3	194080858	194080858	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:194080858G>T	ENST00000347624.3	-	2	1000	c.915C>A	c.(913-915)atC>atA	p.I305I	LRRC15_ENST00000428839.1_Silent_p.I311I|LRRC15_ENST00000439944.2_Silent_p.I311I	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	305					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTAGAGAAGAGATGTGGTTGT	0.552																																						dbGAP											0													57.0	62.0	60.0					3																	194080858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.915C>A	3.37:g.194080858G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Q6|Q7RTN7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I311	ENST00000347624.3	37	c.933	CCDS3306.1	3																																																																																			LRRC15	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000172061		0.552	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	92	0.00	0	G			194080858	194080858	-1	no_errors	ENST00000439944	ensembl	human	known	69_37n	silent	82	30.51	36	SNP	0.300	T
LRRC16A	55604	genome.wustl.edu	37	6	25279945	25279945	+	5'UTR	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:25279945A>C	ENST00000329474.6	+	0	290				LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TCTCTAAAAAAATTGAGGAGT	0.552																																						dbGAP											0													47.0	48.0	48.0					6																	25279945		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.-79A>C	6.37:g.25279945A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	RNA	SNP	-	NULL	ENST00000329474.6	37	NULL	CCDS54973.1	6																																																																																			LRRC16A	-	-	ENSG00000079691		0.552	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	109	0.00	0	A	NM_017640		25279945	25279945	+1	no_errors	ENST00000494470	ensembl	human	putative	69_37n	rna	69	23.08	21	SNP	0.000	C
LRRC16A	55604	genome.wustl.edu	37	6	25610306	25610306	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:25610306G>A	ENST00000329474.6	+	36	4244	c.3876G>A	c.(3874-3876)ccG>ccA	p.P1292P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1292					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATCTAGCCCGAAAGTTGCCC	0.478																																						dbGAP											0													125.0	126.0	126.0					6																	25610306		1872	4116	5988	-	-	-	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3876G>A	6.37:g.25610306G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P1292	ENST00000329474.6	37	c.3876	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.478	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	132	0.00	0	G	NM_017640		25610306	25610306	+1	no_errors	ENST00000329474	ensembl	human	novel	69_37n	silent	87	22.81	26	SNP	0.000	A
LRRC16B	90668	genome.wustl.edu	37	14	24524288	24524288	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24524288G>T	ENST00000342740.5	+	7	628	c.474G>T	c.(472-474)gaG>gaT	p.E158D	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	158						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTTCTCTGAGACCTACGCTG	0.542																																						dbGAP											0													144.0	120.0	128.0					14																	24524288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.474G>T	14.37:g.24524288G>T	ENSP00000340467:p.Glu158Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E158D	ENST00000342740.5	37	c.474	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105018	0.56291	.	.	ENSG00000186648	ENST00000342740	T	0.17054	2.3	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000002	T	0.28962	0.0719	L	0.54323	1.7	0.80722	D	1	D	0.56521	0.976	P	0.56648	0.803	T	0.00812	-1.1556	10	0.38643	T	0.18	-11.4592	12.6262	0.56630	0.0:0.0:1.0:0.0	.	158	Q8ND23	LR16B_HUMAN	D	158	ENSP00000340467:E158D	ENSP00000340467:E158D	E	+	3	2	LRRC16B	23594128	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.753000	0.47524	2.342000	0.79632	0.462000	0.41574	GAG	LRRC16B	-	NULL	ENSG00000186648		0.542	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	292	0.00	0	G	NM_138360		24524288	24524288	+1	no_errors	ENST00000342740	ensembl	human	known	69_37n	missense	218	14.45	37	SNP	1.000	T
LRRC19	64922	genome.wustl.edu	37	9	26996331	26996331	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:26996331C>T	ENST00000380055.5	-	4	872	c.762G>A	c.(760-762)tcG>tcA	p.S254S	IFT74_ENST00000380062.5_Intron|IFT74_ENST00000443698.1_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	254						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		TTAAGTTGTTCGAAGAGCTAT	0.299																																						dbGAP											0													66.0	71.0	69.0					9																	26996331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.762G>A	9.37:g.26996331C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV00|B9EG91	Silent	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S254	ENST00000380055.5	37	c.762	CCDS6518.1	9																																																																																			LRRC19	-	NULL	ENSG00000184434		0.299	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC19	HGNC	protein_coding	OTTHUMT00000051961.2	119	0.00	0	C	NM_022901		26996331	26996331	-1	no_errors	ENST00000380055	ensembl	human	known	69_37n	silent	73	14.12	12	SNP	0.015	T
LRRC31	79782	genome.wustl.edu	37	3	169557856	169557856	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:169557856G>A	ENST00000316428.5	-	9	1630	c.1573C>T	c.(1573-1575)Ctc>Ttc	p.L525F	LRRC31_ENST00000264676.5_Missense_Mutation_p.L469F|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	525								p.L525I(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GAAGCTGGGAGAATCCATCTT	0.398																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											132.0	120.0	124.0					3																	169557856		1891	4115	6006	-	-	-	SO:0001583	missense	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1573C>T	3.37:g.169557856G>A	ENSP00000325978:p.Leu525Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L525F	ENST00000316428.5	37	c.1573	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350268	0.24512	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.13901	2.55;2.67	4.87	1.52	0.23074	.	0.514297	0.20145	N	0.098281	T	0.20780	0.0500	L	0.29908	0.895	0.27356	N	0.956111	D;D	0.69078	0.997;0.986	D;P	0.68192	0.956;0.809	T	0.03296	-1.1051	10	0.72032	D	0.01	-0.5607	9.3107	0.37903	0.0762:0.0:0.6459:0.2778	.	469;525	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	F	525;469	ENSP00000325978:L525F;ENSP00000264676:L469F	ENSP00000264676:L469F	L	-	1	0	LRRC31	171040550	0.785000	0.28726	0.007000	0.13788	0.071000	0.16799	0.870000	0.28010	0.424000	0.26061	0.650000	0.86243	CTC	LRRC31	-	NULL	ENSG00000114248		0.398	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	353	0.00	0	G	NM_024727		169557856	169557856	-1	no_errors	ENST00000316428	ensembl	human	known	69_37n	missense	311	23.77	97	SNP	0.083	A
LRRC37A6P	387646	genome.wustl.edu	37	10	27538045	27538045	+	lincRNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27538045G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GTCAGTTTTCGATGCAGAGTC	0.502																																						dbGAP											0													54.0	47.0	49.0					10																	27538045		692	1591	2283	-	-	-			0																															10.37:g.27538045G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.502	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	250	0.00	0	G			27538045	27538045	-1	no_errors	ENST00000284414	ensembl	human	known	69_37n	rna	113	18.71	26	SNP	0.002	A
LRRC43	254050	genome.wustl.edu	37	12	122670804	122670804	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:122670804G>A	ENST00000339777.4	+	3	507	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	160										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AGCGCCAATCGAATCAAGGAG	0.567																																						dbGAP											0													58.0	60.0	59.0					12																	122670804		1925	4129	6054	-	-	-	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.479G>A	12.37:g.122670804G>A	ENSP00000344233:p.Arg160Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVT9	Missense_Mutation	SNP	NULL	p.R160Q	ENST00000339777.4	37	c.479	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	8.771	0.925870	0.18056	.	.	ENSG00000158113	ENST00000339777	T	0.22945	1.93	5.11	-1.35	0.09114	.	.	.	.	.	T	0.11750	0.0286	N	0.11560	0.145	0.09310	N	0.999997	B	0.20261	0.043	B	0.14578	0.011	T	0.37478	-0.9704	9	0.13470	T	0.59	-2.0E-4	10.8443	0.46735	0.6006:0.0:0.3994:0.0	.	160	Q8N309	LRC43_HUMAN	Q	160	ENSP00000344233:R160Q	ENSP00000344233:R160Q	R	+	2	0	LRRC43	121236757	0.005000	0.15991	0.171000	0.22900	0.932000	0.56968	0.240000	0.18042	-0.547000	0.06207	0.655000	0.94253	CGA	LRRC43	-	NULL	ENSG00000158113		0.567	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	327	0.00	0	G	NM_152759		122670804	122670804	+1	no_errors	ENST00000339777	ensembl	human	known	69_37n	missense	181	17.73	39	SNP	0.031	A
LRRC49	54839	genome.wustl.edu	37	15	71196979	71196979	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:71196979A>C	ENST00000260382.5	+	5	645	c.385A>C	c.(385-387)Aat>Cat	p.N129H	LRRC49_ENST00000443425.2_Missense_Mutation_p.N85H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N119H|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.N134H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	129						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TCGGATACAAAATATTTCTAA	0.353																																						dbGAP											0													101.0	107.0	105.0					15																	71196979		2199	4297	6496	-	-	-	SO:0001583	missense	0				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.385A>C	15.37:g.71196979A>C	ENSP00000260382:p.Asn129His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N129H	ENST00000260382.5	37	c.385	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023185	0.35701	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.09538	2.97;2.97;2.97	5.8	5.8	0.92144	.	0.057780	0.64402	D	0.000002	T	0.14356	0.0347	M	0.63208	1.945	0.47862	D	0.999537	B;B;B;B;B	0.33266	0.305;0.259;0.141;0.17;0.404	B;B;B;B;B	0.33568	0.109;0.082;0.103;0.166;0.101	T	0.03739	-1.1008	10	0.27785	T	0.31	-24.9875	14.1127	0.65132	1.0:0.0:0.0:0.0	.	134;101;85;129;119	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	H	119;129;85;101	ENSP00000439600:N119H;ENSP00000260382:N129H;ENSP00000414065:N85H	ENSP00000260382:N129H	N	+	1	0	LRRC49	68984033	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.958000	0.63660	2.227000	0.72691	0.460000	0.39030	AAT	LRRC49	-	NULL	ENSG00000137821		0.353	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	308	0.00	0	A	NM_017691		71196979	71196979	+1	no_errors	ENST00000260382	ensembl	human	known	69_37n	missense	265	14.52	45	SNP	1.000	C
LRRC49	54839	genome.wustl.edu	37	15	71276438	71276438	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:71276438G>T	ENST00000260382.5	+	11	1271	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	LRRC49_ENST00000443425.2_Missense_Mutation_p.K293N|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.K327N|LRRC49_ENST00000560691.1_Missense_Mutation_p.K43N|LRRC49_ENST00000560369.1_Missense_Mutation_p.K342N|LRRC49_ENST00000560158.2_Missense_Mutation_p.K25N	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	337						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CATAGGAGAAGAAAAGGTTAA	0.343																																						dbGAP											0													65.0	60.0	62.0					15																	71276438		2199	4297	6496	-	-	-	SO:0001583	missense	0				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1011G>T	15.37:g.71276438G>T	ENSP00000260382:p.Lys337Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K337N	ENST00000260382.5	37	c.1011	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931137	0.52866	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33865	1.39;1.39;1.39	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	M	0.68952	2.095	0.49798	D	0.999821	P;P;P;P;P	0.52842	0.82;0.956;0.815;0.927;0.611	P;P;B;P;B	0.51266	0.496;0.664;0.395;0.614;0.148	T	0.44544	-0.9321	10	0.72032	D	0.01	-19.9088	8.5546	0.33474	0.1038:0.0:0.8962:0.0	.	342;309;293;337;327	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	N	327;337;293;309	ENSP00000439600:K327N;ENSP00000260382:K337N;ENSP00000414065:K293N	ENSP00000260382:K337N	K	+	3	2	LRRC49	69063492	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.618000	0.46393	2.476000	0.83614	0.467000	0.42956	AAG	LRRC49	-	NULL	ENSG00000137821		0.343	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3	232	0.00	0	G	NM_017691		71276438	71276438	+1	no_errors	ENST00000260382	ensembl	human	known	69_37n	missense	159	20.00	40	SNP	1.000	T
LRRC4C	57689	genome.wustl.edu	37	11	40136877	40136877	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:40136877C>T	ENST00000278198.2	-	2	2929	c.966G>A	c.(964-966)tcG>tcA	p.S322S	LRRC4C_ENST00000527150.1_Silent_p.S322S|LRRC4C_ENST00000528697.1_Silent_p.S322S|LRRC4C_ENST00000530763.1_Silent_p.S322S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	322	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.S322S(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGCTGTGTTCGAGGGGGCCA	0.493																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											92.0	80.0	84.0					11																	40136877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.966G>A	11.37:g.40136877C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0T1|Q7L0N3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S322	ENST00000278198.2	37	c.966	CCDS31464.1	11																																																																																			LRRC4C	-	NULL	ENSG00000148948		0.493	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	133	0.00	0	C	NM_020929		40136877	40136877	-1	no_errors	ENST00000527150	ensembl	human	known	69_37n	silent	100	15.13	18	SNP	0.989	T
LRRC69	100130742	genome.wustl.edu	37	8	92145365	92145365	+	Silent	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:92145365A>C	ENST00000448384.2	+	4	411	c.411A>C	c.(409-411)atA>atC	p.I137I	LRRC69_ENST00000343709.3_Intron	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	137										endometrium(1)	1						ATATGAGTATAAATTATAACC	0.308																																						dbGAP											0													30.0	27.0	28.0					8																	92145365		692	1588	2280	-	-	-	SO:0001819	synonymous_variant	0			AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.411A>C	8.37:g.92145365A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I137	ENST00000448384.2	37	c.411		8																																																																																			LRRC69	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000214954		0.308	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	LRRC69	HGNC	protein_coding	OTTHUMT00000415207.1	69	0.00	0	A	NM_001129890		92145365	92145365	+1	no_errors	ENST00000448384	ensembl	human	novel	69_37n	silent	16	33.33	8	SNP	1.000	C
LRRC7	57554	genome.wustl.edu	37	1	70504377	70504377	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:70504377C>T	ENST00000035383.5	+	19	2786	c.2756C>T	c.(2755-2757)tCt>tTt	p.S919F	LRRC7_ENST00000310961.5_Missense_Mutation_p.S924F|LRRC7_ENST00000415775.2_Missense_Mutation_p.S203F	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	919						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGGAATCTTCTAAAGGTGTT	0.408																																						dbGAP											0													53.0	53.0	53.0					1																	70504377		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2756C>T	1.37:g.70504377C>T	ENSP00000035383:p.Ser919Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.S919F	ENST00000035383.5	37	c.2756	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421854	0.25639	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.44083	0.93;1.0;2.1	5.67	5.67	0.87782	.	0.132113	0.53938	D	0.000050	T	0.47469	0.1447	L	0.44542	1.39	0.35310	D	0.783785	D;P;P	0.67145	0.996;0.899;0.94	P;P;B	0.60473	0.875;0.568;0.364	T	0.50398	-0.8833	10	0.72032	D	0.01	.	18.7487	0.91804	0.0:1.0:0.0:0.0	.	203;919;919	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	F	924;919;203;742	ENSP00000309245:S924F;ENSP00000035383:S919F;ENSP00000394867:S203F	ENSP00000035383:S919F	S	+	2	0	LRRC7	70276965	0.999000	0.42202	0.998000	0.56505	0.038000	0.13279	4.340000	0.59328	2.686000	0.91538	0.467000	0.42956	TCT	LRRC7	-	NULL	ENSG00000033122		0.408	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	48	0.00	0	C	NM_020794		70504377	70504377	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	1.000	T
LRRC8C	84230	genome.wustl.edu	37	1	90179421	90179421	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:90179421T>C	ENST00000370454.4	+	3	1547	c.1292T>C	c.(1291-1293)aTc>aCc	p.I431T	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	431					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTGCCTCTTATCATGCTCTCT	0.393																																						dbGAP											0													89.0	83.0	85.0					1																	90179421		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1292T>C	1.37:g.90179421T>C	ENSP00000359483:p.Ile431Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I431T	ENST00000370454.4	37	c.1292	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438398	0.25900	.	.	ENSG00000171488	ENST00000370454	T	0.24151	1.87	5.95	4.84	0.62591	.	0.139270	0.64402	D	0.000004	T	0.04003	0.0112	N	0.02539	-0.55	0.41995	D	0.990861	B	0.11235	0.004	B	0.17098	0.017	T	0.28586	-1.0039	10	0.22706	T	0.39	.	11.8537	0.52425	0.0:0.0677:0.0:0.9323	.	431	Q8TDW0	LRC8C_HUMAN	T	431	ENSP00000359483:I431T	ENSP00000359483:I431T	I	+	2	0	LRRC8C	89952009	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	8.040000	0.89188	1.092000	0.41356	0.528000	0.53228	ATC	LRRC8C	-	NULL	ENSG00000171488		0.393	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	110	0.00	0	T	NM_032270		90179421	90179421	+1	no_errors	ENST00000370454	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	C
LRRC8D	55144	genome.wustl.edu	37	1	90399814	90399814	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:90399814C>A	ENST00000337338.5	+	3	1594	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S396Y	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	396					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AAGGAATATTCTTTCGAAAAA	0.373																																						dbGAP											0													105.0	101.0	102.0					1																	90399814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1187C>A	1.37:g.90399814C>A	ENSP00000338887:p.Ser396Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S396Y	ENST00000337338.5	37	c.1187	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836938	0.71373	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.62232	0.04;0.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.76838	2.35	0.80722	D	1	D	0.60160	0.987	P	0.61003	0.882	T	0.73151	-0.4073	9	.	.	.	.	20.3928	0.98949	0.0:1.0:0.0:0.0	.	396	Q7L1W4	LRC8D_HUMAN	Y	396	ENSP00000338887:S396Y;ENSP00000378093:S396Y	.	S	+	2	0	LRRC8D	90172402	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.814000	0.86154	2.813000	0.96785	0.655000	0.94253	TCT	LRRC8D	-	NULL	ENSG00000171492		0.373	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	137	0.00	0	C	NM_018103		90399814	90399814	+1	no_errors	ENST00000337338	ensembl	human	known	69_37n	missense	100	17.36	21	SNP	1.000	A
LRRC8D	55144	genome.wustl.edu	37	1	90399945	90399945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:90399945G>T	ENST00000337338.5	+	3	1725	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.E440*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	440					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTTCTTGTCAGAAGTTAGTGA	0.413																																						dbGAP											0													68.0	69.0	69.0					1																	90399945		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1318G>T	1.37:g.90399945G>T	ENSP00000338887:p.Glu440*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E440*	ENST00000337338.5	37	c.1318	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.453139	0.98292	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	X	440	.	.	E	+	1	0	LRRC8D	90172533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	GAA	LRRC8D	-	NULL	ENSG00000171492		0.413	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	54	0.00	0	G	NM_018103		90399945	90399945	+1	no_errors	ENST00000337338	ensembl	human	known	69_37n	nonsense	22	29.03	9	SNP	1.000	T
LRRC8D	55144	genome.wustl.edu	37	1	90400314	90400314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:90400314C>T	ENST00000337338.5	+	3	2094	c.1687C>T	c.(1687-1689)Cga>Tga	p.R563*	LRRC8D_ENST00000394593.3_Nonsense_Mutation_p.R563*	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	563					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAAAAACCTTCGAGAGTTGTA	0.428																																						dbGAP											0													66.0	66.0	66.0					1																	90400314		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1687C>T	1.37:g.90400314C>T	ENSP00000338887:p.Arg563*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT29|Q6UWB2|Q9NVW3	Nonsense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R563*	ENST00000337338.5	37	c.1687	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.705580	0.98444	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	.	.	.	6.07	6.07	0.98685	.	0.065991	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	563	.	.	R	+	1	2	LRRC8D	90172902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.577000	0.53885	2.884000	0.98904	0.655000	0.94253	CGA	LRRC8D	-	NULL	ENSG00000171492		0.428	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	62	0.00	0	C	NM_018103		90400314	90400314	+1	no_errors	ENST00000337338	ensembl	human	known	69_37n	nonsense	31	23.81	10	SNP	1.000	T
LRRFIP1	9208	genome.wustl.edu	37	2	238671280	238671280	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:238671280C>A	ENST00000392000.4	+	11	1041	c.924C>A	c.(922-924)atC>atA	p.I308I	LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Silent_p.I252I|LRRFIP1_ENST00000244815.5_Silent_p.I284I	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	308					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.I308I(1)|p.I284I(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAAATGAAATCGTGGCGAATG	0.438																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											60.0	56.0	57.0					2																	238671280		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.924C>A	2.37:g.238671280C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr	p.I308	ENST00000392000.4	37	c.924	CCDS46552.1	2																																																																																			LRRFIP1	-	pfam_Leu-rich_rep_flightless-int_pr	ENSG00000124831		0.438	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	HGNC	protein_coding	OTTHUMT00000317198.1	98	0.00	0	C	NM_004735		238671280	238671280	+1	no_errors	ENST00000392000	ensembl	human	known	69_37n	silent	63	10.00	7	SNP	0.815	A
LRRIQ1	84125	genome.wustl.edu	37	12	85459061	85459061	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:85459061G>T	ENST00000393217.2	+	9	2474	c.2413G>T	c.(2413-2415)Gat>Tat	p.D805Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	805										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)		TACATTTCAAGATTTGCCAGG	0.383																																						dbGAP											0													123.0	118.0	120.0					12																	85459061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2413G>T	12.37:g.85459061G>T	ENSP00000376910:p.Asp805Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.D805Y	ENST00000393217.2	37	c.2413	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769310	0.49680	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25912	1.77	5.69	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.43389	0.1245	L	0.47016	1.485	0.33923	D	0.641098	D;D	0.89917	1.0;1.0	D;D	0.76575	0.978;0.988	T	0.59284	-0.7483	10	0.87932	D	0	.	13.1463	0.59463	0.0742:0.0:0.9258:0.0	.	805;780	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	805;780;805	ENSP00000376910:D805Y	ENSP00000256007:D805Y	D	+	1	0	LRRIQ1	83983192	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	8.154000	0.89641	1.411000	0.46957	-0.157000	0.13467	GAT	LRRIQ1	-	NULL	ENSG00000133640		0.383	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	449	0.00	0	G	NM_032165		85459061	85459061	+1	no_errors	ENST00000393217	ensembl	human	known	69_37n	missense	316	11.73	42	SNP	1.000	T
LRRIQ3	127255	genome.wustl.edu	37	1	74492646	74492646	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:74492646C>A	ENST00000395089.1	-	7	1725	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	LRRIQ3_ENST00000354431.4_Nonsense_Mutation_p.E576*			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	576										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTATATATTTCTTGAGATCTA	0.284																																						dbGAP											0													48.0	44.0	45.0					1																	74492646		1786	4048	5834	-	-	-	SO:0001587	stop_gained	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1726G>T	1.37:g.74492646C>A	ENSP00000378524:p.Glu576*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Nonsense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.E576*	ENST00000395089.1	37	c.1726	CCDS41350.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.76|13.76	2.334641|2.334641	0.41297|0.41297	.|.	.|.	ENSG00000162620|ENSG00000162620	ENST00000395089;ENST00000354431|ENST00000417067	.|.	.|.	.|.	5.05|5.05	3.18|3.18	0.36537|0.36537	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41328	.|0.1154	.|.	.|.	.|.	0.41904|0.41904	D|D	0.990431|0.990431	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.28427	.|-1.0044	.|5	0.45353|0.29301	T|T	0.12|0.29	.|.	8.2211|8.2211	0.31541|0.31541	0.0:0.8115:0.0:0.1885|0.0:0.8115:0.0:0.1885	.|.	.|.	.|.	.|.	X|N	576|46	.|.	ENSP00000346414:E576X|ENSP00000390376:K46N	E|K	-|-	1|3	0|2	LRRIQ3|LRRIQ3	74265234|74265234	0.989000|0.989000	0.36119|0.36119	0.246000|0.246000	0.24233|0.24233	0.014000|0.014000	0.08584|0.08584	1.391000|1.391000	0.34475|0.34475	0.799000|0.799000	0.34018|0.34018	-0.140000|-0.140000	0.14226|0.14226	GAA|AAG	LRRIQ3	-	NULL	ENSG00000162620		0.284	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	179	0.00	0	C	NM_145258		74492646	74492646	-1	no_errors	ENST00000354431	ensembl	human	known	69_37n	nonsense	126	13.10	19	SNP	0.483	A
LRRK1	79705	genome.wustl.edu	37	15	101597072	101597072	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:101597072C>A	ENST00000388948.3	+	28	4703	c.4344C>A	c.(4342-4344)ttC>ttA	p.F1448L	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.F1445L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TAGATATGTTCTCCTATGGAA	0.602																																						dbGAP											0													94.0	97.0	96.0					15																	101597072		2048	4190	6238	-	-	-	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4344C>A	15.37:g.101597072C>A	ENSP00000373600:p.Phe1448Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.F1448L	ENST00000388948.3	37	c.4344	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	c	16.67	3.186782	0.57909	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	D;D	0.94280	-3.39;-3.39	5.0	2.82	0.32997	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.121502	0.56097	D	0.000025	D	0.94857	0.8338	M	0.88842	2.985	0.48288	D	0.999623	P	0.34815	0.47	P	0.46510	0.519	D	0.94133	0.7390	10	0.72032	D	0.01	.	7.1779	0.25755	0.0:0.6243:0.0:0.3757	.	1448	Q38SD2	LRRK1_HUMAN	L	1448;1445;139;2	ENSP00000373600:F1448L;ENSP00000284395:F1445L	ENSP00000284395:F1445L	F	+	3	2	LRRK1	99414595	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.959000	0.29240	1.106000	0.41623	0.466000	0.42574	TTC	LRRK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000154237		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	54	0.00	0	C	NM_024652		101597072	101597072	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	A
LRRK2	120892	genome.wustl.edu	37	12	40692214	40692214	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:40692214A>G	ENST00000298910.7	+	24	3324	c.3266A>G	c.(3265-3267)aAc>aGc	p.N1089S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1089S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1089					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAACAGTTTAACCTGTCATAT	0.393																																						dbGAP											0													138.0	129.0	132.0					12																	40692214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3266A>G	12.37:g.40692214A>G	ENSP00000298910:p.Asn1089Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.N1089S	ENST00000298910.7	37	c.3266	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333177	0.81801	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25912	2.21;1.77	5.85	5.85	0.93711	.	0.047140	0.85682	D	0.000000	T	0.51483	0.1677	M	0.70787	2.145	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.78314	0.991;0.71	T	0.52983	-0.8502	10	0.62326	D	0.03	.	16.2416	0.82411	1.0:0.0:0.0:0.0	.	1089;1089	E9PC85;Q5S007	.;LRRK2_HUMAN	S	1089	ENSP00000341930:N1089S;ENSP00000298910:N1089S	ENSP00000298910:N1089S	N	+	2	0	LRRK2	38978481	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	5.319000	0.65835	2.229000	0.72834	0.533000	0.62120	AAC	LRRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188906		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	214	0.00	0	A	XM_058513		40692214	40692214	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	142	10.13	16	SNP	1.000	G
LRRK2	120892	genome.wustl.edu	37	12	40704384	40704384	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:40704384C>T	ENST00000298910.7	+	31	4527	c.4469C>T	c.(4468-4470)gCc>gTc	p.A1490V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1490	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGTGAATGCCACCGAGGAA	0.433																																						dbGAP											0													201.0	195.0	197.0					12																	40704384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4469C>T	12.37:g.40704384C>T	ENSP00000298910:p.Ala1490Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.A1490V	ENST00000298910.7	37	c.4469	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884575	0.72410	.	.	ENSG00000188906	ENST00000298910	D	0.90261	-2.64	5.53	5.53	0.82687	ROC GTPase (1);	0.000000	0.85682	D	0.000000	D	0.92437	0.7599	M	0.64997	1.995	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	P;P	0.51229	0.582;0.663	D	0.92551	0.6050	10	0.54805	T	0.06	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	1490;1490	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	1490	ENSP00000298910:A1490V	ENSP00000298910:A1490V	A	+	2	0	LRRK2	38990651	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	4.269000	0.58890	2.597000	0.87782	0.650000	0.86243	GCC	LRRK2	-	smart_Small_GTPase_Rab_type	ENSG00000188906		0.433	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	212	0.00	0	C	XM_058513		40704384	40704384	+1	no_errors	ENST00000298910	ensembl	human	known	69_37n	missense	125	25.00	43	SNP	1.000	T
LRWD1	222229	genome.wustl.edu	37	7	102108194	102108194	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:102108194C>T	ENST00000292616.5	+	5	754	c.602C>T	c.(601-603)gCc>gTc	p.A201V	ALKBH4_ENST00000292566.3_5'Flank|MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	201					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GAGCTGGTGGCCGCCAGTAGG	0.652											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													25.0	30.0	28.0					7																	102108194		2058	4058	6116	-	-	-	SO:0001583	missense	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.602C>T	7.37:g.102108194C>T	ENSP00000292616:p.Ala201Val	Somatic	1364	WXS	Illumina GAIIx	Phase_IV	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A201V	ENST00000292616.5	37	c.602	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912441	0.72983	.	.	ENSG00000161036	ENST00000292616	T	0.61627	0.09	5.02	5.02	0.67125	.	0.605997	0.18717	N	0.133131	T	0.57417	0.2052	L	0.54323	1.7	0.38683	D	0.952591	D	0.53151	0.958	P	0.46825	0.528	T	0.57619	-0.7780	10	0.28530	T	0.3	-22.423	13.767	0.63002	0.0:1.0:0.0:0.0	.	201	Q9UFC0	LRWD1_HUMAN	V	201	ENSP00000292616:A201V	ENSP00000292616:A201V	A	+	2	0	LRWD1	101895199	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	2.386000	0.44380	2.625000	0.88918	0.456000	0.33151	GCC	LRWD1	-	NULL	ENSG00000161036		0.652	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	56	0.00	0	C	NM_152892		102108194	102108194	+1	no_errors	ENST00000292616	ensembl	human	known	69_37n	missense	33	17.07	7	SNP	1.000	T
LRRN3	54674	genome.wustl.edu	37	7	110763893	110763893	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:110763893G>T	ENST00000422987.3	+	2	1896	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.E355D|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E355D|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	355					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTACCATTGAGTCTCTGCCAA	0.458																																						dbGAP											0													99.0	88.0	92.0					7																	110763893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1065G>T	7.37:g.110763893G>T	ENSP00000412417:p.Glu355Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E355D	ENST00000422987.3	37	c.1065	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601514	0.46423	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.57595	0.39;0.39;0.39	5.81	0.876	0.19138	.	0.094997	0.45361	D	0.000377	T	0.26919	0.0659	N	0.11313	0.125	0.40332	D	0.978935	B	0.19817	0.039	B	0.20184	0.028	T	0.03175	-1.1064	10	0.27082	T	0.32	.	5.9449	0.19213	0.4143:0.1289:0.4568:0.0	.	355	Q9H3W5	LRRN3_HUMAN	D	355	ENSP00000312001:E355D;ENSP00000397312:E355D;ENSP00000412417:E355D	ENSP00000312001:E355D	E	+	3	2	LRRN3	110551129	0.913000	0.31002	0.982000	0.44146	0.996000	0.88848	0.059000	0.14322	0.084000	0.17077	0.650000	0.86243	GAG	LRRN3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000173114		0.458	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	145	0.00	0	G	NM_018334		110763893	110763893	+1	no_errors	ENST00000308478	ensembl	human	known	69_37n	missense	76	16.48	15	SNP	0.998	T
LSM10	84967	genome.wustl.edu	37	1	36859607	36859607	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:36859607G>A	ENST00000315732.2	-	2	273	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	42					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				TTGTCTATGCGTCCGTGGGCC	0.587																																						dbGAP											0													151.0	123.0	133.0					1																	36859607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF394685	CCDS408.1	1p34.3	2008-02-05			ENSG00000181817	ENSG00000181817			17562	protein-coding gene	gene with protein product						11574479	Standard	NM_032881		Approved	MGC15749	uc001cao.1	Q969L4	OTTHUMG00000008140	ENST00000315732.2:c.124C>T	1.37:g.36859607G>A	ENSP00000319341:p.Arg42Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.R42C	ENST00000315732.2	37	c.124	CCDS408.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099142	0.76983	.	.	ENSG00000181817	ENST00000315732	T	0.46819	0.86	6.17	4.32	0.51571	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.150864	0.56097	D	0.000021	T	0.57227	0.2039	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	P	0.57679	0.825	T	0.56074	-0.8039	10	0.39692	T	0.17	-12.4786	7.4082	0.27004	0.1377:0.0:0.7272:0.1351	.	42	Q969L4	LSM10_HUMAN	C	42	ENSP00000319341:R42C	ENSP00000319341:R42C	R	-	1	0	LSM10	36632194	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	4.013000	0.57138	0.943000	0.37553	0.655000	0.94253	CGC	LSM10	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000181817		0.587	LSM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM10	HGNC	protein_coding	OTTHUMT00000022294.1	105	0.00	0	G	NM_032881		36859607	36859607	-1	no_errors	ENST00000315732	ensembl	human	known	69_37n	missense	39	24.53	13	SNP	1.000	A
LSM11	134353	genome.wustl.edu	37	5	157178487	157178487	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:157178487C>T	ENST00000286307.5	+	2	594	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	180	SM 1.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.R180W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGGACTTCGGGGCGTCTG	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											137.0	132.0	134.0					5																	157178487		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.538C>T	5.37:g.157178487C>T	ENSP00000286307:p.Arg180Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.R180W	ENST00000286307.5	37	c.538	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756550	0.89843	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.87	5.87	0.94306	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	D	0.84511	0.5488	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85183	0.1005	9	0.87932	D	0	-12.0939	20.5827	0.99408	0.0:1.0:0.0:0.0	.	180	P83369	LSM11_HUMAN	W	180	.	ENSP00000286307:R180W	R	+	1	2	LSM11	157111065	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	4.794000	0.62482	2.941000	0.99782	0.655000	0.94253	CGG	LSM11	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.498	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2	242	0.00	0	C	NM_173491		157178487	157178487	+1	no_errors	ENST00000286307	ensembl	human	known	69_37n	missense	157	13.66	25	SNP	1.000	T
LSM3	27258	genome.wustl.edu	37	3	14223156	14223156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:14223156C>T	ENST00000306024.3	+	2	621	c.118C>T	c.(118-120)Cga>Tga	p.R40*	XPC_ENST00000285021.7_5'Flank	NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	40					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R40*(2)		central_nervous_system(1)|large_intestine(2)|ovary(1)	4						CCGAGAGCTTCGAGGCAGATT	0.428																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											92.0	97.0	96.0					3																	14223156		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.118C>T	3.37:g.14223156C>T	ENSP00000302160:p.Arg40*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAH0|Q9Y4Z1	Nonsense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.R40*	ENST00000306024.3	37	c.118	CCDS2619.1	3	.	.	.	.	.	.	.	.	.	.	C	42	9.444847	0.99172	.	.	ENSG00000170860	ENST00000306024	.	.	.	5.5	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9528	14.0025	0.64442	0.2744:0.7256:0.0:0.0	.	.	.	.	X	40	.	ENSP00000302160:R40X	R	+	1	2	LSM3	14198160	0.980000	0.34600	0.997000	0.53966	0.981000	0.71138	2.571000	0.45990	1.285000	0.44548	0.655000	0.94253	CGA	LSM3	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000170860		0.428	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM3	HGNC	protein_coding	OTTHUMT00000252078.3	99	0.00	0	C	NM_014463		14223156	14223156	+1	no_errors	ENST00000306024	ensembl	human	known	69_37n	nonsense	59	14.29	10	SNP	0.997	T
LTBP1	4052	genome.wustl.edu	37	2	33487881	33487881	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:33487881G>T	ENST00000404816.2	+	14	2864	c.2511G>T	c.(2509-2511)caG>caT	p.Q837H	LTBP1_ENST00000354476.3_Missense_Mutation_p.Q837H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q511H|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q511H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q458H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q458H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q511H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	837					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCATCCACAGTTTCCAGGTA	0.413																																						dbGAP											0													74.0	73.0	73.0					2																	33487881		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2511G>T	2.37:g.33487881G>T	ENSP00000386043:p.Gln837His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.Q837H	ENST00000404816.2	37	c.2511	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693458	0.30052	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	T;T;T;T;T;T;T;T;T	0.80994	-1.44;-1.43;-1.38;-1.33;-1.36;-1.34;-1.33;1.69;0.25	5.33	1.47	0.22746	.	.	.	.	.	T	0.64713	0.2623	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.23990	0.057;0.009;0.001;0.007;0.015;0.095	B;B;B;B;B;B	0.19391	0.025;0.011;0.005;0.015;0.009;0.022	T	0.57705	-0.7765	9	0.42905	T	0.14	.	8.5532	0.33465	0.3736:0.0:0.6264:0.0	.	837;511;458;511;511;837	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	H	837;837;511;511;458;458;511;165;154	ENSP00000386043:Q837H;ENSP00000346467:Q837H;ENSP00000374653:Q511H;ENSP00000393057:Q511H;ENSP00000384373:Q458H;ENSP00000385359:Q458H;ENSP00000384091:Q511H;ENSP00000415412:Q165H;ENSP00000417591:Q154H	ENSP00000346467:Q837H	Q	+	3	2	LTBP1	33341385	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	0.918000	0.28678	0.622000	0.30249	0.655000	0.94253	CAG	LTBP1	-	NULL	ENSG00000049323		0.413	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	175	0.00	0	G	NM_206943		33487881	33487881	+1	no_errors	ENST00000354476	ensembl	human	known	69_37n	missense	125	10.07	14	SNP	0.998	T
LTK	4058	genome.wustl.edu	37	15	41799756	41799756	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:41799756G>A	ENST00000263800.6	-	10	1442				LTK_ENST00000561619.1_Missense_Mutation_p.T132M|LTK_ENST00000355166.5_Intron|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase						cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TAGACGCTTCGTACCCAGAAT	0.597										TSP Lung(18;0.14)																												dbGAP											0													76.0	65.0	69.0					15																	41799756		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1345+3C>T	15.37:g.41799756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T132M	ENST00000263800.6	37	c.395	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923339	0.33908	.	.	ENSG00000062524	ENST00000360087	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	T	0.28234	0.0697	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.38286	-0.9668	5	0.54805	T	0.06	.	3.5253	0.07757	0.5764:0.1427:0.0932:0.1877	.	.	.	.	M	450	.	ENSP00000353200:T450M	T	-	2	0	LTK	39587048	0.000000	0.05858	0.000000	0.03702	0.826000	0.46750	-1.316000	0.02710	-3.084000	0.00250	-0.258000	0.10820	ACG	LTK	-	NULL	ENSG00000062524		0.597	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	66	0.00	0	G			41799756	41799756	-1	no_errors	ENST00000561619	ensembl	human	novel	69_37n	missense	33	15.38	6	SNP	0.000	A
LUZP4	51213	genome.wustl.edu	37	X	114524333	114524333	+	Missense_Mutation	SNP	C	C	T	rs150784740		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:114524333C>T	ENST00000371920.3	+	1	15	c.8C>T	c.(7-9)tCg>tTg	p.S3L	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	3						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAGATGGCTTCGTTTCGGAAG	0.527																																						dbGAP											0													106.0	83.0	91.0					X																	114524333		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.8C>T	X.37:g.114524333C>T	ENSP00000360988:p.Ser3Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSD6	Missense_Mutation	SNP	NULL	p.S3L	ENST00000371920.3	37	c.8	CCDS14567.1	X	.	.	.	.	.	.	.	.	.	.	c	15.11	2.737368	0.49045	.	.	ENSG00000102021	ENST00000371921;ENST00000371920	T;T	0.57436	0.4;1.02	2.25	2.25	0.28309	.	.	.	.	.	T	0.52837	0.1759	N	0.24115	0.695	0.24711	N	0.993203	D	0.76494	0.999	D	0.64595	0.927	T	0.36237	-0.9756	9	0.87932	D	0	.	7.3406	0.26635	0.0:1.0:0.0:0.0	.	3	Q9P127	LUZP4_HUMAN	L	3	ENSP00000360989:S3L;ENSP00000360988:S3L	ENSP00000360988:S3L	S	+	2	0	LUZP4	114430589	0.214000	0.23563	0.043000	0.18650	0.008000	0.06430	1.046000	0.30354	1.422000	0.47177	0.597000	0.82753	TCG	LUZP4	-	NULL	ENSG00000102021		0.527	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LUZP4	HGNC	protein_coding	OTTHUMT00000057972.1	208	0.00	0	C	NM_016383		114524333	114524333	+1	no_errors	ENST00000371920	ensembl	human	known	69_37n	missense	158	12.71	23	SNP	0.039	T
LY6D	8581	genome.wustl.edu	37	8	143867012	143867012	+	Silent	SNP	C	C	T	rs562216603		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:143867012C>T	ENST00000301263.4	-	2	219	c.144G>A	c.(142-144)acG>acA	p.T48T	LY6D_ENST00000518434.1_5'UTR|RP11-706C16.8_ENST00000510610.2_RNA	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	48	UPAR/Ly6.				cell adhesion (GO:0007155)|lymphocyte differentiation (GO:0030098)|response to stilbenoid (GO:0035634)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|membrane (GO:0016020)|plasma membrane (GO:0005886)				large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACCTGTGTTCGTGGTCTTGC	0.647																																						dbGAP											0													75.0	73.0	74.0					8																	143867012		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66837	CCDS6390.1	8q24	2004-07-06			ENSG00000167656	ENSG00000167656			13348	protein-coding gene	gene with protein product		606204				7790363, 9551972	Standard	NM_003695		Approved	E48	uc003yxf.1	Q14210	OTTHUMG00000164693	ENST00000301263.4:c.144G>A	8.37:g.143867012C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5F1|D3DWJ0|O43783|Q6GTV9|Q8TBD4|Q92933	Silent	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.T48	ENST00000301263.4	37	c.144	CCDS6390.1	8																																																																																			LY6D	-	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	ENSG00000167656		0.647	LY6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6D	HGNC	protein_coding	OTTHUMT00000379774.1	45	0.00	0	C	NM_003695		143867012	143867012	-1	no_errors	ENST00000301263	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	0.000	T
LY75	4065	genome.wustl.edu	37	2	160706652	160706652	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:160706652C>A	ENST00000263636.4	-	23	3017		c.e23-1		LY75_ENST00000553424.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTAATAAAGTCTGTTAGAAAG	0.294																																						dbGAP											0													57.0	56.0	56.0					2																	160706652		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.2990-1G>T	2.37:g.160706652C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	-	e23-1	ENST00000263636.4	37	c.2990-1	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894903	0.72639	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7926	0.78376	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LY75;LY75-CD302	160414898	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.681000	0.61663	2.459000	0.83118	0.591000	0.81541	.	LY75	-	-	ENSG00000054219		0.294	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	243	0.00	0	C		Intron	160706652	160706652	-1	no_errors	ENST00000554112	ensembl	human	known	69_37n	splice_site	170	12.37	24	SNP	1.000	A
LY9	4063	genome.wustl.edu	37	1	160786632	160786632	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160786632C>A	ENST00000263285.6	+	5	1351	c.1321C>A	c.(1321-1323)Ctt>Att	p.L441I	LY9_ENST00000341032.4_Intron|LY9_ENST00000368037.5_Missense_Mutation_p.L441I|LY9_ENST00000368041.2_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.L93I			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	441	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCACCAGTTTCTTTCTGAGAA	0.483																																						dbGAP											0													119.0	118.0	119.0					1																	160786632		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1321C>A	1.37:g.160786632C>A	ENSP00000263285:p.Leu441Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.L441I	ENST00000263285.6	37	c.1321	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	C	7.901	0.734494	0.15574	.	.	ENSG00000122224	ENST00000368041;ENST00000368040;ENST00000263285;ENST00000368037;ENST00000368035	T;T;T	0.37235	1.21;1.21;1.21	4.53	0.115	0.14643	Immunoglobulin-like (1);	.	.	.	.	T	0.09686	0.0238	L	0.35593	1.075	0.09310	N	1	B;B;B	0.30326	0.276;0.275;0.18	B;B;B	0.30782	0.111;0.12;0.056	T	0.28618	-1.0038	9	0.49607	T	0.09	1.5452	4.7472	0.13043	0.0:0.453:0.3411:0.2059	.	93;441;441	Q5VYI1;Q9HBG7-2;Q9HBG7	.;.;LY9_HUMAN	I	441;93;441;401;93	ENSP00000357019:L93I;ENSP00000263285:L441I;ENSP00000357014:L93I	ENSP00000263285:L441I	L	+	1	0	LY9	159053256	0.000000	0.05858	0.019000	0.16419	0.194000	0.23727	0.009000	0.13219	-0.186000	0.10533	0.563000	0.77884	CTT	LY9	-	pfscan_Ig-like	ENSG00000122224		0.483	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	186	0.53	1	C	NM_002348		160786632	160786632	+1	no_errors	ENST00000263285	ensembl	human	known	69_37n	missense	125	26.04	44	SNP	0.004	A
LYAR	55646	genome.wustl.edu	37	4	4269647	4269647	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:4269647A>C	ENST00000343470.4	-	10	1349	c.1109T>G	c.(1108-1110)tTa>tGa	p.L370*	LYAR_ENST00000452476.1_Nonsense_Mutation_p.L370*	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	370	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCCTTTAATAACTTAAAGGT	0.363																																						dbGAP											0													97.0	92.0	94.0					4																	4269647		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.1109T>G	4.37:g.4269647A>C	ENSP00000345917:p.Leu370*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVS4|Q6FI78|Q9NYS1	Nonsense_Mutation	SNP	pfam_Znf_C2H2_LYAR	p.L370*	ENST00000343470.4	37	c.1109	CCDS3374.1	4	.	.	.	.	.	.	.	.	.	.	A	37	5.997774	0.97184	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	.	.	.	6.17	6.17	0.99709	.	0.511850	0.20766	N	0.086068	.	.	.	.	.	.	0.38414	D	0.946017	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-1.8937	16.4957	0.84242	1.0:0.0:0.0:0.0	.	.	.	.	X	370	.	ENSP00000345917:L370X	L	-	2	0	LYAR	4320548	0.736000	0.28164	0.004000	0.12327	0.763000	0.43281	7.305000	0.78891	2.371000	0.80710	0.533000	0.62120	TTA	LYAR	-	NULL	ENSG00000145220		0.363	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYAR	HGNC	protein_coding	OTTHUMT00000246800.2	248	0.00	0	A	NM_017816		4269647	4269647	-1	no_errors	ENST00000343470	ensembl	human	known	69_37n	nonsense	128	30.05	55	SNP	0.055	C
LYN	4067	genome.wustl.edu	37	8	56922572	56922572	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:56922572A>C	ENST00000519728.1	+	13	1738	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	LYN_ENST00000520220.2_Missense_Mutation_p.K460T	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	ATGTGCTGGAAAGAAAAGGCA	0.517																																						dbGAP											0													100.0	90.0	93.0					8																	56922572		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1442A>C	8.37:g.56922572A>C	ENSP00000428924:p.Lys481Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.K481T	ENST00000519728.1	37	c.1442	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550664	0.86127	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.82893	-1.66;-1.66	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	N	0.13168	0.305	0.80722	D	1	P;B	0.37466	0.596;0.275	P;P	0.47705	0.555;0.497	T	0.82499	-0.0427	10	0.62326	D	0.03	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	551;481	Q6NUK7;P07948	.;LYN_HUMAN	T	481;460	ENSP00000428924:K481T;ENSP00000428424:K460T	ENSP00000428924:K481T	K	+	2	0	LYN	57085126	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	6.377000	0.73145	2.233000	0.73108	0.533000	0.62120	AAA	LYN	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000254087		0.517	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	96	0.00	0	A	NM_002350		56922572	56922572	+1	no_errors	ENST00000519728	ensembl	human	known	69_37n	missense	81	21.36	22	SNP	1.000	C
LYPLAL1	127018	genome.wustl.edu	37	1	219366644	219366644	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:219366644C>A	ENST00000366928.5	+	3	408				LYPLAL1_ENST00000366927.3_Intron|LYPLAL1_ENST00000483635.1_Intron	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1						negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTGTCTAATTCTATACATCAA	0.294																																						dbGAP											0													32.0	32.0	32.0					1																	219366644		2203	4291	6494	-	-	-	SO:0001627	intron_variant	0			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.361+51C>A	1.37:g.219366644C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	RNA	SNP	-	NULL	ENST00000366928.5	37	NULL	CCDS1522.1	1																																																																																			LYPLAL1	-	-	ENSG00000143353		0.294	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	103	0.00	0	C	NM_138794		219366644	219366644	+1	no_errors	ENST00000496776	ensembl	human	known	69_37n	rna	90	35.71	50	SNP	0.002	A
LYSMD2	256586	genome.wustl.edu	37	15	52016997	52016997	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52016997C>A	ENST00000267838.3	-	2	1109	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	LYSMD2_ENST00000558126.1_Nonsense_Mutation_p.E92*|LYSMD2_ENST00000560491.1_Nonsense_Mutation_p.E108*|LYSMD2_ENST00000454181.2_Nonsense_Mutation_p.E108*	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	199										lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		CTGCTCTCTTCTTTTAGCTTC	0.413																																						dbGAP											0													57.0	53.0	54.0					15																	52016997		2195	4293	6488	-	-	-	SO:0001587	stop_gained	0			AY125955	CCDS10143.1, CCDS45259.1	15q21.2	2005-08-09			ENSG00000140280	ENSG00000140280			28571	protein-coding gene	gene with protein product						12477932	Standard	NM_153374		Approved	MGC35274	uc002abi.3	Q8IV50	OTTHUMG00000131804	ENST00000267838.3:c.595G>T	15.37:g.52016997C>A	ENSP00000267838:p.Glu199*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ88|Q8WTV3	Nonsense_Mutation	SNP	pfam_Peptidoglycan-bd_lysin,smart_Peptidoglycan-bd_Lysin_subgr	p.E199*	ENST00000267838.3	37	c.595	CCDS10143.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119067	0.77323	.	.	ENSG00000140280	ENST00000267838;ENST00000454181	.	.	.	4.81	3.87	0.44632	.	0.305306	0.39544	N	0.001328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.4526	14.8164	0.70039	0.0:0.7263:0.2737:0.0	.	.	.	.	X	199;108	.	ENSP00000267838:E199X	E	-	1	0	LYSMD2	49804289	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.304000	0.59104	1.295000	0.44724	0.655000	0.94253	GAA	LYSMD2	-	NULL	ENSG00000140280		0.413	LYSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD2	HGNC	protein_coding	OTTHUMT00000254741.1	40	0.00	0	C	NM_153374		52016997	52016997	-1	no_errors	ENST00000267838	ensembl	human	known	69_37n	nonsense	39	13.33	6	SNP	1.000	A
LYSMD4	145748	genome.wustl.edu	37	15	100269825	100269825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:100269825C>A	ENST00000409796.1	-	3	456	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.E132*|LYSMD4_ENST00000545021.1_Nonsense_Mutation_p.E6*|LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.E133*|LYSMD4_ENST00000604213.1_Intron	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	132						integral component of membrane (GO:0016021)		p.E133K(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GGTTTCAGTTCTTTGTGGGTC	0.522																																						dbGAP											1	Substitution - Missense(1)	lung(1)											81.0	78.0	79.0					15																	100269825		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.394G>T	15.37:g.100269825C>A	ENSP00000386283:p.Glu132*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NII6|A8K2N1|Q96LY7	Nonsense_Mutation	SNP	NULL	p.E133*	ENST00000409796.1	37	c.397		15	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468667	0.63625	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	.	.	.	4.83	4.83	0.62350	.	0.163209	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-6.9586	18.3024	0.90168	0.0:1.0:0.0:0.0	.	.	.	.	X	132;133;132;6	.	ENSP00000333008:E132X	E	-	1	0	LYSMD4	98087348	0.995000	0.38212	0.977000	0.42913	0.621000	0.37620	4.109000	0.57824	2.383000	0.81215	0.655000	0.94253	GAA	LYSMD4	-	NULL	ENSG00000183060		0.522	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000335634.1	50	0.00	0	C	NM_152449		100269825	100269825	-1	no_errors	ENST00000344791	ensembl	human	known	69_37n	nonsense	49	25.76	17	SNP	0.946	A
LYST	1130	genome.wustl.edu	37	1	235909794	235909794	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:235909794G>A	ENST00000389794.3	-	29	7988	c.7814C>T	c.(7813-7815)tCg>tTg	p.S2605L	LYST_ENST00000389793.2_Missense_Mutation_p.S2605L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2605					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATCAGAAGCGATTCAGTTTG	0.388																																						dbGAP											0													81.0	68.0	72.0					1																	235909794		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7814C>T	1.37:g.235909794G>A	ENSP00000374444:p.Ser2605Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2605L	ENST00000389794.3	37	c.7814	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721578	0.68959	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65549	-0.16;-0.16	5.5	5.5	0.81552	.	0.480094	0.26311	N	0.025101	T	0.57858	0.2082	L	0.60455	1.87	0.80722	D	1	P	0.36010	0.532	B	0.20955	0.032	T	0.64210	-0.6461	10	0.72032	D	0.01	.	19.392	0.94587	0.0:0.0:1.0:0.0	.	2605	Q99698	LYST_HUMAN	L	2605	ENSP00000374444:S2605L;ENSP00000374443:S2605L	ENSP00000374443:S2605L	S	-	2	0	LYST	233976417	1.000000	0.71417	0.504000	0.27639	0.208000	0.24298	7.548000	0.82154	2.580000	0.87095	0.591000	0.81541	TCG	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	189	0.00	0	G			235909794	235909794	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	120	30.23	52	SNP	1.000	A
LYST	1130	genome.wustl.edu	37	1	235972815	235972815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:235972815C>A	ENST00000389794.3	-	5	1477	c.1303G>T	c.(1303-1305)Gaa>Taa	p.E435*	LYST_ENST00000536965.1_Nonsense_Mutation_p.E435*|LYST_ENST00000389793.2_Nonsense_Mutation_p.E435*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	435					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAATGAATTCTTGAACCAAA	0.413																																						dbGAP											0													69.0	70.0	70.0					1																	235972815		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1303G>T	1.37:g.235972815C>A	ENSP00000374444:p.Glu435*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E435*	ENST00000389794.3	37	c.1303	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.028563	0.99040	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	435	.	ENSP00000374443:E435X	E	-	1	0	LYST	234039438	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.774000	0.95407	0.655000	0.94253	GAA	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	83	0.00	0	C			235972815	235972815	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	nonsense	63	10.00	7	SNP	1.000	A
LYZL2	119180	genome.wustl.edu	37	10	30915044	30915044	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:30915044G>A	ENST00000375318.2	-	3	482	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	96					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CTGAGCAGGCGACGTGGCAGT	0.547																																						dbGAP											0													164.0	143.0	150.0					10																	30915044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.426C>T	10.37:g.30915044G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NZ69	Silent	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.V142	ENST00000375318.2	37	c.426	CCDS7167.2	10																																																																																			LYZL2	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	ENSG00000151033		0.547	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL2	HGNC	protein_coding	OTTHUMT00000047434.1	278	0.00	0	G	NM_183058		30915044	30915044	-1	no_errors	ENST00000375318	ensembl	human	known	69_37n	silent	113	25.66	39	SNP	0.932	A
LZTS1	11178	genome.wustl.edu	37	8	20112663	20112663	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:20112663G>A	ENST00000381569.1	-	2	387	c.30C>T	c.(28-30)ggC>ggT	p.G10G	LZTS1_ENST00000522290.1_Silent_p.G10G|LZTS1_ENST00000265801.6_Silent_p.G10G			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	10					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGAAGCTGTGGCCGGAGATGA	0.637																																						dbGAP											0													43.0	44.0	44.0					8																	20112663		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.30C>T	8.37:g.20112663G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	pfam_Fez1	p.G10	ENST00000381569.1	37	c.30	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.637	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	53	0.00	0	G	NM_021020		20112663	20112663	-1	no_errors	ENST00000265801	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	1.000	A
LZTS2	84445	genome.wustl.edu	37	10	102762435	102762435	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:102762435A>C	ENST00000370220.1	+	1	3203	c.140A>C	c.(139-141)cAc>cCc	p.H47P	LZTS2_ENST00000370223.3_Missense_Mutation_p.H47P					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CCTCCCCGCCACCACGGCCCT	0.687																																					Esophageal Squamous(8;38 437 13604 19902 37640)	dbGAP											0													36.0	44.0	41.0					10																	102762435		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.140A>C	10.37:g.102762435A>C	ENSP00000359240:p.His47Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fez1	p.H47P	ENST00000370220.1	37	c.140	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	A	17.46	3.396384	0.62177	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	T;T	0.31769	1.48;1.48	4.67	4.67	0.58626	.	0.182670	0.49916	D	0.000138	T	0.22126	0.0533	N	0.22421	0.69	0.32035	N	0.599009	P	0.52316	0.952	B	0.42738	0.396	T	0.16217	-1.0410	10	0.34782	T	0.22	-19.7784	12.3408	0.55093	1.0:0.0:0.0:0.0	.	47	Q9BRK4	LZTS2_HUMAN	P	47	ENSP00000359243:H47P;ENSP00000359240:H47P	ENSP00000314437:H47P	H	+	2	0	LZTS2	102752425	0.605000	0.26941	0.999000	0.59377	0.573000	0.36030	1.304000	0.33482	1.847000	0.53656	0.459000	0.35465	CAC	LZTS2	-	NULL	ENSG00000107816		0.687	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	20	0.00	0	A	XM_046743		102762435	102762435	+1	no_errors	ENST00000370220	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	0.981	C
LZTS2	84445	genome.wustl.edu	37	10	102763660	102763660	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:102763660T>C	ENST00000370220.1	+	2	3868	c.805T>C	c.(805-807)Tcc>Ccc	p.S269P	LZTS2_ENST00000370223.3_Missense_Mutation_p.S269P					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TACTGGGCCCTCCCACTCAGA	0.711																																					Esophageal Squamous(8;38 437 13604 19902 37640)	dbGAP											0													23.0	30.0	28.0					10																	102763660		2202	4296	6498	-	-	-	SO:0001583	missense	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.805T>C	10.37:g.102763660T>C	ENSP00000359240:p.Ser269Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fez1	p.S269P	ENST00000370220.1	37	c.805	CCDS7507.1	10	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108322	0.77096	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.58210	0.35;0.35	5.01	3.87	0.44632	.	0.181750	0.39020	N	0.001482	T	0.38401	0.1039	L	0.42245	1.32	0.38611	D	0.950896	B	0.12013	0.005	B	0.11329	0.006	T	0.30179	-0.9987	9	.	.	.	-21.6672	5.5835	0.17262	0.1526:0.0823:0.0:0.7651	.	269	Q9BRK4	LZTS2_HUMAN	P	269	ENSP00000359243:S269P;ENSP00000359240:S269P	.	S	+	1	0	LZTS2	102753650	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.463000	0.21972	1.997000	0.58415	0.459000	0.35465	TCC	LZTS2	-	NULL	ENSG00000107816		0.711	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	25	0.00	0	T	XM_046743		102763660	102763660	+1	no_errors	ENST00000370220	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	C
MAB21L2	10586	genome.wustl.edu	37	4	151504852	151504852	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:151504852C>T	ENST00000317605.4	+	1	1776	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	224					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AAGCAGAGCTCGGCAGAGAGC	0.637																																						dbGAP											0													36.0	38.0	38.0					4																	151504852		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.671C>T	4.37:g.151504852C>T	ENSP00000324701:p.Ser224Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP37|Q9HBA7	Missense_Mutation	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.S224L	ENST00000317605.4	37	c.671	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943498	0.53079	.	.	ENSG00000181541	ENST00000317605	T	0.09911	2.93	5.55	4.7	0.59300	Ricin B lectin (1);	0.068369	0.64402	D	0.000009	T	0.11153	0.0272	L	0.51422	1.61	0.58432	D	0.999995	P	0.48089	0.905	B	0.41571	0.36	T	0.13791	-1.0496	10	0.10111	T	0.7	-8.657	14.0366	0.64649	0.0:0.9278:0.0:0.0722	.	224	Q9Y586	MB212_HUMAN	L	224	ENSP00000324701:S224L	ENSP00000324701:S224L	S	+	2	0	MAB21L2	151724302	1.000000	0.71417	0.784000	0.31847	0.977000	0.68977	7.818000	0.86416	1.345000	0.45676	0.462000	0.41574	TCG	MAB21L2	-	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	ENSG00000181541		0.637	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1	38	0.00	0	C	NM_006439		151504852	151504852	+1	no_errors	ENST00000317605	ensembl	human	known	69_37n	missense	13	33.33	7	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39812688	39812688	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:39812688G>A	ENST00000372915.3	+	40	10723	c.10636G>A	c.(10636-10638)Gat>Aat	p.D3546N	MACF1_ENST00000564288.1_Missense_Mutation_p.D3541N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.D3578N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.D1981N|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3546					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTCAGCTGGATGCTCTTGC	0.418																																						dbGAP											0													96.0	93.0	94.0					1																	39812688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10636G>A	1.37:g.39812688G>A	ENSP00000362006:p.Asp3546Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D3578N	ENST00000372915.3	37	c.10732		1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.284046	0.40394	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.36520	1.25;1.25	5.3	4.39	0.52855	.	0.481216	0.18905	N	0.127926	T	0.34048	0.0884	L	0.48362	1.52	0.80722	D	1	B	0.29988	0.264	B	0.30716	0.119	T	0.12604	-1.0541	10	0.48119	T	0.1	.	13.4709	0.61281	0.0748:0.0:0.9252:0.0	.	3546	Q9UPN3	MACF1_HUMAN	N	3546;1981	ENSP00000362006:D3546N;ENSP00000289893:D1981N	ENSP00000289893:D1981N	D	+	1	0	MACF1	39585275	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.972000	0.76110	1.246000	0.43901	0.655000	0.94253	GAT	MACF1	-	superfamily_RNaseH-like_dom,smart_Spectrin/alpha-actinin	ENSG00000127603		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	333	0.00	0	G	NM_033044		39812688	39812688	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	missense	180	25.62	62	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39812755	39812755	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:39812755A>C	ENST00000372915.3	+	40	10790	c.10703A>C	c.(10702-10704)aAt>aCt	p.N3568T	MACF1_ENST00000564288.1_Missense_Mutation_p.N3563T|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.N3600T|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.N2003T|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3568					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTCAGCAGAATCGACAGATG	0.498																																						dbGAP											0													107.0	104.0	105.0					1																	39812755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10703A>C	1.37:g.39812755A>C	ENSP00000362006:p.Asn3568Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.N3600T	ENST00000372915.3	37	c.10799		1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768239	0.31320	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.33438	1.41;1.41	5.51	1.9	0.25705	.	0.627510	0.15442	N	0.262157	T	0.22742	0.0549	L	0.40543	1.245	0.80722	D	1	B	0.16396	0.017	B	0.23150	0.044	T	0.04767	-1.0928	10	0.36615	T	0.2	.	6.4779	0.22047	0.4202:0.0:0.5798:0.0	.	3568	Q9UPN3	MACF1_HUMAN	T	3568;2003	ENSP00000362006:N3568T;ENSP00000289893:N2003T	ENSP00000289893:N2003T	N	+	2	0	MACF1	39585342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.013000	0.49582	0.407000	0.25591	0.533000	0.62120	AAT	MACF1	-	superfamily_RNaseH-like_dom,smart_Spectrin/alpha-actinin	ENSG00000127603		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	278	0.00	0	A	NM_033044		39812755	39812755	+1	no_errors	ENST00000567887	ensembl	human	putative	69_37n	missense	179	13.11	27	SNP	1.000	C
MACF1	23499	genome.wustl.edu	37	1	39853533	39853533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:39853533G>T	ENST00000372915.3	+	57	15121	c.15034G>T	c.(15034-15036)Gaa>Taa	p.E5012*	MACF1_ENST00000564288.1_Nonsense_Mutation_p.E5007*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E2945*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E2945*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E2945*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E5044*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E2924*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E3447*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5012					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCACTCGAAGAAATGACTCA	0.473																																						dbGAP											0													66.0	69.0	68.0					1																	39853533		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15034G>T	1.37:g.39853533G>T	ENSP00000362006:p.Glu5012*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2945*	ENST00000372915.3	37	c.8833		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.380416|12.380416	0.99662|0.99662	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	.|T	.|0.77638	.|0.4160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73658	.|-0.3913	.|4	0.40728|.	T|.	0.16|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2945;5012;2945;2945;2924;3447|2057	.|.	ENSP00000289893:E3447X|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39626120|39626120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.968000|7.968000	0.87980|0.87980	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA	MACF1	-	pfam_Spectrin_repeat	ENSG00000127603		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	80	0.00	0	G	NM_033044		39853533	39853533	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	nonsense	71	18.39	16	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39913781	39913781	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:39913781C>T	ENST00000372915.3	+	82	19829	c.19742C>T	c.(19741-19743)tCc>tTc	p.S6581F	MACF1_ENST00000564288.1_Missense_Mutation_p.S6682F|MACF1_ENST00000545844.1_Missense_Mutation_p.S4623F|MACF1_ENST00000361689.2_Missense_Mutation_p.S4623F|MACF1_ENST00000317713.7_Missense_Mutation_p.S4623F|MACF1_ENST00000567887.1_Missense_Mutation_p.S6719F|MACF1_ENST00000539005.1_Missense_Mutation_p.S4493F|MACF1_ENST00000289893.4_Missense_Mutation_p.S5125F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6581					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTAGAGATATCCAATGACCCA	0.373																																						dbGAP											0													95.0	98.0	97.0					1																	39913781		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19742C>T	1.37:g.39913781C>T	ENSP00000362006:p.Ser6581Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S4623F	ENST00000372915.3	37	c.13868		1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966505	0.74131	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.76	4.85	0.62838	.	0.000000	0.64402	D	0.000014	T	0.62368	0.2422	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.983	T	0.65586	-0.6132	10	0.72032	D	0.01	.	14.8538	0.70319	0.0:0.931:0.0:0.069	.	6581;4623	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	F	4623;6581;4623;4623;4493;5125	ENSP00000439537:S4623F;ENSP00000362006:S6581F;ENSP00000354573:S4623F;ENSP00000313438:S4623F;ENSP00000444364:S4493F;ENSP00000289893:S5125F	ENSP00000289893:S5125F	S	+	2	0	MACF1	39686368	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.999000	0.70665	1.447000	0.47661	0.655000	0.94253	TCC	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.373	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	257	0.00	0	C	NM_033044		39913781	39913781	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	164	12.70	24	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39914343	39914343	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:39914343G>T	ENST00000372915.3	+	83	19950	c.19863G>T	c.(19861-19863)aaG>aaT	p.K6621N	MACF1_ENST00000564288.1_Missense_Mutation_p.K6722N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4663N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4663N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4663N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6759N|MACF1_ENST00000539005.1_Missense_Mutation_p.K4533N|MACF1_ENST00000289893.4_Missense_Mutation_p.K5165N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6621					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAAAGAAAAGACTTTGCTTC	0.433																																						dbGAP											0													87.0	89.0	88.0					1																	39914343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19863G>T	1.37:g.39914343G>T	ENSP00000362006:p.Lys6621Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K4663N	ENST00000372915.3	37	c.13989		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.097392|4.097392	0.76870|0.76870	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.47528	.|0.84;0.84;0.84;0.84;0.84;0.84	6.17|6.17	5.27|5.27	0.74061|0.74061	.|.	.|0.086098	.|0.49916	.|D	.|0.000130	T|T	0.67050|0.67050	0.2852|0.2852	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.70702|0.70702	-0.4799|-0.4799	5|10	.|0.72032	.|D	.|0.01	.|.	10.0361|10.0361	0.42129|0.42129	0.1884:0.0:0.8116:0.0|0.1884:0.0:0.8116:0.0	.|.	.|6621;4663	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	Y|N	3667|4663;6621;4663;4663;4533;5165	.|ENSP00000439537:K4663N;ENSP00000362006:K6621N;ENSP00000354573:K4663N;ENSP00000313438:K4663N;ENSP00000444364:K4533N;ENSP00000289893:K5165N	.|ENSP00000289893:K5165N	D|K	+|+	1|3	0|2	MACF1|MACF1	39686930|39686930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.432000|2.432000	0.44784|0.44784	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GAC|AAG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	284	0.00	0	G	NM_033044		39914343	39914343	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	181	19.91	45	SNP	1.000	T
MACROD2	140733	genome.wustl.edu	37	20	15210642	15210642	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:15210642G>A	ENST00000310348.4	+	6	475	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Missense_Mutation_p.E159K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	159	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTCCCACAAGGAAGACCTTGC	0.363																																						dbGAP											0													94.0	89.0	91.0					20																	15210642		1813	4066	5879	-	-	-	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.475G>A	20.37:g.15210642G>A	ENSP00000309809:p.Glu159Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.E159K	ENST00000310348.4	37	c.475	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612497	0.87258	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.25085	1.82;1.82	5.76	5.76	0.90799	Appr-1-p processing (3);	0.240337	0.34700	N	0.003744	T	0.40297	0.1111	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.865	T	0.02617	-1.1133	10	0.36615	T	0.2	-12.4212	15.7857	0.78300	0.0:0.1355:0.8645:0.0	.	159;159	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	159	ENSP00000217246:E159K;ENSP00000309809:E159K	ENSP00000217246:E159K	E	+	1	0	MACROD2	15158642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.124000	0.57924	2.880000	0.98712	0.650000	0.86243	GAA	MACROD2	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000172264		0.363	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		328	0.00	0	G	NM_080676		15210642	15210642	+1	no_errors	ENST00000310348	ensembl	human	known	69_37n	missense	197	16.88	40	SNP	1.000	A
MADD	8567	genome.wustl.edu	37	11	47297573	47297573	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:47297573C>A	ENST00000311027.5	+	4	948	c.783C>A	c.(781-783)gtC>gtA	p.V261V	MADD_ENST00000402192.2_Silent_p.V261V|MADD_ENST00000349238.3_Silent_p.V261V|MADD_ENST00000395336.3_Silent_p.V261V|MADD_ENST00000395344.3_Silent_p.V261V|MADD_ENST00000402799.1_Silent_p.V261V|MADD_ENST00000406482.1_Silent_p.V261V|MADD_ENST00000342922.4_Silent_p.V261V|MADD_ENST00000407859.3_Silent_p.V261V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGTACCCGTCTCTGGGCAGA	0.557																																						dbGAP											0													132.0	107.0	115.0					11																	47297573		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.783C>A	11.37:g.47297573C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.V261	ENST00000311027.5	37	c.783	CCDS7930.1	11																																																																																			MADD	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000110514		0.557	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	188	0.00	0	C			47297573	47297573	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	silent	112	14.50	19	SNP	0.955	A
MAEA	10296	genome.wustl.edu	37	4	1306007	1306007	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:1306007G>A	ENST00000303400.4	+	2	315				MAEA_ENST00000264750.6_Intron|MAEA_ENST00000505839.1_Intron|MAEA_ENST00000510794.1_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Intron|MAEA_ENST00000505177.2_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CTTTTGTCTCGAAAATGAGTC	0.627																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.252+58G>A	4.37:g.1306007G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	NULL	p.E104K	ENST00000303400.4	37	c.310	CCDS33936.1	4																																																																																			MAEA	-	NULL	ENSG00000090316		0.627	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	18	0.00	0	G	NM_005882		1306007	1306007	+1	no_errors	ENST00000509254	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.000	A
MAGEB10	139422	genome.wustl.edu	37	X	27840083	27840083	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:27840083G>T	ENST00000356790.2	+	3	905	c.660G>T	c.(658-660)gaG>gaT	p.E220D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GTGTCGCTGAGGAGGAAGTCT	0.483																																						dbGAP											0													63.0	52.0	56.0					X																	27840083		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.660G>T	X.37:g.27840083G>T	ENSP00000368304:p.Glu220Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E220D	ENST00000356790.2	37	c.660	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175928	0.38413	.	.	ENSG00000177689	ENST00000356790	T	0.07800	3.16	2.62	-0.467	0.12150	.	0.067788	0.56097	U	0.000029	T	0.23492	0.0568	M	0.87971	2.92	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11251	-1.0595	10	0.87932	D	0	.	2.1502	0.03797	0.3299:0.0:0.4188:0.2513	.	220	Q96LZ2	MAGBA_HUMAN	D	220	ENSP00000368304:E220D	ENSP00000368304:E220D	E	+	3	2	MAGEB10	27750004	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.186000	0.09670	-0.256000	0.09473	0.422000	0.28245	GAG	MAGEB10	-	pfam_MAGE,pfscan_MAGE	ENSG00000177689		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	74	0.00	0	G	NM_182506		27840083	27840083	+1	no_errors	ENST00000356790	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	0.005	T
MAGEB6	158809	genome.wustl.edu	37	X	26212640	26212640	+	Missense_Mutation	SNP	G	G	A	rs187176082		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:26212640G>A	ENST00000379034.1	+	2	826	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	226	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAGTGTGTCCGCAGAGAGTAC	0.488													.|||	1	0.000264901	0.0	0.0	3775	,	,		15965	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													82.0	67.0	72.0					X																	26212640		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.677G>A	X.37:g.26212640G>A	ENSP00000368320:p.Arg226His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R226H	ENST00000379034.1	37	c.677	CCDS14217.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	1.950	-0.441455	0.04604	.	.	ENSG00000176746	ENST00000379034	T	0.04706	3.57	3.1	-6.21	0.02065	.	2.675710	0.02585	N	0.099317	T	0.03095	0.0091	N	0.01352	-0.895	0.09310	N	1	P	0.52170	0.951	P	0.48677	0.586	T	0.37820	-0.9689	10	0.37606	T	0.19	.	12.1935	0.54284	0.1735:0.1255:0.7011:0.0	.	226	Q8N7X4	MAGB6_HUMAN	H	226	ENSP00000368320:R226H	ENSP00000368320:R226H	R	+	2	0	MAGEB6	26122561	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.316000	0.00254	-3.127000	0.00237	-0.351000	0.07748	CGC	MAGEB6	-	pfam_MAGE,pfscan_MAGE	ENSG00000176746		0.488	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	78	0.00	0	G	NM_173523		26212640	26212640	+1	no_errors	ENST00000379034	ensembl	human	known	69_37n	missense	56	18.57	13	SNP	0.000	A
MAGEB6	158809	genome.wustl.edu	37	X	26212723	26212723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:26212723G>T	ENST00000379034.1	+	2	909	c.760G>T	c.(760-762)Gaa>Taa	p.E254*		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	254	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGAATTGAAAGAAATGGATTC	0.527																																						dbGAP											0													70.0	59.0	63.0					X																	26212723		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.760G>T	X.37:g.26212723G>T	ENSP00000368320:p.Glu254*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GS19|Q9H219	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E254*	ENST00000379034.1	37	c.760	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303983	0.60305	.	.	ENSG00000176746	ENST00000379034	.	.	.	3.1	2.24	0.28232	.	0.129052	0.49916	U	0.000130	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.4584	0.16604	0.158:0.0:0.842:0.0	.	.	.	.	X	254	.	ENSP00000368320:E254X	E	+	1	0	MAGEB6	26122644	0.067000	0.21026	0.004000	0.12327	0.001000	0.01503	1.308000	0.33528	0.712000	0.32039	-0.198000	0.12761	GAA	MAGEB6	-	pfam_MAGE,pfscan_MAGE	ENSG00000176746		0.527	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	119	0.00	0	G	NM_173523		26212723	26212723	+1	no_errors	ENST00000379034	ensembl	human	known	69_37n	nonsense	66	13.16	10	SNP	0.004	T
MAGEB3	4114	genome.wustl.edu	37	X	30254733	30254733	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30254733G>T	ENST00000361644.2	+	5	1429	c.692G>T	c.(691-693)aGa>aTa	p.R231I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	231	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AATAAGATGAGAATATATGAT	0.468																																						dbGAP											0													46.0	42.0	43.0					X																	30254733		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.692G>T	X.37:g.30254733G>T	ENSP00000355198:p.Arg231Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R231I	ENST00000361644.2	37	c.692	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341689	0.24339	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04970	3.52;3.52	4.3	-1.72	0.08107	.	0.238820	0.34507	U	0.003904	T	0.18173	0.0436	M	0.77103	2.36	0.09310	N	1	D	0.54964	0.969	D	0.66497	0.944	T	0.01972	-1.1237	10	0.87932	D	0	.	8.8737	0.35332	0.7254:0.0:0.2746:0.0	.	231	O15480	MAGB3_HUMAN	I	231	ENSP00000368271:R231I;ENSP00000355198:R231I	ENSP00000355198:R231I	R	+	2	0	MAGEB3	30164654	0.000000	0.05858	0.003000	0.11579	0.079000	0.17450	-0.155000	0.10115	-0.531000	0.06340	0.600000	0.82982	AGA	MAGEB3	-	pfam_MAGE,pfscan_MAGE	ENSG00000198798		0.468	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	103	0.00	0	G	NM_002365		30254733	30254733	+1	no_errors	ENST00000361644	ensembl	human	known	69_37n	missense	83	24.55	27	SNP	0.003	T
MAGEB4	4115	genome.wustl.edu	37	X	30261063	30261063	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:30261063C>A	ENST00000378982.2	+	1	1007	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	271	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTATCAATTCCTGTGGGGTCC	0.498																																						dbGAP											0													69.0	68.0	68.0					X																	30261063		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.811C>A	X.37:g.30261063C>A	ENSP00000368266:p.Leu271Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L271M	ENST00000378982.2	37	c.811	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642989	0.47153	.	.	ENSG00000120289	ENST00000378982	T	0.05855	3.38	3.22	3.22	0.36961	.	0.292406	0.26991	U	0.021465	T	0.34716	0.0907	H	0.97340	3.985	0.24176	N	0.995606	D	0.89917	1.0	D	0.97110	1.0	T	0.34750	-0.9816	10	0.87932	D	0	.	9.0854	0.36579	0.0:1.0:0.0:0.0	.	271	O15481	MAGB4_HUMAN	M	271	ENSP00000368266:L271M	ENSP00000368266:L271M	L	+	1	2	MAGEB4	30170984	1.000000	0.71417	0.741000	0.31004	0.048000	0.14542	2.443000	0.44881	1.880000	0.54463	0.600000	0.82982	CTG	MAGEB4	-	pfam_MAGE,pfscan_MAGE	ENSG00000120289		0.498	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	157	0.00	0	C	NM_002367		30261063	30261063	+1	no_errors	ENST00000378982	ensembl	human	known	69_37n	missense	120	17.24	25	SNP	0.701	A
MAGEB16	139604	genome.wustl.edu	37	X	35821046	35821046	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:35821046G>A	ENST00000399989.1	+	2	1012	c.733G>A	c.(733-735)Gag>Aag	p.E245K	MAGEB16_ENST00000399988.1_Missense_Mutation_p.E245K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E245K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E277K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.E245K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	245	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CATCTTTGGAGAGCCCAGAAT	0.488																																						dbGAP											0													47.0	45.0	46.0					X																	35821046		2163	4283	6446	-	-	-	SO:0001583	missense	0				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.733G>A	X.37:g.35821046G>A	ENSP00000382871:p.Glu245Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU30	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E277K	ENST00000399989.1	37	c.829	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467395	0.43839	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	3.06	0.118	0.14667	.	0.346181	0.31648	N	0.007283	T	0.14442	0.0349	M	0.90425	3.115	0.09310	N	1	D	0.55800	0.973	P	0.50352	0.638	T	0.10567	-1.0624	10	0.66056	D	0.02	.	3.2379	0.06771	0.2816:0.2205:0.4979:0.0	.	245	A2A368	MAGBG_HUMAN	K	245;277;245;245;245	ENSP00000382870:E245K;ENSP00000382874:E277K;ENSP00000382869:E245K;ENSP00000382871:E245K;ENSP00000382867:E245K	ENSP00000382867:E245K	E	+	1	0	MAGEB16	35730967	0.005000	0.15991	0.000000	0.03702	0.016000	0.09150	0.490000	0.22403	-0.079000	0.12707	-0.530000	0.04314	GAG	MAGEB16	-	pfam_MAGE,pfscan_MAGE	ENSG00000189023		0.488	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	169	0.00	0	G			35821046	35821046	+1	no_errors	ENST00000399992	ensembl	human	known	69_37n	missense	104	30.67	46	SNP	0.000	A
MAGED1	9500	genome.wustl.edu	37	X	51640912	51640912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:51640912G>T	ENST00000375722.1	+	7	1840	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Nonsense_Mutation_p.E586*|MAGED1_ENST00000375772.3_Nonsense_Mutation_p.E530*|MAGED1_ENST00000326587.7_Nonsense_Mutation_p.E530*			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	530	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCAACTGAAAGAAATTGACAA	0.448										Multiple Myeloma(10;0.10)																												dbGAP											0													54.0	48.0	50.0					X																	51640912		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1588G>T	X.37:g.51640912G>T	ENSP00000364874:p.Glu530*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E586*	ENST00000375722.1	37	c.1756	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.274445	0.98179	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	.	.	.	3.63	3.63	0.41609	.	0.000000	0.36628	N	0.002491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.3495	0.55141	0.0:0.0:1.0:0.0	.	.	.	.	X	530;530;530;586	.	ENSP00000325333:E530X	E	+	1	0	MAGED1	51657652	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.640000	0.54350	2.063000	0.61619	0.506000	0.49869	GAA	MAGED1	-	pfam_MAGE,pfscan_MAGE	ENSG00000179222		0.448	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	169	0.00	0	G	NM_001005332		51640912	51640912	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	nonsense	110	12.70	16	SNP	1.000	T
MAGEC1	9947	genome.wustl.edu	37	X	140993954	140993954	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:140993954G>T	ENST00000285879.4	+	4	1050	c.764G>T	c.(763-765)aGa>aTa	p.R255I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	255								p.R255I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCTGAGAGAACTCAGAGT	0.498										HNSCC(15;0.026)																												dbGAP											1	Substitution - Missense(1)	large_intestine(1)											67.0	52.0	57.0					X																	140993954		2047	3634	5681	-	-	-	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.764G>T	X.37:g.140993954G>T	ENSP00000285879:p.Arg255Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R255I	ENST00000285879.4	37	c.764	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	N	1.272	-0.612820	0.03690	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.12984	4.34;2.63	.	.	.	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.35375	-0.9791	8	0.56958	D	0.05	.	2.8327	0.05505	3.0E-4:3.0E-4:0.5007:0.4987	.	255	O60732	MAGC1_HUMAN	I	255;57;56	ENSP00000285879:R255I;ENSP00000359542:R57I	ENSP00000285879:R255I	R	+	2	0	MAGEC1	140821620	0.002000	0.14202	0.050000	0.19076	0.050000	0.14768	0.922000	0.28734	0.054000	0.16065	0.054000	0.15206	AGA	MAGEC1	-	NULL	ENSG00000155495		0.498	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	132	0.00	0	G	NM_005462		140993954	140993954	+1	no_errors	ENST00000285879	ensembl	human	known	69_37n	missense	78	22.00	22	SNP	0.004	T
MAGI2	9863	genome.wustl.edu	37	7	77975278	77975278	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:77975278C>T	ENST00000354212.4	-	8	1439	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MAGI2_ENST00000535697.1_Missense_Mutation_p.E233K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E396K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E396K|RPL13AP17_ENST00000450028.1_RNA|MAGI2_ENST00000536571.1_Missense_Mutation_p.E228K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	396					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTCCAAGTTCTGTGTGGGGC	0.433																																						dbGAP											0													212.0	201.0	205.0					7																	77975278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1186G>A	7.37:g.77975278C>T	ENSP00000346151:p.Glu396Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.E396K	ENST00000354212.4	37	c.1186	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601063	0.66332	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.10668	2.94;2.94;2.85;3.8;3.81	5.63	5.63	0.86233	.	0.000000	0.37261	U	0.002164	T	0.15696	0.0378	L	0.42245	1.32	0.58432	D	0.999996	B;B;B;B;P;P	0.37985	0.43;0.356;0.255;0.255;0.613;0.495	B;B;B;B;B;B	0.41271	0.112;0.089;0.053;0.053;0.352;0.169	T	0.00792	-1.1564	10	0.54805	T	0.06	.	18.6591	0.91465	0.0:1.0:0.0:0.0	.	233;228;396;396;396;396	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	K	396;396;396;396;228;233	ENSP00000405766:E396K;ENSP00000346151:E396K;ENSP00000428389:E396K;ENSP00000441584:E228K;ENSP00000441603:E233K	ENSP00000346151:E396K	E	-	1	0	MAGI2	77813214	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.974000	0.63771	2.636000	0.89361	0.655000	0.94253	GAA	MAGI2	-	NULL	ENSG00000187391		0.433	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	986	0.00	0	C	NM_012301		77975278	77975278	-1	no_errors	ENST00000354212	ensembl	human	known	69_37n	missense	695	12.14	96	SNP	1.000	T
MAGI3	260425	genome.wustl.edu	37	1	114185087	114185087	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:114185087C>T	ENST00000307546.9	+	10	1990	c.1915C>T	c.(1915-1917)Cta>Tta	p.L639L	MAGI3_ENST00000369611.4_Silent_p.L639L|MAGI3_ENST00000369617.4_Silent_p.L664L|MAGI3_ENST00000369615.1_Silent_p.L639L	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	664	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTAGAGGTGCTAAAGCAGTT	0.378																																						dbGAP											0													96.0	98.0	97.0					1																	114185087		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1915C>T	1.37:g.114185087C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.L639	ENST00000307546.9	37	c.1915	CCDS44196.1	1																																																																																			MAGI3	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000081026		0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	259	0.00	0	C	NM_152900		114185087	114185087	+1	no_errors	ENST00000369611	ensembl	human	known	69_37n	silent	175	12.87	26	SNP	1.000	T
MAGOHB	55110	genome.wustl.edu	37	12	10760477	10760477	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:10760477G>T	ENST00000320756.2	-	4	413	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	MAGOHB_ENST00000539554.1_Missense_Mutation_p.S62Y|MAGOHB_ENST00000381881.2_Missense_Mutation_p.S71Y	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	108					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						ATCAATAAGAGAACCTATTTT	0.289																																						dbGAP											0													74.0	77.0	76.0					12																	10760477		2200	4296	6496	-	-	-	SO:0001583	missense	0				CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.323C>A	12.37:g.10760477G>T	ENSP00000319240:p.Ser108Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.S108Y	ENST00000320756.2	37	c.323	CCDS8628.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003626	0.74932	.	.	ENSG00000111196	ENST00000539554;ENST00000320756;ENST00000381881	.	.	.	4.07	4.07	0.47477	.	0.000000	0.85682	U	0.000000	D	0.86732	0.6003	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90601	0.4544	9	0.87932	D	0	.	14.5487	0.68050	0.0:0.0:1.0:0.0	.	108	Q96A72	MGN2_HUMAN	Y	62;108;71	.	ENSP00000319240:S108Y	S	-	2	0	MAGOHB	10651744	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.486000	0.90451	2.547000	0.85894	0.563000	0.77884	TCT	MAGOHB	-	pfam_Mago_nashi,superfamily_Mago_nashi	ENSG00000111196		0.289	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOHB	HGNC	protein_coding	OTTHUMT00000399616.1	351	0.28	1	G	NM_018048		10760477	10760477	-1	no_errors	ENST00000320756	ensembl	human	known	69_37n	missense	217	16.22	42	SNP	1.000	T
MAK	4117	genome.wustl.edu	37	6	10819153	10819153	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:10819153G>T	ENST00000313243.2	-	3	504	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.S41Y|MAK_ENST00000354489.2_Missense_Mutation_p.S41Y|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000536370.1_Missense_Mutation_p.S41Y|MAK_ENST00000538030.1_Missense_Mutation_p.S41Y			P20794	MAK_HUMAN	male germ cell-associated kinase	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTCATCCCAAGAATAGAACTT	0.373																																						dbGAP											0													129.0	117.0	121.0					6																	10819153		2200	4299	6499	-	-	-	SO:0001583	missense	0				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.122C>A	6.37:g.10819153G>T	ENSP00000313021:p.Ser41Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S41Y	ENST00000313243.2	37	c.122	CCDS4516.1	6	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516776	0.85495	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059549	0.64402	D	0.000001	T	0.68888	0.3050	L	0.45285	1.41	0.80722	D	1	P	0.52170	0.951	P	0.58620	0.842	T	0.72394	-0.4307	10	0.66056	D	0.02	.	18.6683	0.91501	0.0:0.0:1.0:0.0	.	41	P20794	MAK_HUMAN	Y	41	ENSP00000313021:S41Y;ENSP00000346484:S41Y;ENSP00000442250:S41Y;ENSP00000442221:S41Y	ENSP00000313021:S41Y	S	-	2	0	MAK	10927139	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.130000	0.94437	2.413000	0.81919	0.655000	0.94253	TCT	MAK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000111837		0.373	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	HGNC	protein_coding	OTTHUMT00000039841.1	520	0.00	0	G	NM_005906		10819153	10819153	-1	no_errors	ENST00000313243	ensembl	human	known	69_37n	missense	363	11.89	49	SNP	1.000	T
MAK16	84549	genome.wustl.edu	37	8	33346629	33346629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:33346629C>T	ENST00000360128.6	+	5	821	c.364C>T	c.(364-366)Cga>Tga	p.R122*	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	122						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R122*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATACCTAATTCGAATTAGAAA	0.343																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											103.0	100.0	101.0					8																	33346629		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.364C>T	8.37:g.33346629C>T	ENSP00000353246:p.Arg122*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Nonsense_Mutation	SNP	pfam_Mak16,pirsf_Mak16	p.R122*	ENST00000360128.6	37	c.364	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	C	41	8.770487	0.98948	.	.	ENSG00000198042	ENST00000360128	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8121	20.1743	0.98175	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000353246:R122X	R	+	1	2	MAK16	33466171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.651000	0.54431	2.873000	0.98535	0.561000	0.74099	CGA	MAK16	-	pirsf_Mak16	ENSG00000198042		0.343	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	HGNC	protein_coding	OTTHUMT00000376559.3	295	0.00	0	C	NM_032509		33346629	33346629	+1	no_errors	ENST00000360128	ensembl	human	known	69_37n	nonsense	181	26.61	66	SNP	1.000	T
MAML1	9794	genome.wustl.edu	37	5	179193520	179193520	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:179193520G>A	ENST00000292599.3	+	2	1772	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAACTCCGCGAATAACCAGG	0.577																																						dbGAP											0													71.0	61.0	65.0					5																	179193520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1509G>A	5.37:g.179193520G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.A503	ENST00000292599.3	37	c.1509	CCDS34315.1	5																																																																																			MAML1	-	NULL	ENSG00000161021		0.577	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	214	0.00	0	G	NM_014757		179193520	179193520	+1	no_errors	ENST00000292599	ensembl	human	known	69_37n	silent	105	21.48	29	SNP	0.546	A
MAML2	84441	genome.wustl.edu	37	11	95825557	95825557	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:95825557G>A	ENST00000524717.1	-	2	2922	c.1638C>T	c.(1636-1638)caC>caT	p.H546H		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	546					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCATGGCTGGGTGCGGGTTGT	0.527			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													44.0	46.0	46.0					11																	95825557		2021	4183	6204	-	-	-	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1638C>T	11.37:g.95825557G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.H546	ENST00000524717.1	37	c.1638	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.527	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	207	0.00	0	G			95825557	95825557	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	silent	115	23.84	36	SNP	0.712	A
MAN1A1	4121	genome.wustl.edu	37	6	119510834	119510834	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:119510834C>T	ENST00000368468.3	-	10	1982	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	514					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CTCACATGTTCGATTATATGA	0.453																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													137.0	135.0	135.0					6																	119510834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1541G>A	6.37:g.119510834C>T	ENSP00000357453:p.Arg514Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R514Q	ENST00000368468.3	37	c.1541	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166706	0.78339	.	.	ENSG00000111885	ENST00000368468	T	0.71341	-0.56	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.76485	0.3994	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.73613	-0.3927	10	0.32370	T	0.25	-16.2159	18.5331	0.91000	0.0:1.0:0.0:0.0	.	514	P33908	MA1A1_HUMAN	Q	514	ENSP00000357453:R514Q	ENSP00000357453:R514Q	R	-	2	0	MAN1A1	119552533	1.000000	0.71417	0.978000	0.43139	0.154000	0.21943	7.786000	0.85741	2.358000	0.79984	0.655000	0.94253	CGA	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.453	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	159	0.00	0	C	NM_005907		119510834	119510834	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	missense	106	16.41	21	SNP	1.000	T
MAN1A1	4121	genome.wustl.edu	37	6	119628106	119628106	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:119628106C>T	ENST00000368468.3	-	3	1096	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E242K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	219					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GGTTTGAGTTCATTTAATCCC	0.333																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													222.0	221.0	222.0					6																	119628106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.655G>A	6.37:g.119628106C>T	ENSP00000357453:p.Glu219Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E219K	ENST00000368468.3	37	c.655	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.233643	0.95207	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.76578	-1.03;-1.03	5.5	5.5	0.81552	.	0.046084	0.85682	D	0.000000	D	0.93890	0.8045	H	0.99682	4.7	0.58432	D	0.999999	D;D	0.65815	0.98;0.995	D;D	0.79108	0.992;0.972	D	0.96510	0.9378	9	.	.	.	-35.2922	19.4334	0.94781	0.0:1.0:0.0:0.0	.	242;219	Q6P052;P33908	.;MA1A1_HUMAN	K	219;242	ENSP00000357453:E219K;ENSP00000357451:E242K	.	E	-	1	0	MAN1A1	119669805	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.848000	0.75409	2.596000	0.87737	0.585000	0.79938	GAA	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000111885		0.333	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	444	0.00	0	C	NM_005907		119628106	119628106	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	missense	254	12.71	37	SNP	1.000	T
MAN2A1	4124	genome.wustl.edu	37	5	109155379	109155379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:109155379C>T	ENST00000261483.4	+	14	3171	c.2119C>T	c.(2119-2121)Cga>Tga	p.R707*		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	707					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATCTCTTTTCGAGCACATAT	0.308																																						dbGAP											0													46.0	52.0	50.0					5																	109155379		2202	4293	6495	-	-	-	SO:0001587	stop_gained	0				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2119C>T	5.37:g.109155379C>T	ENSP00000261483:p.Arg707*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16767	Nonsense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R707*	ENST00000261483.4	37	c.2119	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	47	13.250125	0.99730	.	.	ENSG00000112893	ENST00000261483	.	.	.	5.84	-0.761	0.11038	.	0.504726	0.20296	N	0.095121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-0.0294	2.5228	0.04684	0.2674:0.1626:0.4458:0.1242	.	.	.	.	X	707	.	ENSP00000261483:R707X	R	+	1	2	MAN2A1	109183278	0.704000	0.27836	0.994000	0.49952	0.784000	0.44337	-0.048000	0.11944	0.079000	0.16929	0.655000	0.94253	CGA	MAN2A1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	ENSG00000112893		0.308	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	79	0.00	0	C			109155379	109155379	+1	no_errors	ENST00000261483	ensembl	human	known	69_37n	nonsense	40	27.27	15	SNP	0.986	T
MAN2B1	4125	genome.wustl.edu	37	19	12763060	12763060	+	Silent	SNP	G	G	A	rs547133035	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12763060G>A	ENST00000456935.2	-	16	1993	c.1953C>T	c.(1951-1953)aaC>aaT	p.N651N	MAN2B1_ENST00000221363.4_Silent_p.N650N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	651					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCACTTTCGTTGTCACCTA	0.602													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16385	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													143.0	111.0	122.0					19																	12763060		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1953C>T	19.37:g.12763060G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	p.R187	ENST00000456935.2	37	c.559	CCDS32919.1	19																																																																																			MAN2B1	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000104774		0.602	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	122	0.00	0	G			12763060	12763060	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433513	ensembl	human	known	69_37n	missense	94	21.01	25	SNP	0.000	A
MAOB	4129	genome.wustl.edu	37	X	43640731	43640731	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:43640731T>C	ENST00000378069.4	-	9	1136	c.989A>G	c.(988-990)gAt>gGt	p.D330G	MAOB_ENST00000536181.1_Missense_Mutation_p.D314G|MAOB_ENST00000538942.1_Missense_Mutation_p.D314G	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	330					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	AGGTTTGGTATCATCCAACGT	0.403																																						dbGAP											0													120.0	80.0	93.0					X																	43640731		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.989A>G	X.37:g.43640731T>C	ENSP00000367309:p.Asp330Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.D330G	ENST00000378069.4	37	c.989	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359292	0.82353	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.92249	-3.0;-3.0;-3.0	5.47	5.47	0.80525	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.95598	0.8660	10	0.41790	T	0.15	-20.9378	14.3182	0.66465	0.0:0.0:0.0:1.0	.	314;330	B7Z5H3;P27338	.;AOFB_HUMAN	G	330;314;314	ENSP00000367309:D330G;ENSP00000441613:D314G;ENSP00000442240:D314G	ENSP00000367309:D330G	D	-	2	0	MAOB	43525675	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.987000	0.76206	1.840000	0.53500	0.481000	0.45027	GAT	MAOB	-	pfam_Amino_oxidase	ENSG00000069535		0.403	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	230	0.00	0	T	NM_000898		43640731	43640731	-1	no_errors	ENST00000378069	ensembl	human	known	69_37n	missense	202	13.62	32	SNP	1.000	C
MAOB	4129	genome.wustl.edu	37	X	43702919	43702919	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:43702919A>G	ENST00000378069.4	-	2	285	c.138T>C	c.(136-138)ctT>ctC	p.L46L	MAOB_ENST00000536181.1_Silent_p.L30L|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000538942.1_Silent_p.L30L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	46	Arg/Lys-rich (basic).				negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GCCTTACCCTAAGAGTGTAAG	0.473																																						dbGAP											0													83.0	68.0	73.0					X																	43702919		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.138T>C	X.37:g.43702919A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.L46	ENST00000378069.4	37	c.138	CCDS14261.1	X																																																																																			MAOB	-	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase	ENSG00000069535		0.473	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	283	0.00	0	A	NM_000898		43702919	43702919	-1	no_errors	ENST00000378069	ensembl	human	known	69_37n	silent	172	31.08	78	SNP	0.107	G
MAP1A	4130	genome.wustl.edu	37	15	43816968	43816968	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43816968C>A	ENST00000300231.5	+	4	3747	c.3297C>A	c.(3295-3297)gtC>gtA	p.V1099V	MAP1A_ENST00000399453.1_Silent_p.V1099V|MAP1A_ENST00000382031.1_Silent_p.V1337V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1099					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGCAATAGTCTTTGAGATTA	0.547																																						dbGAP											0													84.0	86.0	86.0					15																	43816968		1936	4122	6058	-	-	-	SO:0001819	synonymous_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3297C>A	15.37:g.43816968C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	NULL	p.V1099	ENST00000300231.5	37	c.3297	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.547	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	77	0.00	0	C	NM_002373		43816968	43816968	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	silent	42	32.26	20	SNP	0.991	A
MAP1A	4130	genome.wustl.edu	37	15	43818282	43818282	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43818282G>T	ENST00000300231.5	+	4	5061	c.4611G>T	c.(4609-4611)caG>caT	p.Q1537H	MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1537H|MAP1A_ENST00000382031.1_Missense_Mutation_p.Q1775H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1537					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCAGGCCCAGGAACAAAAGG	0.473																																						dbGAP											0													59.0	66.0	64.0					15																	43818282		1862	4095	5957	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4611G>T	15.37:g.43818282G>T	ENSP00000300231:p.Gln1537His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.Q1537H	ENST00000300231.5	37	c.4611	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641022	0.29157	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02446	4.29;4.29;4.29	3.75	-3.43	0.04810	.	.	.	.	.	T	0.03651	0.0104	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39502	-0.9611	9	0.23891	T	0.37	-2.9386	11.7125	0.51633	0.8185:0.0:0.1815:0.0	.	1537	P78559	MAP1A_HUMAN	H	1775;1537;1537	ENSP00000371462:Q1775H;ENSP00000382380:Q1537H;ENSP00000300231:Q1537H	ENSP00000300231:Q1537H	Q	+	3	2	MAP1A	41605574	0.000000	0.05858	0.001000	0.08648	0.850000	0.48378	-0.490000	0.06482	-0.623000	0.05618	0.563000	0.77884	CAG	MAP1A	-	NULL	ENSG00000166963		0.473	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	250	0.00	0	G	NM_002373		43818282	43818282	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	180	16.28	35	SNP	0.015	T
MAP1A	4130	genome.wustl.edu	37	15	43818325	43818325	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43818325G>T	ENST00000300231.5	+	4	5104	c.4654G>T	c.(4654-4656)Gaa>Taa	p.E1552*	MAP1A_ENST00000399453.1_Nonsense_Mutation_p.E1552*|MAP1A_ENST00000382031.1_Nonsense_Mutation_p.E1790*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1552					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCAGGCCTTAGAACAAAAATA	0.478																																						dbGAP											0													52.0	58.0	56.0					15																	43818325		1866	4088	5954	-	-	-	SO:0001587	stop_gained	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4654G>T	15.37:g.43818325G>T	ENSP00000300231:p.Glu1552*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Nonsense_Mutation	SNP	NULL	p.E1552*	ENST00000300231.5	37	c.4654	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	46	12.380977	0.99662	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	.	.	.	4.94	3.05	0.35203	.	0.256266	0.20484	N	0.091428	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-4.2998	6.4969	0.22148	0.0974:0.1837:0.7189:0.0	.	.	.	.	X	1790;1552;1552	.	ENSP00000300231:E1552X	E	+	1	0	MAP1A	41605617	0.864000	0.29904	0.053000	0.19242	0.944000	0.59088	2.588000	0.46137	0.674000	0.31244	-0.300000	0.09419	GAA	MAP1A	-	NULL	ENSG00000166963		0.478	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	199	0.50	1	G	NM_002373		43818325	43818325	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	nonsense	122	22.78	36	SNP	0.001	T
MAP1A	4130	genome.wustl.edu	37	15	43818444	43818444	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43818444G>T	ENST00000300231.5	+	4	5223	c.4773G>T	c.(4771-4773)agG>agT	p.R1591S	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1591S|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1829S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1591					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ATAAAACCAGGAAACCAAAGA	0.493																																						dbGAP											0													55.0	57.0	57.0					15																	43818444		1881	4104	5985	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4773G>T	15.37:g.43818444G>T	ENSP00000300231:p.Arg1591Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.R1591S	ENST00000300231.5	37	c.4773	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	3.938	-0.014740	0.07681	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.64085	-0.08;-0.08;-0.08	3.59	-2.3	0.06785	.	.	.	.	.	T	0.30293	0.0760	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.21793	-1.0235	9	0.08179	T	0.78	4.2219	3.3171	0.07036	0.1011:0.1313:0.1971:0.5705	.	1591	P78559	MAP1A_HUMAN	S	1829;1591;1591	ENSP00000371462:R1829S;ENSP00000382380:R1591S;ENSP00000300231:R1591S	ENSP00000300231:R1591S	R	+	3	2	MAP1A	41605736	0.000000	0.05858	0.000000	0.03702	0.686000	0.39977	0.214000	0.17541	-0.457000	0.07033	-0.309000	0.09137	AGG	MAP1A	-	NULL	ENSG00000166963		0.493	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	100	0.00	0	G	NM_002373		43818444	43818444	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	93	17.70	20	SNP	0.000	T
MAP1A	4130	genome.wustl.edu	37	15	43820491	43820491	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43820491C>T	ENST00000300231.5	+	4	7270	c.6820C>T	c.(6820-6822)Cgc>Tgc	p.R2274C	MAP1A_ENST00000399453.1_Missense_Mutation_p.R2274C|MAP1A_ENST00000382031.1_Missense_Mutation_p.R2512C			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2274					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTGGCGGAGCGCTTCTCTCC	0.617																																						dbGAP											0													51.0	55.0	54.0					15																	43820491		1983	4171	6154	-	-	-	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6820C>T	15.37:g.43820491C>T	ENSP00000300231:p.Arg2274Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.R2274C	ENST00000300231.5	37	c.6820	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	5.964	0.361847	0.11296	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01422	4.91;4.91;4.91	4.23	2.23	0.28157	.	0.000000	0.32640	N	0.005823	T	0.01222	0.0040	L	0.34521	1.04	0.37214	D	0.904928	D	0.54772	0.968	B	0.39840	0.311	T	0.65364	-0.6186	10	0.51188	T	0.08	-6.6454	6.3646	0.21447	0.3144:0.4215:0.2641:0.0	.	2274	P78559	MAP1A_HUMAN	C	2512;2274;2274	ENSP00000371462:R2512C;ENSP00000382380:R2274C;ENSP00000300231:R2274C	ENSP00000300231:R2274C	R	+	1	0	MAP1A	41607783	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	1.015000	0.29963	2.184000	0.69523	0.561000	0.74099	CGC	MAP1A	-	NULL	ENSG00000166963		0.617	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	54	0.00	0	C	NM_002373		43820491	43820491	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.927	T
MAP1B	4131	genome.wustl.edu	37	5	71411594	71411594	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71411594G>A	ENST00000296755.7	+	2	552	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	85					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TTTGTATCTCGACACTCTGCA	0.468																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													141.0	128.0	132.0					5																	71411594		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.254G>A	5.37:g.71411594G>A	ENSP00000296755:p.Arg85Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R85Q	ENST00000296755.7	37	c.254	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.418569	0.96092	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T	0.20200	2.09;2.09	5.75	5.75	0.90469	.	0.000000	0.43110	D	0.000606	T	0.45418	0.1341	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.27773	-1.0064	10	0.87932	D	0	-9.0842	19.9525	0.97208	0.0:0.0:1.0:0.0	.	85	P46821	MAP1B_HUMAN	Q	85	ENSP00000296755:R85Q;ENSP00000423444:R85Q	ENSP00000296755:R85Q	R	+	2	0	MAP1B	71447350	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.171000	0.94802	2.719000	0.93026	0.655000	0.94253	CGA	MAP1B	-	NULL	ENSG00000131711		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	159	0.00	0	G	NM_005909		71411594	71411594	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	missense	99	11.61	13	SNP	1.000	A
MAP1B	4131	genome.wustl.edu	37	5	71490034	71490034	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71490034C>A	ENST00000296755.7	+	5	1150	c.852C>A	c.(850-852)atC>atA	p.I284I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	284					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATATGCTCATCAATGGCGGAT	0.498																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													83.0	87.0	86.0					5																	71490034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.852C>A	5.37:g.71490034C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.I284	ENST00000296755.7	37	c.852	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	164	0.00	0	C	NM_005909		71490034	71490034	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	silent	102	15.70	19	SNP	1.000	A
MAP1B	4131	genome.wustl.edu	37	5	71491402	71491402	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71491402G>T	ENST00000296755.7	+	5	2518	c.2220G>T	c.(2218-2220)aaG>aaT	p.K740N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	740	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K740N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACGCAAAGAAATCATCTA	0.393																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											61.0	65.0	64.0					5																	71491402		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2220G>T	5.37:g.71491402G>T	ENSP00000296755:p.Lys740Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.K740N	ENST00000296755.7	37	c.2220	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309582	0.10733	.	.	ENSG00000131711	ENST00000296755	T	0.23348	1.91	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000002	T	0.40171	0.1106	L	0.40543	1.245	0.48762	D	0.999704	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.02173	-1.1201	10	0.27785	T	0.31	-20.9645	19.2913	0.94100	0.0:0.0:1.0:0.0	.	614;740	A2BDK6;P46821	.;MAP1B_HUMAN	N	740	ENSP00000296755:K740N	ENSP00000296755:K740N	K	+	3	2	MAP1B	71527158	1.000000	0.71417	0.989000	0.46669	0.046000	0.14306	6.489000	0.73641	2.644000	0.89710	0.655000	0.94253	AAG	MAP1B	-	NULL	ENSG00000131711		0.393	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	143	0.00	0	G	NM_005909		71491402	71491402	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	missense	114	28.30	45	SNP	1.000	T
MAP1B	4131	genome.wustl.edu	37	5	71491766	71491766	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71491766G>A	ENST00000296755.7	+	5	2882	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	862					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCTAATCGAAGACGAAGA	0.493																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													125.0	122.0	123.0					5																	71491766		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2584G>A	5.37:g.71491766G>A	ENSP00000296755:p.Glu862Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E862K	ENST00000296755.7	37	c.2584	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768876	0.49680	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	5.34	5.34	0.76211	.	0.093811	0.45867	D	0.000337	T	0.03827	0.0108	L	0.36672	1.1	0.43559	D	0.995879	B;B	0.16802	0.019;0.004	B;B	0.09377	0.004;0.003	T	0.48258	-0.9051	10	0.28530	T	0.3	-13.4911	10.6014	0.45369	0.149:0.0:0.851:0.0	.	736;862	A2BDK6;P46821	.;MAP1B_HUMAN	K	862	ENSP00000296755:E862K	ENSP00000296755:E862K	E	+	1	0	MAP1B	71527522	1.000000	0.71417	0.724000	0.30704	0.112000	0.19704	5.618000	0.67722	2.490000	0.84030	0.591000	0.81541	GAA	MAP1B	-	NULL	ENSG00000131711		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	130	0.00	0	G	NM_005909		71491766	71491766	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	missense	117	13.33	18	SNP	0.996	A
MAP1B	4131	genome.wustl.edu	37	5	71491777	71491777	+	Missense_Mutation	SNP	G	G	T	rs559186362	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71491777G>T	ENST00000296755.7	+	5	2893	c.2595G>T	c.(2593-2595)gaG>gaT	p.E865D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	865					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACGAAGAGAAACTGAAGG	0.493																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0													126.0	124.0	125.0					5																	71491777		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2595G>T	5.37:g.71491777G>T	ENSP00000296755:p.Glu865Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E865D	ENST00000296755.7	37	c.2595	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	4.016	0.000392	0.07819	.	.	ENSG00000131711	ENST00000296755	T	0.03441	3.93	5.34	1.14	0.20703	.	0.610562	0.15493	N	0.259476	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.48768	-0.9006	10	0.13108	T	0.6	-8.5837	3.8127	0.08804	0.1423:0.3314:0.4098:0.1165	.	739;865	A2BDK6;P46821	.;MAP1B_HUMAN	D	865	ENSP00000296755:E865D	ENSP00000296755:E865D	E	+	3	2	MAP1B	71527533	0.998000	0.40836	0.524000	0.27887	0.008000	0.06430	0.579000	0.23788	0.602000	0.29896	0.591000	0.81541	GAG	MAP1B	-	NULL	ENSG00000131711		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	129	0.00	0	G	NM_005909		71491777	71491777	+1	no_errors	ENST00000296755	ensembl	human	known	69_37n	missense	114	25.97	40	SNP	0.103	T
MAP2	4133	genome.wustl.edu	37	2	210559607	210559607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:210559607C>T	ENST00000360351.4	+	7	3219	c.2713C>T	c.(2713-2715)Cga>Tga	p.R905*	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.R901*|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	905					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGATAAAGTTCGAAGAGATTT	0.453																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													70.0	70.0	70.0					2																	210559607		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2713C>T	2.37:g.210559607C>T	ENSP00000353508:p.Arg905*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.R905*	ENST00000360351.4	37	c.2713	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.220617	0.97390	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	.	.	.	5.9	4.99	0.66335	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5774	13.2645	0.60125	0.2813:0.7187:0.0:0.0	.	.	.	.	X	905;901	.	ENSP00000353508:R905X	R	+	1	2	MAP2	210267852	0.973000	0.33851	0.908000	0.35775	0.979000	0.70002	1.351000	0.34022	2.808000	0.96608	0.650000	0.86243	CGA	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	151	0.00	0	C	NM_001039538		210559607	210559607	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	nonsense	82	24.32	27	SNP	0.920	T
MAP2K1	5604	genome.wustl.edu	37	15	66679697	66679697	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:66679697G>T	ENST00000307102.5	+	1	543	c.12G>T	c.(10-12)aaG>aaT	p.K4N	TIPIN_ENST00000561773.1_5'Flank	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	4					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TGCCCAAGAAGAAGCCGACGC	0.692																																						dbGAP											0													30.0	28.0	29.0					15																	66679697		2146	4227	6373	-	-	-	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.12G>T	15.37:g.66679697G>T	ENSP00000302486:p.Lys4Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K4N	ENST00000307102.5	37	c.12	CCDS10216.1	15	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563585	0.65651	.	.	ENSG00000169032	ENST00000307102	D	0.93366	-3.21	4.04	4.04	0.47022	.	0.051043	0.85682	D	0.000000	D	0.85647	0.5745	N	0.11427	0.14	0.80722	D	1	B	0.32573	0.376	B	0.31751	0.135	D	0.86588	0.1858	10	0.66056	D	0.02	-15.5124	13.2757	0.60186	0.0:0.0:1.0:0.0	.	4	Q02750	MP2K1_HUMAN	N	4	ENSP00000302486:K4N	ENSP00000302486:K4N	K	+	3	2	MAP2K1	64466751	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.402000	0.52608	1.942000	0.56320	0.305000	0.20034	AAG	MAP2K1	-	NULL	ENSG00000169032		0.692	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	91	0.00	0	G			66679697	66679697	+1	no_errors	ENST00000307102	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	T
MAP2K1	5604	genome.wustl.edu	37	15	66729197	66729197	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:66729197C>T	ENST00000307102.5	+	3	936	c.405C>T	c.(403-405)agC>agT	p.S135S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CGTTCTACAGCGATGGCGAGA	0.522																																						dbGAP											0													187.0	141.0	157.0					15																	66729197		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.405C>T	15.37:g.66729197C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S135	ENST00000307102.5	37	c.405	CCDS10216.1	15	.	.	.	.	.	.	.	.	.	.	C	8.812	0.935547	0.18206	.	.	ENSG00000169032	ENST00000425818	.	.	.	5.15	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2175	20.246	0.98398	0.0:0.3233:0.0:0.6767	.	.	.	.	X	75	.	.	R	+	1	2	MAP2K1	64516251	0.000000	0.05858	0.235000	0.24058	0.921000	0.55340	-2.717000	0.00813	-2.629000	0.00435	-1.814000	0.00607	CGA	MAP2K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000169032		0.522	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	258	0.00	0	C			66729197	66729197	+1	no_errors	ENST00000307102	ensembl	human	known	69_37n	silent	293	13.02	44	SNP	0.170	T
MAP3K13	9175	genome.wustl.edu	37	3	185169088	185169088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:185169088C>T	ENST00000265026.3	+	7	1517	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	MAP3K13_ENST00000443863.1_Nonsense_Mutation_p.R251*|MAP3K13_ENST00000424227.1_Nonsense_Mutation_p.R395*|MAP3K13_ENST00000535426.1_Nonsense_Mutation_p.R251*|MAP3K13_ENST00000446828.1_Nonsense_Mutation_p.R188*	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGTAAACCTCGAAACCGACC	0.388																																						dbGAP											0													123.0	109.0	114.0					3																	185169088		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1183C>T	3.37:g.185169088C>T	ENSP00000265026:p.Arg395*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R395*	ENST00000265026.3	37	c.1183	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.663835	0.98419	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8811	0.79205	0.136:0.864:0.0:0.0	.	.	.	.	X	188;395;251;251;395;140	.	ENSP00000265026:R395X	R	+	1	2	MAP3K13	186651782	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.009000	0.57110	2.882000	0.98803	0.655000	0.94253	CGA	MAP3K13	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000073803		0.388	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	111	0.00	0	C	NM_004721		185169088	185169088	+1	no_errors	ENST00000265026	ensembl	human	known	69_37n	nonsense	83	25.89	29	SNP	1.000	T
MAP3K15	389840	genome.wustl.edu	37	X	19478236	19478236	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:19478236C>T	ENST00000338883.4	-	5	754	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R84Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	252							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTGGCTTTCCGGATGTCATT	0.463																																						dbGAP											0													87.0	72.0	77.0					X																	19478236		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.755G>A	X.37:g.19478236C>T	ENSP00000345629:p.Arg252Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R252Q	ENST00000338883.4	37	c.755		X	.	.	.	.	.	.	.	.	.	.	c	26.1	4.706708	0.89018	.	.	ENSG00000180815	ENST00000338883;ENST00000469203	T;T	0.12361	2.69;2.69	4.85	3.08	0.35506	.	0.053822	0.64402	N	0.000001	T	0.33498	0.0865	M	0.85197	2.74	0.51233	D	0.999916	.	.	.	.	.	.	T	0.08330	-1.0727	8	0.87932	D	0	.	10.5078	0.44845	0.0:0.8373:0.0:0.1627	.	.	.	.	Q	252;84	ENSP00000345629:R252Q;ENSP00000428356:R84Q	ENSP00000345629:R252Q	R	-	2	0	MAP3K15	19388157	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.006000	0.49529	0.426000	0.26116	0.519000	0.50382	CGG	MAP3K15	-	NULL	ENSG00000180815		0.463	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		238	0.00	0	C	NM_001001671		19478236	19478236	-1	no_errors	ENST00000338883	ensembl	human	known	69_37n	missense	205	10.48	24	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	136882754	136882754	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:136882754T>G	ENST00000359015.4	-	28	4264	c.3904A>C	c.(3904-3906)Aat>Cat	p.N1302H	MAP3K5_ENST00000355845.4_Missense_Mutation_p.N549H	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1302					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCAGAAGAATTTAGATGAAAT	0.393																																						dbGAP											0													85.0	86.0	86.0					6																	136882754		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3904A>C	6.37:g.136882754T>G	ENSP00000351908:p.Asn1302His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N1302H	ENST00000359015.4	37	c.3904	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372903	0.24857	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.71222	-0.4;-0.55	5.74	4.57	0.56435	.	0.421997	0.29028	N	0.013364	T	0.39253	0.1071	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.37606	T	0.19	.	7.9129	0.29802	0.0:0.0771:0.1458:0.7771	.	1302	Q99683	M3K5_HUMAN	H	1302;549	ENSP00000351908:N1302H;ENSP00000348104:N549H	ENSP00000348104:N549H	N	-	1	0	MAP3K5	136924447	0.088000	0.21588	0.021000	0.16686	0.844000	0.47949	1.907000	0.39897	0.999000	0.39023	0.482000	0.46254	AAT	MAP3K5	-	NULL	ENSG00000197442		0.393	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	138	0.00	0	T			136882754	136882754	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	126	30.77	56	SNP	0.006	G
MAP3K5	4217	genome.wustl.edu	37	6	136913591	136913591	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:136913591G>A	ENST00000359015.4	-	22	3400	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R261W	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1014					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGAGTGTCCGAATTCCCTTG	0.448																																						dbGAP											0													156.0	157.0	157.0					6																	136913591		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3040C>T	6.37:g.136913591G>A	ENSP00000351908:p.Arg1014Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1014W	ENST00000359015.4	37	c.3040	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846844	0.51164	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.72505	-0.51;-0.66	5.78	4.91	0.64330	.	0.058093	0.64402	D	0.000002	T	0.73984	0.3657	L	0.51422	1.61	0.53688	D	0.999976	D;D	0.89917	0.984;1.0	P;D	0.79784	0.586;0.993	T	0.78125	-0.2326	10	0.66056	D	0.02	.	13.5545	0.61751	0.0:0.0:0.5986:0.4014	.	1095;1014	Q59GL6;Q99683	.;M3K5_HUMAN	W	1014;261;1094	ENSP00000351908:R1014W;ENSP00000348104:R261W	ENSP00000348104:R261W	R	-	1	2	MAP3K5	136955284	0.958000	0.32768	0.986000	0.45419	0.977000	0.68977	1.530000	0.36007	1.431000	0.47355	0.655000	0.94253	CGG	MAP3K5	-	NULL	ENSG00000197442		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	113	0.00	0	G			136913591	136913591	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	92	18.58	21	SNP	0.960	A
MAP3K4	4216	genome.wustl.edu	37	6	161508888	161508888	+	Nonsense_Mutation	SNP	C	C	T	rs140291284		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:161508888C>T	ENST00000392142.4	+	10	2873	c.2725C>T	c.(2725-2727)Cga>Tga	p.R909*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.R909*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.R909*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.R909*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	909					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCACGGTGATCGAGCCCGTGA	0.522																																						dbGAP											0													134.0	106.0	116.0					6																	161508888		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2725C>T	6.37:g.161508888C>T	ENSP00000375986:p.Arg909*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R909*	ENST00000392142.4	37	c.2725	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.807687	0.96967	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.63	3.73	0.42828	.	0.347489	0.26851	N	0.022167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.337	8.9764	0.35939	0.3206:0.5678:0.1116:0.0	.	.	.	.	X	909	.	ENSP00000297332:R909X	R	+	1	2	MAP3K4	161428878	0.997000	0.39634	0.000000	0.03702	0.009000	0.06853	3.864000	0.56024	1.515000	0.48885	-0.150000	0.13652	CGA	MAP3K4	-	NULL	ENSG00000085511		0.522	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	246	0.40	1	C			161508888	161508888	+1	no_errors	ENST00000392142	ensembl	human	known	69_37n	nonsense	123	38.19	76	SNP	0.004	T
MAP3K6	9064	genome.wustl.edu	37	1	27682984	27682984	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:27682984C>T	ENST00000493901.1	-	27	3771	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	MAP3K6_ENST00000374040.3_Missense_Mutation_p.E1170K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1178					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCAGGATTTCGCGCAGCCTG	0.627																																						dbGAP											0													31.0	35.0	34.0					1																	27682984		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3532G>A	1.37:g.27682984C>T	ENSP00000419591:p.Glu1178Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1178K	ENST00000493901.1	37	c.3532	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304964	0.40795	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000374036;ENST00000357582	T;T;T	0.69306	-0.39;-0.39;-0.39	5.45	1.47	0.22746	.	.	.	.	.	T	0.50137	0.1598	L	0.43152	1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34279	-0.9835	8	.	.	.	.	1.4231	0.02317	0.1443:0.4471:0.1585:0.2501	.	1170;1178	O95382-3;O95382	.;M3K6_HUMAN	K	1170;1178;16;1178	ENSP00000363152:E1170K;ENSP00000419591:E1178K;ENSP00000350195:E1178K	.	E	-	1	0	MAP3K6	27555571	0.000000	0.05858	0.004000	0.12327	0.008000	0.06430	-0.497000	0.06428	0.012000	0.14892	-0.211000	0.12701	GAA	MAP3K6	-	NULL	ENSG00000142733		0.627	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	46	0.00	0	C	NM_004672		27682984	27682984	-1	no_errors	ENST00000357582	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.000	T
MAP3K7	6885	genome.wustl.edu	37	6	91261814	91261814	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:91261814C>T	ENST00000369329.3	-	8	982	c.821G>A	c.(820-822)cGc>cAc	p.R274H	MAP3K7_ENST00000369327.3_Missense_Mutation_p.R274H|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R274H|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R274H|MAP3K7_ENST00000369320.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	274	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CATTGAAGGGCGCTGGGAAGG	0.408																																						dbGAP											0													121.0	117.0	118.0					6																	91261814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.821G>A	6.37:g.91261814C>T	ENSP00000358335:p.Arg274His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R274H	ENST00000369329.3	37	c.821	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779879	0.90195	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.76	3.99	0.46301	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.109878	0.64402	D	0.000005	D	0.89632	0.6771	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92570	0.6065	10	0.87932	D	0	.	12.6604	0.56811	0.0:0.866:0.0:0.134	.	274;274;274;274	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	H	274;274;274;274;201	ENSP00000358338:R274H;ENSP00000358335:R274H;ENSP00000358331:R274H;ENSP00000358333:R274H	ENSP00000358331:R274H	R	-	2	0	MAP3K7	91318535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.544000	0.82117	0.902000	0.36520	0.650000	0.86243	CGC	MAP3K7	-	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000135341		0.408	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	465	0.00	0	C	NM_145331		91261814	91261814	-1	no_errors	ENST00000369329	ensembl	human	known	69_37n	missense	266	20.00	67	SNP	1.000	T
MAP4K3	8491	genome.wustl.edu	37	2	39499674	39499674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:39499674G>A	ENST00000263881.3	-	25	2128	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.R518*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.R155*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.R581*	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	602	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTACACCTTCGAGGGAATAGC	0.294																																						dbGAP											0													71.0	74.0	73.0					2																	39499674		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1804C>T	2.37:g.39499674G>A	ENSP00000263881:p.Arg602*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Nonsense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R602*	ENST00000263881.3	37	c.1804	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.882973	0.98990	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5837	0.95482	0.0:0.0:1.0:0.0	.	.	.	.	X	602;518;581;155	.	ENSP00000263881:R602X	R	-	1	2	MAP4K3	39353178	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.011000	0.57124	2.630000	0.89119	0.655000	0.94253	CGA	MAP4K3	-	pfam_Citron,smart_Citron	ENSG00000011566		0.294	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	132	0.00	0	G	NM_003618		39499674	39499674	-1	no_errors	ENST00000263881	ensembl	human	known	69_37n	nonsense	67	29.47	28	SNP	1.000	A
MAP6	4135	genome.wustl.edu	37	11	75298536	75298536	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:75298536C>A	ENST00000304771.3	-	4	2760	c.2010G>T	c.(2008-2010)aaG>aaT	p.K670N	MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.K341N	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	670	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AACCTTGATTCTTTACAGGCT	0.488																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	dbGAP											0													164.0	153.0	157.0					11																	75298536		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2010G>T	11.37:g.75298536C>A	ENSP00000307093:p.Lys670Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	pfam_STOP/FAM154	p.K670N	ENST00000304771.3	37	c.2010	CCDS31641.1	11	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604126	0.46423	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.52526	0.66	4.53	2.62	0.31277	.	0.123853	0.37012	N	0.002288	T	0.42810	0.1219	M	0.68317	2.08	0.09310	N	0.999997	P	0.44877	0.845	B	0.41860	0.368	T	0.26815	-1.0092	10	0.21540	T	0.41	-15.7986	9.0068	0.36117	0.0:0.8093:0.0:0.1907	.	670	Q96JE9	MAP6_HUMAN	N	670;341;341	ENSP00000307093:K670N	ENSP00000307093:K670N	K	-	3	2	MAP6	74976184	0.000000	0.05858	0.009000	0.14445	0.119000	0.20118	-0.355000	0.07671	0.608000	0.30000	0.655000	0.94253	AAG	MAP6	-	NULL	ENSG00000171533		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	HGNC	protein_coding	OTTHUMT00000383527.1	299	0.33	1	C	NM_033063		75298536	75298536	-1	no_errors	ENST00000304771	ensembl	human	known	69_37n	missense	148	27.09	55	SNP	0.019	A
MAP7	9053	genome.wustl.edu	37	6	136693703	136693703	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:136693703C>T	ENST00000354570.3	-	8	1222	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	MAP7_ENST00000544465.1_Missense_Mutation_p.R256Q|MAP7_ENST00000454590.1_Missense_Mutation_p.R293Q|MAP7_ENST00000432797.2_Missense_Mutation_p.R125Q|MAP7_ENST00000438100.2_Missense_Mutation_p.R256Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	271					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GAGTTTTGGTCGATCCATCGA	0.522																																						dbGAP											0													209.0	182.0	191.0					6																	136693703		2203	4300	6503	-	-	-	SO:0001583	missense	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.812G>A	6.37:g.136693703C>T	ENSP00000346581:p.Arg271Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_E-MAP-115	p.R293Q	ENST00000354570.3	37	c.878	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981860	0.74474	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.67	5.67	0.87782	.	0.000000	0.42420	D	0.000716	T	0.45756	0.1358	M	0.84326	2.69	0.49915	D	0.999835	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.994;0.992;0.996;0.992;0.978;0.997;0.997;0.992	T	0.41088	-0.9528	10	0.48119	T	0.1	-9.9838	19.7523	0.96271	0.0:1.0:0.0:0.0	.	256;293;256;293;293;177;234;271	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	Q	271;293;256;256;125;177	ENSP00000346581:R271Q;ENSP00000414712:R293Q;ENSP00000445737:R256Q;ENSP00000400790:R256Q;ENSP00000414879:R125Q	ENSP00000344217:R177Q	R	-	2	0	MAP7	136735396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.339000	0.43965	2.679000	0.91253	0.591000	0.81541	CGA	MAP7	-	NULL	ENSG00000135525		0.522	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	334	0.00	0	C	NM_003980		136693703	136693703	-1	no_errors	ENST00000454590	ensembl	human	known	69_37n	missense	279	10.54	33	SNP	1.000	T
MAP9	79884	genome.wustl.edu	37	4	156274379	156274379	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:156274379C>A	ENST00000311277.4	-	11	1757	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000609254.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K474N|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	498					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGTTTTCTTCTTGTTTTTTT	0.333																																						dbGAP											0													107.0	104.0	105.0					4																	156274379		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1494G>T	4.37:g.156274379C>A	ENSP00000310593:p.Lys498Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.K498N	ENST00000311277.4	37	c.1494	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279478	0.59758	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.09445	2.98;2.98	5.23	3.47	0.39725	.	1.014780	0.07837	N	0.962393	T	0.28566	0.0707	M	0.65498	2.005	0.80722	D	1	P;D;P	0.76494	0.77;0.999;0.77	P;D;P	0.64776	0.451;0.929;0.451	T	0.00489	-1.1709	10	0.62326	D	0.03	-14.1281	7.8351	0.29365	0.0:0.7355:0.0:0.2645	.	473;498;498	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	N	498;474	ENSP00000310593:K498N;ENSP00000427402:K474N	ENSP00000310593:K498N	K	-	3	2	MAP9	156493829	0.980000	0.34600	1.000000	0.80357	0.988000	0.76386	0.467000	0.22035	0.660000	0.30964	0.655000	0.94253	AAG	MAP9	-	NULL	ENSG00000164114		0.333	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	499	0.00	0	C	NM_001039580		156274379	156274379	-1	no_errors	ENST00000311277	ensembl	human	known	69_37n	missense	192	28.09	75	SNP	0.954	A
MAPK6	5597	genome.wustl.edu	37	15	52356227	52356227	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52356227G>A	ENST00000261845.5	+	6	2003	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	399					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.R399Q(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTGATCCCCGAAAATATTTG	0.408																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											89.0	83.0	85.0					15																	52356227		2195	4293	6488	-	-	-	SO:0001583	missense	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1196G>A	15.37:g.52356227G>A	ENSP00000261845:p.Arg399Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4	p.R399Q	ENST00000261845.5	37	c.1196	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.276927	0.95459	.	.	ENSG00000069956	ENST00000261845	T	0.45668	0.89	5.26	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.59436	1.845	0.80722	D	1	B	0.24533	0.105	B	0.12156	0.007	T	0.43893	-0.9363	10	0.87932	D	0	-6.9633	14.2942	0.66300	0.0731:0.0:0.9269:0.0	.	399	Q16659	MK06_HUMAN	Q	399	ENSP00000261845:R399Q	ENSP00000261845:R399Q	R	+	2	0	MAPK6	50143519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.211000	0.95120	2.501000	0.84356	0.644000	0.83932	CGA	MAPK6	-	NULL	ENSG00000069956		0.408	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	259	0.00	0	G	NM_002748		52356227	52356227	+1	no_errors	ENST00000261845	ensembl	human	known	69_37n	missense	162	30.17	70	SNP	1.000	A
MAPKAP1	79109	genome.wustl.edu	37	9	128322034	128322034	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:128322034G>A	ENST00000373498.1	-	5	794	c.726C>T	c.(724-726)gaC>gaT	p.D242D	MAPKAP1_ENST00000373503.3_Silent_p.D50D|MAPKAP1_ENST00000373511.2_Silent_p.D242D|MAPKAP1_ENST00000350766.3_Silent_p.D242D|MAPKAP1_ENST00000265960.3_Silent_p.D242D|MAPKAP1_ENST00000394060.3_Silent_p.D242D|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000394063.1_Silent_p.D50D			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	242	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GGAAATCGGTGTCCACCTCCC	0.493																																						dbGAP											0													86.0	71.0	76.0					9																	128322034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.726C>T	9.37:g.128322034G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	pfam_SIN1	p.D242	ENST00000373498.1	37	c.726	CCDS35140.1	9																																																																																			MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.493	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	156	0.00	0	G			128322034	128322034	-1	no_errors	ENST00000265960	ensembl	human	known	69_37n	silent	87	14.56	15	SNP	1.000	A
MARCH11	441061	genome.wustl.edu	37	5	16091158	16091158	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:16091158T>G	ENST00000332432.8	-	3	925	c.726A>C	c.(724-726)aaA>aaC	p.K242N	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	242					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TCATCTGAACTTTCTCAACCA	0.408																																						dbGAP											0													53.0	53.0	53.0					5																	16091158		1891	4102	5993	-	-	-	SO:0001583	missense	0			BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.726A>C	5.37:g.16091158T>G	ENSP00000333181:p.Lys242Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2S6	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.K242N	ENST00000332432.8	37	c.726	CCDS47192.1	5	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262399	0.80358	.	.	ENSG00000183654	ENST00000332432	T	0.55760	0.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.66093	-0.6009	10	0.87932	D	0	-12.1026	15.6674	0.77242	0.0:0.0:0.0:1.0	.	242	A6NNE9	MARHB_HUMAN	N	242	ENSP00000333181:K242N	ENSP00000333181:K242N	K	-	3	2	MARCH11	16144158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.116000	0.64780	0.533000	0.62120	AAA	MARCH11	-	NULL	ENSG00000183654		0.408	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MARCH11	HGNC	protein_coding	OTTHUMT00000366096.2	219	0.00	0	T	NM_001102562		16091158	16091158	-1	no_errors	ENST00000332432	ensembl	human	known	69_37n	missense	154	24.51	50	SNP	1.000	G
MASTL	84930	genome.wustl.edu	37	10	27459939	27459939	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27459939C>T	ENST00000375940.4	+	8	2108	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.S684L|MASTL_ENST00000342386.6_Missense_Mutation_p.S684L			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	684	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGATATTTCGTGTGCCTAC	0.358																																						dbGAP											0													119.0	123.0	122.0					10																	27459939		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2051C>T	10.37:g.27459939C>T	ENSP00000365107:p.Ser684Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S684L	ENST00000375940.4	37	c.2051	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738102	0.69304	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.19669	2.13;2.13;2.13	5.53	5.53	0.82687	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.40739	-0.9547	10	0.45353	T	0.12	-10.5363	18.4494	0.90697	0.0:1.0:0.0:0.0	.	684;684;684	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	L	684	ENSP00000365113:S684L;ENSP00000343446:S684L;ENSP00000365107:S684L	ENSP00000343446:S684L	S	+	2	0	MASTL	27499945	1.000000	0.71417	0.675000	0.29917	0.450000	0.32258	5.770000	0.68873	2.592000	0.87571	0.591000	0.81541	TCG	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000120539		0.358	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	212	0.00	0	C	NM_032844		27459939	27459939	+1	no_errors	ENST00000375940	ensembl	human	known	69_37n	missense	166	12.17	23	SNP	0.995	T
MAT2B	27430	genome.wustl.edu	37	5	162945299	162945299	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:162945299G>A	ENST00000321757.6	+	7	1074	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	MAT2B_ENST00000280969.5_Missense_Mutation_p.R301Q|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000521838.2_3'UTR	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	312					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)	p.R301Q(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	ACACCATTTCGAATTGGAATC	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											99.0	93.0	95.0					5																	162945299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.935G>A	5.37:g.162945299G>A	ENSP00000325425:p.Arg312Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase	p.R312Q	ENST00000321757.6	37	c.935	CCDS4365.1	5	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966825	0.34659	.	.	ENSG00000038274	ENST00000280969;ENST00000321757;ENST00000415433	T;T	0.48522	0.81;0.81	5.89	4.12	0.48240	.	0.228482	0.34959	N	0.003558	T	0.25865	0.0630	N	0.22421	0.69	0.80722	D	1	P;P	0.44344	0.833;0.799	B;B	0.22753	0.041;0.025	T	0.03641	-1.1017	10	0.34782	T	0.22	.	12.8747	0.57984	0.1198:0.0:0.8802:0.0	.	312;301	Q9NZL9;Q9NZL9-2	MAT2B_HUMAN;.	Q	301;312;206	ENSP00000280969:R301Q;ENSP00000325425:R312Q	ENSP00000280969:R301Q	R	+	2	0	MAT2B	162877877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.007000	0.63984	0.833000	0.34828	0.655000	0.94253	CGA	MAT2B	-	pfam_dTDP_dehydrorham_reduct	ENSG00000038274		0.423	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2	280	0.00	0	G	NM_013283		162945299	162945299	+1	no_errors	ENST00000321757	ensembl	human	known	69_37n	missense	150	28.57	60	SNP	0.999	A
MATN2	4147	genome.wustl.edu	37	8	98943356	98943356	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:98943356G>T	ENST00000520016.1	+	2	442	c.318G>T	c.(316-318)aaG>aaT	p.K106N	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.K106N|MATN2_ENST00000254898.5_Missense_Mutation_p.K106N|MATN2_ENST00000524308.1_Missense_Mutation_p.K106N			O00339	MATN2_HUMAN	matrilin 2	106	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GCACTGTCAAGAATGAGTTCT	0.542																																						dbGAP											0													72.0	76.0	74.0					8																	98943356		2080	4234	6314	-	-	-	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.318G>T	8.37:g.98943356G>T	ENSP00000430487:p.Lys106Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.K106N	ENST00000520016.1	37	c.318	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656250	0.67586	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.64	4.76	0.60689	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000007	D	0.87485	0.6189	L	0.58428	1.81	0.46396	D	0.999029	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	D	0.87339	0.2330	10	0.87932	D	0	-31.615	8.1864	0.31341	0.2165:0.0:0.7835:0.0	.	106;106;106	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	N	106	ENSP00000429977:K106N;ENSP00000254898:K106N;ENSP00000430221:K106N;ENSP00000430487:K106N	ENSP00000254898:K106N	K	+	3	2	MATN2	99012532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.618000	0.46393	2.673000	0.90976	0.591000	0.81541	AAG	MATN2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000132561		0.542	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	106	0.00	0	G			98943356	98943356	+1	no_errors	ENST00000254898	ensembl	human	known	69_37n	missense	80	12.09	11	SNP	1.000	T
MAX	4149	genome.wustl.edu	37	14	65560476	65560476	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:65560476C>A	ENST00000358664.4	-	3	251	c.121G>T	c.(121-123)Gac>Tac	p.D41Y	MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555667.1_Missense_Mutation_p.D32Y|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000341653.2_Missense_Mutation_p.D41Y|MAX_ENST00000556443.1_Missense_Mutation_p.D32Y|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000557746.1_Missense_Mutation_p.D32Y|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000246163.2_Missense_Mutation_p.D41Y|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000284165.6_Missense_Mutation_p.D41Y|MAX_ENST00000555419.1_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.D32Y|MAX_ENST00000556979.1_Missense_Mutation_p.D41Y	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	41	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TGAAAGCTGTCTTTGATGTGG	0.473																																						dbGAP											0													208.0	170.0	183.0					14																	65560476		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.121G>T	14.37:g.65560476C>A	ENSP00000351490:p.Asp41Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D41Y	ENST00000358664.4	37	c.121	CCDS9771.1	14	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876309	0.91664	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000284165;ENST00000358664;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82;-4.82	6.04	6.04	0.98038	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.84773	2.715	0.80722	D	1	P;P;B;P;P;B;D	0.89917	0.642;0.932;0.285;0.951;0.85;0.307;1.0	P;P;B;P;P;B;D	0.91635	0.56;0.652;0.202;0.709;0.775;0.16;0.999	D	0.99701	1.1004	10	0.72032	D	0.01	-12.1607	19.3663	0.94464	0.0:1.0:0.0:0.0	.	41;41;32;32;41;41;41	Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;MAX_HUMAN;.;.	Y	41;32;41;41;48;41;32;32;32;41	ENSP00000342482:D41Y;ENSP00000351175:D32Y;ENSP00000284165:D41Y;ENSP00000351490:D41Y;ENSP00000452378:D41Y;ENSP00000452286:D32Y;ENSP00000452197:D32Y;ENSP00000450818:D32Y;ENSP00000246163:D41Y	ENSP00000246163:D41Y	D	-	1	0	MAX	64630229	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.511000	0.81718	2.873000	0.98535	0.563000	0.77884	GAC	MAX	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000125952		0.473	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	401	0.00	0	C	NM_197957		65560476	65560476	-1	no_errors	ENST00000358664	ensembl	human	known	69_37n	missense	174	35.07	94	SNP	1.000	A
MBD1	4152	genome.wustl.edu	37	18	47800616	47800616	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:47800616G>A	ENST00000591416.1	-	11	1517	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	MBD1_ENST00000269471.5_Silent_p.F339F|MBD1_ENST00000585672.1_Silent_p.F312F|MBD1_ENST00000339998.6_Silent_p.F362F|MBD1_ENST00000424334.2_Silent_p.F413F|MBD1_ENST00000353909.3_Silent_p.F313F|MBD1_ENST00000436910.1_Silent_p.F339F|MBD1_ENST00000588937.1_Silent_p.F339F|MBD1_ENST00000457839.2_Silent_p.F387F|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000590208.1_Silent_p.F362F|MBD1_ENST00000585595.1_Silent_p.F387F|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_Silent_p.F362F|MBD1_ENST00000591535.1_Silent_p.F339F|MBD1_ENST00000382948.5_Silent_p.F362F|MBD1_ENST00000398495.2_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	362					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCTGCCCCCGAATTTGGGCT	0.642																																						dbGAP											0													64.0	62.0	62.0					18																	47800616		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1086C>T	18.37:g.47800616G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.F413	ENST00000591416.1	37	c.1239	CCDS11943.1	18																																																																																			MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.642	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	47	0.00	0	G	NM_015846		47800616	47800616	-1	no_errors	ENST00000424334	ensembl	human	known	69_37n	silent	11	21.43	3	SNP	0.646	A
MBD5	55777	genome.wustl.edu	37	2	149247432	149247432	+	Missense_Mutation	SNP	G	G	A	rs571209967		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:149247432G>A	ENST00000407073.1	+	12	4529	c.3532G>A	c.(3532-3534)Gaa>Aaa	p.E1178K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1411K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1178					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAATGTGAACGAAGGAGATGG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19560	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													82.0	87.0	86.0					2																	149247432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3532G>A	2.37:g.149247432G>A	ENSP00000386049:p.Glu1178Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.E1178K	ENST00000407073.1	37	c.3532	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935397	0.34189	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.50813	0.73;0.74	5.55	5.55	0.83447	.	0.088034	0.49305	D	0.000149	T	0.31796	0.0808	N	0.14661	0.345	0.58432	D	0.999992	P;P	0.41748	0.761;0.468	B;B	0.31337	0.128;0.128	T	0.34477	-0.9827	10	0.72032	D	0.01	-4.2438	19.6982	0.96039	0.0:0.0:1.0:0.0	.	1411;1178	E9PHH0;Q9P267	.;MBD5_HUMAN	K	1178;1411	ENSP00000386049:E1178K;ENSP00000384672:E1411K	ENSP00000384672:E1411K	E	+	1	0	MBD5	148963902	1.000000	0.71417	0.896000	0.35187	0.323000	0.28346	8.547000	0.90665	2.894000	0.99253	0.655000	0.94253	GAA	MBD5	-	NULL	ENSG00000204406		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	157	0.00	0	G			149247432	149247432	+1	no_errors	ENST00000407073	ensembl	human	known	69_37n	missense	110	28.10	43	SNP	0.998	A
MBNL3	55796	genome.wustl.edu	37	X	131573583	131573583	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:131573583G>T	ENST00000370853.3	-	1	135	c.57C>A	c.(55-57)gtC>gtA	p.V19V	MBNL3_ENST00000370844.1_De_novo_Start_OutOfFrame|MBNL3_ENST00000370839.3_Silent_p.V19V|MBNL3_ENST00000370857.3_Silent_p.V19V	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	19					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					ATTCTCTACAGACTTCTAAAG	0.438																																						dbGAP											0													153.0	153.0	153.0					X																	131573583		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.57C>A	X.37:g.131573583G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Silent	SNP	smart_Znf_CCCH	p.V19	ENST00000370853.3	37	c.57	CCDS14633.1	X																																																																																			MBNL3	-	smart_Znf_CCCH	ENSG00000076770		0.438	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBNL3	HGNC	protein_coding	OTTHUMT00000058319.1	151	0.00	0	G	NM_018388		131573583	131573583	-1	no_errors	ENST00000370853	ensembl	human	known	69_37n	silent	109	14.17	18	SNP	0.993	T
MBNL3	55796	genome.wustl.edu	37	X	131573612	131573612	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:131573612G>A	ENST00000370853.3	-	1	106	c.28C>T	c.(28-30)Cgt>Tgt	p.R10C	MBNL3_ENST00000370844.1_Intron|MBNL3_ENST00000370839.3_Missense_Mutation_p.R10C|MBNL3_ENST00000370857.3_Missense_Mutation_p.R10C	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	10					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TTGGTATCACGAATCAGGGCA	0.398																																						dbGAP											0													141.0	143.0	142.0					X																	131573612		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.28C>T	X.37:g.131573612G>A	ENSP00000359890:p.Arg10Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Missense_Mutation	SNP	smart_Znf_CCCH	p.R10C	ENST00000370853.3	37	c.28	CCDS14633.1	X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030215	0.75504	.	.	ENSG00000076770	ENST00000370857;ENST00000370853;ENST00000370839	T;T;T	0.61980	0.06;0.06;0.06	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85087	0.0949	10	0.87932	D	0	-12.4493	18.8948	0.92419	0.0:0.0:1.0:0.0	.	10;10	Q9NUK0;Q9NUK0-2	MBNL3_HUMAN;.	C	10	ENSP00000359894:R10C;ENSP00000359890:R10C;ENSP00000359876:R10C	ENSP00000359876:R10C	R	-	1	0	MBNL3	131401293	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.738000	0.62073	2.410000	0.81850	0.523000	0.50628	CGT	MBNL3	-	NULL	ENSG00000076770		0.398	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBNL3	HGNC	protein_coding	OTTHUMT00000058319.1	138	0.00	0	G	NM_018388		131573612	131573612	-1	no_errors	ENST00000370853	ensembl	human	known	69_37n	missense	103	11.02	13	SNP	1.000	A
MBOAT7	79143	genome.wustl.edu	37	19	54692350	54692350	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:54692350C>A	ENST00000245615.1	-	2	493	c.13G>T	c.(13-15)Gaa>Taa	p.E5*	TSEN34_ENST00000396388.2_5'Flank|MBOAT7_ENST00000431666.2_5'UTR|MBOAT7_ENST00000338624.6_Intron|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000474910.1_Intron|TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000391754.1_Nonsense_Mutation_p.E5*	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	5					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TACGTCCATTCTTCAGGCGAC	0.562											OREG0003643	type=REGULATORY REGION|Gene=LENG4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									NSCLC(97;826 2151 10470 22540)	dbGAP											0													44.0	44.0	44.0					19																	54692350		2180	4246	6426	-	-	-	SO:0001587	stop_gained	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.13G>T	19.37:g.54692350C>A	ENSP00000245615:p.Glu5*	Somatic	1002	WXS	Illumina GAIIx	Phase_IV	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Nonsense_Mutation	SNP	pfam_MBOAT_fam	p.E5*	ENST00000245615.1	37	c.13	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.520898	0.97633	.	.	ENSG00000125505	ENST00000245615;ENST00000391754;ENST00000414665;ENST00000453320	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.6539	15.0195	0.71617	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	ENSP00000245615:E5X	E	-	1	0	MBOAT7	59384162	1.000000	0.71417	0.838000	0.33150	0.987000	0.75469	6.037000	0.70956	2.369000	0.80426	0.555000	0.69702	GAA	MBOAT7	-	NULL	ENSG00000125505		0.562	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	149	0.00	0	C	NM_024298		54692350	54692350	-1	no_errors	ENST00000245615	ensembl	human	known	69_37n	nonsense	111	10.48	13	SNP	0.999	A
MBTD1	54799	genome.wustl.edu	37	17	49296375	49296375	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:49296375G>T	ENST00000586178.1	-	5	662	c.319C>A	c.(319-321)Ctt>Att	p.L107I	MBTD1_ENST00000376381.2_Missense_Mutation_p.L107I|MBTD1_ENST00000415868.1_Missense_Mutation_p.L107I	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	107					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TGTTTCTGAAGAACTTTTGCT	0.383																																						dbGAP											0													254.0	192.0	211.0					17																	49296375		692	1591	2283	-	-	-	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.319C>A	17.37:g.49296375G>T	ENSP00000468304:p.Leu107Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.L107I	ENST00000586178.1	37	c.319	CCDS11581.2	17	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460304	0.63401	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.25749	1.8;1.78	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.49350	1.555	0.58432	D	0.999994	P;D	0.71674	0.896;0.998	P;D	0.63488	0.564;0.915	T	0.07731	-1.0757	10	0.23302	T	0.38	.	18.998	0.92821	0.0:0.0:1.0:0.0	.	107;107	Q05BQ5;Q05BQ5-2	MBTD1_HUMAN;.	I	107	ENSP00000403946:L107I;ENSP00000365561:L107I	ENSP00000365561:L107I	L	-	1	0	MBTD1	46651374	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.353000	0.79414	2.486000	0.83907	0.561000	0.74099	CTT	MBTD1	-	NULL	ENSG00000011258		0.383	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	231	0.00	0	G			49296375	49296375	-1	no_errors	ENST00000415868	ensembl	human	known	69_37n	missense	145	17.14	30	SNP	1.000	T
MCAM	4162	genome.wustl.edu	37	11	119181151	119181151	+	Missense_Mutation	SNP	C	C	T	rs201149343		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:119181151C>T	ENST00000264036.4	-	15	1833	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	607					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E607K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACTACAAGTTCGCTCTTACGA	0.592																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											108.0	109.0	109.0					11																	119181151		2199	4295	6494	-	-	-	SO:0001583	missense	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1819G>A	11.37:g.119181151C>T	ENSP00000264036:p.Glu607Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E607K	ENST00000264036.4	37	c.1819	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598639	0.46318	.	.	ENSG00000076706	ENST00000264036	T	0.57907	0.37	5.28	4.37	0.52481	.	.	.	.	.	T	0.29223	0.0727	N	0.17474	0.49	0.80722	D	1	P	0.40638	0.725	B	0.23716	0.048	T	0.11251	-1.0595	9	0.41790	T	0.15	-13.4298	11.1149	0.48254	0.0:0.846:0.0:0.154	.	607	P43121	MUC18_HUMAN	K	607	ENSP00000264036:E607K	ENSP00000264036:E607K	E	-	1	0	MCAM	118686361	1.000000	0.71417	0.830000	0.32933	0.793000	0.44817	3.841000	0.55850	1.219000	0.43474	0.563000	0.77884	GAA	MCAM	-	NULL	ENSG00000076706		0.592	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	58	0.00	0	C			119181151	119181151	-1	no_errors	ENST00000264036	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.997	T
MCC	4163	genome.wustl.edu	37	5	112364657	112364657	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:112364657G>A	ENST00000302475.4	-	16	2846	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	MCC_ENST00000408903.3_Silent_p.F951F|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Silent_p.F698F	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	761					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.F951F(1)|p.F761F(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATCATTCACGAACTCTGCAG	0.507																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											175.0	177.0	176.0					5																	112364657		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2283C>T	5.37:g.112364657G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT05|Q6ZR04	Silent	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.F761	ENST00000302475.4	37	c.2283	CCDS4111.1	5																																																																																			MCC	-	pfam_USH1C-bd_PDZ_domain	ENSG00000171444		0.507	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	329	0.00	0	G	NM_001085377		112364657	112364657	-1	no_errors	ENST00000302475	ensembl	human	known	69_37n	silent	212	12.76	31	SNP	0.187	A
MCF2	4168	genome.wustl.edu	37	X	138687895	138687895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:138687895G>A	ENST00000370576.4	-	13	1743	c.1534C>T	c.(1534-1536)Cga>Tga	p.R512*	MCF2_ENST00000370573.4_Nonsense_Mutation_p.R512*|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Nonsense_Mutation_p.R572*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.R572*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.R473*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.R588*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.R528*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.R657*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	512	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R588*(1)|p.R512*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TACAGTTCTCGAACATAAACT	0.343																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											198.0	193.0	195.0					X																	138687895		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1534C>T	X.37:g.138687895G>A	ENSP00000359608:p.Arg512*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R657*	ENST00000370576.4	37	c.1969	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.032626|6.032626	0.97221|0.97221	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	.|.	.|.	.|.	5.48|5.48	3.65|3.65	0.41850|0.41850	.|.	0.353444|.	0.30219|.	N|.	0.010126|.	.|T	.|0.43919	.|0.1269	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53578	.|-0.8419	.|3	0.02654|.	T|.	1|.	.|.	7.5645|7.5645	0.27870|0.27870	0.0:0.4181:0.4489:0.133|0.0:0.4181:0.4489:0.133	.|.	.|.	.|.	.|.	X|L	572;512;473;657;572;115;588;512;528|15	.|.	ENSP00000342204:R528X|.	R|S	-|-	1|2	2|0	MCF2|MCF2	138515561|138515561	1.000000|1.000000	0.71417|0.71417	0.646000|0.646000	0.29493|0.29493	0.178000|0.178000	0.23041|0.23041	3.944000|3.944000	0.56629|0.56629	1.078000|1.078000	0.41014|0.41014	0.538000|0.538000	0.68166|0.68166	CGA|TCG	MCF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000101977		0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	748	0.00	0	G	NM_005369		138687895	138687895	-1	no_errors	ENST00000370578	ensembl	human	known	69_37n	nonsense	401	12.64	58	SNP	0.994	A
MCF2	4168	genome.wustl.edu	37	X	138699719	138699719	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:138699719G>A	ENST00000370576.4	-	8	1161	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	MCF2_ENST00000370573.4_Missense_Mutation_p.R318W|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Missense_Mutation_p.R378W|MCF2_ENST00000414978.1_Missense_Mutation_p.R378W|MCF2_ENST00000536274.1_Missense_Mutation_p.R279W|MCF2_ENST00000519895.1_Missense_Mutation_p.R378W|MCF2_ENST00000338585.6_Missense_Mutation_p.R318W|MCF2_ENST00000370578.4_Missense_Mutation_p.R463W	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	318					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGTTGTATCCGTTTTGCTTTT	0.383													G|||	1	0.000264901	0.0	0.0	3775	,	,		14328	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													220.0	180.0	193.0					X																	138699719		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.952C>T	X.37:g.138699719G>A	ENSP00000359608:p.Arg318Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R463W	ENST00000370576.4	37	c.1387	CCDS14667.1	X	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626020	0.46840	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.98	3.01	0.34805	.	0.643240	0.17622	N	0.167685	T	0.55481	0.1923	M	0.66297	2.02	0.20563	N	0.999886	B;D;B;B;B;B;D;B	0.69078	0.054;0.997;0.155;0.031;0.034;0.096;0.997;0.157	B;P;B;B;B;B;P;B	0.59424	0.038;0.634;0.036;0.038;0.013;0.038;0.857;0.038	T	0.42632	-0.9440	10	0.34782	T	0.22	.	5.3569	0.16065	0.0754:0.1314:0.5553:0.2379	.	378;463;279;318;318;463;318;318	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	W	378;318;279;463;378;378;318;318	ENSP00000427745:R378W;ENSP00000359608:R318W;ENSP00000438155:R279W;ENSP00000359610:R463W;ENSP00000397055:R378W;ENSP00000430276:R378W;ENSP00000359605:R318W;ENSP00000342204:R318W	ENSP00000342204:R318W	R	-	1	2	MCF2	138527385	0.209000	0.23505	0.091000	0.20842	0.881000	0.50899	1.154000	0.31688	0.604000	0.29930	0.544000	0.68410	CGG	MCF2	-	smart_Spectrin/alpha-actinin	ENSG00000101977		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	627	0.00	0	G	NM_005369		138699719	138699719	-1	no_errors	ENST00000370578	ensembl	human	known	69_37n	missense	403	24.02	128	SNP	0.249	A
MCF2L	23263	genome.wustl.edu	37	13	113728862	113728862	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:113728862C>T	ENST00000375608.3	+	11	1249	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	MCF2L_ENST00000397030.1_Silent_p.F400F|MCF2L_ENST00000375604.2_Silent_p.F424F|MCF2L_ENST00000375597.4_Silent_p.F365F|MCF2L_ENST00000423482.2_Silent_p.F365F|MCF2L_ENST00000442652.2_Silent_p.F397F|MCF2L_ENST00000434480.2_Silent_p.F373F|MCF2L_ENST00000535094.2_Silent_p.F367F|MCF2L_ENST00000421756.1_Silent_p.F371F|MCF2L_ENST00000375601.3_Silent_p.F371F			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	397					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGCCAGCTTCGAGGAGAAAT	0.632																																						dbGAP											0													60.0	61.0	61.0					13																	113728862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1191C>T	13.37:g.113728862C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R28*	ENST00000375608.3	37	c.82		13	.	.	.	.	.	.	.	.	.	.	C	0.592	-0.832625	0.02713	.	.	ENSG00000126217	ENST00000397017	.	.	.	4.77	-6.55	0.01854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5011	0.61457	0.0:0.1385:0.0929:0.7686	.	.	.	.	X	28	.	.	R	+	1	2	MCF2L	112776863	0.015000	0.18098	0.293000	0.24932	0.028000	0.11728	-1.277000	0.02812	-1.450000	0.01936	-0.812000	0.03155	CGA	MCF2L	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000126217		0.632	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	40	0.00	0	C			113728862	113728862	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000397017	ensembl	human	novel	69_37n	nonsense	22	31.25	10	SNP	0.508	T
MCF2L2	23101	genome.wustl.edu	37	3	182923979	182923979	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:182923979C>G	ENST00000328913.3	-	24	3033	c.2736G>C	c.(2734-2736)caG>caC	p.Q912H	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.Q912H	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	912	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCCTTCCAAGCTGGCGAATTG	0.423																																						dbGAP											0													137.0	123.0	128.0					3																	182923979		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2736G>C	3.37:g.182923979C>G	ENSP00000328118:p.Gln912His	Somatic		WXS	Illumina GAIIx	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q912H	ENST00000328913.3	37	c.2736	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331817	0.41297	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.12465	2.68;2.68	4.28	-7.25	0.01470	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.229274	0.34362	N	0.004024	T	0.05731	0.0150	N	0.14661	0.345	0.19945	N	0.999941	B	0.12013	0.005	B	0.10450	0.005	T	0.15009	-1.0452	10	0.87932	D	0	.	8.3947	0.32550	0.0:0.2411:0.1138:0.645	.	912	Q86YR7	MF2L2_HUMAN	H	912	ENSP00000328118:Q912H;ENSP00000420070:Q912H	ENSP00000328118:Q912H	Q	-	3	2	MCF2L2	184406673	0.007000	0.16637	0.708000	0.30435	0.794000	0.44872	-1.973000	0.01500	-1.513000	0.01789	-1.008000	0.02478	CAG	MCF2L2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000053524		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	246	0.00	0	C	NM_015078		182923979	182923979	-1	no_errors	ENST00000328913	ensembl	human	known	69_37n	missense	266	16.82	54	SNP	0.117	G
MCM3AP	8888	genome.wustl.edu	37	21	47655303	47655303	+	Missense_Mutation	SNP	G	G	A	rs17183403	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:47655303G>A	ENST00000397708.1	-	29	6076	c.5822C>T	c.(5821-5823)gCg>gTg	p.A1941V	MCM3AP-AS1_ENST00000420074.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1941V|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1941			A -> V (in dbSNP:rs17183403). {ECO:0000269|Ref.2}.		DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.A1941V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CGTTCCTGTCGCCTCTGACAG	0.488																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	77.0	86.0					21																	47655303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5822C>T	21.37:g.47655303G>A	ENSP00000380820:p.Ala1941Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.A1941V	ENST00000397708.1	37	c.5822	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657420	0.29425	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03580	3.88;3.88	4.94	-4.41	0.03590	.	1.268580	0.05297	N	0.522328	T	0.02494	0.0076	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.06405	0.0;0.002	T	0.46498	-0.9187	10	0.39692	T	0.17	-0.342	1.1882	0.01859	0.4096:0.0987:0.1888:0.3029	rs17183403	1941;436	O60318;B3KT88	MCM3A_HUMAN;.	V	1941;1941;436	ENSP00000380820:A1941V;ENSP00000291688:A1941V	ENSP00000291688:A1941V	A	-	2	0	MCM3AP	46479731	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.693000	0.05121	-0.699000	0.05077	-0.137000	0.14449	GCG	MCM3AP	-	NULL	ENSG00000160294		0.488	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	166	0.00	0	G	NM_003906		47655303	47655303	-1	no_errors	ENST00000291688	ensembl	human	known	69_37n	missense	103	28.97	42	SNP	0.000	A
MCM3AP	8888	genome.wustl.edu	37	21	47671602	47671602	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:47671602G>T	ENST00000397708.1	-	21	4391				AP001469.9_ENST00000447037.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|AP001469.9_ENST00000430259.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAATTCTACAGATTTAAAAAA	0.333																																						dbGAP											0													35.0	34.0	34.0					21																	47671602		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4137-6C>A	21.37:g.47671602G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	SNP	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			MCM3AP-AS1	-	-	ENSG00000215424		0.333	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	76	0.00	0	G	NM_003906		47671602	47671602	+1	no_errors	ENST00000414659	ensembl	human	known	69_37n	rna	69	25.81	24	SNP	0.058	T
MCM4	4173	genome.wustl.edu	37	8	48875552	48875552	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:48875552C>T	ENST00000262105.2	+	6	854	c.645C>T	c.(643-645)atC>atT	p.I215I	PRKDC_ENST00000338368.3_5'Flank|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000314191.2_5'Flank|MCM4_ENST00000523944.1_Silent_p.I215I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	215					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GTGAACACATCAAATCATTTG	0.274																																						dbGAP											0													62.0	66.0	65.0					8																	48875552		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.645C>T	8.37:g.48875552C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEH1|Q99658	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.I215	ENST00000262105.2	37	c.645	CCDS6143.1	8																																																																																			MCM4	-	superfamily_NA-bd_OB-fold-like	ENSG00000104738		0.274	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	72	0.00	0	C	NM_005914		48875552	48875552	+1	no_errors	ENST00000262105	ensembl	human	known	69_37n	silent	29	12.12	4	SNP	0.996	T
MCMDC2	157777	genome.wustl.edu	37	8	67791089	67791089	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:67791089G>A	ENST00000422365.2	+	7	815	c.644G>A	c.(643-645)cGt>cAt	p.R215H	MCMDC2_ENST00000492775.1_Missense_Mutation_p.R215H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.R215H|MCMDC2_ENST00000541540.1_Missense_Mutation_p.R152H|MCMDC2_ENST00000396592.3_Missense_Mutation_p.R215H	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	215					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R210H(1)		endometrium(2)|kidney(2)|lung(5)	9						AAGGCACTTCGTGCTTTTCAA	0.274																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											38.0	41.0	40.0					8																	67791089		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.644G>A	8.37:g.67791089G>A	ENSP00000413632:p.Arg215His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	p.R215H	ENST00000422365.2	37	c.644	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750264	0.15778	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.66	-2.77	0.05877	.	0.774096	0.12929	N	0.427522	T	0.08313	0.0207	N	0.00707	-1.245	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33059	-0.9883	10	0.39692	T	0.17	0.4614	9.1128	0.36739	0.5819:0.1296:0.2885:0.0	.	152;215;215;215	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	H	87;215;215;215;215;152	ENSP00000379837:R215H;ENSP00000413632:R215H;ENSP00000428037:R215H;ENSP00000317234:R215H;ENSP00000445629:R152H	ENSP00000317234:R215H	R	+	2	0	C8orf45	67953643	0.118000	0.22208	0.241000	0.24154	0.496000	0.33645	0.088000	0.14979	-0.403000	0.07622	-0.383000	0.06682	CGT	MCMDC2	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	ENSG00000178460		0.274	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	83	0.00	0	G	NM_173518		67791089	67791089	+1	no_errors	ENST00000422365	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	0.121	A
MCOLN3	55283	genome.wustl.edu	37	1	85495051	85495051	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85495051C>A	ENST00000370589.2	-	7	785				WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Intron|MCOLN3_ENST00000370587.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3						auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ctcttcatttctctgtgaaat	0.388																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.733-163G>T	1.37:g.85495051C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	RNA	SNP	-	NULL	ENST00000370589.2	37	NULL	CCDS701.1	1																																																																																			MCOLN3	-	-	ENSG00000055732		0.388	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	33	0.00	0	C	NM_018298		85495051	85495051	-1	no_errors	ENST00000475312	ensembl	human	known	69_37n	rna	18	21.74	5	SNP	0.950	A
MCTS1	28985	genome.wustl.edu	37	X	119739328	119739328	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:119739328G>T	ENST00000371317.5	+	2	335	c.78G>T	c.(76-78)aaG>aaT	p.K26N	MCTS1_ENST00000371315.3_Missense_Mutation_p.K27N|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	26					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						AGGGTATTAAGAATCAATTGA	0.338																																						dbGAP											0													99.0	100.0	100.0					X																	119739328		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.78G>T	X.37:g.119739328G>T	ENSP00000360367:p.Lys26Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY2|Q502X6	Missense_Mutation	SNP	pfam_PUA,superfamily_PUA-like_domain,smart_PUA,pirsf_Transl_RNA-bd_prd,pfscan_PUA,tigrfam_Uncharacterised_CHP00451	p.K27N	ENST00000371317.5	37	c.81	CCDS14601.1	X	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733633	0.48939	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.51817	0.7;0.69	4.92	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.81942	2.565	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.63381	0.914;0.897	T	0.60301	-0.7290	9	.	.	.	-9.6959	6.9721	0.24654	0.2924:0.0:0.7076:0.0	.	27;26	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	N	26;27	ENSP00000360367:K26N;ENSP00000360365:K27N	.	K	+	3	2	MCTS1	119623356	1.000000	0.71417	0.980000	0.43619	0.979000	0.70002	3.079000	0.50104	0.335000	0.23614	0.513000	0.50165	AAG	MCTS1	-	pirsf_Transl_RNA-bd_prd	ENSG00000232119		0.338	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTS1	HGNC	protein_coding	OTTHUMT00000058110.1	136	0.00	0	G	NM_014060		119739328	119739328	+1	no_errors	ENST00000371315	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	1.000	T
MDGA2	161357	genome.wustl.edu	37	14	47613280	47613280	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:47613280C>T	ENST00000399232.2	-	4	950		c.e4+1		MDGA2_ENST00000357362.3_Splice_Site|MDGA2_ENST00000439988.3_Splice_Site|MDGA2_ENST00000426342.1_Splice_Site	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2						pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAATTCATACCTGGGTAAAG	0.408																																						dbGAP											0													118.0	103.0	108.0					14																	47613280		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.585+1G>A	14.37:g.47613280C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F6W3S7|J3KPX6	Splice_Site	SNP	-	e4+1	ENST00000399232.2	37	c.792+1		14	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447048	0.84101	.	.	ENSG00000139915	ENST00000439988;ENST00000399232	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4708	0.90774	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDGA2	46683030	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.412000	0.80091	2.718000	0.92993	0.585000	0.79938	.	MDGA2	-	-	ENSG00000139915		0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	214	0.00	0	C	NM_182830	Intron	47613280	47613280	-1	no_errors	ENST00000399232	ensembl	human	known	69_37n	splice_site	138	26.20	49	SNP	1.000	T
MDGA2	161357	genome.wustl.edu	37	14	47687339	47687339	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:47687339G>T	ENST00000399232.2	-	3	637	c.273C>A	c.(271-273)ttC>ttA	p.F91L	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.F160L|MDGA2_ENST00000426342.1_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	91	Ig-like 1.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGTCTCATTGAAGACACTTG	0.438																																						dbGAP											0													136.0	111.0	118.0					14																	47687339		692	1591	2283	-	-	-	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.273C>A	14.37:g.47687339G>T	ENSP00000382178:p.Phe91Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.F160L	ENST00000399232.2	37	c.480		14	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484908	0.63962	.	.	ENSG00000139915	ENST00000439988;ENST00000399232;ENST00000486952	T;T;T	0.65732	-0.17;-0.17;-0.17	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39020	U	0.001494	T	0.42517	0.1206	N	0.03324	-0.35	0.80722	D	1	B	0.14805	0.011	B	0.30716	0.119	T	0.36915	-0.9728	10	0.09590	T	0.72	.	18.2303	0.89933	0.0:0.0:1.0:0.0	.	91	Q7Z553	MDGA2_HUMAN	L	91;160;115	ENSP00000400011:F91L;ENSP00000382178:F160L;ENSP00000452515:F115L	ENSP00000382178:F160L	F	-	3	2	MDGA2	46757089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.954000	0.87848	2.710000	0.92621	0.655000	0.94253	TTC	MDGA2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000139915		0.438	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	272	0.00	0	G	NM_182830		47687339	47687339	-1	no_errors	ENST00000399232	ensembl	human	known	69_37n	missense	137	17.47	29	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90383867	90383867	+	Silent	SNP	G	G	A	rs558069999		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:90383867G>A	ENST00000369393.3	-	79	13318	c.13203C>T	c.(13201-13203)gtC>gtT	p.V4401V	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.V4401V|MDN1_ENST00000468568.1_5'Flank			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4401					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAATTTTGTCGACGTCAGCTT	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18553	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													87.0	80.0	82.0					6																	90383867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13203C>T	6.37:g.90383867G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V4401	ENST00000369393.3	37	c.13203	CCDS5024.1	6																																																																																			MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.423	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	135	0.00	0	G			90383867	90383867	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	silent	100	24.06	32	SNP	0.120	A
ME2	4200	genome.wustl.edu	37	18	48446853	48446853	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:48446853C>T	ENST00000321341.5	+	8	1034	c.762C>T	c.(760-762)ttC>ttT	p.F254F	ME2_ENST00000382927.3_Silent_p.F254F	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	254					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TCATTCAGTTCGAAGACTTTG	0.338																																						dbGAP											0													83.0	80.0	81.0					18																	48446853		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.762C>T	18.37:g.48446853C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.F254	ENST00000321341.5	37	c.762	CCDS11948.1	18																																																																																			ME2	-	pfam_Malic_N,prints_Malic_OxRdtase	ENSG00000082212		0.338	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	202	0.00	0	C	NM_002396		48446853	48446853	+1	no_errors	ENST00000321341	ensembl	human	known	69_37n	silent	97	28.15	38	SNP	1.000	T
ME3	10873	genome.wustl.edu	37	11	86161370	86161370	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:86161370G>T	ENST00000393324.3	-	8	1243	c.990C>A	c.(988-990)caC>caA	p.H330Q	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.H330Q|ME3_ENST00000359636.2_Missense_Mutation_p.H330Q	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	330					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				AAACAAACACGTGATTGGAAA	0.498																																						dbGAP											0													108.0	94.0	99.0					11																	86161370		2202	4299	6501	-	-	-	SO:0001583	missense	0			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.990C>A	11.37:g.86161370G>T	ENSP00000376998:p.His330Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.H330Q	ENST00000393324.3	37	c.990	CCDS8277.1	11	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684704	0.29872	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.83	-9.12	0.00707	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.03608	-0.345	0.80722	D	1	B	0.30193	0.272	B	0.33568	0.166	T	0.27365	-1.0076	9	.	.	.	-21.7113	9.728	0.40344	0.2801:0.0873:0.547:0.0856	.	330	Q16798	MAON_HUMAN	Q	330	ENSP00000352657:H330Q;ENSP00000440246:H330Q;ENSP00000376998:H330Q;ENSP00000431182:H330Q	.	H	-	3	2	ME3	85839018	0.085000	0.21516	0.714000	0.30535	0.837000	0.47467	-0.478000	0.06575	-1.600000	0.01603	-0.793000	0.03317	CAC	ME3	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000151376		0.498	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME3	HGNC	protein_coding	OTTHUMT00000393767.2	230	0.00	0	G			86161370	86161370	-1	no_errors	ENST00000359636	ensembl	human	known	69_37n	missense	173	11.68	23	SNP	0.602	T
MECOM	2122	genome.wustl.edu	37	3	168833780	168833780	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:168833780T>G	ENST00000464456.1	-	7	2516	c.1316A>C	c.(1315-1317)cAg>cCg	p.Q439P	MECOM_ENST00000468789.1_Missense_Mutation_p.Q439P|MECOM_ENST00000433243.2_Missense_Mutation_p.Q440P|MECOM_ENST00000460814.1_Missense_Mutation_p.Q439P|MECOM_ENST00000264674.3_Missense_Mutation_p.Q504P|MECOM_ENST00000494292.1_Missense_Mutation_p.Q627P|MECOM_ENST00000472280.1_Missense_Mutation_p.Q440P|MECOM_ENST00000392736.3_Missense_Mutation_p.Q439P	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGCCAGATTCTGAAGAGGGCT	0.373																																						dbGAP											0													224.0	210.0	215.0					3																	168833780		2203	4300	6503	-	-	-	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1316A>C	3.37:g.168833780T>G	ENSP00000419770:p.Gln439Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.Q627P	ENST00000464456.1	37	c.1880	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	T	3.421	-0.118170	0.06838	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.05717	3.45;3.45;3.41;3.55;3.4;3.45;3.41;3.55	5.83	3.4	0.38934	.	0.000000	0.64402	D	0.000004	T	0.05135	0.0137	N	0.08118	0	0.40962	D	0.984633	P;B;B;B;B	0.47302	0.893;0.005;0.003;0.005;0.003	P;B;B;B;B	0.45881	0.496;0.003;0.001;0.003;0.001	T	0.50923	-0.8770	10	0.40728	T	0.16	-4.0302	12.9556	0.58425	0.0:0.0:0.2553:0.7447	.	627;440;627;504;439	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	P	504;439;439;440;627;439;439;440	ENSP00000264674:Q504P;ENSP00000376493:Q439P;ENSP00000419770:Q439P;ENSP00000420048:Q440P;ENSP00000417899:Q627P;ENSP00000419995:Q439P;ENSP00000420466:Q439P;ENSP00000394302:Q440P	ENSP00000264674:Q504P	Q	-	2	0	MECOM	170316474	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.456000	0.53000	0.445000	0.26639	-0.313000	0.08912	CAG	MECOM	-	NULL	ENSG00000085276		0.373	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	864	0.00	0	T	NM_005241, NM_004991		168833780	168833780	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	missense	621	27.02	231	SNP	1.000	G
MECOM	2122	genome.wustl.edu	37	3	168838897	168838897	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:168838897G>A	ENST00000464456.1	-	6	1715	c.515C>T	c.(514-516)tCg>tTg	p.S172L	MECOM_ENST00000468789.1_Missense_Mutation_p.S172L|MECOM_ENST00000433243.2_Missense_Mutation_p.S173L|MECOM_ENST00000460814.1_Missense_Mutation_p.S172L|MECOM_ENST00000264674.3_Missense_Mutation_p.S237L|MECOM_ENST00000494292.1_Missense_Mutation_p.S360L|MECOM_ENST00000472280.1_Missense_Mutation_p.S173L|MECOM_ENST00000392736.3_Missense_Mutation_p.S172L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S172L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAGGCCCGACGAAGTGGCAAA	0.552																																						dbGAP											1	Substitution - Missense(1)	skin(1)											182.0	163.0	169.0					3																	168838897		2203	4300	6503	-	-	-	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.515C>T	3.37:g.168838897G>A	ENSP00000419770:p.Ser172Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S360L	ENST00000464456.1	37	c.1079	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730547	0.89390	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.52057	2.98;0.68;0.68;2.44;0.68;0.68;0.68;2.44;0.68	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.119263	0.38272	N	0.001744	T	0.65037	0.2653	L	0.48218	1.51	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.981;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.996;0.759;0.998;0.996;0.998	T	0.65389	-0.6180	10	0.62326	D	0.03	-5.1617	19.5168	0.95168	0.0:0.0:1.0:0.0	.	360;173;360;237;172	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	237;172;172;173;360;172;172;173;147	ENSP00000264674:S237L;ENSP00000376493:S172L;ENSP00000419770:S172L;ENSP00000420048:S173L;ENSP00000417899:S360L;ENSP00000419995:S172L;ENSP00000420466:S172L;ENSP00000394302:S173L;ENSP00000417506:S147L	ENSP00000264674:S237L	S	-	2	0	MECOM	170321591	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	9.476000	0.97823	2.609000	0.88269	0.561000	0.74099	TCG	MECOM	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085276		0.552	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	271	0.00	0	G	NM_005241, NM_004991		168838897	168838897	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	missense	183	14.02	30	SNP	1.000	A
MED12	9968	genome.wustl.edu	37	X	70339208	70339208	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70339208G>A	ENST00000374080.3	+	2	131				MED12_ENST00000333646.6_Intron|MED12_ENST00000374102.1_Intron			Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACTAAACGCCGCTTTCCTGCC	0.522			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													25.0	22.0	23.0					X																	70339208		1878	4085	5963	-	-	-	SO:0001627	intron_variant	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.100-15G>A	X.37:g.70339208G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12	p.P13	ENST00000374080.3	37	c.39	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.522	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	154	0.00	0	G	NM_005120		70339208	70339208	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000429213	ensembl	human	known	69_37n	silent	86	11.34	11	SNP	0.000	A
MED12L	116931	genome.wustl.edu	37	3	150883693	150883693	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:150883693G>A	ENST00000474524.1	+	10	1456	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	MED12L_ENST00000273432.4_Missense_Mutation_p.R333Q|MED12L_ENST00000422248.2_Missense_Mutation_p.R473Q|MED12L_ENST00000309237.4_Missense_Mutation_p.R473Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	473						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTTTGACCGAACTGATTCC	0.368																																						dbGAP											0													148.0	141.0	143.0					3																	150883693		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1418G>A	3.37:g.150883693G>A	ENSP00000417235:p.Arg473Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.R473Q	ENST00000474524.1	37	c.1418	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045725	0.93685	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.69	5.69	0.88448	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.059629	0.64402	D	0.000003	T	0.63616	0.2526	M	0.80982	2.52	0.43453	D	0.995643	D;D;P;P	0.71674	0.998;0.981;0.953;0.802	D;P;B;B	0.65323	0.934;0.622;0.272;0.182	T	0.67753	-0.5589	10	0.87932	D	0	-13.0396	12.7207	0.57140	0.0757:0.0:0.9243:0.0	.	333;473;473;473	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	Q	473;473;473;333	ENSP00000403308:R473Q;ENSP00000310760:R473Q;ENSP00000417235:R473Q;ENSP00000273432:R333Q	ENSP00000273432:R333Q	R	+	2	0	MED12L	152366383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.521000	0.67086	2.676000	0.91093	0.655000	0.94253	CGA	MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.368	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	433	0.46	2	G	NM_053002		150883693	150883693	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	missense	291	24.02	92	SNP	1.000	A
MED13	9969	genome.wustl.edu	37	17	60142516	60142516	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:60142516A>G	ENST00000397786.2	-	1	127	c.51T>C	c.(49-51)tgT>tgC	p.C17C		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	17					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGGTTACAGTGACAAT	0.716																																						dbGAP											0													7.0	10.0	9.0					17																	60142516		1933	4134	6067	-	-	-	SO:0001819	synonymous_variant	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.51T>C	17.37:g.60142516A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU05|O60334	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.C17	ENST00000397786.2	37	c.51	CCDS42366.1	17																																																																																			MED13	-	pfam_Mediator_Med13_N_met/fun	ENSG00000108510		0.716	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	19	0.00	0	A	NM_005121		60142516	60142516	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	silent	3	62.50	5	SNP	1.000	G
MED13L	23389	genome.wustl.edu	37	12	116401285	116401285	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:116401285C>T	ENST00000281928.3	-	30	6633	c.6427G>A	c.(6427-6429)Gaa>Aaa	p.E2143K	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2143						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)		GGCAGAAGTTCGTCTGTCTGT	0.483																																						dbGAP											0													129.0	108.0	115.0					12																	116401285		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.6427G>A	12.37:g.116401285C>T	ENSP00000281928:p.Glu2143Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E2143K	ENST00000281928.3	37	c.6427	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.313501	0.97467	.	.	ENSG00000123066	ENST00000281928	T	0.78246	-1.16	6.17	6.17	0.99709	.	0.047480	0.85682	D	0.000000	D	0.86560	0.5962	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	P	0.57720	0.826	D	0.86350	0.1710	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2143	Q71F56	MD13L_HUMAN	K	2143	ENSP00000281928:E2143K	ENSP00000281928:E2143K	E	-	1	0	MED13L	114885668	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA	MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.483	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	299	0.33	1	C			116401285	116401285	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	163	20.77	43	SNP	1.000	T
MED14	9282	genome.wustl.edu	37	X	40562738	40562738	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:40562738C>A	ENST00000324817.1	-	11	1487	c.1369G>T	c.(1369-1371)Gat>Tat	p.D457Y		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	457	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATGTAAATCTACAAAAATG	0.338																																						dbGAP											0													53.0	47.0	49.0					X																	40562738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1369G>T	X.37:g.40562738C>A	ENSP00000323720:p.Asp457Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.D457Y	ENST00000324817.1	37	c.1369	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563284	0.86335	.	.	ENSG00000180182	ENST00000324817	T	0.45276	0.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67917	-0.5546	10	0.87932	D	0	.	18.6536	0.91440	0.0:1.0:0.0:0.0	.	457	O60244	MED14_HUMAN	Y	457	ENSP00000323720:D457Y	ENSP00000323720:D457Y	D	-	1	0	MED14	40447682	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.487000	0.81328	2.349000	0.79799	0.594000	0.82650	GAT	MED14	-	NULL	ENSG00000180182		0.338	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	175	0.00	0	C	NM_004229		40562738	40562738	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	87	26.89	32	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40570494	40570494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:40570494G>A	ENST00000324817.1	-	8	1067	c.949C>T	c.(949-951)Cga>Tga	p.R317*		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	317	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACCGTTCTCGGATTAACATT	0.393																																						dbGAP											0													108.0	86.0	94.0					X																	40570494		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.949C>T	X.37:g.40570494G>A	ENSP00000323720:p.Arg317*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Nonsense_Mutation	SNP	pfam_Mediator_Med14	p.R317*	ENST00000324817.1	37	c.949	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.330659	0.98217	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6259	0.62163	0.0:0.0:0.8454:0.1546	.	.	.	.	X	317	.	ENSP00000323720:R317X	R	-	1	2	MED14	40455438	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.865000	0.56033	2.356000	0.79943	0.600000	0.82982	CGA	MED14	-	NULL	ENSG00000180182		0.393	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	345	0.00	0	G	NM_004229		40570494	40570494	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	nonsense	264	12.00	36	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40586058	40586058	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:40586058G>A	ENST00000324817.1	-	3	406	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	96					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATAATCGAACGAAGAGTTGGC	0.318																																						dbGAP											0													52.0	48.0	49.0					X																	40586058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.288C>T	X.37:g.40586058G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Silent	SNP	pfam_Mediator_Med14	p.F96	ENST00000324817.1	37	c.288	CCDS14254.1	X																																																																																			MED14	-	pfam_Mediator_Med14	ENSG00000180182		0.318	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	228	0.87	2	G	NM_004229		40586058	40586058	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	silent	133	28.11	52	SNP	1.000	A
MEGF8	1954	genome.wustl.edu	37	19	42852444	42852444	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:42852444G>A	ENST00000251268.6	+	13	2118	c.2118G>A	c.(2116-2118)acG>acA	p.T706T	MEGF8_ENST00000334370.4_Intron	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	706					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCGCAGCACGACCATCACCC	0.577																																						dbGAP											0													134.0	129.0	131.0					19																	42852444		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2118G>A	19.37:g.42852444G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY0|O75097	Silent	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.T706	ENST00000251268.6	37	c.2118		19																																																																																			MEGF8	-	NULL	ENSG00000105429		0.577	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	206	0.00	0	G	NM_001410		42852444	42852444	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	silent	122	13.38	19	SNP	0.979	A
MEGF9	1955	genome.wustl.edu	37	9	123370046	123370046	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:123370046C>T	ENST00000373930.3	-	5	1441	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	MEGF9_ENST00000426959.1_Missense_Mutation_p.D481N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	444	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCCTCGAGGTCGTGAACATAA	0.403																																						dbGAP											0													167.0	161.0	163.0					9																	123370046		1901	4107	6008	-	-	-	SO:0001583	missense	0			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1330G>A	9.37:g.123370046C>T	ENSP00000363040:p.Asp444Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z315|O75098	Missense_Mutation	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	p.D481N	ENST00000373930.3	37	c.1441	CCDS48010.2	9	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427943	0.83667	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.63913	-0.07;-0.07	5.37	5.37	0.77165	.	0.048736	0.85682	D	0.000000	T	0.69424	0.3109	L	0.41079	1.255	0.52099	D	0.999947	D	0.89917	1.0	D	0.70227	0.968	T	0.64462	-0.6402	10	0.27785	T	0.31	-17.5045	14.1728	0.65522	0.0:0.8508:0.1492:0.0	.	481	C9J1K8	.	N	444;481	ENSP00000363040:D444N;ENSP00000392666:D481N	ENSP00000363040:D444N	D	-	1	0	MEGF9	122409867	0.982000	0.34865	1.000000	0.80357	0.996000	0.88848	2.123000	0.41996	2.697000	0.92050	0.655000	0.94253	GAC	MEGF9	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000106780		0.403	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	247	0.00	0	C	NM_001080497		123370046	123370046	-1	no_errors	ENST00000426959	ensembl	human	known	69_37n	missense	227	12.98	34	SNP	1.000	T
MEI1	150365	genome.wustl.edu	37	22	42128318	42128318	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:42128318G>A	ENST00000401548.3	+	10	1206	c.1166G>A	c.(1165-1167)gGc>gAc	p.G389D	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Missense_Mutation_p.G129D	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CACAAGCAGGGCCTGCTGCTT	0.557																																						dbGAP											0													62.0	68.0	66.0					22																	42128318		2071	4205	6276	-	-	-	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1166G>A	22.37:g.42128318G>A	ENSP00000384115:p.Gly389Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G389D	ENST00000401548.3	37	c.1166	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915725	0.73098	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.04809	3.55;3.55	5.74	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.055734	0.64402	D	0.000001	T	0.18551	0.0445	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.00294	-1.1840	10	0.72032	D	0.01	-3.7566	14.0083	0.64478	0.0:0.0:0.8483:0.1517	.	389;389	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	D	389;129	ENSP00000384115:G389D;ENSP00000444225:G129D	ENSP00000384115:G389D	G	+	2	0	MEI1	40458264	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	5.025000	0.64097	1.397000	0.46682	0.563000	0.77884	GGC	MEI1	-	superfamily_ARM-type_fold	ENSG00000167077		0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	254	0.00	0	G	NM_152513		42128318	42128318	+1	no_errors	ENST00000401548	ensembl	human	known	69_37n	missense	226	25.41	78	SNP	1.000	A
MEIS1	4211	genome.wustl.edu	37	2	66665076	66665076	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:66665076G>T	ENST00000272369.9	+	2	677	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	MEIS1_ENST00000444274.2_Missense_Mutation_p.D42Y|MEIS1_ENST00000398506.2_Missense_Mutation_p.D72Y|MEIS1_ENST00000488550.1_Missense_Mutation_p.D74Y|MEIS1_ENST00000560281.2_Missense_Mutation_p.D74Y|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000495021.2_5'Flank|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000407092.2_Missense_Mutation_p.D74Y	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	74					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TTTAAAGAGAGATAAAGATGC	0.522																																						dbGAP											0													36.0	38.0	37.0					2																	66665076		2042	4193	6235	-	-	-	SO:0001583	missense	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.220G>T	2.37:g.66665076G>T	ENSP00000272369:p.Asp74Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV50	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.D74Y	ENST00000272369.9	37	c.220	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635258	0.87760	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.968;1.0	T	0.57046	-0.7878	10	0.87932	D	0	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	72;74;74	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	Y	74;74;72;42	ENSP00000272369:D74Y;ENSP00000384461:D74Y;ENSP00000381518:D72Y;ENSP00000403206:D42Y	ENSP00000272369:D74Y	D	+	1	0	MEIS1	66518580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.793000	0.96121	0.655000	0.94253	GAT	MEIS1	-	NULL	ENSG00000143995		0.522	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	116	0.00	0	G	NM_002398		66665076	66665076	+1	no_errors	ENST00000407092	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	1.000	T
MEIS2	4212	genome.wustl.edu	37	15	37388588	37388588	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:37388588C>T	ENST00000561208.1	-	3	707	c.289G>A	c.(289-291)Gag>Aag	p.E97K	MEIS2_ENST00000397624.3_Missense_Mutation_p.E9K|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559561.1_Missense_Mutation_p.E97K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E9K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E97K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E97K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E84K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E97K|MEIS2_ENST00000219869.9_Intron|MEIS2_ENST00000340545.5_Missense_Mutation_p.E84K|MEIS2_ENST00000338564.5_Missense_Mutation_p.E97K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E84K			O14770	MEIS2_HUMAN	Meis homeobox 2	97	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GTCGCCAGCTCGCACTTCTCA	0.622																																						dbGAP											0													55.0	54.0	55.0					15																	37388588		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.289G>A	15.37:g.37388588C>T	ENSP00000453793:p.Glu97Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E97K	ENST00000561208.1	37	c.289	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.036716	0.97226	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;0.999;1.0;0.998;1.0;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.917;0.949;0.985;0.962;0.998;0.993;0.95	T	0.69639	-0.5091	10	0.87932	D	0	-3.183	19.7051	0.96069	0.0:1.0:0.0:0.0	.	84;97;97;97;97;9;84	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.	K	97;97;97;97;97;84;84;9	ENSP00000326296:E97K;ENSP00000341400:E97K;ENSP00000372216:E97K;ENSP00000404185:E97K;ENSP00000391887:E97K;ENSP00000339549:E84K;ENSP00000380745:E9K	ENSP00000326296:E97K	E	-	1	0	MEIS2	35175880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.790000	0.85794	2.647000	0.89833	0.650000	0.86243	GAG	MEIS2	-	NULL	ENSG00000134138		0.622	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	110	0.00	0	C	NM_170677		37388588	37388588	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	missense	61	31.46	28	SNP	1.000	T
MEIS2	4212	genome.wustl.edu	37	15	37390322	37390322	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:37390322G>A	ENST00000561208.1	-	2	509	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	MEIS2_ENST00000397624.3_5'UTR|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000559561.1_Missense_Mutation_p.R31W|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.R31W|MEIS2_ENST00000382766.2_Missense_Mutation_p.R31W|MEIS2_ENST00000557796.2_Missense_Mutation_p.R18W|MEIS2_ENST00000424352.2_Missense_Mutation_p.R31W|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000340545.5_Missense_Mutation_p.R18W|MEIS2_ENST00000338564.5_Missense_Mutation_p.R31W|MEIS2_ENST00000559085.1_Missense_Mutation_p.R18W			O14770	MEIS2_HUMAN	Meis homeobox 2	31					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGATCGGCCGCGGCGCGTGA	0.692																																						dbGAP											0													30.0	35.0	33.0					15																	37390322		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.91C>T	15.37:g.37390322G>A	ENSP00000453793:p.Arg31Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R31W	ENST00000561208.1	37	c.91	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862849	0.91511	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.48	5.3	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	P;D;D;D;D;D	0.91635	0.902;0.997;0.999;0.944;0.971;0.952	T	0.59894	-0.7368	10	0.72032	D	0.01	-1.6922	13.515	0.61535	0.0:0.0:0.7167:0.2832	.	18;31;31;31;31;18	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	W	31;31;31;31;31;18;18	ENSP00000326296:R31W;ENSP00000341400:R31W;ENSP00000372216:R31W;ENSP00000404185:R31W;ENSP00000391887:R31W;ENSP00000339549:R18W	ENSP00000326296:R31W	R	-	1	2	MEIS2	35177614	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.225000	0.65294	1.199000	0.43173	0.655000	0.94253	CGG	MEIS2	-	NULL	ENSG00000134138		0.692	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	50	0.00	0	G	NM_170677		37390322	37390322	-1	no_errors	ENST00000561208	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	A
MEIS3	56917	genome.wustl.edu	37	19	47918354	47918354	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:47918354A>G	ENST00000558555.1	-	5	588	c.401T>C	c.(400-402)aTc>aCc	p.I134T	MEIS3_ENST00000559524.1_Missense_Mutation_p.I134T|MEIS3_ENST00000561096.1_Missense_Mutation_p.I222T|MEIS3_ENST00000441740.2_Missense_Mutation_p.I134T|MEIS3_ENST00000331559.5_Missense_Mutation_p.I134T|MEIS3_ENST00000561293.1_Missense_Mutation_p.I134T|MEIS3_ENST00000560253.1_5'Flank			Q99687	MEIS3_HUMAN	Meis homeobox 3	134					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GATGGCCTGGATCATCTGAAA	0.617																																						dbGAP											0													24.0	20.0	21.0					19																	47918354		2184	4268	6452	-	-	-	SO:0001583	missense	0			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.401T>C	19.37:g.47918354A>G	ENSP00000454073:p.Ile134Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I134T	ENST00000558555.1	37	c.401		19	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210739	0.58343	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.29917	1.55;1.55	3.84	3.84	0.44239	.	0.067869	0.56097	D	0.000031	T	0.38772	0.1053	M	0.72894	2.215	0.42758	D	0.993793	B;P;B;P	0.42692	0.03;0.531;0.342;0.787	B;P;B;B	0.45794	0.014;0.493;0.217;0.273	T	0.43130	-0.9410	10	0.87932	D	0	-14.2738	10.9691	0.47428	1.0:0.0:0.0:0.0	.	43;134;134;134	Q8TCW1;Q99687;Q99687-3;Q99687-2	.;MEIS3_HUMAN;.;.	T	134	ENSP00000333552:I134T;ENSP00000388667:I134T	ENSP00000333552:I134T	I	-	2	0	MEIS3	52610166	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.022000	0.93678	1.749000	0.51849	0.397000	0.26171	ATC	MEIS3	-	NULL	ENSG00000105419		0.617	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	48	0.00	0	A	XM_085929		47918354	47918354	-1	no_errors	ENST00000559524	ensembl	human	known	69_37n	missense	29	16.67	6	SNP	1.000	G
MELK	9833	genome.wustl.edu	37	9	36643024	36643024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:36643024G>T	ENST00000298048.2	+	11	1049	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	MELK_ENST00000541717.1_Nonsense_Mutation_p.E289*|MELK_ENST00000538311.1_Nonsense_Mutation_p.E95*|MELK_ENST00000536860.1_Nonsense_Mutation_p.E241*|MELK_ENST00000536329.1_Nonsense_Mutation_p.E218*|MELK_ENST00000543751.1_Nonsense_Mutation_p.E257*|MELK_ENST00000536987.1_Nonsense_Mutation_p.E158*|MELK_ENST00000545008.1_Nonsense_Mutation_p.E218*	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	289	UBA-like.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.E289*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTGCGTAACAGAACTTTCTGT	0.338																																					Ovarian(82;980 1317 7225 14391 18624)	dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											92.0	86.0	88.0					9																	36643024		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.865G>T	9.37:g.36643024G>T	ENSP00000298048:p.Glu289*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E289*	ENST00000298048.2	37	c.865	CCDS6606.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.597968	0.97692	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	.	.	.	5.46	5.46	0.80206	.	0.045972	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.8187	18.0769	0.89430	0.0:0.0:1.0:0.0	.	.	.	.	X	289;95;158;218;241;218;289;257	.	ENSP00000298048:E289X	E	+	1	0	MELK	36633024	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.262000	0.72514	2.568000	0.86640	0.650000	0.86243	GAA	MELK	-	superfamily_Kinase-like_dom	ENSG00000165304		0.338	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MELK	HGNC	protein_coding	OTTHUMT00000052428.3	131	0.00	0	G	NM_014791		36643024	36643024	+1	no_errors	ENST00000298048	ensembl	human	known	69_37n	nonsense	109	20.44	28	SNP	1.000	T
MEMO1	51072	genome.wustl.edu	37	2	32145882	32145882	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:32145882G>A	ENST00000295065.5	-	4	619	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.R81C|MEMO1_ENST00000404530.1_Missense_Mutation_p.R104C|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.R107C|AL121652.1_ENST00000408399.1_RNA	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	104					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TGGTCAATACGAAGGTCATAC	0.348																																						dbGAP											0													82.0	89.0	86.0					2																	32145882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.310C>T	2.37:g.32145882G>A	ENSP00000295065:p.Arg104Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	pfam_UPF0103/Memo-related	p.R107C	ENST00000295065.5	37	c.319	CCDS1776.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146013	0.77888	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.75	5.75	0.90469	.	0.048331	0.85682	D	0.000000	T	0.72495	0.3467	M	0.66939	2.045	0.80722	D	1	B;P	0.40970	0.014;0.734	B;P	0.48795	0.013;0.59	T	0.73202	-0.4057	9	0.59425	D	0.04	-3.2664	19.5476	0.95305	0.0:0.0:1.0:0.0	.	81;104	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	C	104;107;104;81	.	ENSP00000295065:R104C	R	-	1	0	MEMO1	31999386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.824000	0.75288	2.719000	0.93026	0.655000	0.94253	CGT	MEMO1	-	pfam_UPF0103/Memo-related	ENSG00000162959		0.348	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	HGNC	protein_coding	OTTHUMT00000250251.2	242	0.00	0	G	NM_015955		32145882	32145882	-1	no_errors	ENST00000379383	ensembl	human	known	69_37n	missense	202	11.79	27	SNP	1.000	A
MEP1A	4224	genome.wustl.edu	37	6	46793148	46793148	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46793148C>A	ENST00000230588.4	+	8	705	c.696C>A	c.(694-696)atC>atA	p.I232I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	232	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGCCAAGATCCCTGAGTTTA	0.433																																						dbGAP											0													164.0	143.0	150.0					6																	46793148		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.696C>A	6.37:g.46793148C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.I232	ENST00000230588.4	37	c.696	CCDS4918.1	6																																																																																			MEP1A	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A	ENSG00000112818		0.433	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	226	0.00	0	C	NM_005588		46793148	46793148	+1	no_errors	ENST00000230588	ensembl	human	known	69_37n	silent	130	18.75	30	SNP	1.000	A
MEP1B	4225	genome.wustl.edu	37	18	29795179	29795179	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:29795179G>T	ENST00000269202.6	+	12	1761	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	MEP1B_ENST00000581447.1_Missense_Mutation_p.D572Y	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	572	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAAAGCAGAGATTTTATAAA	0.378																																						dbGAP											0													77.0	76.0	77.0					18																	29795179		1833	4082	5915	-	-	-	SO:0001583	missense	0			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1714G>T	18.37:g.29795179G>T	ENSP00000269202:p.Asp572Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.D572Y	ENST00000269202.6	37	c.1714	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322395	0.41096	.	.	ENSG00000141434	ENST00000269202	T	0.37915	1.17	5.97	5.1	0.69264	TRAF-type (1);TRAF-like (1);MATH (2);	0.238735	0.49305	N	0.000143	T	0.36799	0.0980	L	0.60455	1.87	0.42879	D	0.994166	P	0.35192	0.489	B	0.34824	0.19	T	0.33369	-0.9871	10	0.72032	D	0.01	-12.9813	13.0211	0.58787	0.1335:0.0:0.8665:0.0	.	572	Q16820	MEP1B_HUMAN	Y	572	ENSP00000269202:D572Y	ENSP00000269202:D572Y	D	+	1	0	MEP1B	28049177	1.000000	0.71417	0.996000	0.52242	0.866000	0.49608	3.566000	0.53805	1.540000	0.49301	-0.136000	0.14681	GAT	MEP1B	-	pirsf_Pept_M12A_Meprin,pfam_MATH,superfamily_TRAF-like,pfscan_MATH	ENSG00000141434		0.378	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	463	0.00	0	G	NM_005925		29795179	29795179	+1	no_errors	ENST00000269202	ensembl	human	known	69_37n	missense	263	13.49	41	SNP	1.000	T
MEPE	56955	genome.wustl.edu	37	4	88766593	88766593	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:88766593G>A	ENST00000424957.3	+	4	646	c.573G>A	c.(571-573)tcG>tcA	p.S191S	MEPE_ENST00000540395.1_Silent_p.S78S|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Silent_p.S78S|MEPE_ENST00000395102.4_Silent_p.S222S|MEPE_ENST00000361056.3_Silent_p.S191S|MEPE_ENST00000497649.2_Silent_p.S167S	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	191					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGCACACTCGAAGGATAAAA	0.398																																						dbGAP											0													75.0	82.0	79.0					4																	88766593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.573G>A	4.37:g.88766593G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	pfam_Osteoregulin	p.S191	ENST00000424957.3	37	c.573	CCDS3625.1	4																																																																																			MEPE	-	pfam_Osteoregulin	ENSG00000152595		0.398	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	87	0.00	0	G			88766593	88766593	+1	no_errors	ENST00000361056	ensembl	human	known	69_37n	silent	81	11.96	11	SNP	0.000	A
MERTK	10461	genome.wustl.edu	37	2	112705105	112705105	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:112705105G>A	ENST00000295408.4	+	4	975	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	MERTK_ENST00000421804.2_Missense_Mutation_p.E240K|MERTK_ENST00000409780.1_Missense_Mutation_p.E64K			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	240	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCGTGTTAACGAACAGCCTGA	0.493																																						dbGAP											0													60.0	62.0	61.0					2																	112705105		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.718G>A	2.37:g.112705105G>A	ENSP00000295408:p.Glu240Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E240K	ENST00000295408.4	37	c.718	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	7.682	0.689224	0.14973	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.12361	2.69;2.69;2.69	5.24	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.229780	0.22104	U	0.064562	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.40608	-0.9554	10	0.07813	T	0.8	-11.4089	5.765	0.18221	0.3717:0.0:0.6283:0.0	.	240	Q12866	MERTK_HUMAN	K	240;240;64	ENSP00000295408:E240K;ENSP00000389152:E240K;ENSP00000387277:E64K	ENSP00000295408:E240K	E	+	1	0	MERTK	112421576	0.002000	0.14202	0.009000	0.14445	0.072000	0.16883	0.815000	0.27253	1.348000	0.45733	-0.137000	0.14449	GAA	MERTK	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000153208		0.493	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	108	0.00	0	G			112705105	112705105	+1	no_errors	ENST00000295408	ensembl	human	known	69_37n	missense	77	16.30	15	SNP	0.004	A
MET	4233	genome.wustl.edu	37	7	116418932	116418932	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:116418932G>A	ENST00000318493.6	+	17	3684	c.3497G>A	c.(3496-3498)cGa>cAa	p.R1166Q	MET_ENST00000539704.1_Missense_Mutation_p.R18Q|MET_ENST00000397752.3_Missense_Mutation_p.R1148Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R1166Q(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCTGCCTGCGAAGTGAAGGG	0.448			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	ovary(1)	GRCh37	CM068008	MET	M							114.0	115.0	115.0					7																	116418932		1912	4139	6051	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3497G>A	7.37:g.116418932G>A	ENSP00000317272:p.Arg1166Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.R1166Q	ENST00000318493.6	37	c.3497	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126412	0.56721	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.34072	1.38;1.38;1.38	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.055398	0.64402	D	0.000001	T	0.25606	0.0623	N	0.11064	0.09	0.38497	D	0.948135	B;D	0.56287	0.439;0.975	B;P	0.45343	0.029;0.477	T	0.10753	-1.0616	10	0.48119	T	0.1	.	14.265	0.66110	0.0:0.2639:0.7361:0.0	.	1166;1148	P08581-2;P08581	.;MET_HUMAN	Q	1148;1166;18	ENSP00000380860:R1148Q;ENSP00000317272:R1166Q;ENSP00000445020:R18Q	ENSP00000317272:R1166Q	R	+	2	0	MET	116206168	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.828000	0.75308	2.746000	0.94184	0.655000	0.94253	CGA	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105976		0.448	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	300	0.00	0	G			116418932	116418932	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	missense	202	12.77	30	SNP	1.000	A
METAP1	23173	genome.wustl.edu	37	4	99960603	99960603	+	Missense_Mutation	SNP	G	G	A	rs547674574		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:99960603G>A	ENST00000296411.6	+	5	553	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	METAP1_ENST00000544031.1_Missense_Mutation_p.R90Q	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	140					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		GAAGGGATGCGACTTGTATGT	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16913	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													139.0	131.0	133.0					4																	99960603		1825	4088	5913	-	-	-	SO:0001583	missense	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.419G>A	4.37:g.99960603G>A	ENSP00000296411:p.Arg140Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2E6	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.R140Q	ENST00000296411.6	37	c.419	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.263770	0.95399	.	.	ENSG00000164024	ENST00000296411;ENST00000544031	D;D	0.82526	-1.62;-1.62	4.94	4.94	0.65067	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	M	0.93106	3.38	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	D	0.94437	0.7655	9	.	.	.	-10.3199	18.3537	0.90348	0.0:0.0:1.0:0.0	.	140	P53582	AMPM1_HUMAN	Q	140;90	ENSP00000296411:R140Q;ENSP00000440993:R90Q	.	R	+	2	0	METAP1	100179626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.732000	0.91534	2.574000	0.86865	0.650000	0.86243	CGA	METAP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1	ENSG00000164024		0.368	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	444	0.00	0	G	NM_015143		99960603	99960603	+1	no_errors	ENST00000296411	ensembl	human	known	69_37n	missense	213	18.32	48	SNP	1.000	A
METAP1	23173	genome.wustl.edu	37	4	99969961	99969961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:99969961C>T	ENST00000296411.6	+	9	999	c.865C>T	c.(865-867)Cga>Tga	p.R289*	METAP1_ENST00000544031.1_Nonsense_Mutation_p.R239*	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	289					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TTCAGTTGTTCGAAGCTATTG	0.418																																						dbGAP											0													186.0	179.0	181.0					4																	99969961		1880	4098	5978	-	-	-	SO:0001587	stop_gained	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.865C>T	4.37:g.99969961C>T	ENSP00000296411:p.Arg289*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2E6	Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.R289*	ENST00000296411.6	37	c.865	CCDS47110.1	4	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830175	0.91036	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133	.	.	.	4.4	1.55	0.23275	.	0.071854	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.6189	7.8703	0.29563	0.287:0.6366:0.0:0.0764	.	.	.	.	X	289;239;73	.	.	R	+	1	2	METAP1	100188984	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.684000	0.54671	0.176000	0.19873	-0.225000	0.12378	CGA	METAP1	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	ENSG00000164024		0.418	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1	HGNC	protein_coding	OTTHUMT00000364237.1	384	0.00	0	C	NM_015143		99969961	99969961	+1	no_errors	ENST00000296411	ensembl	human	known	69_37n	nonsense	250	13.99	41	SNP	1.000	T
METAP1D	254042	genome.wustl.edu	37	2	172926305	172926305	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:172926305C>A	ENST00000315796.4	+	2	507	c.120C>A	c.(118-120)ttC>ttA	p.F40L	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	40					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GAAGAAATTTCTTTTTTCGGA	0.388																																						dbGAP											0													198.0	218.0	211.0					2																	172926305		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.120C>A	2.37:g.172926305C>A	ENSP00000315152:p.Phe40Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1WNX3	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.F40L	ENST00000315796.4	37	c.120	CCDS2246.1	2	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965003	0.18583	.	.	ENSG00000172878	ENST00000315796	T	0.40225	1.04	5.92	5.04	0.67666	.	0.348630	0.38111	N	0.001816	T	0.36552	0.0971	L	0.52759	1.655	0.53688	D	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.11485	T	0.65	-7.5368	15.0866	0.72158	0.0:0.9323:0.0:0.0677	.	40	Q6UB28	AMP1D_HUMAN	L	40	ENSP00000315152:F40L	ENSP00000315152:F40L	F	+	3	2	METAP1D	172634551	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	3.320000	0.51991	1.521000	0.48983	-0.373000	0.07131	TTC	METAP1D	-	NULL	ENSG00000172878		0.388	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	201	0.00	0	C	NM_199227		172926305	172926305	+1	no_errors	ENST00000315796	ensembl	human	known	69_37n	missense	97	27.61	37	SNP	1.000	A
METAP1D	254042	genome.wustl.edu	37	2	172945068	172945068	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:172945068C>T	ENST00000315796.4	+	10	1329	c.942C>T	c.(940-942)ttC>ttT	p.F314F	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	314					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CGGCGCAGTTCGAGCACACGG	0.647																																						dbGAP											0													113.0	113.0	113.0					2																	172945068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.942C>T	2.37:g.172945068C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1WNX3	Silent	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.F314	ENST00000315796.4	37	c.942	CCDS2246.1	2																																																																																			METAP1D	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1	ENSG00000172878		0.647	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	129	0.00	0	C	NM_199227		172945068	172945068	+1	no_errors	ENST00000315796	ensembl	human	known	69_37n	silent	71	32.71	35	SNP	1.000	T
METTL21B	25895	genome.wustl.edu	37	12	58174297	58174297	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:58174297A>C	ENST00000300209.8	+	3	674	c.549A>C	c.(547-549)agA>agC	p.R183S	RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000540550.1_5'Flank|TSFM_ENST00000548851.1_5'Flank|METTL21B_ENST00000551420.1_Missense_Mutation_p.R2S|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000333012.5_3'UTR|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000543727.1_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	183						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CCAAGATGAGAAAGGAGCATG	0.547																																						dbGAP											0													70.0	60.0	64.0					12																	58174297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.549A>C	12.37:g.58174297A>C	ENSP00000300209:p.Arg183Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.R183S	ENST00000300209.8	37	c.549	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714176	0.48622	.	.	ENSG00000123427	ENST00000551420;ENST00000300209	T	0.12879	2.64	5.2	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.09487	-1.0672	9	.	.	.	.	3.9905	0.09535	0.3758:0.3611:0.263:0.0	.	183	Q96AZ1	MT21B_HUMAN	S	2;183	ENSP00000300209:R183S	.	R	+	3	2	METTL21B	56460564	0.884000	0.30299	1.000000	0.80357	0.972000	0.66771	0.509000	0.22707	0.812000	0.34326	0.455000	0.32223	AGA	METTL21B	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000123427		0.547	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	HGNC	protein_coding	OTTHUMT00000409268.1	131	0.00	0	A	NM_015433		58174297	58174297	+1	no_errors	ENST00000300209	ensembl	human	known	69_37n	missense	124	10.14	14	SNP	0.994	C
METAP2	10988	genome.wustl.edu	37	12	95888734	95888734	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:95888734G>T	ENST00000323666.5	+	6	821	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	METAP2_ENST00000546753.1_Splice_Site_p.E175*|METAP2_ENST00000261220.9_Splice_Site_p.E175*|METAP2_ENST00000551840.1_Splice_Site_p.E197*|METAP2_ENST00000550777.1_Splice_Site_p.E162*	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						TTGTTTTAGTGAAAAGTTGGA	0.328																																						dbGAP											0													66.0	67.0	67.0					12																	95888734		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.591-1G>T	12.37:g.95888734G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2	p.E198*	ENST00000323666.5	37	c.592	CCDS9052.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421321	0.83559	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000553151;ENST00000550777;ENST00000551840;ENST00000549808	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.6695	19.4631	0.94927	0.0:0.0:1.0:0.0	.	.	.	.	X	198;175;175;174;162;197;100	.	ENSP00000261220:E175X	E	+	1	0	METAP2	94412865	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.421000	0.97455	2.594000	0.87642	0.585000	0.79938	GAA	METAP2	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP2	ENSG00000111142		0.328	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METAP2	HGNC	protein_coding	OTTHUMT00000408296.1	452	0.00	0	G	NM_006838	Nonsense_Mutation	95888734	95888734	+1	no_errors	ENST00000323666	ensembl	human	known	69_37n	nonsense	297	10.27	34	SNP	1.000	T
METTL21C	196541	genome.wustl.edu	37	13	103338653	103338653	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103338653C>T	ENST00000267273.6	-	4	528	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	175					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TTGTCCAGGTCTTCCCCCCAT	0.438																																						dbGAP											0													108.0	109.0	109.0					13																	103338653		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32003.1	13q33.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000139780	ENSG00000139780			33717	protein-coding gene	gene with protein product		615259	"""chromosome 13 open reading frame 39"""	C13orf39			Standard	NM_001010977		Approved	LOC196541	uc001vpj.4	Q5VZV1	OTTHUMG00000017304	ENST00000267273.6:c.523G>A	13.37:g.103338653C>T	ENSP00000267273:p.Asp175Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.D175N	ENST00000267273.6	37	c.523	CCDS32003.1	13	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201409	0.22121	.	.	ENSG00000139780	ENST00000267273	T	0.06449	3.3	5.68	3.91	0.45181	.	0.141712	0.64402	D	0.000007	T	0.08088	0.0202	L	0.59967	1.855	0.34808	D	0.737385	B	0.20459	0.045	B	0.18263	0.021	T	0.08785	-1.0705	10	0.35671	T	0.21	-12.9955	10.0091	0.41975	0.0:0.777:0.0:0.223	.	175	Q5VZV1	MT21C_HUMAN	N	175	ENSP00000267273:D175N	ENSP00000267273:D175N	D	-	1	0	METTL21C	102136654	0.833000	0.29383	0.621000	0.29145	0.062000	0.15995	1.530000	0.36007	0.720000	0.32209	0.650000	0.86243	GAC	METTL21C	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000139780		0.438	METTL21C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21C	HGNC	protein_coding	OTTHUMT00000045682.2	221	0.00	0	C	NM_001010977		103338653	103338653	-1	no_errors	ENST00000267273	ensembl	human	known	69_37n	missense	164	11.35	21	SNP	0.981	T
METTL23	124512	genome.wustl.edu	37	17	74729374	74729374	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:74729374G>A	ENST00000341249.6	+	4	654		c.e4-1		METTL23_ENST00000589977.1_Splice_Site|METTL23_ENST00000590964.1_Splice_Site|METTL23_ENST00000588302.1_Splice_Site|METTL23_ENST00000588822.1_Splice_Site|METTL23_ENST00000586752.1_Splice_Site|METTL23_ENST00000586200.1_Splice_Site|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_Splice_Site|METTL23_ENST00000591571.1_Splice_Site|METTL23_ENST00000586738.1_Splice_Site|MFSD11_ENST00000586622.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)			large_intestine(2)|lung(1)	3						TTTCTCCTCAGATTTTGAAGA	0.363																																						dbGAP											0													70.0	62.0	65.0					17																	74729374		1833	4084	5917	-	-	-	SO:0001630	splice_region_variant	0				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.323-1G>A	17.37:g.74729374G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	H9ZYJ0|K7EK32	Splice_Site	SNP	-	e3-1	ENST00000341249.6	37	c.323-1	CCDS45787.1	17	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727747	0.48833	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL23	72240969	1.000000	0.71417	0.993000	0.49108	0.216000	0.24613	9.241000	0.95402	2.941000	0.99782	0.655000	0.94253	.	METTL23	-	-	ENSG00000181038		0.363	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL23	HGNC	protein_coding	OTTHUMT00000451002.1	110	0.00	0	G	NM_001080510	Intron	74729374	74729374	+1	no_errors	ENST00000341249	ensembl	human	known	69_37n	splice_site	53	13.11	8	SNP	1.000	A
METTL25	84190	genome.wustl.edu	37	12	82752571	82752571	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:82752571C>T	ENST00000248306.3	+	1	296	c.227C>T	c.(226-228)aCg>aTg	p.T76M	CCDC59_ENST00000256151.7_5'Flank|CCDC59_ENST00000548126.1_5'Flank|METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	76							methyltransferase activity (GO:0008168)										CCCTCAGAGACGCGCCCCCTA	0.677											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													33.0	33.0	33.0					12																	82752571		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.227C>T	12.37:g.82752571C>T	ENSP00000248306:p.Thr76Met	Somatic	1216	WXS	Illumina GAIIx	Phase_IV	Q9H5Y3	Missense_Mutation	SNP	NULL	p.T76M	ENST00000248306.3	37	c.227	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194097	0.22037	.	.	ENSG00000127720	ENST00000248306;ENST00000548200	T	0.30448	1.53	5.4	2.34	0.29019	.	1.740560	0.02385	N	0.079138	T	0.22820	0.0551	L	0.34521	1.04	0.20489	N	0.999899	B	0.32893	0.389	B	0.24974	0.057	T	0.21724	-1.0237	10	0.46703	T	0.11	-0.0376	4.6708	0.12689	0.2044:0.5867:0.1214:0.0876	.	76	Q8N6Q8	CL026_HUMAN	M	76	ENSP00000248306:T76M	ENSP00000248306:T76M	T	+	2	0	C12orf26	81276702	0.019000	0.18553	0.867000	0.34043	0.118000	0.20060	0.085000	0.14912	1.269000	0.44280	0.650000	0.86243	ACG	METTL25	-	NULL	ENSG00000127720		0.677	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	35	0.00	0	C	NM_032230		82752571	82752571	+1	no_errors	ENST00000248306	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.288	T
METTL25	84190	genome.wustl.edu	37	12	82850527	82850527	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:82850527T>A	ENST00000248306.3	+	9	1569	c.1500T>A	c.(1498-1500)atT>atA	p.I500I	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	500							methyltransferase activity (GO:0008168)	p.I500M(1)									TTGGTAAAATTTATTCCAAAT	0.284																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											75.0	71.0	72.0					12																	82850527		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1500T>A	12.37:g.82850527T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Y3	Silent	SNP	NULL	p.I500	ENST00000248306.3	37	c.1500	CCDS9024.1	12																																																																																			METTL25	-	NULL	ENSG00000127720		0.284	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	345	0.00	0	T	NM_032230		82850527	82850527	+1	no_errors	ENST00000248306	ensembl	human	known	69_37n	silent	218	11.74	29	SNP	1.000	A
METTL2B	55798	genome.wustl.edu	37	7	128141829	128141829	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:128141829G>A	ENST00000262432.8	+	9	1033	c.996G>A	c.(994-996)acG>acA	p.T332T	METTL2B_ENST00000480046.1_Silent_p.T267T	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	332					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACTGGACACGCTTTTCACCA	0.453																																						dbGAP											0													66.0	71.0	69.0					7																	128141829		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.996G>A	7.37:g.128141829G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ68|Q0IJ54|Q3B7J1	Silent	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.T332	ENST00000262432.8	37	c.996	CCDS5803.2	7																																																																																			METTL2B	-	pirsf_MeTrfase_METTL2_prd	ENSG00000165055		0.453	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	199	0.00	0	G	NM_018396		128141829	128141829	+1	no_errors	ENST00000262432	ensembl	human	known	69_37n	silent	187	12.21	26	SNP	0.014	A
METTL7A	25840	genome.wustl.edu	37	12	51319318	51319318	+	Splice_Site	SNP	C	C	A	rs200225451		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:51319318C>A	ENST00000548553.1	+	2	1478	c.497C>A	c.(496-498)cCg>cAg	p.P166Q	METTL7A_ENST00000332160.4_Splice_Site_p.P166Q			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	166						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GTGCTGAGACCGGTGAGTGAA	0.517																																						dbGAP											0													30.0	28.0	29.0					12																	51319318		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.498+1C>A	12.37:g.51319318C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related	p.P166Q	ENST00000548553.1	37	c.497	CCDS8804.1	12	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089172	0.55968	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.35048	1.57;1.33;1.57	5.55	4.65	0.58169	Methyltransferase type 11 (1);	0.157156	0.64402	N	0.000019	T	0.62429	0.2427	M	0.92555	3.32	0.80722	D	1	P	0.44139	0.827	P	0.52627	0.704	T	0.73193	-0.4060	10	0.72032	D	0.01	0.0139	15.331	0.74212	0.1405:0.8595:0.0:0.0	.	166	Q9H8H3	MET7A_HUMAN	Q	166;166;166;97	ENSP00000448785:P166Q;ENSP00000450239:P166Q;ENSP00000331787:P166Q	ENSP00000331787:P166Q	P	+	2	0	METTL7A	49605585	0.948000	0.32251	1.000000	0.80357	0.488000	0.33401	1.326000	0.33735	1.484000	0.48361	0.591000	0.81541	CCG	METTL7A	-	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related	ENSG00000185432		0.517	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7A	HGNC	protein_coding	OTTHUMT00000404294.2	51	0.00	0	C	NM_014033	Missense_Mutation	51319318	51319318	+1	no_errors	ENST00000332160	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	1.000	A
MEX3B	84206	genome.wustl.edu	37	15	82335830	82335830	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:82335830G>A	ENST00000329713.4	-	2	1816	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	461					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGGTCGCTGCGCACCCGGCGA	0.741																																						dbGAP											0													9.0	11.0	10.0					15																	82335830		2049	3967	6016	-	-	-	SO:0001583	missense	0			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1381C>T	15.37:g.82335830G>A	ENSP00000329918:p.Arg461Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.R461C	ENST00000329713.4	37	c.1381	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145503	0.37825	.	.	ENSG00000183496	ENST00000329713	T	0.25414	1.8	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.17745	-1.0359	10	0.51188	T	0.08	-28.2436	11.7558	0.51874	0.0:0.0:0.8236:0.1764	.	461	Q6ZN04	MEX3B_HUMAN	C	461	ENSP00000329918:R461C	ENSP00000329918:R461C	R	-	1	0	MEX3B	80122885	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	3.443000	0.52907	2.440000	0.82611	0.561000	0.74099	CGC	MEX3B	-	NULL	ENSG00000183496		0.741	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	13	0.00	0	G	XM_290645		82335830	82335830	-1	no_errors	ENST00000329713	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	1.000	A
MEX3B	84206	genome.wustl.edu	37	15	82336030	82336030	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:82336030G>T	ENST00000329713.4	-	2	1616	c.1181C>A	c.(1180-1182)tCt>tAt	p.S394Y	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	394					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						agagcaggaagaagaTACCGG	0.652																																						dbGAP											0													69.0	73.0	72.0					15																	82336030		2199	4297	6496	-	-	-	SO:0001583	missense	0			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1181C>A	15.37:g.82336030G>T	ENSP00000329918:p.Ser394Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.S394Y	ENST00000329713.4	37	c.1181	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	G	4.552	0.102570	0.08731	.	.	ENSG00000183496	ENST00000329713	T	0.24538	1.85	4.57	3.63	0.41609	.	0.639882	0.13091	N	0.414547	T	0.19087	0.0458	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03807	-1.1002	10	0.66056	D	0.02	-4.9738	11.5149	0.50515	0.0:0.0:0.8193:0.1807	.	394	Q6ZN04	MEX3B_HUMAN	Y	394	ENSP00000329918:S394Y	ENSP00000329918:S394Y	S	-	2	0	MEX3B	80123085	0.016000	0.18221	0.201000	0.23476	0.028000	0.11728	0.000000	0.12993	1.099000	0.41499	0.462000	0.41574	TCT	MEX3B	-	NULL	ENSG00000183496		0.652	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	87	0.00	0	G	XM_290645		82336030	82336030	-1	no_errors	ENST00000329713	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	0.121	T
MFAP5	8076	genome.wustl.edu	37	12	8803117	8803117	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:8803117G>T	ENST00000359478.2	-	8	503	c.316C>A	c.(316-318)Cat>Aat	p.H106N	MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000543369.1_Missense_Mutation_p.H84N|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000540087.1_Missense_Mutation_p.H96N|MFAP5_ENST00000433590.2_Missense_Mutation_p.H81N|MFAP5_ENST00000396549.2_Missense_Mutation_p.H96N	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	106					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CATAACTGATGAATGCATTGT	0.433																																						dbGAP											0													130.0	111.0	118.0					12																	8803117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.316C>A	12.37:g.8803117G>T	ENSP00000352455:p.His106Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	pfam_MAGP	p.H106N	ENST00000359478.2	37	c.316	CCDS8595.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.799|8.799	0.932442|0.932442	0.18131|0.18131	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000535411|ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000540087	.|.	.|.	.|.	5.08|5.08	4.16|4.16	0.48862|0.48862	.|.	.|0.282543	.|0.34338	.|N	.|0.004053	T|T	0.49795|0.49795	0.1578|0.1578	L|L	0.55103|0.55103	1.725|1.725	0.27668|0.27668	N|N	0.94686|0.94686	.|D;D;D	.|0.65815	.|0.982;0.995;0.982	.|P;D;P	.|0.64687	.|0.751;0.928;0.751	T|T	0.40646|0.40646	-0.9552|-0.9552	5|9	.|0.07325	.|T	.|0.83	-18.7073|-18.7073	10.5289|10.5289	0.44965|0.44965	0.0:0.0:0.807:0.193|0.0:0.0:0.807:0.193	.|.	.|81;106;96	.|B3KW70;Q13361;Q7Z490	.|.;MFAP5_HUMAN;.	L|N	95|12;106;81;96;84;96	.|.	.|ENSP00000352455:H106N	F|H	-|-	3|1	2|0	MFAP5|MFAP5	8694384|8694384	0.710000|0.710000	0.27896|0.27896	0.205000|0.205000	0.23548|0.23548	0.197000|0.197000	0.23852|0.23852	0.990000|0.990000	0.29642|0.29642	1.328000|1.328000	0.45358|0.45358	0.557000|0.557000	0.71058|0.71058	TTC|CAT	MFAP5	-	pfam_MAGP	ENSG00000197614		0.433	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP5	HGNC	protein_coding	OTTHUMT00000400656.2	324	0.00	0	G	NM_003480		8803117	8803117	-1	no_errors	ENST00000359478	ensembl	human	known	69_37n	missense	299	11.44	39	SNP	0.557	T
MFN1	55669	genome.wustl.edu	37	3	179069703	179069703	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:179069703C>T	ENST00000471841.1	+	3	254	c.128C>T	c.(127-129)cCg>cTg	p.P43L	MFN1_ENST00000263969.5_Missense_Mutation_p.P43L|MFN1_ENST00000280653.7_Missense_Mutation_p.P43L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	43					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATAAGAATCCGGAACTTGAT	0.338																																						dbGAP											0													102.0	100.0	101.0					3																	179069703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.128C>T	3.37:g.179069703C>T	ENSP00000420617:p.Pro43Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.P43L	ENST00000471841.1	37	c.128	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491007	0.26774	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.99760	-5.68;-6.66;-4.94;-5.68	5.16	5.16	0.70880	.	0.170798	0.53938	D	0.000060	D	0.98934	0.9638	L	0.54323	1.7	0.80722	D	1	B;B	0.34313	0.448;0.242	B;B	0.21546	0.035;0.022	D	0.99977	1.2275	10	0.28530	T	0.3	-1.7577	19.0061	0.92851	0.0:1.0:0.0:0.0	.	71;43	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	L	43	ENSP00000420617:P43L;ENSP00000280653:P43L;ENSP00000419134:P43L;ENSP00000263969:P43L	ENSP00000263969:P43L	P	+	2	0	MFN1	180552397	0.999000	0.42202	1.000000	0.80357	0.121000	0.20230	1.681000	0.37618	2.571000	0.86741	0.467000	0.42956	CCG	MFN1	-	NULL	ENSG00000171109		0.338	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	143	0.00	0	C	NM_017927		179069703	179069703	+1	no_errors	ENST00000263969	ensembl	human	known	69_37n	missense	104	25.00	35	SNP	1.000	T
MFSD4	148808	genome.wustl.edu	37	1	205549792	205549792	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:205549792C>T	ENST00000367147.4	+	3	526	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	MFSD4_ENST00000539267.1_Missense_Mutation_p.L145F|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	145					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCCCCAGGTGCTCCATTTCTT	0.632																																						dbGAP											0													91.0	102.0	98.0					1																	205549792		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.433C>T	1.37:g.205549792C>T	ENSP00000356115:p.Leu145Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L145F	ENST00000367147.4	37	c.433	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688356	0.68271	.	.	ENSG00000174514	ENST00000367147;ENST00000539267	T;T	0.59502	0.26;0.26	4.84	4.84	0.62591	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	M	0.83012	2.62	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81202	-0.1040	10	0.62326	D	0.03	-8.2564	16.6767	0.85281	0.0:1.0:0.0:0.0	.	90;145	B7Z8X0;Q8N468	.;MFSD4_HUMAN	F	145	ENSP00000356115:L145F;ENSP00000445329:L145F	ENSP00000356115:L145F	L	+	1	0	MFSD4	203816415	0.982000	0.34865	1.000000	0.80357	0.924000	0.55760	2.194000	0.42668	2.498000	0.84270	0.549000	0.68633	CTC	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000174514		0.632	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	100	0.00	0	C	NM_181644		205549792	205549792	+1	no_errors	ENST00000367147	ensembl	human	known	69_37n	missense	43	21.43	12	SNP	1.000	T
MFSD6	54842	genome.wustl.edu	37	2	191301650	191301650	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:191301650G>T	ENST00000392328.1	+	3	1219	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	MFSD6_ENST00000281416.7_Nonsense_Mutation_p.E299*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	299					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATAATAGGAGAATTTTTCAG	0.438																																						dbGAP											0													206.0	202.0	203.0					2																	191301650		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.895G>T	2.37:g.191301650G>T	ENSP00000376141:p.Glu299*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3KSZ4|Q86TH2|Q9NXM3	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E299*	ENST00000392328.1	37	c.895	CCDS2306.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.761183	0.97817	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-24.5242	19.632	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000281416:E299X	E	+	1	0	MFSD6	191009895	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	GAA	MFSD6	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000151690		0.438	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1	275	0.00	0	G			191301650	191301650	+1	no_errors	ENST00000281416	ensembl	human	known	69_37n	nonsense	189	15.62	35	SNP	1.000	T
MFSD6	54842	genome.wustl.edu	37	2	191301809	191301809	+	Missense_Mutation	SNP	G	G	A	rs202101969		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:191301809G>A	ENST00000392328.1	+	3	1378	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	MFSD6_ENST00000281416.7_Missense_Mutation_p.E352K	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	352					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CACCCACATCGAAGTGCTCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		21322	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													90.0	81.0	84.0					2																	191301809		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1054G>A	2.37:g.191301809G>A	ENSP00000376141:p.Glu352Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E352K	ENST00000392328.1	37	c.1054	CCDS2306.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.680	0.688721	0.14973	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.31510	1.49;1.49	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.761132	0.13405	N	0.390284	T	0.23410	0.0566	N	0.19112	0.55	0.80722	D	1	B	0.27700	0.186	B	0.17098	0.017	T	0.12528	-1.0544	10	0.18276	T	0.48	-3.9464	19.632	0.95713	0.0:0.0:1.0:0.0	.	352	Q6ZSS7	MFSD6_HUMAN	K	352	ENSP00000376141:E352K;ENSP00000281416:E352K	ENSP00000281416:E352K	E	+	1	0	MFSD6	191010054	0.997000	0.39634	0.145000	0.22337	0.158000	0.22134	3.567000	0.53813	2.890000	0.99128	0.650000	0.86243	GAA	MFSD6	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000151690		0.567	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1	136	0.00	0	G			191301809	191301809	+1	no_errors	ENST00000281416	ensembl	human	known	69_37n	missense	101	12.93	15	SNP	0.482	A
MFSD8	256471	genome.wustl.edu	37	4	128854175	128854175	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:128854175A>C	ENST00000296468.3	-	9	955	c.828T>G	c.(826-828)ttT>ttG	p.F276L	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.F231L|MFSD8_ENST00000541133.1_Missense_Mutation_p.F183C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	276					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAGTCACAAAAAACAGAACAT	0.343																																						dbGAP											0													157.0	156.0	156.0					4																	128854175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.828T>G	4.37:g.128854175A>C	ENSP00000296468:p.Phe276Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F276L	ENST00000296468.3	37	c.828	CCDS3736.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.19|15.19	2.760044|2.760044	0.49468|0.49468	.|.	.|.	ENSG00000164073|ENSG00000164073	ENST00000541133|ENST00000296468;ENST00000513559	T|T;T	0.79653|0.56444	-1.29|0.46;0.46	4.55|4.55	2.12|2.12	0.27331|0.27331	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67107|0.67107	0.2858|0.2858	M|M	0.85777|0.85777	2.775|2.775	0.26162|0.26162	N|N	0.979992|0.979992	D|D;D	0.63880|0.89917	0.993|1.0;1.0	P|D;D	0.53185|0.81914	0.72|0.989;0.995	T|T	0.55490|0.55490	-0.8133|-0.8133	10|10	0.87932|0.28530	D|T	0|0.3	-22.0582|-22.0582	4.9734|4.9734	0.14127|0.14127	0.4542:0.0:0.5458:0.0|0.4542:0.0:0.5458:0.0	.|.	183|238;276	B7Z2B2|B7Z280;Q8NHS3	.|.;MFSD8_HUMAN	C|L	183|276;231	ENSP00000439616:F183C|ENSP00000296468:F276L;ENSP00000425000:F231L	ENSP00000439616:F183C|ENSP00000296468:F276L	F|F	-|-	2|3	0|2	MFSD8|MFSD8	129073625|129073625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.478000|0.478000	0.33099|0.33099	2.536000|2.536000	0.45693|0.45693	0.764000|0.764000	0.33197|0.33197	0.477000|0.477000	0.44152|0.44152	TTT|TTT	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.343	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	416	0.00	0	A	NM_152778		128854175	128854175	-1	no_errors	ENST00000296468	ensembl	human	known	69_37n	missense	179	31.15	81	SNP	1.000	C
MGA	23269	genome.wustl.edu	37	15	41961475	41961475	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:41961475C>A	ENST00000570161.1	+	1	383	c.383C>A	c.(382-384)tCt>tAt	p.S128Y	MGA_ENST00000219905.7_Missense_Mutation_p.S128Y|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.S128Y|MGA_ENST00000566586.1_Missense_Mutation_p.S128Y|MGA_ENST00000545763.1_Missense_Mutation_p.S128Y			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGATATATCTCCTGTGGAT	0.408																																						dbGAP											0													233.0	233.0	233.0					15																	41961475		1876	4095	5971	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.383C>A	15.37:g.41961475C>A	ENSP00000457035:p.Ser128Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.S128Y	ENST00000570161.1	37	c.383	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985238	0.53934	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89485	-2.52;-2.52;-2.52	5.51	5.51	0.81932	.	0.702752	0.15527	N	0.257694	D	0.92737	0.7691	L	0.52011	1.625	0.36331	D	0.85889	D;D	0.76494	0.996;0.999	D;D	0.76575	0.93;0.988	D	0.93950	0.7231	10	0.87932	D	0	.	15.2835	0.73810	0.0:0.8604:0.1396:0.0	.	128;128	F5H7K2;E7ENI0	.;.	Y	128	ENSP00000219905:S128Y;ENSP00000374586:S128Y;ENSP00000442467:S128Y	ENSP00000219905:S128Y	S	+	2	0	MGA	39748767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.324000	0.52022	2.763000	0.94921	0.650000	0.86243	TCT	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000174197		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	257	0.00	0	C	NM_001164273.1		41961475	41961475	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	128	18.99	30	SNP	1.000	A
MGA	23269	genome.wustl.edu	37	15	42021428	42021428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42021428C>T	ENST00000570161.1	+	10	3724	c.3724C>T	c.(3724-3726)Cga>Tga	p.R1242*	MGA_ENST00000219905.7_Nonsense_Mutation_p.R1242*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1242*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1242*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1242*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1242*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTCGAGTTCGAGTATATGA	0.413																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											97.0	98.0	98.0					15																	42021428		1908	4126	6034	-	-	-	SO:0001587	stop_gained	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3724C>T	15.37:g.42021428C>T	ENSP00000457035:p.Arg1242*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.R1242*	ENST00000570161.1	37	c.3724	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	43	10.435664	0.99404	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.65	5.65	0.86999	.	0.308803	0.26757	N	0.022652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.869	0.70441	0.1436:0.8564:0.0:0.0	.	.	.	.	X	1242	.	ENSP00000219905:R1242X	R	+	1	2	MGA	39808720	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.727000	0.38095	2.817000	0.96982	0.563000	0.77884	CGA	MGA	-	NULL	ENSG00000174197		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	241	0.00	0	C	NM_001164273.1		42021428	42021428	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	nonsense	165	19.12	39	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42046670	42046670	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42046670G>A	ENST00000570161.1	+	17	7044	c.7044G>A	c.(7042-7044)gaG>gaA	p.E2348E	MGA_ENST00000219905.7_Silent_p.E2348E|MGA_ENST00000389936.4_Silent_p.E2309E|MGA_ENST00000566586.1_Silent_p.E2139E|MGA_ENST00000545763.1_Silent_p.E2139E			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGATGAGGAGCACGTGGACA	0.398																																						dbGAP											0													69.0	71.0	71.0					15																	42046670		1986	4165	6151	-	-	-	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7044G>A	15.37:g.42046670G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.A996T	ENST00000570161.1	37	c.2986	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.398	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	292	0.00	0	G	NM_001164273.1		42046670	42046670	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000564190	ensembl	human	novel	69_37n	missense	276	13.44	43	SNP	0.789	A
MGAM	8972	genome.wustl.edu	37	7	141724853	141724853	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:141724853G>A	ENST00000549489.2	+	8	981	c.886G>A	c.(886-888)Gga>Aga	p.G296R	MGAM_ENST00000475668.2_Missense_Mutation_p.G296R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	296	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGCAGAACGGAACTAATTT	0.403																																						dbGAP											0													130.0	122.0	125.0					7																	141724853		1868	4111	5979	-	-	-	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.886G>A	7.37:g.141724853G>A	ENSP00000447378:p.Gly296Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.G296R	ENST00000549489.2	37	c.886	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121286	0.20877	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.86164	-2.08	5.01	3.05	0.35203	Glycoside hydrolase-type carbohydrate-binding (1);	0.143577	0.32655	N	0.005804	T	0.77738	0.4175	L	0.51914	1.62	0.27551	N	0.950497	P	0.39737	0.685	B	0.27608	0.081	T	0.70252	-0.4923	10	0.35671	T	0.21	.	8.4288	0.32744	0.2065:0.0:0.7935:0.0	.	296	O43451	MGA_HUMAN	R	296;296;173	ENSP00000447378:G296R	ENSP00000316431:G173R	G	+	1	0	MGAM	141371322	0.184000	0.23200	0.992000	0.48379	0.349000	0.29174	3.100000	0.50275	1.330000	0.45394	0.655000	0.94253	GGA	MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.403	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	320	0.00	0	G			141724853	141724853	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	237	12.18	33	SNP	0.769	A
MGAM	8972	genome.wustl.edu	37	7	141738348	141738348	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:141738348G>T	ENST00000549489.2	+	19	2344	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I	MGAM_ENST00000475668.2_Missense_Mutation_p.S750I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	750	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGGACAACAGCACTTGGGAT	0.488																																						dbGAP											0													58.0	61.0	60.0					7																	141738348		1984	4158	6142	-	-	-	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2249G>T	7.37:g.141738348G>T	ENSP00000447378:p.Ser750Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S750I	ENST00000549489.2	37	c.2249	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710951	0.48517	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91686	-2.89	5.33	-10.7	0.00240	.	0.863031	0.10009	N	0.727510	D	0.84588	0.5505	L	0.37750	1.13	0.09310	N	1	B	0.30824	0.296	B	0.31290	0.127	T	0.69691	-0.5077	10	0.37606	T	0.19	.	14.2099	0.65756	0.7747:0.1493:0.0761:0.0	.	750	O43451	MGA_HUMAN	I	750;750;627	ENSP00000447378:S750I	ENSP00000316431:S627I	S	+	2	0	MGAM	141384817	0.000000	0.05858	0.002000	0.10522	0.448000	0.32197	-2.399000	0.01050	-2.463000	0.00535	-0.812000	0.03155	AGC	MGAM	-	pfam_Glyco_hydro_31	ENSG00000257335		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	156	0.00	0	G			141738348	141738348	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	0.000	T
MGAT5B	146664	genome.wustl.edu	37	17	74943962	74943962	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:74943962G>T	ENST00000569840.2	+	17	2548	c.1974G>T	c.(1972-1974)caG>caT	p.Q658H	MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q667H|RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q656H	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	658					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGCCCCGCAGAGCCCCTTTG	0.697																																						dbGAP											0													34.0	34.0	34.0					17																	74943962		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1974G>T	17.37:g.74943962G>T	ENSP00000456037:p.Gln658His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.Q667H	ENST00000569840.2	37	c.2001	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	2.457	-0.325057	0.05350	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.44482	0.92;0.92	4.66	1.43	0.22495	.	0.965564	0.08555	N	0.928467	T	0.26122	0.0637	N	0.19112	0.55	0.18873	N	0.999984	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22556	-1.0213	10	0.35671	T	0.21	-8.9637	6.1043	0.20065	0.1639:0.2859:0.5501:0.0	.	63;667;656	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	H	656;667	ENSP00000301618:Q656H;ENSP00000391227:Q667H	ENSP00000301618:Q656H	Q	+	3	2	MGAT5B	72455557	0.432000	0.25554	0.705000	0.30386	0.080000	0.17528	0.648000	0.24828	0.375000	0.24679	-0.259000	0.10710	CAG	MGAT5B	-	NULL	ENSG00000167889		0.697	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	93	0.00	0	G	NM_144677		74943962	74943962	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.127	T
MGEA5	10724	genome.wustl.edu	37	10	103572878	103572878	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:103572878C>A	ENST00000361464.3	-	3	653	c.258G>T	c.(256-258)caG>caT	p.Q86H	MGEA5_ENST00000439817.1_Missense_Mutation_p.Q86H|MGEA5_ENST00000357797.5_Missense_Mutation_p.Q86H|MGEA5_ENST00000419011.2_Missense_Mutation_p.Q86H|MGEA5_ENST00000370094.3_Missense_Mutation_p.Q86H	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	86					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATTCCCATTTCTGGAGCCTTA	0.383																																						dbGAP											0													99.0	100.0	99.0					10																	103572878		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.258G>T	10.37:g.103572878C>A	ENSP00000354850:p.Gln86His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.Q86H	ENST00000361464.3	37	c.258	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068113	0.76301	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860;ENST00000419011	T;T;T;T;T	0.49720	1.47;1.45;1.47;1.43;0.77	5.72	4.82	0.62117	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.39020	1.185	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.70227	0.968;0.946;0.946;0.95	T	0.58205	-0.7677	10	0.59425	D	0.04	-10.9746	11.5601	0.50772	0.0:0.8574:0.0:0.1426	.	86;86;86;86	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	H	86;86;86;86;34;86	ENSP00000409973:Q86H;ENSP00000354850:Q86H;ENSP00000350445:Q86H;ENSP00000359112:Q86H;ENSP00000407081:Q86H	ENSP00000350445:Q86H	Q	-	3	2	MGEA5	103562868	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.299000	0.51826	1.420000	0.47138	0.650000	0.86243	CAG	MGEA5	-	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF	ENSG00000198408		0.383	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	213	0.00	0	C	NM_012215		103572878	103572878	-1	no_errors	ENST00000361464	ensembl	human	known	69_37n	missense	156	19.17	37	SNP	1.000	A
MIA	8190	genome.wustl.edu	37	19	41282969	41282969	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:41282969C>T	ENST00000263369.3	+	3	523	c.357C>T	c.(355-357)gtC>gtT	p.V119V	MIA_ENST00000597784.1_Silent_p.V119V|MIA_ENST00000594436.1_Silent_p.V119V|RAB4B_ENST00000594800.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA-RAB4B_ENST00000600729.1_Silent_p.V119V	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	119					cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		CTGGCAAAGTCGATGTGAAGA	0.557																																						dbGAP											0													44.0	39.0	41.0					19																	41282969		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.357C>T	19.37:g.41282969C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHV3	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.V119	ENST00000263369.3	37	c.357	CCDS12566.1	19																																																																																			MIA	-	superfamily_SH3_domain	ENSG00000261857		0.557	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIA	HGNC	protein_coding	OTTHUMT00000463162.1	73	0.00	0	C			41282969	41282969	+1	no_errors	ENST00000263369	ensembl	human	known	69_37n	silent	53	14.52	9	SNP	0.000	T
MICAL2	9645	genome.wustl.edu	37	11	12263916	12263916	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:12263916G>A	ENST00000256194.4	+	19	2781	c.2493G>A	c.(2491-2493)ccG>ccA	p.P831P	MICAL2_ENST00000342902.5_Silent_p.P831P|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	831					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTACCCGCCCGAGGGCGCAGG	0.592																																						dbGAP											0													49.0	47.0	48.0					11																	12263916		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2493G>A	11.37:g.12263916G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM	p.P831	ENST00000256194.4	37	c.2493	CCDS7809.1	11																																																																																			MICAL2	-	NULL	ENSG00000133816		0.592	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	127	0.00	0	G	NM_014632		12263916	12263916	+1	no_errors	ENST00000256194	ensembl	human	known	69_37n	silent	60	30.23	26	SNP	0.808	A
MICAL2	9645	genome.wustl.edu	37	11	12281400	12281400	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:12281400C>A	ENST00000256194.4	+	26	3578	c.3290C>A	c.(3289-3291)tCt>tAt	p.S1097Y	RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000342902.5_Missense_Mutation_p.S1076Y|MICAL2_ENST00000537344.1_Missense_Mutation_p.S907Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.S871Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.S907Y	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1097					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ACCGAAAGTTCTTGCGCAGTG	0.587																																						dbGAP											0													48.0	49.0	49.0					11																	12281400		2201	4294	6495	-	-	-	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3290C>A	11.37:g.12281400C>A	ENSP00000256194:p.Ser1097Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM	p.S1097Y	ENST00000256194.4	37	c.3290	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464811	0.43839	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.62105	0.05;0.06;0.05;0.07;0.13	5.37	4.45	0.53987	.	1.018760	0.07827	N	0.960726	T	0.65502	0.2697	N	0.19112	0.55	0.27614	N	0.948566	D;D;P;D;P;B	0.61080	0.989;0.986;0.875;0.984;0.94;0.01	P;P;B;P;P;B	0.59487	0.726;0.858;0.271;0.73;0.459;0.003	T	0.60073	-0.7334	10	0.72032	D	0.01	.	13.1459	0.59461	0.0:0.9223:0.0:0.0777	.	440;1076;907;850;871;1097	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	Y	907;440;1097;907;1076;871	ENSP00000441689:S907Y;ENSP00000256194:S1097Y;ENSP00000433965:S907Y;ENSP00000344894:S1076Y;ENSP00000368932:S871Y	ENSP00000256194:S1097Y	S	+	2	0	MICAL2	12237976	0.993000	0.37304	0.996000	0.52242	0.040000	0.13550	1.488000	0.35551	2.492000	0.84095	0.591000	0.81541	TCT	MICAL2	-	NULL	ENSG00000133816		0.587	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	58	0.00	0	C	NM_014632		12281400	12281400	+1	no_errors	ENST00000256194	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18383700	18383700	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:18383700C>T	ENST00000441493.2	-	6	1107	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	MICAL3_ENST00000414725.2_Missense_Mutation_p.R252Q|MICAL3_ENST00000207726.7_Missense_Mutation_p.R252Q|MICAL3_ENST00000444520.1_Missense_Mutation_p.R252Q|MICAL3_ENST00000429452.1_Missense_Mutation_p.R252Q|MICAL3_ENST00000383094.3_Missense_Mutation_p.R252Q|MICAL3_ENST00000400561.2_Missense_Mutation_p.R252Q|MICAL3_ENST00000585038.1_Missense_Mutation_p.R252Q	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	252	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGTTGTATTTCGGTTGATAAA	0.428																																						dbGAP											0													137.0	121.0	126.0					22																	18383700		1568	3582	5150	-	-	-	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.755G>A	22.37:g.18383700C>T	ENSP00000416015:p.Arg252Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R252Q	ENST00000441493.2	37	c.755	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.605485	0.96626	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3;3.3;3.3	5.11	5.11	0.69529	.	0.050303	0.85682	D	0.000000	T	0.26738	0.0654	M	0.73753	2.245	0.58432	D	0.999996	D;D;D;D;D	0.89917	0.977;0.997;0.976;1.0;1.0	B;D;P;D;P	0.83275	0.425;0.968;0.674;0.996;0.859	T	0.00855	-1.1539	10	0.48119	T	0.1	.	18.5516	0.91066	0.0:1.0:0.0:0.0	.	252;252;252;252;252	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	Q	252	ENSP00000416015:R252Q;ENSP00000414846:R252Q;ENSP00000383406:R252Q;ENSP00000410315:R252Q;ENSP00000391827:R252Q;ENSP00000372574:R252Q;ENSP00000207726:R252Q	ENSP00000207726:R252Q	R	-	2	0	XXbac-B461K10.4;MICAL3	16763700	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	6.086000	0.71352	2.380000	0.81148	0.460000	0.39030	CGA	MICAL3	-	NULL	ENSG00000243156		0.428	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	353	0.00	0	C			18383700	18383700	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	missense	246	23.05	74	SNP	1.000	T
MICALL1	85377	genome.wustl.edu	37	22	38307960	38307960	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:38307960G>T	ENST00000215957.6	+	2	274	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTCTTGCAGAGATTTTGATTC	0.517																																						dbGAP											0													136.0	132.0	133.0					22																	38307960		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.147-1G>T	22.37:g.38307960G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.D50Y	ENST00000215957.6	37	c.148	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	G	22.1	4.251028	0.80135	.	.	ENSG00000100139	ENST00000215957	D	0.95756	-3.8	5.23	5.23	0.72850	Calponin homology domain (5);	0.261365	0.25807	N	0.028171	D	0.98770	0.9586	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99605	1.0979	10	0.87932	D	0	.	19.2356	0.93858	0.0:0.0:1.0:0.0	.	50	Q8N3F8	MILK1_HUMAN	Y	50	ENSP00000215957:D50Y	ENSP00000215957:D50Y	D	+	1	0	MICALL1	36637906	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.521000	0.81832	2.626000	0.88956	0.456000	0.33151	GAT	MICALL1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000100139		0.517	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	170	0.00	0	G	NM_033386	Missense_Mutation	38307960	38307960	+1	no_errors	ENST00000215957	ensembl	human	known	69_37n	missense	120	28.57	48	SNP	1.000	T
MICU1	10367	genome.wustl.edu	37	10	74322765	74322765	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:74322765T>G	ENST00000361114.5	-	3	314	c.218A>C	c.(217-219)aAa>aCa	p.K73T	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.K73T|MICU1_ENST00000398761.4_Missense_Mutation_p.K73T	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	73					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ATTCTTCCCTTTATCACCGAT	0.408																																						dbGAP											0													180.0	153.0	161.0					10																	74322765		1857	4104	5961	-	-	-	SO:0001583	missense	0			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.218A>C	10.37:g.74322765T>G	ENSP00000354415:p.Lys73Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K73T	ENST00000361114.5	37	c.218	CCDS55715.1	10	.	.	.	.	.	.	.	.	.	.	T	10.75	1.437867	0.25900	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	T;T;T	0.80214	-1.35;-1.35;-1.35	4.95	3.79	0.43588	.	0.467007	0.25458	N	0.030537	T	0.70316	0.3210	L	0.46157	1.445	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.62709	-0.6797	10	0.16896	T	0.51	.	8.8433	0.35155	0.0:0.0929:0.0:0.9071	.	73	Q9BPX6	MICU1_HUMAN	T	73	ENSP00000354415:K73T;ENSP00000381745:K73T;ENSP00000384068:K73T	ENSP00000354415:K73T	K	-	2	0	MICU1	73992771	0.919000	0.31177	0.994000	0.49952	0.502000	0.33828	0.974000	0.29436	2.003000	0.58678	0.460000	0.39030	AAA	MICU1	-	NULL	ENSG00000107745		0.408	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	MICU1	HGNC	protein_coding	OTTHUMT00000048586.1	691	0.00	0	T	NM_006077		74322765	74322765	-1	no_errors	ENST00000398761	ensembl	human	known	69_37n	missense	498	10.11	56	SNP	0.857	G
MID1	4281	genome.wustl.edu	37	X	10442787	10442787	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:10442787G>A	ENST00000317552.4	-	6	1417	c.1017C>T	c.(1015-1017)gtC>gtT	p.V339V	MID1_ENST00000380779.1_Silent_p.V339V|MID1_ENST00000380780.1_Silent_p.V339V|MID1_ENST00000453318.2_Silent_p.V339V|MID1_ENST00000380782.2_Silent_p.V339V|MID1_ENST00000380785.1_Silent_p.V339V|MID1_ENST00000380787.1_Silent_p.V339V	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	339	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TTGCCATGGAGACTCTGTAAT	0.363																																						dbGAP											0													99.0	92.0	94.0					X																	10442787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1017C>T	X.37:g.10442787G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG2|O75361|Q9BZX5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V339	ENST00000317552.4	37	c.1017	CCDS14138.1	X																																																																																			MID1	-	smart_Bbox_C	ENSG00000101871		0.363	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	239	0.00	0	G			10442787	10442787	-1	no_errors	ENST00000317552	ensembl	human	known	69_37n	silent	127	31.72	59	SNP	0.991	A
MIER2	54531	genome.wustl.edu	37	19	336128	336128	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:336128C>T	ENST00000264819.4	-	2	65	c.55G>A	c.(55-57)Gag>Aag	p.E19K	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCTGTGCTCGAGGCAGGAG	0.657																																						dbGAP											0													85.0	65.0	72.0					19																	336128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.55G>A	19.37:g.336128C>T	ENSP00000264819:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E19K	ENST00000264819.4	37	c.55	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942982	0.34283	.	.	ENSG00000105556	ENST00000264819	T	0.13538	2.58	5.68	-5.66	0.02451	.	3.838670	0.01619	N	0.022900	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.09377	0.004	T	0.21930	-1.0231	10	0.46703	T	0.11	0.9546	1.3129	0.02101	0.2237:0.3938:0.1014:0.2811	.	19	Q8N344	MIER2_HUMAN	K	19	ENSP00000264819:E19K	ENSP00000264819:E19K	E	-	1	0	MIER2	287128	0.000000	0.05858	0.000000	0.03702	0.669000	0.39330	-1.293000	0.02770	-1.372000	0.02137	0.561000	0.74099	GAG	MIER2	-	NULL	ENSG00000105556		0.657	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	35	0.00	0	C	XM_041843		336128	336128	-1	no_errors	ENST00000264819	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.000	T
CHRNE	1145	genome.wustl.edu	37	17	4798693	4798693	+	IGR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:4798693G>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000347992.7_Missense_Mutation_p.R1016Q|MINK1_ENST00000453408.3_Missense_Mutation_p.R1025Q|MINK1_ENST00000355280.6_Missense_Mutation_p.R1045Q	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TTGCTGGACCGAAGTGGGCAG	0.612																																						dbGAP											0													99.0	103.0	102.0					17																	4798693		2127	4234	6361	-	-	-	SO:0001628	intergenic_variant	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4798693G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R1045Q	ENST00000293780.4	37	c.3134	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635762	0.87760	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.05258	3.47;3.47;3.47	5.11	4.13	0.48395	Citron-like (3);	0.000000	0.64402	D	0.000001	T	0.26774	0.0655	M	0.86420	2.815	0.51767	D	0.999938	P;D;D;D	0.69078	0.945;0.997;0.997;0.997	P;D;D;D	0.70935	0.867;0.964;0.971;0.964	T	0.05022	-1.0911	10	0.87932	D	0	.	11.6807	0.51455	0.0868:0.0:0.9132:0.0	.	1008;1025;1045;1016	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	Q	1045;1025;1016;5	ENSP00000347427:R1045Q;ENSP00000406487:R1025Q;ENSP00000269296:R1016Q	ENSP00000269296:R1016Q	R	+	2	0	MINK1	4739469	1.000000	0.71417	0.875000	0.34327	0.918000	0.54935	7.776000	0.85560	1.358000	0.45922	0.655000	0.94253	CGA	MINK1	-	pfam_Citron,smart_Citron	ENSG00000141503		0.612	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000207560.3	83	0.00	0	G			4798693	4798693	+1	no_errors	ENST00000355280	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.998	A
MYO5C	55930	genome.wustl.edu	37	15	52569355	52569355	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52569355G>A	ENST00000261839.7	-	5	611				MYO5C_ENST00000443683.2_Intron|MYO5C_ENST00000541028.1_Intron|MIR1266_ENST00000408125.1_RNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		cagggctttagtaatcccagc	0.493																																						dbGAP											0													31.0	29.0	30.0					15																	52569355		1559	3575	5134	-	-	-	SO:0001627	intron_variant	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.450-1440C>T	15.37:g.52569355G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	RNA	SNP	-	NULL	ENST00000261839.7	37	NULL	CCDS42036.1	15																																																																																			MIR1266	-	-	ENSG00000221052		0.493	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1266	HGNC	protein_coding	OTTHUMT00000419562.1	32	0.00	0	G	NM_018728		52569355	52569355	-1	no_errors	ENST00000408125	ensembl	human	known	69_37n	rna	35	14.63	6	SNP	0.000	A
FAM65C	140876	genome.wustl.edu	37	20	49231180	49231180	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:49231180G>A	ENST00000327979.2	-	4	748				FAM65C_ENST00000045083.2_Intron|MIR1302-5_ENST00000408164.1_RNA|FAM65C_ENST00000535356.1_Intron			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						Taaaatacaggacacctaatt	0.378																																						dbGAP											0													37.0	35.0	35.0					20																	49231180		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.336+1358C>T	20.37:g.49231180G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPB6|Q9NQQ2	RNA	SNP	-	NULL	ENST00000327979.2	37	NULL	CCDS13431.2	20																																																																																			MIR1302-5	-	-	ENSG00000221091		0.378	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR1302-5	HGNC	protein_coding	OTTHUMT00000257962.1	47	0.00	0	G			49231180	49231180	-1	no_errors	ENST00000408164	ensembl	human	known	69_37n	rna	23	34.29	12	SNP	0.002	A
MIR205HG	642587	genome.wustl.edu	37	1	209602901	209602901	+	lincRNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:209602901C>A	ENST00000384891.1	+	0	0					NR_029622.1				MIR205 host gene (non-protein coding)																		AAAAAAAATTCTTATTTTGAA	0.368																																						dbGAP											0																																										-	-	-			0					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209602901C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-	ENSG00000230937		0.368	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		19	0.00	0	C			209602901	209602901	+1	no_errors	ENST00000419143	ensembl	human	known	69_37n	rna	18	21.74	5	SNP	0.000	A
MEST	4232	genome.wustl.edu	37	7	130135981	130135981	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:130135981G>A	ENST00000223215.4	+	2	402				MEST_ENST00000393187.1_Intron|MEST_ENST00000416162.2_Intron|hsa-mir-335_ENST00000604666.1_RNA|MIR335_ENST00000362173.1_RNA|MEST_ENST00000378576.4_Intron|MEST_ENST00000341441.5_Intron|MEST_ENST00000437945.1_Intron	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GAGCAATAACGAAAAATGTTT	0.343																																					Colon(126;2182 2305 6517 35181)	dbGAP											0													51.0	45.0	47.0					7																	130135981		1507	3447	4954	-	-	-	SO:0001627	intron_variant	0				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.181+618G>A	7.37:g.130135981G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S1|O14973|O15007|Q6AI49|Q92571	RNA	SNP	-	NULL	ENST00000223215.4	37	NULL	CCDS5822.1	7																																																																																			MIR335	-	-	ENSG00000199043		0.343	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR335	HGNC	protein_coding	OTTHUMT00000345183.2	114	0.86	1	G	NM_002402		130135981	130135981	+1	no_errors	ENST00000362173	ensembl	human	known	69_37n	rna	77	24.51	25	SNP	1.000	A
MIR450A1	554214	genome.wustl.edu	37	X	133674457	133674457	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:133674457C>T	ENST00000362262.1	-	0	4				MIR450A2_ENST00000385022.1_RNA|MIR450B_ENST00000401182.1_RNA|MIR542_ENST00000385050.1_RNA	NR_029962.1				microRNA 450a-1																		AGTTTAGTATCGTTTTTGATT	0.333																																						dbGAP											0													184.0	136.0	151.0					X																	133674457		1566	3579	5145	-	-	-			0					Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132		"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1			Standard	NR_029962		Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674457C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000362262.1	37	NULL		X																																																																																			MIR450A1	-	-	ENSG00000199132		0.333	MIR450A1-201	KNOWN	basic	miRNA	MIR450A1	HGNC	miRNA		432	0.00	0	C	NR_029962		133674457	133674457	-1	no_errors	ENST00000362262	ensembl	human	known	69_37n	rna	298	27.14	111	SNP	0.921	T
MIR494	574452	genome.wustl.edu	37	14	101496004	101496004	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:101496004C>A	ENST00000349529.2	+	0	34				MIR543_ENST00000390751.1_RNA|MIR1193_ENST00000408109.3_RNA|MIR329-2_ENST00000385029.1_RNA|MIR329-1_ENST00000385028.1_RNA	NR_030174.1				microRNA 494																		GTGTTGTCTTCTCTTTATTTA	0.428																																						dbGAP											0													118.0	103.0	108.0					14																	101496004		1568	3582	5150	-	-	-			0					14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101496004C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000349529.2	37	NULL		14																																																																																			MIR494	-	-	ENSG00000194717		0.428	MIR494-201	KNOWN	basic	miRNA	MIR494	HGNC	miRNA		75	0.00	0	C	NR_030174		101496004	101496004	+1	no_errors	ENST00000349529	ensembl	human	known	69_37n	rna	90	11.76	12	SNP	1.000	A
MIR518A2	574491	genome.wustl.edu	37	19	54242664	54242664	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:54242664C>T	ENST00000384966.1	+	0	78				MIR516B1_ENST00000385211.1_RNA|MIR517C_ENST00000385103.1_RNA	NR_030213.1				microRNA 518a-2																		TGCTGGATTACGGTTTGAGAA	0.473																																						dbGAP											0													90.0	91.0	91.0					19																	54242664		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54242664C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384966.1	37	NULL		19																																																																																			MIR518A2	-	-	ENSG00000207699		0.473	MIR518A2-201	KNOWN	basic	miRNA	MIR518A2	HGNC	miRNA		186	0.00	0	C	NR_030213		54242664	54242664	+1	no_errors	ENST00000384966	ensembl	human	known	69_37n	rna	184	14.02	30	SNP	0.045	T
MIR494	574452	genome.wustl.edu	37	14	101498354	101498354	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:101498354C>T	ENST00000349529.2	+	0	81				MIR495_ENST00000385010.1_RNA|MIR543_ENST00000390751.1_RNA|MIR1193_ENST00000408109.3_RNA	NR_030174.1				microRNA 494																		GTGTTTTTTTCGCTTTATTTG	0.498																																						dbGAP											0													308.0	236.0	258.0					14																	101498354		1568	3582	5150	-	-	-			0					14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101498354C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000349529.2	37	NULL		14																																																																																			MIR543	-	-	ENSG00000212040		0.498	MIR494-201	KNOWN	basic	miRNA	MIR543	HGNC	miRNA		813	0.00	0	C	NR_030174		101498354	101498354	+1	no_errors	ENST00000390751	ensembl	human	known	69_37n	rna	617	27.00	229	SNP	1.000	T
ATAD2	29028	genome.wustl.edu	37	8	124360295	124360295	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:124360295G>T	ENST00000287394.5	-	15	2005				ATAD2_ENST00000521903.1_Intron|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2						ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tggtgcaaaagaaactgtggt	0.284																																						dbGAP											0													25.0	25.0	25.0					8																	124360295		1566	3576	5142	-	-	-	SO:0001627	intron_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1897+127C>A	8.37:g.124360295G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	RNA	SNP	-	NULL	ENST00000287394.5	37	NULL	CCDS6343.1	8																																																																																			MIR548D1	-	-	ENSG00000207704		0.284	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR548D1	HGNC	protein_coding	OTTHUMT00000381766.2	52	0.00	0	G	NM_014109		124360295	124360295	+1	no_errors	ENST00000384971	ensembl	human	known	69_37n	rna	32	17.95	7	SNP	0.000	T
MIR548I4	100302191	genome.wustl.edu	37	X	83480799	83480799	+	RNA	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:83480799A>G	ENST00000408567.1	-	0	37					NR_031690.1				microRNA 548i-4																		ttgccgttaaaagtatggcaa	0.458																																						dbGAP											0													88.0	85.0	86.0					X																	83480799		947	2028	2975	-	-	-			0					Xq21.1	2011-09-12		2008-12-18	ENSG00000221494	ENSG00000221494		"""ncRNAs / Micro RNAs"""	35355	non-coding RNA	RNA, micro				MIRN548I4			Standard	NR_031690		Approved	hsa-mir-548i-4	uc022aoo.1				X.37:g.83480799A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000408567.1	37	NULL		X																																																																																			MIR548I4	-	-	ENSG00000221494		0.458	MIR548I4-201	KNOWN	basic	miRNA	MIR548I4	HGNC	miRNA		255	0.00	0	A	NR_031690		83480799	83480799	-1	no_errors	ENST00000408567	ensembl	human	known	69_37n	rna	133	18.90	31	SNP	0.000	G
MIR588	693173	genome.wustl.edu	37	6	126805829	126805829	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:126805829C>A	ENST00000384900.1	+	0	53					NR_030316.1				microRNA 588																		ccattgtgttcttacccacca	0.473																																						dbGAP											0													23.0	23.0	23.0					6																	126805829		1568	3581	5149	-	-	-			0					6q22.32	2011-09-12		2008-12-18	ENSG00000207632	ENSG00000207632		"""ncRNAs / Micro RNAs"""	32844	non-coding RNA	RNA, micro				MIRN588			Standard	NR_030316		Approved	hsa-mir-588					6.37:g.126805829C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000384900.1	37	NULL		6																																																																																			MIR588	-	-	ENSG00000207632		0.473	MIR588-201	KNOWN	basic	miRNA	MIR588	HGNC	miRNA		52	0.00	0	C	NR_030316		126805829	126805829	+1	no_errors	ENST00000384900	ensembl	human	known	69_37n	rna	33	17.50	7	SNP	0.182	A
MIS18A	54069	genome.wustl.edu	37	21	33641384	33641384	+	Silent	SNP	G	G	A	rs80027634		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33641384G>A	ENST00000290130.3	-	5	720	c.666C>T	c.(664-666)gcC>gcT	p.A222A	MIS18A_ENST00000486363.1_5'Flank	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	222					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						ATTTGGATTCGGCCTCCCACA	0.358																																						dbGAP											0													114.0	105.0	108.0					21																	33641384		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.666C>T	21.37:g.33641384G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R562|Q542Z0	Silent	SNP	NULL	p.A222	ENST00000290130.3	37	c.666	CCDS13611.1	21																																																																																			MIS18A	-	NULL	ENSG00000159055		0.358	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18A	HGNC	protein_coding	OTTHUMT00000193090.1	361	0.00	0	G	NM_018944		33641384	33641384	-1	no_errors	ENST00000290130	ensembl	human	known	69_37n	silent	217	19.63	53	SNP	0.012	A
AF015720.3	0	genome.wustl.edu	37	21	37093047	37093047	+	lincRNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:37093047C>T	ENST00000412240.1	-	0	40				MIR802_ENST00000390235.1_RNA																							AAAGATTCATCCTTGTGTCCA	0.443																																						dbGAP											0													117.0	101.0	106.0					21																	37093047		1568	3582	5150	-	-	-			0																															21.37:g.37093047C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000412240.1	37	NULL		21																																																																																			MIR802	-	-	ENSG00000211590		0.443	AF015720.3-001	KNOWN	basic	lincRNA	MIR802	HGNC	lincRNA	OTTHUMT00000194412.1	349	0.28	1	C			37093047	37093047	+1	no_errors	ENST00000390235	ensembl	human	known	69_37n	rna	240	15.49	44	SNP	1.000	T
MIS18BP1	55320	genome.wustl.edu	37	14	45687634	45687634	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:45687634T>G	ENST00000310806.4	-	12	3151	c.2693A>C	c.(2692-2694)cAc>cCc	p.H898P		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	898	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ACCAGGTTTGTGCTTTGGAAG	0.403																																						dbGAP											0													64.0	63.0	63.0					14																	45687634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2693A>C	14.37:g.45687634T>G	ENSP00000309790:p.His898Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H898P	ENST00000310806.4	37	c.2693	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931100	0.73327	.	.	ENSG00000129534	ENST00000310806	T	0.41758	0.99	5.37	5.37	0.77165	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.176964	0.64402	D	0.000010	T	0.61702	0.2368	M	0.72894	2.215	0.54753	D	0.999986	D	0.67145	0.996	D	0.66716	0.946	T	0.66118	-0.6003	10	0.87932	D	0	-4.1816	13.3226	0.60440	0.0:0.0:0.0:1.0	.	898	Q6P0N0	M18BP_HUMAN	P	898	ENSP00000309790:H898P	ENSP00000309790:H898P	H	-	2	0	MIS18BP1	44757384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.271000	0.65553	2.054000	0.61138	0.482000	0.46254	CAC	MIS18BP1	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000129534		0.403	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	104	0.00	0	T			45687634	45687634	-1	no_errors	ENST00000310806	ensembl	human	known	69_37n	missense	77	32.46	37	SNP	1.000	G
MIS18BP1	55320	genome.wustl.edu	37	14	45712013	45712013	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:45712013C>A	ENST00000310806.4	-	3	1067	c.609G>T	c.(607-609)aaG>aaT	p.K203N	MIS18BP1_ENST00000492652.1_5'Flank	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	203					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GGCACTGAATCTTTTGTTTGA	0.328																																						dbGAP											0													144.0	148.0	147.0					14																	45712013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.609G>T	14.37:g.45712013C>A	ENSP00000309790:p.Lys203Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K203N	ENST00000310806.4	37	c.609	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	9.905	1.208023	0.22205	.	.	ENSG00000129534	ENST00000310806	T	0.33216	1.42	4.23	2.38	0.29361	.	0.827944	0.10206	N	0.702702	T	0.16557	0.0398	N	0.12182	0.205	0.26823	N	0.968754	B	0.24882	0.113	B	0.20767	0.031	T	0.21381	-1.0247	10	0.62326	D	0.03	.	5.4986	0.16817	0.1949:0.7011:0.0:0.104	.	203	Q6P0N0	M18BP_HUMAN	N	203	ENSP00000309790:K203N	ENSP00000309790:K203N	K	-	3	2	MIS18BP1	44781763	0.993000	0.37304	0.703000	0.30354	0.005000	0.04900	0.685000	0.25378	0.528000	0.28580	-0.203000	0.12734	AAG	MIS18BP1	-	NULL	ENSG00000129534		0.328	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	590	0.00	0	C			45712013	45712013	-1	no_errors	ENST00000310806	ensembl	human	known	69_37n	missense	300	22.28	86	SNP	0.951	A
MITD1	129531	genome.wustl.edu	37	2	99790403	99790403	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:99790403C>A	ENST00000289359.2	-	2	304	c.228G>T	c.(226-228)aaG>aaT	p.K76N	MRPL30_ENST00000410042.1_Intron|MITD1_ENST00000466880.1_5'UTR	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	76	MIT.				cytokinetic cell separation (GO:0000920)|mitotic cytokinesis (GO:0000281)|mitotic cytokinetic cell separation (GO:1902409)|negative regulation of protein binding (GO:0032091)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)	phosphatidylinositol binding (GO:0035091)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.K76del(1)|p.K76N(1)		large_intestine(3)|lung(2)|ovary(1)	6						CCAAGTACTTCTTTATGTTTT	0.333																																						dbGAP											2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(2)											160.0	144.0	150.0					2																	99790403		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC018453	CCDS2040.1	2q11.2	2006-07-14			ENSG00000158411	ENSG00000158411			25207	protein-coding gene	gene with protein product						16730941	Standard	NM_138798		Approved	LOC129531	uc002szs.1	Q8WV92	OTTHUMG00000130638	ENST00000289359.2:c.228G>T	2.37:g.99790403C>A	ENSP00000289359:p.Lys76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YV0	Missense_Mutation	SNP	pfam_MIT,smart_MIT	p.K76N	ENST00000289359.2	37	c.228	CCDS2040.1	2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746085	0.49151	.	.	ENSG00000158411	ENST00000422537;ENST00000289359;ENST00000409107	T;T;T	0.77229	-1.08;-1.08;-1.08	5.77	3.88	0.44766	MIT (2);	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87113	0.2186	10	0.72032	D	0.01	-3.3688	4.6389	0.12540	0.0:0.5976:0.1652:0.2371	.	76	Q8WV92	MITD1_HUMAN	N	58;76;76	ENSP00000413371:K58N;ENSP00000289359:K76N;ENSP00000387316:K76N	ENSP00000289359:K76N	K	-	3	2	MITD1	99156835	0.928000	0.31464	1.000000	0.80357	0.388000	0.30384	0.820000	0.27323	1.453000	0.47775	0.650000	0.86243	AAG	MITD1	-	pfam_MIT,smart_MIT	ENSG00000158411		0.333	MITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MITD1	HGNC	protein_coding	OTTHUMT00000253126.1	791	0.00	0	C	NM_138798		99790403	99790403	-1	no_errors	ENST00000289359	ensembl	human	known	69_37n	missense	730	12.98	109	SNP	0.998	A
MKI67	4288	genome.wustl.edu	37	10	129901624	129901624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:129901624G>T	ENST00000368654.3	-	13	8855	c.8480C>A	c.(8479-8481)tCa>tAa	p.S2827*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.S2467*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2827	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTGGTGATGATTTGCAGGG	0.493																																						dbGAP											0													200.0	177.0	185.0					10																	129901624		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8480C>A	10.37:g.129901624G>T	ENSP00000357643:p.Ser2827*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Nonsense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S2827*	ENST00000368654.3	37	c.8480	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	50	16.973884	0.99876	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.77	1.62	0.23740	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7841	0.18322	0.0:0.2189:0.5559:0.2252	.	.	.	.	X	2827;2467;2826	.	ENSP00000357642:S2467X	S	-	2	0	MKI67	129791614	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.391000	0.20784	0.849000	0.35215	0.467000	0.42956	TCA	MKI67	-	pfam_K167R	ENSG00000148773		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	198	0.00	0	G	NM_002417		129901624	129901624	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	nonsense	201	10.27	23	SNP	0.000	T
MKI67	4288	genome.wustl.edu	37	10	129905295	129905295	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:129905295T>G	ENST00000368654.3	-	13	5184	c.4809A>C	c.(4807-4809)gaA>gaC	p.E1603D	MKI67_ENST00000368653.3_Missense_Mutation_p.E1243D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1603	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAGTCATTGATTCCTCAGTGT	0.502																																						dbGAP											0													192.0	185.0	187.0					10																	129905295		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4809A>C	10.37:g.129905295T>G	ENSP00000357643:p.Glu1603Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1603D	ENST00000368654.3	37	c.4809	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	T	3.591	-0.083583	0.07141	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01359	5.1;4.98	3.07	-3.57	0.04612	.	1.002790	0.08043	N	0.995399	T	0.01029	0.0034	L	0.28344	0.845	0.09310	N	1	B;B;B	0.21381	0.004;0.055;0.002	B;B;B	0.24974	0.002;0.057;0.002	T	0.49011	-0.8983	10	0.19590	T	0.45	.	1.3482	0.02167	0.1238:0.1972:0.2941:0.3849	.	1602;1243;1603	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	1603;1243;1602	ENSP00000357643:E1603D;ENSP00000357642:E1243D	ENSP00000357642:E1243D	E	-	3	2	MKI67	129795285	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.871000	0.04223	-0.793000	0.04475	-0.376000	0.06991	GAA	MKI67	-	NULL	ENSG00000148773		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	658	0.30	2	T	NM_002417		129905295	129905295	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	548	26.70	200	SNP	0.000	G
MKI67	4288	genome.wustl.edu	37	10	129911740	129911740	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:129911740C>A	ENST00000368654.3	-	8	1982	c.1607G>T	c.(1606-1608)aGa>aTa	p.R536I	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.R176I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	536					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGAGACTTTCTTTTGGTTGG	0.498																																						dbGAP											0													225.0	204.0	211.0					10																	129911740		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1607G>T	10.37:g.129911740C>A	ENSP00000357643:p.Arg536Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R536I	ENST00000368654.3	37	c.1607	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553514	0.65425	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609;ENST00000368652	T;T	0.01584	4.8;4.75	4.95	4.95	0.65309	.	0.135032	0.48286	D	0.000184	T	0.09686	0.0238	M	0.79258	2.445	0.20196	N	0.999925	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.994;0.991;0.991	T	0.01500	-1.1339	10	0.87932	D	0	.	12.6137	0.56565	0.2299:0.7701:0.0:0.0	.	536;176;536	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	536;176;536;111	ENSP00000357643:R536I;ENSP00000357642:R176I	ENSP00000357641:R111I	R	-	2	0	MKI67	129801730	0.000000	0.05858	0.012000	0.15200	0.837000	0.47467	0.256000	0.18351	2.576000	0.86940	0.655000	0.94253	AGA	MKI67	-	NULL	ENSG00000148773		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	204	0.00	0	C	NM_002417		129911740	129911740	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	118	18.62	27	SNP	0.060	A
MKKS	8195	genome.wustl.edu	37	20	10385934	10385934	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:10385934C>T	ENST00000347364.3	-	6	2436	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	MKKS_ENST00000399054.2_Silent_p.L558L	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	558					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GATCCAAAATCAAATTGGCTG	0.408																																					Melanoma(79;1979 2212 6640)	dbGAP											0													33.0	32.0	32.0					20																	10385934		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1674G>A	20.37:g.10385934C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B0|D3DW18	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.L558	ENST00000347364.3	37	c.1674	CCDS13111.1	20																																																																																			MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.408	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	50	0.00	0	C			10385934	10385934	-1	no_errors	ENST00000347364	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	1.000	T
MKLN1	4289	genome.wustl.edu	37	7	131071996	131071996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:131071996G>T	ENST00000352689.6	+	3	326	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.E4*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.E4*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	96					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AATGAATGAAGAAAATATGAC	0.348																																						dbGAP											0													87.0	92.0	90.0					7																	131071996		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.286G>T	7.37:g.131071996G>T	ENSP00000323527:p.Glu96*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E96*	ENST00000352689.6	37	c.286	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915153	0.52546	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	.	.	.	5.43	5.43	0.79202	.	0.043073	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.0241	18.23	0.89931	0.0:0.0:1.0:0.0	.	.	.	.	X	4;4;4;4;96	.	ENSP00000323527:E96X	E	+	1	0	MKLN1	130722536	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	9.816000	0.99350	2.535000	0.85469	0.655000	0.94253	GAA	MKLN1	-	pfam_Muskelin_N,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	ENSG00000128585		0.348	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	276	0.00	0	G	NM_013255		131071996	131071996	+1	no_errors	ENST00000352689	ensembl	human	known	69_37n	nonsense	156	25.71	54	SNP	1.000	T
MKLN1	4289	genome.wustl.edu	37	7	131084022	131084022	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:131084022G>A	ENST00000352689.6	+	6	573	c.533G>A	c.(532-534)cGc>cAc	p.R178H	MKLN1_ENST00000429546.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.R86H	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	178	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GAAGCTATTCGCCTTTGCCTA	0.373																																						dbGAP											0													127.0	128.0	128.0					7																	131084022		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.533G>A	7.37:g.131084022G>A	ENSP00000323527:p.Arg178His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R178H	ENST00000352689.6	37	c.533	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.486713	0.96323	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000446815;ENST00000352689	T;T	0.58652	1.34;0.32	5.8	5.8	0.92144	LisH dimerisation motif (2);Muskelin, N-terminal (1);	0.046892	0.85682	D	0.000000	T	0.79161	0.4399	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	P;D;D	0.67103	0.833;0.949;0.949	T	0.81743	-0.0793	10	0.87932	D	0	-4.4417	19.0392	0.92991	0.0:0.0:1.0:0.0	.	178;155;86	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	H	86;86;86;178	ENSP00000398094:R86H;ENSP00000323527:R178H	ENSP00000323527:R178H	R	+	2	0	MKLN1	130734562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.785000	0.99042	2.740000	0.93945	0.650000	0.86243	CGC	MKLN1	-	pfam_Muskelin_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000128585		0.373	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	285	0.00	0	G	NM_013255		131084022	131084022	+1	no_errors	ENST00000352689	ensembl	human	known	69_37n	missense	127	25.29	43	SNP	1.000	A
MKX	283078	genome.wustl.edu	37	10	28023636	28023636	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:28023636G>A	ENST00000375790.5	-	5	1019	c.587C>T	c.(586-588)tCg>tTg	p.S196L	MKX_ENST00000419761.1_Missense_Mutation_p.S196L			Q8IYA7	MKX_HUMAN	mohawk homeobox	196					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTTGATGACCGAATTCTCACT	0.488																																						dbGAP											0													147.0	145.0	146.0					10																	28023636		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.587C>T	10.37:g.28023636G>A	ENSP00000364946:p.Ser196Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S196L	ENST00000375790.5	37	c.587	CCDS7156.1	10	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466944	0.43839	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.68765	-0.35;-0.35	5.56	5.56	0.83823	.	0.196900	0.45867	D	0.000340	T	0.66674	0.2813	L	0.56769	1.78	0.54753	D	0.999989	B	0.15473	0.013	B	0.12837	0.008	T	0.62358	-0.6871	10	0.49607	T	0.09	-12.6586	19.5918	0.95518	0.0:0.0:1.0:0.0	.	196	Q8IYA7	MKX_HUMAN	L	196	ENSP00000364946:S196L;ENSP00000400896:S196L	ENSP00000364946:S196L	S	-	2	0	MKX	28063642	1.000000	0.71417	0.890000	0.34922	0.047000	0.14425	6.298000	0.72763	2.626000	0.88956	0.558000	0.71614	TCG	MKX	-	NULL	ENSG00000150051		0.488	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKX	HGNC	protein_coding	OTTHUMT00000047332.3	342	0.29	1	G	NM_173576		28023636	28023636	-1	no_errors	ENST00000375790	ensembl	human	known	69_37n	missense	260	31.51	121	SNP	1.000	A
MLF2	8079	genome.wustl.edu	37	12	6859522	6859522	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6859522G>A	ENST00000203630.5	-	6	915				MLF2_ENST00000435120.1_Intron|MLF2_ENST00000542154.1_Intron|MLF2_ENST00000539187.1_Intron|MLF2_ENST00000564181.1_5'UTR			Q15773	MLF2_HUMAN	myeloid leukemia factor 2						defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						ATCACCCCTGGTGAAGGGATT	0.502																																						dbGAP											0													62.0	64.0	63.0					12																	6859522		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.271-51C>T	12.37:g.6859522G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000203630.5	37	NULL	CCDS8559.1	12																																																																																			MLF2	-	-	ENSG00000089693		0.502	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF2	HGNC	protein_coding	OTTHUMT00000400733.2	125	0.00	0	G			6859522	6859522	-1	no_errors	ENST00000564181	ensembl	human	known	69_37n	rna	74	29.91	32	SNP	0.000	A
MLH1	4292	genome.wustl.edu	37	3	37081766	37081766	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:37081766C>A	ENST00000231790.2	+	14	1864	c.1648C>A	c.(1648-1650)Ctc>Atc	p.L550I	MLH1_ENST00000539477.1_Missense_Mutation_p.L309I|MLH1_ENST00000458205.2_Missense_Mutation_p.L309I|MLH1_ENST00000536378.1_Missense_Mutation_p.L309I|MLH1_ENST00000435176.1_Missense_Mutation_p.L452I|MLH1_ENST00000455445.2_Missense_Mutation_p.L309I	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	550	Interaction with EXO1.		L -> P (in HNPCC2). {ECO:0000269|PubMed:16083711}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GTTATACCTTCTCAACACCAC	0.488		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)											140.0	115.0	123.0					3																	37081766		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.1648C>A	3.37:g.37081766C>A	ENSP00000231790:p.Leu550Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.L550I	ENST00000231790.2	37	c.1648	CCDS2663.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.836131|1.836131	0.32421|0.32421	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000421440;ENST00000456676|ENST00000231790;ENST00000383761;ENST00000396438;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000536378;ENST00000413740	.|D;D;D;D;D;D;D	.|0.91237	.|-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.74|5.74	4.84|4.84	0.62591|0.62591	.|.	.|0.059802	.|0.64402	.|D	.|0.000002	D|D	0.89361|0.89361	0.6693|0.6693	L|L	0.33624|0.33624	1.015|1.015	0.54753|0.54753	D|D	0.999982|0.999982	.|P;P;P;P;B;B	.|0.46656	.|0.492;0.882;0.82;0.517;0.149;0.04	.|B;P;B;P;B;B	.|0.53549	.|0.247;0.729;0.426;0.578;0.117;0.071	D|D	0.85197|0.85197	0.1013|0.1013	6|10	0.87932|0.09843	D|T	0|0.71	-16.0699|-16.0699	16.8482|16.8482	0.85986|0.85986	0.0:0.8721:0.1279:0.0|0.0:0.8721:0.1279:0.0	.|.	.|452;309;93;309;550;550	.|E9PCU2;B7Z821;E9PE33;B4DI13;Q53GX1;P40692	.|.;.;.;.;.;MLH1_HUMAN	L|I	91;541|550;414;93;309;309;309;452;309;91	.|ENSP00000231790:L550I;ENSP00000402667:L309I;ENSP00000443665:L309I;ENSP00000398272:L309I;ENSP00000402564:L452I;ENSP00000444286:L309I;ENSP00000416476:L91I	ENSP00000413580:F91L|ENSP00000231790:L550I	F|L	+|+	3|1	2|0	MLH1|MLH1	37056770|37056770	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.002000|0.002000	0.02628|0.02628	5.806000|5.806000	0.69150|0.69150	2.712000|2.712000	0.92718|0.92718	0.561000|0.561000	0.74099|0.74099	TTC|CTC	MLH1	-	NULL	ENSG00000076242		0.488	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	217	0.00	0	C	NM_000249		37081766	37081766	+1	no_errors	ENST00000231790	ensembl	human	known	69_37n	missense	124	24.39	40	SNP	1.000	A
MLH3	27030	genome.wustl.edu	37	14	75514890	75514890	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:75514890G>T	ENST00000556740.1	-	1	1504	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.S490Y|MLH3_ENST00000238662.7_Missense_Mutation_p.S490Y|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S490Y			Q9UHC1	MLH3_HUMAN	mutL homolog 3	490					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S490Y(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTCCAGGAAAGATTTTTTATG	0.378								Mismatch excision repair (MMR)																														dbGAP											2	Substitution - Missense(2)	lung(2)											90.0	97.0	95.0					14																	75514890		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1469C>A	14.37:g.75514890G>T	ENSP00000452316:p.Ser490Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C	p.S490Y	ENST00000556740.1	37	c.1469	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	G	1.967	-0.437498	0.04636	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83419	-1.62;-1.66;-1.72;-1.62	5.34	-0.28	0.12886	.	1.749140	0.02828	N	0.126415	T	0.78698	0.4324	L	0.56769	1.78	0.09310	N	0.999997	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.001	T	0.57619	-0.7780	10	0.59425	D	0.04	0.3633	2.4863	0.04600	0.2139:0.342:0.3276:0.1165	.	490;490	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Y	490	ENSP00000348020:S490Y;ENSP00000238662:S490Y;ENSP00000451540:S490Y;ENSP00000452316:S490Y	ENSP00000238662:S490Y	S	-	2	0	MLH3	74584643	0.000000	0.05858	0.121000	0.21740	0.448000	0.32197	0.167000	0.16602	-0.075000	0.12798	-0.291000	0.09656	TCT	MLH3	-	NULL	ENSG00000119684		0.378	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	73	0.00	0	G	NM_014381		75514890	75514890	-1	no_errors	ENST00000355774	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	0.000	T
KMT2A	4297	genome.wustl.edu	37	11	118343828	118343828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118343828C>T	ENST00000389506.5	+	3	1954	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R652*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R652*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	652					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGATAATTTCCGACCCCCTCC	0.463																																						dbGAP											0													81.0	84.0	83.0					11																	118343828		2200	4296	6496	-	-	-	SO:0001587	stop_gained	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1954C>T	11.37:g.118343828C>T	ENSP00000374157:p.Arg652*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R652*	ENST00000389506.5	37	c.1954	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.167619	0.94768	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	.	.	.	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2035	0.59782	0.2673:0.7327:0.0:0.0	.	.	.	.	X	652;685;652;652	.	ENSP00000346516:R652X	R	+	1	2	MLL	117849038	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.621000	0.54210	2.526000	0.85167	0.491000	0.48974	CGA	MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	73	0.00	0	C	NM_005933		118343828	118343828	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	nonsense	51	21.54	14	SNP	1.000	T
KMT2A	4297	genome.wustl.edu	37	11	118390417	118390417	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118390417G>A	ENST00000389506.5	+	32	11222	c.11222G>A	c.(11221-11223)cGa>cAa	p.R3741Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.R3744Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.R3703Q|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000532597.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3741	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAGCACTGTCGAAATTACAAA	0.522																																						dbGAP											0													160.0	145.0	150.0					11																	118390417		2200	4295	6495	-	-	-	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11222G>A	11.37:g.118390417G>A	ENSP00000374157:p.Arg3741Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R3741Q	ENST00000389506.5	37	c.11222	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767126	0.49574	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.39406	1.08;1.08;1.08	5.82	5.82	0.92795	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.119730	0.56097	D	0.000035	T	0.37865	0.1019	N	0.14661	0.345	0.42882	D	0.994179	D;D	0.64830	0.994;0.994	P;P	0.57371	0.819;0.819	T	0.10200	-1.0640	10	0.19590	T	0.45	.	11.0821	0.48066	0.1111:0.0:0.8889:0.0	.	3744;3741	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3744;3741;3703;2651	ENSP00000436786:R3744Q;ENSP00000374157:R3741Q;ENSP00000346516:R3703Q	ENSP00000346516:R3703Q	R	+	2	0	MLL	117895627	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.164000	0.64954	2.756000	0.94617	0.563000	0.77884	CGA	MLL	-	pfam_FYrich_C,smart_FYrich_C,pirsf_MeTrfase_trithorax	ENSG00000118058		0.522	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	202	0.00	0	G	NM_005933		118390417	118390417	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	missense	196	17.92	43	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49425078	49425078	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:49425078C>A	ENST00000301067.7	-	39	13409	c.13410G>T	c.(13408-13410)aaG>aaT	p.K4470N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4470					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTTGCACATTCTTTGCCCGGA	0.617																																						dbGAP											0													69.0	74.0	73.0					12																	49425078		2061	4211	6272	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13410G>T	12.37:g.49425078C>A	ENSP00000301067:p.Lys4470Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K4470N	ENST00000301067.7	37	c.13410	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281478	0.23392	.	.	ENSG00000167548	ENST00000301067	D	0.89746	-2.56	5.57	5.57	0.84162	.	0.000000	0.38272	N	0.001742	D	0.91563	0.7335	L	0.29908	0.895	0.52501	D	0.999952	D	0.89917	1.0	D	0.85130	0.997	D	0.92386	0.5917	10	0.87932	D	0	.	18.6999	0.91617	0.0:1.0:0.0:0.0	.	4470	O14686	MLL2_HUMAN	N	4470	ENSP00000301067:K4470N	ENSP00000301067:K4470N	K	-	3	2	MLL2	47711345	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.801000	0.47908	2.793000	0.96121	0.655000	0.94253	AAG	MLL2	-	NULL	ENSG00000167548		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	49	0.00	0	C			49425078	49425078	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151845580	151845580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:151845580G>A	ENST00000262189.6	-	52	13650	c.13432C>T	c.(13432-13434)Cga>Tga	p.R4478*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R4535*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4478					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGGTGCATCGAAATCTGTGG	0.438																																						dbGAP											0													156.0	152.0	154.0					7																	151845580		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13432C>T	7.37:g.151845580G>A	ENSP00000262189:p.Arg4478*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4535*	ENST00000262189.6	37	c.13603	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	55|55	24.432894|24.432894	0.99960|0.99960	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	5.24|5.24	4.3|4.3	0.51218|0.51218	.|.	0.000000|.	0.37095|.	U|.	0.002252|.	.|T	.|0.69672	.|0.3137	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68187	.|-0.5475	.|4	0.02654|.	T|.	1|.	.|.	14.8766|14.8766	0.70498|0.70498	0.0:0.0:0.8002:0.1998|0.0:0.0:0.8002:0.1998	.|.	.|.	.|.	.|.	X|L	4478;4535;1095|2038	.|.	ENSP00000262189:R4478X|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151476513|151476513	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.993000|0.993000	0.82548|0.82548	4.759000|4.759000	0.62227|0.62227	2.602000|2.602000	0.87976|0.87976	0.557000|0.557000	0.71058|0.71058	CGA|TCG	MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING	ENSG00000055609		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	70	0.00	0	G			151845580	151845580	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	61	27.38	23	SNP	0.998	A
KMT2C	58508	genome.wustl.edu	37	7	151873885	151873885	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:151873885C>T	ENST00000262189.6	-	38	8871	c.8653G>A	c.(8653-8655)Gaa>Aaa	p.E2885K	KMT2C_ENST00000355193.2_Missense_Mutation_p.E2885K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2885					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCAGCAGTTTCTCGATTGGTT	0.438																																						dbGAP											0													98.0	95.0	96.0					7																	151873885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8653G>A	7.37:g.151873885C>T	ENSP00000262189:p.Glu2885Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E2885K	ENST00000262189.6	37	c.8653	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.392|3.392	-0.124056|-0.124056	0.06795|0.06795	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|D	0.85339|0.84146	-1.96;-1.97|-1.81	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.137414|.	0.32218|.	N|.	0.006415|.	D|D	0.84790|0.84790	0.5550|0.5550	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28933|.	0.22;0.228;0.228|.	B;B;B|.	0.27796|.	0.036;0.083;0.083|.	T|T	0.82946|0.82946	-0.0205|-0.0205	10|6	0.10636|.	T|.	0.68|.	.|.	18.1261|18.1261	0.89586|0.89586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2885;1946;2885|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	K|K	2885|390	ENSP00000262189:E2885K;ENSP00000347325:E2885K|ENSP00000353218:R390K	ENSP00000262189:E2885K|.	E|R	-|-	1|2	0|0	MLL3|MLL3	151504818|151504818	0.999000|0.999000	0.42202|0.42202	0.015000|0.015000	0.15790|0.15790	0.064000|0.064000	0.16182|0.16182	3.025000|3.025000	0.49681|0.49681	2.268000|2.268000	0.75426|0.75426	0.650000|0.650000	0.86243|0.86243	GAA|AGA	MLL3	-	NULL	ENSG00000055609		0.438	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	106	0.00	0	C			151873885	151873885	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	124	16.78	25	SNP	0.114	T
MMP24	10893	genome.wustl.edu	37	20	33842406	33842406	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:33842406C>A	ENST00000246186.6	+	4	751	c.666C>A	c.(664-666)atC>atA	p.I222I	MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	222					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	ACATCATGATCTTTTTTGCTT	0.537																																						dbGAP											0													218.0	226.0	223.0					20																	33842406		2195	4299	6494	-	-	-	SO:0001819	synonymous_variant	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.666C>A	20.37:g.33842406C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBG8|Q9H440	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.I222	ENST00000246186.6	37	c.666	CCDS46593.1	20																																																																																			MMP24	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	ENSG00000125966		0.537	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	429	0.00	0	C	NM_006690		33842406	33842406	+1	no_errors	ENST00000246186	ensembl	human	known	69_37n	silent	307	13.73	49	SNP	0.997	A
MMP26	56547	genome.wustl.edu	37	11	5011056	5011056	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5011056C>T	ENST00000380390.1	+	3	494	c.278C>T	c.(277-279)tCg>tTg	p.S93L	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.S93L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	93					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	ACCTCCATCTCGCCAGGAAGA	0.517																																						dbGAP											0													71.0	58.0	63.0					11																	5011056		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.278C>T	11.37:g.5011056C>T	ENSP00000369753:p.Ser93Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.S93L	ENST00000380390.1	37	c.278	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444292	0.25987	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.26660	1.72;1.72	3.73	-5.66	0.02451	Metallopeptidase, catalytic domain (1);	1.060550	0.07572	U	0.918687	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34079	-0.9843	10	0.14656	T	0.56	0.3057	4.2017	0.10469	0.3065:0.1608:0.0:0.5327	.	93	Q9NRE1	MMP26_HUMAN	L	93	ENSP00000369753:S93L;ENSP00000300762:S93L	ENSP00000300762:S93L	S	+	2	0	MMP26	4967632	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.135000	0.15952	-1.106000	0.03008	-0.252000	0.11476	TCG	MMP26	-	NULL	ENSG00000167346		0.517	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	114	0.00	0	C	NM_021801		5011056	5011056	+1	no_errors	ENST00000300762	ensembl	human	known	69_37n	missense	78	20.41	20	SNP	0.000	T
MMP26	56547	genome.wustl.edu	37	11	5011924	5011924	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5011924C>A	ENST00000380390.1	+	4	633	c.417C>A	c.(415-417)ttC>ttA	p.F139L	MMP26_ENST00000300762.1_Missense_Mutation_p.F139L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	139					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTTTGATATTCCAGCAAGTGC	0.418																																						dbGAP											0													116.0	110.0	112.0					11																	5011924		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.417C>A	11.37:g.5011924C>A	ENSP00000369753:p.Phe139Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	p.F139L	ENST00000380390.1	37	c.417	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394705	0.25205	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.53206	0.63;0.63	4.0	0.685	0.18009	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.44902	D	0.000409	T	0.66157	0.2761	M	0.86343	2.81	0.27985	N	0.9359	D	0.89917	1.0	D	0.83275	0.996	T	0.59295	-0.7481	10	0.87932	D	0	-11.7544	6.4862	0.22089	0.0:0.5751:0.0:0.4249	.	139	Q9NRE1	MMP26_HUMAN	L	139	ENSP00000369753:F139L;ENSP00000300762:F139L	ENSP00000300762:F139L	F	+	3	2	MMP26	4968500	0.142000	0.22610	0.058000	0.19502	0.210000	0.24377	0.399000	0.20916	-0.210000	0.10140	-0.142000	0.14014	TTC	MMP26	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin	ENSG00000167346		0.418	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	177	0.00	0	C	NM_021801		5011924	5011924	+1	no_errors	ENST00000300762	ensembl	human	known	69_37n	missense	122	14.08	20	SNP	0.749	A
MMP27	64066	genome.wustl.edu	37	11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:102575419G>A	ENST00000260229.4	-	2	281	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	64					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R64W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TGCATTTCCCGAATTTTGTCA	0.428																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											91.0	87.0	89.0					11																	102575419		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.190C>T	11.37:g.102575419G>A	ENSP00000260229:p.Arg64Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.R64W	ENST00000260229.4	37	c.190	CCDS8319.1	11	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708846	0.48517	.	.	ENSG00000137675	ENST00000260229	T	0.42513	0.97	5.55	5.55	0.83447	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.378222	0.22952	N	0.053647	T	0.68522	0.3010	M	0.89904	3.07	0.36003	D	0.837522	D	0.76494	0.999	P	0.62089	0.898	T	0.79293	-0.1863	10	0.87932	D	0	.	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	64	Q9H306	MMP27_HUMAN	W	64	ENSP00000260229:R64W	ENSP00000260229:R64W	R	-	1	2	MMP27	102080629	0.048000	0.20356	0.993000	0.49108	0.386000	0.30323	2.100000	0.41777	2.894000	0.99253	0.591000	0.81541	CGG	MMP27	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_matrix_strom	ENSG00000137675		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	HGNC	protein_coding	OTTHUMT00000398128.1	249	0.00	0	G	NM_022122		102575419	102575419	-1	no_errors	ENST00000260229	ensembl	human	known	69_37n	missense	152	30.45	67	SNP	1.000	A
MMP3	4314	genome.wustl.edu	37	11	102709320	102709320	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:102709320C>A	ENST00000299855.5	-	8	1447	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	397					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATGTTTTGTTCTTTTCCTTAT	0.413																																						dbGAP											0													154.0	149.0	151.0					11																	102709320		2203	4299	6502	-	-	-	SO:0001583	missense	0			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.1191G>T	11.37:g.102709320C>A	ENSP00000299855:p.Lys397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.K397N	ENST00000299855.5	37	c.1191	CCDS8323.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.566|4.566	0.105078|0.105078	0.08731|0.08731	.|.	.|.	ENSG00000149968|ENSG00000149968	ENST00000299855|ENST00000434103	T|.	0.12147|.	2.71|.	5.07|5.07	2.16|2.16	0.27623|0.27623	Hemopexin/matrixin (2);|.	0.000000|.	0.34906|.	U|.	0.003600|.	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.17594|0.17594	0.5|0.5	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.12837|.	0.008|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.44086|.	T|.	0.13|.	.|.	5.3503|5.3503	0.16032|0.16032	0.0:0.5422:0.1432:0.3146|0.0:0.5422:0.1432:0.3146	.|.	397|.	P08254|.	MMP3_HUMAN|.	N|I	397|41	ENSP00000299855:K397N|.	ENSP00000299855:K397N|.	K|R	-|-	3|2	2|0	MMP3|MMP3	102214530|102214530	0.000000|0.000000	0.05858|0.05858	0.377000|0.377000	0.26055|0.26055	0.751000|0.751000	0.42716|0.42716	-0.202000|-0.202000	0.09451|0.09451	0.809000|0.809000	0.34255|0.34255	0.591000|0.591000	0.81541|0.81541	AAG|AGA	MMP3	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000149968		0.413	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	301	0.33	1	C	NM_002422		102709320	102709320	-1	no_errors	ENST00000299855	ensembl	human	known	69_37n	missense	233	13.38	36	SNP	0.000	A
MMRN1	22915	genome.wustl.edu	37	4	90856553	90856553	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:90856553T>G	ENST00000394980.1	+	7	2041	c.1722T>G	c.(1720-1722)atT>atG	p.I574M	MMRN1_ENST00000264790.2_Missense_Mutation_p.I574M|MMRN1_ENST00000508372.1_Missense_Mutation_p.I316M|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	574					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAGCAAGATTAACAATCTCA	0.343																																						dbGAP											0													61.0	63.0	63.0					4																	90856553		2202	4300	6502	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1722T>G	4.37:g.90856553T>G	ENSP00000378431:p.Ile574Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.I574M	ENST00000394980.1	37	c.1722	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796184	0.50208	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.74002	-0.48;-0.48;-0.8	5.12	-0.955	0.10356	.	0.257566	0.32430	N	0.006101	T	0.75072	0.3800	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.70949	-0.4733	10	0.66056	D	0.02	.	0.4164	0.00449	0.2831:0.2176:0.1229:0.3764	.	574	Q13201	MMRN1_HUMAN	M	574;574;316	ENSP00000378431:I574M;ENSP00000264790:I574M;ENSP00000426461:I316M	ENSP00000264790:I574M	I	+	3	3	MMRN1	91075576	0.985000	0.35326	0.963000	0.40424	0.940000	0.58332	-0.011000	0.12721	0.077000	0.16863	0.482000	0.46254	ATT	MMRN1	-	NULL	ENSG00000138722		0.343	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	64	0.00	0	T	NM_007351		90856553	90856553	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	17	45.16	14	SNP	0.986	G
MMS19	64210	genome.wustl.edu	37	10	99219884	99219884	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99219884C>T	ENST00000438925.2	-	26	2910	c.2575G>A	c.(2575-2577)Gaa>Aaa	p.E859K	MMS19_ENST00000327238.10_Missense_Mutation_p.E761K|MMS19_ENST00000327277.7_3'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.E859K|MMS19_ENST00000355839.6_Missense_Mutation_p.E816K	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	859					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ATCCGCACTTCGGCATGGCCA	0.562								Direct reversal of damage																														dbGAP											0													96.0	84.0	88.0					10																	99219884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2575G>A	10.37:g.99219884C>T	ENSP00000412698:p.Glu859Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.E859K	ENST00000438925.2	37	c.2575	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075862	0.76415	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839	T;T;T;T	0.66099	-0.12;-0.12;-0.19;-0.12	5.65	5.65	0.86999	Armadillo-type fold (1);	0.212023	0.48767	D	0.000177	T	0.46619	0.1402	N	0.22421	0.69	0.80722	D	1	B;P;P;B;B	0.50710	0.389;0.938;0.857;0.009;0.389	B;B;B;B;B	0.37267	0.033;0.245;0.105;0.004;0.033	T	0.44050	-0.9353	10	0.15499	T	0.54	.	19.7171	0.96127	0.0:1.0:0.0:0.0	.	880;761;816;859;816	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.;.;.;MMS19_HUMAN;.	K	859;859;761;838;816	ENSP00000412698:E859K;ENSP00000359818:E859K;ENSP00000320059:E761K;ENSP00000348097:E816K	ENSP00000320059:E761K	E	-	1	0	MMS19	99209874	1.000000	0.71417	0.940000	0.37924	0.926000	0.56050	4.459000	0.60102	2.665000	0.90641	0.591000	0.81541	GAA	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.562	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	131	0.00	0	C			99219884	99219884	-1	no_errors	ENST00000370782	ensembl	human	known	69_37n	missense	83	15.31	15	SNP	0.999	T
MMS19	64210	genome.wustl.edu	37	10	99229951	99229951	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99229951G>A	ENST00000438925.2	-	10	1116	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	MMS19_ENST00000355839.6_Missense_Mutation_p.P218S|MMS19_ENST00000370782.2_Missense_Mutation_p.P261S|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000327238.10_Missense_Mutation_p.P261S	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	261					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ATCAACAGGGGCAGCAGAAAC	0.493								Direct reversal of damage																														dbGAP											0													86.0	77.0	80.0					10																	99229951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.781C>T	10.37:g.99229951G>A	ENSP00000412698:p.Pro261Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold	p.P261S	ENST00000438925.2	37	c.781	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694932	0.88830	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000355839;ENST00000437002	T;T;T;T;T	0.66815	-0.23;-0.23;-0.13;-0.23;1.22	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.051517	0.85682	D	0.000000	D	0.82793	0.5114	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	T	0.81986	-0.0681	10	0.44086	T	0.13	.	19.3867	0.94560	0.0:0.0:1.0:0.0	.	282;261;261;218	B4DQX2;Q96T76-5;Q96T76;B4E2I3	.;.;MMS19_HUMAN;.	S	261;261;261;240;218;252	ENSP00000412698:P261S;ENSP00000359818:P261S;ENSP00000320059:P261S;ENSP00000348097:P218S;ENSP00000409425:P252S	ENSP00000320059:P261S	P	-	1	0	MMS19	99219941	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.923000	0.92808	2.680000	0.91292	0.655000	0.94253	CCC	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.493	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	183	0.00	0	G			99229951	99229951	-1	no_errors	ENST00000370782	ensembl	human	known	69_37n	missense	142	14.88	25	SNP	1.000	A
MNDA	4332	genome.wustl.edu	37	1	158811961	158811961	+	Missense_Mutation	SNP	G	G	T	rs564805681		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:158811961G>T	ENST00000368141.4	+	2	279	c.18G>T	c.(16-18)aaG>aaT	p.K6N	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	6	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATGAATACAAGAAAATTCTTT	0.303																																						dbGAP											0													58.0	59.0	59.0					1																	158811961		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.18G>T	1.37:g.158811961G>T	ENSP00000357123:p.Lys6Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K6N	ENST00000368141.4	37	c.18	CCDS1177.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955844	0.34471	.	.	ENSG00000163563	ENST00000368141	T	0.52754	0.65	3.51	1.55	0.23275	Pyrin (2);	.	.	.	.	T	0.44117	0.1278	M	0.66297	2.02	0.09310	N	1	D	0.63880	0.993	D	0.65874	0.939	T	0.23332	-1.0191	9	0.87932	D	0	-2.9577	4.3001	0.10920	0.1235:0.0:0.6534:0.2231	.	6	P41218	MNDA_HUMAN	N	6	ENSP00000357123:K6N	ENSP00000357123:K6N	K	+	3	2	MNDA	157078585	0.003000	0.15002	0.048000	0.18961	0.018000	0.09664	0.542000	0.23222	0.263000	0.21812	-0.319000	0.08680	AAG	MNDA	-	pfam_DAPIN,pfscan_DAPIN	ENSG00000163563		0.303	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	130	0.00	0	G	NM_002432		158811961	158811961	+1	no_errors	ENST00000368141	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	0.021	T
MNDA	4332	genome.wustl.edu	37	1	158815476	158815476	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:158815476A>C	ENST00000368141.4	+	5	931	c.670A>C	c.(670-672)Aaa>Caa	p.K224Q		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	224	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGCGCCATTTAAATACGAGTC	0.458																																						dbGAP											0													85.0	82.0	83.0					1																	158815476		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.670A>C	1.37:g.158815476A>C	ENSP00000357123:p.Lys224Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K224Q	ENST00000368141.4	37	c.670	CCDS1177.1	1	.	.	.	.	.	.	.	.	.	.	A	9.437	1.087028	0.20390	.	.	ENSG00000163563	ENST00000368141	T	0.14640	2.49	4.15	-0.379	0.12493	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.377447	0.19352	N	0.116378	T	0.02970	0.0088	L	0.34521	1.04	0.09310	N	1	P	0.39576	0.679	B	0.36030	0.216	T	0.36040	-0.9764	10	0.56958	D	0.05	-5.7947	6.7011	0.23225	0.5184:0.0:0.4816:0.0	.	224	P41218	MNDA_HUMAN	Q	224	ENSP00000357123:K224Q	ENSP00000357123:K224Q	K	+	1	0	MNDA	157082100	0.000000	0.05858	0.002000	0.10522	0.081000	0.17604	-0.916000	0.04029	-0.177000	0.10690	-0.408000	0.06270	AAA	MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163563		0.458	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	211	0.00	0	A	NM_002432		158815476	158815476	+1	no_errors	ENST00000368141	ensembl	human	known	69_37n	missense	190	14.03	31	SNP	0.014	C
MNS1	55329	genome.wustl.edu	37	15	56748602	56748602	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:56748602T>G	ENST00000260453.3	-	3	507	c.343A>C	c.(343-345)Aga>Cga	p.R115R		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	115	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTGTTTTCTCTTACTTGTTGC	0.323																																						dbGAP											0													180.0	163.0	169.0					15																	56748602		2191	4292	6483	-	-	-	SO:0001819	synonymous_variant	0			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.343A>C	15.37:g.56748602T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYT6|Q9NUP4	Silent	SNP	NULL	p.R115	ENST00000260453.3	37	c.343	CCDS10158.1	15																																																																																			MNS1	-	NULL	ENSG00000138587		0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	898	0.00	0	T	NM_018365		56748602	56748602	-1	no_errors	ENST00000260453	ensembl	human	known	69_37n	silent	562	29.09	231	SNP	1.000	G
MOB1A	55233	genome.wustl.edu	37	2	74399846	74399846	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74399846C>A	ENST00000396049.4	-	2	241	c.48G>T	c.(46-48)aaG>aaT	p.K16N	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Missense_Mutation_p.K16N	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	16					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										GGATATTCTTCTTTGGTTTGA	0.383																																						dbGAP											0													108.0	97.0	101.0					2																	74399846		1850	4099	5949	-	-	-	SO:0001583	missense	0				CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"""MOB kinase activators"""	16015	protein-coding gene	gene with protein product		609281	"""chromosome 2 open reading frame 6"", ""MOB1, Mps One Binder kinase activator-like 1B (yeast)"", ""MOB1 Mps One Binder homolog A (yeast)"""	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.48G>T	2.37:g.74399846C>A	ENSP00000379364:p.Lys16Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.K16N	ENST00000396049.4	37	c.48	CCDS46340.1	2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264299	0.59431	.	.	ENSG00000114978	ENST00000396049;ENST00000409969	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	M	0.86864	2.845	0.58432	D	0.999995	P;P	0.51791	0.948;0.865	P;B	0.48454	0.578;0.393	T	0.80023	-0.1556	9	0.66056	D	0.02	.	15.1418	0.72615	0.0:1.0:0.0:0.0	.	16;16	Q9H8S9-2;Q9H8S9	.;MOB1A_HUMAN	N	16	.	ENSP00000379364:K16N	K	-	3	2	MOBKL1B	74253354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.102000	0.50291	2.419000	0.82065	0.655000	0.94253	AAG	MOB1A	-	superfamily_Mob1_phocein	ENSG00000114978		0.383	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1A	HGNC	protein_coding	OTTHUMT00000328200.2	277	0.00	0	C	NM_018221		74399846	74399846	-1	no_errors	ENST00000396049	ensembl	human	known	69_37n	missense	168	21.50	46	SNP	1.000	A
MON1B	22879	genome.wustl.edu	37	16	77232019	77232019	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:77232019C>T	ENST00000248248.3	+	6	1808	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	SYCE1L_ENST00000378644.4_5'Flank|MON1B_ENST00000545553.1_Silent_p.F340F|MON1B_ENST00000439557.2_Silent_p.F377F	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	486								p.F486F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CCTCCAAATTCGAGCTCTATA	0.577																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											194.0	194.0	194.0					16																	77232019		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1458C>T	16.37:g.77232019C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDZ0|O94949	Silent	SNP	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.F486	ENST00000248248.3	37	c.1458	CCDS10925.1	16																																																																																			MON1B	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	ENSG00000103111		0.577	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	HGNC	protein_coding	OTTHUMT00000269036.2	237	0.00	0	C	NM_014940		77232019	77232019	+1	no_errors	ENST00000248248	ensembl	human	known	69_37n	silent	60	34.78	32	SNP	0.955	T
MON2	23041	genome.wustl.edu	37	12	62981870	62981870	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:62981870A>C	ENST00000393632.2	+	34	5315	c.4924A>C	c.(4924-4926)Att>Ctt	p.I1642L	MON2_ENST00000393630.3_Missense_Mutation_p.I1643L|MON2_ENST00000546600.1_Missense_Mutation_p.I1642L|MON2_ENST00000552738.1_Missense_Mutation_p.I1613L|MON2_ENST00000393629.2_Missense_Mutation_p.I1636L|MON2_ENST00000280379.6_Missense_Mutation_p.I1643L|MON2_ENST00000551397.1_Missense_Mutation_p.I16L	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1642					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGTAACAGAAATTATATTTGT	0.289																																						dbGAP											0													40.0	42.0	41.0					12																	62981870		2199	4289	6488	-	-	-	SO:0001583	missense	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4924A>C	12.37:g.62981870A>C	ENSP00000377252:p.Ile1642Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold	p.I1643L	ENST00000393632.2	37	c.4927	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701532	0.88924	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000551397	T;T;T;T;T;T	0.58940	0.51;0.51;0.3;0.3;0.48;0.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.46157	1.445	0.80722	D	1	B;P;B;B;P	0.48350	0.397;0.708;0.323;0.274;0.909	B;B;B;B;P	0.47705	0.085;0.269;0.116;0.19;0.555	T	0.57533	-0.7795	9	.	.	.	-12.1345	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1636;1613;1642;511;1642	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	L	1642;1643;1643;1642;1613;1636;16	ENSP00000377252:I1642L;ENSP00000377250:I1643L;ENSP00000280379:I1643L;ENSP00000447407:I1642L;ENSP00000449215:I1613L;ENSP00000377249:I1636L	.	I	+	1	0	MON2	61268137	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.195000	0.77798	2.147000	0.66899	0.533000	0.62120	ATT	MON2	-	NULL	ENSG00000061987		0.289	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	126	0.00	0	A	NM_015026		62981870	62981870	+1	no_errors	ENST00000393630	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	1.000	C
MORC1	27136	genome.wustl.edu	37	3	108754240	108754240	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:108754240G>T	ENST00000483760.1	-	15	1449	c.1406C>A	c.(1405-1407)tCt>tAt	p.S469Y	MORC1_ENST00000232603.5_Missense_Mutation_p.S469Y					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATATTGAAAAGAATTTAAAGG	0.318																																						dbGAP											0													105.0	100.0	101.0					3																	108754240		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1406C>A	3.37:g.108754240G>T	ENSP00000417282:p.Ser469Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S469Y	ENST00000483760.1	37	c.1406		3	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011617	0.19277	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06687	3.27;3.28	4.76	1.89	0.25635	.	0.616391	0.14660	N	0.306005	T	0.11623	0.0283	L	0.44542	1.39	0.09310	N	1	D;D	0.61080	0.989;0.966	P;P	0.53450	0.726;0.492	T	0.16335	-1.0406	10	0.72032	D	0.01	-0.0778	3.9018	0.09164	0.1994:0.0:0.6108:0.1898	.	469;469	E7ERX1;Q86VD1	.;MORC1_HUMAN	Y	469	ENSP00000232603:S469Y;ENSP00000417282:S469Y	ENSP00000232603:S469Y	S	-	2	0	MORC1	110236930	0.021000	0.18746	0.001000	0.08648	0.061000	0.15899	1.408000	0.34668	0.288000	0.22398	0.491000	0.48974	TCT	MORC1	-	NULL	ENSG00000114487		0.318	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	206	0.00	0	G			108754240	108754240	-1	no_errors	ENST00000232603	ensembl	human	known	69_37n	missense	176	11.56	23	SNP	0.001	T
MORC4	79710	genome.wustl.edu	37	X	106185940	106185940	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:106185940G>T	ENST00000355610.4	-	15	2455	c.2181C>A	c.(2179-2181)tcC>tcA	p.S727S	MORC4_ENST00000255495.7_Silent_p.S727S|MORC4_ENST00000535534.1_Silent_p.S475S	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	727						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTGGGTTCCAGGATTCAACTG	0.502																																						dbGAP											0													153.0	141.0	145.0					X																	106185940		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.2181C>A	X.37:g.106185940G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.S727	ENST00000355610.4	37	c.2181	CCDS14525.2	X																																																																																			MORC4	-	NULL	ENSG00000133131		0.502	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	695	0.29	2	G	NM_024657		106185940	106185940	-1	no_errors	ENST00000355610	ensembl	human	known	69_37n	silent	500	14.09	82	SNP	0.982	T
MORC4	79710	genome.wustl.edu	37	X	106224595	106224595	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:106224595C>A	ENST00000355610.4	-	6	1061	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	MORC4_ENST00000255495.7_Nonsense_Mutation_p.E263*|MORC4_ENST00000535534.1_Nonsense_Mutation_p.E11*	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	263						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TATTCTGTTTCTGGTAGCTCA	0.343																																						dbGAP											0													124.0	119.0	120.0					X																	106224595		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.787G>T	X.37:g.106224595C>A	ENSP00000347821:p.Glu263*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Nonsense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.E263*	ENST00000355610.4	37	c.787	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	C	44	10.705441	0.99453	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	.	.	.	4.81	4.81	0.61882	.	0.062472	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-15.7958	14.8087	0.69977	0.0:1.0:0.0:0.0	.	.	.	.	X	263;11;263	.	ENSP00000255495:E263X	E	-	1	0	MORC4	106111251	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.585000	0.60977	2.298000	0.77334	0.594000	0.82650	GAA	MORC4	-	superfamily_ATPase-like_ATP-bd	ENSG00000133131		0.343	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3	310	0.00	0	C	NM_024657		106224595	106224595	-1	no_errors	ENST00000355610	ensembl	human	known	69_37n	nonsense	167	23.04	50	SNP	1.000	A
MORF4L1	10933	genome.wustl.edu	37	15	79183337	79183337	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:79183337G>A	ENST00000331268.5	+	7	651	c.447G>A	c.(445-447)acG>acA	p.T149T	MORF4L1_ENST00000558502.1_Silent_p.T22T|MORF4L1_ENST00000558746.1_Silent_p.T83T|MORF4L1_ENST00000379535.4_Silent_p.T135T|MORF4L1_ENST00000426013.2_Silent_p.T110T|MORF4L1_ENST00000559345.1_Silent_p.T22T|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	149	Sufficient for interaction with SIN3A.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TTAGGAAAACGAAAAAGAACA	0.279																																						dbGAP											0													22.0	24.0	23.0					15																	79183337		2157	4256	6413	-	-	-	SO:0001819	synonymous_variant	0			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.447G>A	15.37:g.79183337G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG,pfam_Tudor-knot,superfamily_Chromodomain-like	p.R126Q	ENST00000331268.5	37	c.377	CCDS10307.1	15																																																																																			MORF4L1	-	superfamily_Chromodomain-like	ENSG00000185787		0.279	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	159	0.00	0	G	NM_006791		79183337	79183337	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000559751	ensembl	human	novel	69_37n	missense	104	23.53	32	SNP	0.648	A
MOV10L1	54456	genome.wustl.edu	37	22	50566920	50566920	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:50566920G>A	ENST00000262794.5	+	13	1977	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E612K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E632K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E632K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	632					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TATGGATGTGGAATTTACATA	0.303																																						dbGAP											0													55.0	60.0	58.0					22																	50566920		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1894G>A	22.37:g.50566920G>A	ENSP00000262794:p.Glu632Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E632K	ENST00000262794.5	37	c.1894	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248924	0.80024	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86297	-1.91;-1.91;-1.5;-2.1	5.38	4.3	0.51218	.	0.145699	0.64402	D	0.000010	D	0.90926	0.7148	M	0.63428	1.95	0.80722	D	1	D;D;D;P	0.71674	0.998;0.998;0.994;0.941	D;P;P;P	0.68192	0.956;0.876;0.874;0.656	D	0.88234	0.2905	10	0.21540	T	0.41	-39.7645	15.1741	0.72899	0.0:0.1417:0.8583:0.0	.	393;612;632;632	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	632;632;632;612	ENSP00000438978:E632K;ENSP00000262794:E632K;ENSP00000379199:E632K;ENSP00000438542:E612K	ENSP00000262794:E632K	E	+	1	0	MOV10L1	48909047	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.114000	0.64648	2.522000	0.85027	0.650000	0.86243	GAA	MOV10L1	-	NULL	ENSG00000073146		0.303	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	93	0.00	0	G	NM_018995		50566920	50566920	+1	no_errors	ENST00000262794	ensembl	human	known	69_37n	missense	93	14.68	16	SNP	1.000	A
MOXD1	26002	genome.wustl.edu	37	6	132695965	132695965	+	Intron	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:132695965A>G	ENST00000367963.3	-	2	383				MOXD1_ENST00000336749.3_Silent_p.F4F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ATACAGAGAGAAAAGAATTCA	0.343																																						dbGAP											0													41.0	41.0	41.0					6																	132695965		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.265-49T>C	6.37:g.132695965A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.F4	ENST00000367963.3	37	c.12	CCDS5152.2	6																																																																																			MOXD1	-	pfscan_DOMON_domain	ENSG00000079931		0.343	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	100	0.00	0	A	NM_015529		132695965	132695965	-1	no_errors	ENST00000336749	ensembl	human	putative	69_37n	silent	80	17.53	17	SNP	0.000	G
MPDZ	8777	genome.wustl.edu	37	9	13109041	13109041	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:13109041G>T	ENST00000319217.7	-	46	6207	c.5960C>A	c.(5959-5961)tCt>tAt	p.S1987Y	MPDZ_ENST00000447879.1_Missense_Mutation_p.S1954Y|MPDZ_ENST00000381022.2_Missense_Mutation_p.S1958Y|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1987Y|MPDZ_ENST00000541093.1_Missense_Mutation_p.S221Y|MPDZ_ENST00000546205.1_Missense_Mutation_p.S2001Y|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1925Y|MPDZ_ENST00000538841.1_Missense_Mutation_p.S846Y|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1958Y	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1987	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGTGTAATAGACTTACATTG	0.368																																						dbGAP											0													44.0	40.0	41.0					9																	13109041		1851	4091	5942	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5960C>A	9.37:g.13109041G>T	ENSP00000320006:p.Ser1987Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.S1987Y	ENST00000319217.7	37	c.5960		9	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529535	0.44969	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.44	5.44	0.79542	PDZ/DHR/GLGF (2);	0.342492	0.21377	N	0.075529	T	0.57051	0.2027	L	0.51422	1.61	0.38705	D	0.95308	D;P;P;D;P;D;P;P	0.60160	0.987;0.586;0.949;0.983;0.948;0.983;0.909;0.564	P;P;P;P;P;P;P;P	0.57960	0.83;0.516;0.74;0.739;0.765;0.739;0.683;0.516	T	0.59579	-0.7428	10	0.59425	D	0.04	.	19.6391	0.95749	0.0:0.0:1.0:0.0	.	1925;846;692;1954;1867;1958;1987;680	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	Y	1987;1958;1958;528;221;923;846;1925;1954;1987;1867;2001	ENSP00000320006:S1987Y;ENSP00000439807:S1958Y;ENSP00000370410:S1958Y;ENSP00000415964:S528Y;ENSP00000445259:S221Y;ENSP00000444230:S923Y;ENSP00000444717:S846Y;ENSP00000444151:S1925Y;ENSP00000415208:S1954Y;ENSP00000370403:S1987Y;ENSP00000446358:S2001Y	ENSP00000320006:S1987Y	S	-	2	0	MPDZ	13099041	1.000000	0.71417	0.942000	0.38095	0.523000	0.34469	4.748000	0.62148	2.715000	0.92844	0.655000	0.94253	TCT	MPDZ	-	superfamily_PDZ,pfscan_PDZ	ENSG00000107186		0.368	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	118	0.00	0	G	NM_003829		13109041	13109041	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	79	27.52	30	SNP	1.000	T
MPDZ	8777	genome.wustl.edu	37	9	13150579	13150579	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:13150579G>T	ENST00000319217.7	-	25	3808	c.3561C>A	c.(3559-3561)atC>atA	p.I1187I	MPDZ_ENST00000447879.1_Silent_p.I1187I|MPDZ_ENST00000381022.2_Silent_p.I1187I|MPDZ_ENST00000381015.4_Silent_p.I1187I|MPDZ_ENST00000546205.1_Silent_p.I1201I|MPDZ_ENST00000536827.1_Silent_p.I1187I|MPDZ_ENST00000538841.1_Silent_p.I79I|MPDZ_ENST00000541718.1_Silent_p.I1187I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1187	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GAACATGTTTGATGAAAATGC	0.463																																						dbGAP											0													156.0	154.0	155.0					9																	13150579		1898	4128	6026	-	-	-	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3561C>A	9.37:g.13150579G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.I1187	ENST00000319217.7	37	c.3561		9																																																																																			MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.463	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	280	0.00	0	G	NM_003829		13150579	13150579	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	silent	160	13.37	25	SNP	1.000	T
MPEG1	219972	genome.wustl.edu	37	11	58979275	58979275	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:58979275G>A	ENST00000361050.3	-	1	1149	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	355						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAAGTTGGGAGAATTGAGATC	0.498																																						dbGAP											0													95.0	92.0	93.0					11																	58979275		1928	4131	6059	-	-	-	SO:0001583	missense	0			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1064C>T	11.37:g.58979275G>A	ENSP00000354335:p.Ser355Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S355F	ENST00000361050.3	37	c.1064	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062162	0.55432	.	.	ENSG00000197629	ENST00000361050	T	0.32988	1.43	5.73	5.73	0.89815	.	0.065220	0.64402	D	0.000006	T	0.58977	0.2160	M	0.80183	2.485	0.52501	D	0.999957	D	0.89917	1.0	D	0.73380	0.98	T	0.62590	-0.6822	10	0.87932	D	0	-5.215	16.8192	0.85741	0.0:0.0:1.0:0.0	.	355	Q2M385	MPEG1_HUMAN	F	355	ENSP00000354335:S355F	ENSP00000354335:S355F	S	-	2	0	MPEG1	58735851	1.000000	0.71417	0.109000	0.21407	0.459000	0.32528	8.922000	0.92789	2.722000	0.93159	0.655000	0.94253	TCT	MPEG1	-	NULL	ENSG00000197629		0.498	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	220	0.00	0	G	NM_001039396		58979275	58979275	-1	no_errors	ENST00000361050	ensembl	human	known	69_37n	missense	132	20.96	35	SNP	0.934	A
MPHOSPH10	10199	genome.wustl.edu	37	2	71376534	71376534	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71376534C>T	ENST00000244230.2	+	10	2199	c.1847C>T	c.(1846-1848)tCg>tTg	p.S616L		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	616					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ACAGTAGCTTCGGAGAAGTTA	0.423																																						dbGAP											0													69.0	67.0	68.0					2																	71376534		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1847C>T	2.37:g.71376534C>T	ENSP00000244230:p.Ser616Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVJ8	Missense_Mutation	SNP	pfam_Mpp10,pirsf_snoRNP_Mpp10	p.S616L	ENST00000244230.2	37	c.1847	CCDS1916.1	2	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866757	0.32977	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.23348	1.91;1.91	5.75	4.88	0.63580	.	0.409870	0.24215	N	0.040493	T	0.19208	0.0461	L	0.41824	1.3	0.09310	N	1	B	0.24368	0.102	B	0.14578	0.011	T	0.13791	-1.0496	10	0.27785	T	0.31	.	9.17	0.37074	0.0:0.8357:0.0:0.1643	.	616	O00566	MPP10_HUMAN	L	616;476	ENSP00000244230:S616L;ENSP00000393034:S476L	ENSP00000244230:S616L	S	+	2	0	MPHOSPH10	71230042	0.010000	0.17322	0.006000	0.13384	0.061000	0.15899	2.196000	0.42686	1.591000	0.50007	-0.140000	0.14226	TCG	MPHOSPH10	-	pfam_Mpp10,pirsf_snoRNP_Mpp10	ENSG00000124383		0.423	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	HGNC	protein_coding	OTTHUMT00000251924.2	232	0.00	0	C	NM_005791		71376534	71376534	+1	no_errors	ENST00000244230	ensembl	human	known	69_37n	missense	173	10.82	21	SNP	0.014	T
MPHOSPH6	10200	genome.wustl.edu	37	16	82182999	82182999	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:82182999G>A	ENST00000258169.4	-	4	315	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.L60F	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	89					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TTCATCTGAAGCATCAATTTC	0.428																																						dbGAP											0													196.0	172.0	180.0					16																	82182999		2201	4300	6501	-	-	-	SO:0001583	missense	0			X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.265C>T	16.37:g.82182999G>A	ENSP00000258169:p.Leu89Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAF0	Missense_Mutation	SNP	pfam_MPP6	p.L89F	ENST00000258169.4	37	c.265	CCDS10937.1	16	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804413	0.31869	.	.	ENSG00000135698	ENST00000258169	T	0.47177	0.85	5.67	3.63	0.41609	.	0.789796	0.12250	N	0.485690	T	0.41811	0.1175	L	0.53249	1.67	0.80722	D	1	B	0.29212	0.237	B	0.30029	0.11	T	0.45086	-0.9285	10	0.51188	T	0.08	-3.0897	7.5212	0.27629	0.0:0.2298:0.4168:0.3534	.	89	Q99547	MPH6_HUMAN	F	89	ENSP00000258169:L89F	ENSP00000258169:L89F	L	-	1	0	MPHOSPH6	80740500	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	1.197000	0.32211	2.661000	0.90470	0.655000	0.94253	CTT	MPHOSPH6	-	pfam_MPP6	ENSG00000135698		0.428	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH6	HGNC	protein_coding	OTTHUMT00000269058.1	225	0.00	0	G	NM_005792		82182999	82182999	-1	no_errors	ENST00000258169	ensembl	human	known	69_37n	missense	95	26.92	35	SNP	1.000	A
MPHOSPH9	10198	genome.wustl.edu	37	12	123645713	123645713	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:123645713A>T	ENST00000606320.1	-	22	3557	c.3351T>A	c.(3349-3351)ttT>ttA	p.F1117L	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.F1087L|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.F965L|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.F965L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1117						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTTCATCAAAAAATCGTTCTG	0.348																																						dbGAP											0													72.0	69.0	70.0					12																	123645713		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3351T>A	12.37:g.123645713A>T	ENSP00000475489:p.Phe1117Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.F965L	ENST00000606320.1	37	c.2895		12	.	.	.	.	.	.	.	.	.	.	A	10.31	1.313859	0.23908	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.34472	1.36;2.01;1.85	5.58	4.41	0.53225	.	0.499777	0.20938	N	0.082967	T	0.19604	0.0471	L	0.29908	0.895	0.30004	N	0.815788	B	0.18013	0.025	B	0.14023	0.01	T	0.31530	-0.9940	10	0.02654	T	1	-23.3319	5.8033	0.18426	0.6007:0.257:0.1423:0.0	.	965	Q99550	MPP9_HUMAN	L	143;965;965	ENSP00000446362:F143L;ENSP00000303597:F965L;ENSP00000445859:F965L	ENSP00000303597:F965L	F	-	3	2	MPHOSPH9	122211666	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.663000	0.25053	0.924000	0.37069	0.460000	0.39030	TTT	MPHOSPH9	-	NULL	ENSG00000051825		0.348	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	156	0.00	0	A			123645713	123645713	-1	no_errors	ENST00000541076	ensembl	human	known	69_37n	missense	55	35.29	30	SNP	1.000	T
MPHOSPH9	10198	genome.wustl.edu	37	12	123686820	123686820	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:123686820G>T	ENST00000606320.1	-	11	2034	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L580I|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L458I|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L458I			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	610						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TAAGCTCGAAGATCTGCTATG	0.343																																						dbGAP											0													130.0	143.0	139.0					12																	123686820		2202	4299	6501	-	-	-	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1828C>A	12.37:g.123686820G>T	ENSP00000475489:p.Leu610Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.L458I	ENST00000606320.1	37	c.1372		12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211623	0.79240	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.53857	0.6;0.63	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.70046	0.3179	M	0.71581	2.175	0.49798	D	0.99982	D	0.89917	1.0	D	0.85130	0.997	T	0.72211	-0.4359	10	0.62326	D	0.03	-15.8049	12.5615	0.56283	0.0759:0.0:0.9241:0.0	.	458	Q99550	MPP9_HUMAN	I	458	ENSP00000303597:L458I;ENSP00000445859:L458I	ENSP00000303597:L458I	L	-	1	0	MPHOSPH9	122252773	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	5.185000	0.65076	2.541000	0.85698	0.455000	0.32223	CTT	MPHOSPH9	-	NULL	ENSG00000051825		0.343	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	130	0.00	0	G			123686820	123686820	-1	no_errors	ENST00000541076	ensembl	human	known	69_37n	missense	110	11.29	14	SNP	1.000	T
MPP5	64398	genome.wustl.edu	37	14	67790494	67790494	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:67790494C>T	ENST00000261681.4	+	14	2477	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R572W	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	606	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAAGACTTCGGGCATTATT	0.358																																						dbGAP											0													75.0	77.0	76.0					14																	67790494		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1816C>T	14.37:g.67790494C>T	ENSP00000261681:p.Arg606Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R606W	ENST00000261681.4	37	c.1816	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344830	0.61073	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.44083	0.93;0.93	5.64	5.64	0.86602	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.87269	2.87	0.80722	D	1	P	0.48162	0.906	P	0.48571	0.582	T	0.66850	-0.5819	10	0.87932	D	0	.	14.5439	0.68015	0.1464:0.8536:0.0:0.0	.	606	Q8N3R9	MPP5_HUMAN	W	606;572	ENSP00000261681:R606W;ENSP00000451488:R572W	ENSP00000261681:R606W	R	+	1	2	MPP5	66860247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.670000	0.54569	2.665000	0.90641	0.460000	0.39030	CGG	MPP5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000072415		0.358	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	193	0.52	1	C	NM_022474		67790494	67790494	+1	no_errors	ENST00000261681	ensembl	human	known	69_37n	missense	92	25.20	31	SNP	1.000	T
MPPED2	744	genome.wustl.edu	37	11	30517053	30517053	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:30517053T>C	ENST00000358117.5	-	3	448	c.326A>G	c.(325-327)gAa>gGa	p.E109G	MPPED2_ENST00000448418.2_Missense_Mutation_p.E109G	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	109					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TATTTTATATTCATATGGCAG	0.408																																						dbGAP											0													83.0	80.0	81.0					11																	30517053		2202	4299	6501	-	-	-	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.326A>G	11.37:g.30517053T>C	ENSP00000350833:p.Glu109Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.E109G	ENST00000358117.5	37	c.326	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	T	15.68	2.903934	0.52333	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.44083	0.93;0.93	5.61	5.61	0.85477	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.51914	1.62	0.80722	D	1	B;B	0.20671	0.01;0.047	B;B	0.23275	0.02;0.045	T	0.19095	-1.0316	10	0.39692	T	0.17	-11.1875	15.7959	0.78409	0.0:0.0:0.0:1.0	.	109;109	Q15777;E9PB10	MPPD2_HUMAN;.	G	109	ENSP00000388258:E109G;ENSP00000350833:E109G	ENSP00000350833:E109G	E	-	2	0	MPPED2	30473629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.134000	0.65973	0.533000	0.62120	GAA	MPPED2	-	pfam_Metallo_PEstase_dom	ENSG00000066382		0.408	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	179	0.00	0	T	NM_001584		30517053	30517053	-1	no_errors	ENST00000358117	ensembl	human	known	69_37n	missense	142	12.88	21	SNP	1.000	C
MR1	3140	genome.wustl.edu	37	1	181024396	181024396	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:181024396C>T	ENST00000367580.5	+	6	1026	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	MR1_ENST00000434571.2_Nonsense_Mutation_p.R214*|MR1_ENST00000282990.6_Nonsense_Mutation_p.R249*|MR1_ENST00000367579.3_Nonsense_Mutation_p.R296*|MR1_ENST00000438435.2_3'UTR	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	341					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	AACACCAGATCGATGATTGCA	0.443																																					Colon(174;1412 1962 45296 46549 47110)	dbGAP											0													247.0	215.0	226.0					1																	181024396		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.1021C>T	1.37:g.181024396C>T	ENSP00000356552:p.Arg341*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like	p.R341*	ENST00000367580.5	37	c.1021	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658295	0.29425	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	.	.	.	3.95	-0.535	0.11879	.	1.916530	0.03000	N	0.148064	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.0285	0.01533	0.1818:0.4271:0.1774:0.2137	.	.	.	.	X	214;341;249;296	.	ENSP00000282990:R249X	R	+	1	2	MR1	179291019	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.089000	0.15002	0.097000	0.17492	-0.302000	0.09304	CGA	MR1	-	NULL	ENSG00000153029		0.443	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2	283	0.00	0	C	NM_001531		181024396	181024396	+1	no_errors	ENST00000367580	ensembl	human	known	69_37n	nonsense	278	18.71	64	SNP	0.000	T
MRAP	56246	genome.wustl.edu	37	21	33671320	33671320	+	Missense_Mutation	SNP	G	G	T	rs367739120		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33671320G>T	ENST00000399784.2	+	3	225	c.38G>T	c.(37-39)aGc>aTc	p.S13I	MRAP_ENST00000339944.4_Missense_Mutation_p.S13I|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Missense_Mutation_p.S13I|MRAP_ENST00000399786.3_Missense_Mutation_p.S13I	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	13					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						CCATACTACAGCTATGAATAC	0.597																																						dbGAP											0													125.0	86.0	99.0					21																	33671320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.38G>T	21.37:g.33671320G>T	ENSP00000382684:p.Ser13Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Missense_Mutation	SNP	NULL	p.S13I	ENST00000399784.2	37	c.38	CCDS13613.1	21	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811190	0.70797	.	.	ENSG00000170262	ENST00000399784;ENST00000399786;ENST00000303645;ENST00000339944	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.12	3.14	0.36123	.	0.378699	0.23100	N	0.051928	D	0.83459	0.5259	L	0.43923	1.385	0.27817	N	0.941929	B;P	0.39157	0.192;0.662	B;B	0.43301	0.063;0.415	T	0.77197	-0.2676	10	0.52906	T	0.07	-4.7313	9.681	0.40070	0.0:0.0:0.6218:0.3782	.	13;13	Q8TCY5-2;Q8TCY5	.;MRAP_HUMAN	I	13	ENSP00000382684:S13I;ENSP00000382686:S13I;ENSP00000306697:S13I;ENSP00000343661:S13I	ENSP00000306697:S13I	S	+	2	0	MRAP	32593191	0.895000	0.30542	0.819000	0.32651	0.944000	0.59088	1.182000	0.32029	1.098000	0.41479	0.655000	0.94253	AGC	MRAP	-	NULL	ENSG00000170262		0.597	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000193092.1	162	0.00	0	G	NM_178817		33671320	33671320	+1	no_errors	ENST00000303645	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	0.738	T
MRAS	22808	genome.wustl.edu	37	3	138119420	138119420	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:138119420C>A	ENST00000289104.4	+	5	1139	c.492C>A	c.(490-492)gtC>gtA	p.V164V	MRAS_ENST00000464896.1_Silent_p.V88V|MRAS_ENST00000423968.2_Silent_p.V164V|MRAS_ENST00000474559.1_Silent_p.V164V	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	164					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTCTCAATGTCGACAAAGCCT	0.532																																						dbGAP											0													245.0	216.0	226.0					3																	138119420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.492C>A	3.37:g.138119420C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK0|Q86WX8	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_ProtSyn_GTP-bd,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V164	ENST00000289104.4	37	c.492	CCDS3100.1	3																																																																																			MRAS	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000158186		0.532	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	315	0.00	0	C			138119420	138119420	+1	no_errors	ENST00000289104	ensembl	human	known	69_37n	silent	207	10.34	24	SNP	0.032	A
MRGPRX3	117195	genome.wustl.edu	37	11	18159302	18159302	+	Missense_Mutation	SNP	G	G	T	rs369169253		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18159302G>T	ENST00000396275.2	+	3	914	c.553G>T	c.(553-555)Gtt>Ttt	p.V185F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGCGTGGCTGGTTTTTTTATG	0.507																																						dbGAP											0													152.0	140.0	144.0					11																	18159302		2200	4293	6493	-	-	-	SO:0001583	missense	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.553G>T	11.37:g.18159302G>T	ENSP00000379571:p.Val185Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V185F	ENST00000396275.2	37	c.553	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	G	4.136	0.023502	0.08006	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.29655	1.56;1.56	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	0.829666	0.10717	N	0.642177	T	0.09730	0.0239	N	0.02697	-0.525	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.17592	-1.0364	10	0.52906	T	0.07	.	0.0884	0.00038	0.3278:0.2413:0.1917:0.2392	.	185	Q96LB0	MRGX3_HUMAN	F	185	ENSP00000379571:V185F;ENSP00000436242:V185F	ENSP00000379571:V185F	V	+	1	0	MRGPRX3	18115878	0.019000	0.18553	0.000000	0.03702	0.004000	0.04260	-0.667000	0.05274	-1.575000	0.01655	-0.864000	0.03007	GTT	MRGPRX3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179826		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	376	0.26	1	G	NM_054031		18159302	18159302	+1	no_errors	ENST00000396275	ensembl	human	known	69_37n	missense	252	12.50	36	SNP	0.003	T
MRGPRX2	117194	genome.wustl.edu	37	11	19077870	19077870	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:19077870C>A	ENST00000329773.2	-	2	167	c.80G>T	c.(79-81)gGc>gTc	p.G27V		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	27					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGTCTCCTTGCCACAAAGCAG	0.557																																					GBM(198;1966 2199 4849 37227 49954)	dbGAP											0													175.0	187.0	183.0					11																	19077870		2199	4293	6492	-	-	-	SO:0001583	missense	0				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.80G>T	11.37:g.19077870C>A	ENSP00000333800:p.Gly27Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.G27V	ENST00000329773.2	37	c.80	CCDS7847.1	11	.	.	.	.	.	.	.	.	.	.	.	4.290	0.053013	0.08291	.	.	ENSG00000183695	ENST00000329773	T	0.06218	3.33	5.04	-10.1	0.00402	.	4.454950	0.00357	N	0.000032	T	0.03477	0.0100	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33752	-0.9856	10	0.17369	T	0.5	.	3.343	0.07126	0.5066:0.2628:0.0983:0.1323	.	27	Q96LB1	MRGX2_HUMAN	V	27	ENSP00000333800:G27V	ENSP00000333800:G27V	G	-	2	0	MRGPRX2	19034446	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.768000	0.01794	-2.859000	0.00328	-0.136000	0.14681	GGC	MRGPRX2	-	NULL	ENSG00000183695		0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX2	HGNC	protein_coding	OTTHUMT00000387819.1	81	0.00	0	C	NM_054030		19077870	19077870	-1	no_errors	ENST00000329773	ensembl	human	known	69_37n	missense	33	24.44	11	SNP	0.000	A
MRO	83876	genome.wustl.edu	37	18	48327795	48327795	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:48327795A>C	ENST00000428869.2	-	7	767	c.509T>G	c.(508-510)tTt>tGt	p.F170C	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.F184C|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.F170C|MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Missense_Mutation_p.F170C			Q9BYG7	MSTRO_HUMAN	maestro	170						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ACTGGTGAAAAATTTTTTCCA	0.478																																						dbGAP											0													154.0	152.0	153.0					18																	48327795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.509T>G	18.37:g.48327795A>C	ENSP00000409509:p.Phe170Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F184C	ENST00000428869.2	37	c.551	CCDS11947.1	18	.	.	.	.	.	.	.	.	.	.	A	16.98	3.271761	0.59649	.	.	ENSG00000134042	ENST00000436348;ENST00000398439;ENST00000256425	T;T;T	0.13901	2.55;2.57;2.57	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.40886	0.1135	M	0.87269	2.87	0.40155	D	0.97699	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.40979	-0.9534	10	0.39692	T	0.17	-35.5825	12.3363	0.55069	1.0:0.0:0.0:0.0	.	184;170	E9PAT5;Q9BYG7	.;MSTRO_HUMAN	C	184;170;170	ENSP00000397900:F184C;ENSP00000381465:F170C;ENSP00000256425:F170C	ENSP00000256425:F170C	F	-	2	0	MRO	46581793	1.000000	0.71417	0.981000	0.43875	0.495000	0.33615	2.962000	0.49176	2.165000	0.68154	0.528000	0.53228	TTT	MRO	-	superfamily_ARM-type_fold	ENSG00000134042		0.478	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MRO	HGNC	protein_coding	OTTHUMT00000449478.2	382	0.26	1	A	NM_031939		48327795	48327795	-1	no_errors	ENST00000436348	ensembl	human	known	69_37n	missense	374	13.02	56	SNP	0.999	C
MRO	83876	genome.wustl.edu	37	18	48331618	48331618	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:48331618T>A	ENST00000428869.2	-	6	593	c.335A>T	c.(334-336)aAg>aTg	p.K112M	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000436348.2_Missense_Mutation_p.K126M|MRO_ENST00000588444.1_Missense_Mutation_p.K112M|MRO_ENST00000398439.3_Missense_Mutation_p.K112M|MRO_ENST00000431965.2_Missense_Mutation_p.K126M|MRO_ENST00000256425.2_Missense_Mutation_p.K112M			Q9BYG7	MSTRO_HUMAN	maestro	112						nucleolus (GO:0005730)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GGTCAGAGTCTTCATACTCTC	0.453																																						dbGAP											0													126.0	109.0	114.0					18																	48331618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.335A>T	18.37:g.48331618T>A	ENSP00000409509:p.Lys112Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K126M	ENST00000428869.2	37	c.377	CCDS11947.1	18	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989457	0.74589	.	.	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.67171	-0.18;-0.25;1.37;1.37;1.37	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.183733	0.38605	N	0.001633	D	0.82370	0.5022	M	0.84948	2.725	0.41174	D	0.98618	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.991;0.987	D	0.84423	0.0572	10	0.51188	T	0.08	-28.1813	12.3497	0.55141	0.0:0.0:0.0:1.0	.	112;126;126;112	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	M	126;126;112;112;112	ENSP00000397900:K126M;ENSP00000392614:K126M;ENSP00000409509:K112M;ENSP00000381465:K112M;ENSP00000256425:K112M	ENSP00000256425:K112M	K	-	2	0	MRO	46585616	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	2.475000	0.45162	2.177000	0.69029	0.455000	0.32223	AAG	MRO	-	superfamily_ARM-type_fold	ENSG00000134042		0.453	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MRO	HGNC	protein_coding	OTTHUMT00000449478.2	169	0.00	0	T	NM_031939		48331618	48331618	-1	no_errors	ENST00000436348	ensembl	human	known	69_37n	missense	158	12.22	22	SNP	1.000	A
MRPL10	124995	genome.wustl.edu	37	17	45908747	45908747	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:45908747G>A	ENST00000351111.2	-	1	58				MRPL10_ENST00000290208.7_5'Flank|MRPL10_ENST00000414011.1_Intron|LRRC46_ENST00000269025.4_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10						ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						attatgggaagaatcagtagt	0.582											OREG0024501	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.52+78C>T	17.37:g.45908747G>A		Somatic	935	WXS	Illumina GAIIx	Phase_IV	A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	NULL	p.S44F	ENST00000351111.2	37	c.131	CCDS11516.1	17																																																																																			MRPL10	-	NULL	ENSG00000159111		0.582	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	HGNC	protein_coding	OTTHUMT00000343764.1	84	0.00	0	G	NM_145255		45908747	45908747	-1	no_errors	ENST00000421763	ensembl	human	known	69_37n	missense	57	18.57	13	SNP	0.000	A
MRPL16	54948	genome.wustl.edu	37	11	59574021	59574021	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59574021G>A	ENST00000300151.4	-	4	768	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	185					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CCTTTGCTGCGAAGGGCAACT	0.517																																						dbGAP											0													154.0	145.0	148.0					11																	59574021		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.555C>T	11.37:g.59574021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BYD0|Q9HB70	Silent	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16	p.F185	ENST00000300151.4	37	c.555	CCDS7976.1	11																																																																																			MRPL16	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16	ENSG00000166902		0.517	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL16	HGNC	protein_coding	OTTHUMT00000394521.1	206	0.00	0	G	NM_017840		59574021	59574021	-1	no_errors	ENST00000300151	ensembl	human	known	69_37n	silent	158	17.71	34	SNP	1.000	A
MRPL2	51069	genome.wustl.edu	37	6	43023887	43023887	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:43023887A>C	ENST00000388752.3	-	4	876	c.452T>G	c.(451-453)aTc>aGc	p.I151S	CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000230413.5_Missense_Mutation_p.I151S|CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	151					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGTGGCGATGATCCAGCGTTT	0.547																																						dbGAP											0													145.0	131.0	136.0					6																	43023887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.452T>G	6.37:g.43023887A>C	ENSP00000373404:p.Ile151Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like	p.I151S	ENST00000388752.3	37	c.452	CCDS34454.1	6	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672353	0.88348	.	.	ENSG00000112651	ENST00000388752;ENST00000230413	T	0.59364	0.27	5.7	5.7	0.88788	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	0.999;1.0	D	0.89621	0.3848	10	0.87932	D	0	-18.7172	14.5373	0.67969	1.0:0.0:0.0:0.0	.	151;151	B4DVE2;Q5T653	.;RM02_HUMAN	S	151	ENSP00000373404:I151S	ENSP00000230413:I151S	I	-	2	0	MRPL2	43131865	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.910000	0.92685	2.170000	0.68504	0.533000	0.62120	ATC	MRPL2	-	pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold-like	ENSG00000112651		0.547	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL2	HGNC	protein_coding	OTTHUMT00000040577.2	227	0.44	1	A			43023887	43023887	-1	no_errors	ENST00000388752	ensembl	human	known	69_37n	missense	173	24.35	56	SNP	1.000	C
MRPL47	57129	genome.wustl.edu	37	3	179306713	179306713	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:179306713G>T	ENST00000476781.1	-	7	729	c.700C>A	c.(700-702)Ctt>Att	p.L234I	MRPL47_ENST00000392659.2_Missense_Mutation_p.L124I|MRPL47_ENST00000259038.2_Missense_Mutation_p.L214I	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	234					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.L234I(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTTTTTAAAAGAATTTTTGCT	0.338																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											67.0	73.0	71.0					3																	179306713		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.700C>A	3.37:g.179306713G>T	ENSP00000417602:p.Leu234Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6XRG1|Q8N5D1	Missense_Mutation	SNP	pfam_Ribosomal_L47_mit	p.L234I	ENST00000476781.1	37	c.700	CCDS3232.1	3	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255462	0.22965	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.61859	0.86;1.01;0.07	5.56	4.69	0.59074	.	0.000000	0.64402	D	0.000002	T	0.61590	0.2359	M	0.73217	2.22	0.21105	N	0.99979	P;P	0.50369	0.934;0.646	P;P	0.52217	0.693;0.497	T	0.56697	-0.7936	10	0.37606	T	0.19	-12.5997	5.4634	0.16630	0.2033:0.1597:0.637:0.0	.	214;234	Q9HD33-2;Q9HD33	.;RM47_HUMAN	I	234;214;124	ENSP00000417602:L234I;ENSP00000259038:L214I;ENSP00000376427:L124I	ENSP00000259038:L214I	L	-	1	0	MRPL47	180789407	1.000000	0.71417	0.331000	0.25455	0.094000	0.18550	2.131000	0.42074	1.490000	0.48466	0.591000	0.81541	CTT	MRPL47	-	NULL	ENSG00000136522		0.338	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL47	HGNC	protein_coding	OTTHUMT00000349623.1	99	0.00	0	G	NM_020409		179306713	179306713	-1	no_errors	ENST00000476781	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	0.162	T
MRPL48	51642	genome.wustl.edu	37	11	73555979	73555979	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:73555979T>C	ENST00000310614.7	+	5	985	c.329T>C	c.(328-330)gTt>gCt	p.V110A	MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Missense_Mutation_p.V92A|MRPL48_ENST00000314282.7_Missense_Mutation_p.V11A|MRPL48_ENST00000411840.2_Missense_Mutation_p.V11A|MRPL48_ENST00000398483.3_Missense_Mutation_p.V11A	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	110						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GCCCAGTATGTTCACAACCTC	0.408																																						dbGAP											0													100.0	93.0	95.0					11																	73555979		1872	4103	5975	-	-	-	SO:0001583	missense	0			AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.329T>C	11.37:g.73555979T>C	ENSP00000308717:p.Val110Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Missense_Mutation	SNP	pfam_Ribosomal_S10,superfamily_Ribosomal_S10	p.V110A	ENST00000310614.7	37	c.329	CCDS44676.1	11	.	.	.	.	.	.	.	.	.	.	T	24.2	4.510139	0.85282	.	.	ENSG00000175581	ENST00000310614;ENST00000535529;ENST00000411840;ENST00000535277;ENST00000398483;ENST00000537007;ENST00000314282	T	0.56103	0.48	5.53	5.53	0.82687	.	0.301155	0.36167	N	0.002747	T	0.55481	0.1923	L	0.52011	1.625	0.45852	D	0.998714	B;D	0.55800	0.395;0.973	P;P	0.51516	0.456;0.672	T	0.51387	-0.8712	10	0.22706	T	0.39	-11.9932	13.6031	0.62031	0.0:0.0:0.0:1.0	.	92;110	B4DN34;Q96GC5	.;RM48_HUMAN	A	110;92;11;11;11;11;11	ENSP00000308717:V110A	ENSP00000308717:V110A	V	+	2	0	MRPL48	73233627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.449000	0.73473	2.101000	0.63845	0.482000	0.46254	GTT	MRPL48	-	pfam_Ribosomal_S10,superfamily_Ribosomal_S10	ENSG00000175581		0.408	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL48	HGNC	protein_coding	OTTHUMT00000397733.1	340	0.00	0	T	NM_016055		73555979	73555979	+1	no_errors	ENST00000310614	ensembl	human	known	69_37n	missense	277	24.52	90	SNP	1.000	C
MRPL51	51258	genome.wustl.edu	37	12	6601583	6601583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6601583G>A	ENST00000229238.3	-	3	702	c.241C>T	c.(241-243)Cga>Tga	p.R81*	MRPL51_ENST00000543703.1_5'UTR|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	81					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TTCCAACCTCGAAGCCATATG	0.433																																						dbGAP											0													271.0	278.0	276.0					12																	6601583		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.241C>T	12.37:g.6601583G>A	ENSP00000229238:p.Arg81*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96Q57|Q9BQ36|Q9P0N7	Nonsense_Mutation	SNP	pfam_Ribosomal_L51_mit	p.R81*	ENST00000229238.3	37	c.241	CCDS8547.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.128884	0.98081	.	.	ENSG00000111639	ENST00000229238	.	.	.	5.32	3.21	0.36854	.	0.055227	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7674	14.2062	0.65737	0.0:0.0:0.6286:0.3714	.	.	.	.	X	81	.	ENSP00000229238:R81X	R	-	1	2	MRPL51	6471844	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.936000	0.40183	1.167000	0.42706	0.462000	0.41574	CGA	MRPL51	-	pfam_Ribosomal_L51_mit	ENSG00000111639		0.433	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL51	HGNC	protein_coding	OTTHUMT00000399956.1	261	0.38	1	G	NM_016497		6601583	6601583	-1	no_errors	ENST00000229238	ensembl	human	known	69_37n	nonsense	150	20.00	38	SNP	0.999	A
MRPS27	23107	genome.wustl.edu	37	5	71519558	71519558	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71519558G>A	ENST00000261413.5	-	10	996	c.957C>T	c.(955-957)atC>atT	p.I319I	MRPS27_ENST00000513900.1_Silent_p.I333I|MRPS27_ENST00000457646.4_Silent_p.I263I|MRPS27_ENST00000522562.1_5'Flank	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	319						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTGTTTCCTCGATGTCTAACT	0.478																																						dbGAP											0													218.0	198.0	205.0					5																	71519558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.957C>T	5.37:g.71519558G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRT2|Q6P1S1	Silent	SNP	pfam_Ribosomal_S27_mit	p.I333	ENST00000261413.5	37	c.999	CCDS4013.1	5																																																																																			MRPS27	-	pfam_Ribosomal_S27_mit	ENSG00000113048		0.478	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	476	0.21	1	G	NM_015084		71519558	71519558	-1	no_errors	ENST00000513900	ensembl	human	known	69_37n	silent	248	24.92	83	SNP	0.000	A
MRPS27	23107	genome.wustl.edu	37	5	71528382	71528382	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:71528382G>T	ENST00000261413.5	-	7	518	c.479C>A	c.(478-480)gCt>gAt	p.A160D	MRPS27_ENST00000513900.1_Missense_Mutation_p.A174D|MRPS27_ENST00000515404.1_Missense_Mutation_p.A104D|MRPS27_ENST00000457646.4_Missense_Mutation_p.A104D|MRPS27_ENST00000522562.1_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	160						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CACAGATAAAGCATCTAGCAG	0.368																																						dbGAP											0													69.0	69.0	69.0					5																	71528382		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.479C>A	5.37:g.71528382G>T	ENSP00000261413:p.Ala160Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRT2|Q6P1S1	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit	p.A174D	ENST00000261413.5	37	c.521	CCDS4013.1	5	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031898	0.93575	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.81088	-0.1091	10	0.87932	D	0	-5.5315	20.6282	0.99521	0.0:0.0:1.0:0.0	.	174;104;160	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	D	160;104;174;104;104	ENSP00000261413:A160D;ENSP00000428120:A104D;ENSP00000426941:A174D;ENSP00000426176:A104D;ENSP00000427237:A104D	ENSP00000261413:A160D	A	-	2	0	MRPS27	71564138	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.571000	0.90752	2.871000	0.98454	0.655000	0.94253	GCT	MRPS27	-	pfam_Ribosomal_S27_mit	ENSG00000113048		0.368	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	204	0.00	0	G	NM_015084		71528382	71528382	-1	no_errors	ENST00000513900	ensembl	human	known	69_37n	missense	140	11.95	19	SNP	1.000	T
MS4A2	2206	genome.wustl.edu	37	11	59863031	59863031	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59863031G>A	ENST00000278888.3	+	7	739	c.637G>A	c.(637-639)Gtt>Att	p.V213I		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	213					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.V213F(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CCCTTATCAGGTTCCAGAGGA	0.388																																						dbGAP											1	Substitution - Missense(1)	lung(1)											124.0	120.0	121.0					11																	59863031		2201	4295	6496	-	-	-	SO:0001630	splice_region_variant	0			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.637-1G>A	11.37:g.59863031G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q54A81	Missense_Mutation	SNP	pfam_CD20-like	p.V213I	ENST00000278888.3	37	c.637	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755803	0.15846	.	.	ENSG00000149534	ENST00000278888	T	0.21031	2.03	4.79	0.421	0.16451	.	0.658624	0.12937	N	0.426927	T	0.08358	0.0208	N	0.11201	0.11	0.26765	N	0.969919	B	0.21753	0.06	B	0.17098	0.017	T	0.35301	-0.9794	9	.	.	.	-10.6111	3.3626	0.07192	0.4689:0.2173:0.3138:0.0	.	213	Q01362	FCERB_HUMAN	I	213	ENSP00000278888:V213I	.	V	+	1	0	MS4A2	59619607	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.545000	0.23268	0.077000	0.16863	0.655000	0.94253	GTT	MS4A2	-	NULL	ENSG00000149534		0.388	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	316	0.00	0	G		Missense_Mutation	59863031	59863031	+1	no_errors	ENST00000278888	ensembl	human	known	69_37n	missense	290	26.58	105	SNP	0.998	A
MS4A2	2206	genome.wustl.edu	37	11	59863121	59863121	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59863121G>T	ENST00000278888.3	+	7	829	c.727G>T	c.(727-729)Gat>Tat	p.D243Y		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	243					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCTCCCATTGATTTATAAGA	0.423																																						dbGAP											0													97.0	95.0	96.0					11																	59863121		2201	4295	6496	-	-	-	SO:0001583	missense	0			M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.727G>T	11.37:g.59863121G>T	ENSP00000278888:p.Asp243Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q54A81	Missense_Mutation	SNP	pfam_CD20-like	p.D243Y	ENST00000278888.3	37	c.727	CCDS7980.1	11	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362438	0.41902	.	.	ENSG00000149534	ENST00000278888	T	0.28666	1.6	4.79	2.95	0.34219	.	1.331230	0.05262	N	0.515891	T	0.39358	0.1075	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	P	0.57283	0.817	T	0.24404	-1.0161	10	0.87932	D	0	-0.3292	7.2771	0.26290	0.1926:0.0:0.8074:0.0	.	243	Q01362	FCERB_HUMAN	Y	243	ENSP00000278888:D243Y	ENSP00000278888:D243Y	D	+	1	0	MS4A2	59619697	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	1.065000	0.30592	0.955000	0.37878	0.655000	0.94253	GAT	MS4A2	-	NULL	ENSG00000149534		0.423	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A2	HGNC	protein_coding	OTTHUMT00000393844.1	258	0.39	1	G			59863121	59863121	+1	no_errors	ENST00000278888	ensembl	human	known	69_37n	missense	227	20.91	60	SNP	0.001	T
MS4A7	58475	genome.wustl.edu	37	11	60157008	60157008	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:60157008C>T	ENST00000300184.3	+	5	681	c.485C>T	c.(484-486)tCg>tTg	p.S162L	MS4A7_ENST00000534016.1_Missense_Mutation_p.S117L|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.S117L	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	162						integral component of membrane (GO:0016021)		p.S162L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTGCCTTATTCGGAGTACTAT	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											134.0	123.0	127.0					11																	60157008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.485C>T	11.37:g.60157008C>T	ENSP00000300184:p.Ser162Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP53|Q6IAG8	Missense_Mutation	SNP	pfam_CD20-like	p.S162L	ENST00000300184.3	37	c.485	CCDS7985.1	11	.	.	.	.	.	.	.	.	.	.	C	7.397	0.632037	0.14322	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34	3.69	1.74	0.24563	.	1.738880	0.03964	N	0.290529	T	0.02304	0.0071	N	0.20483	0.58	0.09310	N	0.999995	B;B;B	0.22211	0.066;0.054;0.066	B;B;B	0.23716	0.048;0.019;0.04	T	0.46428	-0.9192	10	0.10111	T	0.7	-6.4453	4.5669	0.12191	0.0:0.6409:0.2294:0.1296	.	117;117;162	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	L	162;117;117;117;98	ENSP00000300184:S162L;ENSP00000350983:S117L;ENSP00000434637:S117L;ENSP00000433861:S117L;ENSP00000434819:S98L	ENSP00000300184:S162L	S	+	2	0	MS4A7	59913584	0.000000	0.05858	0.039000	0.18376	0.712000	0.41017	-0.260000	0.08708	0.506000	0.28125	0.563000	0.77884	TCG	MS4A7	-	pfam_CD20-like	ENSG00000166927		0.433	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A7	HGNC	protein_coding	OTTHUMT00000394299.1	218	0.00	0	C			60157008	60157008	+1	no_errors	ENST00000300184	ensembl	human	known	69_37n	missense	157	25.12	53	SNP	0.054	T
MSANTD3	91283	genome.wustl.edu	37	9	103204383	103204383	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:103204383G>A	ENST00000395067.2	+	2	434	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MSANTD3_ENST00000374885.1_Missense_Mutation_p.E55K|MSANTD3-TMEFF1_ENST00000502978.1_5'Flank|TMEFF1_ENST00000334943.6_5'Flank	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1	Q96H12	MSD3_HUMAN	Myb/SANT-like DNA-binding domain containing 3	55	Myb-like.									endometrium(2)|lung(2)	4						GCTGGCCCACGAATACAACTC	0.488																																						dbGAP											0													40.0	41.0	41.0					9																	103204383		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008993	CCDS6749.1, CCDS56579.1	9q31.1	2012-03-13	2012-03-13	2012-03-13	ENSG00000066697	ENSG00000066697			23370	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 30"""	C9orf30			Standard	NM_080655		Approved	MGC17337		Q96H12	OTTHUMG00000020365	ENST00000395067.2:c.163G>A	9.37:g.103204383G>A	ENSP00000378506:p.Glu55Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC35|Q5T726|Q5T727|Q5T728	Missense_Mutation	SNP	NULL	p.E55K	ENST00000395067.2	37	c.163	CCDS6749.1	9	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777851	0.90195	.	.	ENSG00000066697	ENST00000395067;ENST00000398977;ENST00000374885;ENST00000374886	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	T	0.60353	0.2262	L	0.42632	1.34	0.47819	D	0.999521	P	0.50710	0.938	P	0.51487	0.671	T	0.51132	-0.8744	8	0.12766	T	0.61	-7.2694	19.1066	0.93299	0.0:0.0:1.0:0.0	.	55	Q96H12	CI030_HUMAN	K	55	.	ENSP00000364020:E55K	E	+	1	0	C9orf30	102244204	1.000000	0.71417	0.716000	0.30569	0.905000	0.53344	6.774000	0.75012	2.775000	0.95449	0.650000	0.86243	GAA	MSANTD3	-	NULL	ENSG00000066697		0.488	MSANTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD3	HGNC	protein_coding	OTTHUMT00000053410.1	92	0.00	0	G	NM_080655		103204383	103204383	+1	no_errors	ENST00000395067	ensembl	human	known	69_37n	missense	54	24.66	18	SNP	0.975	A
MSANTD4	84437	genome.wustl.edu	37	11	105881328	105881328	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:105881328G>A	ENST00000301919.4	-	2	1732	c.317C>T	c.(316-318)tCt>tTt	p.S106F	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	106						nucleus (GO:0005634)											TTCAGTGAGAGAGTCATCCAA	0.438																																						dbGAP											0													158.0	154.0	156.0					11																	105881328		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.317C>T	11.37:g.105881328G>A	ENSP00000304713:p.Ser106Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.S106F	ENST00000301919.4	37	c.317	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879631	0.72294	.	.	ENSG00000170903	ENST00000301919;ENST00000530788;ENST00000534458	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.54323	1.7	0.58432	D	0.999998	D	0.55605	0.972	D	0.69142	0.962	T	0.76911	-0.2784	9	0.72032	D	0.01	-8.8681	20.2139	0.98290	0.0:0.0:1.0:0.0	.	106	Q8NCY6	K1826_HUMAN	F	106	.	ENSP00000304713:S106F	S	-	2	0	KIAA1826	105386538	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.178000	0.89690	2.782000	0.95742	0.561000	0.74099	TCT	MSANTD4	-	NULL	ENSG00000170903		0.438	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	669	0.15	1	G	NM_032424		105881328	105881328	-1	no_errors	ENST00000301919	ensembl	human	known	69_37n	missense	431	13.43	67	SNP	1.000	A
MSH5	4439	genome.wustl.edu	37	6	31728555	31728555	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:31728555G>A	ENST00000375755.3	+	20	2187	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	MSH5-SAPCD1_ENST00000491552.1_3'UTR|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.R634Q|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375742.3_Missense_Mutation_p.R651Q|MSH5_ENST00000375740.3_Missense_Mutation_p.R651Q|MSH5_ENST00000431848.2_Missense_Mutation_p.R333Q|MSH5_ENST00000375703.3_Missense_Mutation_p.R634Q|MSH5_ENST00000395853.1_Missense_Mutation_p.R308Q|MSH5_ENST00000534153.4_Missense_Mutation_p.R651Q|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.R651Q	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	634					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.R634Q(1)|p.R20Q(1)		breast(1)|ovary(2)|skin(2)	5						ATCTTCACACGAATTCATAGC	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														dbGAP											2	Substitution - Missense(2)	large_intestine(2)											107.0	83.0	91.0					6																	31728555		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1901G>A	6.37:g.31728555G>A	ENSP00000364908:p.Arg634Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R651Q	ENST00000375755.3	37	c.1952	CCDS4720.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.402383	0.96030	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000491552	D;D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.73	4.86	0.63082	DNA mismatch repair protein MutS, C-terminal (2);	0.061993	0.64402	N	0.000003	D	0.96583	0.8885	H	0.95294	3.65	0.43714	D	0.996185	D;D;D;D;D	0.89917	0.997;0.997;0.998;0.999;1.0	P;P;D;D;D	0.85130	0.893;0.868;0.939;0.977;0.997	D	0.97732	1.0203	9	0.72032	D	0.01	-16.5066	12.4325	0.55581	0.081:0.0:0.919:0.0	.	319;651;634;634;651	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	Q	634;651;166;634;651;634;651;333;308;20	ENSP00000364908:R634Q;ENSP00000364894:R651Q;ENSP00000364903:R634Q;ENSP00000431693:R651Q;ENSP00000364855:R634Q;ENSP00000364892:R651Q;ENSP00000416784:R333Q;ENSP00000379194:R308Q	ENSP00000364855:R634Q	R	+	2	0	MSH5;MSH5-C6orf26	31836534	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.148000	0.77389	1.435000	0.47434	-0.218000	0.12543	CGA	MSH5	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C	ENSG00000204410		0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	HGNC	protein_coding	OTTHUMT00000076243.4	8	0.00	0	G			31728555	31728555	+1	no_errors	ENST00000375742	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	A
MSH6	2956	genome.wustl.edu	37	2	48027886	48027886	+	Nonsense_Mutation	SNP	C	C	T	rs587779247|rs587779246		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:48027886C>T	ENST00000234420.5	+	4	2916	c.2764C>T	c.(2764-2766)Cga>Tga	p.R922*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.R620*|MSH6_ENST00000540021.1_Nonsense_Mutation_p.R792*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	922					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAAAGGCTCGAAAGACTGG	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											64.0	65.0	65.0					2																	48027886		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2764C>T	2.37:g.48027886C>T	ENSP00000234420:p.Arg922*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.R922*	ENST00000234420.5	37	c.2764	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	C	45	11.729910	0.99596	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	.	.	.	5.79	2.88	0.33553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2813	14.8251	0.70104	0.3763:0.6236:0.0:0.0	.	.	.	.	X	922;920;792;620	.	ENSP00000234420:R922X	R	+	1	2	MSH6	47881390	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	2.571000	0.45990	0.295000	0.22570	0.563000	0.77884	CGA	MSH6	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	221	0.00	0	C	NM_000179		48027886	48027886	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	nonsense	141	29.50	59	SNP	0.999	T
MSMP	692094	genome.wustl.edu	37	9	35753261	35753261	+	Missense_Mutation	SNP	C	C	T	rs182933098		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:35753261C>T	ENST00000436428.2	-	3	395	c.256G>A	c.(256-258)Gac>Aac	p.D86N	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	86						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GCCGGGAAGTCGATGGGATGC	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18353	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	46.0	45.0					9																	35753261		2162	4256	6418	-	-	-	SO:0001583	missense	0			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.256G>A	9.37:g.35753261C>T	ENSP00000419194:p.Asp86Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PSP94	p.D86N	ENST00000436428.2	37	c.256	CCDS43797.1	9	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.18	3.324668	0.60634	.	.	ENSG00000215183	ENST00000436428	T	0.07688	3.17	5.67	5.67	0.87782	.	0.000000	0.35040	U	0.003481	T	0.25938	0.0632	L	0.50333	1.59	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.00099	-1.2068	10	0.39692	T	0.17	-0.9885	19.77	0.96359	0.0:1.0:0.0:0.0	.	86	Q1L6U9	MSMP_HUMAN	N	86	ENSP00000419194:D86N	ENSP00000419194:D86N	D	-	1	0	MSMP	35743261	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	6.487000	0.73633	2.664000	0.90586	0.561000	0.74099	GAC	MSMP	-	pfam_PSP94	ENSG00000215183		0.587	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMP	HGNC	protein_coding	OTTHUMT00000052384.2	101	0.00	0	C	NM_001044264		35753261	35753261	-1	no_errors	ENST00000436428	ensembl	human	known	69_37n	missense	60	15.28	11	SNP	1.000	T
MSRB3	253827	genome.wustl.edu	37	12	65720625	65720625	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:65720625G>T	ENST00000355192.3	+	2	243	c.117G>T	c.(115-117)aaG>aaT	p.K39N	MSRB3_ENST00000535664.1_Missense_Mutation_p.K32N|MSRB3_ENST00000308259.5_Missense_Mutation_p.K32N|MSRB3_ENST00000540804.1_Missense_Mutation_p.K39N	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	39					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GGGATAAAAAGAACTGTAAGG	0.483																																						dbGAP											0													50.0	51.0	50.0					12																	65720625		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.117G>T	12.37:g.65720625G>T	ENSP00000347324:p.Lys39Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR19|B7ZAQ0|Q6UXS2	Nonsense_Mutation	SNP	pfam_Methionine_sulphoxide_MsrB,superfamily_Mss4-like,tigrfam_Methionine_sulphoxide_MsrB	p.E48*	ENST00000355192.3	37	c.142	CCDS8973.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.011628|3.011628	0.54468|0.54468	.|.	.|.	ENSG00000174099|ENSG00000174099	ENST00000541189|ENST00000355192;ENST00000308259;ENST00000540804;ENST00000535664;ENST00000538045;ENST00000535239	.|T;T;T;T;T;T	.|0.65364	.|-0.13;-0.15;-0.13;-0.15;-0.14;-0.13	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Methionine sulphoxide reductase B (1);	.|0.330452	.|0.33916	.|N	.|0.004437	.|T	.|0.53834	.|0.1821	N|N	0.08118|0.08118	0|0	0.49299|0.49299	D|D	0.999778|0.999778	.|D;D	.|0.65815	.|0.995;0.985	.|P;P	.|0.58660	.|0.797;0.843	.|T	.|0.53563	.|-0.8421	.|9	.|.	.|.	.|.	-0.979|-0.979	10.8727|10.8727	0.46894|0.46894	0.1463:0.0:0.8537:0.0|0.1463:0.0:0.8537:0.0	.|.	.|39;32	.|Q8IXL7;Q8IXL7-2	.|MSRB3_HUMAN;.	X|N	48|39;32;39;32;32;32	.|ENSP00000347324:K39N;ENSP00000312274:K32N;ENSP00000437623:K39N;ENSP00000441650:K32N;ENSP00000442620:K32N;ENSP00000445843:K32N	.|.	E|K	+|+	1|3	0|2	MSRB3|MSRB3	64006892|64006892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.059000|6.059000	0.71133|0.71133	2.567000|2.567000	0.86603|0.86603	0.455000|0.455000	0.32223|0.32223	GAA|AAG	MSRB3	-	NULL	ENSG00000174099		0.483	MSRB3-001	KNOWN	basic|CCDS	protein_coding	MSRB3	HGNC	protein_coding	OTTHUMT00000401421.1	280	0.00	0	G	NM_198080		65720625	65720625	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000541189	ensembl	human	putative	69_37n	nonsense	146	13.61	23	SNP	1.000	T
MTDH	92140	genome.wustl.edu	37	8	98731394	98731394	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:98731394G>A	ENST00000336273.3	+	10	1826	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	MTDH_ENST00000519934.1_Missense_Mutation_p.E444K	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	500					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGATCCAGCCGAAGTACTCGT	0.433																																						dbGAP											0													77.0	82.0	81.0					8																	98731394		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1498G>A	8.37:g.98731394G>A	ENSP00000338235:p.Glu500Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	NULL	p.E500K	ENST00000336273.3	37	c.1498	CCDS6274.1	8	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389740	0.42410	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.44482	0.92;0.94	5.83	4.95	0.65309	.	0.351810	0.32231	N	0.006386	T	0.22244	0.0536	N	0.12182	0.205	0.36135	D	0.846407	B	0.13145	0.007	B	0.11329	0.006	T	0.20240	-1.0281	10	0.15066	T	0.55	-7.3471	9.612	0.39668	0.1457:0.0:0.8543:0.0	.	500	Q86UE4	LYRIC_HUMAN	K	500;444	ENSP00000338235:E500K;ENSP00000428168:E444K	ENSP00000338235:E500K	E	+	1	0	MTDH	98800570	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.344000	0.52174	2.749000	0.94314	0.655000	0.94253	GAA	MTDH	-	NULL	ENSG00000147649		0.433	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTDH	HGNC	protein_coding	OTTHUMT00000379772.2	124	0.00	0	G			98731394	98731394	+1	no_errors	ENST00000336273	ensembl	human	known	69_37n	missense	79	32.48	38	SNP	1.000	A
MTF1	4520	genome.wustl.edu	37	1	38301355	38301355	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:38301355G>A	ENST00000373036.4	-	5	981	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	281					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTGTACGAACGTGAGTT	0.408																																						dbGAP											0													129.0	104.0	113.0					1																	38301355		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.841C>T	1.37:g.38301355G>A	ENSP00000362127:p.Arg281Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R281C	ENST00000373036.4	37	c.841	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483815	0.84854	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.25749	1.78	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.59150	-0.7508	10	0.87932	D	0	.	13.4114	0.60944	0.0:0.0:0.743:0.257	.	281	Q14872	MTF1_HUMAN	C	281;149	ENSP00000362127:R281C	ENSP00000362127:R281C	R	-	1	0	MTF1	38073942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.240000	0.58701	2.857000	0.98124	0.650000	0.86243	CGT	MTF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188786		0.408	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	325	0.00	0	G	NM_005955		38301355	38301355	-1	no_errors	ENST00000373036	ensembl	human	known	69_37n	missense	231	11.74	31	SNP	1.000	A
MTF1	4520	genome.wustl.edu	37	1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:38304324C>T	ENST00000373036.4	-	4	892	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	251					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R251Q(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											161.0	137.0	145.0					1																	38304324		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.752G>A	1.37:g.38304324C>T	ENSP00000362127:p.Arg251Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R251Q	ENST00000373036.4	37	c.752	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.746101	0.96882	.	.	ENSG00000188786	ENST00000373036;ENST00000543396	T	0.24723	1.84	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.70903	2.155	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.55438	-0.8141	10	0.72032	D	0.01	.	19.1431	0.93452	0.0:1.0:0.0:0.0	.	251	Q14872	MTF1_HUMAN	Q	251;119	ENSP00000362127:R251Q	ENSP00000362127:R251Q	R	-	2	0	MTF1	38076911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.641000	0.83368	2.590000	0.87494	0.563000	0.77884	CGA	MTF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188786		0.438	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	319	0.00	0	C	NM_005955		38304324	38304324	-1	no_errors	ENST00000373036	ensembl	human	known	69_37n	missense	190	27.20	71	SNP	1.000	T
MTF2	22823	genome.wustl.edu	37	1	93584984	93584984	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:93584984G>T	ENST00000370298.4	+	8	1086				MTF2_ENST00000471953.1_Intron|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000545708.1_Intron|MTF2_ENST00000370303.4_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2						chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TCTGTTAAAAGAAAGAAAAGC	0.323																																						dbGAP											0													33.0	33.0	33.0					1																	93584984		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.797+26G>T	1.37:g.93584984G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	RNA	SNP	-	NULL	ENST00000370298.4	37	NULL	CCDS742.1	1																																																																																			MTF2	-	-	ENSG00000143033		0.323	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	215	0.46	1	G	NM_007358		93584984	93584984	+1	no_errors	ENST00000468457	ensembl	human	known	69_37n	rna	130	15.03	23	SNP	0.000	T
MTM1	4534	genome.wustl.edu	37	X	149764986	149764986	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:149764986G>T	ENST00000370396.2	+	3	142	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	30	GRAM.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAATCGAGATCTCACTGA	0.428																																						dbGAP											0													144.0	113.0	123.0					X																	149764986		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.88G>T	X.37:g.149764986G>T	ENSP00000359423:p.Asp30Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.D30Y	ENST00000370396.2	37	c.88	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530457	0.64860	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.96265	-3.92;-3.64;-3.96	5.68	5.68	0.88126	GRAM (1);	0.414762	0.28187	N	0.016277	D	0.95617	0.8575	L	0.29908	0.895	0.80722	D	1	P;P	0.48911	0.917;0.917	P;P	0.53266	0.722;0.722	D	0.96190	0.9137	10	0.62326	D	0.03	.	17.424	0.87522	0.0:0.0:1.0:0.0	.	30;30	B7Z491;Q13496	.;MTM1_HUMAN	Y	30	ENSP00000359423:D30Y;ENSP00000400699:D30Y;ENSP00000389157:D30Y	ENSP00000359423:D30Y	D	+	1	0	MTM1	149515644	1.000000	0.71417	0.027000	0.17364	0.736000	0.42039	5.796000	0.69080	2.383000	0.81215	0.538000	0.68166	GAT	MTM1	-	smart_GRAM	ENSG00000171100		0.428	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	502	0.20	1	G	NM_000252		149764986	149764986	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	missense	248	13.29	38	SNP	0.396	T
MTM1	4534	genome.wustl.edu	37	X	149765019	149765019	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:149765019G>T	ENST00000370396.2	+	3	175	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000413012.2_Nonsense_Mutation_p.E41*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	41	GRAM.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCCAGGAGAAACACTAAT	0.453																																						dbGAP											0													129.0	99.0	109.0					X																	149765019		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.121G>T	X.37:g.149765019G>T	ENSP00000359423:p.Glu41*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.E41*	ENST00000370396.2	37	c.121	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146944	0.77888	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1652	0.86814	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000359423:E41X	E	+	1	0	MTM1	149515677	1.000000	0.71417	0.933000	0.37362	0.566000	0.35808	5.796000	0.69080	2.318000	0.78349	0.538000	0.68166	GAA	MTM1	-	pfam_GRAM,smart_GRAM	ENSG00000171100		0.453	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	356	0.00	0	G	NM_000252		149765019	149765019	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	nonsense	163	27.23	61	SNP	0.998	T
MTM1	4534	genome.wustl.edu	37	X	149814260	149814260	+	Silent	SNP	C	C	T	rs187394611		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:149814260C>T	ENST00000370396.2	+	9	837	c.783C>T	c.(781-783)ctC>ctT	p.L261L	MTM1_ENST00000542741.1_Silent_p.L166L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.L146L|MTM1_ENST00000413012.2_Silent_p.L224L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	261	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATATCTCGATGTTATCA	0.408													C|||	1	0.000264901	0.0	0.0	3775	,	,		14780	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													166.0	139.0	148.0					X																	149814260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.783C>T	X.37:g.149814260C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.L261	ENST00000370396.2	37	c.783	CCDS14694.1	X																																																																																			MTM1	-	pfam_Myotub-related	ENSG00000171100		0.408	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	633	0.00	0	C	NM_000252		149814260	149814260	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	silent	302	25.80	105	SNP	0.012	T
MTM1	4534	genome.wustl.edu	37	X	149828868	149828868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:149828868G>T	ENST00000370396.2	+	13	1432	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*	MTM1_ENST00000542741.1_Nonsense_Mutation_p.E365*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.E345*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.E423*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	460	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGAATTCAATGAACAATTTTT	0.313																																						dbGAP											0													94.0	85.0	88.0					X																	149828868		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1378G>T	X.37:g.149828868G>T	ENSP00000359423:p.Glu460*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.E460*	ENST00000370396.2	37	c.1378	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.680702	0.98428	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7194	0.91687	0.0:0.0:1.0:0.0	.	.	.	.	X	460;365;345;423	.	ENSP00000359423:E460X	E	+	1	0	MTM1	149579526	1.000000	0.71417	0.965000	0.40720	0.934000	0.57294	9.428000	0.97476	2.366000	0.80165	0.600000	0.82982	GAA	MTM1	-	smart_Tyr_Pase_cat	ENSG00000171100		0.313	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	351	0.00	0	G	NM_000252		149828868	149828868	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	nonsense	218	15.83	41	SNP	1.000	T
MTMR4	9110	genome.wustl.edu	37	17	56570220	56570220	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:56570220C>A	ENST00000323456.5	-	17	3428	c.3304G>T	c.(3304-3306)Gat>Tat	p.D1102Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.D1045Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1102					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTTCTTATCAACAGGTTCC	0.438																																						dbGAP											0													190.0	150.0	164.0					17																	56570220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3304G>T	17.37:g.56570220C>A	ENSP00000325285:p.Asp1102Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.D1102Y	ENST00000323456.5	37	c.3304	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736608	0.89482	.	.	ENSG00000108389	ENST00000323456	D	0.94184	-3.37	5.84	5.84	0.93424	.	0.095110	0.64402	D	0.000001	D	0.95570	0.8560	L	0.48362	1.52	0.54753	D	0.999988	D	0.89917	1.0	D	0.72625	0.978	D	0.95687	0.8737	10	0.87932	D	0	.	19.116	0.93340	0.0:1.0:0.0:0.0	.	1102	Q9NYA4	MTMR4_HUMAN	Y	1102	ENSP00000325285:D1102Y	ENSP00000325285:D1102Y	D	-	1	0	MTMR4	53925219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.768000	0.95171	0.561000	0.74099	GAT	MTMR4	-	NULL	ENSG00000108389		0.438	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	215	0.00	0	C	NM_004687		56570220	56570220	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	missense	152	15.08	27	SNP	1.000	A
MTMR7	9108	genome.wustl.edu	37	8	17230640	17230640	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:17230640C>A	ENST00000180173.5	-	2	168	c.134G>T	c.(133-135)aGa>aTa	p.R45I	MTMR7_ENST00000521857.1_Missense_Mutation_p.R45I	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	45					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGTTTCTTTTCTTGGGTCAGG	0.408																																						dbGAP											0													80.0	76.0	78.0					8																	17230640		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.134G>T	8.37:g.17230640C>A	ENSP00000180173:p.Arg45Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.R45I	ENST00000180173.5	37	c.134	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725263	0.68959	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.81996	-1.56;-1.56	5.46	5.46	0.80206	.	0.046724	0.85682	D	0.000000	D	0.87966	0.6311	M	0.83012	2.62	0.80722	D	1	P	0.49783	0.928	P	0.48030	0.564	D	0.87903	0.2692	10	0.41790	T	0.15	.	19.6884	0.95987	0.0:1.0:0.0:0.0	.	45	Q9Y216	MTMR7_HUMAN	I	45	ENSP00000180173:R45I;ENSP00000429733:R45I	ENSP00000180173:R45I	R	-	2	0	MTMR7	17275011	1.000000	0.71417	0.961000	0.40146	0.228000	0.25075	5.451000	0.66632	2.739000	0.93911	0.563000	0.77884	AGA	MTMR7	-	NULL	ENSG00000003987		0.408	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	246	0.00	0	C	NM_004686		17230640	17230640	-1	no_errors	ENST00000180173	ensembl	human	known	69_37n	missense	232	24.92	77	SNP	0.984	A
ASB12	142689	genome.wustl.edu	37	X	63445286	63445286	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:63445286G>T	ENST00000396130.2	-	1	217	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	MTMR8_ENST00000453546.1_Missense_Mutation_p.S457Y|ASB12_ENST00000362002.2_Missense_Mutation_p.S82Y			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	73					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GTGGCCATAAGAAGCAGCCAA	0.522																																						dbGAP											2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											64.0	46.0	52.0					X																	63445286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.218C>A	X.37:g.63445286G>T	ENSP00000379435:p.Ser73Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S457Y	ENST00000396130.2	37	c.1370		X	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694074	0.68386	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.66099	-0.19;-0.19;-0.19	3.56	3.56	0.40772	Ankyrin repeat-containing domain (4);	0.180408	0.49305	D	0.000145	T	0.49762	0.1576	N	0.10809	0.05	0.28430	N	0.917291	P;P	0.41131	0.739;0.739	P;B	0.48952	0.596;0.438	T	0.44636	-0.9315	10	0.17832	T	0.49	-21.9104	13.443	0.61125	0.0:0.0:1.0:0.0	.	457;73	B4DQL0;Q8WXK4	.;ASB12_HUMAN	Y	82;73;82;457	ENSP00000355195:S82Y;ENSP00000379435:S73Y;ENSP00000394003:S457Y	ENSP00000354626:S82Y	S	-	2	0	ASB12;MTMR8	63362011	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	4.823000	0.62694	1.781000	0.52344	0.529000	0.55759	TCT	MTMR8	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000102043		0.522	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	MTMR8	HGNC	protein_coding		356	0.00	0	G			63445286	63445286	-1	no_errors	ENST00000453546	ensembl	human	known	69_37n	missense	280	17.40	59	SNP	1.000	T
MTMR9	66036	genome.wustl.edu	37	8	11172547	11172547	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:11172547G>A	ENST00000221086.3	+	7	1560	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	MTMR9_ENST00000526292.1_Missense_Mutation_p.A278T|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	363	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TGGTTTTGAGGCCCTGATTGA	0.483																																						dbGAP											0													172.0	151.0	158.0					8																	11172547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1087G>A	8.37:g.11172547G>A	ENSP00000221086:p.Ala363Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotub-related	p.A363T	ENST00000221086.3	37	c.1087	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938302	0.73557	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.93366	-3.21;-3.21	5.05	5.05	0.67936	Myotubularin phosphatase domain (1);	0.284656	0.39083	N	0.001479	D	0.89681	0.6785	L	0.39245	1.2	0.46542	D	0.999097	B	0.23377	0.084	B	0.26416	0.069	D	0.86292	0.1674	10	0.44086	T	0.13	.	12.3247	0.55003	0.0:0.0:0.7226:0.2774	.	363	Q96QG7	MTMR9_HUMAN	T	363;278	ENSP00000221086:A363T;ENSP00000433239:A278T	ENSP00000221086:A363T	A	+	1	0	MTMR9	11209957	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.971000	0.40530	2.610000	0.88304	0.563000	0.77884	GCC	MTMR9	-	NULL	ENSG00000104643		0.483	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	315	0.00	0	G	NM_015458		11172547	11172547	+1	no_errors	ENST00000221086	ensembl	human	known	69_37n	missense	230	11.20	29	SNP	1.000	A
MTO1	25821	genome.wustl.edu	37	6	74176270	74176270	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:74176270T>C	ENST00000370300.4	+	3	566	c.476T>C	c.(475-477)aTt>aCt	p.I159T	RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000498286.1_Missense_Mutation_p.I159T|MTO1_ENST00000370305.1_Missense_Mutation_p.I85T|MTO1_ENST00000518210.1_3'UTR|MTO1_ENST00000415954.2_Missense_Mutation_p.I159T	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	159					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GAAGATCTTATTCTTACAGAA	0.398																																						dbGAP											0													153.0	137.0	142.0					6																	74176270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.476T>C	6.37:g.74176270T>C	ENSP00000359323:p.Ile159Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.I159T	ENST00000370300.4	37	c.476	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463626	0.63513	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.68	5.68	0.88126	.	0.135184	0.49305	D	0.000153	T	0.55689	0.1936	L	0.37897	1.145	0.35448	D	0.795433	B;B;B	0.28082	0.2;0.07;0.143	B;B;B	0.32211	0.087;0.087;0.142	T	0.55360	-0.8153	10	0.13853	T	0.58	-13.6254	14.7804	0.69764	0.0:0.0:0.0:1.0	.	159;159;159	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	T	159;159;159;85;159	ENSP00000402038:I159T;ENSP00000419561:I159T;ENSP00000359328:I85T;ENSP00000359323:I159T	ENSP00000350506:I159T	I	+	2	0	MTO1	74232991	0.985000	0.35326	0.231000	0.23993	0.939000	0.58152	6.538000	0.73852	2.289000	0.77006	0.477000	0.44152	ATT	MTO1	-	pfam_GIDA-rel,tigrfam_GidA	ENSG00000135297		0.398	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	570	0.00	0	T	NM_012123		74176270	74176270	+1	no_errors	ENST00000415954	ensembl	human	known	69_37n	missense	522	26.13	185	SNP	0.898	C
MTOR	2475	genome.wustl.edu	37	1	11273599	11273599	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:11273599T>G	ENST00000361445.4	-	21	3218	c.3142A>C	c.(3142-3144)Att>Ctt	p.I1048L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1048					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTGCTCTGAATTGAGGTGTTC	0.458																																						dbGAP											0													100.0	100.0	100.0					1																	11273599		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3142A>C	1.37:g.11273599T>G	ENSP00000354558:p.Ile1048Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I1048L	ENST00000361445.4	37	c.3142	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	T	8.358	0.832524	0.16820	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64618	-0.11	5.78	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.052248	0.85682	D	0.000000	T	0.25680	0.0625	N	0.00621	-1.32	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34527	-0.9825	10	0.02654	T	1	-15.3407	11.8672	0.52501	0.0:0.0685:0.0:0.9315	.	1048	P42345	MTOR_HUMAN	L	1048	ENSP00000354558:I1048L	ENSP00000354558:I1048L	I	-	1	0	MTOR	11196186	1.000000	0.71417	0.971000	0.41717	0.987000	0.75469	7.569000	0.82380	0.995000	0.38917	0.533000	0.62120	ATT	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.458	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	110	0.00	0	T	NM_004958		11273599	11273599	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	84	27.59	32	SNP	0.996	G
MTTP	4547	genome.wustl.edu	37	4	100521834	100521834	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:100521834C>A	ENST00000265517.5	+	9	1383	c.1180C>A	c.(1180-1182)Ctc>Atc	p.L394I	MTTP_ENST00000457717.1_Missense_Mutation_p.L394I|MTTP_ENST00000511045.1_Missense_Mutation_p.L421I|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	394	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGAGAGGTTTCTCTATGCCTG	0.423																																						dbGAP											0													80.0	81.0	81.0					4																	100521834		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1180C>A	4.37:g.100521834C>A	ENSP00000265517:p.Leu394Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L394I	ENST00000265517.5	37	c.1180	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508359	0.64410	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.71579	-0.58;-0.58;-0.58	4.86	4.86	0.63082	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.79475	2.455	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81854	-0.0741	10	0.38643	T	0.18	-30.871	11.5047	0.50459	0.0:0.9176:0.0:0.0824	.	421;394	E9PBP6;P55157	.;MTP_HUMAN	I	421;394;394;394	ENSP00000427679:L421I;ENSP00000400821:L394I;ENSP00000265517:L394I	ENSP00000265517:L394I	L	+	1	0	MTTP	100740857	1.000000	0.71417	0.999000	0.59377	0.475000	0.33008	5.635000	0.67841	2.217000	0.71921	0.655000	0.94253	CTC	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000138823		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	218	0.00	0	C			100521834	100521834	+1	no_errors	ENST00000265517	ensembl	human	known	69_37n	missense	130	16.03	25	SNP	1.000	A
MTUS1	57509	genome.wustl.edu	37	8	17613055	17613055	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:17613055C>T	ENST00000262102.6	-	2	486	c.262G>A	c.(262-264)Gat>Aat	p.D88N	MTUS1_ENST00000381862.3_Missense_Mutation_p.D88N|MTUS1_ENST00000381869.3_Missense_Mutation_p.D88N|MTUS1_ENST00000519263.1_Missense_Mutation_p.D88N	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	88					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTAATGAAATCACTAGAAGAC	0.383																																						dbGAP											0													113.0	104.0	107.0					8																	17613055		1858	4090	5948	-	-	-	SO:0001583	missense	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.262G>A	8.37:g.17613055C>T	ENSP00000262102:p.Asp88Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin/RR-like	p.D88N	ENST00000262102.6	37	c.262	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	c	12.08	1.831546	0.32329	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.24538	2.82;2.82;2.82;1.85	3.98	3.1	0.35709	.	0.391146	0.20750	N	0.086362	T	0.15003	0.0362	N	0.14661	0.345	0.23685	N	0.997111	B;B;B	0.27498	0.18;0.019;0.019	B;B;B	0.29176	0.099;0.01;0.01	T	0.19192	-1.0313	10	0.87932	D	0	-10.4206	8.3035	0.32027	0.0:0.8057:0.0:0.1943	.	88;88;88	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	N	88	ENSP00000371293:D88N;ENSP00000262102:D88N;ENSP00000430167:D88N;ENSP00000371286:D88N	ENSP00000262102:D88N	D	-	1	0	MTUS1	17657335	0.269000	0.24143	0.669000	0.29828	0.021000	0.10359	1.624000	0.37018	1.250000	0.43966	0.558000	0.71614	GAT	MTUS1	-	NULL	ENSG00000129422		0.383	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	144	0.00	0	C	XM_372031		17613055	17613055	-1	no_errors	ENST00000262102	ensembl	human	known	69_37n	missense	120	11.76	16	SNP	0.786	T
MUC12	10071	genome.wustl.edu	37	7	100641564	100641564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100641564G>T	ENST00000379442.3	+	5	8149	c.8149G>T	c.(8149-8151)Gaa>Taa	p.E2717*	MUC12_ENST00000536621.1_Nonsense_Mutation_p.E2574*			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	2717	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCCTGTTGAAGAATCTACAAC	0.552																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.8149G>T	7.37:g.100641564G>T	ENSP00000368755:p.Glu2717*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Nonsense_Mutation	SNP	pfam_SEA	p.E2717*	ENST00000379442.3	37	c.8149		7	.	.	.	.	.	.	.	.	.	.	g	45	11.676157	0.99590	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	.	.	.	0.851	0.851	0.18989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	5.0627	0.14566	0.0:0.0:1.0:0.0	.	.	.	.	X	2717;2574	.	ENSP00000368755:E2717X	E	+	1	0	MUC12	100428284	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	0.163000	0.16520	0.769000	0.33313	0.173000	0.16961	GAA	MUC12	-	NULL	ENSG00000205277		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	106	0.00	0	G	XM_379904		100641564	100641564	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	nonsense	61	30.68	27	SNP	0.001	T
MUC13	56667	genome.wustl.edu	37	3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	325	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											72.0	68.0	69.0					3																	124632520		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.970C>T	3.37:g.124632520G>A	ENSP00000312235:p.Arg324Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	p.R324W	ENST00000311075.3	37	c.970		3	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733931	0.30684	.	.	ENSG00000173702	ENST00000311075	D	0.87491	-2.26	3.93	-4.04	0.04010	.	3.072470	0.01105	N	0.005470	D	0.89329	0.6684	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79112	-0.1937	10	0.66056	D	0.02	0.2081	4.6867	0.12760	0.4045:0.0:0.3619:0.2336	.	324	Q9H3R2	MUC13_HUMAN	W	324	ENSP00000312235:R324W	ENSP00000312235:R324W	R	-	1	2	MUC13	126115210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.076000	0.11412	-1.421000	0.02007	-2.157000	0.00329	CGG	MUC13	-	superfamily_Growth_fac_rcpt,smart_EGF-like	ENSG00000173702		0.423	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1	110	0.00	0	G	NM_033049		124632520	124632520	-1	no_errors	ENST00000311075	ensembl	human	known	69_37n	missense	66	42.11	48	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9005206	9005206	+	Missense_Mutation	SNP	G	G	A	rs533292040		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9005206G>A	ENST00000397910.4	-	47	40074	c.39871C>T	c.(39871-39873)Ccc>Tcc	p.P13291S	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13293					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTGGTGGGCACAGAGCTC	0.517																																						dbGAP											0													73.0	66.0	68.0					19																	9005206		1933	4118	6051	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39871C>T	19.37:g.9005206G>A	ENSP00000381008:p.Pro13291Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P13291S	ENST00000397910.4	37	c.39871	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	3.576	-0.086660	0.07097	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.28255	1.62	1.91	-3.81	0.04294	.	.	.	.	.	T	0.23532	0.0569	N	0.08118	0	.	.	.	B;D	0.57899	0.0;0.981	B;D	0.67900	0.0;0.954	T	0.32613	-0.9900	8	0.87932	D	0	.	0.113	0.00058	0.3221:0.1541:0.2157:0.308	.	20936;13291	Q8WXI7;B5ME49	MUC16_HUMAN;.	S	13291;422	ENSP00000381008:P13291S	ENSP00000381008:P13291S	P	-	1	0	MUC16	8866206	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.884000	0.04166	-2.572000	0.00467	-0.374000	0.07098	CCC	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	923	0.00	0	G	NM_024690		9005206	9005206	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	1173	13.12	178	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9056956	9056956	+	Missense_Mutation	SNP	G	G	T	rs189166782		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9056956G>T	ENST00000397910.4	-	3	30693	c.30490C>A	c.(30490-30492)Cat>Aat	p.H10164N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10166	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCAAATGAGAAAATGGC	0.458																																						dbGAP											0													99.0	97.0	98.0					19																	9056956		1947	4143	6090	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30490C>A	19.37:g.9056956G>T	ENSP00000381008:p.His10164Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H10164N	ENST00000397910.4	37	c.30490	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.359	0.624470	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.28	2.2	0.27929	.	.	.	.	.	T	0.02083	0.0065	N	0.14661	0.345	.	.	.	B	0.32245	0.361	B	0.30179	0.112	T	0.29518	-1.0009	8	0.87932	D	0	.	7.7285	0.28773	0.0:0.0:0.7502:0.2498	.	10164	B5ME49	.	N	10164	ENSP00000381008:H10164N	ENSP00000381008:H10164N	H	-	1	0	MUC16	8917956	0.000000	0.05858	0.004000	0.12327	0.185000	0.23345	-0.292000	0.08332	0.905000	0.36596	0.467000	0.42956	CAT	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	213	0.47	1	G	NM_024690		9056956	9056956	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	201	15.90	38	SNP	0.004	T
MUC16	94025	genome.wustl.edu	37	19	9060370	9060370	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9060370C>T	ENST00000397910.4	-	3	27279	c.27076G>A	c.(27076-27078)Gca>Aca	p.A9026T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9028	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTGAGTGCCTTGTAAGGA	0.532																																						dbGAP											0													151.0	143.0	145.0					19																	9060370		2091	4221	6312	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27076G>A	19.37:g.9060370C>T	ENSP00000381008:p.Ala9026Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A9026T	ENST00000397910.4	37	c.27076	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	7.157	0.584893	0.13749	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.3	-0.112	0.13572	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	P	0.38020	0.615	B	0.33960	0.173	T	0.44003	-0.9356	8	0.87932	D	0	.	8.1531	0.31152	0.0:0.5131:0.4869:0.0	.	9026	B5ME49	.	T	9026	ENSP00000381008:A9026T	ENSP00000381008:A9026T	A	-	1	0	MUC16	8921370	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.073000	0.03430	0.058000	0.16222	0.306000	0.20318	GCA	MUC16	-	NULL	ENSG00000181143		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	351	0.00	0	C	NM_024690		9060370	9060370	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	434	15.40	79	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9062816	9062816	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9062816T>C	ENST00000397910.4	-	3	24833	c.24630A>G	c.(24628-24630)acA>acG	p.T8210T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8212	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTCTCTGGTGTAGACCCAG	0.463																																						dbGAP											0													116.0	107.0	110.0					19																	9062816		1978	4162	6140	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24630A>G	19.37:g.9062816T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T8210	ENST00000397910.4	37	c.24630	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	320	0.00	0	T	NM_024690		9062816	9062816	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	359	24.90	119	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	9067087	9067087	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9067087T>G	ENST00000397910.4	-	3	20562	c.20359A>C	c.(20359-20361)Att>Ctt	p.I6787L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6789	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGATAGAATCTCAGGGTCC	0.488																																						dbGAP											0													183.0	188.0	186.0					19																	9067087		2176	4269	6445	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20359A>C	19.37:g.9067087T>G	ENSP00000381008:p.Ile6787Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.I6787L	ENST00000397910.4	37	c.20359	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	7.436	0.639637	0.14386	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.28	-4.47	0.03525	.	.	.	.	.	T	0.08447	0.0210	N	0.08118	0	.	.	.	B	0.17667	0.023	B	0.12837	0.008	T	0.31251	-0.9950	8	0.87932	D	0	.	3.766	0.08623	0.0:0.3274:0.1964:0.4761	.	6787	B5ME49	.	L	6787	ENSP00000381008:I6787L	ENSP00000381008:I6787L	I	-	1	0	MUC16	8928087	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-2.925000	0.00691	-0.927000	0.03766	0.317000	0.21355	ATT	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	621	0.16	1	T	NM_024690		9067087	9067087	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	612	27.54	233	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9070245	9070245	+	Missense_Mutation	SNP	G	G	T	rs146647195		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9070245G>T	ENST00000397910.4	-	3	17404	c.17201C>A	c.(17200-17202)tCt>tAt	p.S5734Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5736	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGACAGAAGATTGTGATTC	0.493																																						dbGAP											0													147.0	143.0	144.0					19																	9070245		2092	4215	6307	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17201C>A	19.37:g.9070245G>T	ENSP00000381008:p.Ser5734Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S5734Y	ENST00000397910.4	37	c.17201	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.909	-0.225685	0.06022	.	.	ENSG00000181143	ENST00000397910	T	0.38887	1.11	1.73	0.672	0.17935	.	.	.	.	.	T	0.42539	0.1207	L	0.48642	1.525	.	.	.	P	0.41041	0.736	P	0.50708	0.648	T	0.51228	-0.8732	8	0.87932	D	0	.	3.906	0.09182	0.2301:0.0:0.7699:0.0	.	5734	B5ME49	.	Y	5734	ENSP00000381008:S5734Y	ENSP00000381008:S5734Y	S	-	2	0	MUC16	8931245	0.012000	0.17670	0.000000	0.03702	0.001000	0.01503	2.058000	0.41374	0.298000	0.22638	0.462000	0.41574	TCT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	540	0.00	0	G	NM_024690		9070245	9070245	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	629	12.52	90	SNP	0.001	T
MUC16	94025	genome.wustl.edu	37	19	9077623	9077623	+	Nonsense_Mutation	SNP	C	C	A	rs201118876		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9077623C>A	ENST00000397910.4	-	3	10026	c.9823G>T	c.(9823-9825)Gaa>Taa	p.E3275*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3276	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACATATTTTCTGTTGGTGAC	0.547																																						dbGAP											0													110.0	113.0	112.0					19																	9077623		2091	4205	6296	-	-	-	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9823G>T	19.37:g.9077623C>A	ENSP00000381008:p.Glu3275*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E3275*	ENST00000397910.4	37	c.9823	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	52	19.050670	0.99914	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.08	0.983	0.19767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.1802	0.10370	0.0:0.7725:0.0:0.2275	.	.	.	.	X	3275	.	ENSP00000381008:E3275X	E	-	1	0	MUC16	8938623	0.008000	0.16893	0.006000	0.13384	0.533000	0.34776	0.671000	0.25172	0.378000	0.24764	0.313000	0.20887	GAA	MUC16	-	NULL	ENSG00000181143		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	380	0.00	0	C	NM_024690		9077623	9077623	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	nonsense	305	15.51	56	SNP	0.008	A
MUC16	94025	genome.wustl.edu	37	19	9087801	9087801	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9087801G>T	ENST00000397910.4	-	1	4217	c.4014C>A	c.(4012-4014)gtC>gtA	p.V1338V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1338	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTGTAGAGACCTGAGCTG	0.512																																						dbGAP											0													171.0	171.0	171.0					19																	9087801		2185	4284	6469	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4014C>A	19.37:g.9087801G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.V1338	ENST00000397910.4	37	c.4014	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	1190	0.08	1	G	NM_024690		9087801	9087801	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	916	16.12	176	SNP	0.001	T
MUC16	94025	genome.wustl.edu	37	19	9090527	9090527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9090527C>A	ENST00000397910.4	-	1	1491	c.1288G>T	c.(1288-1290)Gaa>Taa	p.E430*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	430	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTTCCTTCTGTTTCCTTT	0.498																																						dbGAP											0													156.0	145.0	148.0					19																	9090527		1977	4170	6147	-	-	-	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1288G>T	19.37:g.9090527C>A	ENSP00000381008:p.Glu430*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E430*	ENST00000397910.4	37	c.1288	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	36	5.628869	0.96671	.	.	ENSG00000181143	ENST00000397910	.	.	.	1.38	-1.65	0.08291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.6586	0.12630	0.0:0.5553:0.0:0.4447	.	.	.	.	X	430	.	ENSP00000381008:E430X	E	-	1	0	MUC16	8951527	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.184000	0.09698	-0.473000	0.06871	0.313000	0.20887	GAA	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	770	0.00	0	C	NM_024690		9090527	9090527	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	nonsense	487	22.54	142	SNP	0.000	A
MUC17	140453	genome.wustl.edu	37	7	100678809	100678809	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100678809C>A	ENST00000306151.4	+	3	4176	c.4112C>A	c.(4111-4113)tCt>tAt	p.S1371Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1371	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTGAAGCC	0.463																																						dbGAP											0													228.0	235.0	232.0					7																	100678809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4112C>A	7.37:g.100678809C>A	ENSP00000302716:p.Ser1371Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S1371Y	ENST00000306151.4	37	c.4112	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	1.983	-0.433699	0.04669	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.838	0.838	0.18902	.	.	.	.	.	T	0.03739	0.0106	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.52909	0.713	T	0.48080	-0.9066	9	0.40728	T	0.16	.	5.1494	0.15002	0.0:1.0:0.0:0.0	.	1371	Q685J3	MUC17_HUMAN	Y	1371	ENSP00000302716:S1371Y	ENSP00000302716:S1371Y	S	+	2	0	MUC17	100465529	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	1.306000	0.33505	0.790000	0.33803	0.134000	0.15878	TCT	MUC17	-	NULL	ENSG00000169876		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	123	0.81	1	C	NM_001040105		100678809	100678809	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	99	10.00	11	SNP	0.002	A
MUC17	140453	genome.wustl.edu	37	7	100681461	100681461	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100681461C>T	ENST00000306151.4	+	3	6828	c.6764C>T	c.(6763-6765)aCt>aTt	p.T2255I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2255	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTTCTACTGAAGCCACT	0.483																																						dbGAP											0													279.0	284.0	282.0					7																	100681461		2203	4298	6501	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6764C>T	7.37:g.100681461C>T	ENSP00000302716:p.Thr2255Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T2255I	ENST00000306151.4	37	c.6764	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	3.351	-0.132467	0.06753	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	1.65	0.665	0.17896	.	.	.	.	.	T	0.01870	0.0059	N	0.24115	0.695	0.09310	N	1	B	0.28324	0.207	B	0.21546	0.035	T	0.49163	-0.8968	9	0.22109	T	0.4	.	4.151	0.10238	0.0:0.5805:0.0:0.4195	.	2255	Q685J3	MUC17_HUMAN	I	2255	ENSP00000302716:T2255I	ENSP00000302716:T2255I	T	+	2	0	MUC17	100468181	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.259000	0.18405	0.047000	0.15862	0.134000	0.15878	ACT	MUC17	-	NULL	ENSG00000169876		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	156	0.00	0	C	NM_001040105		100681461	100681461	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	84	23.64	26	SNP	0.014	T
MUC17	140453	genome.wustl.edu	37	7	100687041	100687041	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100687041C>T	ENST00000306151.4	+	3	12408	c.12344C>T	c.(12343-12345)aCg>aTg	p.T4115M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4115					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGTCCCCACGAATACTACA	0.478																																						dbGAP											0													135.0	141.0	139.0					7																	100687041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12344C>T	7.37:g.100687041C>T	ENSP00000302716:p.Thr4115Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T4115M	ENST00000306151.4	37	c.12344	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.875680	0.00537	.	.	ENSG00000169876	ENST00000306151	T	0.02085	4.46	1.06	-2.11	0.07187	.	.	.	.	.	T	0.01189	0.0039	N	0.14661	0.345	0.09310	N	1	P	0.35793	0.521	B	0.23419	0.046	T	0.35450	-0.9788	9	0.45353	T	0.12	.	4.3146	0.10986	0.0:0.4556:0.3533:0.1911	.	4115	Q685J3	MUC17_HUMAN	M	4115	ENSP00000302716:T4115M	ENSP00000302716:T4115M	T	+	2	0	MUC17	100473761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.644000	0.02002	-3.376000	0.00176	-3.452000	0.00036	ACG	MUC17	-	NULL	ENSG00000169876		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	186	0.00	0	C	NM_001040105		100687041	100687041	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	234	12.36	33	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1267333	1267333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:1267333delG	ENST00000529681.1	+	31	9281	c.9223delG	c.(9223-9225)gggfs	p.G3075fs	MUC5B_ENST00000447027.1_Frame_Shift_Del_p.G3078fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3075	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTCACCCTTGGGACCACCGG	0.602																																						dbGAP											0													152.0	163.0	159.0					11																	1267333		2064	4183	6247	-	-	-	SO:0001589	frameshift_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9223delG	11.37:g.1267333delG	ENSP00000436812:p.Gly3075fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T3079fs	ENST00000529681.1	37	c.9232	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.602	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	82	0.00	0	G	XM_001126093		1267333	1267333	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	frame_shift_del	63	19.23	15	DEL	0.001	-
MUC7	4589	genome.wustl.edu	37	4	71347457	71347457	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:71347457G>T	ENST00000304887.5	+	3	1186	c.996G>T	c.(994-996)caG>caT	p.Q332H	MUC7_ENST00000456088.1_Missense_Mutation_p.Q332H|MUC7_ENST00000413702.1_Missense_Mutation_p.Q332H	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	332	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACACACCAGACTACTACTT	0.428																																						dbGAP											0													190.0	192.0	191.0					4																	71347457		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.996G>T	4.37:g.71347457G>T	ENSP00000302021:p.Gln332His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.Q332H	ENST00000304887.5	37	c.996	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	A	8.280	0.815276	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52983	0.64;0.64;0.64	2.75	0.322	0.15888	.	.	.	.	.	T	0.43831	0.1265	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	P	0.59012	0.85	T	0.31779	-0.9931	8	.	.	.	-0.0389	6.9208	0.24387	0.6886:0.0:0.3114:0.0	.	332	Q8TAX7	MUC7_HUMAN	H	332	ENSP00000407422:Q332H;ENSP00000400585:Q332H;ENSP00000302021:Q332H	.	Q	+	3	2	MUC7	71382046	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.000000	0.12993	-0.212000	0.10109	-0.269000	0.10298	CAG	MUC7	-	NULL	ENSG00000171195		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	890	0.00	0	G	NM_152291		71347457	71347457	+1	no_errors	ENST00000304887	ensembl	human	known	69_37n	missense	660	10.20	75	SNP	0.000	T
MUM1	84939	genome.wustl.edu	37	19	1360195	1360195	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:1360195G>A	ENST00000415183.3	+	4	304	c.278G>A	c.(277-279)cGc>cAc	p.R93H	MUM1_ENST00000311401.5_Missense_Mutation_p.R24H|MUM1_ENST00000344663.3_Missense_Mutation_p.R93H|MUM1_ENST00000591806.1_Missense_Mutation_p.R93H			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	92					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCGCTTCGCGTGGCTCTG	0.582											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													74.0	72.0	73.0					19																	1360195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.278G>A	19.37:g.1360195G>A	ENSP00000394925:p.Arg93His	Somatic	595	WXS	Illumina GAIIx	Phase_IV	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.R93H	ENST00000415183.3	37	c.278		19	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281767	0.40394	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.56275	0.47;0.47;0.47	4.7	3.61	0.41365	.	0.104827	0.38217	N	0.001774	T	0.63034	0.2477	L	0.58101	1.795	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.972;0.972;0.988;0.925	T	0.51756	-0.8665	10	0.62326	D	0.03	.	6.9594	0.24590	0.1255:0.0:0.8745:0.0	.	93;93;24;92	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	H	93;24;93;22	ENSP00000345789:R93H;ENSP00000309135:R24H;ENSP00000394925:R93H	ENSP00000309135:R24H	R	+	2	0	MUM1	1311195	0.268000	0.24133	0.039000	0.18376	0.010000	0.07245	2.626000	0.46460	2.427000	0.82271	0.655000	0.94253	CGC	MUM1	-	NULL	ENSG00000160953		0.582	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	64	0.00	0	G	NM_032853		1360195	1360195	+1	no_errors	ENST00000344663	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.011	A
MURC	347273	genome.wustl.edu	37	9	103348452	103348452	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:103348452C>T	ENST00000307584.5	+	2	879	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	272					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TTTTAAGATGCGCAGCCTCAG	0.532																																						dbGAP											0													101.0	106.0	105.0					9																	103348452		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.814C>T	9.37:g.103348452C>T	ENSP00000418668:p.Arg272Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1PRL3|B4DT88	Missense_Mutation	SNP	NULL	p.R272C	ENST00000307584.5	37	c.814	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198626	0.38806	.	.	ENSG00000170681	ENST00000307584	T	0.64803	-0.12	5.44	2.52	0.30459	.	0.409242	0.26109	N	0.026293	T	0.47544	0.1451	N	0.22421	0.69	0.22489	N	0.99906	D	0.60160	0.987	P	0.47705	0.555	T	0.41840	-0.9486	10	0.87932	D	0	0.0652	4.0839	0.09939	0.3304:0.4966:0.0:0.173	.	272	Q5BKX8	MURC_HUMAN	C	272	ENSP00000418668:R272C	ENSP00000418668:R272C	R	+	1	0	MURC	102388273	0.199000	0.23386	0.494000	0.27515	0.750000	0.42670	0.527000	0.22987	0.753000	0.32945	0.561000	0.74099	CGC	MURC	-	NULL	ENSG00000170681		0.532	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	HGNC	protein_coding	OTTHUMT00000053419.2	236	0.00	0	C	NM_001018116		103348452	103348452	+1	no_errors	ENST00000307584	ensembl	human	known	69_37n	missense	162	15.98	31	SNP	0.190	T
MVP	9961	genome.wustl.edu	37	16	29845167	29845167	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:29845167C>T	ENST00000357402.5	+	4	573	c.435C>T	c.(433-435)ttC>ttT	p.F145F	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Silent_p.F145F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	145					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTGGCTTTTCGAGGGACCTG	0.542																																						dbGAP											0													210.0	201.0	204.0					16																	29845167		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.435C>T	16.37:g.29845167C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N	p.S7L	ENST00000357402.5	37	c.20	CCDS10656.1	16																																																																																			MVP	-	pfam_Vault_N	ENSG00000013364		0.542	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	251	0.00	0	C	NM_005115		29845167	29845167	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000563123	ensembl	human	known	69_37n	missense	140	32.69	68	SNP	1.000	T
MXRA5	25878	genome.wustl.edu	37	X	3228184	3228184	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:3228184C>T	ENST00000217939.6	-	7	8214	c.8060G>A	c.(8059-8061)cGc>cAc	p.R2687H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2687	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGAGAAACGCGTCCCAGGGT	0.627																																						dbGAP											0													37.0	37.0	37.0					X																	3228184		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8060G>A	X.37:g.3228184C>T	ENSP00000217939:p.Arg2687His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R2687H	ENST00000217939.6	37	c.8060	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911818	0.52439	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.39406	1.08	4.32	4.32	0.51571	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41097	U	0.000957	T	0.66470	0.2792	M	0.81239	2.535	0.51233	D	0.999915	D	0.89917	1.0	D	0.97110	1.0	T	0.71600	-0.4544	10	0.51188	T	0.08	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	2687	Q9NR99	MXRA5_HUMAN	H	2687	ENSP00000217939:R2687H	ENSP00000217939:R2687H	R	-	2	0	MXRA5	3238184	1.000000	0.71417	0.101000	0.21167	0.004000	0.04260	4.695000	0.61767	1.782000	0.52362	0.502000	0.49764	CGC	MXRA5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.627	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	45	0.00	0	C	NM_015419		3228184	3228184	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	18	24.00	6	SNP	0.974	T
MXRA5	25878	genome.wustl.edu	37	X	3229372	3229372	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:3229372G>A	ENST00000217939.6	-	7	7026	c.6872C>T	c.(6871-6873)tCg>tTg	p.S2291L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2291	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)		p.S2291L(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGTCATCCGACTGCATGAA	0.577																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											109.0	86.0	94.0					X																	3229372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6872C>T	X.37:g.3229372G>A	ENSP00000217939:p.Ser2291Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2291L	ENST00000217939.6	37	c.6872	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589036	0.28357	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.27557	1.66	4.28	3.37	0.38596	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.511109	0.14573	U	0.311316	T	0.37265	0.0997	L	0.39147	1.195	0.09310	N	0.999999	D	0.60160	0.987	P	0.52823	0.71	T	0.16424	-1.0403	10	0.51188	T	0.08	.	13.2913	0.60272	0.0:0.1564:0.8436:0.0	.	2291	Q9NR99	MXRA5_HUMAN	L	2291	ENSP00000217939:S2291L	ENSP00000217939:S2291L	S	-	2	0	MXRA5	3239372	1.000000	0.71417	0.004000	0.12327	0.022000	0.10575	4.728000	0.62000	0.605000	0.29947	0.509000	0.49947	TCG	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.577	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	76	0.00	0	G	NM_015419		3229372	3229372	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	0.223	A
MXRA5	25878	genome.wustl.edu	37	X	3241252	3241252	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:3241252G>T	ENST00000217939.6	-	5	2628	c.2474C>A	c.(2473-2475)tCt>tAt	p.S825Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	825						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGAGGGGGGAGAAATAGCAGG	0.478																																						dbGAP											0													124.0	123.0	123.0					X																	3241252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2474C>A	X.37:g.3241252G>T	ENSP00000217939:p.Ser825Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S825Y	ENST00000217939.6	37	c.2474	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	8.643	0.896530	0.17686	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70516	-0.49	3.63	2.73	0.32206	.	1.894230	0.03566	U	0.227807	T	0.53367	0.1792	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	B	0.41571	0.36	T	0.54248	-0.8322	10	0.52906	T	0.07	.	7.7187	0.28719	0.112:0.2239:0.6641:0.0	.	825	Q9NR99	MXRA5_HUMAN	Y	825	ENSP00000217939:S825Y	ENSP00000217939:S825Y	S	-	2	0	MXRA5	3251252	0.119000	0.22226	0.008000	0.14137	0.006000	0.05464	0.162000	0.16501	1.446000	0.47643	0.529000	0.55759	TCT	MXRA5	-	NULL	ENSG00000101825		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	497	0.00	0	G	NM_015419		3241252	3241252	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	421	13.85	68	SNP	0.002	T
MXRA5	25878	genome.wustl.edu	37	X	3241426	3241426	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:3241426G>T	ENST00000217939.6	-	5	2454	c.2300C>A	c.(2299-2301)tCt>tAt	p.S767Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	767						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTCGTCTAGATTCAAACAC	0.448																																						dbGAP											0													123.0	108.0	113.0					X																	3241426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2300C>A	X.37:g.3241426G>T	ENSP00000217939:p.Ser767Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S767Y	ENST00000217939.6	37	c.2300	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	10.83	1.460129	0.26248	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68479	-0.33	3.63	3.63	0.41609	.	0.000000	0.39985	U	0.001213	T	0.71813	0.3384	L	0.29908	0.895	0.24546	N	0.99404	D	0.89917	1.0	D	0.71184	0.972	T	0.67146	-0.5744	10	0.87932	D	0	.	15.1378	0.72583	0.0:0.0:1.0:0.0	.	767	Q9NR99	MXRA5_HUMAN	Y	767	ENSP00000217939:S767Y	ENSP00000217939:S767Y	S	-	2	0	MXRA5	3251426	1.000000	0.71417	0.132000	0.22025	0.067000	0.16453	5.293000	0.65680	1.446000	0.47643	0.529000	0.55759	TCT	MXRA5	-	NULL	ENSG00000101825		0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	250	0.00	0	G	NM_015419		3241426	3241426	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	243	10.66	29	SNP	0.974	T
MXRA5	25878	genome.wustl.edu	37	X	3248193	3248193	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:3248193T>C	ENST00000217939.6	-	4	729	c.575A>G	c.(574-576)gAg>gGg	p.E192G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	192						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AACCATGTTCTCTGCTAAGTA	0.493																																						dbGAP											0													85.0	69.0	74.0					X																	3248193		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.575A>G	X.37:g.3248193T>C	ENSP00000217939:p.Glu192Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E192G	ENST00000217939.6	37	c.575	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109741	0.37242	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02158	4.42	3.56	2.39	0.29439	.	0.861040	0.09564	U	0.785164	T	0.01976	0.0062	N	0.12443	0.215	0.25647	N	0.986133	P	0.40970	0.734	B	0.40329	0.326	T	0.51795	-0.8660	10	0.72032	D	0.01	.	8.1735	0.31268	0.0:0.1002:0.0:0.8998	.	192	Q9NR99	MXRA5_HUMAN	G	192	ENSP00000217939:E192G	ENSP00000217939:E192G	E	-	2	0	MXRA5	3258193	1.000000	0.71417	0.006000	0.13384	0.004000	0.04260	6.432000	0.73400	0.305000	0.22832	0.483000	0.47432	GAG	MXRA5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000101825		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	301	0.33	1	T	NM_015419		3248193	3248193	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	243	14.13	40	SNP	0.973	C
LINC01317	104355287	genome.wustl.edu	37	2	33952679	33952679	+	lincRNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:33952679C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GTCGCGGGAACGGCCGTGGGA	0.647																																						dbGAP											0																																										-	-	-			0																															2.37:g.33952679C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-	ENSG00000239649		0.647	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	55	0.00	0	C			33952679	33952679	-1	no_errors	ENST00000474610	ensembl	human	known	69_37n	rna	29	27.50	11	SNP	0.039	T
MYBPC1	4604	genome.wustl.edu	37	12	102057262	102057262	+	Silent	SNP	G	G	A	rs150054184		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:102057262G>A	ENST00000550270.1	+	20	2205	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	MYBPC1_ENST00000536007.1_Silent_p.T716T|MYBPC1_ENST00000549145.1_Silent_p.T748T|MYBPC1_ENST00000361466.2_Silent_p.T760T|MYBPC1_ENST00000441232.1_Silent_p.T735T|MYBPC1_ENST00000545503.2_Silent_p.T735T|MYBPC1_ENST00000360610.2_Silent_p.T735T|MYBPC1_ENST00000361685.2_Silent_p.T760T|MYBPC1_ENST00000547405.1_Silent_p.T709T|MYBPC1_ENST00000541119.1_Silent_p.T723T|MYBPC1_ENST00000551300.1_Silent_p.T636T|MYBPC1_ENST00000553190.1_Silent_p.T735T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Silent_p.T721T|MYBPC1_ENST00000452455.2_Silent_p.T735T|MYBPC1_ENST00000392934.3_Silent_p.T722T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	735	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.T760T(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGACTGTCACGATGAGGTGGC	0.433																																						dbGAP											1	Substitution - coding silent(1)	skin(1)											177.0	160.0	165.0					12																	102057262		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2205G>A	12.37:g.102057262G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T760	ENST00000550270.1	37	c.2280	CCDS9085.1	12																																																																																			MYBPC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196091		0.433	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	449	0.00	0	G			102057262	102057262	+1	no_errors	ENST00000361466	ensembl	human	known	69_37n	silent	277	10.90	34	SNP	0.007	A
MYBPC1	4604	genome.wustl.edu	37	12	102067396	102067396	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:102067396C>A	ENST00000550270.1	+	24	2784	c.2784C>A	c.(2782-2784)atC>atA	p.I928I	MYBPC1_ENST00000536007.1_Silent_p.I891I|MYBPC1_ENST00000549145.1_Silent_p.I941I|MYBPC1_ENST00000361466.2_Silent_p.I935I|MYBPC1_ENST00000441232.1_Silent_p.I928I|MYBPC1_ENST00000545503.2_Silent_p.I910I|MYBPC1_ENST00000360610.2_Silent_p.I928I|MYBPC1_ENST00000361685.2_Silent_p.I935I|MYBPC1_ENST00000547405.1_Silent_p.I884I|MYBPC1_ENST00000541119.1_Silent_p.I898I|MYBPC1_ENST00000551300.1_Silent_p.I811I|MYBPC1_ENST00000553190.1_Silent_p.I910I|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Silent_p.I896I|MYBPC1_ENST00000452455.2_Silent_p.I928I|MYBPC1_ENST00000392934.3_Silent_p.I897I			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	928	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACATCCAGATCATTGGTAGGT	0.433																																						dbGAP											0													119.0	120.0	119.0					12																	102067396		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2784C>A	12.37:g.102067396C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I935	ENST00000550270.1	37	c.2805	CCDS9085.1	12																																																																																			MYBPC1	-	superfamily_Fibronectin_type3,smart_Ig_sub	ENSG00000196091		0.433	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	97	0.00	0	C			102067396	102067396	+1	no_errors	ENST00000361466	ensembl	human	known	69_37n	silent	76	26.92	28	SNP	0.003	A
MYBPC2	4606	genome.wustl.edu	37	19	50944183	50944183	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:50944183G>T	ENST00000357701.5	+	8	670	c.619G>T	c.(619-621)Gac>Tac	p.D207Y		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	207					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGATGACGATGACCTAGGCAT	0.577																																						dbGAP											0													41.0	43.0	42.0					19																	50944183		1961	4173	6134	-	-	-	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.619G>T	19.37:g.50944183G>T	ENSP00000350332:p.Asp207Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D207Y	ENST00000357701.5	37	c.619	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	21.2	4.118221	0.77323	.	.	ENSG00000086967	ENST00000357701	T	0.59224	0.28	3.33	3.33	0.38152	.	0.000000	0.36134	U	0.002772	T	0.53818	0.1820	N	0.08118	0	0.45139	D	0.998159	D	0.59357	0.985	D	0.63033	0.91	T	0.62637	-0.6812	10	0.51188	T	0.08	.	14.617	0.68556	0.0:0.0:1.0:0.0	.	207	Q14324	MYPC2_HUMAN	Y	207	ENSP00000350332:D207Y	ENSP00000350332:D207Y	D	+	1	0	MYBPC2	55635995	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	6.369000	0.73109	2.176000	0.68965	0.298000	0.19748	GAC	MYBPC2	-	NULL	ENSG00000086967		0.577	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	106	0.00	0	G	NM_004533		50944183	50944183	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	missense	67	34.95	36	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77670474	77670474	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:77670474G>A	ENST00000544440.2	-	57	9830	c.9813C>T	c.(9811-9813)cgC>cgT	p.R3271R	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Silent_p.R3271R|MYCBP2_ENST00000407578.2_Silent_p.R3309R|MYCBP2_ENST00000482517.1_5'Flank					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTGTTTTTCGCGGAGGTATT	0.408																																						dbGAP											0													134.0	128.0	130.0					13																	77670474		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.9813C>T	13.37:g.77670474G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.R3309	ENST00000544440.2	37	c.9927		13																																																																																			MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.408	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	281	0.00	0	G	NM_015057		77670474	77670474	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	silent	186	30.34	81	SNP	0.950	A
MYCBP2	23077	genome.wustl.edu	37	13	77724895	77724895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:77724895G>A	ENST00000544440.2	-	47	7008	c.6991C>T	c.(6991-6993)Cga>Tga	p.R2331*	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R2331*|MYCBP2_ENST00000407578.2_Nonsense_Mutation_p.R2369*					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAATATATCGAGCTTCCTTC	0.338																																						dbGAP											0													178.0	164.0	169.0					13																	77724895		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6991C>T	13.37:g.77724895G>A	ENSP00000444596:p.Arg2331*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.R2369*	ENST00000544440.2	37	c.7105		13	.	.	.	.	.	.	.	.	.	.	G	50	16.075048	0.99853	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.2769	0.73748	0.0:0.0:0.8586:0.1413	.	.	.	.	X	2331;2369;2331	.	ENSP00000349892:R2331X	R	-	1	2	MYCBP2	76622896	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.287000	0.72671	1.235000	0.43724	0.650000	0.86243	CGA	MYCBP2	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,pfscan_Filamin/ABP280_repeat-like	ENSG00000005810		0.338	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	221	0.00	0	G	NM_015057		77724895	77724895	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	nonsense	178	23.61	55	SNP	1.000	A
MYCBP2	23077	genome.wustl.edu	37	13	77740653	77740653	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:77740653C>T	ENST00000544440.2	-	41	6054	c.6037G>A	c.(6037-6039)Gaa>Aaa	p.E2013K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2013K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E2051K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGTCAAATTCGATTGTCATC	0.413																																						dbGAP											0													120.0	112.0	115.0					13																	77740653		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6037G>A	13.37:g.77740653C>T	ENSP00000444596:p.Glu2013Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.E2051K	ENST00000544440.2	37	c.6151		13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953810	0.92660	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32988	1.43;1.43;1.43	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.61703	1.905	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	T	0.54200	-0.8329	10	0.87932	D	0	.	20.0221	0.97508	0.0:1.0:0.0:0.0	.	2013	O75592	MYCB2_HUMAN	K	2013;2051;2013	ENSP00000349892:E2013K;ENSP00000384288:E2051K;ENSP00000444596:E2013K	ENSP00000349892:E2013K	E	-	1	0	MYCBP2	76638654	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.732000	0.93576	0.650000	0.86243	GAA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.413	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	66	0.00	0	C	NM_015057		77740653	77740653	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	68	16.05	13	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77742767	77742767	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:77742767G>T	ENST00000544440.2	-	40	5813	c.5796C>A	c.(5794-5796)gtC>gtA	p.V1932V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.V1932V|MYCBP2_ENST00000407578.2_Silent_p.V1970V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAAGGCCAAAGACTTCTACAG	0.398																																						dbGAP											0													116.0	101.0	106.0					13																	77742767		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5796C>A	13.37:g.77742767G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.V1970	ENST00000544440.2	37	c.5910		13																																																																																			MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.398	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	227	0.00	0	G	NM_015057		77742767	77742767	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	silent	185	17.04	38	SNP	0.985	T
MYCBP2	23077	genome.wustl.edu	37	13	77791998	77791998	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:77791998C>T	ENST00000544440.2	-	21	2937	c.2920G>A	c.(2920-2922)Gtc>Atc	p.V974I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.V974I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.V1012I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AATGTGAAGACCTGTCCATCC	0.383																																						dbGAP											0													112.0	112.0	112.0					13																	77791998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2920G>A	13.37:g.77791998C>T	ENSP00000444596:p.Val974Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.V1012I	ENST00000544440.2	37	c.3034		13	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158379	0.78114	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.82893	-1.66;-1.66;-1.66	5.65	5.65	0.86999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000002	D	0.89942	0.6861	M	0.65975	2.015	0.58432	D	0.999999	P	0.44690	0.841	P	0.58820	0.846	D	0.89882	0.4031	10	0.66056	D	0.02	.	19.7242	0.96154	0.0:1.0:0.0:0.0	.	974	O75592	MYCB2_HUMAN	I	974;1012;974	ENSP00000349892:V974I;ENSP00000384288:V1012I;ENSP00000444596:V974I	ENSP00000349892:V974I	V	-	1	0	MYCBP2	76689999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.658000	0.90341	0.460000	0.39030	GTC	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold,prints_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000005810		0.383	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	275	0.00	0	C	NM_015057		77791998	77791998	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	151	25.25	51	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77836235	77836235	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:77836235G>T	ENST00000544440.2	-	11	1503	c.1486C>A	c.(1486-1488)Ctt>Att	p.L496I	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L496I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L534I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTGCACCAAGAATTGCTGAC	0.323																																						dbGAP											0													86.0	83.0	84.0					13																	77836235		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1486C>A	13.37:g.77836235G>T	ENSP00000444596:p.Leu496Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,prints_Reg_chr_condens,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens	p.L534I	ENST00000544440.2	37	c.1600		13	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705954	0.30232	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29142	1.59;1.58;1.59	5.14	4.29	0.51040	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.087795	0.47093	D	0.000255	T	0.08313	0.0207	N	0.01048	-1.04	0.34852	D	0.741778	B	0.10296	0.003	B	0.08055	0.003	T	0.26677	-1.0096	10	0.05351	T	0.99	.	9.1965	0.37231	0.1634:0.0:0.8366:0.0	.	496	O75592	MYCB2_HUMAN	I	496;534;496	ENSP00000349892:L496I;ENSP00000384288:L534I;ENSP00000444596:L496I	ENSP00000349892:L496I	L	-	1	0	MYCBP2	76734236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.372000	0.44257	2.390000	0.81377	0.591000	0.81541	CTT	MYCBP2	-	superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_ARM-type_fold	ENSG00000005810		0.323	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	324	0.31	1	G	NM_015057		77836235	77836235	-1	no_errors	ENST00000407578	ensembl	human	known	69_37n	missense	202	11.40	26	SNP	0.999	T
MYCT1	80177	genome.wustl.edu	37	6	153043260	153043260	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:153043260C>A	ENST00000367245.5	+	2	588	c.580C>A	c.(580-582)Ccc>Acc	p.P194T	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	194						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAATATCTCTCCCACCATCAG	0.522																																						dbGAP											0													105.0	100.0	102.0					6																	153043260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.580C>A	6.37:g.153043260C>A	ENSP00000356214:p.Pro194Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.P194T	ENST00000367245.5	37	c.580	CCDS5239.1	6	.	.	.	.	.	.	.	.	.	.	C	0.916	-0.717573	0.03182	.	.	ENSG00000120279	ENST00000367245	T	0.26957	1.7	5.8	-1.11	0.09840	.	0.517714	0.21031	N	0.081348	T	0.02727	0.0082	N	0.15975	0.35	0.20764	N	0.999855	B;B	0.12013	0.005;0.002	B;B	0.12156	0.007;0.007	T	0.41980	-0.9478	10	0.22706	T	0.39	-5.5694	0.9977	0.01470	0.3698:0.2882:0.1242:0.2177	.	146;194	D6Q1S4;Q8N699	.;MYCT1_HUMAN	T	194	ENSP00000356214:P194T	ENSP00000356214:P194T	P	+	1	0	MYCT1	153084953	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.139000	0.10358	-0.598000	0.05806	0.591000	0.81541	CCC	MYCT1	-	NULL	ENSG00000120279		0.522	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	124	0.00	0	C	NM_025107		153043260	153043260	+1	no_errors	ENST00000367245	ensembl	human	known	69_37n	missense	92	22.03	26	SNP	0.000	A
MYF6	4618	genome.wustl.edu	37	12	81102360	81102360	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:81102360C>A	ENST00000228641.3	+	2	799	c.577C>A	c.(577-579)Cat>Aat	p.H193N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	193					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGTTTCCGATCATTCCAGGGG	0.557																																						dbGAP											0													66.0	72.0	70.0					12																	81102360		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.577C>A	12.37:g.81102360C>A	ENSP00000228641:p.His193Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.H193N	ENST00000228641.3	37	c.577	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333181	0.41297	.	.	ENSG00000111046	ENST00000228641	D	0.96041	-3.89	5.36	5.36	0.76844	.	0.199608	0.52532	D	0.000074	D	0.97099	0.9052	M	0.73962	2.25	0.53005	D	0.999964	D	0.69078	0.997	D	0.73380	0.98	D	0.95698	0.8746	10	0.21014	T	0.42	-32.5715	16.1745	0.81842	0.0:1.0:0.0:0.0	.	193	P23409	MYF6_HUMAN	N	193	ENSP00000228641:H193N	ENSP00000228641:H193N	H	+	1	0	MYF6	79626491	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.270000	0.51600	2.652000	0.90054	0.655000	0.94253	CAT	MYF6	-	NULL	ENSG00000111046		0.557	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	58	0.00	0	C	NM_002469		81102360	81102360	+1	no_errors	ENST00000228641	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	A
MYF5	4617	genome.wustl.edu	37	12	81111216	81111216	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:81111216G>T	ENST00000228644.3	+	1	526	c.374G>T	c.(373-375)aGg>aTg	p.R125M		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGATCCTCAGGAATGCCATC	0.597																																						dbGAP											0													86.0	84.0	84.0					12																	81111216		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.374G>T	12.37:g.81111216G>T	ENSP00000228644:p.Arg125Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ISR9	Missense_Mutation	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R125M	ENST00000228644.3	37	c.374	CCDS9020.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986308	0.93044	.	.	ENSG00000111049	ENST00000228644	D	0.98264	-4.83	6.06	6.06	0.98353	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98247	1.0491	10	0.87932	D	0	-8.8803	20.6208	0.99490	0.0:0.0:1.0:0.0	.	125	P13349	MYF5_HUMAN	M	125	ENSP00000228644:R125M	ENSP00000228644:R125M	R	+	2	0	MYF5	79635347	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.416000	0.97383	2.882000	0.98803	0.655000	0.94253	AGG	MYF5	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000111049		0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	65	0.00	0	G	NM_005593		81111216	81111216	+1	no_errors	ENST00000228644	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	T
MYH10	4628	genome.wustl.edu	37	17	8398504	8398504	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:8398504T>G	ENST00000269243.4	-	29	4052	c.3914A>C	c.(3913-3915)aAa>aCa	p.K1305T	MYH10_ENST00000360416.3_Missense_Mutation_p.K1336T|MYH10_ENST00000396239.1_Missense_Mutation_p.K1326T|MYH10_ENST00000379980.4_Missense_Mutation_p.K1321T	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1305					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTTAGCAAATTTAATACCCTT	0.393																																						dbGAP											0													138.0	134.0	136.0					17																	8398504		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3914A>C	17.37:g.8398504T>G	ENSP00000269243:p.Lys1305Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1326T	ENST00000269243.4	37	c.3977	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444576	0.83993	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	M	0.72576	2.205	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.69142	0.962;0.962;0.962	D	0.88189	0.2876	10	0.87932	D	0	.	14.9443	0.71016	0.0:0.0:0.0:1.0	.	1314;1336;1305	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	T	1305;1336;1326;1321	ENSP00000269243:K1305T;ENSP00000353590:K1336T;ENSP00000379539:K1326T;ENSP00000369315:K1321T	ENSP00000269243:K1305T	K	-	2	0	MYH10	8339229	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	7.436000	0.80404	2.172000	0.68678	0.533000	0.62120	AAA	MYH10	-	pfam_Myosin_tail	ENSG00000133026		0.393	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	211	0.00	0	T			8398504	8398504	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	70	30.69	31	SNP	1.000	G
MYH11	4629	genome.wustl.edu	37	16	15833938	15833938	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:15833938G>T	ENST00000300036.5	-	23	3076	c.2967C>A	c.(2965-2967)gtC>gtA	p.V989V	MYH11_ENST00000452625.2_Silent_p.V996V|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Silent_p.V989V|MYH11_ENST00000396324.3_Silent_p.V996V	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	989					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GATCATCCATGACCAGGATCT	0.517			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													148.0	130.0	136.0					16																	15833938		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2967C>A	16.37:g.15833938G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V996	ENST00000300036.5	37	c.2988	CCDS10565.1	16																																																																																			MYH11	-	superfamily_Prefoldin	ENSG00000133392		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	229	0.00	0	G	NM_001040113		15833938	15833938	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	silent	154	17.65	33	SNP	0.999	T
MYH13	8735	genome.wustl.edu	37	17	10224965	10224965	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:10224965C>A	ENST00000418404.3	-	23	3158	c.2995G>T	c.(2995-2997)Gaa>Taa	p.E999*	MYH13_ENST00000252172.4_Nonsense_Mutation_p.E999*|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	999					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATTTCTTTTCTTTGGTCAAT	0.363																																						dbGAP											0													194.0	169.0	176.0					17																	10224965		1844	4100	5944	-	-	-	SO:0001587	stop_gained	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2995G>T	17.37:g.10224965C>A	ENSP00000404570:p.Glu999*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95252|Q9P0U8	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E999*	ENST00000418404.3	37	c.2995	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.492364	0.99415	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0067	0.86395	0.0:1.0:0.0:0.0	.	.	.	.	X	999;625	.	ENSP00000252172:E999X	E	-	1	0	MYH13	10165690	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.419000	0.80179	2.309000	0.77851	0.561000	0.74099	GAA	MYH13	-	NULL	ENSG00000006788		0.363	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	774	0.00	0	C	NM_003802		10224965	10224965	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	nonsense	407	17.11	84	SNP	1.000	A
MYH8	4626	genome.wustl.edu	37	17	10302953	10302953	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:10302953C>A	ENST00000403437.2	-	28	3863	c.3769G>T	c.(3769-3771)Gat>Tat	p.D1257Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1257					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCACTTGATCTTCTAGAGAG	0.448									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											0													133.0	119.0	124.0					17																	10302953		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3769G>T	17.37:g.10302953C>A	ENSP00000384330:p.Asp1257Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1257Y	ENST00000403437.2	37	c.3769	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390466	0.82902	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83992	-1.79	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.42964	U	0.000640	D	0.92909	0.7744	M	0.90252	3.1	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.93755	0.7062	10	0.87932	D	0	.	19.317	0.94218	0.0:1.0:0.0:0.0	.	1257	P13535	MYH8_HUMAN	Y	1257	ENSP00000384330:D1257Y	ENSP00000252173:D1257Y	D	-	1	0	MYH8	10243678	1.000000	0.71417	0.980000	0.43619	0.630000	0.37929	7.573000	0.82421	2.806000	0.96561	0.655000	0.94253	GAT	MYH8	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133020		0.448	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	343	0.00	0	C	NM_002472		10302953	10302953	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	missense	156	16.58	31	SNP	1.000	A
MYH4	4622	genome.wustl.edu	37	17	10357902	10357902	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:10357902C>A	ENST00000255381.2	-	22	2771	c.2661G>T	c.(2659-2661)gaG>gaT	p.E887D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	887					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGTCATTTTTCTCTTGCATTA	0.358																																						dbGAP											0													180.0	164.0	170.0					17																	10357902		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2661G>T	17.37:g.10357902C>A	ENSP00000255381:p.Glu887Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E887D	ENST00000255381.2	37	c.2661	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398106	0.42512	.	.	ENSG00000141048	ENST00000255381	D	0.86297	-2.1	5.3	4.31	0.51392	.	0.000000	0.37577	U	0.002023	D	0.89846	0.6833	M	0.93197	3.39	0.46078	D	0.998855	B	0.24618	0.107	B	0.27170	0.077	D	0.89664	0.3879	10	0.72032	D	0.01	.	11.1713	0.48573	0.0:0.8541:0.0:0.1459	.	887	Q9Y623	MYH4_HUMAN	D	887	ENSP00000255381:E887D	ENSP00000255381:E887D	E	-	3	2	MYH4	10298627	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	0.969000	0.29370	2.631000	0.89168	0.563000	0.77884	GAG	MYH4	-	NULL	ENSG00000264424		0.358	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	237	0.00	0	C	NM_017533		10357902	10357902	-1	no_errors	ENST00000255381	ensembl	human	known	69_37n	missense	136	21.39	37	SNP	1.000	A
MYH2	4620	genome.wustl.edu	37	17	10443364	10443364	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:10443364C>T	ENST00000245503.5	-	12	1412	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D	MYH2_ENST00000532183.2_Missense_Mutation_p.G343D|MYH2_ENST00000397183.2_Missense_Mutation_p.G343D|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	343	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTAGTAAAGCCCAAAATATC	0.423																																						dbGAP											0													127.0	123.0	124.0					17																	10443364		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1028G>A	17.37:g.10443364C>T	ENSP00000245503:p.Gly343Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G343D	ENST00000245503.5	37	c.1028	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925581	0.92319	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.90732	-2.72;-2.72;-2.72	5.03	5.03	0.67393	Myosin head, motor domain (2);	0.000000	0.40064	U	0.001181	D	0.96626	0.8899	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	D	0.97308	0.9935	10	0.87932	D	0	.	17.8989	0.88897	0.0:1.0:0.0:0.0	.	343;343	Q567P6;Q9UKX2	.;MYH2_HUMAN	D	343	ENSP00000433944:G343D;ENSP00000245503:G343D;ENSP00000380367:G343D	ENSP00000245503:G343D	G	-	2	0	MYH2	10384089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.787000	0.95880	0.650000	0.86243	GGC	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000125414		0.423	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	219	0.00	0	C	NM_017534		10443364	10443364	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	missense	140	14.11	23	SNP	1.000	T
MYL1	4632	genome.wustl.edu	37	2	211163223	211163223	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:211163223G>A	ENST00000352451.3	-	3	372	c.225C>T	c.(223-225)gtC>gtT	p.V75V	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Silent_p.V31V	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	75	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGACATCACCGACCTGGCTTA	0.458																																						dbGAP											0													129.0	119.0	122.0					2																	211163223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.225C>T	2.37:g.211163223G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4N6|B2R4T6|P06741|Q6IBD5	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.V75	ENST00000352451.3	37	c.225	CCDS2390.1	2																																																																																			MYL1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000168530		0.458	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	221	0.00	0	G	NM_079420		211163223	211163223	-1	no_errors	ENST00000352451	ensembl	human	known	69_37n	silent	150	28.97	62	SNP	0.849	A
MYLK	4638	genome.wustl.edu	37	3	123385991	123385991	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:123385991C>T	ENST00000475616.1	-	18	3695	c.3696G>A	c.(3694-3696)ccG>ccA	p.P1232P	MYLK_ENST00000354792.5_Silent_p.P32P|MYLK_ENST00000360772.3_Silent_p.P1232P|MYLK_ENST00000360304.3_Silent_p.P1232P|MYLK_ENST00000346322.5_Silent_p.P1163P|MYLK_ENST00000359169.1_Silent_p.P1232P|MYLK_ENST00000510775.1_5'UTR			Q15746	MYLK_HUMAN	myosin light chain kinase	1232	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCTGCCTTCGGAGGTGTCT	0.463																																						dbGAP											0													118.0	107.0	111.0					3																	123385991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3696G>A	3.37:g.123385991C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P1232	ENST00000475616.1	37	c.3696	CCDS46896.1	3																																																																																			MYLK	-	NULL	ENSG00000065534		0.463	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	459	0.22	1	C	NM_053025		123385991	123385991	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	silent	340	28.36	135	SNP	0.814	T
MYLK2	85366	genome.wustl.edu	37	20	30409395	30409395	+	Missense_Mutation	SNP	G	G	T	rs587781091		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:30409395G>T	ENST00000375994.2	+	3	900	c.627G>T	c.(625-627)gaG>gaT	p.E209D	MYLK2_ENST00000375985.4_Missense_Mutation_p.E209D			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	209					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGTGGGAGAGAAAACCCCAG	0.602																																						dbGAP											0													83.0	90.0	87.0					20																	30409395		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.627G>T	20.37:g.30409395G>T	ENSP00000365162:p.Glu209Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569L1|Q96I84	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E209D	ENST00000375994.2	37	c.627	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860108	0.32884	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67865	-0.29;-0.29	4.67	3.7	0.42460	.	.	.	.	.	T	0.65893	0.2735	M	0.65975	2.015	0.30336	N	0.786184	D	0.57257	0.979	P	0.47528	0.549	T	0.62144	-0.6916	9	0.15499	T	0.54	.	10.8716	0.46887	0.0:0.1907:0.8093:0.0	.	209	Q9H1R3	MYLK2_HUMAN	D	209	ENSP00000365162:E209D;ENSP00000365152:E209D	ENSP00000365152:E209D	E	+	3	2	MYLK2	29873056	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.560000	0.36331	1.301000	0.44836	0.561000	0.74099	GAG	MYLK2	-	NULL	ENSG00000101306		0.602	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	50	0.00	0	G	NM_033118		30409395	30409395	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	1.000	T
MYLK2	85366	genome.wustl.edu	37	20	30421572	30421572	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:30421572C>T	ENST00000375994.2	+	12	2036	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MYLK2_ENST00000375985.4_Missense_Mutation_p.S588L|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	588					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCAGCAGCTCGGGGGCACTG	0.632											OREG0025857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													47.0	49.0	48.0					20																	30421572		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1763C>T	20.37:g.30421572C>T	ENSP00000365162:p.Ser588Leu	Somatic	817	WXS	Illumina GAIIx	Phase_IV	Q569L1|Q96I84	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S588L	ENST00000375994.2	37	c.1763	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828498	0.90955	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.71103	-0.54;-0.54	4.95	4.95	0.65309	Protein kinase-like domain (1);	.	.	.	.	T	0.54431	0.1858	L	0.46157	1.445	0.53005	D	0.999964	P	0.44429	0.835	B	0.28916	0.096	T	0.59700	-0.7405	9	0.06891	T	0.86	.	15.4921	0.75615	0.0:1.0:0.0:0.0	.	588	Q9H1R3	MYLK2_HUMAN	L	588	ENSP00000365162:S588L;ENSP00000365152:S588L	ENSP00000365152:S588L	S	+	2	0	MYLK2	29885233	0.999000	0.42202	0.961000	0.40146	0.932000	0.56968	4.390000	0.59646	2.562000	0.86427	0.561000	0.74099	TCG	MYLK2	-	superfamily_Kinase-like_dom	ENSG00000101306		0.632	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	113	0.00	0	C	NM_033118		30421572	30421572	+1	no_errors	ENST00000375985	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	0.997	T
MYO10	4651	genome.wustl.edu	37	5	16701698	16701698	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:16701698T>A	ENST00000513610.1	-	25	3260	c.2806A>T	c.(2806-2808)Agg>Tgg	p.R936W	MYO10_ENST00000427430.2_Missense_Mutation_p.R293W|MYO10_ENST00000515803.1_Missense_Mutation_p.R275W|MYO10_ENST00000274203.9_Missense_Mutation_p.R293W|MYO10_ENST00000505695.1_Missense_Mutation_p.R275W|MYO10_ENST00000512061.1_5'Flank	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	936					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGGCCGCCCTGCACGCTTCC	0.627																																						dbGAP											0													32.0	37.0	35.0					5																	16701698		2164	4283	6447	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2806A>T	5.37:g.16701698T>A	ENSP00000421280:p.Arg936Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.R936W	ENST00000513610.1	37	c.2806	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408236	0.62399	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.0	3.16	0.36331	.	.	.	.	.	T	0.51295	0.1666	L	0.32530	0.975	0.48696	D	0.999695	D;D	0.89917	0.983;1.0	P;D	0.73380	0.792;0.98	T	0.51803	-0.8659	9	0.87932	D	0	.	12.9234	0.58245	0.0:0.0:0.5418:0.4582	.	577;936	Q69YP8;Q9HD67	.;MYO10_HUMAN	W	936;275;293;275;293	ENSP00000421280:R936W;ENSP00000425051:R275W;ENSP00000274203:R293W;ENSP00000421170:R275W;ENSP00000391106:R293W	ENSP00000274203:R293W	R	-	1	2	MYO10	16754698	1.000000	0.71417	0.687000	0.30102	0.869000	0.49853	1.636000	0.37144	0.474000	0.27392	-0.286000	0.09958	AGG	MYO10	-	NULL	ENSG00000145555		0.627	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	89	0.00	0	T	NM_012334		16701698	16701698	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	59	28.05	23	SNP	0.993	A
MYO10	4651	genome.wustl.edu	37	5	16818131	16818131	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:16818131C>A	ENST00000513610.1	-	3	720	c.266G>T	c.(265-267)aGa>aTa	p.R89I	MYO10_ENST00000507288.1_Missense_Mutation_p.R89I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	89	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TATTTGATTTCTCTTATACCG	0.418																																						dbGAP											0													46.0	47.0	47.0					5																	16818131		1875	4098	5973	-	-	-	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.266G>T	5.37:g.16818131C>A	ENSP00000421280:p.Arg89Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.R89I	ENST00000513610.1	37	c.266	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380844	0.61845	.	.	ENSG00000145555	ENST00000513610;ENST00000513882;ENST00000502436;ENST00000507288	D;D;D;D	0.95342	-2.25;-2.25;-2.25;-3.68	6.08	4.09	0.47781	Myosin head, motor domain (2);	.	.	.	.	D	0.90007	0.6880	N	0.25485	0.75	0.80722	D	1	P;B;B	0.50710	0.938;0.188;0.257	P;B;B	0.47705	0.555;0.178;0.157	D	0.88202	0.2884	9	0.59425	D	0.04	.	4.3581	0.11188	0.0:0.5782:0.0:0.4218	.	89;56;89	Q8IVX5;E9PCN3;Q9HD67	.;.;MYO10_HUMAN	I	89;100;56;89	ENSP00000421280:R89I;ENSP00000421309:R100I;ENSP00000426783:R56I;ENSP00000426664:R89I	ENSP00000426783:R56I	R	-	2	0	MYO10	16871131	1.000000	0.71417	0.409000	0.26459	0.990000	0.78478	4.449000	0.60034	1.593000	0.50029	0.655000	0.94253	AGA	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000145555		0.418	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	103	0.00	0	C	NM_012334		16818131	16818131	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	missense	86	23.89	27	SNP	0.990	A
MYO18B	84700	genome.wustl.edu	37	22	26166842	26166842	+	Missense_Mutation	SNP	C	C	T	rs184262574		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:26166842C>T	ENST00000407587.2	+	6	1752	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	MYO18B_ENST00000335473.7_Missense_Mutation_p.T528M|MYO18B_ENST00000536101.1_Missense_Mutation_p.T528M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	528						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAACCAGCTACGGTGCTAAAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		19776	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													50.0	54.0	53.0					22																	26166842		1918	3902	5820	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1583C>T	22.37:g.26166842C>T	ENSP00000386096:p.Thr528Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T528M	ENST00000407587.2	37	c.1583		22	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.17	2.754612	0.49362	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88201	-2.32;-2.32;-2.35	4.74	3.72	0.42706	.	0.136512	0.47852	D	0.000207	D	0.93210	0.7837	M	0.76574	2.34	0.35901	D	0.830356	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.947;0.974;0.963;0.988	D	0.95108	0.8236	10	0.87932	D	0	.	11.5763	0.50864	0.0:0.9114:0.0:0.0886	.	41;528;528;528	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	M	528	ENSP00000441229:T528M;ENSP00000334563:T528M;ENSP00000386096:T528M	ENSP00000334563:T528M	T	+	2	0	MYO18B	24496842	0.996000	0.38824	0.977000	0.42913	0.401000	0.30781	4.078000	0.57606	0.982000	0.38575	0.313000	0.20887	ACG	MYO18B	-	NULL	ENSG00000133454		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	295	0.00	0	C	NM_032608		26166842	26166842	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	225	14.29	38	SNP	0.934	T
MYO1A	4640	genome.wustl.edu	37	12	57434983	57434983	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57434983C>T	ENST00000442789.2	-	15	1541	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	MYO1A_ENST00000544473.1_Silent_p.E256E|MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Silent_p.E418E	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	418	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTATATTCCTCTTGCTCTT	0.418																																						dbGAP											0													132.0	124.0	127.0					12																	57434983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1254G>A	12.37:g.57434983C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQD7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E418	ENST00000442789.2	37	c.1254	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000166866		0.418	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	279	0.00	0	C	NM_005379		57434983	57434983	-1	no_errors	ENST00000300119	ensembl	human	known	69_37n	silent	247	10.14	28	SNP	1.000	T
MYO1D	4642	genome.wustl.edu	37	17	31087538	31087538	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:31087538G>T	ENST00000318217.5	-	9	1447	c.1143C>A	c.(1141-1143)gtC>gtA	p.V381V	MYO1D_ENST00000579584.1_Silent_p.V381V|MYO1D_ENST00000583621.1_Silent_p.V381V|MYO1D_ENST00000584232.1_5'Flank|MYO1D_ENST00000394649.4_Silent_p.V293V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	381	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGATATCCAAGACACCAATAA	0.348																																						dbGAP											0													147.0	139.0	142.0					17																	31087538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1143C>A	17.37:g.31087538G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V381	ENST00000318217.5	37	c.1143	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000176658		0.348	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	1149	0.00	0	G			31087538	31087538	-1	no_errors	ENST00000318217	ensembl	human	known	69_37n	silent	958	13.69	152	SNP	1.000	T
MYO1H	283446	genome.wustl.edu	37	12	109834301	109834301	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:109834301C>T	ENST00000431443.2	+	3	355	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	MYO1H_ENST00000310903.5_Missense_Mutation_p.L119F	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	119	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGAAAATTCTCGAGTATTT	0.488																																						dbGAP											0													68.0	68.0	68.0					12																	109834301		1883	4112	5995	-	-	-	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.355C>T	12.37:g.109834301C>T	ENSP00000444076:p.Leu119Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L119F	ENST00000431443.2	37	c.355		12	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777745	0.70107	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.76060	-0.99;-0.99	4.8	3.88	0.44766	.	.	.	.	.	D	0.89504	0.6734	H	0.97291	3.975	0.40579	D	0.981372	D	0.89917	1.0	D	0.74023	0.982	D	0.91146	0.4949	9	0.87932	D	0	.	9.5	0.39011	0.1442:0.7767:0.0:0.0791	.	119	F5H3C6	.	F	119	ENSP00000439182:L119F;ENSP00000444076:L119F	ENSP00000439182:L119F	L	+	1	0	MYO1H	108318684	0.998000	0.40836	0.974000	0.42286	0.995000	0.86356	3.182000	0.50910	1.301000	0.44836	0.644000	0.83932	CTC	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000174527		0.488	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		150	0.00	0	C	NM_173597		109834301	109834301	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	missense	134	25.14	45	SNP	0.997	T
MYO1H	283446	genome.wustl.edu	37	12	109872853	109872853	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:109872853T>A	ENST00000431443.2	+	20	2057	c.2057T>A	c.(2056-2058)tTc>tAc	p.F686Y	MYO1H_ENST00000310903.5_Missense_Mutation_p.F676Y	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	686	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						ACCAAAATATTCATTCGTTTC	0.353																																						dbGAP											0													100.0	90.0	93.0					12																	109872853		1817	4081	5898	-	-	-	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2057T>A	12.37:g.109872853T>A	ENSP00000444076:p.Phe686Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.F686Y	ENST00000431443.2	37	c.2057		12	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570166	0.86542	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.93247	-3.19;-3.19	4.63	4.63	0.57726	.	.	.	.	.	D	0.96932	0.8998	M	0.89715	3.055	0.43777	D	0.996304	D	0.76494	0.999	D	0.87578	0.998	D	0.97504	1.0062	9	0.87932	D	0	.	12.2927	0.54827	0.0:0.0:0.0:1.0	.	676	F5H3C6	.	Y	676;686	ENSP00000439182:F676Y;ENSP00000444076:F686Y	ENSP00000439182:F676Y	F	+	2	0	MYO1H	108357236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	1.854000	0.53819	0.533000	0.62120	TTC	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000174527		0.353	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		170	0.00	0	T	NM_173597		109872853	109872853	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	missense	115	25.32	39	SNP	1.000	A
MYO3A	53904	genome.wustl.edu	37	10	26243812	26243812	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26243812G>A	ENST00000265944.5	+	4	344	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	MYO3A_ENST00000376301.1_Missense_Mutation_p.E60K|MYO3A_ENST00000543632.1_Missense_Mutation_p.E60K|MYO3A_ENST00000376302.1_Missense_Mutation_p.E60K	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGATATTGACGAAGAGATTGA	0.318																																						dbGAP											0													102.0	105.0	104.0					10																	26243812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.178G>A	10.37:g.26243812G>A	ENSP00000265944:p.Glu60Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.E60K	ENST00000265944.5	37	c.178	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.584667	0.96578	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	6.0	6.0	0.97389	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	L	0.40543	1.245	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.973;0.984;1.0;0.994	T	0.74990	-0.3475	10	0.72032	D	0.01	.	20.5	0.99208	0.0:0.0:1.0:0.0	.	60;60;60;60	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	K	60	ENSP00000265944:E60K;ENSP00000365479:E60K;ENSP00000445909:E60K;ENSP00000365478:E60K	ENSP00000265944:E60K	E	+	1	0	MYO3A	26283818	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.859000	0.99545	2.856000	0.98102	0.643000	0.83706	GAA	MYO3A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095777		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	304	0.00	0	G	NM_017433		26243812	26243812	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	164	23.72	51	SNP	1.000	A
MYO3A	53904	genome.wustl.edu	37	10	26312951	26312951	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26312951G>T	ENST00000265944.5	+	9	898	c.732G>T	c.(730-732)agG>agT	p.R244S	MYO3A_ENST00000543632.1_Splice_Site_p.R244S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTTTTCTAGGAATCCACCCC	0.388																																						dbGAP											0													128.0	132.0	131.0					10																	26312951		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.732-1G>T	10.37:g.26312951G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.R244S	ENST00000265944.5	37	c.732	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807568	0.70797	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.65549	-0.16;-0.16	5.86	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.04335	-0.225	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.997;0.998;1.0	T	0.52779	-0.8530	9	.	.	.	.	7.3928	0.26919	0.338:0.0:0.662:0.0	.	244;244;244	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	S	244	ENSP00000265944:R244S;ENSP00000445909:R244S	.	R	+	3	2	MYO3A	26352957	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.613000	0.46351	1.482000	0.48325	0.650000	0.86243	AGG	MYO3A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095777		0.388	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	190	0.00	0	G	NM_017433	Missense_Mutation	26312951	26312951	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	100	27.01	37	SNP	1.000	T
MYO3A	53904	genome.wustl.edu	37	10	26414414	26414414	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26414414G>A	ENST00000265944.5	+	19	2157	c.1991G>A	c.(1990-1992)cGa>cAa	p.R664Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	664	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACAATTATACGACCCAATACT	0.423																																						dbGAP											0													116.0	112.0	114.0					10																	26414414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1991G>A	10.37:g.26414414G>A	ENSP00000265944:p.Arg664Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.R664Q	ENST00000265944.5	37	c.1991	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848570	0.91277	.	.	ENSG00000095777	ENST00000265944	D	0.86956	-2.19	5.91	5.01	0.66863	Myosin head, motor domain (2);	0.051882	0.85682	D	0.000000	D	0.85784	0.5777	L	0.38733	1.17	0.80722	D	1	D	0.54047	0.964	P	0.51385	0.668	D	0.86776	0.1976	10	0.87932	D	0	.	11.2481	0.49008	0.14:0.0:0.86:0.0	.	664	Q8NEV4	MYO3A_HUMAN	Q	664	ENSP00000265944:R664Q	ENSP00000265944:R664Q	R	+	2	0	MYO3A	26454420	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.830000	0.75319	1.502000	0.48669	0.585000	0.79938	CGA	MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000095777		0.423	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	122	0.00	0	G	NM_017433		26414414	26414414	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	81	21.36	22	SNP	1.000	A
MYO3A	53904	genome.wustl.edu	37	10	26414458	26414458	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26414458G>A	ENST00000265944.5	+	19	2201	c.2035G>A	c.(2035-2037)Gct>Act	p.A679T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	679	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A679T(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGATGCCATGGCTAAAACTTT	0.398																																						dbGAP											1	Substitution - Missense(1)	NS(1)											125.0	126.0	126.0					10																	26414458		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2035G>A	10.37:g.26414458G>A	ENSP00000265944:p.Ala679Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.A679T	ENST00000265944.5	37	c.2035	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419794	0.83559	.	.	ENSG00000095777	ENST00000265944	T	0.81163	-1.46	5.77	5.77	0.91146	Myosin head, motor domain (2);	0.150621	0.64402	D	0.000015	D	0.89822	0.6826	M	0.89414	3.03	0.80722	D	1	P	0.49559	0.925	P	0.59012	0.85	D	0.91223	0.5008	10	0.87932	D	0	.	14.776	0.69732	0.0:0.0:0.8556:0.1444	.	679	Q8NEV4	MYO3A_HUMAN	T	679	ENSP00000265944:A679T	ENSP00000265944:A679T	A	+	1	0	MYO3A	26454464	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.557000	0.45871	2.712000	0.92718	0.585000	0.79938	GCT	MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000095777		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	130	0.00	0	G	NM_017433		26414458	26414458	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	104	11.11	13	SNP	1.000	A
MYO3A	53904	genome.wustl.edu	37	10	26446416	26446416	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26446416C>T	ENST00000265944.5	+	26	3137	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	991	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTCTCCCATCGGATACTTTT	0.353																																						dbGAP											0													90.0	89.0	90.0					10																	26446416		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2971C>T	10.37:g.26446416C>T	ENSP00000265944:p.Arg991Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.R991W	ENST00000265944.5	37	c.2971	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412435	0.83340	.	.	ENSG00000095777	ENST00000265944	D	0.92699	-3.09	5.07	4.16	0.48862	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	15.1011	0.72276	0.143:0.857:0.0:0.0	.	991	Q8NEV4	MYO3A_HUMAN	W	991	ENSP00000265944:R991W	ENSP00000265944:R991W	R	+	1	2	MYO3A	26486422	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.999000	0.57031	1.246000	0.43901	0.655000	0.94253	CGG	MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000095777		0.353	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	132	0.00	0	C	NM_017433		26446416	26446416	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	166	16.08	32	SNP	1.000	T
MYO3A	53904	genome.wustl.edu	37	10	26462642	26462642	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26462642G>T	ENST00000265944.5	+	30	3615	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1150					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCTAATGAAAGATTCATTTCA	0.353																																						dbGAP											0													43.0	43.0	43.0					10																	26462642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3449G>T	10.37:g.26462642G>T	ENSP00000265944:p.Arg1150Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.R1150I	ENST00000265944.5	37	c.3449	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059690	0.19987	.	.	ENSG00000095777	ENST00000265944	T	0.77750	-1.12	5.15	2.27	0.28462	.	0.851521	0.10924	N	0.619098	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47560	-0.9108	10	0.66056	D	0.02	.	2.9492	0.05856	0.2807:0.3361:0.2971:0.0861	.	1150	Q8NEV4	MYO3A_HUMAN	I	1150	ENSP00000265944:R1150I	ENSP00000265944:R1150I	R	+	2	0	MYO3A	26502648	0.000000	0.05858	0.001000	0.08648	0.149000	0.21700	0.498000	0.22530	0.668000	0.31126	-0.136000	0.14681	AGA	MYO3A	-	NULL	ENSG00000095777		0.353	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	93	0.00	0	G	NM_017433		26462642	26462642	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.001	T
MYO3A	53904	genome.wustl.edu	37	10	26463414	26463414	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:26463414G>T	ENST00000265944.5	+	30	4387	c.4221G>T	c.(4219-4221)aaG>aaT	p.K1407N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1407					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATAACATCAAGAAGAAGGATA	0.328																																						dbGAP											0													100.0	102.0	101.0					10																	26463414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4221G>T	10.37:g.26463414G>T	ENSP00000265944:p.Lys1407Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.K1407N	ENST00000265944.5	37	c.4221	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314770	0.23908	.	.	ENSG00000095777	ENST00000265944	T	0.79454	-1.27	5.94	1.86	0.25419	.	0.994513	0.08182	N	0.985253	T	0.61413	0.2345	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.48581	-0.9023	10	0.40728	T	0.16	.	3.022	0.06078	0.1363:0.2727:0.4517:0.1393	.	1407	Q8NEV4	MYO3A_HUMAN	N	1407	ENSP00000265944:K1407N	ENSP00000265944:K1407N	K	+	3	2	MYO3A	26503420	0.005000	0.15991	0.000000	0.03702	0.011000	0.07611	0.574000	0.23714	0.352000	0.24053	0.563000	0.77884	AAG	MYO3A	-	NULL	ENSG00000095777		0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	164	0.00	0	G	NM_017433		26463414	26463414	+1	no_errors	ENST00000265944	ensembl	human	known	69_37n	missense	135	10.60	16	SNP	0.000	T
MYO5C	55930	genome.wustl.edu	37	15	52517715	52517715	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52517715G>A	ENST00000261839.7	-	26	3383	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1074						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTTTTTCGAACTCAGAGA	0.368																																						dbGAP											0													194.0	176.0	182.0					15																	52517715		1892	4124	6016	-	-	-	SO:0001819	synonymous_variant	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3222C>T	15.37:g.52517715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F1074	ENST00000261839.7	37	c.3222	CCDS42036.1	15																																																																																			MYO5C	-	NULL	ENSG00000128833		0.368	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	242	0.00	0	G	NM_018728		52517715	52517715	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	silent	215	12.60	31	SNP	0.952	A
MYO5A	4644	genome.wustl.edu	37	15	52635372	52635372	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52635372C>A	ENST00000399231.3	-	31	4225	c.3982G>T	c.(3982-3984)Gag>Tag	p.E1328*	MYO5A_ENST00000358212.6_Nonsense_Mutation_p.E1328*|MYO5A_ENST00000356338.6_Intron|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.E1325*|MYO5A_ENST00000553916.1_Intron	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1328					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCATTCAACTCATGGTAATCC	0.408																																						dbGAP											0													98.0	92.0	94.0					15																	52635372		1922	4147	6069	-	-	-	SO:0001587	stop_gained	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3982G>T	15.37:g.52635372C>A	ENSP00000382177:p.Glu1328*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1328*	ENST00000399231.3	37	c.3982	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.308692	0.98752	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000358212;ENST00000399228	.	.	.	5.87	5.87	0.94306	.	0.160965	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	11.1761	0.48601	0.0:0.89:0.0:0.11	.	.	.	.	X	1328;1325;1328;118	.	ENSP00000350945:E1328X	E	-	1	0	MYO5A	50422664	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	2.868000	0.48436	2.770000	0.95276	0.650000	0.86243	GAG	MYO5A	-	NULL	ENSG00000197535		0.408	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	258	0.00	0	C	NM_000259		52635372	52635372	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	nonsense	190	12.44	27	SNP	1.000	A
MYO7A	4647	genome.wustl.edu	37	11	76918339	76918339	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:76918339C>T	ENST00000409709.3	+	42	6020	c.5748C>T	c.(5746-5748)ttC>ttT	p.F1916F	MYO7A_ENST00000409619.2_Silent_p.F1867F|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.F1878F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1916	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCAGGCCTTCGAAGTGGAGT	0.617																																						dbGAP											0													34.0	39.0	37.0					11																	76918339		2039	4190	6229	-	-	-	SO:0001819	synonymous_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5748C>T	11.37:g.76918339C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.F1916	ENST00000409709.3	37	c.5748	CCDS53683.1	11																																																																																			MYO7A	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000137474		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	70	0.00	0	C	NM_000260		76918339	76918339	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	silent	33	26.67	12	SNP	0.999	T
MYO9A	4649	genome.wustl.edu	37	15	72338405	72338405	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:72338405C>T	ENST00000356056.5	-	2	972	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.R167Q|RNU2-65P_ENST00000410162.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R167Q|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	167	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R167Q(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAGCGATTTCGTAGGTTTTC	0.333																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											66.0	71.0	69.0					15																	72338405		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.500G>A	15.37:g.72338405C>T	ENSP00000348349:p.Arg167Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.R167Q	ENST00000356056.5	37	c.500	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	c	27.8	4.861996	0.91433	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87571	-2.27;-2.27;-2.27	5.79	5.79	0.91817	Myosin head, motor domain (2);	.	.	.	.	D	0.88618	0.6485	L	0.31476	0.935	0.80722	D	1	P;P;D	0.56035	0.941;0.941;0.974	B;P;P	0.56865	0.241;0.541;0.808	D	0.88159	0.2856	9	0.46703	T	0.11	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	167;167;167	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	167	ENSP00000348349:R167Q;ENSP00000399162:R167Q;ENSP00000398250:R167Q	ENSP00000261864:R167Q	R	-	2	0	MYO9A	70125459	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.017000	0.70805	2.745000	0.94114	0.644000	0.83932	CGA	MYO9A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000066933		0.333	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	115	0.86	1	C	NM_006901		72338405	72338405	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	missense	105	14.63	18	SNP	1.000	T
MYO9B	4650	genome.wustl.edu	37	19	17305942	17305942	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:17305942A>G	ENST00000594824.1	+	22	3853	c.3706A>G	c.(3706-3708)Aag>Gag	p.K1236E	MYO9B_ENST00000397274.2_Missense_Mutation_p.K1236E|MYO9B_ENST00000595618.1_Missense_Mutation_p.K1236E			Q13459	MYO9B_HUMAN	myosin IXB	1236	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGAAACTGAGAAGACGCTGCC	0.647																																						dbGAP											0													23.0	29.0	27.0					19																	17305942		1945	4140	6085	-	-	-	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3706A>G	19.37:g.17305942A>G	ENSP00000471367:p.Lys1236Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.K1236E	ENST00000594824.1	37	c.3706		19	.	.	.	.	.	.	.	.	.	.	A	0.335	-0.953673	0.02285	.	.	ENSG00000099331	ENST00000397274	D	0.84298	-1.83	3.62	0.0348	0.14185	.	0.910366	0.09081	N	0.851323	T	0.66877	0.2834	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.48328	-0.9045	10	0.10636	T	0.68	.	3.5945	0.08001	0.5308:0.2286:0.2406:0.0	.	1236;1236;1242	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	E	1236	ENSP00000380444:K1236E	ENSP00000380444:K1236E	K	+	1	0	MYO9B	17166942	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.095000	0.15127	-0.462000	0.06984	-0.441000	0.05720	AAG	MYO9B	-	NULL	ENSG00000099331		0.647	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	16	0.00	0	A			17305942	17305942	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	9	74.29	26	SNP	0.003	G
MYOCD	93649	genome.wustl.edu	37	17	12639511	12639511	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:12639511C>T	ENST00000343344.4	+	6	449	c.449C>T	c.(448-450)gCt>gTt	p.A150V	AC005358.1_ENST00000609971.1_Missense_Mutation_p.A54V|MYOCD_ENST00000425538.1_Missense_Mutation_p.A150V|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	150					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCACGGATGCTTTTGCCTTT	0.522																																						dbGAP											0													189.0	192.0	191.0					17																	12639511		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.449C>T	17.37:g.12639511C>T	ENSP00000341835:p.Ala150Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.A150V	ENST00000343344.4	37	c.449	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240105	0.58995	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.44881	0.91	6.03	6.03	0.97812	.	0.055438	0.64402	D	0.000001	T	0.64227	0.2579	M	0.72118	2.19	0.45676	D	0.998599	D;D;P	0.76494	0.999;0.986;0.91	D;P;P	0.68353	0.957;0.819;0.515	T	0.57201	-0.7852	10	0.31617	T	0.26	-24.5427	19.3381	0.94329	0.0:1.0:0.0:0.0	.	54;150;150	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	V	150;150;54	ENSP00000341835:A150V	ENSP00000341835:A150V	A	+	2	0	MYOCD	12580236	0.131000	0.22433	0.491000	0.27477	0.330000	0.28571	1.862000	0.39448	2.854000	0.98071	0.655000	0.94253	GCT	MYOCD	-	NULL	ENSG00000141052		0.522	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	179	0.00	0	C	NM_153604		12639511	12639511	+1	no_errors	ENST00000425538	ensembl	human	known	69_37n	missense	119	21.05	32	SNP	0.937	T
MYOF	26509	genome.wustl.edu	37	10	95095718	95095718	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:95095718G>A	ENST00000359263.4	-	41	4522	c.4523C>T	c.(4522-4524)tCg>tTg	p.S1508L	MYOF_ENST00000371502.4_Missense_Mutation_p.S1527L|MYOF_ENST00000371501.4_Missense_Mutation_p.S1508L|MYOF_ENST00000358334.5_Missense_Mutation_p.S1495L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1508					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.S1508L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTTCATCCGACTTGCCTCG	0.403																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											214.0	196.0	202.0					10																	95095718		1894	4112	6006	-	-	-	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4523C>T	10.37:g.95095718G>A	ENSP00000352208:p.Ser1508Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.S1508L	ENST00000359263.4	37	c.4523	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181987	0.38511	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.91	5.91	0.95273	.	0.349620	0.31673	N	0.007259	T	0.76586	0.4008	L	0.38953	1.18	0.39632	D	0.970183	B;P	0.37612	0.056;0.602	B;B	0.27796	0.04;0.083	T	0.79257	-0.1878	10	0.66056	D	0.02	-7.7564	20.2946	0.98546	0.0:0.0:1.0:0.0	.	1495;1508	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	1495;1508;1508;1527	ENSP00000351094:S1495L;ENSP00000352208:S1508L;ENSP00000360556:S1508L;ENSP00000360557:S1527L	ENSP00000351094:S1495L	S	-	2	0	MYOF	95085708	0.993000	0.37304	0.991000	0.47740	0.082000	0.17680	2.826000	0.48104	2.804000	0.96469	0.462000	0.41574	TCG	MYOF	-	NULL	ENSG00000138119		0.403	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	375	0.53	2	G	NM_013451		95095718	95095718	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	417	10.45	49	SNP	0.969	A
MYOF	26509	genome.wustl.edu	37	10	95111509	95111509	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:95111509G>A	ENST00000359263.4	-	33	3575	c.3576C>T	c.(3574-3576)ttC>ttT	p.F1192F	MYOF_ENST00000371502.4_Silent_p.F1192F|MYOF_ENST00000371501.4_Silent_p.F1192F|MYOF_ENST00000358334.5_Silent_p.F1179F	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1192	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAACTTCATCGAATATAATTG	0.413																																						dbGAP											0													115.0	110.0	112.0					10																	95111509		1828	4079	5907	-	-	-	SO:0001819	synonymous_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3576C>T	10.37:g.95111509G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_Ferlin_B-domain,pfam_C2_Ca-dep,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peroxin/Ferlin,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S567L	ENST00000359263.4	37	c.1700	CCDS41551.1	10																																																																																			MYOF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000138119		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	349	0.00	0	G	NM_013451		95111509	95111509	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000463743	ensembl	human	known	69_37n	missense	180	27.78	70	SNP	0.982	A
MYOF	26509	genome.wustl.edu	37	10	95147570	95147570	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:95147570T>C	ENST00000359263.4	-	19	1681	c.1682A>G	c.(1681-1683)gAc>gGc	p.D561G	MYOF_ENST00000371502.4_Missense_Mutation_p.D561G|MYOF_ENST00000371501.4_Missense_Mutation_p.D561G|MYOF_ENST00000358334.5_Missense_Mutation_p.D548G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	561					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACCAGCAGGTCATCATTTGA	0.473																																						dbGAP											0													214.0	195.0	201.0					10																	95147570		1886	4109	5995	-	-	-	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1682A>G	10.37:g.95147570T>C	ENSP00000352208:p.Asp561Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.D561G	ENST00000359263.4	37	c.1682	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474374	0.63737	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83914	-1.78;-1.77;-1.77;-1.78	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	M	0.80616	2.505	0.80722	D	1	P;P	0.41420	0.749;0.502	P;B	0.54238	0.746;0.301	D	0.90873	0.4747	10	0.72032	D	0.01	-25.5265	14.5865	0.68328	0.0:0.0:0.0:1.0	.	548;561	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	G	548;561;561;561	ENSP00000351094:D548G;ENSP00000352208:D561G;ENSP00000360556:D561G;ENSP00000360557:D561G	ENSP00000351094:D548G	D	-	2	0	MYOF	95137560	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.754000	0.85163	2.088000	0.63022	0.533000	0.62120	GAC	MYOF	-	NULL	ENSG00000138119		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	400	0.00	0	T	NM_013451		95147570	95147570	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	237	26.09	84	SNP	1.000	C
MYOM1	8736	genome.wustl.edu	37	18	3075754	3075754	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:3075754C>T	ENST00000356443.4	-	35	4987	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1456N|MYOM1_ENST00000400569.3_Missense_Mutation_p.D1552N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1552					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.D1552N(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TAGGCCTCATCGTATGCTTTA	0.443																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											54.0	54.0	54.0					18																	3075754		1868	4102	5970	-	-	-	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4654G>A	18.37:g.3075754C>T	ENSP00000348821:p.Asp1552Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1552N	ENST00000356443.4	37	c.4654	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286894	0.59867	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.85;0.87;0.72	6.06	6.06	0.98353	.	0.191207	0.56097	D	0.000039	T	0.52757	0.1754	M	0.69823	2.125	0.58432	D	0.999999	P;P	0.37914	0.611;0.477	B;B	0.37346	0.247;0.103	T	0.49351	-0.8949	10	0.33141	T	0.24	.	20.6227	0.99507	0.0:1.0:0.0:0.0	.	1456;1552	P52179-2;P52179	.;MYOM1_HUMAN	N	1552;1552;1456	ENSP00000348821:D1552N;ENSP00000383413:D1552N;ENSP00000261606:D1456N	ENSP00000261606:D1456N	D	-	1	0	MYOM1	3065754	1.000000	0.71417	0.877000	0.34402	0.098000	0.18820	7.577000	0.82486	2.885000	0.99019	0.643000	0.83706	GAT	MYOM1	-	NULL	ENSG00000101605		0.443	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	192	0.00	0	C	NM_003803		3075754	3075754	-1	no_errors	ENST00000356443	ensembl	human	known	69_37n	missense	121	22.78	36	SNP	1.000	T
MYOM2	9172	genome.wustl.edu	37	8	2020498	2020498	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:2020498G>T	ENST00000262113.4	+	9	1008	c.867G>T	c.(865-867)agG>agT	p.R289S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	289	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCACCTTCAGGAGGGAAGGCG	0.592																																						dbGAP											0													88.0	73.0	78.0					8																	2020498		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.867G>T	8.37:g.2020498G>T	ENSP00000262113:p.Arg289Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R289S	ENST00000262113.4	37	c.867	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165361	0.21538	.	.	ENSG00000036448	ENST00000262113	T	0.66460	-0.21	5.13	-4.73	0.03259	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.447780	0.23842	N	0.044023	T	0.33352	0.0860	N	0.03608	-0.345	0.29143	N	0.878889	B	0.06786	0.001	B	0.14578	0.011	T	0.20505	-1.0273	10	0.22109	T	0.4	.	9.0765	0.36525	0.688:0.0:0.2196:0.0924	.	289	P54296	MYOM2_HUMAN	S	289	ENSP00000262113:R289S	ENSP00000262113:R289S	R	+	3	2	MYOM2	2007905	0.000000	0.05858	0.421000	0.26609	0.885000	0.51271	-0.743000	0.04845	-0.918000	0.03808	-0.302000	0.09304	AGG	MYOM2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000036448		0.592	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	62	0.00	0	G	NM_003970		2020498	2020498	+1	no_errors	ENST00000262113	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.010	T
MYOM2	9172	genome.wustl.edu	37	8	2088737	2088737	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:2088737A>C	ENST00000262113.4	+	33	4033	c.3892A>C	c.(3892-3894)Aaa>Caa	p.K1298Q	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.K723Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1298					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAGAAGGATAAAGGAAAATA	0.433																																						dbGAP											0													114.0	107.0	109.0					8																	2088737		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3892A>C	8.37:g.2088737A>C	ENSP00000262113:p.Lys1298Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K1298Q	ENST00000262113.4	37	c.3892	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090267	0.55968	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.35048	1.33;1.33	5.01	5.01	0.66863	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	M	0.70275	2.135	0.49915	D	0.999834	P	0.49307	0.922	B	0.40702	0.338	T	0.48525	-0.9028	10	0.59425	D	0.04	.	14.7555	0.69560	1.0:0.0:0.0:0.0	.	1298	P54296	MYOM2_HUMAN	Q	1298;723	ENSP00000262113:K1298Q;ENSP00000428396:K723Q	ENSP00000262113:K1298Q	K	+	1	0	MYOM2	2076144	1.000000	0.71417	0.881000	0.34555	0.402000	0.30811	8.996000	0.93539	1.892000	0.54788	0.528000	0.53228	AAA	MYOM2	-	NULL	ENSG00000036448		0.433	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	300	0.00	0	A	NM_003970		2088737	2088737	+1	no_errors	ENST00000262113	ensembl	human	known	69_37n	missense	213	14.46	36	SNP	1.000	C
MYPN	84665	genome.wustl.edu	37	10	69881327	69881327	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:69881327C>T	ENST00000358913.5	+	2	620	c.132C>T	c.(130-132)ttC>ttT	p.F44F	MYPN_ENST00000540630.1_Silent_p.F44F|MYPN_ENST00000373675.3_Silent_p.F44F|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	44	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTTGCCATTTCGGCAGTCCTT	0.512																																						dbGAP											0													54.0	52.0	53.0					10																	69881327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.132C>T	10.37:g.69881327C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F44	ENST00000358913.5	37	c.132	CCDS7275.1	10																																																																																			MYPN	-	NULL	ENSG00000138347		0.512	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	59	0.00	0	C	NM_032578		69881327	69881327	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	silent	34	46.88	30	SNP	0.032	T
MYPN	84665	genome.wustl.edu	37	10	69934251	69934251	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:69934251T>G	ENST00000358913.5	+	11	2890	c.2402T>G	c.(2401-2403)aTc>aGc	p.I801S	MYPN_ENST00000540630.1_Missense_Mutation_p.I801S|MYPN_ENST00000354393.2_Missense_Mutation_p.I526S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	801	Pro-rich.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.I801T(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACATTTTCCATCCCCAGCGGA	0.547																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											114.0	99.0	104.0					10																	69934251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2402T>G	10.37:g.69934251T>G	ENSP00000351790:p.Ile801Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I801S	ENST00000358913.5	37	c.2402	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	T	5.851	0.341260	0.11069	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.57107	0.42;0.55;0.53	5.8	1.93	0.25924	.	0.995085	0.08166	N	0.987755	T	0.39682	0.1087	L	0.36672	1.1	0.21147	N	0.99977	B;B;B	0.17667	0.023;0.003;0.0	B;B;B	0.21151	0.033;0.005;0.001	T	0.29822	-0.9999	9	.	.	.	.	5.1443	0.14977	0.0:0.2107:0.2686:0.5207	.	801;526;801	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	S	526;526;801;801	ENSP00000346369:I526S;ENSP00000351790:I801S;ENSP00000441668:I801S	.	I	+	2	0	MYPN	69604257	0.002000	0.14202	0.893000	0.35052	0.253000	0.25986	0.299000	0.19138	0.428000	0.26173	0.533000	0.62120	ATC	MYPN	-	NULL	ENSG00000138347		0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	234	0.00	0	T	NM_032578		69934251	69934251	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	missense	167	21.50	46	SNP	0.492	G
MYRIP	25924	genome.wustl.edu	37	3	40275442	40275442	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:40275442C>A	ENST00000302541.6	+	12	2340	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	MYRIP_ENST00000539167.1_Silent_p.P479P|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000444716.1_Silent_p.P666P|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Silent_p.P577P	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	666	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CTACAGGGCCCTGGGAGTCCC	0.512																																						dbGAP											0													76.0	71.0	73.0					3																	40275442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1998C>A	3.37:g.40275442C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.P666	ENST00000302541.6	37	c.1998	CCDS2689.1	3																																																																																			MYRIP	-	pfam_Myelin-assoc_OBP	ENSG00000170011		0.512	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	196	0.00	0	C	NM_015460		40275442	40275442	+1	no_errors	ENST00000302541	ensembl	human	known	69_37n	silent	134	12.99	20	SNP	1.000	A
N4BP2L2	10443	genome.wustl.edu	37	13	33110066	33110066	+	Nonsense_Mutation	SNP	C	C	A	rs201113250		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:33110066C>A	ENST00000267068.3	-	2	1263	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.E367*|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	367					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTCTGACTTCACAGAAACCA	0.383																																						dbGAP											0													149.0	139.0	142.0					13																	33110066		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1099G>T	13.37:g.33110066C>A	ENSP00000267068:p.Glu367*	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME8	Nonsense_Mutation	SNP	pfam_Zeta_toxin_domain	p.E367*	ENST00000267068.3	37	c.1099	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.925459	0.97110	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-25.0224	19.8481	0.96728	0.0:1.0:0.0:0.0	.	.	.	.	X	367	.	ENSP00000267068:E367X	E	-	1	0	N4BP2L2	32008066	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.003000	0.63959	2.705000	0.92388	0.650000	0.86243	GAA	N4BP2L2	-	NULL	ENSG00000244754		0.383	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1	113	0.00	0	C	NM_014887		33110066	33110066	-1	no_errors	ENST00000267068	ensembl	human	known	69_37n	nonsense	80	13.98	13	SNP	1.000	A
N6AMT1	29104	genome.wustl.edu	37	21	30250540	30250540	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:30250540A>C	ENST00000303775.5	-	5	537	c.512T>G	c.(511-513)tTa>tGa	p.L171*	N6AMT1_ENST00000351429.3_Nonsense_Mutation_p.L143*	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	171					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AATGGTAACTAAATAGAATAA	0.358																																						dbGAP											0													68.0	71.0	70.0					21																	30250540		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.512T>G	21.37:g.30250540A>C	ENSP00000303584:p.Leu171*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96F73	Nonsense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch	p.L171*	ENST00000303775.5	37	c.512	CCDS33526.1	21	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682775	0.88542	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	.	.	.	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5421	13.1818	0.59660	1.0:0.0:0.0:0.0	.	.	.	.	X	171;143	.	ENSP00000303584:L171X	L	-	2	0	N6AMT1	29172411	1.000000	0.71417	0.769000	0.31535	0.998000	0.95712	7.965000	0.87945	2.218000	0.71995	0.533000	0.62120	TTA	N6AMT1	-	pfam_Small_mtfrase_dom,tigrfam_HemK-rel_arch	ENSG00000156239		0.358	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	HGNC	protein_coding	OTTHUMT00000171738.1	302	0.00	0	A	NM_013240		30250540	30250540	-1	no_errors	ENST00000303775	ensembl	human	known	69_37n	nonsense	156	24.52	51	SNP	0.969	C
NAA15	80155	genome.wustl.edu	37	4	140258070	140258070	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:140258070C>T	ENST00000296543.5	+	3	531	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NAA15_ENST00000398947.1_Missense_Mutation_p.R70C|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	70					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAATTGGTTCGTAGAGGTTT	0.353																																						dbGAP											0													135.0	127.0	129.0					4																	140258070		1895	4157	6052	-	-	-	SO:0001583	missense	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.208C>T	4.37:g.140258070C>T	ENSP00000296543:p.Arg70Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R70C	ENST00000296543.5	37	c.208	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611160	0.66558	.	.	ENSG00000164134	ENST00000296543;ENST00000398947	T;T	0.55234	0.53;0.53	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.82564	-0.0394	10	0.87932	D	0	-9.4103	18.8597	0.92267	0.0:1.0:0.0:0.0	.	70	Q9BXJ9	NAA15_HUMAN	C	70	ENSP00000296543:R70C;ENSP00000381920:R70C	ENSP00000296543:R70C	R	+	1	0	NAA15	140477520	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	4.672000	0.61597	2.442000	0.82660	0.563000	0.77884	CGT	NAA15	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000164134		0.353	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	382	0.26	1	C	NM_057175		140258070	140258070	+1	no_errors	ENST00000296543	ensembl	human	known	69_37n	missense	223	29.34	93	SNP	1.000	T
NAA16	79612	genome.wustl.edu	37	13	41899887	41899887	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41899887T>C	ENST00000379406.3	+	6	915	c.591T>C	c.(589-591)aaT>aaC	p.N197N	NAA16_ENST00000379367.3_Silent_p.N197N|NAA16_ENST00000403412.3_Silent_p.N197N	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	197					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATACCAGAATCAAGTGATGA	0.284																																						dbGAP											0													60.0	66.0	64.0					13																	41899887		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.591T>C	13.37:g.41899887T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Silent	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N197	ENST00000379406.3	37	c.591	CCDS9379.1	13																																																																																			NAA16	-	pirsf_NatA_aux_su	ENSG00000172766		0.284	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	175	0.00	0	T	NM_018527		41899887	41899887	+1	no_errors	ENST00000379406	ensembl	human	known	69_37n	silent	122	21.79	34	SNP	1.000	C
NAA35	60560	genome.wustl.edu	37	9	88628764	88628764	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:88628764G>A	ENST00000361671.5	+	17	1653	c.1520G>A	c.(1519-1521)gGc>gAc	p.G507D		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	507					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CTTCTAAGTGGCTTTGAATTG	0.408																																						dbGAP											0													170.0	155.0	160.0					9																	88628764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1520G>A	9.37:g.88628764G>A	ENSP00000354972:p.Gly507Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	pfam_NatC_AcTrfase_Mak10	p.G507D	ENST00000361671.5	37	c.1520	CCDS6673.1	9	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902421	0.92035	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87383	0.2358	9	0.66056	D	0.02	-6.6997	18.2993	0.90158	0.0:0.0:1.0:0.0	.	507	Q5VZE5	NAA35_HUMAN	D	507	.	ENSP00000354972:G507D	G	+	2	0	NAA35	87818584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.324000	0.78689	0.655000	0.94253	GGC	NAA35	-	NULL	ENSG00000135040		0.408	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA35	HGNC	protein_coding	OTTHUMT00000052906.1	152	0.65	1	G	NM_024635		88628764	88628764	+1	no_errors	ENST00000361671	ensembl	human	known	69_37n	missense	103	28.97	42	SNP	1.000	A
NAA40	79829	genome.wustl.edu	37	11	63720082	63720082	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:63720082G>A	ENST00000377793.4	+	5	511				NAA40_ENST00000542163.1_Intron|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_Intron|NAA40_ENST00000539656.1_Intron	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit						lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGACCCTGGCGATGTTCCAGG	0.577																																						dbGAP											0													81.0	72.0	75.0					11																	63720082		2201	4297	6498	-	-	-	SO:0001627	intron_variant	0			AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.410+45G>A	11.37:g.63720082G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR03|B4DU10|Q5HYL5|Q9H897	RNA	SNP	-	NULL	ENST00000377793.4	37	NULL	CCDS8053.1	11																																																																																			NAA40	-	-	ENSG00000110583		0.577	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA40	HGNC	protein_coding	OTTHUMT00000396266.1	179	0.00	0	G	NM_024771		63720082	63720082	+1	no_errors	ENST00000536939	ensembl	human	known	69_37n	rna	84	52.51	94	SNP	0.002	A
NAALADL2	254827	genome.wustl.edu	37	3	174814789	174814789	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:174814789G>T	ENST00000454872.1	+	2	381	c.253G>T	c.(253-255)Gat>Tat	p.D85Y	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	85						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCTCAATCTTGATTCCATTCA	0.443																																						dbGAP											0													68.0	66.0	67.0					3																	174814789		1882	4105	5987	-	-	-	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.253G>T	3.37:g.174814789G>T	ENSP00000404705:p.Asp85Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.D85Y	ENST00000454872.1	37	c.253	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310393	0.60414	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.34859	1.35;1.34	5.72	5.72	0.89469	.	0.339761	0.25236	N	0.032133	T	0.45935	0.1367	N	0.24115	0.695	0.35594	D	0.807345	D;D	0.61080	0.988;0.989	P;P	0.58873	0.847;0.781	T	0.54622	-0.8266	10	0.87932	D	0	-11.6081	20.2504	0.98404	0.0:0.0:1.0:0.0	.	68;85	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Y	68;85	ENSP00000409858:D68Y;ENSP00000404705:D85Y	ENSP00000409858:D68Y	D	+	1	0	NAALADL2	176297483	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.670000	0.61583	2.850000	0.98022	0.650000	0.86243	GAT	NAALADL2	-	NULL	ENSG00000177694		0.443	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	115	0.00	0	G	NM_207015		174814789	174814789	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	77	25.96	27	SNP	1.000	T
NAALADL2	254827	genome.wustl.edu	37	3	175345142	175345142	+	Missense_Mutation	SNP	C	C	T	rs373491589		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:175345142C>T	ENST00000454872.1	+	11	1992	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	622			P -> R (in dbSNP:rs9866564). {ECO:0000269|PubMed:15168106, ECO:0000269|PubMed:17974005}.			integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGAAATGGATCCCTCTTTCAA	0.368																																						dbGAP											0													62.0	52.0	55.0					3																	175345142		1807	4065	5872	-	-	-	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1864C>T	3.37:g.175345142C>T	ENSP00000404705:p.Pro622Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.P622S	ENST00000454872.1	37	c.1864	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379678	0.42207	.	.	ENSG00000177694	ENST00000454872	T	0.43688	0.94	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.47655	0.1457	L	0.34521	1.04	0.31791	N	0.629689	D	0.71674	0.998	P	0.59761	0.863	T	0.57382	-0.7821	10	0.87932	D	0	-16.6121	11.3414	0.49535	0.0:0.9152:0.0:0.0848	.	622	Q58DX5	NADL2_HUMAN	S	622	ENSP00000404705:P622S	ENSP00000404705:P622S	P	+	1	0	NAALADL2	176827836	1.000000	0.71417	0.999000	0.59377	0.087000	0.18053	2.721000	0.47260	2.488000	0.83962	0.585000	0.79938	CCC	NAALADL2	-	NULL	ENSG00000177694		0.368	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	234	0.00	0	C	NM_207015		175345142	175345142	+1	no_errors	ENST00000454872	ensembl	human	known	69_37n	missense	180	24.37	58	SNP	1.000	T
NACAP1	83955	genome.wustl.edu	37	8	102381723	102381723	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:102381723G>A	ENST00000419462.1	+	0	1135					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		AAGGCAGTCCGAGCCCTGAAG	0.413																																						dbGAP											0																																										-	-	-			0			AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381723G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000419462.1	37	NULL		8																																																																																			NACAP1	-	-	ENSG00000228224		0.413	NACAP1-001	KNOWN	basic	processed_transcript	NACAP1	HGNC	pseudogene	OTTHUMT00000380521.1	116	0.00	0	G	NR_002182		102381723	102381723	+1	no_errors	ENST00000419462	ensembl	human	known	69_37n	rna	112	11.81	15	SNP	1.000	A
NADK2	133686	genome.wustl.edu	37	5	36200344	36200344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:36200344C>A	ENST00000381937.4	-	10	1050	c.1051G>T	c.(1051-1053)Gaa>Taa	p.E351*	NADK2_ENST00000282512.3_Nonsense_Mutation_p.E188*|NADK2_ENST00000397338.1_Nonsense_Mutation_p.E188*|NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000506945.1_Nonsense_Mutation_p.E210*|NADK2_ENST00000514504.1_Nonsense_Mutation_p.E319*	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	351					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TCTACCAATTCTCTGTTCAAT	0.294																																						dbGAP											0													150.0	146.0	147.0					5																	36200344		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1051G>T	5.37:g.36200344C>A	ENSP00000371362:p.Glu351*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC93|Q6UTX5|Q96NM0	Nonsense_Mutation	SNP	pirsf_ATP-NAD-like_euk	p.E188*	ENST00000381937.4	37	c.562	CCDS47197.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.356449	0.97502	.	.	ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504	.	.	.	5.62	5.62	0.85841	.	0.441395	0.28712	N	0.014399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-8.4299	18.1903	0.89805	0.0:1.0:0.0:0.0	.	.	.	.	X	188;188;351;210;319	.	ENSP00000282512:E188X	E	-	1	0	NADKD1	36236101	0.992000	0.36948	1.000000	0.80357	0.742000	0.42306	2.916000	0.48813	2.803000	0.96430	0.591000	0.81541	GAA	NADKD1	-	pirsf_ATP-NAD-like_euk	ENSG00000152620		0.294	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NADKD1	HGNC	protein_coding	OTTHUMT00000367541.1	465	0.00	0	C	NM_153013		36200344	36200344	-1	no_errors	ENST00000397338	ensembl	human	known	69_37n	nonsense	322	13.21	49	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	101742293	101742293	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:101742293G>A	ENST00000251127.6	-	29	3375	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1098					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGTCGAAATTAAAGT	0.463																																						dbGAP											0													225.0	234.0	231.0					13																	101742293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3294C>T	13.37:g.101742293G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.F1098	ENST00000251127.6	37	c.3294	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	293	0.34	1	G	NM_052867		101742293	101742293	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	silent	125	25.15	42	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	102029095	102029095	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:102029095A>G	ENST00000251127.6	-	6	681	c.600T>C	c.(598-600)ttT>ttC	p.F200F	NALCN_ENST00000376196.3_Silent_p.F200F|NALCN_ENST00000376200.5_Silent_p.F200F|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	200					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATGTTCCAAACATCTGAA	0.323																																						dbGAP											0													107.0	121.0	116.0					13																	102029095		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.600T>C	13.37:g.102029095A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.F200	ENST00000251127.6	37	c.600	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.323	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	168	0.00	0	A	NM_052867		102029095	102029095	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	silent	127	17.53	27	SNP	1.000	G
NALCN	259232	genome.wustl.edu	37	13	102029286	102029286	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:102029286C>A	ENST00000251127.6	-	5	578	c.497G>T	c.(496-498)aGa>aTa	p.R166I	NALCN_ENST00000376196.3_Missense_Mutation_p.R166I|NALCN_ENST00000376200.5_Missense_Mutation_p.R166I|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	166					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTTGTAATTCTGGTCCTTGG	0.373																																						dbGAP											0													64.0	67.0	66.0					13																	102029286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.497G>T	13.37:g.102029286C>A	ENSP00000251127:p.Arg166Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R166I	ENST00000251127.6	37	c.497	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597377	0.87055	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98120	-4.73;-4.73;-4.73	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.99847	1.1067	10	0.72032	D	0.01	.	18.1641	0.89719	0.0:1.0:0.0:0.0	.	166;166	F2Z323;Q8IZF0	.;NALCN_HUMAN	I	166	ENSP00000251127:R166I;ENSP00000365367:R166I;ENSP00000365373:R166I	ENSP00000251127:R166I	R	-	2	0	NALCN	100827287	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.283000	0.76528	0.650000	0.86243	AGA	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	197	0.00	0	C	NM_052867		102029286	102029286	-1	no_errors	ENST00000251127	ensembl	human	known	69_37n	missense	149	13.37	23	SNP	1.000	A
NAP1L1	4673	genome.wustl.edu	37	12	76444398	76444398	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:76444398G>A	ENST00000261182.8	-	12	1458	c.972C>T	c.(970-972)ttC>ttT	p.F324F	NAP1L1_ENST00000544816.1_Silent_p.F141F|NAP1L1_ENST00000431879.3_Silent_p.F256F|NAP1L1_ENST00000547773.1_Silent_p.F261F|NAP1L1_ENST00000547993.1_Silent_p.F141F|NAP1L1_ENST00000549596.1_Silent_p.F324F|NAP1L1_ENST00000535020.2_Silent_p.F324F|NAP1L1_ENST00000542344.1_Silent_p.F282F|NAP1L1_ENST00000393263.3_Silent_p.F324F|NAP1L1_ENST00000552342.1_Silent_p.F335F|NAP1L1_ENST00000548044.1_Silent_p.F283F	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	324					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GACCAATTTCGAAGTCTGCAG	0.348																																						dbGAP											0													78.0	74.0	75.0					12																	76444398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.972C>T	12.37:g.76444398G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNT8	Silent	SNP	pfam_NAP_family	p.F324	ENST00000261182.8	37	c.972	CCDS9013.1	12																																																																																			NAP1L1	-	pfam_NAP_family	ENSG00000187109		0.348	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L1	HGNC	protein_coding	OTTHUMT00000405850.3	114	0.00	0	G	NM_139207		76444398	76444398	-1	no_errors	ENST00000261182	ensembl	human	known	69_37n	silent	90	10.89	11	SNP	1.000	A
NAP1L4	4676	genome.wustl.edu	37	11	2979662	2979662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:2979662C>A	ENST00000380542.4	-	10	999	c.859G>T	c.(859-861)Gag>Tag	p.E287*	NAP1L4_ENST00000526115.1_Nonsense_Mutation_p.E287*	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	287					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AAAAAGGACTCATTGGGTACT	0.343																																						dbGAP											0													194.0	181.0	185.0					11																	2979662		1881	4100	5981	-	-	-	SO:0001587	stop_gained	0			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.859G>T	11.37:g.2979662C>A	ENSP00000369915:p.Glu287*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6J4|F5HFY4	Nonsense_Mutation	SNP	pfam_NAP_family	p.E287*	ENST00000380542.4	37	c.859	CCDS41599.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.306879	0.95629	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	.	.	.	4.36	4.36	0.52297	.	0.162277	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.0548	17.1622	0.86806	0.0:1.0:0.0:0.0	.	.	.	.	X	287	.	ENSP00000369915:E287X	E	-	1	0	NAP1L4	2936238	1.000000	0.71417	0.868000	0.34077	0.504000	0.33889	7.207000	0.77899	2.278000	0.76064	0.585000	0.79938	GAG	NAP1L4	-	pfam_NAP_family	ENSG00000205531		0.343	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L4	HGNC	protein_coding	OTTHUMT00000030273.3	472	0.42	2	C	NM_005969		2979662	2979662	-1	no_errors	ENST00000380542	ensembl	human	known	69_37n	nonsense	315	30.46	138	SNP	1.000	A
ICE2	79664	genome.wustl.edu	37	15	60720842	60720842	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:60720842G>T	ENST00000261520.4	-	15	2840	c.2606C>A	c.(2605-2607)tCt>tAt	p.S869Y	NARG2_ENST00000439632.1_Missense_Mutation_p.S732Y	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CAGGAGTGAAGAATCTTCTGC	0.423																																						dbGAP											0													66.0	65.0	65.0					15																	60720842		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000261520.4:c.2606C>A	15.37:g.60720842G>T	ENSP00000261520:p.Ser869Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NARG2_C	p.S869Y	ENST00000261520.4	37	c.2606	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414062	0.83449	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.96	5.96	0.96718	NMDA receptor-regulated gene protein 2 (1);	0.112845	0.64402	D	0.000007	T	0.76492	0.3995	L	0.54323	1.7	0.40892	D	0.984085	D	0.89917	1.0	D	0.74348	0.983	T	0.77115	-0.2707	9	0.66056	D	0.02	-17.1956	18.5997	0.91244	0.0:0.0:1.0:0.0	.	869	Q659A1	NARG2_HUMAN	Y	869;732	.	ENSP00000261520:S869Y	S	-	2	0	NARG2	58508134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.152000	0.71812	2.831000	0.97527	0.650000	0.86243	TCT	NARG2	-	pfam_NARG2_C	ENSG00000128915		0.423	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	HGNC	protein_coding	OTTHUMT00000256136.1	138	0.72	1	G			60720842	60720842	-1	no_errors	ENST00000261520	ensembl	human	known	69_37n	missense	123	16.33	24	SNP	1.000	T
ICE2	79664	genome.wustl.edu	37	15	60760504	60760504	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:60760504A>C	ENST00000261520.4	-	4	398	c.164T>G	c.(163-165)tTg>tGg	p.L55W	NARG2_ENST00000561114.1_Missense_Mutation_p.L55W|NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGAGGCATTCAAATTTTCTCC	0.353																																						dbGAP											0													71.0	71.0	71.0					15																	60760504		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000261520.4:c.164T>G	15.37:g.60760504A>C	ENSP00000261520:p.Leu55Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NARG2_C	p.L55W	ENST00000261520.4	37	c.164	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735484	0.69189	.	.	ENSG00000128915	ENST00000261520	.	.	.	5.87	5.87	0.94306	.	0.907156	0.09405	N	0.806623	T	0.64394	0.2594	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.60505	-0.7250	9	0.72032	D	0.01	-1.5762	14.006	0.64463	1.0:0.0:0.0:0.0	.	55	Q659A1	NARG2_HUMAN	W	55	.	ENSP00000261520:L55W	L	-	2	0	NARG2	58547796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.813000	0.48002	2.249000	0.74217	0.448000	0.29417	TTG	NARG2	-	NULL	ENSG00000128915		0.353	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	HGNC	protein_coding	OTTHUMT00000256136.1	185	0.00	0	A			60760504	60760504	-1	no_errors	ENST00000261520	ensembl	human	known	69_37n	missense	167	13.47	26	SNP	1.000	C
NAT8	9027	genome.wustl.edu	37	2	73868172	73868172	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:73868172T>G	ENST00000272425.3	-	2	733	c.584A>C	c.(583-585)aAg>aCg	p.K195T		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CTGGCCCGTCTTCTTGAAGCC	0.547																																						dbGAP											0													69.0	69.0	69.0					2																	73868172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.584A>C	2.37:g.73868172T>G	ENSP00000272425:p.Lys195Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.K195T	ENST00000272425.3	37	c.584	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388806	0.25118	.	.	ENSG00000144035	ENST00000272425	T	0.30448	1.53	4.26	1.74	0.24563	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.266778	0.35772	N	0.002985	T	0.19327	0.0464	L	0.38692	1.165	0.09310	N	1	B	0.27910	0.193	B	0.25759	0.063	T	0.13656	-1.0501	10	0.42905	T	0.14	-6.8152	4.6573	0.12624	0.1825:0.0982:0.0:0.7193	.	195	Q9UHE5	NAT8_HUMAN	T	195	ENSP00000272425:K195T	ENSP00000272425:K195T	K	-	2	0	NAT8	73721680	0.023000	0.18921	0.001000	0.08648	0.001000	0.01503	0.323000	0.19593	0.128000	0.18479	-0.288000	0.09946	AAG	NAT8	-	pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000144035		0.547	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	149	0.00	0	T	NM_003960		73868172	73868172	-1	no_errors	ENST00000272425	ensembl	human	known	69_37n	missense	144	12.20	20	SNP	0.000	G
NAV3	89795	genome.wustl.edu	37	12	78542661	78542661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:78542661G>T	ENST00000397909.2	+	22	4920	c.4747G>T	c.(4747-4749)Gaa>Taa	p.E1583*	NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1583*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1583*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1406*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1583						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGCATCACAAGAAAAAGTTGC	0.313										HNSCC(70;0.22)																												dbGAP											0													89.0	83.0	85.0					12																	78542661		1837	4093	5930	-	-	-	SO:0001587	stop_gained	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4747G>T	12.37:g.78542661G>T	ENSP00000381007:p.Glu1583*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E1583*	ENST00000397909.2	37	c.4747		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.923217|12.923217	0.99706|0.99706	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.41001|.	U|.	0.000965|.	.|T	.|0.74974	.|0.3787	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73439	.|-0.3982	.|4	0.62326|.	D|.	0.03|.	-22.6759|-22.6759	18.84|18.84	0.92180|0.92180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1583;1583;1583;1406;204;212|477	.|.	ENSP00000228327:E1583X|.	E|R	+|+	1|2	0|0	NAV3|NAV3	77066792|77066792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.070000|8.070000	0.89493|0.89493	2.559000|2.559000	0.86315|0.86315	0.650000|0.650000	0.86243|0.86243	GAA|AGA	NAV3	-	NULL	ENSG00000067798		0.313	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	427	0.00	0	G	NM_001024383		78542661	78542661	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	nonsense	258	13.42	40	SNP	1.000	T
NBAS	51594	genome.wustl.edu	37	2	15374764	15374764	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:15374764C>T	ENST00000281513.5	-	46	6076	c.6051G>A	c.(6049-6051)atG>atA	p.M2017I	NBAS_ENST00000441750.1_Missense_Mutation_p.M1897I	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2017					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCTGCTGAATCATTGCTAGAG	0.428																																						dbGAP											0													98.0	94.0	96.0					2																	15374764		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6051G>A	2.37:g.15374764C>T	ENSP00000281513:p.Met2017Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.M2017I	ENST00000281513.5	37	c.6051	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366497	0.41902	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.45276	2.95;3.12;0.9	5.79	5.79	0.91817	.	0.350601	0.38897	N	0.001532	T	0.40670	0.1126	L	0.53249	1.67	0.33586	D	0.600513	P;B	0.45011	0.848;0.204	B;B	0.38842	0.283;0.035	T	0.61163	-0.7118	10	0.87932	D	0	.	15.5028	0.75713	0.0:0.8622:0.1377:0.0	.	1897;2017	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	I	1897;2017;109	ENSP00000413201:M1897I;ENSP00000281513:M2017I;ENSP00000392421:M109I	ENSP00000281513:M2017I	M	-	3	0	NBAS	15292215	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.550000	0.36223	2.744000	0.94065	0.650000	0.86243	ATG	NBAS	-	NULL	ENSG00000151779		0.428	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	104	0.00	0	C	NM_015909		15374764	15374764	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	missense	79	10.23	9	SNP	0.997	T
NBAS	51594	genome.wustl.edu	37	2	15417008	15417008	+	Nonsense_Mutation	SNP	G	G	A	rs556229592		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:15417008G>A	ENST00000281513.5	-	43	5381	c.5356C>T	c.(5356-5358)Cga>Tga	p.R1786*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.R1666*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1786					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCAGCAGTCGAATGTGGGTT	0.408													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17969	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													93.0	86.0	88.0					2																	15417008		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5356C>T	2.37:g.15417008G>A	ENSP00000281513:p.Arg1786*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R1786*	ENST00000281513.5	37	c.5356	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.319341	0.99546	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	.	.	.	5.61	5.61	0.85477	.	0.105465	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.071	0.64858	0.0:0.0:0.736:0.264	.	.	.	.	X	1666;1786	.	ENSP00000281513:R1786X	R	-	1	2	NBAS	15334459	1.000000	0.71417	0.706000	0.30403	0.855000	0.48748	3.589000	0.53972	2.826000	0.97356	0.655000	0.94253	CGA	NBAS	-	NULL	ENSG00000151779		0.408	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	232	0.00	0	G	NM_015909		15417008	15417008	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	nonsense	110	21.83	31	SNP	0.763	A
NBAS	51594	genome.wustl.edu	37	2	15698717	15698717	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:15698717C>T	ENST00000281513.5	-	2	184	c.159G>A	c.(157-159)acG>acA	p.T53T	NBAS_ENST00000441750.1_Silent_p.T53T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	53					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.T53T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAATTGCTTTCGTGATGATAA	0.328																																						dbGAP											1	Substitution - coding silent(1)	skin(1)											131.0	119.0	123.0					2																	15698717		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.159G>A	2.37:g.15698717C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.T53	ENST00000281513.5	37	c.159	CCDS1685.1	2																																																																																			NBAS	-	NULL	ENSG00000151779		0.328	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	394	0.00	0	C	NM_015909		15698717	15698717	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	silent	286	10.06	32	SNP	0.979	T
NBEA	26960	genome.wustl.edu	37	13	35733695	35733695	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:35733695G>T	ENST00000400445.3	+	22	3921	c.3387G>T	c.(3385-3387)ttG>ttT	p.L1129F	NBEA_ENST00000379939.2_Missense_Mutation_p.L1129F|NBEA_ENST00000310336.4_Missense_Mutation_p.L1129F|NBEA_ENST00000540320.1_Missense_Mutation_p.L1129F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1129					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGTCCATTGATAACATTAG	0.338																																						dbGAP											0													68.0	63.0	64.0					13																	35733695		1847	4089	5936	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3387G>T	13.37:g.35733695G>T	ENSP00000383295:p.Leu1129Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L1129F	ENST00000400445.3	37	c.3387	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254597	0.39896	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.42	4.57	0.56435	.	0.000000	0.64402	D	0.000004	T	0.41143	0.1146	N	0.24115	0.695	0.80722	D	1	P	0.50617	0.937	B	0.42851	0.4	T	0.17319	-1.0373	10	0.14656	T	0.56	.	10.9932	0.47561	0.1626:0.0:0.8374:0.0	.	1129	Q5T321	.	F	1129	ENSP00000440951:L1129F;ENSP00000383295:L1129F;ENSP00000369271:L1129F;ENSP00000308534:L1129F	ENSP00000308534:L1129F	L	+	3	2	NBEA	34631695	1.000000	0.71417	0.995000	0.50966	0.919000	0.55068	1.227000	0.32576	1.292000	0.44672	-0.266000	0.10368	TTG	NBEA	-	NULL	ENSG00000172915		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		254	0.00	0	G	NM_015678		35733695	35733695	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	148	25.13	50	SNP	1.000	T
NBEAL1	65065	genome.wustl.edu	37	2	204002928	204002928	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:204002928G>T	ENST00000449802.1	+	29	4855	c.4522G>T	c.(4522-4524)Gaa>Taa	p.E1508*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1508										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAAAACAGAGAAGCAAAAAC	0.383																																						dbGAP											0													92.0	83.0	86.0					2																	204002928		1854	4092	5946	-	-	-	SO:0001587	stop_gained	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4522G>T	2.37:g.204002928G>T	ENSP00000399903:p.Glu1508*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1508*	ENST00000449802.1	37	c.4522	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.192253	0.99726	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.61	5.61	0.85477	.	0.593374	0.15966	N	0.236022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2377	0.93867	0.0:0.0:1.0:0.0	.	.	.	.	X	1508	.	ENSP00000344985:E1508X	E	+	1	0	NBEAL1	203711173	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.028000	0.93712	2.650000	0.89964	0.655000	0.94253	GAA	NBEAL1	-	NULL	ENSG00000144426		0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	162	0.00	0	G			204002928	204002928	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	nonsense	67	25.56	23	SNP	1.000	T
NBEAL1	65065	genome.wustl.edu	37	2	204031988	204031988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:204031988C>T	ENST00000449802.1	+	37	6148	c.5815C>T	c.(5815-5817)Cga>Tga	p.R1939*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1939										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTCAAATTCGAGAGATTCA	0.368																																						dbGAP											0													130.0	119.0	122.0					2																	204031988		1815	4082	5897	-	-	-	SO:0001587	stop_gained	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5815C>T	2.37:g.204031988C>T	ENSP00000399903:p.Arg1939*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1939*	ENST00000449802.1	37	c.5815	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	50	16.132604	0.99855	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	.	.	.	5.29	5.29	0.74685	.	0.128218	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8829	0.92364	0.0:1.0:0.0:0.0	.	.	.	.	X	1939	.	ENSP00000344985:R1939X	R	+	1	2	NBEAL1	203740233	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.056000	0.49923	2.636000	0.89361	0.563000	0.77884	CGA	NBEAL1	-	NULL	ENSG00000144426		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	233	0.00	0	C			204031988	204031988	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	nonsense	221	12.65	32	SNP	1.000	T
NBPF3	84224	genome.wustl.edu	37	1	21804636	21804636	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:21804636G>A	ENST00000318249.5	+	9	1342		c.e9-1		NBPF3_ENST00000454000.2_Splice_Site|NBPF3_ENST00000342104.5_Missense_Mutation_p.R356K|NBPF3_ENST00000318220.6_Splice_Site	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3							cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGCTCATCAGGAATCTGCAG	0.502																																						dbGAP											0													103.0	107.0	106.0					1																	21804636		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.993-1G>A	1.37:g.21804636G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Splice_Site	SNP	-	e8-1	ENST00000318249.5	37	c.993-1	CCDS216.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|.	2.629|2.629	-0.286821|-0.286821	0.05605|0.05605	.|.	.|.	ENSG00000142794|ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000434838|ENST00000342104	.|T	.|0.09163	.|3.01	1.09|1.09	-2.17|-2.17	0.07059|0.07059	.|.	.|.	.|.	.|.	.|.	.|T	.|0.09202	.|0.0227	.|.	.|.	.|.	0.20703|0.20703	N|N	0.999868|0.999868	.|P	.|0.41597	.|0.756	.|P	.|0.48114	.|0.567	.|T	.|0.23547	.|-1.0185	.|8	.|0.12430	.|T	.|0.62	.|.	6.2|6.2	0.20571|0.20571	0.0:0.0:0.5452:0.4548|0.0:0.0:0.5452:0.4548	.|.	.|356	.|Q9H094-3	.|.	.|K	-1|356	.|ENSP00000340336:R356K	.|ENSP00000340336:R356K	.|R	+|+	.|2	.|0	NBPF3|NBPF3	21677223|21677223	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.293000|0.293000	0.27360|0.27360	-0.671000|-0.671000	0.05250|0.05250	-1.385000|-1.385000	0.02101|0.02101	0.184000|0.184000	0.17185|0.17185	.|AGG	NBPF3	-	-	ENSG00000142794		0.502	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		349	0.00	0	G	NM_032264	Intron	21804636	21804636	+1	no_errors	ENST00000318249	ensembl	human	known	69_37n	splice_site	224	15.15	40	SNP	0.000	A
NCALD	83988	genome.wustl.edu	37	8	102731603	102731603	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:102731603G>T	ENST00000311028.3	-	5	633	c.255C>A	c.(253-255)ttC>ttA	p.F85L	NCALD_ENST00000395923.1_Missense_Mutation_p.F85L|NCALD_ENST00000521599.1_Missense_Mutation_p.F85L|NCALD_ENST00000522951.1_Missense_Mutation_p.F85L|NCALD_ENST00000519508.2_Missense_Mutation_p.F85L|NCALD_ENST00000220931.6_Missense_Mutation_p.F85L	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGGCGATGATGAATTCTCTAA	0.478																																						dbGAP											0													151.0	148.0	149.0					8																	102731603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.255C>A	8.37:g.102731603G>T	ENSP00000310587:p.Phe85Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.F85L	ENST00000311028.3	37	c.255	CCDS6292.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238119	0.79800	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.13	3.31	0.37934	EF-hand-like domain (1);	0.050818	0.85682	N	0.000000	D	0.89420	0.6710	M	0.91354	3.2	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.87157	0.2212	10	0.87932	D	0	.	5.2322	0.15428	0.2235:0.0:0.6315:0.145	.	85	P61601	NCALD_HUMAN	L	85	ENSP00000379256:F85L;ENSP00000310587:F85L;ENSP00000220931:F85L;ENSP00000428105:F85L;ENSP00000430476:F85L;ENSP00000428781:F85L;ENSP00000429466:F85L;ENSP00000429255:F85L;ENSP00000430731:F85L;ENSP00000430925:F85L;ENSP00000429522:F85L;ENSP00000428598:F85L;ENSP00000428312:F85L;ENSP00000429493:F85L;ENSP00000429245:F85L;ENSP00000430064:F85L;ENSP00000430534:F85L	ENSP00000220931:F85L	F	-	3	2	NCALD	102800779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.059000	0.49947	0.520000	0.28426	0.557000	0.71058	TTC	NCALD	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	ENSG00000104490		0.478	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NCALD	HGNC	protein_coding	OTTHUMT00000380732.2	145	0.00	0	G			102731603	102731603	-1	no_errors	ENST00000311028	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	1.000	T
NCAM2	4685	genome.wustl.edu	37	21	22696784	22696784	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:22696784C>T	ENST00000400546.1	+	6	950	c.701C>T	c.(700-702)gCc>gTc	p.A234V	NCAM2_ENST00000535285.1_Missense_Mutation_p.A259V|NCAM2_ENST00000284894.7_Missense_Mutation_p.A92V	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	234	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TCCTGCAGGGCCTCAGGCTCT	0.507																																						dbGAP											0													98.0	99.0	98.0					21																	22696784		1931	4128	6059	-	-	-	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.701C>T	21.37:g.22696784C>T	ENSP00000383392:p.Ala234Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.A234V	ENST00000400546.1	37	c.701	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010423	0.75046	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.58652	0.32;0.32;0.32	5.24	5.24	0.73138	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048742	0.85682	D	0.000000	T	0.59609	0.2206	N	0.25144	0.715	0.80722	D	1	D;D;P	0.71674	0.995;0.998;0.881	P;P;B	0.58130	0.833;0.791;0.244	T	0.59273	-0.7485	10	0.36615	T	0.2	-13.3483	17.3659	0.87364	0.0:1.0:0.0:0.0	.	259;92;234	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	V	234;92;259	ENSP00000383392:A234V;ENSP00000284894:A92V;ENSP00000441887:A259V	ENSP00000284894:A92V	A	+	2	0	NCAM2	21618655	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	5.868000	0.69605	2.454000	0.82982	0.591000	0.81541	GCC	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154654		0.507	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	233	0.00	0	C	NM_004540		22696784	22696784	+1	no_errors	ENST00000400546	ensembl	human	known	69_37n	missense	155	14.36	26	SNP	0.998	T
NCAPG	64151	genome.wustl.edu	37	4	17841404	17841404	+	Nonsense_Mutation	SNP	G	G	T	rs140475750	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:17841404G>T	ENST00000251496.2	+	17	2748	c.2572G>T	c.(2572-2574)Gaa>Taa	p.E858*		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	858					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GAGTTCTTTAGAACTCAGTAG	0.348																																						dbGAP											0													47.0	48.0	48.0					4																	17841404		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2572G>T	4.37:g.17841404G>T	ENSP00000251496:p.Glu858*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E858*	ENST00000251496.2	37	c.2572	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.194810	0.98129	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.83	5.0	0.66597	.	0.091573	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-23.2906	14.9692	0.71220	0.0682:0.0:0.9318:0.0	.	.	.	.	X	858	.	ENSP00000251496:E858X	E	+	1	0	NCAPG	17450502	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	7.550000	0.82173	1.485000	0.48380	-0.140000	0.14226	GAA	NCAPG	-	NULL	ENSG00000109805		0.348	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	228	0.00	0	G	NM_022346		17841404	17841404	+1	no_errors	ENST00000251496	ensembl	human	known	69_37n	nonsense	97	27.07	36	SNP	1.000	T
NCAPG	64151	genome.wustl.edu	37	4	17843964	17843964	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:17843964G>A	ENST00000251496.2	+	20	3062	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	962					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CAGCTAGGACGAACAGGAGGT	0.363																																						dbGAP											0													85.0	82.0	83.0					4																	17843964		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2886G>A	4.37:g.17843964G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	superfamily_ARM-type_fold	p.T962	ENST00000251496.2	37	c.2886	CCDS3424.1	4																																																																																			NCAPG	-	NULL	ENSG00000109805		0.363	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	234	0.00	0	G	NM_022346		17843964	17843964	+1	no_errors	ENST00000251496	ensembl	human	known	69_37n	silent	103	18.90	24	SNP	0.000	A
NCAPG2	54892	genome.wustl.edu	37	7	158457244	158457244	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:158457244C>T	ENST00000409423.1	-	15	1850	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	NCAPG2_ENST00000541468.1_Missense_Mutation_p.E61K|NCAPG2_ENST00000356309.3_Missense_Mutation_p.E560K|NCAPG2_ENST00000449727.2_Missense_Mutation_p.E560K|NCAPG2_ENST00000275830.10_Missense_Mutation_p.E352K|NCAPG2_ENST00000409339.3_Missense_Mutation_p.E560K	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	560					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCGGTGTGTTCGTGGGCGTAC	0.517																																						dbGAP											0													105.0	107.0	107.0					7																	158457244		2094	4240	6334	-	-	-	SO:0001583	missense	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1678G>A	7.37:g.158457244C>T	ENSP00000386569:p.Glu560Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.E560K	ENST00000409423.1	37	c.1678	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641616	0.47153	.	.	ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727	T;T;T;T;T;T	0.32023	1.47;1.56;1.56;1.57;1.55;1.55	5.6	4.72	0.59763	.	0.309409	0.39909	N	0.001228	T	0.17323	0.0416	L	0.27053	0.805	0.33018	D	0.528513	B;B;P;B	0.45902	0.367;0.32;0.868;0.117	B;B;B;B	0.31495	0.045;0.016;0.131;0.02	T	0.17501	-1.0367	10	0.17369	T	0.5	-12.3598	14.8562	0.70338	0.0:0.9306:0.0:0.0694	.	560;61;352;560	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2	.;.;.;CNDG2_HUMAN	K	61;560;560;352;560;61;560	ENSP00000442337:E61K;ENSP00000348657:E560K;ENSP00000386569:E560K;ENSP00000275830:E352K;ENSP00000387007:E560K;ENSP00000388326:E560K	ENSP00000275830:E352K	E	-	1	0	NCAPG2	158150005	0.995000	0.38212	0.757000	0.31301	0.769000	0.43574	2.365000	0.44196	1.497000	0.48584	0.655000	0.94253	GAA	NCAPG2	-	NULL	ENSG00000146918		0.517	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	273	0.00	0	C	NM_017760		158457244	158457244	-1	no_errors	ENST00000409339	ensembl	human	known	69_37n	missense	159	20.90	42	SNP	0.963	T
NCF4	4689	genome.wustl.edu	37	22	37263476	37263476	+	Missense_Mutation	SNP	G	G	A	rs387906808		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:37263476G>A	ENST00000248899.6	+	4	498	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	CTA-833B7.2_ENST00000330602.2_RNA|CTA-833B7.2_ENST00000431290.1_RNA|NCF4_ENST00000397147.4_Missense_Mutation_p.R105Q	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	105	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.		R -> Q (in CGD3; the protein remains cytosolic, does not localize to phagosomes or endosomes and is unable to bind phosphatidylinositol 3-phosphate (PtdIns(3)P) in a lipid-binding assay; unable to rescue the NADPH-oxidase defect of NCF4 functionally null cells). {ECO:0000269|PubMed:19692703}.		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.R105Q(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GCCGAGATGCGGATACCTGCC	0.597																																						dbGAP											1	Substitution - Missense(1)	skin(1)											108.0	75.0	86.0					22																	37263476		2203	4300	6503	-	-	-	SO:0001583	missense	0			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.314G>A	22.37:g.37263476G>A	ENSP00000248899:p.Arg105Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_NCF_P40,prints_p67phox,pfscan_Phox,pfscan_SH3_domain	p.R105Q	ENST00000248899.6	37	c.314	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864678	0.91511	.	.	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	D;T;T	0.86627	-2.15;-0.31;-0.31	4.64	4.64	0.57946	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.95370	0.8497	M	0.94142	3.5	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96903	0.9661	10	0.87932	D	0	-27.8717	17.0944	0.86631	0.0:0.0:1.0:0.0	.	105;105	A8K4F9;Q15080	.;NCF4_HUMAN	Q	2;105;105	ENSP00000414958:R2Q;ENSP00000248899:R105Q;ENSP00000380334:R105Q	ENSP00000248899:R105Q	R	+	2	0	NCF4	35593422	1.000000	0.71417	0.184000	0.23157	0.934000	0.57294	7.929000	0.87595	2.125000	0.65367	0.650000	0.86243	CGG	NCF4	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000100365		0.597	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	82	0.00	0	G	NM_000631		37263476	37263476	+1	no_errors	ENST00000397147	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	0.959	A
NCKAP1	10787	genome.wustl.edu	37	2	183790503	183790503	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:183790503G>T	ENST00000361354.4	-	31	3686	c.3314C>A	c.(3313-3315)tCt>tAt	p.S1105Y	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S1111Y|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1105					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGAAAACAAGATTCCAAAAG	0.299																																						dbGAP											0													115.0	112.0	113.0					2																	183790503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3314C>A	2.37:g.183790503G>T	ENSP00000355348:p.Ser1105Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.S1111Y	ENST00000361354.4	37	c.3332	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231313	0.79688	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38560	1.13;1.13	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.67103	0.949;0.916	T	0.74228	-0.3733	10	0.87932	D	0	-13.3755	19.6332	0.95719	0.0:0.0:1.0:0.0	.	1105;1111	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Y	1105;1111	ENSP00000355348:S1105Y;ENSP00000354251:S1111Y	ENSP00000354251:S1111Y	S	-	2	0	NCKAP1	183498748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.634000	0.89283	0.650000	0.86243	TCT	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.299	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	215	0.00	0	G	NM_205842		183790503	183790503	-1	no_errors	ENST00000360982	ensembl	human	known	69_37n	missense	195	15.58	36	SNP	1.000	T
NCKAP1	10787	genome.wustl.edu	37	2	183850956	183850956	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:183850956C>A	ENST00000361354.4	-	10	1320		c.e10-1		NCKAP1_ENST00000360982.2_Splice_Site	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTATTATAGCTAGGTGCAAA	0.308																																						dbGAP											0													54.0	54.0	54.0					2																	183850956		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.948-1G>T	2.37:g.183850956C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60329|Q53QN5|Q53S94|Q53Y35	Splice_Site	SNP	-	e11-1	ENST00000361354.4	37	c.966-1	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443123	0.63067	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3985	0.90507	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP1	183559201	1.000000	0.71417	0.982000	0.44146	0.680000	0.39746	5.541000	0.67212	2.607000	0.88179	0.491000	0.48974	.	NCKAP1	-	-	ENSG00000061676		0.308	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	262	0.00	0	C	NM_205842	Intron	183850956	183850956	-1	no_errors	ENST00000360982	ensembl	human	known	69_37n	splice_site	148	12.94	22	SNP	1.000	A
NCKAP1	10787	genome.wustl.edu	37	2	183853877	183853877	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:183853877G>A	ENST00000361354.4	-	9	1200	c.828C>T	c.(826-828)gaC>gaT	p.D276D	NCKAP1_ENST00000360982.2_Silent_p.D282D	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	276					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTGCTGTAGCGTCAGTATTTA	0.383																																						dbGAP											0													91.0	85.0	87.0					2																	183853877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.828C>T	2.37:g.183853877G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	pfam_Nck-associated_protein-1	p.D282	ENST00000361354.4	37	c.846	CCDS2287.1	2																																																																																			NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	313	0.00	0	G	NM_205842		183853877	183853877	-1	no_errors	ENST00000360982	ensembl	human	known	69_37n	silent	231	10.42	27	SNP	0.981	A
NCKAP1	10787	genome.wustl.edu	37	2	183866921	183866921	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:183866921C>T	ENST00000361354.4	-	5	818	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R155Q	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	149					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R155Q(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTTCAATTCGAGACAGCAG	0.313																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											115.0	116.0	116.0					2																	183866921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.446G>A	2.37:g.183866921C>T	ENSP00000355348:p.Arg149Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.R155Q	ENST00000361354.4	37	c.464	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787492	0.90367	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38560	1.13;1.13	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.87547	2.89	0.80722	D	1	P;P	0.49358	0.855;0.923	B;B	0.40940	0.344;0.232	T	0.66288	-0.5961	10	0.62326	D	0.03	-7.3816	19.6582	0.95853	0.0:1.0:0.0:0.0	.	149;155	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Q	149;155	ENSP00000355348:R149Q;ENSP00000354251:R155Q	ENSP00000354251:R155Q	R	-	2	0	NCKAP1	183575166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.725000	0.93324	0.655000	0.94253	CGA	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	395	0.00	0	C	NM_205842		183866921	183866921	-1	no_errors	ENST00000360982	ensembl	human	known	69_37n	missense	290	12.12	40	SNP	1.000	T
NCKAP1L	3071	genome.wustl.edu	37	12	54936426	54936426	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54936426G>A	ENST00000293373.6	+	31	3420	c.3341G>A	c.(3340-3342)cGa>cAa	p.R1114Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R1064Q|RP11-1049A21.2_ENST00000547942.1_RNA	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1114					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R1114Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTCCTGCTTCGAAATGCCTAT	0.537																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											203.0	173.0	183.0					12																	54936426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3341G>A	12.37:g.54936426G>A	ENSP00000293373:p.Arg1114Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.R1114Q	ENST00000293373.6	37	c.3341	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.249362	0.95305	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57107	0.42;0.42	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.69762	0.3147	M	0.62723	1.935	0.58432	D	0.999995	D	0.71674	0.998	D	0.79108	0.992	T	0.68322	-0.5439	10	0.46703	T	0.11	-6.7923	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1114	P55160	NCKPL_HUMAN	Q	1114;1064	ENSP00000293373:R1114Q;ENSP00000445596:R1064Q	ENSP00000293373:R1114Q	R	+	2	0	NCKAP1L	53222693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.125000	0.89590	2.802000	0.96397	0.655000	0.94253	CGA	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.537	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	279	0.00	0	G	NM_005337		54936426	54936426	+1	no_errors	ENST00000293373	ensembl	human	known	69_37n	missense	133	26.78	49	SNP	1.000	A
NCKAP5	344148	genome.wustl.edu	37	2	133543153	133543153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:133543153G>A	ENST00000409261.1	-	14	1604	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R411*|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	411								p.R411*(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AACACTTTTCGCTTCTGTAGC	0.408																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											107.0	100.0	102.0					2																	133543153		1857	4098	5955	-	-	-	SO:0001587	stop_gained	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1231C>T	2.37:g.133543153G>A	ENSP00000387128:p.Arg411*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Nonsense_Mutation	SNP	NULL	p.R411*	ENST00000409261.1	37	c.1231	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	g	40	8.087461	0.98648	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	.	.	.	5.23	3.31	0.37934	.	0.287028	0.18606	U	0.136307	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8883	0.29663	0.079:0.0:0.7274:0.1937	.	.	.	.	X	411	.	ENSP00000380603:R411X	R	-	1	2	NCKAP5	133259623	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.540000	0.23191	0.642000	0.30620	0.645000	0.84053	CGA	NCKAP5	-	NULL	ENSG00000176771		0.408	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	212	0.00	0	G	NM_207481		133543153	133543153	-1	no_errors	ENST00000317721	ensembl	human	known	69_37n	nonsense	179	11.39	23	SNP	1.000	A
NCKAP5L	57701	genome.wustl.edu	37	12	50187179	50187179	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50187179G>A	ENST00000335999.6	-	10	3497	c.3296C>T	c.(3295-3297)tCg>tTg	p.S1099L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1095	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTCCTCCGAGGGCATCTC	0.662																																						dbGAP											0													47.0	58.0	54.0					12																	50187179		2139	4244	6383	-	-	-	SO:0001583	missense	0			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3296C>T	12.37:g.50187179G>A	ENSP00000337998:p.Ser1099Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	NULL	p.S1099L	ENST00000335999.6	37	c.3296	CCDS41781.2	12	.	.	.	.	.	.	.	.	.	.	G	15.88	2.965066	0.53507	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.50277	0.75	4.29	4.29	0.51040	.	0.228496	0.22840	N	0.054985	T	0.35624	0.0938	L	0.29908	0.895	0.43347	D	0.995405	P;B;P	0.43885	0.82;0.001;0.82	B;B;B	0.38458	0.274;0.002;0.274	T	0.28554	-1.0040	10	0.45353	T	0.12	-1.0324	14.1314	0.65257	0.0:0.0:1.0:0.0	.	1073;1095;1095	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	L	1099;1073	ENSP00000337998:S1099L	ENSP00000337998:S1099L	S	-	2	0	NCKAP5L	48473446	0.101000	0.21875	0.079000	0.20413	0.975000	0.68041	2.834000	0.48167	2.382000	0.81193	0.655000	0.94253	TCG	NCKAP5L	-	NULL	ENSG00000167566		0.662	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	HGNC	protein_coding	OTTHUMT00000346884.2	64	0.00	0	G	XM_035497		50187179	50187179	-1	no_errors	ENST00000335999	ensembl	human	known	69_37n	missense	24	19.35	6	SNP	0.757	A
NCOA6	23054	genome.wustl.edu	37	20	33315108	33315108	+	Missense_Mutation	SNP	G	G	A	rs143707360		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:33315108G>A	ENST00000374796.2	-	15	8673	c.6103C>T	c.(6103-6105)Cgt>Tgt	p.R2035C	NCOA6_ENST00000359003.2_Missense_Mutation_p.R2035C			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2035	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATCGTTTACGATGTCCATTT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20071	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													193.0	175.0	181.0					20																	33315108		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.6103C>T	20.37:g.33315108G>A	ENSP00000363929:p.Arg2035Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.R2035C	ENST00000374796.2	37	c.6103	CCDS13241.1	20	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.1	4.371848	0.82573	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37752	1.18;1.18	4.88	2.85	0.33270	.	0.000000	0.56097	D	0.000029	T	0.32010	0.0815	N	0.24115	0.695	0.58432	D	0.999996	D	0.76494	0.999	P	0.53146	0.719	T	0.05954	-1.0854	10	0.72032	D	0.01	-1.4607	8.3994	0.32576	0.0846:0.0:0.7588:0.1566	.	2035	Q14686	NCOA6_HUMAN	C	2035	ENSP00000363929:R2035C;ENSP00000351894:R2035C	ENSP00000351894:R2035C	R	-	1	0	NCOA6	32778769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.682000	0.46934	2.537000	0.85549	0.561000	0.74099	CGT	NCOA6	-	NULL	ENSG00000198646		0.468	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	472	0.00	0	G	NM_014071		33315108	33315108	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	missense	303	29.70	128	SNP	1.000	A
NCOR1	9611	genome.wustl.edu	37	17	16042501	16042501	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:16042501C>A	ENST00000268712.3	-	12	1431		c.e12-1		NCOR1_ENST00000395851.1_Splice_Site|RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395848.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCATTATTCTGGAAAAAAA	0.358																																						dbGAP											0													35.0	35.0	35.0					17																	16042501		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1174-1G>T	17.37:g.16042501C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Splice_Site	SNP	-	e11-1	ENST00000268712.3	37	c.1174-1	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276863	0.80580	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1509	0.89674	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR1	15983226	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	.	NCOR1	-	-	ENSG00000141027		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	91	0.00	0	C	NM_006311	Intron	16042501	16042501	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	splice_site	27	34.15	14	SNP	1.000	A
NDE1	54820	genome.wustl.edu	37	16	15771733	15771733	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:15771733G>T	ENST00000396353.2	+	5	1139	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	NDE1_ENST00000396355.1_Missense_Mutation_p.A105S|NDE1_ENST00000396354.1_Missense_Mutation_p.A105S|NDE1_ENST00000342673.5_Missense_Mutation_p.A105S			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	105	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GCAGACCAAAGCCATTAAAGA	0.507																																						dbGAP											0													112.0	101.0	104.0					16																	15771733		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.313G>T	16.37:g.15771733G>T	ENSP00000379641:p.Ala105Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.A105S	ENST00000396353.2	37	c.313		16	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073328	0.55646	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.18	5.18	0.71444	.	0.048327	0.85682	D	0.000000	T	0.66616	0.2807	L	0.41632	1.29	0.80722	D	1	D;B	0.76494	0.999;0.129	D;B	0.81914	0.995;0.139	T	0.58521	-0.7622	9	0.12103	T	0.63	-6.484	18.0781	0.89433	0.0:0.0:1.0:0.0	.	105;105	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	S	105	.	ENSP00000345892:A105S	A	+	1	0	NDE1	15679234	1.000000	0.71417	0.475000	0.27278	0.660000	0.38997	7.908000	0.87438	2.572000	0.86782	0.655000	0.94253	GCC	NDE1	-	NULL	ENSG00000072864		0.507	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		225	0.00	0	G	NM_017668		15771733	15771733	+1	no_errors	ENST00000396353	ensembl	human	known	69_37n	missense	202	15.06	36	SNP	1.000	T
NDE1	54820	genome.wustl.edu	37	16	15781284	15781284	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:15781284G>A	ENST00000396353.2	+	6	1265	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CTB-193M12.3_ENST00000576454.1_RNA|NDE1_ENST00000396355.1_Missense_Mutation_p.E147K|NDE1_ENST00000396354.1_Missense_Mutation_p.E147K|NDE1_ENST00000342673.5_Missense_Mutation_p.E147K			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	147	Interaction with PAFAH1B1. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TCAGGCCATCGAAAGAAATGC	0.488																																						dbGAP											0													81.0	84.0	83.0					16																	15781284		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.439G>A	16.37:g.15781284G>A	ENSP00000379641:p.Glu147Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.E147K	ENST00000396353.2	37	c.439		16	.	.	.	.	.	.	.	.	.	.	G	35	5.533707	0.96460	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.86	5.86	0.93980	NUDE protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87620	0.2509	9	0.66056	D	0.02	-26.0738	19.1736	0.93590	0.0:0.0:1.0:0.0	.	147;147	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	K	147	.	ENSP00000345892:E147K	E	+	1	0	NDE1	15688785	1.000000	0.71417	0.987000	0.45799	0.735000	0.41995	9.864000	0.99589	2.766000	0.95052	0.591000	0.81541	GAA	NDE1	-	pfam_NUDE_C	ENSG00000072864		0.488	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		124	0.00	0	G	NM_017668		15781284	15781284	+1	no_errors	ENST00000396353	ensembl	human	known	69_37n	missense	80	17.53	17	SNP	1.000	A
NDNF	79625	genome.wustl.edu	37	4	121961203	121961203	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:121961203G>T	ENST00000379692.4	-	3	721	c.195C>A	c.(193-195)ttC>ttA	p.F65L	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	65					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAACCACAAAGAAATACCTGT	0.418																																						dbGAP											0													103.0	98.0	100.0					4																	121961203		1862	4120	5982	-	-	-	SO:0001583	missense	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.195C>A	4.37:g.121961203G>T	ENSP00000369014:p.Phe65Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.F65L	ENST00000379692.4	37	c.195	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714852	0.48622	.	.	ENSG00000173376	ENST00000379692;ENST00000515757;ENST00000511408	.	.	.	5.64	3.92	0.45320	.	0.099879	0.64402	D	0.000001	T	0.54240	0.1846	L	0.47716	1.5	0.42236	D	0.991916	B	0.18968	0.032	B	0.21151	0.033	T	0.52711	-0.8539	9	0.66056	D	0.02	-24.3141	10.2957	0.43623	0.2654:0.0:0.7346:0.0	.	65	Q8TB73	NDNF_HUMAN	L	65	.	ENSP00000369014:F65L	F	-	3	2	NDNF	122180653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.467000	0.35321	0.738000	0.32606	0.563000	0.77884	TTC	NDNF	-	NULL	ENSG00000173376		0.418	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	169	0.00	0	G	NM_024574		121961203	121961203	-1	no_errors	ENST00000379692	ensembl	human	known	69_37n	missense	117	10.69	14	SNP	1.000	T
NDST1	3340	genome.wustl.edu	37	5	149907581	149907581	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:149907581G>A	ENST00000261797.6	+	3	1231	c.729G>A	c.(727-729)acG>acA	p.T243T	NDST1_ENST00000523767.1_Silent_p.T243T	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	243	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCAAGACGCGCTCGTCTG	0.647																																						dbGAP											0													42.0	36.0	38.0					5																	149907581		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.729G>A	5.37:g.149907581G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96E57	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.T243	ENST00000261797.6	37	c.729	CCDS34277.1	5																																																																																			NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.647	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	47	0.00	0	G	NM_001543		149907581	149907581	+1	no_errors	ENST00000261797	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	1.000	A
NDUFB9	4715	genome.wustl.edu	37	8	125559267	125559267	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:125559267G>T	ENST00000276689.3	+	3	405	c.321G>T	c.(319-321)tgG>tgT	p.W107C	NDUFB9_ENST00000518008.1_Missense_Mutation_p.W107C|NDUFB9_ENST00000517367.1_Missense_Mutation_p.W96C|NDUFB9_ENST00000522532.1_Missense_Mutation_p.W107C	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	107					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGATGACTGGCATCCTTCTG	0.493																																						dbGAP											0													246.0	238.0	241.0					8																	125559267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.321G>T	8.37:g.125559267G>T	ENSP00000276689:p.Trp107Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M6|Q9UQE8	Missense_Mutation	SNP	pfam_Complex1_LYR	p.W107C	ENST00000276689.3	37	c.321	CCDS6352.1	8	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364792	0.61513	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	D;D;D;D	0.95069	-2.57;-3.6;-3.44;-2.32	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.98285	1.0510	10	0.87932	D	0	-21.505	19.2485	0.93913	0.0:0.0:1.0:0.0	.	107;107	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	C	107;107;107;96	ENSP00000276689:W107C;ENSP00000428282:W107C;ENSP00000431115:W107C;ENSP00000430322:W96C	ENSP00000276689:W107C	W	+	3	0	NDUFB9	125628448	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	9.289000	0.96061	2.558000	0.86282	0.563000	0.77884	TGG	NDUFB9	-	NULL	ENSG00000147684		0.493	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB9	HGNC	protein_coding	OTTHUMT00000381606.1	323	0.00	0	G	NM_005005		125559267	125559267	+1	no_errors	ENST00000276689	ensembl	human	known	69_37n	missense	219	25.00	73	SNP	1.000	T
NDUFS2	4720	genome.wustl.edu	37	1	161173234	161173234	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161173234C>T	ENST00000367993.3	+	3	551	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	NDUFS2_ENST00000476409.2_Intron|NDUFS2_ENST00000392179.4_Missense_Mutation_p.R35W	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	35					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CAGAGGTGTTCGGCAGTGGCA	0.537																																						dbGAP											0													64.0	60.0	62.0					1																	161173234		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.103C>T	1.37:g.161173234C>T	ENSP00000356972:p.Arg35Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	p.R35W	ENST00000367993.3	37	c.103	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100364	0.76983	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.85955	-2.04;-2.05	4.94	4.94	0.65067	.	0.079450	0.51477	D	0.000087	T	0.74412	0.3713	N	0.14661	0.345	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.54629	0.757;0.757	T	0.76785	-0.2831	10	0.38643	T	0.18	.	10.7019	0.45933	0.1901:0.8099:0.0:0.0	.	35;35	Q53HG2;O75306	.;NDUS2_HUMAN	W	35	ENSP00000356972:R35W;ENSP00000376018:R35W	ENSP00000356972:R35W	R	+	1	2	NDUFS2	159439858	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	2.915000	0.48805	2.563000	0.86464	0.655000	0.94253	CGG	NDUFS2	-	NULL	ENSG00000158864		0.537	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	118	0.00	0	C	NM_004550		161173234	161173234	+1	no_errors	ENST00000367993	ensembl	human	known	69_37n	missense	90	21.05	24	SNP	1.000	T
NDUFS2	4720	genome.wustl.edu	37	1	161183978	161183978	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161183978C>T	ENST00000367993.3	+	15	1835	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	NDUFS2_ENST00000465923.1_3'UTR|FCER1G_ENST00000367992.3_5'Flank|FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000392179.4_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	463					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	AGAAGTAGATCGGTGAGCAGG	0.468																																						dbGAP											0													114.0	93.0	100.0					1																	161183978		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1387C>T	1.37:g.161183978C>T	ENSP00000356972:p.Arg463Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	p.R463W	ENST00000367993.3	37	c.1387	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377680	0.61735	.	.	ENSG00000158864	ENST00000367993	D	0.92397	-3.03	5.35	3.44	0.39384	NADH-quinone oxidoreductase, subunit D (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	H	0.99535	4.615	0.31099	N	0.710612	D	0.89917	1.0	D	0.97110	1.0	D	0.96093	0.9063	9	0.87932	D	0	.	7.7397	0.28835	0.2879:0.6344:0.0:0.0776	.	463	O75306	NDUS2_HUMAN	W	463	ENSP00000356972:R463W	ENSP00000356972:R463W	R	+	1	2	NDUFS2	159450602	1.000000	0.71417	0.994000	0.49952	0.492000	0.33523	2.784000	0.47774	0.782000	0.33613	0.655000	0.94253	CGG	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	ENSG00000158864		0.468	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	362	0.00	0	C	NM_004550		161183978	161183978	+1	no_errors	ENST00000367993	ensembl	human	known	69_37n	missense	362	11.49	47	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152483720	152483720	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:152483720C>T	ENST00000172853.10	-	66	9562		c.e66-1		NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTAAATGTTCTGGAGAGATT	0.378																																						dbGAP											0													77.0	73.0	74.0					2																	152483720		1877	4095	5972	-	-	-	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9415-1G>A	2.37:g.152483720C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Splice_Site	SNP	-	e68-1	ENST00000172853.10	37	c.10144-1		2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161880	0.78226	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5244	0.95197	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEB	152191966	1.000000	0.71417	0.995000	0.50966	0.720000	0.41350	7.590000	0.82653	2.687000	0.91594	0.655000	0.94253	.	NEB	-	-	ENSG00000183091		0.378	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		255	0.00	0	C	NM_004543	Intron	152483720	152483720	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	splice_site	168	12.89	25	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152547256	152547256	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:152547256C>T	ENST00000172853.10	-	24	2442	c.2295G>A	c.(2293-2295)acG>acA	p.T765T	NEB_ENST00000603639.1_Silent_p.T765T|NEB_ENST00000397345.3_Silent_p.T765T|NEB_ENST00000427231.2_Silent_p.T765T|NEB_ENST00000409198.1_Silent_p.T765T|NEB_ENST00000604864.1_Silent_p.T765T			P20929	NEBU_HUMAN	nebulin	765					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAAGCTGTTTCGTGTTGAGCT	0.403																																						dbGAP											0													109.0	107.0	107.0					2																	152547256		1958	4153	6111	-	-	-	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2295G>A	2.37:g.152547256C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.T765	ENST00000172853.10	37	c.2295		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.403	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		523	0.19	1	C	NM_004543		152547256	152547256	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	272	25.75	95	SNP	0.994	T
NEB	4703	genome.wustl.edu	37	2	152553955	152553955	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:152553955G>T	ENST00000172853.10	-	15	1421	c.1274C>A	c.(1273-1275)tCc>tAc	p.S425Y	NEB_ENST00000603639.1_Missense_Mutation_p.S425Y|NEB_ENST00000397345.3_Missense_Mutation_p.S425Y|NEB_ENST00000427231.2_Missense_Mutation_p.S425Y|NEB_ENST00000409198.1_Missense_Mutation_p.S425Y|NEB_ENST00000604864.1_Missense_Mutation_p.S425Y			P20929	NEBU_HUMAN	nebulin	425					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTAAGTAGGAATCTTTATA	0.333																																						dbGAP											0													132.0	123.0	126.0					2																	152553955		1820	4077	5897	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1274C>A	2.37:g.152553955G>T	ENSP00000172853:p.Ser425Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.S425Y	ENST00000172853.10	37	c.1274		2	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905133	0.52333	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.06528	3.29;3.31;3.31;3.3	5.97	5.97	0.96955	.	0.244321	0.42294	D	0.000724	T	0.07863	0.0197	L	0.36672	1.1	0.80722	D	1	P	0.45428	0.858	B	0.43225	0.412	T	0.03483	-1.1032	10	0.66056	D	0.02	.	11.6346	0.51196	0.0:0.1335:0.7281:0.1385	.	425	P20929	NEBU_HUMAN	Y	425;425;425;425;151	ENSP00000386259:S425Y;ENSP00000380505:S425Y;ENSP00000416578:S425Y;ENSP00000172853:S425Y	ENSP00000172853:S425Y	S	-	2	0	NEB	152262201	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.414000	0.52693	2.837000	0.97791	0.655000	0.94253	TCC	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		768	0.00	0	G	NM_004543		152553955	152553955	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	644	11.64	85	SNP	1.000	T
NECAB2	54550	genome.wustl.edu	37	16	84012114	84012114	+	Nonsense_Mutation	SNP	G	G	T	rs143707961		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:84012114G>T	ENST00000305202.4	+	3	309	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	NECAB2_ENST00000565691.1_Missense_Mutation_p.K23N	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	98	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						TAATGAGAAAGAACTGGAGGA	0.522																																						dbGAP											0													155.0	138.0	144.0					16																	84012114		2200	4300	6500	-	-	-	SO:0001587	stop_gained	0			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.292G>T	16.37:g.84012114G>T	ENSP00000307449:p.Glu98*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG3|O75547|Q6ZSK0	Nonsense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E98*	ENST00000305202.4	37	c.292	CCDS10940.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.177963	0.97352	.	.	ENSG00000103154	ENST00000305202	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.34947	D	0.750897	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.522	15.4743	0.75465	0.0:0.0:1.0:0.0	.	.	.	.	X	98	.	ENSP00000307449:E98X	E	+	1	0	NECAB2	82569615	1.000000	0.71417	0.701000	0.30321	0.620000	0.37586	8.945000	0.92985	2.249000	0.74217	0.591000	0.81541	GAA	NECAB2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000103154		0.522	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB2	HGNC	protein_coding	OTTHUMT00000269077.2	108	0.00	0	G	NM_019065		84012114	84012114	+1	no_errors	ENST00000305202	ensembl	human	known	69_37n	nonsense	71	11.25	9	SNP	1.000	T
NEDD4	4734	genome.wustl.edu	37	15	56216855	56216855	+	Missense_Mutation	SNP	C	C	T	rs547250575		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:56216855C>T	ENST00000435532.3	-	5	470	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_006154.2	NP_006145.2	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1189	Ser-rich.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.E94K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AATCGGTTTTCGTCAAACACT	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		19972	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											56.0	54.0	55.0					15																	56216855		1854	4085	5939	-	-	-	SO:0001583	missense	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000435532.3:c.280G>A	15.37:g.56216855C>T	ENSP00000410613:p.Glu94Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.E94K	ENST00000435532.3	37	c.280	CCDS45265.1	15	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899823	0.91962	.	.	ENSG00000069869	ENST00000435532	T	0.69306	-0.39	5.56	5.56	0.83823	.	.	.	.	.	D	0.82917	0.5141	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.84932	0.0860	8	0.87932	D	0	.	18.5333	0.91000	0.0:1.0:0.0:0.0	.	94	P46934-4	.	K	94	ENSP00000410613:E94K	ENSP00000410613:E94K	E	-	1	0	NEDD4	54004147	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.636000	0.74299	2.629000	0.89072	0.655000	0.94253	GAA	NEDD4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000069869		0.393	NEDD4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359821.2	256	0.39	1	C	NM_198400		56216855	56216855	-1	no_errors	ENST00000435532	ensembl	human	known	69_37n	missense	254	10.84	31	SNP	1.000	T
NEFH	4744	genome.wustl.edu	37	22	29885311	29885311	+	Missense_Mutation	SNP	C	C	T	rs548556825		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:29885311C>T	ENST00000310624.6	+	4	1715	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	561	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GCAAAGTCACCGCCTGAGGCC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21948	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													67.0	70.0	69.0					22																	29885311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1682C>T	22.37:g.29885311C>T	ENSP00000311997:p.Pro561Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.P561L	ENST00000310624.6	37	c.1682	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135205	0.56828	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.85171	-1.95	5.04	5.04	0.67666	.	0.000000	0.44688	D	0.000433	T	0.77177	0.4092	L	0.27053	0.805	0.23366	N	0.997829	P	0.37398	0.593	B	0.36335	0.222	T	0.74134	-0.3763	10	0.87932	D	0	.	13.0027	0.58685	0.1616:0.8384:0.0:0.0	.	561	P12036	NFH_HUMAN	L	561	ENSP00000311997:P561L	ENSP00000311997:P561L	P	+	2	0	NEFH	28215311	0.066000	0.20996	0.058000	0.19502	0.007000	0.05969	-0.022000	0.12480	2.324000	0.78689	0.655000	0.94253	CCG	NEFH	-	NULL	ENSG00000100285		0.567	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	207	0.00	0	C	NM_021076		29885311	29885311	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	missense	226	25.90	79	SNP	0.161	T
NEFM	4741	genome.wustl.edu	37	8	24774573	24774573	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:24774573G>T	ENST00000221166.5	+	3	1987		c.e3-1		NEFM_ENST00000521540.1_Splice_Site|NEFM_ENST00000518131.1_Splice_Site|NEFM_ENST00000433454.2_Splice_Site|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Splice_Site			P07197	NFM_HUMAN	neurofilament, medium polypeptide						axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTTCTCCTTAGAAAACTCCTG	0.408																																						dbGAP											0													54.0	58.0	57.0					8																	24774573		2202	4297	6499	-	-	-	SO:0001630	splice_region_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1206-1G>T	8.37:g.24774573G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGN2|E9PBF7|Q4QRK6	Splice_Site	SNP	-	e3-1	ENST00000221166.5	37	c.1206-1	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	13.85	2.361191	0.41801	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7802	0.91928	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEFM	24830478	1.000000	0.71417	0.986000	0.45419	0.259000	0.26198	9.772000	0.98984	2.491000	0.84063	0.655000	0.94253	.	NEFM	-	-	ENSG00000104722		0.408	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	39	0.00	0	G	NM_005382	Intron	24774573	24774573	+1	no_errors	ENST00000221166	ensembl	human	known	69_37n	splice_site	19	38.71	12	SNP	1.000	T
NEFL	4747	genome.wustl.edu	37	8	24813791	24813791	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:24813791C>T	ENST00000221169.5	-	0	833				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGTCGTTGCTGATGGCGGC	0.627																																						dbGAP											0													29.0	33.0	32.0					8																	24813791		2171	4273	6444	-	-	-			0				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813791C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVN2|Q16154|Q8IU72	RNA	SNP	-	NULL	ENST00000221169.5	37	NULL		8																																																																																			NEFL	-	-	ENSG00000104725		0.627	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	HGNC	processed_transcript	OTTHUMT00000258943.4	84	0.00	0	C	NM_006158		24813791	24813791	-1	no_errors	ENST00000221169	ensembl	human	known	69_37n	rna	42	21.82	12	SNP	1.000	T
NEK1	4750	genome.wustl.edu	37	4	170477099	170477099	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:170477099G>A	ENST00000439128.2	-	16	2054	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	NEK1_ENST00000511633.1_Nonsense_Mutation_p.R472*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.R447*|NEK1_ENST00000510533.1_Nonsense_Mutation_p.R472*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.R472*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	472					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GGAAGACCTCGACCATATATT	0.383																																						dbGAP											0													166.0	151.0	156.0					4																	170477099		1847	4104	5951	-	-	-	SO:0001587	stop_gained	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1414C>T	4.37:g.170477099G>A	ENSP00000408020:p.Arg472*	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R472*	ENST00000439128.2	37	c.1414	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.296631	0.98747	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.	.	.	5.66	3.79	0.43588	.	0.930658	0.09026	N	0.859470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1412	0.53998	0.0:0.1305:0.7339:0.1356	.	.	.	.	X	472;472;472;472;447	.	ENSP00000408020:R472X	R	-	1	2	NEK1	170713674	0.689000	0.27690	0.229000	0.23960	0.511000	0.34104	2.935000	0.48963	1.364000	0.46038	0.585000	0.79938	CGA	NEK1	-	NULL	ENSG00000137601		0.383	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	486	0.00	0	G			170477099	170477099	-1	no_errors	ENST00000507142	ensembl	human	known	69_37n	nonsense	308	18.04	68	SNP	0.011	A
NEIL3	55247	genome.wustl.edu	37	4	178256872	178256872	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:178256872G>T	ENST00000264596.3	+	3	427	c.309G>T	c.(307-309)atG>atT	p.M103I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	103					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GCTTCATCATGATTAATCCAC	0.333								Base excision repair (BER), DNA glycosylases																														dbGAP											0													61.0	68.0	66.0					4																	178256872		2199	4299	6498	-	-	-	SO:0001583	missense	0			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.309G>T	4.37:g.178256872G>T	ENSP00000264596:p.Met103Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.M103I	ENST00000264596.3	37	c.309	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	G	5.542	0.284825	0.10513	.	.	ENSG00000109674	ENST00000264596	T	0.28255	1.62	5.14	3.38	0.38709	DNA glycosylase/AP lyase, catalytic domain (2);	0.896359	0.09856	N	0.746875	T	0.12433	0.0302	N	0.02011	-0.69	0.23036	N	0.9984	B	0.02656	0.0	B	0.04013	0.001	T	0.30765	-0.9967	10	0.21540	T	0.41	0.3662	9.1384	0.36888	0.0795:0.2976:0.623:0.0	.	103	Q8TAT5	NEIL3_HUMAN	I	103	ENSP00000264596:M103I	ENSP00000264596:M103I	M	+	3	0	NEIL3	178493866	0.103000	0.21917	0.938000	0.37757	0.839000	0.47603	0.360000	0.20250	0.717000	0.32145	0.561000	0.74099	ATG	NEIL3	-	superfamily_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	ENSG00000109674		0.333	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	131	0.00	0	G	NM_018248		178256872	178256872	+1	no_errors	ENST00000264596	ensembl	human	known	69_37n	missense	96	26.72	35	SNP	0.982	T
NEK10	152110	genome.wustl.edu	37	3	27332819	27332819	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:27332819C>T	ENST00000429845.2	-	19	1901	c.1539G>A	c.(1537-1539)ttG>ttA	p.L513L	NEK10_ENST00000341435.5_Silent_p.L513L|NEK10_ENST00000357467.2_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	513			L -> S (in dbSNP:rs10510592). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:17974005}.		positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTATATATTTCAAAGGAGCTT	0.358																																						dbGAP											0													142.0	131.0	134.0					3																	27332819		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1539G>A	3.37:g.27332819C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L513	ENST00000429845.2	37	c.1539		3																																																																																			NEK10	-	superfamily_Kinase-like_dom	ENSG00000163491		0.358	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	654	0.00	0	C	NM_152534		27332819	27332819	-1	no_errors	ENST00000341435	ensembl	human	known	69_37n	silent	435	11.92	59	SNP	0.928	T
NEK10	152110	genome.wustl.edu	37	3	27394316	27394316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:27394316C>A	ENST00000429845.2	-	3	420	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.E20*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	20					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATGGTGATTTCTTGCTGTTTA	0.373																																						dbGAP											0													191.0	162.0	171.0					3																	27394316		1568	3582	5150	-	-	-	SO:0001587	stop_gained	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.58G>T	3.37:g.27394316C>A	ENSP00000395849:p.Glu20*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E20*	ENST00000429845.2	37	c.58		3	.	.	.	.	.	.	.	.	.	.	C	38	7.171880	0.98111	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750;ENST00000429845	.	.	.	5.77	5.77	0.91146	.	0.421302	0.24730	N	0.036065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.7585	0.88457	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000343847:E20X	E	-	1	0	NEK10	27369320	1.000000	0.71417	0.959000	0.39883	0.708000	0.40852	5.240000	0.65378	2.715000	0.92844	0.655000	0.94253	GAA	NEK10	-	NULL	ENSG00000163491		0.373	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	729	0.00	0	C	NM_152534		27394316	27394316	-1	no_errors	ENST00000341435	ensembl	human	known	69_37n	nonsense	598	24.84	198	SNP	0.991	A
NEK11	79858	genome.wustl.edu	37	3	130962291	130962291	+	Silent	SNP	C	C	T	rs576244190		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130962291C>T	ENST00000510769.1	+	12	1510	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	NEK11_ENST00000510688.1_Silent_p.I524I|NEK11_ENST00000383366.4_Silent_p.I524I|NEK11_ENST00000412440.2_Silent_p.I340I|NEK11_ENST00000508196.1_Silent_p.I524I|NEK11_ENST00000429253.2_Silent_p.I524I					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACAGTGATATCGAAGCGTTGG	0.383																																						dbGAP											0													149.0	145.0	146.0					3																	130962291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1257C>T	3.37:g.130962291C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I524	ENST00000510769.1	37	c.1572		3																																																																																			NEK11	-	NULL	ENSG00000114670		0.383	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	1066	0.00	0	C	NM_024800		130962291	130962291	+1	no_errors	ENST00000383366	ensembl	human	known	69_37n	silent	594	29.35	248	SNP	0.001	T
NEK5	341676	genome.wustl.edu	37	13	52661578	52661578	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:52661578A>G	ENST00000355568.4	-	15	1427	c.1288T>C	c.(1288-1290)Tct>Cct	p.S430P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	430					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)		TCGGCAGAAGATGGACGAAGA	0.358																																						dbGAP											0													122.0	114.0	117.0					13																	52661578		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.1288T>C	13.37:g.52661578A>G	ENSP00000347767:p.Ser430Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S430P	ENST00000355568.4	37	c.1288	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620934	0.66787	.	.	ENSG00000197168	ENST00000355568	T	0.75367	-0.93	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000003	D	0.82939	0.5146	M	0.63843	1.955	0.28289	N	0.923637	D	0.89917	1.0	D	0.85130	0.997	T	0.77563	-0.2541	10	0.45353	T	0.12	.	11.9097	0.52733	1.0:0.0:0.0:0.0	.	430	Q6P3R8	NEK5_HUMAN	P	430	ENSP00000347767:S430P	ENSP00000347767:S430P	S	-	1	0	NEK5	51559579	0.999000	0.42202	1.000000	0.80357	0.723000	0.41478	3.199000	0.51043	2.060000	0.61445	0.533000	0.62120	TCT	NEK5	-	NULL	ENSG00000197168		0.358	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	203	0.00	0	A	NM_199289		52661578	52661578	-1	no_errors	ENST00000355568	ensembl	human	known	69_37n	missense	139	12.03	19	SNP	1.000	G
NELL1	4745	genome.wustl.edu	37	11	20699495	20699495	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:20699495G>A	ENST00000357134.5	+	2	225	c.73G>A	c.(73-75)Gac>Aac	p.D25N	NELL1_ENST00000532434.1_Missense_Mutation_p.D25N|NELL1_ENST00000325319.5_Missense_Mutation_p.D25N|NELL1_ENST00000298925.5_Missense_Mutation_p.D53N	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	25					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTTGGGATGGACCCTGACCT	0.502																																						dbGAP											0													166.0	153.0	157.0					11																	20699495		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.73G>A	11.37:g.20699495G>A	ENSP00000349654:p.Asp25Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.D25N	ENST00000357134.5	37	c.73	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820598	0.90873	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;D;T	0.82167	-1.32;-1.39;-1.58;-1.32	6.11	5.2	0.72013	.	0.059103	0.64402	N	0.000005	D	0.90359	0.6983	M	0.75777	2.31	0.39015	D	0.959627	B;B;D;B	0.89917	0.006;0.012;1.0;0.007	B;B;D;B	0.97110	0.011;0.007;1.0;0.005	D	0.92126	0.5708	10	0.72032	D	0.01	-18.4572	14.1454	0.65347	0.0724:0.0:0.9276:0.0	.	25;53;25;25	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	N	53;25;25;25	ENSP00000298925:D53N;ENSP00000349654:D25N;ENSP00000317837:D25N;ENSP00000437170:D25N	ENSP00000298925:D53N	D	+	1	0	NELL1	20656071	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.185000	0.72013	1.600000	0.50102	0.655000	0.94253	GAC	NELL1	-	NULL	ENSG00000165973		0.502	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	692	0.00	0	G	NM_006157		20699495	20699495	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	missense	384	10.70	46	SNP	1.000	A
NELL1	4745	genome.wustl.edu	37	11	21392488	21392488	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:21392488G>A	ENST00000357134.5	+	15	1791	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	NELL1_ENST00000532434.1_Missense_Mutation_p.E547K|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.E490K|NELL1_ENST00000298925.5_Missense_Mutation_p.E575K	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	547	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.E547K(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGCCACTGCGAGAAAGGTAA	0.428																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											91.0	86.0	88.0					11																	21392488		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1639G>A	11.37:g.21392488G>A	ENSP00000349654:p.Glu547Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.E547K	ENST00000357134.5	37	c.1639	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.066121	0.93898	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.93307	-2.26;-2.26;-2.26;-3.2	5.59	5.59	0.84812	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	M	0.93420	3.415	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.988;0.981;0.998;0.972	D	0.97649	1.0153	10	0.46703	T	0.11	-20.9059	18.3657	0.90390	0.0:0.0:1.0:0.0	.	490;575;547;547	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	K	575;547;490;547	ENSP00000298925:E575K;ENSP00000349654:E547K;ENSP00000317837:E490K;ENSP00000437170:E547K	ENSP00000298925:E575K	E	+	1	0	NELL1	21349064	1.000000	0.71417	0.990000	0.47175	0.937000	0.57800	8.192000	0.89718	2.638000	0.89438	0.650000	0.86243	GAG	NELL1	-	smart_EGF-like,pfscan_EG-like_dom	ENSG00000165973		0.428	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	515	0.00	0	G	NM_006157		21392488	21392488	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	missense	233	28.88	95	SNP	1.000	A
NELL2	4753	genome.wustl.edu	37	12	45173691	45173691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:45173691C>T	ENST00000429094.2	-	4	954	c.450G>A	c.(448-450)tgG>tgA	p.W150*	NELL2_ENST00000551601.1_Nonsense_Mutation_p.W149*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.W173*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.W150*|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000549027.1_Nonsense_Mutation_p.W149*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.W200*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.W149*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	150	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGAGCTTGTGCCACTTGTCAT	0.438																																						dbGAP											0													166.0	147.0	153.0					12																	45173691		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.450G>A	12.37:g.45173691C>T	ENSP00000390680:p.Trp150*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.W200*	ENST00000429094.2	37	c.600	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.265725	0.95399	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.0223	19.4004	0.94627	0.0:1.0:0.0:0.0	.	.	.	.	X	149;150;149;150;149;173;200;149;150;147	.	ENSP00000327988:W173X	W	-	3	0	NELL2	43459958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.771000	0.85420	2.577000	0.86979	0.655000	0.94253	TGG	NELL2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000184613		0.438	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	201	0.00	0	C	NM_006159		45173691	45173691	-1	no_errors	ENST00000437801	ensembl	human	known	69_37n	nonsense	150	13.29	23	SNP	1.000	T
NEMF	9147	genome.wustl.edu	37	14	50253456	50253456	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:50253456G>A	ENST00000298310.5	-	29	3357	c.2908C>T	c.(2908-2910)Ctg>Ttg	p.L970L	NEMF_ENST00000545773.1_Silent_p.L928L|NEMF_ENST00000382135.2_Silent_p.L170L|NEMF_ENST00000546046.1_Silent_p.L949L|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	970					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGTTGATCCAGATCTTGCTCT	0.333																																						dbGAP											0													118.0	105.0	110.0					14																	50253456		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2908C>T	14.37:g.50253456G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.L970	ENST00000298310.5	37	c.2908	CCDS9694.1	14																																																																																			NEMF	-	pfam_DUF3441	ENSG00000165525		0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	289	0.00	0	G	NM_004713		50253456	50253456	-1	no_errors	ENST00000298310	ensembl	human	known	69_37n	silent	215	10.42	25	SNP	0.994	A
NEMF	9147	genome.wustl.edu	37	14	50298028	50298028	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:50298028C>A	ENST00000298310.5	-	11	1383	c.934G>T	c.(934-936)Gct>Tct	p.A312S	NEMF_ENST00000545773.1_Missense_Mutation_p.A270S|NEMF_ENST00000546046.1_Missense_Mutation_p.A312S|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	312					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGTTGTAAAGCTTTTAAGTCA	0.343																																						dbGAP											0													129.0	132.0	131.0					14																	50298028		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.934G>T	14.37:g.50298028C>A	ENSP00000298310:p.Ala312Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.A312S	ENST00000298310.5	37	c.934	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371334	0.61624	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.44881	0.93;0.91;0.94;0.92	5.42	5.42	0.78866	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.65677	2.01	0.80722	D	1	B;B;B;B;B	0.29955	0.046;0.09;0.1;0.171;0.263	B;B;B;B;B	0.37833	0.06;0.085;0.087;0.087;0.259	T	0.40608	-0.9554	10	0.09338	T	0.73	-4.6283	18.7911	0.91974	0.0:1.0:0.0:0.0	.	312;83;287;270;312	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	S	312;270;312;83;270	ENSP00000298310:A312S;ENSP00000438309:A270S;ENSP00000441016:A312S;ENSP00000452540:A270S	ENSP00000298310:A312S	A	-	1	0	NEMF	49367778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.034000	0.76511	2.536000	0.85505	0.585000	0.79938	GCT	NEMF	-	pfam_Fibro-bd_N,superfamily_FlgN-like_dom	ENSG00000165525		0.343	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	593	0.00	0	C	NM_004713		50298028	50298028	-1	no_errors	ENST00000298310	ensembl	human	known	69_37n	missense	289	24.94	96	SNP	1.000	A
NES	10763	genome.wustl.edu	37	1	156641546	156641546	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156641546C>T	ENST00000368223.3	-	4	2566	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	812	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCTCTCTTCTTTGAGTGAC	0.423																																						dbGAP											0													99.0	91.0	93.0					1																	156641546		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2434G>A	1.37:g.156641546C>T	ENSP00000357206:p.Glu812Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E812K	ENST00000368223.3	37	c.2434	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051424	0.55218	.	.	ENSG00000132688	ENST00000368223	D	0.87571	-2.27	5.4	2.54	0.30619	.	0.478727	0.15632	N	0.252316	T	0.69169	0.3081	L	0.55990	1.75	0.09310	N	0.999992	P	0.35507	0.506	B	0.26864	0.074	T	0.62572	-0.6826	10	0.87932	D	0	.	8.2082	0.31467	0.0:0.7406:0.0:0.2594	.	812	P48681	NEST_HUMAN	K	812	ENSP00000357206:E812K	ENSP00000357206:E812K	E	-	1	0	NES	154908170	0.002000	0.14202	0.002000	0.10522	0.413000	0.31143	0.635000	0.24629	0.668000	0.31126	0.563000	0.77884	GAA	NES	-	NULL	ENSG00000132688		0.423	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	44	0.00	0	C	NM_006617		156641546	156641546	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.004	T
NES	10763	genome.wustl.edu	37	1	156642067	156642067	+	Missense_Mutation	SNP	G	G	T	rs148672848		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156642067G>T	ENST00000368223.3	-	4	2045	c.1913C>A	c.(1912-1914)tCt>tAt	p.S638Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	638	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTTCAAGAGATTTCATTAG	0.393																																						dbGAP											0													74.0	75.0	74.0					1																	156642067		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1913C>A	1.37:g.156642067G>T	ENSP00000357206:p.Ser638Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.S638Y	ENST00000368223.3	37	c.1913	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757682	0.69648	.	.	ENSG00000132688	ENST00000368223	D	0.87966	-2.32	4.87	2.68	0.31781	.	0.000000	0.32328	N	0.006256	T	0.81692	0.4876	M	0.76328	2.33	0.09310	N	0.999999	D	0.56968	0.978	P	0.52267	0.694	T	0.74711	-0.3573	10	0.48119	T	0.1	.	2.1467	0.03789	0.1141:0.1964:0.4855:0.2039	.	638	P48681	NEST_HUMAN	Y	638	ENSP00000357206:S638Y	ENSP00000357206:S638Y	S	-	2	0	NES	154908691	0.002000	0.14202	0.304000	0.25085	0.596000	0.36781	0.447000	0.21710	2.254000	0.74563	0.467000	0.42956	TCT	NES	-	NULL	ENSG00000132688		0.393	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	15	0.00	0	G	NM_006617		156642067	156642067	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.090	T
NEUROD6	63974	genome.wustl.edu	37	7	31377880	31377880	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:31377880A>C	ENST00000297142.3	-	2	1325	c.1003T>G	c.(1003-1005)Ttt>Gtt	p.F335V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	335					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TAATTATGAAAAACTGCATTT	0.438																																						dbGAP											0													55.0	54.0	54.0					7																	31377880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.1003T>G	7.37:g.31377880A>C	ENSP00000297142:p.Phe335Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q548T9|Q9H3H6	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.F335V	ENST00000297142.3	37	c.1003	CCDS5434.1	7	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242348	0.58995	.	.	ENSG00000164600	ENST00000297142	D	0.97906	-4.6	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.78456	2.415	0.80722	D	1	P	0.51653	0.947	D	0.65140	0.932	D	0.99612	1.0981	10	0.87932	D	0	-2.0811	14.9522	0.71083	1.0:0.0:0.0:0.0	.	335	Q96NK8	NDF6_HUMAN	V	335	ENSP00000297142:F335V	ENSP00000297142:F335V	F	-	1	0	NEUROD6	31344405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.904000	0.92590	1.933000	0.56026	0.528000	0.53228	TTT	NEUROD6	-	pirsf_TF_bHLH_NeuroD	ENSG00000164600		0.438	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD6	HGNC	protein_coding	OTTHUMT00000215050.1	215	0.00	0	A	NM_022728		31377880	31377880	-1	no_errors	ENST00000297142	ensembl	human	known	69_37n	missense	86	30.08	37	SNP	1.000	C
NEUROD6	63974	genome.wustl.edu	37	7	31378230	31378230	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:31378230G>A	ENST00000297142.3	-	2	975	c.653C>T	c.(652-654)aCt>aTt	p.T218I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	218					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTGGGGGAGTGGTGAGCTC	0.527																																						dbGAP											0													118.0	95.0	103.0					7																	31378230		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.653C>T	7.37:g.31378230G>A	ENSP00000297142:p.Thr218Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q548T9|Q9H3H6	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.T218I	ENST00000297142.3	37	c.653	CCDS5434.1	7	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392409	0.62066	.	.	ENSG00000164600	ENST00000297142	T	0.63913	-0.07	5.32	5.32	0.75619	Neurogenic differentiation factor, domain of unknown function (1);	0.048285	0.85682	D	0.000000	T	0.74831	0.3768	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.60415	0.874	T	0.77208	-0.2672	10	0.72032	D	0.01	-23.1128	19.0046	0.92844	0.0:0.0:1.0:0.0	.	218	Q96NK8	NDF6_HUMAN	I	218	ENSP00000297142:T218I	ENSP00000297142:T218I	T	-	2	0	NEUROD6	31344755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.414000	0.97362	2.481000	0.83766	0.650000	0.86243	ACT	NEUROD6	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000164600		0.527	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD6	HGNC	protein_coding	OTTHUMT00000215050.1	134	0.00	0	G	NM_022728		31378230	31378230	-1	no_errors	ENST00000297142	ensembl	human	known	69_37n	missense	68	29.90	29	SNP	1.000	A
NEXN	91624	genome.wustl.edu	37	1	78383873	78383873	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:78383873C>T	ENST00000334785.7	+	5	546	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEXN_ENST00000457030.1_Missense_Mutation_p.T121M|NEXN_ENST00000330010.8_Missense_Mutation_p.T57M|NEXN_ENST00000294624.8_Missense_Mutation_p.T121M	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGGAAGAGAACGGAGGAGGAA	0.368																																						dbGAP											0													129.0	127.0	128.0					1																	78383873		1887	4114	6001	-	-	-	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.362C>T	1.37:g.78383873C>T	ENSP00000333938:p.Thr121Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.T121M	ENST00000334785.7	37	c.362	CCDS41351.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.63|11.63	1.696412|1.696412	0.30142|0.30142	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	.|T;T;T;T;T;T	.|0.68331	.|-0.19;0.01;-0.01;-0.32;0.02;-0.25	5.75|5.75	3.9|3.9	0.45041|0.45041	.|.	.|0.121588	.|0.36665	.|N	.|0.002473	T|T	0.32041|0.32041	0.0816|0.0816	L|L	0.41573|0.41573	1.285|1.285	0.42288|0.42288	D|D	0.992126|0.992126	.|P;P;P;P	.|0.40515	.|0.597;0.719;0.597;0.597	.|B;B;B;B	.|0.26770	.|0.032;0.073;0.033;0.032	T|T	0.21415|0.21415	-1.0246|-1.0246	5|10	.|0.40728	.|T	.|0.16	-7.5164|-7.5164	8.8628|8.8628	0.35267|0.35267	0.0:0.7711:0.0:0.2289|0.0:0.7711:0.0:0.2289	.|.	.|57;121;121;57	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	W|M	21|57;121;57;121;121;121	.|ENSP00000383814:T57M;ENSP00000388048:T121M;ENSP00000327363:T57M;ENSP00000294624:T121M;ENSP00000333938:T121M;ENSP00000411902:T121M	.|ENSP00000294624:T121M	R|T	+|+	1|2	2|0	NEXN|NEXN	78156461|78156461	0.010000|0.010000	0.17322|0.17322	0.671000|0.671000	0.29857|0.29857	0.960000|0.960000	0.62799|0.62799	0.098000|0.098000	0.15189|0.15189	0.909000|0.909000	0.36697|0.36697	0.650000|0.650000	0.86243|0.86243	CGG|ACG	NEXN	-	NULL	ENSG00000162614		0.368	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	535	0.37	2	C	NM_144573		78383873	78383873	+1	no_errors	ENST00000334785	ensembl	human	known	69_37n	missense	367	14.32	62	SNP	0.854	T
NEXN	91624	genome.wustl.edu	37	1	78392441	78392441	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:78392441C>A	ENST00000334785.7	+	8	912	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	NEXN_ENST00000457030.1_Missense_Mutation_p.S229Y|NEXN_ENST00000330010.8_Missense_Mutation_p.S179Y	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAATCACTTTCTCCCGGAAAA	0.348																																						dbGAP											0													70.0	69.0	69.0					1																	78392441		1818	4073	5891	-	-	-	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.728C>A	1.37:g.78392441C>A	ENSP00000333938:p.Ser243Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.S243Y	ENST00000334785.7	37	c.728	CCDS41351.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.768292|1.768292	0.31320|0.31320	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T;T	.|0.65732	.|-0.17;0.24;0.16;0.25;-0.15	5.64|5.64	2.62|2.62	0.31277|0.31277	.|.	.|0.281930	.|0.25050	.|N	.|0.033527	T|T	0.37237|0.37237	0.0996|0.0996	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.31290	.|0.129;0.318;0.213;0.129	.|B;B;B;B	.|0.39419	.|0.157;0.299;0.157;0.157	T|T	0.18871|0.18871	-1.0323|-1.0323	5|10	.|0.38643	.|T	.|0.18	-0.5238|-0.5238	8.5374|8.5374	0.33371|0.33371	0.0:0.7309:0.0:0.2691|0.0:0.7309:0.0:0.2691	.|.	.|179;229;243;179	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	I|Y	143|179;229;179;243;229	.|ENSP00000383814:S179Y;ENSP00000388048:S229Y;ENSP00000327363:S179Y;ENSP00000333938:S243Y;ENSP00000411902:S229Y	.|ENSP00000327363:S179Y	L|S	+|+	1|2	0|0	NEXN|NEXN	78165029|78165029	0.998000|0.998000	0.40836|0.40836	0.675000|0.675000	0.29917|0.29917	0.759000|0.759000	0.43091|0.43091	1.193000|1.193000	0.32162|0.32162	0.240000|0.240000	0.21263|0.21263	0.655000|0.655000	0.94253|0.94253	CTC|TCT	NEXN	-	NULL	ENSG00000162614		0.348	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	121	0.00	0	C	NM_144573		78392441	78392441	+1	no_errors	ENST00000334785	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	0.998	A
NEXN	91624	genome.wustl.edu	37	1	78395130	78395130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:78395130G>T	ENST00000334785.7	+	9	1178	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	NEXN_ENST00000457030.1_Nonsense_Mutation_p.E318*|NEXN_ENST00000330010.8_Nonsense_Mutation_p.E268*	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		agcagaagaagaagccagaag	0.388																																						dbGAP											0													92.0	92.0	92.0					1																	78395130		1854	4095	5949	-	-	-	SO:0001587	stop_gained	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.994G>T	1.37:g.78395130G>T	ENSP00000333938:p.Glu332*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.E332*	ENST00000334785.7	37	c.994	CCDS41351.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.776165|6.776165	0.97829|0.97829	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.422095|.	0.19432|.	N|.	0.114418|.	.|T	.|0.65260	.|0.2674	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64305	.|-0.6439	.|4	0.40728|.	T|.	0.16|.	-12.9074|-12.9074	16.3994|16.3994	0.83633|0.83633	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	268;318;268;332;318|231	.|.	ENSP00000327363:E268X|.	E|K	+|+	1|3	0|2	NEXN|NEXN	78167718|78167718	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.919000|0.919000	0.55068|0.55068	6.671000|6.671000	0.74472|0.74472	2.475000|2.475000	0.83589|0.83589	0.591000|0.591000	0.81541|0.81541	GAA|AAG	NEXN	-	NULL	ENSG00000162614		0.388	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	547	0.00	0	G	NM_144573		78395130	78395130	+1	no_errors	ENST00000334785	ensembl	human	known	69_37n	nonsense	342	25.97	120	SNP	1.000	T
NEXN	91624	genome.wustl.edu	37	1	78395175	78395175	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:78395175G>A	ENST00000334785.7	+	9	1223	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T	NEXN_ENST00000457030.1_Missense_Mutation_p.A333T|NEXN_ENST00000330010.8_Missense_Mutation_p.A283T	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GTTTGCTGAAGCAAGGAGAAA	0.358																																						dbGAP											0													107.0	107.0	107.0					1																	78395175		1858	4103	5961	-	-	-	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1039G>A	1.37:g.78395175G>A	ENSP00000333938:p.Ala347Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.A347T	ENST00000334785.7	37	c.1039	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023239	0.54683	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	T;T;T;T;T	0.70282	-0.47;0.08;-0.27;-0.21;-0.47	5.17	5.17	0.71159	.	0.000000	0.47093	D	0.000250	T	0.62575	0.2439	M	0.81802	2.56	0.80722	D	1	B;B;B;B	0.14012	0.003;0.009;0.005;0.003	B;B;B;B	0.21546	0.021;0.035;0.016;0.016	T	0.62110	-0.6923	10	0.21014	T	0.42	-8.0256	17.2326	0.86989	0.0:0.0:1.0:0.0	.	283;333;347;283	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	T	283;333;283;347;333	ENSP00000383814:A283T;ENSP00000388048:A333T;ENSP00000327363:A283T;ENSP00000333938:A347T;ENSP00000411902:A333T	ENSP00000327363:A283T	A	+	1	0	NEXN	78167763	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.671000	0.74472	2.581000	0.87130	0.591000	0.81541	GCA	NEXN	-	NULL	ENSG00000162614		0.358	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	535	0.19	1	G	NM_144573		78395175	78395175	+1	no_errors	ENST00000334785	ensembl	human	known	69_37n	missense	404	11.01	50	SNP	1.000	A
NEXN	91624	genome.wustl.edu	37	1	78407678	78407678	+	Intron	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:78407678A>C	ENST00000334785.7	+	12	1657				FUBP1_ENST00000489495.1_5'Flank|NEXN_ENST00000457030.1_Intron|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000480732.2_Intron	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGGCAAGCAATTGTTAATC	0.368																																						dbGAP											0													25.0	23.0	23.0					1																	78407678		1831	4090	5921	-	-	-	SO:0001627	intron_variant	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1474-30A>C	1.37:g.78407678A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000334785.7	37	NULL	CCDS41351.1	1																																																																																			NEXN	-	-	ENSG00000162614		0.368	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	107	0.00	0	A	NM_144573		78407678	78407678	+1	no_errors	ENST00000470735	ensembl	human	putative	69_37n	rna	45	29.69	19	SNP	0.000	C
NF1	4763	genome.wustl.edu	37	17	29653202	29653202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:29653202G>T	ENST00000358273.4	+	37	5583	c.5200G>T	c.(5200-5202)Gaa>Taa	p.E1734*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.E1713*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1734	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTGGCTTTAGAAGAGGACCT	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											82.0	77.0	78.0					17																	29653202		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5200G>T	17.37:g.29653202G>T	ENSP00000351015:p.Glu1734*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E1734*	ENST00000358273.4	37	c.5200	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	48	14.319366	0.99790	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.61	5.61	0.85477	.	0.165864	0.52532	D	0.000069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.6285	0.91350	0.0:0.0:1.0:0.0	.	.	.	.	X	1734;1713;1379	.	ENSP00000348498:E1713X	E	+	1	0	NF1	26677328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.408000	0.97327	2.666000	0.90696	0.585000	0.79938	GAA	NF1	-	superfamily_ARM-type_fold,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000196712		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	119	0.00	0	G	NM_000267		29653202	29653202	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	nonsense	88	16.19	17	SNP	1.000	T
NFASC	23114	genome.wustl.edu	37	1	204953168	204953168	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:204953168G>A	ENST00000404076.1	+	20	2843	c.2421G>A	c.(2419-2421)gcG>gcA	p.A807A	NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Silent_p.A828A|NFASC_ENST00000367171.4_Silent_p.A813A|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000338586.6_Silent_p.A828A|NFASC_ENST00000539706.1_Silent_p.A824A|NFASC_ENST00000404907.1_Silent_p.A824A|NFASC_ENST00000360049.4_Silent_p.A824A|NFASC_ENST00000367172.4_Silent_p.A828A|NFASC_ENST00000513543.1_Silent_p.A824A|NFASC_ENST00000338515.6_Silent_p.A828A|NFASC_ENST00000367169.4_Intron			O94856	NFASC_HUMAN	neurofascin	828	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.			F -> L (in Ref. 3; BAB55195). {ECO:0000305}.	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)			CCAGGGCTGCGCCCACTGAAG	0.562																																						dbGAP											0													89.0	78.0	82.0					1																	204953168		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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	ENST00000404076.1:c.2421G>A	1.37:g.204953168G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A828	ENST00000404076.1	37	c.2484		1																																																																																			NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163531		0.562	NFASC-012	NOVEL	not_organism_supported|basic	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131243.1	174	0.00	0	G	NM_001005388		204953168	204953168	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	silent	171	15.35	31	SNP	0.736	A
NFATC3	4775	genome.wustl.edu	37	16	68200796	68200796	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:68200796G>A	ENST00000346183.3	+	5	1676	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.R551Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.R551Q|NFATC3_ENST00000349223.5_Missense_Mutation_p.R551Q	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	551	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATAGAACTTCGAAAAGGAGAA	0.343																																						dbGAP											0													105.0	99.0	101.0					16																	68200796		2198	4300	6498	-	-	-	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1652G>A	16.37:g.68200796G>A	ENSP00000300659:p.Arg551Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.R551Q	ENST00000346183.3	37	c.1652	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.910186	0.97093	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	D;D;D	0.85629	-2.01;-2.01;-2.01	5.5	5.5	0.81552	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.976;0.996;0.996	D	0.93880	0.7170	10	0.87932	D	0	-9.328	19.7767	0.96398	0.0:0.0:1.0:0.0	.	551;551;551;551	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	551;551;551;72	ENSP00000264008:R551Q;ENSP00000300659:R551Q;ENSP00000331324:R551Q	ENSP00000331324:R551Q	R	+	2	0	NFATC3	66758297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.720000	0.98763	2.748000	0.94277	0.655000	0.94253	CGA	NFATC3	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000072736		0.343	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	215	0.00	0	G	NM_004555		68200796	68200796	+1	no_errors	ENST00000346183	ensembl	human	known	69_37n	missense	96	14.16	16	SNP	1.000	A
NFIA	4774	genome.wustl.edu	37	1	61554154	61554154	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:61554154C>T	ENST00000403491.3	+	2	845	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	NFIA_ENST00000371185.2_Missense_Mutation_p.R121C|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.R121C|NFIA_ENST00000371187.3_Missense_Mutation_p.R121C|NFIA_ENST00000371191.1_Missense_Mutation_p.R144C|NFIA_ENST00000371184.2_Missense_Mutation_p.R121C|NFIA_ENST00000407417.3_Missense_Mutation_p.R113C|NFIA_ENST00000371189.4_Missense_Mutation_p.R166C	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	121					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TGACTGCCTCCGCCAGGCAGA	0.463																																						dbGAP											0													111.0	119.0	116.0					1																	61554154		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.361C>T	1.37:g.61554154C>T	ENSP00000384523:p.Arg121Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R166C	ENST00000403491.3	37	c.496	CCDS44156.1	1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493873	0.84962	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T;T	0.61274	0.15;0.19;0.12;0.2;0.23;0.38;0.45;0.18	5.87	5.87	0.94306	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.81914	0.995;0.993;0.993;0.988	T	0.77846	-0.2436	10	0.87932	D	0	-13.4331	20.2032	0.98269	0.0:1.0:0.0:0.0	.	166;144;121;121	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	C	144;113;166;121;121;121;121;121	ENSP00000360233:R144C;ENSP00000384680:R113C;ENSP00000360231:R166C;ENSP00000384523:R121C;ENSP00000419785:R121C;ENSP00000360227:R121C;ENSP00000360226:R121C;ENSP00000360229:R121C	ENSP00000360226:R121C	R	+	1	0	NFIA	61326742	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.785000	0.95823	0.650000	0.86243	CGC	NFIA	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	ENSG00000162599		0.463	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	106	0.00	0	C	NM_005595		61554154	61554154	+1	no_errors	ENST00000371189	ensembl	human	known	69_37n	missense	61	11.59	8	SNP	1.000	T
NFKB2	4791	genome.wustl.edu	37	10	104156690	104156690	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:104156690C>T	ENST00000369966.3	+	6	523	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_ENST00000189444.6_Silent_p.I91I|NFKB2_ENST00000428099.1_Silent_p.I91I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	91	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CAGCCAAGATCGAGGTGGACC	0.597			T	IGH@	B-NHL																																	dbGAP		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													71.0	75.0	74.0					10																	104156690		2081	4216	6297	-	-	-	SO:0001819	synonymous_variant	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.273C>T	10.37:g.104156690C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.I91	ENST00000369966.3	37	c.273	CCDS41564.1	10																																																																																			NFKB2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000077150		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	104	0.00	0	C			104156690	104156690	+1	no_errors	ENST00000189444	ensembl	human	known	69_37n	silent	72	10.00	8	SNP	0.444	T
NFKB2	4791	genome.wustl.edu	37	10	104158208	104158208	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:104158208C>A	ENST00000369966.3	+	11	1169	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	NFKB2_ENST00000189444.6_Missense_Mutation_p.L307M|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.L307M	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	307	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	AACAGTGTTTCTGCAACTGAA	0.552			T	IGH@	B-NHL																																	dbGAP		Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													133.0	132.0	132.0					10																	104158208		1986	4160	6146	-	-	-	SO:0001583	missense	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.919C>A	10.37:g.104158208C>A	ENSP00000358983:p.Leu307Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.L307M	ENST00000369966.3	37	c.919	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099446	0.56183	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.43294	0.95;0.95;0.95	5.15	4.03	0.46877	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.071306	0.64402	D	0.000020	T	0.48909	0.1526	L	0.28400	0.85	0.53688	D	0.999974	D;D;D	0.71674	0.992;0.998;0.992	D;D;D	0.87578	0.923;0.998;0.963	T	0.40979	-0.9534	10	0.41790	T	0.15	.	11.1363	0.48377	0.0:0.838:0.0:0.162	.	307;307;307	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	M	307	ENSP00000410256:L307M;ENSP00000358983:L307M;ENSP00000189444:L307M	ENSP00000189444:L307M	L	+	1	2	NFKB2	104148198	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.745000	0.38278	2.401000	0.81631	0.561000	0.74099	CTG	NFKB2	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000077150		0.552	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	184	0.00	0	C			104158208	104158208	+1	no_errors	ENST00000189444	ensembl	human	known	69_37n	missense	56	28.21	22	SNP	1.000	A
NFRKB	4798	genome.wustl.edu	37	11	129739730	129739730	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:129739730G>T	ENST00000446488.3	-	23	3293	c.3190C>A	c.(3190-3192)Ctt>Att	p.L1064I	NFRKB_ENST00000524794.1_Missense_Mutation_p.L1089I|NFRKB_ENST00000524746.1_Missense_Mutation_p.L1064I|NFRKB_ENST00000304521.5_Missense_Mutation_p.L1064I	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1064					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CTCACGCCAAGAGCTGGCATC	0.547																																						dbGAP											0													81.0	74.0	76.0					11																	129739730		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3190C>A	11.37:g.129739730G>T	ENSP00000400476:p.Leu1064Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12869|Q15312|Q9H048	Missense_Mutation	SNP	NULL	p.L1089I	ENST00000446488.3	37	c.3265	CCDS44770.1	11	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369490	0.61624	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.31	4.4	0.53042	.	0.000000	0.64402	D	0.000001	T	0.59169	0.2174	L	0.32530	0.975	0.37471	D	0.915615	D;D;D	0.71674	0.997;0.998;0.996	D;D;D	0.83275	0.991;0.996;0.994	T	0.61700	-0.7009	9	0.37606	T	0.19	-13.4072	10.918	0.47148	0.151:0.0:0.849:0.0	.	1064;1063;1089	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	I	1064;1064;1089;1064	.	ENSP00000303800:L1064I	L	-	1	0	NFRKB	129244940	0.999000	0.42202	0.702000	0.30337	0.996000	0.88848	2.938000	0.48987	1.233000	0.43693	0.655000	0.94253	CTT	NFRKB	-	NULL	ENSG00000170322		0.547	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2	184	0.00	0	G	NM_006165		129739730	129739730	-1	no_errors	ENST00000524794	ensembl	human	known	69_37n	missense	196	12.11	27	SNP	0.630	T
NHS	4810	genome.wustl.edu	37	X	17739707	17739707	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:17739707A>C	ENST00000380060.3	+	4	1337	c.999A>C	c.(997-999)caA>caC	p.Q333H	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Missense_Mutation_p.Q177H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	354					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGATGAAACAAGATGCCCAAG	0.453																																						dbGAP											0													251.0	200.0	218.0					X																	17739707		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.999A>C	X.37:g.17739707A>C	ENSP00000369400:p.Gln333His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.Q333H	ENST00000380060.3	37	c.999	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817745	0.71028	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.51817	0.7;0.69	5.97	2.03	0.26663	.	0.100425	0.64402	D	0.000001	T	0.64571	0.2610	M	0.79123	2.44	0.42331	D	0.992292	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	P;D;D;D	0.85130	0.904;0.935;0.935;0.997	T	0.62699	-0.6799	10	0.72032	D	0.01	-15.4733	8.396	0.32557	0.6559:0.0:0.3441:0.0	.	354;175;177;333	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	333;177;175	ENSP00000369400:Q333H;ENSP00000381170:Q177H	ENSP00000369397:Q175H	Q	+	3	2	NHS	17649628	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.991000	0.29654	-0.012000	0.14223	0.486000	0.48141	CAA	NHS	-	NULL	ENSG00000188158		0.453	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	1354	0.00	0	A	NM_198270		17739707	17739707	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	missense	882	13.02	132	SNP	0.999	C
NID2	22795	genome.wustl.edu	37	14	52474621	52474621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52474621C>A	ENST00000216286.5	-	19	3786	c.3787G>T	c.(3787-3789)Gaa>Taa	p.E1263*	NID2_ENST00000541773.1_Nonsense_Mutation_p.E1162*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1263					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCTGTTTTCTCCATCTAAA	0.388																																						dbGAP											0													127.0	116.0	120.0					14																	52474621		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3787G>T	14.37:g.52474621C>A	ENSP00000216286:p.Glu1263*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.E1263*	ENST00000216286.5	37	c.3787	CCDS9706.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.959364|8.959364	0.99018|0.99018	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773|ENST00000556572	.|.	.|.	.|.	5.74|5.74	2.51|2.51	0.30379|0.30379	.|.	0.585521|.	0.19896|.	N|.	0.103639|.	.|T	.|0.39989	.|0.1099	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46707	.|-0.9172	.|3	0.28530|.	T|.	0.3|.	.|.	5.8867|5.8867	0.18886|0.18886	0.1366:0.5958:0.0:0.2676|0.1366:0.5958:0.0:0.2676	.|.	.|.	.|.	.|.	X|I	1263;857;1162|531	.|.	ENSP00000216286:E1263X|.	E|R	-|-	1|2	0|0	NID2|NID2	51544371|51544371	0.656000|0.656000	0.27385|0.27385	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	0.741000|0.741000	0.26202|0.26202	0.752000|0.752000	0.32923|0.32923	0.655000|0.655000	0.94253|0.94253	GAA|AGA	NID2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000087303		0.388	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	310	0.00	0	C			52474621	52474621	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	nonsense	216	12.90	32	SNP	0.978	A
NID2	22795	genome.wustl.edu	37	14	52481848	52481848	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52481848G>A	ENST00000216286.5	-	15	3173	c.3174C>T	c.(3172-3174)agC>agT	p.S1058S	NID2_ENST00000541773.1_Silent_p.S957S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1058	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGCAGAAGTCGCTCTTTCCGT	0.662																																						dbGAP											0													52.0	45.0	47.0					14																	52481848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3174C>T	14.37:g.52481848G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Thyroglobulin_1,superfamily_Green_fluorescent_prot-like,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R327*	ENST00000216286.5	37	c.979	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	G	9.755	1.168639	0.21621	.	.	ENSG00000087303	ENST00000556572	.	.	.	5.67	-3.44	0.04796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1441	0.59450	0.4643:0.0:0.5357:0.0	.	.	.	.	X	327	.	.	R	-	1	2	NID2	51551598	1.000000	0.71417	0.992000	0.48379	0.800000	0.45204	0.926000	0.28804	-0.385000	0.07833	-1.105000	0.02106	CGA	NID2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000087303		0.662	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	98	0.00	0	G			52481848	52481848	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000556572	ensembl	human	novel	69_37n	nonsense	33	32.65	16	SNP	0.996	A
NID2	22795	genome.wustl.edu	37	14	52505656	52505656	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52505656A>G	ENST00000216286.5	-	9	2065	c.2066T>C	c.(2065-2067)tTt>tCt	p.F689S	NID2_ENST00000541773.1_Missense_Mutation_p.F636S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	689	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATTGCACCAAAAGTCAGAGA	0.468																																						dbGAP											0													112.0	106.0	108.0					14																	52505656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2066T>C	14.37:g.52505656A>G	ENSP00000216286:p.Phe689Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.F689S	ENST00000216286.5	37	c.2066	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	A	8.067	0.769357	0.15983	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.26518	1.73;1.73	6.17	-8.67	0.00863	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.800502	0.12386	N	0.473421	T	0.04770	0.0129	N	0.00771	-1.2	0.09310	N	1	B;B;B;B	0.14012	0.001;0.001;0.009;0.002	B;B;B;B	0.14023	0.01;0.002;0.007;0.006	T	0.33929	-0.9849	10	0.07813	T	0.8	.	8.152	0.31145	0.1365:0.0989:0.5696:0.195	.	283;636;691;689	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	S	689;283;636;691	ENSP00000216286:F689S;ENSP00000443730:F636S	ENSP00000216286:F689S	F	-	2	0	NID2	51575406	0.000000	0.05858	0.000000	0.03702	0.757000	0.42996	-0.642000	0.05427	-1.809000	0.01232	-0.256000	0.11100	TTT	NID2	-	pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000087303		0.468	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	366	0.00	0	A			52505656	52505656	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	259	27.78	100	SNP	0.000	G
NID2	22795	genome.wustl.edu	37	14	52527017	52527017	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52527017G>T	ENST00000216286.5	-	3	591	c.592C>A	c.(592-594)Ctt>Att	p.L198I	NID2_ENST00000541773.1_Missense_Mutation_p.L145I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	198	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAGGATAAAGAAAGAGGGCG	0.502																																						dbGAP											0													40.0	37.0	38.0					14																	52527017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.592C>A	14.37:g.52527017G>T	ENSP00000216286:p.Leu198Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.L198I	ENST00000216286.5	37	c.592	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.154274	0.94686	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	T;T	0.74421	-0.84;-0.84	5.58	5.58	0.84498	Nidogen, extracellular domain (3);	0.053466	0.85682	D	0.000000	D	0.83372	0.5240	L	0.46670	1.46	0.51233	D	0.999914	D;D;D	0.89917	1.0;0.999;0.994	D;D;D	0.83275	0.996;0.986;0.927	T	0.82680	-0.0337	10	0.51188	T	0.08	.	19.5484	0.95308	0.0:0.0:1.0:0.0	.	145;200;198	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	I	198;145;200	ENSP00000216286:L198I;ENSP00000443730:L145I	ENSP00000216286:L198I	L	-	1	0	NID2	51596767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.273000	0.95719	2.803000	0.96430	0.650000	0.86243	CTT	NID2	-	pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom	ENSG00000087303		0.502	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	142	0.00	0	G			52527017	52527017	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	80	26.61	29	SNP	1.000	T
NIM1K	167359	genome.wustl.edu	37	5	43280334	43280334	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:43280334C>T	ENST00000512796.1	+	4	2313	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	NIM1_ENST00000326035.2_Missense_Mutation_p.R272W			Q8IY84	NIM1_HUMAN		272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										CATGCCATTTCGGGCAGAAAC	0.557																																						dbGAP											0													86.0	72.0	77.0					5																	43280334		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000512796.1:c.814C>T	5.37:g.43280334C>T	ENSP00000420849:p.Arg272Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVM1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R272W	ENST00000512796.1	37	c.814	CCDS3943.1	5	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317436	0.81469	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.66638	-0.22;-0.22	5.73	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82608	-0.0373	10	0.87932	D	0	.	16.7187	0.85404	0.0:0.8705:0.1295:0.0	.	272	Q8IY84	NIM1_HUMAN	W	272	ENSP00000313572:R272W;ENSP00000420849:R272W	ENSP00000313572:R272W	R	+	1	2	AC114947.1	43316091	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	4.029000	0.57253	1.416000	0.47057	0.655000	0.94253	CGG	AC114947.1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000177453		0.557	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NIM1	Clone_based_vega_gene	protein_coding	OTTHUMT00000368017.1	233	0.00	0	C			43280334	43280334	+1	no_errors	ENST00000326035	ensembl	human	known	69_37n	missense	151	23.74	47	SNP	1.000	T
NIN	51199	genome.wustl.edu	37	14	51204881	51204881	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:51204881C>A	ENST00000382041.3	-	27	5942	c.5752G>T	c.(5752-5754)Gaa>Taa	p.E1918*	NIN_ENST00000324330.9_Nonsense_Mutation_p.E1918*|NIN_ENST00000245441.5_Nonsense_Mutation_p.E1918*|NIN_ENST00000382043.4_Nonsense_Mutation_p.E1205*|NIN_ENST00000530997.2_Nonsense_Mutation_p.E1918*|NIN_ENST00000453196.1_Nonsense_Mutation_p.E1918*|NIN_ENST00000389868.3_Nonsense_Mutation_p.E1205*	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1918					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GGAGATTGTTCTTTCTGAAAC	0.398			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													284.0	265.0	271.0					14																	51204881		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5752G>T	14.37:g.51204881C>A	ENSP00000371472:p.Glu1918*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E1918*	ENST00000382041.3	37	c.5752	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.533503|9.533503	0.99198|0.99198	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	.|.	.|.	.|.	5.72|5.72	3.86|3.86	0.44501|0.44501	.|.	0.228763|.	0.42682|.	D|.	0.000676|.	.|T	.|0.55449	.|0.1921	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65384	.|-0.6181	.|3	0.20046|.	T|.	0.44|.	-6.3562|-6.3562	11.8471|11.8471	0.52391|0.52391	0.0:0.8052:0.1251:0.0696|0.0:0.8052:0.1251:0.0696	.|.	.|.	.|.	.|.	X|I	1918;1901;1205;1205;1924;1918;1918;1918|1408	.|.	ENSP00000245441:E1918X|.	E|R	-|-	1|2	0|0	NIN|NIN	50274631|50274631	1.000000|1.000000	0.71417|0.71417	0.121000|0.121000	0.21740|0.21740	0.656000|0.656000	0.38851|0.38851	2.876000|2.876000	0.48498|0.48498	1.557000|1.557000	0.49525|0.49525	0.563000|0.563000	0.77884|0.77884	GAA|AGA	NIN	-	NULL	ENSG00000100503		0.398	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	445	0.00	0	C	NM_182946		51204881	51204881	-1	no_errors	ENST00000245441	ensembl	human	known	69_37n	nonsense	263	14.89	46	SNP	0.169	A
NIPAL1	152519	genome.wustl.edu	37	4	48037676	48037676	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:48037676T>G	ENST00000295461.5	+	6	786	c.720T>G	c.(718-720)atT>atG	p.I240M		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	240						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TGGTTTATATTTCAATCTGTT	0.403																																						dbGAP											0													106.0	106.0	106.0					4																	48037676		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.720T>G	4.37:g.48037676T>G	ENSP00000295461:p.Ile240Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.I240M	ENST00000295461.5	37	c.720	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929395	0.73327	.	.	ENSG00000163293	ENST00000295461	D	0.92595	-3.07	5.64	-6.53	0.01866	.	0.226260	0.38217	N	0.001765	D	0.94145	0.8122	M	0.89968	3.075	0.46376	D	0.99901	D	0.76494	0.999	D	0.79784	0.993	D	0.89781	0.3961	9	.	.	.	.	4.4838	0.11780	0.2115:0.4621:0.1083:0.2181	.	240	Q6NVV3	NIPA3_HUMAN	M	240	ENSP00000295461:I240M	.	I	+	3	3	NIPAL1	47732433	0.949000	0.32298	0.882000	0.34594	0.966000	0.64601	0.076000	0.14712	-1.105000	0.03011	0.533000	0.62120	ATT	NIPAL1	-	pfam_Mg_trans_NIPA	ENSG00000163293		0.403	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	106	0.00	0	T	NM_207330		48037676	48037676	+1	no_errors	ENST00000295461	ensembl	human	known	69_37n	missense	101	12.93	15	SNP	0.881	G
NIPBL	25836	genome.wustl.edu	37	5	36985532	36985532	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:36985532A>C	ENST00000282516.8	+	10	2749	c.2250A>C	c.(2248-2250)aaA>aaC	p.K750N	NIPBL_ENST00000448238.2_Missense_Mutation_p.K750N|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	750					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAGCAAAAAAATGAAGGGC	0.453																																						dbGAP											0													73.0	78.0	76.0					5																	36985532		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2250A>C	5.37:g.36985532A>C	ENSP00000282516:p.Lys750Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K750N	ENST00000282516.8	37	c.2250	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713561	0.30413	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94330	-3.4;-3.4	5.98	4.85	0.62838	.	0.143273	0.51477	D	0.000096	D	0.89894	0.6847	L	0.32530	0.975	0.36294	D	0.85657	P;D	0.53745	0.937;0.962	B;P	0.49999	0.296;0.628	D	0.90061	0.4156	10	0.45353	T	0.12	-17.1723	5.5922	0.17307	0.8181:0.0:0.1819:0.0	.	750;750	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	750	ENSP00000282516:K750N;ENSP00000406266:K750N	ENSP00000282516:K750N	K	+	3	2	NIPBL	37021289	0.946000	0.32159	1.000000	0.80357	0.978000	0.69477	1.694000	0.37752	2.288000	0.76882	0.528000	0.53228	AAA	NIPBL	-	NULL	ENSG00000164190		0.453	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	336	0.00	0	A	NM_015384		36985532	36985532	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	216	27.03	80	SNP	0.993	C
NIPBL	25836	genome.wustl.edu	37	5	36986159	36986159	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:36986159G>A	ENST00000282516.8	+	10	3376	c.2877G>A	c.(2875-2877)ccG>ccA	p.P959P	NIPBL_ENST00000448238.2_Silent_p.P959P|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	959					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGTCATTCCGAAAATCAAGA	0.383																																						dbGAP											0													118.0	125.0	123.0					5																	36986159		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2877G>A	5.37:g.36986159G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	superfamily_ARM-type_fold	p.P959	ENST00000282516.8	37	c.2877	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.383	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	470	0.00	0	G	NM_015384		36986159	36986159	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	silent	380	12.84	56	SNP	0.997	A
NIPBL	25836	genome.wustl.edu	37	5	37020706	37020706	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:37020706G>A	ENST00000282516.8	+	26	5655	c.5156G>A	c.(5155-5157)cGa>cAa	p.R1719Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1719Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1719					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTATGCATCGAGCTGAAAAC	0.348																																						dbGAP											0													91.0	91.0	91.0					5																	37020706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5156G>A	5.37:g.37020706G>A	ENSP00000282516:p.Arg1719Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1719Q	ENST00000282516.8	37	c.5156	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279421	0.59758	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93811	-3.28;-3.29	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	L	0.54323	1.7	0.53005	D	0.999968	B;B	0.23442	0.017;0.085	B;B	0.12156	0.005;0.007	D	0.87223	0.2255	10	0.10902	T	0.67	.	20.3213	0.98679	0.0:0.0:1.0:0.0	.	1719;1719	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Q	1719	ENSP00000282516:R1719Q;ENSP00000406266:R1719Q	ENSP00000282516:R1719Q	R	+	2	0	NIPBL	37056463	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.337000	0.72958	2.810000	0.96702	0.650000	0.86243	CGA	NIPBL	-	superfamily_ARM-type_fold	ENSG00000164190		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	80	0.00	0	G	NM_015384		37020706	37020706	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	43	30.65	19	SNP	1.000	A
NIPSNAP3A	25934	genome.wustl.edu	37	9	107516813	107516813	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:107516813C>A	ENST00000374767.4	+	4	535				NIPSNAP3A_ENST00000471001.1_3'UTR	NM_015469.1	NP_056284.1	Q9UFN0	NPS3A_HUMAN	nipsnap homolog 3A (C. elegans)							cytoplasm (GO:0005737)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGAAAAATTCTTTTTCTCCC	0.418																																						dbGAP											0													46.0	45.0	45.0					9																	107516813		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC005935	CCDS6760.1	9q31.3	2003-11-27			ENSG00000136783	ENSG00000136783			23619	protein-coding gene	gene with protein product		608871				12477932	Standard	NM_015469		Approved	DKFZp564D177, FLJ13953, HSPC299, MGC14553		Q9UFN0	OTTHUMG00000020413	ENST00000374767.4:c.431-19C>A	9.37:g.107516813C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM55|Q5VX32|Q9BRV7|Q9H843|Q9P083	RNA	SNP	-	NULL	ENST00000374767.4	37	NULL	CCDS6760.1	9																																																																																			NIPSNAP3A	-	-	ENSG00000136783		0.418	NIPSNAP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP3A	HGNC	protein_coding	OTTHUMT00000053484.1	78	0.00	0	C	NM_015469		107516813	107516813	+1	no_errors	ENST00000471001	ensembl	human	known	69_37n	rna	39	13.33	6	SNP	0.001	A
NKTR	4820	genome.wustl.edu	37	3	42680096	42680096	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:42680096C>T	ENST00000232978.8	+	13	3088	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	967					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S967L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGTTCCAATTCGGAAAACAAT	0.408																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											81.0	83.0	83.0					3																	42680096		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2900C>T	3.37:g.42680096C>T	ENSP00000232978:p.Ser967Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.S967L	ENST00000232978.8	37	c.2900	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	c	1.450	-0.565169	0.03939	.	.	ENSG00000114857	ENST00000232978	T	0.12672	2.66	5.51	1.78	0.24846	.	0.675753	0.15487	N	0.259760	T	0.11067	0.0270	L	0.43646	1.37	0.09310	N	0.999992	B;B	0.13145	0.007;0.004	B;B	0.08055	0.003;0.001	T	0.24119	-1.0169	10	0.38643	T	0.18	-0.6522	7.2246	0.26007	0.0:0.6735:0.1234:0.2031	.	667;967	Q6M1B8;P30414	.;NKTR_HUMAN	L	967	ENSP00000232978:S967L	ENSP00000232978:S967L	S	+	2	0	NKTR	42655100	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	1.445000	0.35079	0.318000	0.23185	-0.719000	0.03609	TCG	NKTR	-	NULL	ENSG00000114857		0.408	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	257	0.00	0	C	NM_005385		42680096	42680096	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	missense	212	12.76	31	SNP	0.001	T
NLGN4X	57502	genome.wustl.edu	37	X	5950735	5950735	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:5950735C>T	ENST00000381095.3	-	3	1100				NLGN4X_ENST00000381092.1_Intron|NLGN4X_ENST00000275857.6_Intron|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E177K|NLGN4X_ENST00000538097.1_Intron	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked						adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAAATACCTTCGTCTTCACCA	0.343																																						dbGAP											0													33.0	33.0	33.0					X																	5950735		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.473-3262G>A	X.37:g.5950735C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E177K	ENST00000381095.3	37	c.529	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	C	4.858	0.159515	0.09236	.	.	ENSG00000146938	ENST00000381093	T	0.65732	-0.17	3.8	2.94	0.34122	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	B	0.32101	0.356	B	0.18263	0.021	T	0.42916	-0.9423	8	0.51188	T	0.08	.	10.3793	0.44101	0.0:0.899:0.0:0.101	.	177	Q8N0W4-2	.	K	177	ENSP00000370483:E177K	ENSP00000370483:E177K	E	-	1	0	NLGN4X	5960735	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	1.296000	0.33389	0.588000	0.29660	-0.257000	0.10917	GAA	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.343	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	67	0.00	0	C	NM_020742		5950735	5950735	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	88	35.29	48	SNP	1.000	T
NLRC3	197358	genome.wustl.edu	37	16	3602203	3602203	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:3602203C>A	ENST00000301749.7	-	0	2749				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACATGAGCTCTTTCAGACTC	0.537																																						dbGAP											0													102.0	99.0	100.0					16																	3602203		1953	4142	6095	-	-	-			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3602203C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.E828*	ENST00000301749.7	37	c.2482		16	.	.	.	.	.	.	.	.	.	.	C	39	7.626444	0.98396	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	.	.	.	4.77	3.81	0.43845	.	0.238850	0.38605	N	0.001640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.9891	0.30229	0.0:0.8906:0.0:0.1094	.	.	.	.	X	782;781;828	.	ENSP00000301749:E782X	E	-	1	0	NLRC3	3542204	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	2.470000	0.45119	2.213000	0.71641	0.449000	0.29647	GAG	NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.537	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		69	0.00	0	C	NM_178844		3602203	3602203	-1	no_errors	ENST00000448023	ensembl	human	known	69_37n	nonsense	56	33.33	28	SNP	1.000	A
NLRC4	58484	genome.wustl.edu	37	2	32475709	32475709	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:32475709G>A	ENST00000404025.2	-	5	1712	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	NLRC4_ENST00000402280.1_Silent_p.F408F|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.F408F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	408	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCTGCAGTTCGAAATCAAACT	0.473																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1224C>T	2.37:g.32475709G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.F408	ENST00000404025.2	37	c.1224	CCDS33174.1	2																																																																																			NLRC4	-	NULL	ENSG00000091106		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	56	0.00	0	G	NM_021209		32475709	32475709	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	silent	28	44.00	22	SNP	0.038	A
NLRP12	91662	genome.wustl.edu	37	19	54312884	54312884	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:54312884G>A	ENST00000324134.6	-	3	2197	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	NLRP12_ENST00000535162.1_Missense_Mutation_p.R677C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R677C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R677C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R677C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R677C|NLRP12_ENST00000391775.3_Missense_Mutation_p.R677C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R677C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	677					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACCTCGCGCGGTCTTCCCCG	0.592																																						dbGAP											0													31.0	30.0	30.0					19																	54312884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2029C>T	19.37:g.54312884G>A	ENSP00000319377:p.Arg677Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R677C	ENST00000324134.6	37	c.2029	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850802	0.32699	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89123	-2.29;-2.29;-2.29;-2.29;-2.29;-2.47;-2.47	3.86	-2.65	0.06095	.	1.349610	0.05475	N	0.553805	D	0.82852	0.5127	L	0.39898	1.24	0.09310	N	0.999999	D;D;D;D	0.65815	0.983;0.995;0.983;0.982	B;B;B;B	0.43575	0.424;0.332;0.424;0.332	T	0.74562	-0.3624	10	0.56958	D	0.05	.	5.4535	0.16578	0.0:0.2726:0.4865:0.2409	.	677;677;677;677	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	677	ENSP00000319377:R677C;ENSP00000438030:R677C;ENSP00000340473:R677C;ENSP00000346231:R677C;ENSP00000375655:R677C;ENSP00000375653:R677C;ENSP00000375652:R677C	ENSP00000319377:R677C	R	-	1	0	NLRP12	59004696	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-1.541000	0.02198	-0.051000	0.13334	0.485000	0.47835	CGC	NLRP12	-	NULL	ENSG00000142405		0.592	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	36	0.00	0	G	NM_144687		54312884	54312884	-1	no_errors	ENST00000391773	ensembl	human	known	69_37n	missense	15	27.27	6	SNP	0.000	A
NLRP11	204801	genome.wustl.edu	37	19	56329530	56329530	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56329530G>A	ENST00000589093.1	-	2	104	c.11C>T	c.(10-12)tCg>tTg	p.S4L	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.S4L|NLRP11_ENST00000360133.3_Missense_Mutation_p.S4L|NLRP11_ENST00000443188.1_Missense_Mutation_p.S4L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	4	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTAGAATCCGATTCTGCCAT	0.408																																						dbGAP											0													54.0	50.0	51.0					19																	56329530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.11C>T	19.37:g.56329530G>A	ENSP00000466285:p.Ser4Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S4L	ENST00000589093.1	37	c.11	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006561	0.35415	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.75589	-0.95;-0.88	2.56	-1.15	0.09709	Pyrin (1);DEATH-like (1);	.	.	.	.	T	0.78400	0.4277	L	0.59436	1.845	0.09310	N	1	D	0.89917	1.0	D	0.72075	0.976	T	0.64997	-0.6275	9	0.87932	D	0	.	3.2738	0.06891	0.2807:0.2219:0.4974:0.0	.	4	P59045	NAL11_HUMAN	L	4	ENSP00000409898:S4L;ENSP00000353251:S4L	ENSP00000353251:S4L	S	-	2	0	NLRP11	61021342	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.114000	0.10757	-0.122000	0.11766	-0.903000	0.02851	TCG	NLRP11	-	superfamily_DEATH-like,pfscan_DAPIN	ENSG00000179873		0.408	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	255	0.00	0	G	NM_145007		56329530	56329530	-1	no_errors	ENST00000443188	ensembl	human	known	69_37n	missense	186	23.36	57	SNP	0.000	A
NLRP13	126204	genome.wustl.edu	37	19	56424034	56424034	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56424034A>G	ENST00000342929.3	-	5	1148	c.1149T>C	c.(1147-1149)atT>atC	p.I383I	NLRP13_ENST00000588751.1_Silent_p.I383I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	383	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGAACCCTGTAATTTGTACAA	0.423																																						dbGAP											0													111.0	108.0	109.0					19																	56424034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1149T>C	19.37:g.56424034A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I383	ENST00000342929.3	37	c.1149	CCDS33119.1	19																																																																																			NLRP13	-	NULL	ENSG00000173572		0.423	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	201	0.00	0	A	NM_176810		56424034	56424034	-1	no_errors	ENST00000342929	ensembl	human	known	69_37n	silent	140	14.63	24	SNP	0.000	G
NLRP13	126204	genome.wustl.edu	37	19	56424580	56424580	+	Silent	SNP	G	G	A	rs561959443		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56424580G>A	ENST00000342929.3	-	5	602	c.603C>T	c.(601-603)caC>caT	p.H201H	NLRP13_ENST00000588751.1_Silent_p.H201H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	201							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGATATATACGTGGTCTTTAG	0.493																																						dbGAP											0													170.0	181.0	177.0					19																	56424580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.603C>T	19.37:g.56424580G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.H201	ENST00000342929.3	37	c.603	CCDS33119.1	19																																																																																			NLRP13	-	NULL	ENSG00000173572		0.493	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	173	0.00	0	G	NM_176810		56424580	56424580	-1	no_errors	ENST00000342929	ensembl	human	known	69_37n	silent	137	12.66	20	SNP	0.002	A
NLRP14	338323	genome.wustl.edu	37	11	7063937	7063937	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7063937G>T	ENST00000299481.4	+	4	1026	c.680G>T	c.(679-681)aGa>aTa	p.R227I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	227	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAAGAGAGAAGCTTTGCT	0.423																																						dbGAP											0													97.0	104.0	102.0					11																	7063937		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.680G>T	11.37:g.7063937G>T	ENSP00000299481:p.Arg227Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R227I	ENST00000299481.4	37	c.680	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087025	0.20390	.	.	ENSG00000158077	ENST00000299481	T	0.77098	-1.07	4.56	-7.65	0.01281	NACHT nucleoside triphosphatase (1);	1.259510	0.05482	N	0.555064	T	0.64249	0.2581	L	0.52266	1.64	0.09310	N	1	B	0.26744	0.158	B	0.29176	0.099	T	0.51663	-0.8677	10	0.35671	T	0.21	.	1.501	0.02477	0.4588:0.1981:0.153:0.1901	.	227	Q86W24	NAL14_HUMAN	I	227	ENSP00000299481:R227I	ENSP00000299481:R227I	R	+	2	0	NLRP14	7020513	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.168000	0.01270	-1.367000	0.02152	-0.157000	0.13467	AGA	NLRP14	-	pfscan_NACHT_NTPase	ENSG00000158077		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	202	0.00	0	G	NM_176822		7063937	7063937	+1	no_errors	ENST00000299481	ensembl	human	known	69_37n	missense	127	21.60	35	SNP	0.000	T
NLRP14	338323	genome.wustl.edu	37	11	7078916	7078916	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7078916C>A	ENST00000299481.4	+	7	2646	c.2300C>A	c.(2299-2301)tCt>tAt	p.S767Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	767					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGCTGGAATCTTGCAACCTA	0.388																																						dbGAP											0													175.0	157.0	163.0					11																	7078916		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2300C>A	11.37:g.7078916C>A	ENSP00000299481:p.Ser767Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S767Y	ENST00000299481.4	37	c.2300	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	6.889	0.533564	0.13188	.	.	ENSG00000158077	ENST00000299481	T	0.43688	0.94	4.18	-0.0556	0.13809	.	0.330839	0.22291	N	0.061990	T	0.44180	0.1281	L	0.46614	1.455	0.31672	N	0.644193	D	0.71674	0.998	D	0.65010	0.931	T	0.49725	-0.8909	10	0.54805	T	0.06	.	1.2296	0.01941	0.1774:0.4535:0.1728:0.1963	.	767	Q86W24	NAL14_HUMAN	Y	767	ENSP00000299481:S767Y	ENSP00000299481:S767Y	S	+	2	0	NLRP14	7035492	0.000000	0.05858	0.596000	0.28811	0.241000	0.25554	-0.611000	0.05622	0.013000	0.14918	0.585000	0.79938	TCT	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000158077		0.388	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	423	0.00	0	C	NM_176822		7078916	7078916	+1	no_errors	ENST00000299481	ensembl	human	known	69_37n	missense	298	12.87	44	SNP	0.875	A
NLRP14	338323	genome.wustl.edu	37	11	7081264	7081264	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7081264C>T	ENST00000299481.4	+	9	3119	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	925					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGATGTCTTTCGGCATCCAAG	0.428																																						dbGAP											0													220.0	208.0	212.0					11																	7081264		2201	4295	6496	-	-	-	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2773C>T	11.37:g.7081264C>T	ENSP00000299481:p.Arg925Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R925W	ENST00000299481.4	37	c.2773	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764218	0.31228	.	.	ENSG00000158077	ENST00000299481	T	0.48522	0.81	4.5	0.00652	0.14067	.	0.764957	0.10829	N	0.629577	T	0.40979	0.1139	M	0.74546	2.27	0.09310	N	1	B	0.24721	0.11	B	0.12837	0.008	T	0.46317	-0.9200	10	0.72032	D	0.01	.	2.1725	0.03853	0.3529:0.3743:0.1721:0.1007	.	925	Q86W24	NAL14_HUMAN	W	925	ENSP00000299481:R925W	ENSP00000299481:R925W	R	+	1	2	NLRP14	7037840	0.000000	0.05858	0.002000	0.10522	0.987000	0.75469	-0.266000	0.08631	0.204000	0.20548	0.655000	0.94253	CGG	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000158077		0.428	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	363	0.00	0	C	NM_176822		7081264	7081264	+1	no_errors	ENST00000299481	ensembl	human	known	69_37n	missense	289	14.24	48	SNP	0.003	T
NLRP2	55655	genome.wustl.edu	37	19	55497648	55497648	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55497648C>A	ENST00000543010.1	+	8	2474	c.2331C>A	c.(2329-2331)gtC>gtA	p.V777V	NLRP2_ENST00000537859.1_Silent_p.V755V|NLRP2_ENST00000427260.2_Silent_p.V754V|NLRP2_ENST00000448584.2_Silent_p.V777V|NLRP2_ENST00000538819.1_Silent_p.V753V|NLRP2_ENST00000263437.6_Silent_p.V774V|NLRP2_ENST00000339757.7_Silent_p.V755V|NLRP2_ENST00000391721.4_Silent_p.V753V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	777					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGTGTGAGGTCTTGAGACATC	0.433																																						dbGAP											0													156.0	127.0	137.0					19																	55497648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2331C>A	19.37:g.55497648C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	NULL	p.L182I	ENST00000543010.1	37	c.544	CCDS12913.1	19																																																																																			NLRP2	-	NULL	ENSG00000022556		0.433	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	104	0.00	0	C	NM_017852		55497648	55497648	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540005	ensembl	human	putative	69_37n	missense	118	11.28	15	SNP	0.014	A
NLRP7	199713	genome.wustl.edu	37	19	55451494	55451494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55451494C>T	ENST00000590030.1	-	3	733	c.693G>A	c.(691-693)tgG>tgA	p.W231*	NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W231*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W231*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W231*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.W259*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W231*|NLRP7_ENST00000588756.1_Nonsense_Mutation_p.W231*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	231	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAATTCAGGCCAGTCTTTGG	0.572																																						dbGAP											0													117.0	116.0	116.0					19																	55451494		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.693G>A	19.37:g.55451494C>T	ENSP00000465520:p.Trp231*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.W259*	ENST00000590030.1	37	c.777	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767438	0.49574	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	.	.	.	1.88	-3.76	0.04359	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2654	0.20924	0.3217:0.1983:0.48:0.0	.	.	.	.	X	231;231;231;259	.	ENSP00000329568:W231X	W	-	3	0	NLRP7	60143306	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.734000	0.04893	-1.059000	0.03193	0.462000	0.41574	TGG	NLRP7	-	pfscan_NACHT_NTPase	ENSG00000167634		0.572	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	164	0.00	0	C	NM_139176		55451494	55451494	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	nonsense	90	28.57	36	SNP	0.000	T
NLRP2	55655	genome.wustl.edu	37	19	55497690	55497690	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:55497690C>A	ENST00000543010.1	+	8	2509				NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000427260.2_Intron|NLRP2_ENST00000448584.2_Intron|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000263437.6_Intron|NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000391721.4_Intron	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2						positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCGGGTATATCTCTTAATCAT	0.378																																						dbGAP											0													99.0	86.0	90.0					19																	55497690		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2366+7C>A	19.37:g.55497690C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	NULL	p.L196I	ENST00000543010.1	37	c.586	CCDS12913.1	19																																																																																			NLRP2	-	NULL	ENSG00000022556		0.378	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	72	0.00	0	C	NM_017852		55497690	55497690	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000540005	ensembl	human	putative	69_37n	missense	84	20.75	22	SNP	0.065	A
NLRP9	338321	genome.wustl.edu	37	19	56235502	56235502	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56235502G>T	ENST00000332836.2	-	4	2030	c.2003C>A	c.(2002-2004)tCt>tAt	p.S668Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	668						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAAGTACACAGAAGTAAATCT	0.418																																						dbGAP											0													43.0	41.0	42.0					19																	56235502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2003C>A	19.37:g.56235502G>T	ENSP00000331857:p.Ser668Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S668Y	ENST00000332836.2	37	c.2003	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	G	0	-2.624062	0.00117	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.14391	2.51	2.66	-3.37	0.04898	.	.	.	.	.	T	0.05731	0.0150	L	0.28556	0.865	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.43956	-0.9359	9	0.02654	T	1	.	1.3025	0.02082	0.29:0.4029:0.131:0.1762	.	668	Q7RTR0	NALP9_HUMAN	Y	668	ENSP00000331857:S668Y	ENSP00000331857:S668Y	S	-	2	0	NLRP9	60927314	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.285000	0.08410	-0.750000	0.04740	-1.408000	0.01128	TCT	NLRP9	-	NULL	ENSG00000185792		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	79	0.00	0	G	NM_176820		56235502	56235502	-1	no_errors	ENST00000332836	ensembl	human	known	69_37n	missense	63	32.26	30	SNP	0.000	T
NMD3	51068	genome.wustl.edu	37	3	160967284	160967284	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:160967284C>T	ENST00000460469.1	+	13	1701	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	NMD3_ENST00000472947.1_Missense_Mutation_p.R416C|NMD3_ENST00000351193.2_Missense_Mutation_p.R416C			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	416					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACGTCAGCGTCGTAGAAACTG	0.378																																						dbGAP											0													78.0	76.0	77.0					3																	160967284		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1246C>T	3.37:g.160967284C>T	ENSP00000419004:p.Arg416Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.R416C	ENST00000460469.1	37	c.1246	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381747	0.82792	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.23552	1.9;1.9;1.9	4.77	4.77	0.60923	.	0.113026	0.64402	D	0.000011	T	0.47911	0.1471	M	0.79926	2.475	0.80722	D	1	B;D;D	0.69078	0.452;0.997;0.997	B;P;P	0.55260	0.107;0.772;0.642	T	0.55341	-0.8156	10	0.66056	D	0.02	-20.7725	17.6712	0.88218	0.0:1.0:0.0:0.0	.	416;416;416	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	C	416;416;416;296	ENSP00000307525:R416C;ENSP00000417559:R416C;ENSP00000419004:R416C	ENSP00000307525:R416C	R	+	1	0	NMD3	162449978	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.245000	0.65405	2.587000	0.87381	0.655000	0.94253	CGT	NMD3	-	NULL	ENSG00000169251		0.378	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	450	0.00	0	C	NM_015938		160967284	160967284	+1	no_errors	ENST00000351193	ensembl	human	known	69_37n	missense	212	17.19	44	SNP	1.000	T
NMD3	51068	genome.wustl.edu	37	3	160967297	160967297	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:160967297A>C	ENST00000460469.1	+	13	1714	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T	NMD3_ENST00000472947.1_Missense_Mutation_p.K420T|NMD3_ENST00000351193.2_Missense_Mutation_p.K420T			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	420					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGAAACTGGAAATTGAAAGAG	0.353																																						dbGAP											0													76.0	75.0	75.0					3																	160967297		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1259A>C	3.37:g.160967297A>C	ENSP00000419004:p.Lys420Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.K420T	ENST00000460469.1	37	c.1259	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	A	17.18	3.323303	0.60634	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.23754	1.89;1.89;1.89	4.77	4.77	0.60923	.	0.044677	0.85682	D	0.000000	T	0.44912	0.1316	M	0.87456	2.885	0.80722	D	1	P;P;D	0.53619	0.776;0.782;0.961	B;B;P	0.49637	0.391;0.411;0.617	T	0.56697	-0.7936	10	0.66056	D	0.02	-18.5042	14.1828	0.65586	1.0:0.0:0.0:0.0	.	420;420;420	B3KT11;C9JA08;Q96D46	.;.;NMD3_HUMAN	T	420;420;420;300	ENSP00000307525:K420T;ENSP00000417559:K420T;ENSP00000419004:K420T	ENSP00000307525:K420T	K	+	2	0	NMD3	162449991	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.454000	0.90352	2.091000	0.63221	0.533000	0.62120	AAA	NMD3	-	NULL	ENSG00000169251		0.353	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	476	0.00	0	A	NM_015938		160967297	160967297	+1	no_errors	ENST00000351193	ensembl	human	known	69_37n	missense	237	10.23	27	SNP	1.000	C
NMI	9111	genome.wustl.edu	37	2	152128236	152128236	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:152128236C>A	ENST00000243346.5	-	7	1115	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	215					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TTTTCAAAATCTTGTCAGCCA	0.289																																						dbGAP											0													79.0	86.0	84.0					2																	152128236		2203	4300	6503	-	-	-	SO:0001583	missense	0			U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.645G>T	2.37:g.152128236C>A	ENSP00000243346:p.Lys215Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.K215N	ENST00000243346.5	37	c.645	CCDS2192.1	2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401129	0.25291	.	.	ENSG00000123609	ENST00000243346	T	0.40476	1.03	5.92	1.71	0.24356	Nmi/IFP 35 (1);Nucleotide-binding, alpha-beta plait (1);	0.630074	0.18354	N	0.143799	T	0.21227	0.0511	N	0.16862	0.45	0.28949	N	0.890504	B	0.18741	0.03	B	0.17433	0.018	T	0.10019	-1.0648	10	0.25751	T	0.34	-1.6472	4.3441	0.11124	0.1429:0.3972:0.375:0.0848	.	215	Q13287	NMI_HUMAN	N	215	ENSP00000243346:K215N	ENSP00000243346:K215N	K	-	3	2	NMI	151836482	0.101000	0.21875	0.943000	0.38184	0.880000	0.50808	0.208000	0.17415	0.830000	0.34757	0.585000	0.79938	AAG	NMI	-	pfam_Nmi/IFP35	ENSG00000123609		0.289	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMI	HGNC	protein_coding	OTTHUMT00000254817.2	310	0.00	0	C	NM_004688		152128236	152128236	-1	no_errors	ENST00000243346	ensembl	human	known	69_37n	missense	217	17.98	48	SNP	0.852	A
NMNAT2	23057	genome.wustl.edu	37	1	183253160	183253160	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:183253160G>T	ENST00000287713.6	-	7	878	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.L177M	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	182					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						ACCGTGCCCAGATTGGCATTC	0.537																																						dbGAP											0													142.0	118.0	126.0					1																	183253160		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.544C>A	1.37:g.183253160G>T	ENSP00000287713:p.Leu182Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cytidylyltransf	p.L182M	ENST00000287713.6	37	c.544	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649358	0.67358	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97752	-4.52;-4.4	5.71	5.71	0.89125	Cytidylyltransferase (1);	1.256020	0.05479	N	0.554543	D	0.97964	0.9330	L	0.43152	1.355	0.50632	D	0.999883	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.97110	1.0;0.992;0.997	D	0.92546	0.6046	10	0.31617	T	0.26	-13.8821	10.0158	0.42014	0.15:0.0:0.85:0.0	.	182;182;177	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	M	182;177	ENSP00000287713:L182M;ENSP00000294868:L177M	ENSP00000287713:L182M	L	-	1	2	NMNAT2	181519783	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	3.431000	0.52814	2.687000	0.91594	0.655000	0.94253	CTG	NMNAT2	-	pfam_Cytidylyltransf	ENSG00000157064		0.537	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1	138	0.00	0	G			183253160	183253160	-1	no_errors	ENST00000287713	ensembl	human	known	69_37n	missense	80	19.19	19	SNP	1.000	T
NMT1	4836	genome.wustl.edu	37	17	43159057	43159057	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:43159057G>T	ENST00000592782.1	+	3	308	c.177G>T	c.(175-177)aaG>aaT	p.K59N	NMT1_ENST00000258960.2_Missense_Mutation_p.K59N|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	59	Poly-Lys.				apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				agaagaaaaagaaacaaaaaa	0.378																																						dbGAP											0													54.0	57.0	56.0					17																	43159057		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.177G>T	17.37:g.43159057G>T	ENSP00000468424:p.Lys59Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.K59N	ENST00000592782.1	37	c.177	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179192	0.57800	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.50277	0.75;0.91	5.38	5.38	0.77491	.	0.247105	0.44902	D	0.000403	T	0.48822	0.1521	M	0.67397	2.05	0.45690	D	0.998608	P	0.40909	0.732	B	0.38056	0.264	T	0.52253	-0.8600	10	0.45353	T	0.12	-16.7352	17.0895	0.86618	0.0:0.0:1.0:0.0	.	59	P30419	NMT1_HUMAN	N	59	ENSP00000258960:K59N;ENSP00000439263:K59N	ENSP00000258960:K59N	K	+	3	2	NMT1	40514583	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.183000	0.50918	2.802000	0.96397	0.655000	0.94253	AAG	NMT1	-	pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.378	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	183	0.00	0	G	NM_021079		43159057	43159057	+1	no_errors	ENST00000258960	ensembl	human	known	69_37n	missense	150	15.25	27	SNP	1.000	T
RPP38	10557	genome.wustl.edu	37	10	15145270	15145270	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15145270G>T	ENST00000378197.4	+	3	504				RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Intron|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TCGCTAACATGAATTTTTTCT	0.388																																					GBM(118;1591 1611 9649 34378 50720)	dbGAP											0													43.0	46.0	45.0					10																	15145270		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.-10-34G>T	10.37:g.15145270G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPY0|D3DRT8|Q53F71|Q8NHS8	RNA	SNP	-	NULL	ENST00000378197.4	37	NULL	CCDS7108.1	10																																																																																			NMT2	-	-	ENSG00000152465		0.388	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046976.1	54	0.00	0	G	NM_006414		15145270	15145270	-1	no_errors	ENST00000466201	ensembl	human	known	69_37n	rna	39	29.09	16	SNP	0.000	T
NMT2	9397	genome.wustl.edu	37	10	15161458	15161458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:15161458G>A	ENST00000378165.4	-	9	1134	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R164*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R339*|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R339*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	352					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433																																					Melanoma(117;1345 1645 4130 12688 30625)	dbGAP											0													195.0	177.0	183.0					10																	15161458		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1054C>T	10.37:g.15161458G>A	ENSP00000367407:p.Arg352*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.R383*	ENST00000378165.4	37	c.1147	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.418072	0.98272	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	.	.	.	5.69	3.78	0.43462	.	0.410282	0.26684	N	0.023024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3702	12.722	0.57147	0.0:0.1261:0.7426:0.1313	.	.	.	.	X	352;339;383;164;339	.	.	R	-	1	2	NMT2	15201464	1.000000	0.71417	0.821000	0.32701	0.980000	0.70556	4.186000	0.58337	0.712000	0.32039	0.655000	0.94253	CGA	NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.433	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	408	0.00	0	G	NM_004808		15161458	15161458	-1	no_errors	ENST00000378143	ensembl	human	known	69_37n	nonsense	201	33.99	104	SNP	0.700	A
NMU	10874	genome.wustl.edu	37	4	56466709	56466709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:56466709G>A	ENST00000264218.3	-	8	574	c.469C>T	c.(469-471)Cga>Tga	p.R157*	NMU_ENST00000515325.1_5'UTR|NMU_ENST00000511469.1_Nonsense_Mutation_p.R141*|NMU_ENST00000505262.1_Nonsense_Mutation_p.R130*|NMU_ENST00000507338.1_Nonsense_Mutation_p.R132*	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	157					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		AAATATCCTCGACTTTGACTT	0.299																																						dbGAP											0													53.0	58.0	57.0					4																	56466709		2203	4295	6498	-	-	-	SO:0001587	stop_gained	0			X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.469C>T	4.37:g.56466709G>A	ENSP00000264218:p.Arg157*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_NMU_C,smart_NMU_C	p.R157*	ENST00000264218.3	37	c.469	CCDS3501.1	4	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682902	0.47991	.	.	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	.	.	.	4.72	-2.55	0.06288	.	0.275041	0.28510	N	0.015085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0E-4	8.8717	0.35320	0.0:0.2078:0.1998:0.5923	.	.	.	.	X	141;157;130;140;132	.	ENSP00000264218:R157X	R	-	1	2	NMU	56161466	0.594000	0.26849	0.000000	0.03702	0.851000	0.48451	0.433000	0.21477	-0.923000	0.03785	-0.291000	0.09656	CGA	NMU	-	pfam_NMU_C,smart_NMU_C	ENSG00000109255		0.299	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMU	HGNC	protein_coding	OTTHUMT00000220006.2	131	0.00	0	G			56466709	56466709	-1	no_errors	ENST00000264218	ensembl	human	known	69_37n	nonsense	65	15.58	12	SNP	0.000	A
NOA1	84273	genome.wustl.edu	37	4	57834567	57834567	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:57834567G>A	ENST00000264230.4	-	4	2867	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	544					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										AAATCTATGCGGCCTATAGCA	0.353																																						dbGAP											0													67.0	71.0	70.0					4																	57834567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1630C>T	4.37:g.57834567G>A	ENSP00000264230:p.Arg544Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.R544C	ENST00000264230.4	37	c.1630	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004657	0.74932	.	.	ENSG00000084092	ENST00000264230	T	0.51071	0.72	5.93	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83324	-0.0016	10	0.87932	D	0	.	14.6581	0.68850	0.0704:0.0:0.9296:0.0	.	544	Q8NC60	CD014_HUMAN	C	544	ENSP00000264230:R544C	ENSP00000264230:R544C	R	-	1	0	C4orf14	57529324	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.544000	0.67231	1.506000	0.48736	0.563000	0.77884	CGC	NOA1	-	NULL	ENSG00000084092		0.353	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	134	0.00	0	G	NM_032313		57834567	57834567	-1	no_errors	ENST00000264230	ensembl	human	known	69_37n	missense	110	14.06	18	SNP	1.000	A
NOA1	84273	genome.wustl.edu	37	4	57839409	57839409	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:57839409T>C	ENST00000264230.4	-	3	2657	c.1420A>G	c.(1420-1422)Aca>Gca	p.T474A		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	474	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GATTTGTGTGTACCCATAACA	0.388																																						dbGAP											0													234.0	230.0	231.0					4																	57839409		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1420A>G	4.37:g.57839409T>C	ENSP00000264230:p.Thr474Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	NULL	p.T474A	ENST00000264230.4	37	c.1420	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.822877	0.00589	.	.	ENSG00000084092	ENST00000264230	T	0.30714	1.52	5.19	-0.175	0.13315	.	1.703190	0.02583	N	0.099067	T	0.08268	0.0206	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34825	-0.9813	10	0.06757	T	0.87	.	5.1975	0.15246	0.0:0.375:0.2927:0.3323	.	474	Q8NC60	CD014_HUMAN	A	474	ENSP00000264230:T474A	ENSP00000264230:T474A	T	-	1	0	C4orf14	57534166	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.985000	0.01485	0.183000	0.20059	-0.177000	0.13119	ACA	NOA1	-	NULL	ENSG00000084092		0.388	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	205	0.00	0	T	NM_032313		57839409	57839409	-1	no_errors	ENST00000264230	ensembl	human	known	69_37n	missense	124	29.14	51	SNP	0.000	C
NOC3L	64318	genome.wustl.edu	37	10	96093961	96093961	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:96093961C>T	ENST00000371361.3	-	21	2476	c.2376G>A	c.(2374-2376)acG>acA	p.T792T	NOC3L_ENST00000371350.1_Silent_p.T792T|NOC3L_ENST00000543788.1_Intron	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	792					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T792T(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCAAATATTTCGTGAAATCCA	0.333																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											85.0	85.0	85.0					10																	96093961		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.2376G>A	10.37:g.96093961C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5M6|Q9H9D8	Silent	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.T792	ENST00000371361.3	37	c.2376	CCDS7433.1	10																																																																																			NOC3L	-	pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.333	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	121	0.00	0	C	NM_022451		96093961	96093961	-1	no_errors	ENST00000371350	ensembl	human	known	69_37n	silent	98	23.44	30	SNP	0.176	T
NOC3L	64318	genome.wustl.edu	37	10	96121509	96121509	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:96121509T>C	ENST00000371361.3	-	2	230	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	NOC3L_ENST00000371350.1_Missense_Mutation_p.K44E|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	44					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CTCTGTTCTTTTCGGTACTTC	0.373																																						dbGAP											0													281.0	248.0	260.0					10																	96121509		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.130A>G	10.37:g.96121509T>C	ENSP00000360412:p.Lys44Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.K44E	ENST00000371361.3	37	c.130	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264641	0.80358	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.12361	2.69;2.69	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	N	0.19112	0.55	0.58432	D	0.999998	D	0.69078	0.997	D	0.75020	0.985	T	0.06144	-1.0843	10	0.30078	T	0.28	-4.777	14.8677	0.70430	0.0:0.0:0.0:1.0	.	44	Q8WTT2	NOC3L_HUMAN	E	44	ENSP00000360412:K44E;ENSP00000360401:K44E	ENSP00000360401:K44E	K	-	1	0	NOC3L	96111499	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.671000	0.83941	1.916000	0.55485	0.459000	0.35465	AAA	NOC3L	-	pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.373	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	458	0.00	0	T	NM_022451		96121509	96121509	-1	no_errors	ENST00000371350	ensembl	human	known	69_37n	missense	301	24.12	96	SNP	0.999	C
NOL10	79954	genome.wustl.edu	37	2	10808824	10808824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:10808824C>A	ENST00000381685.5	-	7	595	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	NOL10_ENST00000542668.1_Nonsense_Mutation_p.E114*|NOL10_ENST00000345985.3_Nonsense_Mutation_p.E164*|NOL10_ENST00000538384.1_Nonsense_Mutation_p.E138*	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	164						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CGTCCTTGTTCTAAGTTTAAC	0.318																																						dbGAP											0													75.0	70.0	72.0					2																	10808824		2199	4296	6495	-	-	-	SO:0001587	stop_gained	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.490G>T	2.37:g.10808824C>A	ENSP00000371101:p.Glu164*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Nonsense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E164*	ENST00000381685.5	37	c.490	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	36	5.896226	0.97081	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384;ENST00000431319	.	.	.	5.21	5.21	0.72293	.	0.044558	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-29.2131	19.119	0.93355	0.0:1.0:0.0:0.0	.	.	.	.	X	164;164;114;138;55	.	ENSP00000263837:E164X	E	-	1	0	NOL10	10726275	1.000000	0.71417	0.927000	0.36925	0.989000	0.77384	7.213000	0.77950	2.589000	0.87451	0.563000	0.77884	GAA	NOL10	-	superfamily_WD40_repeat_dom	ENSG00000115761		0.318	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	272	0.00	0	C	NM_024894		10808824	10808824	-1	no_errors	ENST00000381685	ensembl	human	known	69_37n	nonsense	223	28.75	90	SNP	1.000	A
NOL12	79159	genome.wustl.edu	37	22	38083950	38083950	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:38083950C>T	ENST00000359114.4	+	2	187	c.117C>T	c.(115-117)gtC>gtT	p.V39V	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	39						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					AGCGGAAGGTCGAGCGAAAGA	0.572																																						dbGAP											0													29.0	26.0	27.0					22																	38083950		2195	4282	6477	-	-	-	SO:0001819	synonymous_variant	0			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.117C>T	22.37:g.38083950C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Nucleolar_protein_12	p.V39	ENST00000359114.4	37	c.117	CCDS13955.1	22																																																																																			NOL12	-	pfam_Nucleolar_protein_12	ENSG00000256872		0.572	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL12	HGNC	protein_coding	OTTHUMT00000319476.1	34	0.00	0	C	NM_024313		38083950	38083950	+1	no_errors	ENST00000359114	ensembl	human	known	69_37n	silent	14	26.32	5	SNP	0.998	T
NOL7	51406	genome.wustl.edu	37	6	13620560	13620560	+	Splice_Site	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:13620560T>G	ENST00000451315.2	+	6	653	c.621T>G	c.(619-621)acT>acG	p.T207T	RANBP9_ENST00000469916.1_5'Flank|NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Splice_Site	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	207						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			ACAGGACTACTGGTAATTTTT	0.353																																						dbGAP											0													124.0	125.0	125.0					6																	13620560		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF172066	CCDS4528.1	6p23	2008-05-23	2004-02-10		ENSG00000225921	ENSG00000225921			21040	protein-coding gene	gene with protein product		611533	"""chromosome 6 open reading frame 90"", ""polyglutamine binding protein 3"""	C6orf90, PQBP3		16205646	Standard	NM_016167		Approved	NOP27, RARG-1, dJ223E5.2	uc003naz.3	Q9UMY1	OTTHUMG00000014277	ENST00000451315.2:c.622+1T>G	6.37:g.13620560T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T297|Q9Y3U7	Silent	SNP	pfam_NUC129	p.T207	ENST00000451315.2	37	c.621	CCDS4528.1	6																																																																																			NOL7	-	pfam_NUC129	ENSG00000225921		0.353	NOL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL7	HGNC	protein_coding	OTTHUMT00000039904.1	447	0.00	0	T	NM_016167	Silent	13620560	13620560	+1	no_errors	ENST00000451315	ensembl	human	known	69_37n	silent	296	12.94	44	SNP	0.957	G
NOL8	55035	genome.wustl.edu	37	9	95077825	95077825	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:95077825G>T	ENST00000535387.1	-	6	1081	c.1082C>A	c.(1081-1083)tCt>tAt	p.S361Y	NOL8_ENST00000358855.4_Missense_Mutation_p.S293Y|NOL8_ENST00000442668.2_Missense_Mutation_p.S361Y|NOL8_ENST00000542053.1_Missense_Mutation_p.S293Y|NOL8_ENST00000545558.1_Missense_Mutation_p.S361Y					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATCATGGCAAGAGACACGATT	0.348																																						dbGAP											0													68.0	58.0	61.0					9																	95077825		1866	4106	5972	-	-	-	SO:0001583	missense	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1082C>A	9.37:g.95077825G>T	ENSP00000441300:p.Ser361Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S361Y	ENST00000535387.1	37	c.1082	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923644	0.33908	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.47528	2.42;2.43;2.42;2.64;2.43;2.16;0.84	5.5	3.67	0.42095	.	0.850961	0.10446	N	0.673651	T	0.25975	0.0633	N	0.08118	0	0.09310	N	1	P	0.41947	0.766	B	0.37047	0.24	T	0.04128	-1.0975	10	0.45353	T	0.12	-0.0422	7.6949	0.28590	0.2777:0.0:0.7223:0.0	.	361	Q76FK4	NOL8_HUMAN	Y	361;363;293;361;361;293;361;361	ENSP00000401177:S361Y;ENSP00000351723:S293Y;ENSP00000441140:S361Y;ENSP00000441300:S361Y;ENSP00000440709:S293Y;ENSP00000414112:S361Y;ENSP00000412471:S361Y	ENSP00000351723:S293Y	S	-	2	0	NOL8	94117646	0.000000	0.05858	0.003000	0.11579	0.748000	0.42578	0.537000	0.23144	1.331000	0.45412	0.609000	0.83330	TCT	NOL8	-	NULL	ENSG00000198000		0.348	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	250	0.00	0	G	NM_017948		95077825	95077825	-1	no_errors	ENST00000442668	ensembl	human	known	69_37n	missense	208	15.10	37	SNP	0.000	T
NOS1	4842	genome.wustl.edu	37	12	117681165	117681165	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:117681165G>A	ENST00000338101.4	-	19	3005	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	NOS1_ENST00000317775.6_Missense_Mutation_p.R967C|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCCAGCTGCGATCATTGCTG	0.512																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													283.0	266.0	272.0					12																	117681165		2051	4197	6248	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3001C>T	12.37:g.117681165G>A	ENSP00000337459:p.Arg1001Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R967C	ENST00000338101.4	37	c.2899	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073980	0.55646	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.01438	4.89;4.91	3.59	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	L	0.44542	1.39	0.80722	D	1	B	0.33477	0.413	B	0.25884	0.064	T	0.65331	-0.6194	10	0.35671	T	0.21	-24.6274	15.7365	0.77849	0.0:0.0:1.0:0.0	.	967	P29475	NOS1_HUMAN	C	862;967;967;1001	ENSP00000320758:R967C;ENSP00000337459:R1001C	ENSP00000320758:R967C	R	-	1	0	NOS1	116165548	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.242000	0.95408	2.006000	0.58801	0.305000	0.20034	CGC	NOS1	-	pirsf_NOS_met	ENSG00000089250		0.512	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	765	0.00	0	G			117681165	117681165	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	719	12.73	105	SNP	1.000	A
NOS1	4842	genome.wustl.edu	37	12	117698325	117698325	+	Missense_Mutation	SNP	G	G	A	rs150227193		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:117698325G>A	ENST00000338101.4	-	13	2316	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	NOS1_ENST00000317775.6_Missense_Mutation_p.S771L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.S771L(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATAAGCTTGCGATTTGCCTGT	0.542																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											3	Substitution - Missense(3)	skin(2)|large_intestine(1)											106.0	106.0	106.0					12																	117698325		2011	4174	6185	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2312C>T	12.37:g.117698325G>A	ENSP00000337459:p.Ser771Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.S771L	ENST00000338101.4	37	c.2312	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893065	0.91889	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.62498	0.02;0.02	5.2	5.2	0.72013	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.89697	0.3902	10	0.87932	D	0	-7.2635	18.9373	0.92590	0.0:0.0:1.0:0.0	.	771	P29475	NOS1_HUMAN	L	666;771;771;771	ENSP00000320758:S771L;ENSP00000337459:S771L	ENSP00000320758:S771L	S	-	2	0	NOS1	116182708	1.000000	0.71417	0.938000	0.37757	0.607000	0.37147	9.623000	0.98386	2.722000	0.93159	0.655000	0.94253	TCG	NOS1	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	ENSG00000089250		0.542	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	410	0.00	0	G			117698325	117698325	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	270	29.69	114	SNP	1.000	A
NOS1AP	9722	genome.wustl.edu	37	1	162326798	162326798	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:162326798C>T	ENST00000361897.5	+	8	1213	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	NOS1AP_ENST00000530878.1_Missense_Mutation_p.L266F	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	271					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CAGGATGCTGCTCCCTTCTTC	0.607																																						dbGAP											0													168.0	166.0	166.0					1																	162326798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.811C>T	1.37:g.162326798C>T	ENSP00000355133:p.Leu271Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF5|O43564|Q3T551|Q5VU95	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.L271F	ENST00000361897.5	37	c.811	CCDS1237.1	1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.510774	0.44660	.	.	ENSG00000198929	ENST00000530878;ENST00000361897	T;T	0.80304	-1.36;-1.35	5.49	3.61	0.41365	.	0.126375	0.56097	D	0.000038	T	0.79070	0.4384	M	0.62723	1.935	.	.	.	P;D;D	0.76494	0.845;0.999;0.999	B;D;D	0.68765	0.261;0.96;0.96	T	0.76189	-0.3050	9	0.23891	T	0.37	.	9.403	0.38444	0.1438:0.7811:0.0:0.0751	.	266;266;271	E9PSG0;B7ZLF5;O75052	.;.;CAPON_HUMAN	F	266;271	ENSP00000431586:L266F;ENSP00000355133:L271F	ENSP00000355133:L271F	L	+	1	0	NOS1AP	160593422	1.000000	0.71417	0.049000	0.19019	0.021000	0.10359	4.384000	0.59607	0.661000	0.30985	-0.140000	0.14226	CTC	NOS1AP	-	NULL	ENSG00000198929		0.607	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	64	0.00	0	C	NM_014697		162326798	162326798	+1	no_errors	ENST00000361897	ensembl	human	known	69_37n	missense	37	15.56	7	SNP	0.990	T
NOS2	4843	genome.wustl.edu	37	17	26105953	26105953	+	Silent	SNP	G	G	A	rs151070816		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26105953G>A	ENST00000313735.6	-	10	1367	c.1134C>T	c.(1132-1134)atC>atT	p.I378I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	378					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCCGGACTCCGATCTCTGTGC	0.627																																						dbGAP											0													74.0	74.0	74.0					17																	26105953		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1134C>T	17.37:g.26105953G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.I378	ENST00000313735.6	37	c.1134	CCDS11223.1	17																																																																																			NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000007171		0.627	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	119	0.00	0	G	NM_000625		26105953	26105953	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	silent	52	18.75	12	SNP	0.942	A
NOS2	4843	genome.wustl.edu	37	17	26114738	26114738	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26114738C>T	ENST00000313735.6	-	5	666	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	145					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TTGACAAATTCGATAGCTTGA	0.527																																						dbGAP											0													141.0	146.0	144.0					17																	26114738		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.433G>A	17.37:g.26114738C>T	ENSP00000327251:p.Glu145Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E145K	ENST00000313735.6	37	c.433	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997367	0.74818	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.24350	1.86	5.64	4.67	0.58626	Nitric oxide synthase, oxygenase domain (3);	0.250293	0.38720	N	0.001591	T	0.31670	0.0804	M	0.68317	2.08	0.43334	D	0.995374	B;P	0.37612	0.148;0.602	B;B	0.37550	0.018;0.253	T	0.16689	-1.0394	10	0.59425	D	0.04	.	15.7108	0.77626	0.0:0.8629:0.1371:0.0	.	145;145	F8WEM3;P35228	.;NOS2_HUMAN	K	145	ENSP00000327251:E145K	ENSP00000305638:E145K	E	-	1	0	NOS2	23138865	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	4.591000	0.61019	1.390000	0.46547	0.557000	0.71058	GAA	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000007171		0.527	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	369	0.00	0	C	NM_000625		26114738	26114738	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	154	32.16	73	SNP	0.990	T
NPAS2	4862	genome.wustl.edu	37	2	101581341	101581341	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:101581341G>A	ENST00000335681.5	+	9	1021	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NPAS2_ENST00000542504.1_Missense_Mutation_p.E311K	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	246	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATAGTTGACGAACCTTTAGA	0.408																																						dbGAP											0													67.0	69.0	68.0					2																	101581341		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.736G>A	2.37:g.101581341G>A	ENSP00000338283:p.Glu246Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.E311K	ENST00000335681.5	37	c.931	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985549	0.93044	.	.	ENSG00000170485	ENST00000335681;ENST00000542504	T;T	0.05855	3.39;3.38	5.44	4.56	0.56223	PAS (1);	0.047832	0.85682	D	0.000000	T	0.19248	0.0462	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;P	0.73708	0.981;0.877	T	0.00388	-1.1771	10	0.59425	D	0.04	.	14.5588	0.68120	0.0712:0.0:0.9288:0.0	.	311;246	F5H027;Q99743	.;NPAS2_HUMAN	K	246;311	ENSP00000338283:E246K;ENSP00000438428:E311K	ENSP00000338283:E246K	E	+	1	0	NPAS2	100947773	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.915000	0.87484	1.284000	0.44531	0.655000	0.94253	GAA	NPAS2	-	smart_PAS	ENSG00000170485		0.408	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	151	0.00	0	G			101581341	101581341	+1	no_errors	ENST00000542504	ensembl	human	known	69_37n	missense	91	12.38	13	SNP	1.000	A
NPAS2	4862	genome.wustl.edu	37	2	101598697	101598697	+	Missense_Mutation	SNP	C	C	T	rs530175072		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:101598697C>T	ENST00000335681.5	+	16	1772	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L	NPAS2_ENST00000542504.1_Missense_Mutation_p.S561L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	496					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGAAGTTTTCGGCACAGTTC	0.507																																						dbGAP											0													72.0	69.0	70.0					2																	101598697		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1487C>T	2.37:g.101598697C>T	ENSP00000338283:p.Ser496Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.S561L	ENST00000335681.5	37	c.1682	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224144	0.79576	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.37058	3.32;3.28;1.22	5.56	5.56	0.83823	.	1.380920	0.05160	N	0.497589	T	0.62744	0.2453	M	0.75264	2.295	0.37916	D	0.931549	D;D;D	0.64830	0.994;0.98;0.99	P;P;P	0.59546	0.859;0.511;0.727	T	0.51537	-0.8693	10	0.66056	D	0.02	.	15.8369	0.78805	0.0:0.8641:0.1359:0.0	.	561;496;496	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	L	496;561;95	ENSP00000338283:S496L;ENSP00000438428:S561L;ENSP00000392125:S95L	ENSP00000338283:S496L	S	+	2	0	NPAS2	100965129	0.851000	0.29673	0.287000	0.24848	0.947000	0.59692	3.677000	0.54619	2.615000	0.88500	0.655000	0.94253	TCG	NPAS2	-	NULL	ENSG00000170485		0.507	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	140	0.00	0	C			101598697	101598697	+1	no_errors	ENST00000542504	ensembl	human	known	69_37n	missense	111	11.90	15	SNP	0.650	T
NPHP1	4867	genome.wustl.edu	37	2	110905498	110905498	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:110905498G>A	ENST00000393272.3	-	13	1526	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	NPHP1_ENST00000355301.4_Missense_Mutation_p.R359C|NPHP1_ENST00000445609.2_Missense_Mutation_p.R422C|NPHP1_ENST00000316534.4_Missense_Mutation_p.R478C|NPHP1_ENST00000417665.1_Missense_Mutation_p.R421C	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	477					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATACATTGCGAATATAAGAA	0.338																																						dbGAP											0													69.0	72.0	71.0					2																	110905498		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1429C>T	2.37:g.110905498G>A	ENSP00000376953:p.Arg477Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R478C	ENST00000393272.3	37	c.1432	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874604	0.51695	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.67698	-0.27;-0.26;-0.28;-0.21;-0.25	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.72118	2.19	0.80722	D	1	B;B;B;B;P;B	0.35208	0.358;0.11;0.094;0.065;0.49;0.085	B;B;B;B;B;B	0.28139	0.064;0.024;0.005;0.022;0.086;0.03	T	0.69157	-0.5219	10	0.56958	D	0.05	-13.5119	17.1875	0.86870	0.0:0.0:1.0:0.0	.	421;421;359;477;422;478	B4DQY0;C9JNM7;O15259-3;O15259;O15259-2;O15259-4	.;.;.;NPHP1_HUMAN;.;.	C	478;422;477;359;421	ENSP00000313169:R478C;ENSP00000389879:R422C;ENSP00000376953:R477C;ENSP00000347452:R359C;ENSP00000402176:R421C	ENSP00000313169:R478C	R	-	1	0	NPHP1	110262787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.527000	0.53517	2.665000	0.90641	0.655000	0.94253	CGC	NPHP1	-	NULL	ENSG00000144061		0.338	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	93	0.00	0	G	NM_000272		110905498	110905498	-1	no_errors	ENST00000316534	ensembl	human	known	69_37n	missense	70	13.58	11	SNP	1.000	A
NPHP3	27031	genome.wustl.edu	37	3	132427046	132427046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:132427046G>A	ENST00000337331.5	-	7	1260	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	NPHP3_ENST00000326682.8_Nonsense_Mutation_p.R392*|NPHP3_ENST00000476742.1_5'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	392					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGATTAATCGAGGTTTTCCT	0.383																																						dbGAP											0													88.0	90.0	89.0					3																	132427046		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1174C>T	3.37:g.132427046G>A	ENSP00000338766:p.Arg392*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R392*	ENST00000337331.5	37	c.1174	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.545187	0.97654	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	.	.	.	5.71	4.83	0.62350	.	0.221320	0.40064	N	0.001200	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.8234	10.3772	0.44090	0.0703:0.1353:0.7945:0.0	.	.	.	.	X	392	.	ENSP00000319909:R392X	R	-	1	2	NPHP3	133909736	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	3.886000	0.56190	1.382000	0.46385	0.655000	0.94253	CGA	NPHP3	-	NULL	ENSG00000113971		0.383	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	145	0.00	0	G	NM_153240		132427046	132427046	-1	no_errors	ENST00000337331	ensembl	human	known	69_37n	nonsense	114	25.00	38	SNP	0.989	A
NPNT	255743	genome.wustl.edu	37	4	106819082	106819082	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:106819082G>A	ENST00000379987.2	+	2	312	c.96G>A	c.(94-96)tcG>tcA	p.S32S	NPNT_ENST00000305572.8_Silent_p.S32S|NPNT_ENST00000514622.1_Silent_p.S32S|NPNT_ENST00000427316.2_Silent_p.S32S|NPNT_ENST00000453617.2_Silent_p.S32S|NPNT_ENST00000506666.1_Silent_p.S32S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	32					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TAGTGTCATCGATTGGCCTAT	0.458																																						dbGAP											0													130.0	118.0	122.0					4																	106819082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.96G>A	4.37:g.106819082G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_FH2_actin-bd,superfamily_TIL_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_MAM_dom	p.D9N	ENST00000379987.2	37	c.25	CCDS34046.1	4	.	.	.	.	.	.	.	.	.	.	G	1.812	-0.474524	0.04414	.	.	ENSG00000168743	ENST00000514837	.	.	.	5.81	-6.69	0.01772	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51284	-0.8725	4	.	.	.	.	7.8555	0.29480	0.3751:0.1546:0.417:0.0533	.	.	.	.	N	9	.	.	D	+	1	0	NPNT	107038531	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-3.884000	0.00342	-2.271000	0.00683	-0.137000	0.14449	GAT	NPNT	-	NULL	ENSG00000168743		0.458	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	276	0.00	0	G	NM_198278		106819082	106819082	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000514837	ensembl	human	putative	69_37n	missense	152	22.45	44	SNP	0.449	A
NPNT	255743	genome.wustl.edu	37	4	106863757	106863757	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:106863757G>A	ENST00000379987.2	+	8	1273	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	NPNT_ENST00000453617.2_Missense_Mutation_p.G370R|NPNT_ENST00000514622.1_Missense_Mutation_p.G353R|NPNT_ENST00000427316.2_Missense_Mutation_p.G383R|NPNT_ENST00000305572.8_Missense_Mutation_p.G353R|NPNT_ENST00000506666.1_Missense_Mutation_p.G383R	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	353	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GCCAACCACCGGACTGACAAC	0.537																																						dbGAP											0													124.0	115.0	118.0					4																	106863757		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1057G>A	4.37:g.106863757G>A	ENSP00000369323:p.Gly353Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.G353R	ENST00000379987.2	37	c.1057	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.013|0.013	-1.618926|-1.618926	0.00828|0.00828	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.78364|.	-0.74;-1.1;-0.83;-1.17;-0.83;-0.84;0.01|.	5.02|5.02	-1.72|-1.72	0.08107|0.08107	.|.	0.778678|.	0.12382|.	N|.	0.473788|.	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0;0.0;0.0|.	T|T	0.30650|0.30650	-0.9971|-0.9971	10|5	0.11485|.	T|.	0.65|.	.|.	3.2576|3.2576	0.06837|0.06837	0.6338:0.1084:0.1399:0.1179|0.6338:0.1084:0.1399:0.1179	.|.	353;383;383;370;400;353;353|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	R|Q	353;370;383;353;353;383;400|329	ENSP00000369323:G353R;ENSP00000402884:G370R;ENSP00000389252:G383R;ENSP00000422044:G353R;ENSP00000302557:G353R;ENSP00000422474:G383R;ENSP00000426146:G400R|.	ENSP00000302557:G353R|.	G|R	+|+	1|2	0|0	NPNT|NPNT	107083206|107083206	0.000000|0.000000	0.05858|0.05858	0.036000|0.036000	0.18154|0.18154	0.025000|0.025000	0.11179|0.11179	0.050000|0.050000	0.14120|0.14120	-0.046000|-0.046000	0.13446|0.13446	-0.417000|-0.417000	0.06048|0.06048	GGA|CGG	NPNT	-	NULL	ENSG00000168743		0.537	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	468	0.00	0	G	NM_198278		106863757	106863757	+1	no_errors	ENST00000379987	ensembl	human	known	69_37n	missense	260	15.86	49	SNP	0.001	A
NPR2	4882	genome.wustl.edu	37	9	35800119	35800119	+	Missense_Mutation	SNP	G	G	A	rs554019454		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:35800119G>A	ENST00000342694.2	+	4	1343	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	363					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GATGGACTTCGAATTGTGGAA	0.498													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20592	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													159.0	156.0	157.0					9																	35800119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1088G>A	9.37:g.35800119G>A	ENSP00000341083:p.Arg363Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.R363Q	ENST00000342694.2	37	c.1088	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738189	0.30774	.	.	ENSG00000159899	ENST00000342694	T	0.81247	-1.47	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.35495	N	0.003163	T	0.53916	0.1826	N	0.04508	-0.205	0.29293	N	0.869246	P;B	0.37398	0.593;0.084	B;B	0.24155	0.037;0.051	T	0.53704	-0.8401	10	0.13470	T	0.59	.	12.0834	0.53684	0.0864:0.0:0.9136:0.0	.	363;363	P20594-2;P20594	.;ANPRB_HUMAN	Q	363	ENSP00000341083:R363Q	ENSP00000341083:R363Q	R	+	2	0	NPR2	35790119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.243000	0.43115	2.699000	0.92147	0.655000	0.94253	CGA	NPR2	-	pfam_ANF_lig-bd_rcpt	ENSG00000159899		0.498	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	676	0.15	1	G			35800119	35800119	+1	no_errors	ENST00000342694	ensembl	human	known	69_37n	missense	515	14.14	85	SNP	0.997	A
NR1H2	7376	genome.wustl.edu	37	19	50881436	50881436	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:50881436G>A	ENST00000253727.5	+	5	447	c.212G>A	c.(211-213)cGc>cAc	p.R71H	NR1H2_ENST00000599105.1_Missense_Mutation_p.R71H|NR1H2_ENST00000598168.1_Missense_Mutation_p.R71H|NR1H2_ENST00000593926.1_Missense_Mutation_p.R71H|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Intron	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	71					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GAACCAGAGCGCAAGCGAAAG	0.602																																						dbGAP											0													99.0	117.0	111.0					19																	50881436		2116	4263	6379	-	-	-	SO:0001583	missense	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.212G>A	19.37:g.50881436G>A	ENSP00000253727:p.Arg71His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.R71H	ENST00000253727.5	37	c.212	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176933	0.57692	.	.	ENSG00000131408	ENST00000253727;ENST00000376942	D	0.92099	-2.97	4.74	3.69	0.42338	.	0.000000	0.64402	D	0.000010	D	0.88930	0.6571	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.51806	0.68;0.68	D	0.88807	0.3289	10	0.44086	T	0.13	.	13.6698	0.62418	0.0:0.0:0.844:0.156	.	71;71	P55055;F1D8P7	NR1H2_HUMAN;.	H	71	ENSP00000253727:R71H	ENSP00000253727:R71H	R	+	2	0	NR1H2	55573248	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.745000	0.47459	1.351000	0.45789	0.561000	0.74099	CGC	NR1H2	-	NULL	ENSG00000131408		0.602	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	42	0.00	0	G			50881436	50881436	+1	no_errors	ENST00000253727	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	A
NR1H2	7376	genome.wustl.edu	37	19	50881949	50881949	+	Missense_Mutation	SNP	G	G	A	rs140558724		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:50881949G>A	ENST00000253727.5	+	6	878	c.643G>A	c.(643-645)Gag>Aag	p.E215K	NR1H2_ENST00000599105.1_Missense_Mutation_p.E215K|NR1H2_ENST00000598168.1_Missense_Mutation_p.E215K|NR1H2_ENST00000593926.1_Missense_Mutation_p.E215K|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.E118K	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	215					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGGGGAAGGCGAGGGTGTCCA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17376	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	49.0	46.0					19																	50881949		2116	4241	6357	-	-	-	SO:0001583	missense	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.643G>A	19.37:g.50881949G>A	ENSP00000253727:p.Glu215Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.E215K	ENST00000253727.5	37	c.643	CCDS42593.1	19	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	2.189	-0.385751	0.04966	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	D;D	0.91894	-2.87;-2.93	4.95	0.526	0.17078	Nuclear hormone receptor, ligand-binding (1);	0.118777	0.38326	N	0.001722	T	0.80964	0.4725	L	0.38175	1.15	0.09310	N	0.999994	B;B;P	0.48089	0.259;0.002;0.905	B;B;B	0.35353	0.029;0.001;0.201	T	0.75156	-0.3417	10	0.07813	T	0.8	.	8.3328	0.32197	0.344:0.0:0.656:0.0	.	215;118;216	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	K	215;118;215	ENSP00000253727:E215K;ENSP00000396151:E118K	ENSP00000253727:E215K	E	+	1	0	NR1H2	55573761	0.461000	0.25783	0.001000	0.08648	0.007000	0.05969	2.705000	0.47127	0.388000	0.25054	0.655000	0.94253	GAG	NR1H2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000131408		0.642	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	71	0.00	0	G			50881949	50881949	+1	no_errors	ENST00000253727	ensembl	human	known	69_37n	missense	13	50.00	14	SNP	0.000	A
NR1H4	9971	genome.wustl.edu	37	12	100930752	100930752	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:100930752A>T	ENST00000551379.1	+	6	916	c.888A>T	c.(886-888)gaA>gaT	p.E296D	NR1H4_ENST00000548884.1_Missense_Mutation_p.E282D|NR1H4_ENST00000549996.1_Missense_Mutation_p.E235D|NR1H4_ENST00000188403.7_Missense_Mutation_p.E292D|NR1H4_ENST00000392986.3_Missense_Mutation_p.E286D			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	296	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GTGCAGAAGAAAATTTTCTCA	0.254																																						dbGAP											0													61.0	73.0	69.0					12																	100930752		2186	4280	6466	-	-	-	SO:0001583	missense	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.888A>T	12.37:g.100930752A>T	ENSP00000447149:p.Glu296Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.E296D	ENST00000551379.1	37	c.888	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355323	0.41700	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73	5.18	3.95	0.45737	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.093361	0.64402	D	0.000001	D	0.91476	0.7309	L	0.39147	1.195	0.44956	D	0.997974	B;B;B;B;B	0.11235	0.004;0.002;0.001;0.001;0.002	B;B;B;B;B	0.10450	0.005;0.004;0.003;0.002;0.003	D	0.88012	0.2763	10	0.33940	T	0.23	.	11.0161	0.47689	0.7143:0.2857:0.0:0.0	.	235;296;292;286;282	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	D	282;286;235;296;292	ENSP00000448506:E282D;ENSP00000376712:E286D;ENSP00000448978:E235D;ENSP00000447149:E296D;ENSP00000188403:E292D	ENSP00000188403:E292D	E	+	3	2	NR1H4	99454883	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.692000	0.37731	2.065000	0.61736	0.477000	0.44152	GAA	NR1H4	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000012504		0.254	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	35	0.00	0	A	NM_005123		100930752	100930752	+1	no_errors	ENST00000551379	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	1.000	T
NR3C1	2908	genome.wustl.edu	37	5	142689725	142689725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:142689725G>A	ENST00000343796.2	-	4	2398	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	NR3C1_ENST00000416954.2_Nonsense_Mutation_p.R72*|NR3C1_ENST00000504572.1_Nonsense_Mutation_p.R470*|NR3C1_ENST00000415690.2_Nonsense_Mutation_p.R469*|NR3C1_ENST00000503201.1_Nonsense_Mutation_p.R469*|NR3C1_ENST00000394466.2_Nonsense_Mutation_p.R470*|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000231509.3_Nonsense_Mutation_p.R470*|NR3C1_ENST00000394464.2_Nonsense_Mutation_p.R469*|NR3C1_ENST00000424646.2_Nonsense_Mutation_p.R443*	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	469					adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TTTTTTCTTCGAATTTTATCG	0.378																																						dbGAP											0													85.0	83.0	84.0					5																	142689725		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1405C>T	5.37:g.142689725G>A	ENSP00000343205:p.Arg469*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Nonsense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.R470*	ENST00000343796.2	37	c.1408	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	G	43	9.944394	0.99302	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	.	.	.	6.06	5.18	0.71444	.	0.059973	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4095	0.67106	0.0:0.0:0.7313:0.2687	.	.	.	.	X	469;469;469;469;443;470;470;470;72;469	.	ENSP00000231509:R470X	R	-	1	2	NR3C1	142669918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.681000	0.54648	1.551000	0.49450	0.655000	0.94253	CGA	NR3C1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000113580		0.378	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	295	0.00	0	G			142689725	142689725	-1	no_errors	ENST00000231509	ensembl	human	known	69_37n	nonsense	160	19.80	40	SNP	1.000	A
NR3C2	4306	genome.wustl.edu	37	4	149115952	149115952	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:149115952C>A	ENST00000358102.3	-	4	2321	c.1959G>T	c.(1957-1959)aaG>aaT	p.K653N	NR3C2_ENST00000344721.4_Missense_Mutation_p.K653N|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Missense_Mutation_p.K657N|NR3C2_ENST00000355292.3_Missense_Mutation_p.K657N|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Missense_Mutation_p.K653N	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	653					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CAGGACAATTCTTTCGTCGAA	0.289																																					Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													99.0	99.0	99.0					4																	149115952		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1959G>T	4.37:g.149115952C>A	ENSP00000350815:p.Lys653Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.K657N	ENST00000358102.3	37	c.1971	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026483	0.75390	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.7	4.86	0.63082	.	0.050000	0.85682	D	0.000000	D	0.95586	0.8565	N	0.11673	0.155	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94443	0.7660	9	.	.	.	.	12.1291	0.53932	0.0:0.8614:0.0:0.1386	.	653;653	B0ZBF5;B0ZBF6	.;.	N	653;657;653;653;653;657	ENSP00000341390:K653N;ENSP00000347441:K657N;ENSP00000350815:K653N;ENSP00000423510:K653N;ENSP00000343907:K653N;ENSP00000421481:K657N	.	K	-	3	2	NR3C2	149335402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.128000	0.42045	1.542000	0.49330	0.650000	0.86243	AAG	NR3C2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000151623		0.289	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	427	0.00	0	C			149115952	149115952	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	missense	227	16.85	46	SNP	1.000	A
NR4A1	3164	genome.wustl.edu	37	12	52449884	52449884	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:52449884G>A	ENST00000243050.1	+	4	1261	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	NR4A1_ENST00000550082.1_Missense_Mutation_p.R329Q|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000545748.1_Missense_Mutation_p.R370Q|NR4A1_ENST00000394824.2_Missense_Mutation_p.R316Q|NR4A1_ENST00000360284.3_Missense_Mutation_p.R329Q|NR4A1_ENST00000394825.1_Missense_Mutation_p.R316Q	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AAGAGGCGGCGAAACCGCTGC	0.632																																						dbGAP											0													85.0	80.0	82.0					12																	52449884		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.947G>A	12.37:g.52449884G>A	ENSP00000243050:p.Arg316Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.R370Q	ENST00000243050.1	37	c.1109	CCDS8818.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.450998|5.450998	0.96205|0.96205	.|.	.|.	ENSG00000123358|ENSG00000123358	ENST00000550763|ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	T|D;D;D;D;D;D	0.45668|0.98958	0.89|-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	4.27|4.27	4.27|4.27	0.50696|0.50696	.|Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99387|0.99387	0.9784|0.9784	H|H	0.95365|0.95365	3.66|3.66	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.997;1.0	D|D	0.98294|0.98294	1.0515|1.0515	7|10	0.37606|0.87932	T|D	0.19|0	.|.	16.6594|16.6594	0.85237|0.85237	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|329;316	.|B4DML7;P22736	.|.;NR4A1_HUMAN	K|Q	132|329;370;329;316;316;316	ENSP00000449858:E132K|ENSP00000353427:R329Q;ENSP00000440864:R370Q;ENSP00000449539:R329Q;ENSP00000243050:R316Q;ENSP00000378302:R316Q;ENSP00000378301:R316Q	ENSP00000449858:E132K|ENSP00000243050:R316Q	E|R	+|+	1|2	0|0	NR4A1|NR4A1	50736151|50736151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.530000|9.530000	0.98051|0.98051	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	GAA|CGA	NR4A1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000123358		0.632	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NR4A1	HGNC	protein_coding	OTTHUMT00000317922.2	116	0.00	0	G			52449884	52449884	+1	no_errors	ENST00000545748	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	1.000	A
NR5A2	2494	genome.wustl.edu	37	1	200090049	200090049	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:200090049C>T	ENST00000367362.3	+	7	1590	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	NR5A2_ENST00000236914.3_Silent_p.F402F|NR5A2_ENST00000544748.1_Silent_p.F376F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	448					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACGAGAGTTCGTATGTCTGA	0.413																																					Melanoma(179;1138 2773 15678 26136)	dbGAP											0													208.0	195.0	200.0					1																	200090049		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1344C>T	1.37:g.200090049C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2P3|O95642|Q147U3	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.F448	ENST00000367362.3	37	c.1344	CCDS1401.1	1																																																																																			NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,prints_Str_hrmn_rcpt	ENSG00000116833		0.413	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	241	0.00	0	C			200090049	200090049	+1	no_errors	ENST00000367362	ensembl	human	known	69_37n	silent	189	18.88	44	SNP	0.857	T
NR6A1	2649	genome.wustl.edu	37	9	127302448	127302448	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:127302448C>T	ENST00000487099.2	-	5	617	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	NR6A1_ENST00000416460.2_Missense_Mutation_p.E150K|NR6A1_ENST00000344523.4_Missense_Mutation_p.E154K|NR6A1_ENST00000373584.3_Missense_Mutation_p.E150K	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	154					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGATCCTTTCGATTTCTTCT	0.473																																					Esophageal Squamous(192;272 2884 6208 20560)	dbGAP											0													228.0	190.0	203.0					9																	127302448		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.460G>A	9.37:g.127302448C>T	ENSP00000420267:p.Glu154Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E154K	ENST00000487099.2	37	c.460	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521269	0.85600	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.94092	-3.01;-3.12;-3.13;-3.0;-3.35	5.99	5.99	0.97316	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	L	0.53249	1.67	0.80722	D	1	D;B;D	0.89917	0.984;0.19;1.0	P;B;D	0.80764	0.565;0.06;0.994	D	0.91312	0.5075	10	0.07325	T	0.83	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	150;154;150	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	K	154;150;150;154;112	ENSP00000420267:E154K;ENSP00000362686:E150K;ENSP00000413701:E150K;ENSP00000341135:E154K;ENSP00000420587:E112K	ENSP00000341135:E154K	E	-	1	0	NR6A1	126342269	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	7.263000	0.78421	2.840000	0.97914	0.655000	0.94253	GAA	NR6A1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000148200		0.473	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	417	0.00	0	C			127302448	127302448	-1	no_errors	ENST00000487099	ensembl	human	known	69_37n	missense	412	14.17	68	SNP	1.000	T
NRAP	4892	genome.wustl.edu	37	10	115356935	115356935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115356935G>T	ENST00000359988.3	-	37	4585	c.4341C>A	c.(4339-4341)taC>taA	p.Y1447*	NRAP_ENST00000369358.4_Nonsense_Mutation_p.Y1455*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.Y1412*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.Y1420*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTTTTTTACGGTACTTGGTCT	0.448																																						dbGAP											0													264.0	239.0	247.0					10																	115356935		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4341C>A	10.37:g.115356935G>T	ENSP00000353078:p.Tyr1447*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.Y1455*	ENST00000359988.3	37	c.4365	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	44	10.623320	0.99439	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	.	.	.	5.99	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1982	0.48726	0.3176:0.0:0.6824:0.0	.	.	.	.	X	1455;1420;1447;1412;605	.	ENSP00000353078:Y1447X	Y	-	3	2	NRAP	115346925	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.571000	0.23669	0.813000	0.34350	0.655000	0.94253	TAC	NRAP	-	smart_Nebulin_35r-motif	ENSG00000197893		0.448	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	265	0.00	0	G	NM_006175		115356935	115356935	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	nonsense	207	13.03	31	SNP	0.998	T
NRAP	4892	genome.wustl.edu	37	10	115380437	115380437	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115380437T>G	ENST00000359988.3	-	25	3044	c.2800A>C	c.(2800-2802)Aaa>Caa	p.K934Q	NRAP_ENST00000369358.4_Missense_Mutation_p.K942Q|NRAP_ENST00000360478.3_Missense_Mutation_p.K899Q|NRAP_ENST00000369360.3_Missense_Mutation_p.K907Q	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCCATGCCTTTCATCCACTTC	0.468																																						dbGAP											0													153.0	140.0	144.0					10																	115380437		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2800A>C	10.37:g.115380437T>G	ENSP00000353078:p.Lys934Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.K942Q	ENST00000359988.3	37	c.2824	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673987	0.88445	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.78049	2.395	0.53688	D	0.999978	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.76071	0.96;0.987;0.971	T	0.68569	-0.5374	10	0.54805	T	0.06	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	934;899;934	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Q	942;907;934;899	ENSP00000358365:K942Q;ENSP00000358367:K907Q;ENSP00000353078:K934Q;ENSP00000353666:K899Q	ENSP00000353078:K934Q	K	-	1	0	NRAP	115370427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.488000	0.81441	2.371000	0.80710	0.533000	0.62120	AAA	NRAP	-	pfscan_Nebulin_35r-motif,prints_Nebulin	ENSG00000197893		0.468	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	479	0.21	1	T	NM_006175		115380437	115380437	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	missense	356	10.53	42	SNP	1.000	G
NRBP1	29959	genome.wustl.edu	37	2	27657999	27657999	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27657999G>A	ENST00000233557.3	+	8	1398		c.e8-1		NRBP1_ENST00000379863.3_Splice_Site|NRBP1_ENST00000379852.3_Splice_Site			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1						ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGCCCCCACAGCTACCTGCAC	0.582																																						dbGAP											0													81.0	73.0	76.0					2																	27657999		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.567-1G>A	2.37:g.27657999G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	Splice_Site	SNP	-	e6-1	ENST00000233557.3	37	c.567-1	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790568	0.70337	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1981	0.89829	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRBP1	27511503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.645000	0.98471	2.637000	0.89404	0.655000	0.94253	.	NRBP1	-	-	ENSG00000115216		0.582	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	156	0.63	1	G	NM_013392	Intron	27657999	27657999	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	splice_site	150	29.44	63	SNP	1.000	A
NRBP1	29959	genome.wustl.edu	37	2	27657999	27657999	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27657999G>A	ENST00000233557.3	+	8	1398		c.e8-1		NRBP1_ENST00000379863.3_Splice_Site|NRBP1_ENST00000379852.3_Splice_Site			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1						ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGCCCCCACAGCTACCTGCAC	0.582																																						dbGAP											0													81.0	73.0	76.0					2																	27657999		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.567-1G>A	2.37:g.27657999G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	Splice_Site	SNP	-	e6-1	ENST00000233557.3	37	c.567-1	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790568	0.70337	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1981	0.89829	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRBP1	27511503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.645000	0.98471	2.637000	0.89404	0.655000	0.94253	.	NRBP1	-	-	ENSG00000115216		0.582	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	156	0.63	1	G	NM_013392	Intron	27657999	27657999	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	splice_site	150	29.44	63	SNP	1.000	A
NRBP2	340371	genome.wustl.edu	37	8	144919653	144919653	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:144919653C>A	ENST00000442628.2	-	12	1141	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	NRBP2_ENST00000327830.5_Missense_Mutation_p.E91D	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTTGGTCTTCTCCTCCACCA	0.672																																						dbGAP											0													49.0	43.0	45.0					8																	144919653		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.1002G>T	8.37:g.144919653C>A	ENSP00000414055:p.Glu334Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Kinase-like_dom	p.E91D	ENST00000442628.2	37	c.273	CCDS34959.2	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219123	0.79464	.	.	ENSG00000185189	ENST00000442628;ENST00000327830	T;T	0.41758	0.99;0.99	4.73	-3.74	0.04385	.	0.063000	0.64402	D	0.000006	T	0.47746	0.1462	L	0.56199	1.76	0.29491	N	0.855655	B;D;D;P	0.69078	0.188;0.991;0.997;0.472	B;P;D;B	0.64042	0.068;0.898;0.921;0.295	T	0.50065	-0.8871	10	0.33940	T	0.23	-14.1604	10.6181	0.45462	0.0:0.54:0.0:0.46	.	334;126;126;91	Q9NSY0;Q9NSY0-4;Q9NSY0-2;D3DWK9	NRBP2_HUMAN;.;.;.	D	334;91	ENSP00000414055:E334D;ENSP00000330271:E91D	ENSP00000330271:E91D	E	-	3	2	NRBP2	144991641	0.754000	0.28360	0.992000	0.48379	0.989000	0.77384	-0.138000	0.10374	-0.552000	0.06167	0.585000	0.79938	GAG	NRBP2	-	superfamily_Kinase-like_dom	ENSG00000185189		0.672	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NRBP2	HGNC	protein_coding	OTTHUMT00000382247.1	36	0.00	0	C	NM_178564		144919653	144919653	-1	no_errors	ENST00000327830	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.990	A
NRCAM	4897	genome.wustl.edu	37	7	107790514	107790514	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107790514G>A	ENST00000425651.2	-	30	3755	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_ENST00000379024.4_Silent_p.D1140D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000351718.4_Silent_p.D1131D|NRCAM_ENST00000379028.3_Silent_p.D1252D|NRCAM_ENST00000413765.2_Silent_p.D1128D	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1252					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTAGGCTGTCGTCACTATCTT	0.433																																						dbGAP											0													217.0	192.0	201.0					7																	107790514		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3756C>T	7.37:g.107790514G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	NULL	p.T151M	ENST00000425651.2	37	c.452	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	G	3.696	-0.062504	0.07273	.	.	ENSG00000091129	ENST00000445634	.	.	.	6.17	-2.17	0.07059	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54166	-0.8334	4	.	.	.	.	11.3392	0.49523	0.6338:0.0:0.3662:0.0	.	.	.	.	M	151	.	.	T	-	2	0	NRCAM	107577750	1.000000	0.71417	0.685000	0.30070	0.909000	0.53808	1.744000	0.38268	-0.533000	0.06323	-1.105000	0.02106	ACG	NRCAM	-	NULL	ENSG00000091129		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	550	0.00	0	G	NM_001037132		107790514	107790514	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445634	ensembl	human	novel	69_37n	missense	372	27.49	141	SNP	0.997	A
NRCAM	4897	genome.wustl.edu	37	7	107807429	107807429	+	Nonsense_Mutation	SNP	G	G	A	rs201318713		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107807429G>A	ENST00000425651.2	-	27	3402	c.3403C>T	c.(3403-3405)Cga>Tga	p.R1135*	NRCAM_ENST00000379022.4_Nonsense_Mutation_p.R1135*|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.R1135*|NRCAM_ENST00000413765.2_Intron	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1135	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GCACCAACTCGAACTTTGTAT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16350	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													65.0	70.0	69.0					7																	107807429		2010	4168	6178	-	-	-	SO:0001587	stop_gained	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3403C>T	7.37:g.107807429G>A	ENSP00000401244:p.Arg1135*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1135*	ENST00000425651.2	37	c.3403	CCDS47686.1	7	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	46	12.707037	0.99690	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000425651;ENST00000379022	.	.	.	5.67	3.81	0.43845	.	0.284156	0.35970	N	0.002864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1443	0.48422	0.0716:0.1271:0.8013:0.0	.	.	.	.	X	1135	.	ENSP00000368308:R1135X	R	-	1	2	NRCAM	107594665	1.000000	0.71417	0.988000	0.46212	0.999000	0.98932	4.312000	0.59154	0.804000	0.34136	0.643000	0.83706	CGA	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000091129		0.478	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	273	0.00	0	G	NM_001037132		107807429	107807429	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	nonsense	135	24.16	43	SNP	1.000	A
NRD1	4898	genome.wustl.edu	37	1	52257736	52257736	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:52257736C>T	ENST00000354831.7	-	28	3251	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.R953Q|NRD1_ENST00000539524.1_Missense_Mutation_p.R889Q|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	952					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTGCTTGGTTCGAAGGAAGTC	0.502																																						dbGAP											0													93.0	87.0	89.0					1																	52257736		2203	4300	6503	-	-	-	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3062G>A	1.37:g.52257736C>T	ENSP00000346890:p.Arg1021Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.R1021Q	ENST00000354831.7	37	c.3062	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.318996	0.95682	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.12569	2.67;2.67;2.67	5.26	5.26	0.73747	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.46852	0.1414	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.54510	-0.8283	10	0.87932	D	0	-5.7163	19.0748	0.93156	0.0:1.0:0.0:0.0	.	953;952;1021	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	Q	953;1021;889;383;953	ENSP00000262679:R953Q;ENSP00000346890:R1021Q;ENSP00000444416:R889Q	ENSP00000262679:R953Q	R	-	2	0	NRD1	52030324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.733000	0.93635	0.655000	0.94253	CGA	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000078618		0.502	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	262	0.00	0	C	NM_002525		52257736	52257736	-1	no_errors	ENST00000354831	ensembl	human	known	69_37n	missense	118	12.59	17	SNP	1.000	T
NRG1	3084	genome.wustl.edu	37	8	32474365	32474365	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:32474365G>T	ENST00000405005.3	+	5	464	c.464G>T	c.(463-465)aGa>aTa	p.R155I	NRG1_ENST00000523079.1_Missense_Mutation_p.R155I|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Missense_Mutation_p.R155I|NRG1_ENST00000521670.1_Missense_Mutation_p.R155I|NRG1_ENST00000287842.3_Missense_Mutation_p.R155I|NRG1_ENST00000341377.5_Missense_Mutation_p.R155I|NRG1_ENST00000356819.4_Missense_Mutation_p.R155I|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000519301.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1	155					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTCCCATTAGAATATCAGTA	0.368																																						dbGAP											0													91.0	95.0	94.0					8																	32474365		2202	4300	6502	-	-	-	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.464G>T	8.37:g.32474365G>T	ENSP00000384620:p.Arg155Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Nonsense_Mutation	SNP	pfam_EGF-like_dom,smart_EGF-like,pfscan_EG-like_dom	p.E34*	ENST00000405005.3	37	c.100	CCDS6085.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.70|18.70	3.679258|3.679258	0.68042|0.68042	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000518206|ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	.|T;T;T;T;T;T;T;T;T	.|0.78003	.|-0.71;-0.57;-0.56;-0.6;-0.27;-1.14;-0.38;-0.27;-0.48	5.67|5.67	1.76|1.76	0.24704|0.24704	.|.	.|0.435406	.|0.22309	.|N	.|0.061741	.|T	.|0.76528	.|0.4000	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;B;D;D;D;D;D	.|0.71674	.|0.991;0.996;0.0;0.986;0.989;0.967;0.996;0.998	.|P;P;B;P;P;P;P;D	.|0.76575	.|0.69;0.806;0.0;0.744;0.726;0.642;0.836;0.988	.|T	.|0.71781	.|-0.4489	.|10	.|0.44086	.|T	.|0.13	-12.0009|-12.0009	1.8657|1.8657	0.03198|0.03198	0.1741:0.1622:0.4959:0.1677|0.1741:0.1622:0.4959:0.1677	.|.	.|155;154;155;155;155;155;155;155	.|E9PHH4;B0FYA9;Q02297-4;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8	.|.;.;.;.;NRG1_HUMAN;.;.;.	X|I	34|223;155;155;155;155;155;155;155;155	.|ENSP00000429067:R223I;ENSP00000430120:R155I;ENSP00000343395:R155I;ENSP00000349275:R155I;ENSP00000287840:R155I;ENSP00000340497:R155I;ENSP00000287842:R155I;ENSP00000384620:R155I;ENSP00000428828:R155I	.|ENSP00000287840:R155I	E|R	+|+	1|2	0|0	NRG1|NRG1	32593907|32593907	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	1.432000|1.432000	0.34936|0.34936	0.294000|0.294000	0.22547|0.22547	0.557000|0.557000	0.71058|0.71058	GAA|AGA	NRG1	-	NULL	ENSG00000157168		0.368	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	116	0.00	0	G			32474365	32474365	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000518206	ensembl	human	putative	69_37n	nonsense	73	33.64	37	SNP	1.000	T
NRG3	10718	genome.wustl.edu	37	10	84745272	84745272	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:84745272C>A	ENST00000404547.1	+	10	2074	c.2074C>A	c.(2074-2076)Ctc>Atc	p.L692I	NRG3_ENST00000556918.1_Missense_Mutation_p.L498I|NRG3_ENST00000372141.2_Missense_Mutation_p.L668I|NRG3_ENST00000545131.1_Missense_Mutation_p.L318I|NRG3_ENST00000404576.2_Missense_Mutation_p.L472I|NRG3_ENST00000537893.1_Missense_Mutation_p.L318I|NRG3_ENST00000372142.2_Missense_Mutation_p.L471I			P56975	NRG3_HUMAN	neuregulin 3	692					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CACAGCCTTTCTCCCCCTGAG	0.488																																						dbGAP											0													79.0	73.0	75.0					10																	84745272		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2074C>A	10.37:g.84745272C>A	ENSP00000384796:p.Leu692Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.L692I	ENST00000404547.1	37	c.2074	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543925	0.65198	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.63255	0.62;0.49;0.54;-0.03;0.55;0.14;0.14	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000024	T	0.75162	0.3812	L	0.50333	1.59	0.47819	D	0.999527	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.77557	0.99;0.99;0.99;0.99	T	0.76873	-0.2798	10	0.87932	D	0	-36.2089	16.9886	0.86347	0.0:1.0:0.0:0.0	.	667;692;471;668	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	668;692;667;471;472;498;318;318	ENSP00000361214:L668I;ENSP00000384796:L692I;ENSP00000361215:L471I;ENSP00000385804:L472I;ENSP00000451376:L498I;ENSP00000441201:L318I;ENSP00000440377:L318I	ENSP00000361214:L668I	L	+	1	0	NRG3	84735252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.274000	0.65569	2.615000	0.88500	0.655000	0.94253	CTC	NRG3	-	NULL	ENSG00000185737		0.488	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	153	0.00	0	C	XM_166086		84745272	84745272	+1	no_errors	ENST00000404547	ensembl	human	known	69_37n	missense	77	28.04	30	SNP	1.000	A
NRG4	145957	genome.wustl.edu	37	15	76301629	76301629	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:76301629C>T	ENST00000394907.3	-	3	197	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	NRG4_ENST00000535975.1_Missense_Mutation_p.E6K|NRG4_ENST00000305435.10_Missense_Mutation_p.E6K	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	6	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						CAGGGCTCTTCGTGATCTAGA	0.383																																						dbGAP											0													71.0	73.0	72.0					15																	76301629		2197	4294	6491	-	-	-	SO:0001583	missense	0			BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.16G>A	15.37:g.76301629C>T	ENSP00000378367:p.Glu6Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIE8	Missense_Mutation	SNP	smart_EGF-like,pfscan_EG-like_dom	p.E6K	ENST00000394907.3	37	c.16	CCDS10288.1	15	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652357	0.88056	.	.	ENSG00000169752	ENST00000394907;ENST00000535975;ENST00000305435	T;T	0.41400	1.0;1.0	5.37	5.37	0.77165	Epidermal growth factor-like, type 3 (1);	0.279394	0.18265	U	0.146509	T	0.57504	0.2058	L	0.42245	1.32	0.38396	D	0.94553	D	0.76494	0.999	D	0.68483	0.958	T	0.61802	-0.6988	10	0.87932	D	0	-9.9085	16.6153	0.84909	0.0:1.0:0.0:0.0	.	6	Q8WWG1	NRG4_HUMAN	K	6	ENSP00000378367:E6K;ENSP00000441129:E6K	ENSP00000303071:E6K	E	-	1	0	NRG4	74088684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.271000	0.58902	2.494000	0.84150	0.650000	0.86243	GAA	NRG4	-	pfscan_EG-like_dom	ENSG00000169752		0.383	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRG4	HGNC	protein_coding	OTTHUMT00000286632.1	308	0.00	0	C	NM_138573		76301629	76301629	-1	no_errors	ENST00000394907	ensembl	human	known	69_37n	missense	178	24.47	58	SNP	1.000	T
NRIP3	56675	genome.wustl.edu	37	11	9005451	9005451	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:9005451A>C	ENST00000309166.3	-	6	794	c.681T>G	c.(679-681)ttT>ttG	p.F227L	NRIP3_ENST00000531090.1_3'UTR	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	227							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CTGTCTCCACAAAAGGGATTT	0.463																																						dbGAP											0													178.0	165.0	169.0					11																	9005451		2201	4296	6497	-	-	-	SO:0001583	missense	0			AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.681T>G	11.37:g.9005451A>C	ENSP00000310205:p.Phe227Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WD9	Missense_Mutation	SNP	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	p.F227L	ENST00000309166.3	37	c.681	CCDS31422.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.162564|5.162564	0.94727|0.94727	.|.	.|.	ENSG00000175352|ENSG00000175352	ENST00000309166;ENST00000531142|ENST00000534759	T|.	0.68331|.	-0.32|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.108708|.	0.64402|.	D|.	0.000005|.	T|T	0.57007|0.57007	0.2024|0.2024	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.58266|.	0.836|.	T|T	0.53995|0.53995	-0.8359|-0.8359	10|5	0.66056|.	D|.	0.02|.	.|.	13.7303|13.7303	0.62783|0.62783	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|.	Q9NQ35|.	NRIP3_HUMAN|.	L|W	227;55|33	ENSP00000310205:F227L|.	ENSP00000310205:F227L|.	F|L	-|-	3|2	2|0	NRIP3|NRIP3	8962027|8962027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.727000|3.727000	0.54984|0.54984	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	TTT|TTG	NRIP3	-	NULL	ENSG00000175352		0.463	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP3	HGNC	protein_coding	OTTHUMT00000385774.1	274	0.00	0	A	NM_020645		9005451	9005451	-1	no_errors	ENST00000309166	ensembl	human	known	69_37n	missense	173	20.64	45	SNP	1.000	C
NRN1	51299	genome.wustl.edu	37	6	6002688	6002688	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:6002688G>A	ENST00000244766.2	-	2	315	c.98C>T	c.(97-99)gCg>gTg	p.A33V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	33					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		CTTGAAGACCGCATCGCACTT	0.647																																						dbGAP											0													130.0	109.0	116.0					6																	6002688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.98C>T	6.37:g.6002688G>A	ENSP00000244766:p.Ala33Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA93|Q7Z4Y1	Missense_Mutation	SNP	NULL	p.A33V	ENST00000244766.2	37	c.98	CCDS4495.1	6	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635305	0.67130	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.299101	0.31859	N	0.006943	T	0.34542	0.0901	L	0.43152	1.355	0.37865	D	0.929849	B	0.26708	0.157	B	0.19148	0.024	T	0.40757	-0.9546	9	0.49607	T	0.09	-8.2405	13.9329	0.64007	0.0:0.0:1.0:0.0	.	33	Q9NPD7	NRN1_HUMAN	V	33	.	ENSP00000244766:A33V	A	-	2	0	NRN1	5947687	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.106000	0.64597	2.185000	0.69588	0.462000	0.41574	GCG	NRN1	-	NULL	ENSG00000124785		0.647	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRN1	HGNC	protein_coding	OTTHUMT00000039753.1	136	0.00	0	G			6002688	6002688	-1	no_errors	ENST00000244766	ensembl	human	known	69_37n	missense	60	28.57	24	SNP	1.000	A
NRXN2	9379	genome.wustl.edu	37	11	64460322	64460322	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:64460322C>T	ENST00000377551.1	-	3	986	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	NRXN2_ENST00000377559.3_Missense_Mutation_p.E259K|NRXN2_ENST00000265459.6_Missense_Mutation_p.E259K|NRXN2_ENST00000409571.1_Missense_Mutation_p.E259K			Q9P2S2	NRX2A_HUMAN	neurexin 2	259					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ACCATACCTTCGCTGTTTAAC	0.458																																						dbGAP											0													125.0	105.0	111.0					11																	64460322		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.775G>A	11.37:g.64460322C>T	ENSP00000366774:p.Glu259Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E259K	ENST00000377551.1	37	c.775	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300908	0.40694	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	T;T;T;T;T	0.78816	0.2;-1.21;0.2;0.31;1.34	4.21	3.21	0.36854	.	.	.	.	.	T	0.54287	0.1849	N	0.03608	-0.345	0.40632	D	0.981868	B;B	0.26120	0.142;0.011	B;B	0.19148	0.024;0.008	T	0.59857	-0.7375	9	0.72032	D	0.01	.	10.1803	0.42963	0.0:0.6511:0.3489:0.0	.	259;259	Q9P2S2-2;Q9P2S2	.;NRX2A_HUMAN	K	259;259;259;259;259;30	ENSP00000366774:E259K;ENSP00000366782:E259K;ENSP00000265459:E259K;ENSP00000386416:E259K;ENSP00000388971:E30K	ENSP00000265459:E259K	E	-	1	0	NRXN2	64216898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.976000	0.63785	2.079000	0.62486	0.542000	0.68232	GAA	NRXN2	-	NULL	ENSG00000110076		0.458	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	1155	0.00	0	C	NM_015080		64460322	64460322	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	816	12.53	117	SNP	1.000	T
NRXN3	9369	genome.wustl.edu	37	14	79117588	79117588	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:79117588C>A	ENST00000554719.1	+	3	512	c.21C>A	c.(19-21)ttC>ttA	p.F7L	NRXN3_ENST00000335750.5_Missense_Mutation_p.F7L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGACGACTTCTTCTATGTAG	0.522																																						dbGAP											0													185.0	170.0	175.0					14																	79117588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.21C>A	14.37:g.79117588C>A	ENSP00000451648:p.Phe7Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.F378L	ENST00000554719.1	37	c.1134	CCDS9870.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.20|17.20	3.329832|3.329832	0.60743|0.60743	.|.	.|.	ENSG00000021645|ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750|ENST00000553363	T;T|.	0.78481|.	-1.18;-1.18|.	6.01|6.01	6.01|6.01	0.97437|0.97437	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77287|0.77287	0.4108|0.4108	.|.	.|.	.|.	0.43988|0.43988	D|D	0.996689|0.996689	D;P|.	0.58620|.	0.983;0.92|.	D;B|.	0.65987|.	0.94;0.37|.	T|T	0.73990|0.73990	-0.3808|-0.3808	8|4	.|.	.|.	.|.	.|.	20.5141|20.5141	0.99211|0.99211	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	380;7|.	Q9Y4C0;Q9Y4C0-3|.	NRX3A_HUMAN;.|.	L|I	380;378;7;7|153	ENSP00000451648:F7L;ENSP00000338349:F7L|.	.|.	F|L	+|+	3|1	2|0	NRXN3|NRXN3	78187341|78187341	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	2.902000|2.902000	0.48703|0.48703	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	TTC|CTT	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	508	0.20	1	C	NM_001105250		79117588	79117588	+1	no_errors	ENST00000554738	ensembl	human	known	69_37n	missense	494	12.72	72	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176638917	176638917	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176638917C>T	ENST00000439151.2	+	5	3562	c.3517C>T	c.(3517-3519)Cgc>Tgc	p.R1173C	NSD1_ENST00000354179.4_Missense_Mutation_p.R904C|NSD1_ENST00000347982.4_Missense_Mutation_p.R904C|NSD1_ENST00000361032.4_Missense_Mutation_p.R1070C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1173					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACCTCGTAAGCGCATGAACAG	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													77.0	72.0	74.0					5																	176638917		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3517C>T	5.37:g.176638917C>T	ENSP00000395929:p.Arg1173Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R1173C	ENST00000439151.2	37	c.3517	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053952	0.75960	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94330	-3.29;-3.31;-3.29;-3.4	4.49	4.49	0.54785	.	0.114681	0.39759	N	0.001269	D	0.93061	0.7791	N	0.24115	0.695	0.44241	D	0.997082	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.967;0.952	D	0.91838	0.5481	9	.	.	.	.	14.3927	0.66991	0.0:1.0:0.0:0.0	.	904;1070;1173	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	904;1173;904;1070	ENSP00000346111:R904C;ENSP00000395929:R1173C;ENSP00000343209:R904C;ENSP00000354310:R1070C	.	R	+	1	0	NSD1	176571523	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.631000	0.61304	2.497000	0.84241	0.655000	0.94253	CGC	NSD1	-	NULL	ENSG00000165671		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	293	0.00	0	C	NM_172349		176638917	176638917	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	missense	191	12.79	28	SNP	1.000	T
NSD1	64324	genome.wustl.edu	37	5	176721023	176721023	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176721023C>T	ENST00000439151.2	+	23	6699	c.6654C>T	c.(6652-6654)atC>atT	p.I2218I	NSD1_ENST00000347982.4_Silent_p.I1949I|NSD1_ENST00000354179.4_Silent_p.I1949I|NSD1_ENST00000361032.4_Silent_p.I2115I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2218	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGGGGAGATCCGTGAGTATG	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													83.0	81.0	82.0					5																	176721023		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6654C>T	5.37:g.176721023C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.I2218	ENST00000439151.2	37	c.6654	CCDS4412.1	5																																																																																			NSD1	-	NULL	ENSG00000165671		0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	134	0.00	0	C	NM_172349		176721023	176721023	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	silent	99	19.51	24	SNP	1.000	T
NSFL1C	55968	genome.wustl.edu	37	20	1435754	1435754	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:1435754C>A	ENST00000216879.4	-	4	1169	c.302G>T	c.(301-303)aGa>aTa	p.R101I	NSFL1C_ENST00000353088.2_Missense_Mutation_p.R101I|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R103I|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R103I	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	101						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTGTCCACTTCTCTCTGAGCC	0.488																																						dbGAP											0													189.0	199.0	196.0					20																	1435754		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.302G>T	20.37:g.1435754C>A	ENSP00000216879:p.Arg101Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX	p.R103I	ENST00000216879.4	37	c.308	CCDS13015.1	20	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753297	0.69648	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000350991	T;T;T;T	0.47528	0.86;0.85;0.84;0.85	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.80422	2.495	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.931;0.991	T	0.72861	-0.4164	10	0.56958	D	0.05	-19.6557	17.2387	0.87007	0.0:1.0:0.0:0.0	.	101;101	Q9UNZ2-4;Q9UNZ2	.;NSF1C_HUMAN	I	101;103;101;103	ENSP00000338643:R101I;ENSP00000418529:R103I;ENSP00000216879:R101I;ENSP00000202584:R103I	ENSP00000216879:R101I	R	-	2	0	NSFL1C	1383754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.601000	0.67606	2.805000	0.96524	0.655000	0.94253	AGA	NSFL1C	-	NULL	ENSG00000088833		0.488	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NSFL1C	HGNC	protein_coding	OTTHUMT00000077525.2	166	0.00	0	C	NM_016143		1435754	1435754	-1	no_errors	ENST00000350991	ensembl	human	known	69_37n	missense	129	15.13	23	SNP	1.000	A
NSMCE2	286053	genome.wustl.edu	37	8	126379330	126379330	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:126379330C>T	ENST00000287437.3	+	0	1163				NSMCE2_ENST00000517315.1_3'UTR|NSMCE2_ENST00000521460.1_3'UTR	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)						cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTTAAGTGTTCTATAATGTTA	0.358																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.*203C>T	8.37:g.126379330C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N549	RNA	SNP	-	NULL	ENST00000287437.3	37	NULL	CCDS6356.1	8																																																																																			NSMCE2	-	-	ENSG00000156831		0.358	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE2	HGNC	protein_coding	OTTHUMT00000381378.1	20	0.00	0	C	NM_173685		126379330	126379330	+1	no_errors	ENST00000521460	ensembl	human	known	69_37n	rna	14	22.22	4	SNP	0.000	T
NSUN2	54888	genome.wustl.edu	37	5	6620376	6620376	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:6620376G>A	ENST00000264670.6	-	7	969	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Missense_Mutation_p.R185C	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	220					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGGTAGCAGCGCTTGTTGTCC	0.502																																						dbGAP											0													98.0	97.0	97.0					5																	6620376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.658C>T	5.37:g.6620376G>A	ENSP00000264670:p.Arg220Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1	p.R220C	ENST00000264670.6	37	c.658	CCDS3869.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997877	0.93227	.	.	ENSG00000037474	ENST00000264670;ENST00000506139	T;T	0.71698	-0.59;-0.59	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94745	0.7922	10	0.87932	D	0	-32.3743	14.975	0.71264	0.0684:0.0:0.9316:0.0	.	185;220	B4DQW2;Q08J23	.;NSUN2_HUMAN	C	220;185	ENSP00000264670:R220C;ENSP00000420957:R185C	ENSP00000264670:R220C	R	-	1	0	NSUN2	6673376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.285000	0.95894	1.464000	0.47987	0.655000	0.94253	CGC	NSUN2	-	pfam_Fmu/NOL1/Nop2p	ENSG00000037474		0.502	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSUN2	HGNC	protein_coding	OTTHUMT00000206902.1	74	0.00	0	G	NM_017755		6620376	6620376	-1	no_errors	ENST00000264670	ensembl	human	known	69_37n	missense	68	16.05	13	SNP	1.000	A
NSUN6	221078	genome.wustl.edu	37	10	18903417	18903417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:18903417C>A	ENST00000377304.4	-	5	965	c.547G>T	c.(547-549)Gaa>Taa	p.E183*		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	183	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						CTGAAGATTTCTTTGCGGCTT	0.338																																						dbGAP											0													86.0	82.0	83.0					10																	18903417		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.547G>T	10.37:g.18903417C>A	ENSP00000366519:p.Glu183*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ54	Nonsense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,prints_RCMT,pfscan_PUA	p.E183*	ENST00000377304.4	37	c.547	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.341861	0.97489	.	.	ENSG00000241058	ENST00000377304	.	.	.	5.09	5.09	0.68999	.	0.402999	0.30850	N	0.008749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	18.8583	0.92262	0.0:1.0:0.0:0.0	.	.	.	.	X	183	.	ENSP00000366519:E183X	E	-	1	0	NSUN6	18943423	1.000000	0.71417	0.745000	0.31077	0.158000	0.22134	6.177000	0.71961	2.523000	0.85059	0.655000	0.94253	GAA	NSUN6	-	pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA	ENSG00000241058		0.338	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	356	0.00	0	C	NM_182543		18903417	18903417	-1	no_errors	ENST00000377304	ensembl	human	known	69_37n	nonsense	278	13.35	43	SNP	0.997	A
NT5C2	22978	genome.wustl.edu	37	10	104866380	104866380	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:104866380G>A	ENST00000404739.3	-	3	282	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	NT5C2_ENST00000423468.2_Missense_Mutation_p.L58F|NT5C2_ENST00000343289.5_Missense_Mutation_p.L87F|NT5C2_ENST00000369857.4_Intron			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	87					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GCAAAGCTGAGCAACTCCTGG	0.398																																						dbGAP											0													130.0	131.0	131.0					10																	104866380		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.259C>T	10.37:g.104866380G>A	ENSP00000383960:p.Leu87Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.L87F	ENST00000404739.3	37	c.259	CCDS7544.1	10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765831	0.90020	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.6	4.7	0.59300	HAD-like domain (1);	0.116326	0.64402	D	0.000012	T	0.56746	0.2006	M	0.88979	2.995	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.76575	0.973;0.988	T	0.65483	-0.6157	10	0.59425	D	0.04	-8.2738	14.3399	0.66619	0.071:0.0:0.929:0.0	.	58;87	B7Z382;P49902	.;5NTC_HUMAN	F	87;87;58;87;10;35	ENSP00000339479:L87F;ENSP00000383960:L87F;ENSP00000392236:L58F;ENSP00000396468:L87F;ENSP00000411330:L10F	ENSP00000339479:L87F	L	-	1	0	NT5C2	104856370	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.004000	0.88535	1.364000	0.46038	0.650000	0.86243	CTC	NT5C2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000076685		0.398	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	246	0.00	0	G	NM_012229		104866380	104866380	-1	no_errors	ENST00000343289	ensembl	human	known	69_37n	missense	166	14.36	28	SNP	1.000	A
NT5DC2	64943	genome.wustl.edu	37	3	52561686	52561686	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:52561686G>A	ENST00000307076.4	-	9	1273	c.873C>T	c.(871-873)ttC>ttT	p.F291F	NT5DC2_ENST00000307092.4_Silent_p.F232F|NT5DC2_ENST00000459839.1_Silent_p.F303F|NT5DC2_ENST00000422318.2_Silent_p.F328F|NT5DC2_ENST00000490681.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	291							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TGACCACATCGAAGAGCTGGC	0.612																																						dbGAP											0													82.0	65.0	71.0					3																	52561686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.873C>T	3.37:g.52561686G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Nonsense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	p.R213*	ENST00000307076.4	37	c.637	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622211	0.14193	.	.	ENSG00000168268	ENST00000489316	.	.	.	4.64	-9.28	0.00656	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.715	14.4159	0.67151	0.1999:0.1058:0.6943:0.0	.	.	.	.	X	213	.	.	R	-	1	2	NT5DC2	52536726	0.007000	0.16637	0.295000	0.24960	0.894000	0.52154	-0.695000	0.05109	-2.328000	0.00635	-0.683000	0.03753	CGA	NT5DC2	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom	ENSG00000168268		0.612	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	28	0.00	0	G	NM_022908		52561686	52561686	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000489316	ensembl	human	novel	69_37n	nonsense	18	21.74	5	SNP	0.685	A
NTMT1	28989	genome.wustl.edu	37	9	132395102	132395102	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:132395102C>T	ENST00000372486.1	+	2	469	c.120C>T	c.(118-120)atC>atT	p.I40I	NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000372481.3_Silent_p.I40I|NTMT1_ENST00000372480.1_Silent_p.I40I|NTMT1_ENST00000459968.2_Silent_p.I40I|NTMT1_ENST00000372483.4_Silent_p.I40I			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	40					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										TCTCCAGCATCGACATCAACA	0.562																																						dbGAP											0													159.0	139.0	146.0					9																	132395102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.120C>T	9.37:g.132395102C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Silent	SNP	pfam_DUF858_MeTrfase_lik,pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_O_MeTrfase_2,pirsf_DUF858_MeTrfase_lik	p.I40	ENST00000372486.1	37	c.120	CCDS35160.1	9																																																																																			NTMT1	-	pfam_DUF858_MeTrfase_lik,pirsf_DUF858_MeTrfase_lik	ENSG00000148335		0.562	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	112	0.00	0	C	NM_014064		132395102	132395102	+1	no_errors	ENST00000372480	ensembl	human	known	69_37n	silent	61	12.86	9	SNP	1.000	T
NTSR2	23620	genome.wustl.edu	37	2	11800246	11800246	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:11800246G>T	ENST00000306928.5	-	3	946	c.912C>A	c.(910-912)gtC>gtA	p.V304V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	304					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGACATACATGACCACGATGG	0.552																																						dbGAP											0													94.0	80.0	85.0					2																	11800246		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.912C>A	2.37:g.11800246G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_NT2_rcpt,prints_NT_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V304	ENST00000306928.5	37	c.912	CCDS1681.1	2																																																																																			NTSR2	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169006		0.552	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	HGNC	protein_coding	OTTHUMT00000239297.1	76	0.00	0	G			11800246	11800246	-1	no_errors	ENST00000306928	ensembl	human	known	69_37n	silent	57	15.94	11	SNP	0.214	T
NUAK1	9891	genome.wustl.edu	37	12	106461162	106461162	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:106461162C>A	ENST00000261402.2	-	7	2783	c.1404G>T	c.(1402-1404)ttG>ttT	p.L468F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	468					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGGTCTTTTTCAAGATGCCTT	0.562																																						dbGAP											0													64.0	63.0	64.0					12																	106461162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1404G>T	12.37:g.106461162C>A	ENSP00000261402:p.Leu468Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L468F	ENST00000261402.2	37	c.1404	CCDS31892.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.59|17.59	3.427899|3.427899	0.62733|0.62733	.|.	.|.	ENSG00000074590|ENSG00000074590	ENST00000359413|ENST00000261402	.|D	.|0.83992	.|-1.79	5.38|5.38	1.46|1.46	0.22682|0.22682	.|.	.|0.156835	.|0.27447	.|N	.|0.019321	.|D	.|0.86883	.|0.6040	M|M	0.75615|0.75615	2.305|2.305	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.82526	.|-0.0413	.|10	.|0.33141	.|T	.|0.24	.|.	4.4064|4.4064	0.11411|0.11411	0.0:0.3661:0.3172:0.3167|0.0:0.3661:0.3172:0.3167	.|.	.|468	.|O60285	.|NUAK1_HUMAN	.|F	-1|468	.|ENSP00000261402:L468F	.|ENSP00000261402:L468F	.|L	-|-	.|3	.|2	NUAK1|NUAK1	104985292|104985292	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.226000|0.226000	0.17776|0.17776	0.636000|0.636000	0.30508|0.30508	0.491000|0.491000	0.48974|0.48974	.|TTG	NUAK1	-	NULL	ENSG00000074590		0.562	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	148	0.00	0	C	NM_014840		106461162	106461162	-1	no_errors	ENST00000261402	ensembl	human	known	69_37n	missense	90	12.62	13	SNP	1.000	A
NUCB2	4925	genome.wustl.edu	37	11	17331216	17331216	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:17331216C>A	ENST00000529010.1	+	6	696	c.477C>A	c.(475-477)atC>atA	p.I159I	NUCB2_ENST00000458064.2_Silent_p.I159I|NUCB2_ENST00000323688.6_Silent_p.I159I	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	159						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ATATGCTAATCAAAGCGGTGA	0.338																																						dbGAP											0													116.0	107.0	110.0					11																	17331216		1797	4074	5871	-	-	-	SO:0001819	synonymous_variant	0			AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.477C>A	11.37:g.17331216C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K642|D3DQX5|Q8NFT5	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I159	ENST00000529010.1	37	c.477	CCDS41623.1	11																																																																																			NUCB2	-	NULL	ENSG00000070081		0.338	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUCB2	HGNC	protein_coding	OTTHUMT00000387614.2	261	0.00	0	C	NM_005013		17331216	17331216	+1	no_errors	ENST00000323688	ensembl	human	known	69_37n	silent	178	14.42	30	SNP	1.000	A
NUDCD2	134492	genome.wustl.edu	37	5	162884608	162884608	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:162884608G>T	ENST00000302764.4	-	2	287	c.198C>A	c.(196-198)ctC>ctA	p.L66L	HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000519395.1_5'UTR|HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.L66L	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	66	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TAGAATCAAAGAGTTTGCCCT	0.284																																						dbGAP											0													76.0	87.0	83.0					5																	162884608		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.198C>A	5.37:g.162884608G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4V0	Silent	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.L66	ENST00000302764.4	37	c.198	CCDS4361.1	5																																																																																			NUDCD2	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000170584		0.284	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	HGNC	protein_coding	OTTHUMT00000252747.3	151	0.00	0	G	NM_145266		162884608	162884608	-1	no_errors	ENST00000302764	ensembl	human	known	69_37n	silent	75	28.57	30	SNP	1.000	T
NUDT1	4521	genome.wustl.edu	37	7	2284290	2284290	+	Silent	SNP	C	C	T	rs202192164		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:2284290C>T	ENST00000397046.1	+	3	178	c.81C>T	c.(79-81)ttC>ttT	p.F27F	NUDT1_ENST00000356714.1_Silent_p.F27F|NUDT1_ENST00000339737.2_Silent_p.F27F|FTSJ2_ENST00000242257.8_5'Flank|NUDT1_ENST00000343985.4_Silent_p.F50F|FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000397048.1_Silent_p.F50F|NUDT1_ENST00000397049.1_Silent_p.F50F	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	68					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		AGCGAGGCTTCGGGGCCGGCC	0.607								Modulation of nucleotide pools																														dbGAP											0													38.0	40.0	39.0					7																	2284290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	8048	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.81C>T	7.37:g.2284290C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase	p.F50	ENST00000397046.1	37	c.150	CCDS5330.1	7																																																																																			NUDT1	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase	ENSG00000106268		0.607	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT1	HGNC	protein_coding	OTTHUMT00000206922.1	62	0.00	0	C	NM_002452		2284290	2284290	+1	no_errors	ENST00000343985	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	0.882	T
NUDT11	55190	genome.wustl.edu	37	X	51238931	51238931	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:51238931G>A	ENST00000375992.3	-	1	517	c.366C>T	c.(364-366)gtC>gtT	p.V122V		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	122	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TGGCATCTTCGACTTTGAACC	0.527										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	dbGAP											0													60.0	54.0	56.0					X																	51238931		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.366C>T	X.37:g.51238931G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVN0	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.V122	ENST00000375992.3	37	c.366	CCDS43952.1	X																																																																																			NUDT11	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000196368		0.527	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT11	HGNC	protein_coding	OTTHUMT00000056579.1	186	0.00	0	G			51238931	51238931	-1	no_errors	ENST00000375992	ensembl	human	known	69_37n	silent	78	11.36	10	SNP	0.686	A
NUDT17	200035	genome.wustl.edu	37	1	145587439	145587439	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:145587439A>C	ENST00000334513.5	-	6	652	c.641T>G	c.(640-642)cTg>cGg	p.L214R	NUDT17_ENST00000444015.2_5'UTR	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	214	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCTGGTGTCAGCCACATAAG	0.592																																						dbGAP											0													105.0	105.0	105.0					1																	145587439		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.641T>G	1.37:g.145587439A>C	ENSP00000334437:p.Leu214Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L214R	ENST00000334513.5	37	c.641	CCDS30830.1	1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598233	0.66332	.	.	ENSG00000186364	ENST00000334513	T	0.09817	2.94	5.06	5.06	0.68205	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.248873	0.34133	N	0.004223	T	0.26448	0.0646	M	0.83223	2.63	0.46927	D	0.999253	D	0.89917	1.0	D	0.91635	0.999	T	0.04427	-1.0952	10	0.87932	D	0	-10.8141	12.8061	0.57614	1.0:0.0:0.0:0.0	.	214	P0C025	NUD17_HUMAN	R	214	ENSP00000334437:L214R	ENSP00000334437:L214R	L	-	2	0	NUDT17	144298796	1.000000	0.71417	0.994000	0.49952	0.546000	0.35178	4.807000	0.62576	2.119000	0.64992	0.533000	0.62120	CTG	NUDT17	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000186364		0.592	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT17	HGNC	protein_coding	OTTHUMT00000038541.3	196	0.00	0	A	XM_496395		145587439	145587439	-1	no_errors	ENST00000334513	ensembl	human	known	69_37n	missense	81	30.17	35	SNP	0.996	C
NUDT3	11165	genome.wustl.edu	37	6	34256664	34256664	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:34256664G>A	ENST00000607016.1	-	5	696	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	RP11-513I15.6_ENST00000429998.2_lincRNA|RPS10-NUDT3_ENST00000605528.1_Silent_p.L248L	NM_006703.3	NP_006694.1	O95989	NUDT3_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 3	129	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cell-cell signaling (GO:0007267)|diadenosine polyphosphate catabolic process (GO:0015961)|diphosphoinositol polyphosphate catabolic process (GO:0071544)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|magnesium ion binding (GO:0000287)			lung(2)	2						TGATACTGCAGCACTTTTATG	0.458																																					GBM(96;1206 1939 18658 39482)	dbGAP											0													177.0	149.0	159.0					6																	34256664		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF062530	CCDS4791.1	6p21.2	2014-07-16			ENSG00000272325	ENSG00000272325		"""Nudix motif containing"""	8050	protein-coding gene	gene with protein product		609228				9822604	Standard	NM_006703		Approved	DIPP		O95989	OTTHUMG00000014545	ENST00000607016.1:c.385C>T	6.37:g.34256664G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8N4	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L129	ENST00000607016.1	37	c.385	CCDS4791.1	6																																																																																			NUDT3	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000112664		0.458	NUDT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT3	HGNC	protein_coding	OTTHUMT00000040224.2	533	0.00	0	G			34256664	34256664	-1	no_errors	ENST00000358797	ensembl	human	known	69_37n	silent	356	14.42	60	SNP	1.000	A
NUDT5	11164	genome.wustl.edu	37	10	12214822	12214822	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:12214822G>A	ENST00000491614.1	-	7	824	c.429C>T	c.(427-429)atC>atT	p.I143I	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000537776.1_Silent_p.I143I|NUDT5_ENST00000378927.3_Silent_p.I143I|NUDT5_ENST00000378940.3_Silent_p.I143I|NUDT5_ENST00000378937.3_Silent_p.I156I			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	143	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TGACTGTCACGATGTGTATAG	0.502																																						dbGAP											0													274.0	184.0	215.0					10																	12214822		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.429C>T	10.37:g.12214822G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K516|Q6IAG0|Q9UH49	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	p.R100C	ENST00000491614.1	37	c.298	CCDS7089.1	10																																																																																			NUDT5	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000165609		0.502	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT5	HGNC	protein_coding	OTTHUMT00000046811.1	286	0.00	0	G			12214822	12214822	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000476462	ensembl	human	known	69_37n	missense	195	28.83	79	SNP	0.397	A
NUDT7	283927	genome.wustl.edu	37	16	77775776	77775776	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:77775776C>A	ENST00000268533.5	+	4	715	c.646C>A	c.(646-648)Ctt>Att	p.L216I	NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.L163I|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	216					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)	p.L216I(1)		breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TCAATTTAATCTTAATGATGT	0.378																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											63.0	58.0	60.0					16																	77775776		1821	4087	5908	-	-	-	SO:0001583	missense	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.646C>A	16.37:g.77775776C>A	ENSP00000268533:p.Leu216Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L216I	ENST00000268533.5	37	c.646	CCDS42195.1	16	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843377	0.51057	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.51325	1.34;0.71	5.4	3.34	0.38264	.	0.311183	0.30879	N	0.008690	T	0.64638	0.2616	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.93	T	0.67515	-0.5651	10	0.62326	D	0.03	-22.4837	10.6198	0.45474	0.0:0.7868:0.1354:0.0777	.	163;216	B4DLE5;P0C024	.;NUDT7_HUMAN	I	216;163	ENSP00000268533:L216I;ENSP00000387707:L163I	ENSP00000268533:L216I	L	+	1	0	NUDT7	76333277	0.996000	0.38824	0.588000	0.28705	0.364000	0.29643	0.497000	0.22514	2.526000	0.85167	0.561000	0.74099	CTT	NUDT7	-	NULL	ENSG00000140876		0.378	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1	126	0.00	0	C			77775776	77775776	+1	no_errors	ENST00000268533	ensembl	human	known	69_37n	missense	43	34.85	23	SNP	0.869	A
NUMA1	4926	genome.wustl.edu	37	11	71725932	71725932	+	Missense_Mutation	SNP	C	C	T	rs1053601		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:71725932C>T	ENST00000393695.3	-	15	2948	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.E873K|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.E873K(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGCTAGTTCGTTCTGCTGC	0.587			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Substitution - Missense(1)	large_intestine(1)											120.0	107.0	111.0					11																	71725932		2200	4293	6493	-	-	-	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2617G>A	11.37:g.71725932C>T	ENSP00000377298:p.Glu873Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_Prefoldin	p.E873K	ENST00000393695.3	37	c.2617	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503778	0.44558	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652	T;T	0.12465	2.68;2.68	5.69	3.77	0.43336	.	0.105386	0.42053	D	0.000765	T	0.08935	0.0221	L	0.33485	1.01	0.09310	N	1	B;B;B;B	0.32968	0.116;0.392;0.116;0.116	B;B;B;B	0.23716	0.014;0.048;0.035;0.019	T	0.25882	-1.0119	9	.	.	.	.	9.8198	0.40876	0.0:0.6593:0.2684:0.0723	rs1053601	879;357;873;873	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	873;873;436	ENSP00000351851:E873K;ENSP00000377298:E873K	.	E	-	1	0	NUMA1	71403580	0.002000	0.14202	0.054000	0.19295	0.454000	0.32378	0.684000	0.25364	1.371000	0.46172	0.655000	0.94253	GAA	NUMA1	-	NULL	ENSG00000137497		0.587	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	58	0.00	0	C			71725932	71725932	-1	no_errors	ENST00000393695	ensembl	human	known	69_37n	missense	34	27.66	13	SNP	0.023	T
NUMB	8650	genome.wustl.edu	37	14	73749116	73749116	+	Silent	SNP	C	C	T	rs544763735		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:73749116C>T	ENST00000355058.3	-	11	1325	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	NUMB_ENST00000359560.3_Silent_p.P338P|NUMB_ENST00000555394.1_Silent_p.P349P|NUMB_ENST00000557597.1_Silent_p.P338P|NUMB_ENST00000560335.1_Silent_p.P251P|NUMB_ENST00000554546.1_Silent_p.P338P|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000556772.1_Silent_p.P205P|NUMB_ENST00000356296.4_Silent_p.P349P|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555738.2_Silent_p.P240P|NUMB_ENST00000454166.4_Silent_p.P251P|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000555238.1_Silent_p.P349P|NUMB_ENST00000535282.1_Silent_p.P338P			P49757	NUMB_HUMAN	numb homolog (Drosophila)	349					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GTTTGGTCATCGGAGCAGATG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20671	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													180.0	147.0	158.0					14																	73749116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1047G>A	14.37:g.73749116C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Silent	SNP	pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom	p.P349	ENST00000355058.3	37	c.1047	CCDS32116.1	14																																																																																			NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.532	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	289	0.00	0	C			73749116	73749116	-1	no_errors	ENST00000355058	ensembl	human	known	69_37n	silent	220	14.73	38	SNP	0.375	T
NUP107	57122	genome.wustl.edu	37	12	69114911	69114911	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:69114911G>T	ENST00000229179.4	+	15	1597	c.1265G>T	c.(1264-1266)aGa>aTa	p.R422I	NUP107_ENST00000378905.2_Missense_Mutation_p.R271I|NUP107_ENST00000539906.1_Missense_Mutation_p.R393I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	422					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTTTTAATAGATACGAGAGA	0.279																																						dbGAP											0													80.0	85.0	83.0					12																	69114911		2203	4290	6493	-	-	-	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1265G>T	12.37:g.69114911G>T	ENSP00000229179:p.Arg422Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.R422I	ENST00000229179.4	37	c.1265	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188469	0.21954	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.47	-0.891	0.10573	.	0.292652	0.41294	D	0.000903	T	0.37999	0.1024	N	0.19112	0.55	0.51482	D	0.999928	B;B;B	0.20368	0.039;0.001;0.044	B;B;B	0.30179	0.079;0.012;0.112	T	0.06607	-1.0817	8	.	.	.	-7.3737	10.0409	0.42158	0.5269:0.0:0.4731:0.0	.	393;271;422	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	I	422;271;393	.	.	R	+	2	0	NUP107	67401178	0.999000	0.42202	0.495000	0.27527	0.577000	0.36160	0.471000	0.22100	-0.386000	0.07821	-0.237000	0.12165	AGA	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.279	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	149	0.00	0	G	NM_020401		69114911	69114911	+1	no_errors	ENST00000229179	ensembl	human	known	69_37n	missense	160	10.61	19	SNP	0.912	T
NUP107	57122	genome.wustl.edu	37	12	69128604	69128604	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:69128604G>T	ENST00000229179.4	+	25	2711	c.2379G>T	c.(2377-2379)aaG>aaT	p.K793N	NUP107_ENST00000401003.3_Intron|NUP107_ENST00000378905.2_Missense_Mutation_p.K554N|NUP107_ENST00000539906.1_Missense_Mutation_p.K764N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	793					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAAAGAAAAGAAATATGAAG	0.328																																						dbGAP											0													75.0	76.0	76.0					12																	69128604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2379G>T	12.37:g.69128604G>T	ENSP00000229179:p.Lys793Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.K793N	ENST00000229179.4	37	c.2379	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	G	8.770	0.925664	0.18056	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.48	5.48	0.80851	.	0.146884	0.64402	D	0.000009	T	0.42381	0.1200	L	0.45698	1.435	0.24644	N	0.993555	B;P;B	0.52463	0.16;0.953;0.16	B;P;B	0.48166	0.102;0.569;0.102	T	0.40021	-0.9585	8	.	.	.	-14.9005	11.2058	0.48769	0.1419:0.0:0.8581:0.0	.	764;554;793	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	N	793;554;764	.	.	K	+	3	2	NUP107	67414871	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	2.375000	0.44283	2.758000	0.94735	0.563000	0.77884	AAG	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.328	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	142	0.00	0	G	NM_020401		69128604	69128604	+1	no_errors	ENST00000229179	ensembl	human	known	69_37n	missense	119	13.77	19	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17637557	17637557	+	Missense_Mutation	SNP	G	G	A	rs568893774		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:17637557G>A	ENST00000262077.2	-	16	2290	c.2291C>T	c.(2290-2292)tCg>tTg	p.S764L	NUP153_ENST00000537253.1_Missense_Mutation_p.S795L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	764					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGCACTTTCCGAAACCACTGT	0.433																																						dbGAP											0													142.0	137.0	139.0					6																	17637557		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2291C>T	6.37:g.17637557G>A	ENSP00000262077:p.Ser764Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.S795L	ENST00000262077.2	37	c.2384	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446550	0.25987	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08634	3.07;3.07	5.81	5.81	0.92471	.	0.160638	0.29558	N	0.011817	T	0.04952	0.0133	M	0.62723	1.935	0.44155	D	0.996953	P;P;B	0.47604	0.521;0.898;0.133	B;B;B	0.34038	0.062;0.174;0.01	T	0.32052	-0.9921	10	0.40728	T	0.16	-9.5028	15.1888	0.73025	0.0:0.0:0.8591:0.1409	.	795;744;764	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	764;744;795	ENSP00000262077:S764L;ENSP00000444029:S795L	ENSP00000262077:S764L	S	-	2	0	NUP153	17745536	1.000000	0.71417	0.098000	0.21074	0.136000	0.21042	4.901000	0.63259	2.906000	0.99361	0.655000	0.94253	TCG	NUP153	-	NULL	ENSG00000124789		0.433	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	293	0.00	0	G			17637557	17637557	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	missense	195	28.93	81	SNP	0.840	A
NUP205	23165	genome.wustl.edu	37	7	135261103	135261103	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:135261103G>A	ENST00000285968.6	+	4	455	c.429G>A	c.(427-429)gcG>gcA	p.A143A	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	143					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GATGCATTGCGAATTCCTTGA	0.428																																						dbGAP											0													163.0	155.0	158.0					7																	135261103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.429G>A	7.37:g.135261103G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.A143	ENST00000285968.6	37	c.429	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414	ENSG00000155561		0.428	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	443	0.00	0	G			135261103	135261103	+1	no_errors	ENST00000285968	ensembl	human	known	69_37n	silent	251	24.40	81	SNP	0.624	A
NUP210L	91181	genome.wustl.edu	37	1	153965403	153965404	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153965403_153965404insA	ENST00000368559.3	-	40	5645_5646	c.5574_5575insT	c.(5572-5577)tttaacfs	p.N1859fs	NUP210L_ENST00000368553.1_Frame_Shift_Ins_p.N640fs|NUP210L_ENST00000271854.3_Frame_Shift_Ins_p.N1707fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1859				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). {ECO:0000305}.	Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTGTGGAGTTAAAAAAACCTA	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5575dupT	1.37:g.153965410_153965410dupA	ENSP00000357547:p.Asn1859fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Frame_Shift_Ins	INS	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.N1858fs	ENST00000368559.3	37	c.5575_5574	CCDS41399.1	1																																																																																			NUP210L	-	NULL	ENSG00000143552		0.436	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	153	0.00	0	-	NM_207308		153965403	153965404	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	frame_shift_ins	92	10.68	11	INS	0.000:0.000	A
NUP210L	91181	genome.wustl.edu	37	1	153994646	153994646	+	Missense_Mutation	SNP	A	A	G	rs540132385		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153994646A>G	ENST00000368559.3	-	32	4543	c.4472T>C	c.(4471-4473)gTt>gCt	p.V1491A	NUP210L_ENST00000368553.1_Missense_Mutation_p.V424A|NUP210L_ENST00000271854.3_Missense_Mutation_p.V1491A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1491			V -> I (in dbSNP:rs11264875).		Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATATCTCCAACAAAGGTAAG	0.448																																						dbGAP											0													132.0	132.0	132.0					1																	153994646		2033	4183	6216	-	-	-	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4472T>C	1.37:g.153994646A>G	ENSP00000357547:p.Val1491Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.V1491A	ENST00000368559.3	37	c.4472	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452137	0.63290	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.32753	3.06;1.44;2.82	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000016	T	0.21227	0.0511	M	0.72353	2.195	0.44188	D	0.997	P;P	0.52463	0.953;0.953	B;B	0.41946	0.371;0.371	T	0.09596	-1.0667	10	0.42905	T	0.14	-13.2334	10.0435	0.42173	0.9242:0.0:0.0758:0.0	.	1491;1491	E7EP56;Q5VU65	.;P210L_HUMAN	A	1491;424;1491	ENSP00000357547:V1491A;ENSP00000357541:V424A;ENSP00000271854:V1491A	ENSP00000271854:V1491A	V	-	2	0	NUP210L	152261270	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.501000	0.66950	2.333000	0.79357	0.482000	0.46254	GTT	NUP210L	-	NULL	ENSG00000143552		0.448	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	105	0.00	0	A	NM_207308		153994646	153994646	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	missense	91	22.88	27	SNP	0.997	G
NUP210L	91181	genome.wustl.edu	37	1	154112300	154112300	+	Missense_Mutation	SNP	C	C	T	rs182423356		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154112300C>T	ENST00000368559.3	-	5	766	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R232Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	232					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTCATGAATTCGAACTTTTAC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		16331	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													251.0	248.0	249.0					1																	154112300		1844	4093	5937	-	-	-	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.695G>A	1.37:g.154112300C>T	ENSP00000357547:p.Arg232Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.R232Q	ENST00000368559.3	37	c.695	CCDS41399.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.48	2.846217	0.51164	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.07688	3.41;3.17	5.11	4.2	0.49525	.	0.000000	0.48767	D	0.000165	T	0.04048	0.0113	M	0.69823	2.125	0.27275	N	0.958266	B;B	0.27286	0.09;0.174	B;B	0.15052	0.009;0.012	T	0.21381	-1.0247	10	0.37606	T	0.19	-7.6904	11.1056	0.48201	0.0:0.9133:0.0:0.0867	.	232;232	E7EP56;Q5VU65	.;P210L_HUMAN	Q	232	ENSP00000357547:R232Q;ENSP00000271854:R232Q	ENSP00000271854:R232Q	R	-	2	0	NUP210L	152378924	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.013000	0.40942	1.386000	0.46466	-0.254000	0.11334	CGA	NUP210L	-	NULL	ENSG00000143552		0.368	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	341	0.00	0	C	NM_207308		154112300	154112300	-1	no_errors	ENST00000368559	ensembl	human	known	69_37n	missense	291	11.21	37	SNP	1.000	T
NUP214	8021	genome.wustl.edu	37	9	134014704	134014704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:134014704C>T	ENST00000359428.5	+	10	1186	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Nonsense_Mutation_p.R348*|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R348*|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	348	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGATTCTAGTCGAGCTGAATT	0.373			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													97.0	87.0	90.0					9																	134014704		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1042C>T	9.37:g.134014704C>T	ENSP00000352400:p.Arg348*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Nonsense_Mutation	SNP	smart_WD40_repeat	p.R348*	ENST00000359428.5	37	c.1042	CCDS6940.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.004862|6.004862	0.97195|0.97195	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375|ENST00000530863	.|D	.|0.95137	.|-3.62	5.68|5.68	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.33144|.	N|.	0.005230|.	.|D	.|0.95284	.|0.8470	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.95878	.|0.8896	.|5	0.02654|0.42905	T|T	1|0.14	-19.9309|-19.9309	13.3665|13.3665	0.60687|0.60687	0.3016:0.6984:0.0:0.0|0.3016:0.6984:0.0:0.0	.|.	.|.	.|.	.|.	X|L	348|19	.|ENSP00000434223:S19L	ENSP00000352400:R348X|ENSP00000434223:S19L	R|S	+|+	1|2	2|0	NUP214|NUP214	133004525|133004525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	1.637000|1.637000	0.37155|0.37155	1.355000|1.355000	0.45865|0.45865	0.637000|0.637000	0.83480|0.83480	CGA|TCG	NUP214	-	NULL	ENSG00000126883		0.373	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	261	0.00	0	C	NM_005085		134014704	134014704	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	nonsense	184	18.58	42	SNP	1.000	T
NUP98	4928	genome.wustl.edu	37	11	3784230	3784230	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:3784230G>T	ENST00000324932.7	-	9	1408	c.988C>A	c.(988-990)Ctt>Att	p.L330I	NUP98_ENST00000397004.4_Missense_Mutation_p.L330I|NUP98_ENST00000355260.3_Missense_Mutation_p.L330I|NUP98_ENST00000359171.4_Missense_Mutation_p.L330I|NUP98_ENST00000397007.4_Missense_Mutation_p.L330I	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	330	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCCCAAAAAGACCTCCAGGC	0.443			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													129.0	128.0	128.0					11																	3784230		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.988C>A	11.37:g.3784230G>T	ENSP00000316032:p.Leu330Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.L330I	ENST00000324932.7	37	c.988	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657107	0.88154	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	M	0.79343	2.45	0.53005	D	0.999961	D;D;D;D	0.76494	0.996;0.996;0.999;0.999	D;D;D;D	0.87578	0.986;0.986;0.997;0.998	T	0.81486	-0.0911	9	0.42905	T	0.14	.	19.0968	0.93255	0.0:0.0:1.0:0.0	.	330;330;330;330	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	I	330	.	ENSP00000316032:L330I	L	-	1	0	NUP98	3740806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.313000	0.51935	2.756000	0.94617	0.563000	0.77884	CTT	NUP98	-	NULL	ENSG00000110713		0.443	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	330	0.00	0	G	NM_016320		3784230	3784230	-1	no_errors	ENST00000324932	ensembl	human	known	69_37n	missense	221	14.34	37	SNP	1.000	T
NXF3	56000	genome.wustl.edu	37	X	102334988	102334988	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:102334988G>T	ENST00000395065.3	-	12	1106	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L	NXF3_ENST00000425644.1_Intron	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	335					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGATCCAAAGAAGCTTCCCT	0.502																																						dbGAP											0													174.0	171.0	172.0					X																	102334988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1005C>A	X.37:g.102334988G>T	ENSP00000378504:p.Phe335Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.F335L	ENST00000395065.3	37	c.1005	CCDS14503.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.38|11.38	1.620796|1.620796	0.28889|0.28889	.|.	.|.	ENSG00000147206|ENSG00000147206	ENST00000395065|ENST00000427570	T|.	0.75589|.	-0.95|.	4.44|4.44	-2.58|-2.58	0.06228|0.06228	.|.	0.377636|.	0.31648|.	N|.	0.007294|.	T|T	0.38904|0.38904	0.1058|0.1058	L|L	0.58810|0.58810	1.83|1.83	0.09310|0.09310	N|N	1|1	P;P|.	0.39404|.	0.584;0.672|.	B;B|.	0.32677|.	0.126;0.15|.	T|T	0.38929|0.38929	-0.9638|-0.9638	10|5	0.51188|.	T|.	0.08|.	-0.8285|-0.8285	5.6761|5.6761	0.17749|0.17749	0.5279:0.1431:0.3289:0.0|0.5279:0.1431:0.3289:0.0	.|.	231;335|.	E9PEY7;Q9H4D5|.	.;NXF3_HUMAN|.	L|I	335|212	ENSP00000378504:F335L|.	ENSP00000378504:F335L|.	F|L	-|-	3|1	2|0	NXF3|NXF3	102221644|102221644	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.851000|0.851000	0.27751|0.27751	-0.938000|-0.938000	0.03714|0.03714	-0.191000|-0.191000	0.12829|0.12829	TTC|CTT	NXF3	-	NULL	ENSG00000147206		0.502	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	245	0.00	0	G	NM_022052		102334988	102334988	-1	no_errors	ENST00000395065	ensembl	human	known	69_37n	missense	294	10.64	35	SNP	0.000	T
NXN	64359	genome.wustl.edu	37	17	726884	726884	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:726884G>T	ENST00000336868.3	-	3	691	c.600C>A	c.(598-600)ttC>ttA	p.F200L	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000538650.1_5'Flank|NXN_ENST00000577098.1_5'Flank|NXN_ENST00000575801.1_Missense_Mutation_p.F92L	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	200	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.F200L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AATGTGCGGAGAAATAGACGC	0.572																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											53.0	50.0	51.0					17																	726884		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.600C>A	17.37:g.726884G>T	ENSP00000337443:p.Phe200Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.F200L	ENST00000336868.3	37	c.600	CCDS10998.1	17	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935833	0.52972	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.86097	-2.07	5.87	3.88	0.44766	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.93171	0.7825	M	0.92923	3.36	0.80722	D	1	B;D;D	0.61697	0.026;0.99;0.985	B;D;D	0.72982	0.022;0.979;0.977	D	0.94117	0.7376	10	0.72032	D	0.01	-22.3976	11.7882	0.52055	0.1416:0.0:0.8584:0.0	.	92;87;200	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	L	200;92	ENSP00000337443:F200L	ENSP00000337443:F200L	F	-	3	2	NXN	673634	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.289000	0.65656	1.633000	0.50488	-0.137000	0.14449	TTC	NXN	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000167693		0.572	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXN	HGNC	protein_coding	OTTHUMT00000206669.1	105	0.00	0	G			726884	726884	-1	no_errors	ENST00000336868	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	T
NXPH2	11249	genome.wustl.edu	37	2	139428886	139428886	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:139428886A>C	ENST00000272641.3	-	2	507	c.401T>G	c.(400-402)aTt>aGt	p.I134S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	134	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATGGTCAACAATTTTCCCTGT	0.408																																						dbGAP											0													58.0	52.0	54.0					2																	139428886		1869	4116	5985	-	-	-	SO:0001583	missense	0			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.401T>G	2.37:g.139428886A>C	ENSP00000272641:p.Ile134Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pirsf_Neurexophilin	p.I134S	ENST00000272641.3	37	c.401	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010213	0.75046	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79647	-0.1716	8	.	.	.	-21.3489	16.2026	0.82095	1.0:0.0:0.0:0.0	.	134	O95156	NXPH2_HUMAN	S	134	.	.	I	-	2	0	NXPH2	139145356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.285000	0.76669	0.533000	0.62120	ATT	NXPH2	-	pirsf_Neurexophilin	ENSG00000144227		0.408	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1	257	0.00	0	A			139428886	139428886	-1	no_errors	ENST00000272641	ensembl	human	known	69_37n	missense	213	12.70	31	SNP	1.000	C
NYNRIN	57523	genome.wustl.edu	37	14	24886015	24886015	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24886015G>A	ENST00000382554.3	+	9	5378	c.5060G>A	c.(5059-5061)cGg>cAg	p.R1687Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1687	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGTTTGCCCGGCACGTCCTT	0.662																																						dbGAP											0													18.0	20.0	20.0					14																	24886015		1944	4138	6082	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5060G>A	14.37:g.24886015G>A	ENSP00000371994:p.Arg1687Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.R1687Q	ENST00000382554.3	37	c.5060	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316605	0.81469	.	.	ENSG00000205978	ENST00000382554	T	0.41400	1.0	5.26	5.26	0.73747	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50905	0.1643	N	0.22421	0.69	0.33924	D	0.64118	D	0.89917	1.0	D	0.69142	0.962	T	0.62348	-0.6873	9	0.72032	D	0.01	.	16.4044	0.83654	0.0:0.0:1.0:0.0	.	1687	Q9P2P1	NYNRI_HUMAN	Q	1687	ENSP00000371994:R1687Q	ENSP00000371994:R1687Q	R	+	2	0	NYNRIN	23955855	1.000000	0.71417	0.997000	0.53966	0.923000	0.55619	4.830000	0.62745	2.735000	0.93741	0.561000	0.74099	CGG	NYNRIN	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	ENSG00000205978		0.662	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	29	0.00	0	G			24886015	24886015	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	A
NYNRIN	57523	genome.wustl.edu	37	14	24886565	24886565	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24886565G>T	ENST00000382554.3	+	9	5928	c.5610G>T	c.(5608-5610)gaG>gaT	p.E1870D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1870					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAACCCCAGAGAAGCTGGGGT	0.592																																						dbGAP											0													18.0	20.0	20.0					14																	24886565		1897	4116	6013	-	-	-	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5610G>T	14.37:g.24886565G>T	ENSP00000371994:p.Glu1870Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.E1870D	ENST00000382554.3	37	c.5610	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144599	0.37825	.	.	ENSG00000205978	ENST00000382554	T	0.10005	2.92	4.65	3.73	0.42828	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.22050	N	0.999395	B	0.12013	0.005	B	0.08055	0.003	T	0.38308	-0.9667	9	0.23302	T	0.38	.	10.5648	0.45167	0.0:0.2056:0.7944:0.0	.	1870	Q9P2P1	NYNRI_HUMAN	D	1870	ENSP00000371994:E1870D	ENSP00000371994:E1870D	E	+	3	2	NYNRIN	23956405	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.844000	0.39269	1.269000	0.44280	0.563000	0.77884	GAG	NYNRIN	-	NULL	ENSG00000205978		0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	60	0.00	0	G			24886565	24886565	+1	no_errors	ENST00000382554	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	T
OAF	220323	genome.wustl.edu	37	11	120096397	120096397	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:120096397C>T	ENST00000328965.4	+	2	772	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	87						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GGCCCTGATCCTGGGGGAGCT	0.622																																						dbGAP											0													86.0	82.0	83.0					11																	120096397		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.259C>T	11.37:g.120096397C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L87	ENST00000328965.4	37	c.259	CCDS8430.1	11																																																																																			OAF	-	NULL	ENSG00000184232		0.622	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAF	HGNC	protein_coding	OTTHUMT00000388036.2	115	0.00	0	C	NM_178507		120096397	120096397	+1	no_errors	ENST00000328965	ensembl	human	known	69_37n	silent	51	36.59	30	SNP	1.000	T
OAS2	4939	genome.wustl.edu	37	12	113444335	113444335	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:113444335G>A	ENST00000342315.4	+	8	1800	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	OAS2_ENST00000392583.2_Missense_Mutation_p.R529Q|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	529	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTCCTGCAGCGAAACTTCATT	0.512																																					Pancreas(199;709 2232 18410 33584 35052)	dbGAP											0													121.0	121.0	121.0					12																	113444335		2203	4300	6503	-	-	-	SO:0001583	missense	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1586G>A	12.37:g.113444335G>A	ENSP00000342278:p.Arg529Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R529Q	ENST00000342315.4	37	c.1586	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	9.110	1.006373	0.19199	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.47528	0.84;0.84	4.38	3.49	0.39957	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.832072	0.09587	N	0.781988	T	0.40619	0.1124	L	0.46947	1.48	0.20638	N	0.999875	B;B	0.28378	0.206;0.209	B;B	0.25884	0.028;0.064	T	0.29852	-0.9998	10	0.45353	T	0.12	-3.741	8.6317	0.33924	0.1059:0.0:0.8941:0.0	.	529;529	P29728;P29728-2	OAS2_HUMAN;.	Q	529	ENSP00000342278:R529Q;ENSP00000376362:R529Q	ENSP00000342278:R529Q	R	+	2	0	OAS2	111928718	0.196000	0.23350	0.131000	0.22000	0.221000	0.24807	2.549000	0.45803	1.199000	0.43173	-0.122000	0.15005	CGA	OAS2	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111335		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	184	0.00	0	G			113444335	113444335	+1	no_errors	ENST00000342315	ensembl	human	known	69_37n	missense	112	28.03	44	SNP	0.000	A
OASL	8638	genome.wustl.edu	37	12	121458768	121458768	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:121458768C>A	ENST00000257570.5	-	6	1411	c.1141G>T	c.(1141-1143)Gag>Tag	p.E381*	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	381	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGATTTTCTCTTTAACCTTC	0.552																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0													53.0	53.0	53.0					12																	121458768		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1141G>T	12.37:g.121458768C>A	ENSP00000257570:p.Glu381*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Nonsense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.E381*	ENST00000257570.5	37	c.1141	CCDS9211.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.489741	0.96323	.	.	ENSG00000135114	ENST00000257570	.	.	.	6.11	2.83	0.33086	.	0.656142	0.13784	N	0.363016	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	0.1262	5.7017	0.17885	0.0:0.6312:0.157:0.2118	.	.	.	.	X	381	.	ENSP00000257570:E381X	E	-	1	0	OASL	119943151	0.000000	0.05858	0.034000	0.17996	0.209000	0.24338	-0.755000	0.04782	1.338000	0.45544	0.655000	0.94253	GAG	OASL	-	smart_Ubiquitin	ENSG00000135114		0.552	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	196	0.00	0	C	NM_003733		121458768	121458768	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	nonsense	90	30.77	40	SNP	0.004	A
OASL	8638	genome.wustl.edu	37	12	121458802	121458802	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:121458802G>A	ENST00000257570.5	-	6	1377	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	369	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAGGGTTCACGATGAGGTTGA	0.542																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0													55.0	50.0	52.0					12																	121458802		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.1107C>T	12.37:g.121458802G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.I369	ENST00000257570.5	37	c.1107	CCDS9211.1	12																																																																																			OASL	-	smart_Ubiquitin	ENSG00000135114		0.542	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	138	0.00	0	G	NM_003733		121458802	121458802	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	silent	95	12.04	13	SNP	0.673	A
OAZ3	51686	genome.wustl.edu	37	1	151739680	151739680	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151739680G>A	ENST00000321531.5	+	2	241	c.74G>A	c.(73-75)cGt>cAt	p.R25H	OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.16_ENST00000596133.1_RNA|OAZ3_ENST00000315067.8_Splice_Site_p.R25H|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.R38H			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	70					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CTCCAGCCCCGTTCCTGCCTC	0.507																																						dbGAP											0													120.0	124.0	123.0					1																	151739680		1924	4115	6039	-	-	-	SO:0001583	missense	0			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.74G>A	1.37:g.151739680G>A	ENSP00000313922:p.Arg25His	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EUE7|Q6GMR0	Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.R25H	ENST00000321531.5	37	c.74	CCDS58028.1	1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637097	0.47049	.	.	ENSG00000143450	ENST00000418982;ENST00000315067;ENST00000321531	T	0.33865	1.39	5.65	4.73	0.59995	.	.	.	.	.	T	0.09024	0.0223	L	0.27053	0.805	0.26137	N	0.980334	B	0.19073	0.033	B	0.15484	0.013	T	0.24083	-1.0170	9	0.12103	T	0.63	12.2895	9.5224	0.39143	0.095:0.0:0.905:0.0	.	22	Q9UMX2	OAZ3_HUMAN	H	25;25;70	ENSP00000357820:R25H	ENSP00000357820:R25H	R	+	2	0	OAZ3	150006304	0.992000	0.36948	0.951000	0.38953	0.924000	0.55760	2.430000	0.44766	1.598000	0.50083	0.655000	0.94253	CGT	OAZ3	-	NULL	ENSG00000143450		0.507	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	OAZ3	HGNC	protein_coding	OTTHUMT00000276842.3	185	0.00	0	G	NM_016178		151739680	151739680	+1	no_errors	ENST00000315067	ensembl	human	known	69_37n	missense	98	24.43	32	SNP	0.967	A
OBSCN	84033	genome.wustl.edu	37	1	228459879	228459879	+	Intron	SNP	C	C	T	rs571204172		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:228459879C>T	ENST00000422127.1	+	18	5181				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000359599.6_Silent_p.C453C|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.C1981C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTACAGCTGCGAGGCTGGGG	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17263	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													43.0	45.0	44.0					1																	228459879		875	1991	2866	-	-	-	SO:0001627	intron_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5138-1592C>T	1.37:g.228459879C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C453	ENST00000422127.1	37	c.1359	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		9	0.00	0	C	NM_052843		228459879	228459879	+1	no_start_codon	ENST00000359599	ensembl	human	known	69_37n	silent	7	56.25	9	SNP	0.511	T
OBSCN	84033	genome.wustl.edu	37	1	228494979	228494979	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:228494979G>T	ENST00000422127.1	+	46	12257	c.12213G>T	c.(12211-12213)aaG>aaT	p.K4071N	OBSCN_ENST00000366707.4_Missense_Mutation_p.K1705N|OBSCN_ENST00000570156.2_Missense_Mutation_p.K5028N|OBSCN_ENST00000284548.11_Missense_Mutation_p.K4071N|OBSCN_ENST00000366709.4_Missense_Mutation_p.K1190N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4071	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGTTCAAGACCCGGCTTC	0.622																																						dbGAP											0													59.0	69.0	65.0					1																	228494979		2092	4212	6304	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12213G>T	1.37:g.228494979G>T	ENSP00000409493:p.Lys4071Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.K4071N	ENST00000422127.1	37	c.12213	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772192	0.49680	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.581149	0.17708	N	0.164665	T	0.72748	0.3499	M	0.72118	2.19	0.21697	N	0.999589	B;P	0.46952	0.055;0.887	B;P	0.47528	0.068;0.549	T	0.66256	-0.5969	10	0.17832	T	0.49	.	19.6737	0.95921	0.0:0.0:1.0:0.0	.	4071;4071	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	4071;4071;1705;1190	ENSP00000284548:K4071N;ENSP00000409493:K4071N;ENSP00000355668:K1705N;ENSP00000355670:K1190N	ENSP00000284548:K4071N	K	+	3	2	OBSCN	226561602	0.092000	0.21681	0.533000	0.28001	0.006000	0.05464	1.873000	0.39558	2.757000	0.94681	0.462000	0.41574	AAG	OBSCN	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000154358		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		77	0.00	0	G	NM_052843		228494979	228494979	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	0.885	T
OC90	729330	genome.wustl.edu	37	8	133067261	133067261	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:133067261G>T	ENST00000443356.2	-	2	99	c.13C>A	c.(13-15)Ctc>Atc	p.L5I	OC90_ENST00000254627.3_Missense_Mutation_p.L5I|OC90_ENST00000603859.1_Missense_Mutation_p.L5I|OC90_ENST00000262283.5_Missense_Mutation_p.L201I			Q02509	OC90_HUMAN	otoconin 90	5					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTGGTGAGGAGAAACGCAATC	0.473																																						dbGAP											0													114.0	115.0	115.0					8																	133067261		692	1591	2283	-	-	-	SO:0001583	missense	0			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.13C>A	8.37:g.133067261G>T	ENSP00000390050:p.Leu5Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNG8	Missense_Mutation	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.L5I	ENST00000443356.2	37	c.13		8	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519504	0.44866	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.37235	1.26;1.21;1.28	3.53	3.53	0.40419	.	0.453783	0.21139	N	0.079514	T	0.25680	0.0625	L	0.27053	0.805	0.09310	N	1	P	0.45531	0.86	B	0.40410	0.328	T	0.18085	-1.0348	10	0.87932	D	0	-9.183	10.8732	0.46896	0.0:0.0:1.0:0.0	.	5	Q02509-2	.	I	5;5;201	ENSP00000254627:L5I;ENSP00000390050:L5I;ENSP00000262283:L201I	ENSP00000254627:L5I	L	-	1	0	RP11-240B13.2;OC90	133136443	0.852000	0.29690	0.029000	0.17559	0.001000	0.01503	3.817000	0.55668	2.274000	0.75844	0.563000	0.77884	CTC	OC90	-	NULL	ENSG00000253117		0.473	OC90-201	KNOWN	basic	protein_coding	OC90	HGNC	protein_coding		289	0.00	0	G	NM_001080399		133067261	133067261	-1	no_errors	ENST00000443356	ensembl	human	known	69_37n	missense	185	27.24	70	SNP	0.032	T
ODF2L	57489	genome.wustl.edu	37	1	86824488	86824488	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:86824488T>G	ENST00000359242.3	-	13	1622	c.1341A>C	c.(1339-1341)aaA>aaC	p.K447N	ODF2L_ENST00000294678.2_Missense_Mutation_p.K418N|ODF2L_ENST00000317336.7_Missense_Mutation_p.K447N|ODF2L_ENST00000394731.1_Missense_Mutation_p.K287N|ODF2L_ENST00000370567.1_Missense_Mutation_p.K418N|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Missense_Mutation_p.K418N	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	447						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CATTTTTATTTTTGGTTTTTG	0.239																																						dbGAP											0													33.0	31.0	32.0					1																	86824488		2180	4264	6444	-	-	-	SO:0001583	missense	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1341A>C	1.37:g.86824488T>G	ENSP00000359600:p.Lys447Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.K447N	ENST00000359242.3	37	c.1341	CCDS41354.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.82|13.82	2.352476|2.352476	0.41700|0.41700	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678|ENST00000459999	T;T;D;T;T;T;D|.	0.82081|.	1.73;1.7;-1.57;1.72;1.7;1.73;-1.57|.	5.55|5.55	4.43|4.43	0.53597|0.53597	.|.	0.185911|0.185911	0.47455|0.47455	D|D	0.000238|0.000238	T|T	0.43122|0.43122	0.1233|0.1233	M|M	0.68952|0.68952	2.095|2.095	0.45634|0.45634	D|D	0.998562|0.998562	D;D;P;D;D;D|.	0.89917|.	1.0;0.993;0.935;1.0;1.0;1.0|.	D;P;P;D;D;D|.	0.91635|.	0.998;0.726;0.586;0.994;0.998;0.999|.	T|T	0.45469|0.45469	-0.9259|-0.9259	10|7	0.16896|0.10902	T|T	0.51|0.67	-25.5221|-25.5221	7.4085|7.4085	0.27004|0.27004	0.0:0.0951:0.0:0.9049|0.0:0.0951:0.0:0.9049	.|.	418;418;447;418;418;447|.	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;.;ODF2L_HUMAN|.	N|T	418;418;447;294;447;418;287;418|267	ENSP00000359597:K418N;ENSP00000359600:K447N;ENSP00000433092:K294N;ENSP00000320165:K447N;ENSP00000359598:K418N;ENSP00000378219:K287N;ENSP00000294678:K418N|.	ENSP00000294678:K418N|ENSP00000436849:K267T	K|K	-|-	3|2	2|0	ODF2L|ODF2L	86597076|86597076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.677000|0.677000	0.39632|0.39632	2.404000|2.404000	0.44539|0.44539	2.097000|2.097000	0.63578|0.63578	0.460000|0.460000	0.39030|0.39030	AAA|AAA	ODF2L	-	NULL	ENSG00000122417		0.239	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	143	0.00	0	T			86824488	86824488	-1	no_errors	ENST00000317336	ensembl	human	known	69_37n	missense	100	15.25	18	SNP	1.000	G
ODF2L	57489	genome.wustl.edu	37	1	86824492	86824492	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:86824492G>T	ENST00000359242.3	-	13	1618	c.1337C>A	c.(1336-1338)aCc>aAc	p.T446N	ODF2L_ENST00000294678.2_Missense_Mutation_p.T417N|ODF2L_ENST00000317336.7_Missense_Mutation_p.T446N|ODF2L_ENST00000394731.1_Missense_Mutation_p.T286N|ODF2L_ENST00000370567.1_Missense_Mutation_p.T417N|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000370566.3_Missense_Mutation_p.T417N	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	446						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTTATTTTTGGTTTTTGTTAT	0.239																																						dbGAP											0													34.0	32.0	33.0					1																	86824492		2183	4267	6450	-	-	-	SO:0001583	missense	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1337C>A	1.37:g.86824492G>T	ENSP00000359600:p.Thr446Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.T446N	ENST00000359242.3	37	c.1337	CCDS41354.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.742|0.742	-0.776147|-0.776147	0.02951|0.02951	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000459999|ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000294678	.|T;T;T;T;T;T;T	.|0.78595	.|1.93;1.98;-1.19;1.99;2.0;2.0;-1.19	5.55|5.55	-1.26|-1.26	0.09376|0.09376	.|.	.|0.995865	.|0.08153	.|N	.|0.989704	T|T	0.17704|0.17704	0.0425|0.0425	N|N	0.00368|0.00368	-1.59|-1.59	0.18873|0.18873	N|N	0.999989|0.999989	.|B;B;B;B;B;B	.|0.12013	.|0.0;0.0;0.002;0.001;0.0;0.005	.|B;B;B;B;B;B	.|0.09377	.|0.001;0.002;0.002;0.002;0.002;0.004	T|T	0.16541|0.16541	-1.0399|-1.0399	5|10	.|0.26408	.|T	.|0.33	0.0023|0.0023	5.8128|5.8128	0.18475|0.18475	0.0:0.1905:0.4835:0.326|0.0:0.1905:0.4835:0.326	.|.	.|417;417;446;417;417;446	.|B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.|.;.;.;.;.;ODF2L_HUMAN	T|N	266|417;417;446;293;446;417;286;417	.|ENSP00000359597:T417N;ENSP00000359600:T446N;ENSP00000433092:T293N;ENSP00000320165:T446N;ENSP00000359598:T417N;ENSP00000378219:T286N;ENSP00000294678:T417N	.|ENSP00000294678:T417N	P|T	-|-	1|2	0|0	ODF2L|ODF2L	86597080|86597080	0.024000|0.024000	0.19004|0.19004	0.957000|0.957000	0.39632|0.39632	0.715000|0.715000	0.41141|0.41141	-0.523000|-0.523000	0.06230|0.06230	0.055000|0.055000	0.16094|0.16094	-0.457000|-0.457000	0.05445|0.05445	CCA|ACC	ODF2L	-	NULL	ENSG00000122417		0.239	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	159	0.00	0	G			86824492	86824492	-1	no_errors	ENST00000317336	ensembl	human	known	69_37n	missense	111	13.28	17	SNP	0.862	T
TENM1	10178	genome.wustl.edu	37	X	123805646	123805646	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:123805646A>T	ENST00000371130.3	-	6	1118	c.1055T>A	c.(1054-1056)gTt>gAt	p.V352D	TENM1_ENST00000422452.2_Missense_Mutation_p.V352D	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	352					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCTCCTTCAACTGGTTGCAA	0.453																																						dbGAP											0													187.0	160.0	169.0					X																	123805646		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1055T>A	X.37:g.123805646A>T	ENSP00000360171:p.Val352Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.V352D	ENST00000371130.3	37	c.1055	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475730	0.63737	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86956	-2.19;-2.15	5.97	4.82	0.62117	.	0.315716	0.28946	N	0.013628	D	0.85383	0.5684	L	0.44542	1.39	0.80722	D	1	D;B;B	0.56035	0.974;0.08;0.209	P;B;B	0.49140	0.601;0.015;0.023	D	0.84415	0.0568	10	0.59425	D	0.04	.	10.2834	0.43554	0.9205:0.0:0.0795:0.0	.	351;352;352	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	D	352	ENSP00000360171:V352D;ENSP00000403954:V352D	ENSP00000360171:V352D	V	-	2	0	ODZ1	123633327	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.123000	0.64703	0.870000	0.35726	0.481000	0.45027	GTT	ODZ1	-	NULL	ENSG00000009694		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	274	0.00	0	A	NM_014253		123805646	123805646	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	218	15.12	39	SNP	1.000	T
TENM2	57451	genome.wustl.edu	37	5	167622189	167622189	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:167622189C>A	ENST00000518659.1	+	15	2828	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	TENM2_ENST00000520394.1_Missense_Mutation_p.S698Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S930Y|TENM2_ENST00000519204.1_Missense_Mutation_p.S809Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S754Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	930					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S763Y(1)|p.S930Y(1)									AGCTTGGTTTCTCTCATCCGA	0.512																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											93.0	96.0	95.0					5																	167622189		1988	4173	6161	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2789C>A	5.37:g.167622189C>A	ENSP00000429430:p.Ser930Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S930Y	ENST00000518659.1	37	c.2789		5	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401024	0.83120	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92699	-2.6;-2.6;-2.72;-3.07;-3.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	M	0.74467	2.265	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.992	D	0.96158	0.9113	10	0.87932	D	0	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	930;930;698	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Y	930;930;809;698;754	ENSP00000429430:S930Y;ENSP00000438635:S930Y;ENSP00000428964:S809Y;ENSP00000427874:S698Y;ENSP00000384905:S754Y	ENSP00000384905:S754Y	S	+	2	0	ODZ2	167554767	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.007000	0.70731	2.652000	0.90054	0.655000	0.94253	TCT	ODZ2	-	superfamily_ConA-like_lec_gl	ENSG00000145934		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	262	0.00	0	C	NM_001122679		167622189	167622189	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	226	12.02	31	SNP	1.000	A
TENM2	57451	genome.wustl.edu	37	5	167671440	167671440	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:167671440C>A	ENST00000518659.1	+	26	5575	c.5536C>A	c.(5536-5538)Ctc>Atc	p.L1846I	TENM2_ENST00000520394.1_Missense_Mutation_p.L1607I|TENM2_ENST00000545108.1_Missense_Mutation_p.L1845I|TENM2_ENST00000519204.1_Missense_Mutation_p.L1725I|TENM2_ENST00000403607.2_Missense_Mutation_p.L1670I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1846					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGGAAGAAATCTCTTGTCCAT	0.502																																						dbGAP											0													66.0	60.0	62.0					5																	167671440		1917	4128	6045	-	-	-	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5536C>A	5.37:g.167671440C>A	ENSP00000429430:p.Leu1846Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L1846I	ENST00000518659.1	37	c.5536		5	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202856	0.38905	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89810	-2.1;-2.09;-2.2;-2.53;-2.57	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	L	0.39020	1.185	0.42219	D	0.99184	P;P;D	0.61697	0.675;0.546;0.99	B;B;D	0.72982	0.254;0.13;0.979	D	0.87997	0.2753	10	0.36615	T	0.2	.	8.5623	0.33518	0.0:0.7821:0.0:0.2179	.	1845;1846;1607	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	1846;1845;1725;1607;1670	ENSP00000429430:L1846I;ENSP00000438635:L1845I;ENSP00000428964:L1725I;ENSP00000427874:L1607I;ENSP00000384905:L1670I	ENSP00000384905:L1670I	L	+	1	0	ODZ2	167604018	0.292000	0.24362	0.998000	0.56505	0.938000	0.57974	0.841000	0.27613	2.275000	0.75901	0.561000	0.74099	CTC	ODZ2	-	superfamily_ConA-like_lec_gl	ENSG00000145934		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	51	0.00	0	C	NM_001122679		167671440	167671440	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183713542	183713542	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:183713542G>A	ENST00000511685.1	+	26	5840	c.5717G>A	c.(5716-5718)cGa>cAa	p.R1906Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R1906Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1906					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CAGACCATCCGATCCATTGGC	0.542																																						dbGAP											0													65.0	70.0	68.0					4																	183713542		2022	4184	6206	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5717G>A	4.37:g.183713542G>A	ENSP00000424226:p.Arg1906Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1906Q	ENST00000511685.1	37	c.5717	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587914	0.66105	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86164	-2.08;-2.08	5.18	5.18	0.71444	.	.	.	.	.	D	0.91855	0.7422	M	0.63428	1.95	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	D	0.89608	0.3839	9	0.28530	T	0.3	.	18.8905	0.92399	0.0:0.0:1.0:0.0	.	1906	Q9P273	TEN3_HUMAN	Q	1906	ENSP00000424226:R1906Q;ENSP00000385276:R1906Q	ENSP00000385276:R1906Q	R	+	2	0	ODZ3	183950536	1.000000	0.71417	0.975000	0.42487	0.977000	0.68977	9.623000	0.98386	2.688000	0.91661	0.591000	0.81541	CGA	ODZ3	-	NULL	ENSG00000218336		0.542	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	54	0.00	0	G			183713542	183713542	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78567023	78567023	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:78567023G>A	ENST00000278550.7	-	11	1918	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	486					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GTATGTGAAGGAGGGAGGCCT	0.483																																						dbGAP											0													82.0	74.0	76.0					11																	78567023		692	1591	2283	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1456C>T	11.37:g.78567023G>A	ENSP00000278550:p.Pro486Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.P486S	ENST00000278550.7	37	c.1456	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791818	0.90453	.	.	ENSG00000149256	ENST00000278550	T	0.37235	1.21	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62310	-0.6881	9	.	.	.	.	18.2591	0.90028	0.0:0.0:1.0:0.0	.	486	Q6N022	TEN4_HUMAN	S	486	ENSP00000278550:P486S	.	P	-	1	0	ODZ4	78244671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.539000	0.85634	0.561000	0.74099	CCT	ODZ4	-	NULL	ENSG00000149256		0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	118	0.00	0	G			78567023	78567023	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	110	17.29	23	SNP	1.000	A
OFCC1	266553	genome.wustl.edu	37	6	9903665	9903665	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:9903665C>A	ENST00000472329.1	-	0	517				OFCC1_ENST00000316020.6_Intron			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				ATAGAAAATTCTATCGTCATC	0.299																																						dbGAP											0													106.0	107.0	106.0					6																	9903665		2202	4297	6499	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000472329.1:c.-517G>T	6.37:g.9903665C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Nonsense_Mutation	SNP	NULL	p.E5*	ENST00000472329.1	37	c.13		6																																																																																			OFCC1	-	NULL	ENSG00000181355		0.299	OFCC1-003	KNOWN	basic	processed_transcript	OFCC1	HGNC	protein_coding	OTTHUMT00000353310.2	492	0.00	0	C	NM_153003		9903665	9903665	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000469656	ensembl	human	known	69_37n	nonsense	418	11.44	54	SNP	0.011	A
OGFRL1	79627	genome.wustl.edu	37	6	72011678	72011678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:72011678G>T	ENST00000370435.4	+	7	1416	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	428						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GAATAACGAAGAAGGTGGAAA	0.378																																						dbGAP											0													95.0	104.0	101.0					6																	72011678		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1282G>T	6.37:g.72011678G>T	ENSP00000359464:p.Glu428*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC1|Q8NEQ4|Q9H7B5	Nonsense_Mutation	SNP	pfam_OGF_rcpt	p.E428*	ENST00000370435.4	37	c.1282	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010619	0.54361	.	.	ENSG00000119900	ENST00000370435	.	.	.	5.59	4.72	0.59763	.	0.979946	0.08347	N	0.959884	.	.	.	.	.	.	0.39195	D	0.963043	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.8725	6.468	0.21993	0.1491:0.0:0.7033:0.1476	.	.	.	.	X	428	.	ENSP00000359464:E428X	E	+	1	0	OGFRL1	72068399	0.984000	0.35163	0.030000	0.17652	0.016000	0.09150	3.119000	0.50422	1.353000	0.45828	0.563000	0.77884	GAA	OGFRL1	-	NULL	ENSG00000119900		0.378	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	114	0.00	0	G	NM_024576		72011678	72011678	+1	no_errors	ENST00000370435	ensembl	human	known	69_37n	nonsense	115	13.53	18	SNP	0.090	T
OGG1	4968	genome.wustl.edu	37	3	9798849	9798849	+	3'UTR	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:9798849A>G	ENST00000344629.7	+	0	1396				OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.D357G|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000383826.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGCACCCTGGACAAAGAAATT	0.602								Base excision repair (BER), DNA glycosylases																														dbGAP											0													89.0	96.0	93.0					3																	9798849		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.*15A>G	3.37:g.9798849A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.D357G	ENST00000344629.7	37	c.1070	CCDS2581.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.39|10.39	1.337506|1.337506	0.24253|0.24253	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000302003;ENST00000339542|ENST00000416333	T|.	0.59906|.	0.23|.	3.68|3.68	1.07|1.07	0.20283|0.20283	.|.	.|.	.|.	.|.	.|.	T|T	0.18087|0.18087	0.0434|0.0434	N|N	0.02539|0.02539	-0.55|-0.55	0.38020|0.38020	D|D	0.934806|0.934806	B;B;B;B|.	0.20887|.	0.002;0.049;0.003;0.001|.	B;B;B;B|.	0.17722|.	0.007;0.019;0.007;0.001|.	T|T	0.08006|0.08006	-1.0743|-1.0743	9|5	0.29301|.	T|.	0.29|.	.|.	5.0966|5.0966	0.14737|0.14737	0.6767:0.0:0.3233:0.0|0.6767:0.0:0.3233:0.0	.|.	144;128;357;357|.	F8WA07;Q9HCR8;O15527-3;E5KPN0|.	.;.;.;.|.	G|A	357;144|124	ENSP00000305584:D357G|.	ENSP00000305584:D357G|.	D|T	+|+	2|1	0|0	OGG1|OGG1	9773849|9773849	0.000000|0.000000	0.05858|0.05858	0.654000|0.654000	0.29608|0.29608	0.309000|0.309000	0.27889|0.27889	0.259000|0.259000	0.18405|0.18405	0.098000|0.098000	0.17522|0.17522	-0.417000|-0.417000	0.06048|0.06048	GAC|ACA	OGG1	-	NULL	ENSG00000114026		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2	262	0.00	0	A	NM_016821		9798849	9798849	+1	no_errors	ENST00000302003	ensembl	human	known	69_37n	missense	174	11.68	23	SNP	0.635	G
OGT	8473	genome.wustl.edu	37	X	70757738	70757738	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70757738C>T	ENST00000373719.3	+	3	495	c.278C>T	c.(277-279)tCg>tTg	p.S93L	OGT_ENST00000373701.3_Missense_Mutation_p.S83L|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	93					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAAGCTTATTCGAATTTGGGG	0.448																																						dbGAP											0													129.0	118.0	122.0					X																	70757738		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.278C>T	X.37:g.70757738C>T	ENSP00000362824:p.Ser93Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R53*	ENST00000373719.3	37	c.157	CCDS14414.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	22.2|22.2	4.259896|4.259896	0.80246|0.80246	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701;ENST00000444774	.|T;T;T	.|0.58210	.|0.35;0.35;0.35	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.48786	.|0.1519	N|N	0.03071|0.03071	-0.42|-0.42	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.89917	.|0.015;0.997;1.0	.|B;D;D	.|0.97110	.|0.031;0.959;1.0	.|T	.|0.57670	.|-0.7771	.|10	.|0.23891	.|T	.|0.37	-12.9378|-12.9378	17.0126|17.0126	0.86410|0.86410	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93;83;93	.|B4DTL6;O15294-3;O15294	.|.;.;OGT1_HUMAN	X|L	53|93;83;76	.|ENSP00000362824:S93L;ENSP00000362805:S83L;ENSP00000399729:S76L	.|ENSP00000362805:S83L	R|S	+|+	1|2	2|0	OGT|OGT	70674463|70674463	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.631000|0.631000	0.37964|0.37964	7.533000|7.533000	0.81994|0.81994	2.195000|2.195000	0.70347|0.70347	0.431000|0.431000	0.28591|0.28591	CGA|TCG	OGT	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147162		0.448	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	208	0.00	0	C	NM_003605, NM_181672		70757738	70757738	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455587	ensembl	human	putative	69_37n	nonsense	194	24.81	64	SNP	1.000	T
OGT	8473	genome.wustl.edu	37	X	70775170	70775170	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70775170G>A	ENST00000373719.3	+	7	1076	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	OGT_ENST00000373701.3_Missense_Mutation_p.E277K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	287					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCGGGCTATCGAACTACAACC	0.458																																						dbGAP											0													109.0	86.0	94.0					X																	70775170		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.859G>A	X.37:g.70775170G>A	ENSP00000362824:p.Glu287Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E287K	ENST00000373719.3	37	c.859	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505218	0.85282	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.60424	0.19;0.19	5.05	5.05	0.67936	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	L	0.48935	1.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;P	0.87578	0.998;0.993;0.831	T	0.64816	-0.6318	10	0.23891	T	0.37	-29.6243	17.5948	0.88009	0.0:0.0:1.0:0.0	.	161;277;287	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	K	287;277	ENSP00000362824:E287K;ENSP00000362805:E277K	ENSP00000362805:E277K	E	+	1	0	OGT	70691895	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.582000	0.98214	2.340000	0.79590	0.600000	0.82982	GAA	OGT	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147162		0.458	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	138	0.72	1	G	NM_003605, NM_181672		70775170	70775170	+1	no_errors	ENST00000373719	ensembl	human	known	69_37n	missense	95	25.78	33	SNP	1.000	A
OLFML1	283298	genome.wustl.edu	37	11	7531205	7531205	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7531205G>T	ENST00000329293.3	+	3	1389	c.995G>T	c.(994-996)aGt>aTt	p.S332I	OLFML1_ENST00000530135.1_Missense_Mutation_p.S332I|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	332	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTGGTCTACAGTACTGGGGGC	0.557																																						dbGAP											0													96.0	91.0	93.0					11																	7531205		2201	4296	6497	-	-	-	SO:0001583	missense	0			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.995G>T	11.37:g.7531205G>T	ENSP00000332511:p.Ser332Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP03|Q569G4	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.S332I	ENST00000329293.3	37	c.995	CCDS7779.1	11	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176165	0.21704	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.90563	-2.69;-2.69	5.41	1.46	0.22682	Olfactomedin-like (3);	0.429274	0.27336	N	0.019835	D	0.91533	0.7326	M	0.80508	2.5	0.09310	N	0.999995	P;P	0.42941	0.794;0.794	P;P	0.49192	0.478;0.602	D	0.85140	0.0980	10	0.87932	D	0	.	7.866	0.29537	0.4196:0.0:0.5804:0.0	.	196;332	B4DN61;Q6UWY5	.;OLFL1_HUMAN	I	332	ENSP00000433455:S332I;ENSP00000332511:S332I	ENSP00000332511:S332I	S	+	2	0	OLFML1	7487781	1.000000	0.71417	0.004000	0.12327	0.064000	0.16182	3.575000	0.53870	0.020000	0.15106	-0.251000	0.11542	AGT	OLFML1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000183801		0.557	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	198	0.00	0	G	NM_198474		7531205	7531205	+1	no_errors	ENST00000329293	ensembl	human	known	69_37n	missense	134	12.42	19	SNP	0.106	T
OLFML2B	25903	genome.wustl.edu	37	1	161953617	161953617	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161953617C>T	ENST00000294794.3	-	8	2524	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N	OLFML2B_ENST00000367940.2_Missense_Mutation_p.D702N|OLFML2B_ENST00000367938.1_Missense_Mutation_p.D184N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	701	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGTGGGTGTCGAAAGCGTAG	0.537																																						dbGAP											0													379.0	352.0	361.0					1																	161953617		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2101G>A	1.37:g.161953617C>T	ENSP00000294794:p.Asp701Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.D701N	ENST00000294794.3	37	c.2101	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525505	0.85600	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.91894	-2.93;-2.93;-2.93	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.94666	0.8280	M	0.70275	2.135	0.43555	D	0.995862	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.937	D	0.93443	0.6795	8	0.35671	T	0.21	.	16.5695	0.84607	0.0:1.0:0.0:0.0	.	702;701	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	N	701;702;184	ENSP00000294794:D701N;ENSP00000356917:D702N;ENSP00000356915:D184N	ENSP00000294794:D701N	D	-	1	0	OLFML2B	160220241	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.707000	0.84623	2.491000	0.84063	0.561000	0.74099	GAC	OLFML2B	-	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.537	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	689	0.00	0	C	NM_015441		161953617	161953617	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	missense	426	12.68	62	SNP	1.000	T
OLFML3	56944	genome.wustl.edu	37	1	114523210	114523210	+	Missense_Mutation	SNP	G	G	T	rs369302877		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:114523210G>T	ENST00000320334.4	+	2	445	c.371G>T	c.(370-372)aGa>aTa	p.R124I	OLFML3_ENST00000369551.1_Missense_Mutation_p.R104I|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R104I	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	124					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAAGGGAAGAAGGAATGAG	0.493																																						dbGAP											0													85.0	87.0	86.0					1																	114523210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.371G>T	1.37:g.114523210G>T	ENSP00000322273:p.Arg124Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.R124I	ENST00000320334.4	37	c.371	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770355	0.69992	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.89050	-2.46;-2.39;-2.46	5.59	5.59	0.84812	.	0.186224	0.56097	D	0.000026	T	0.75354	0.3838	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.33583	0.418;0.139	B;B	0.27076	0.076;0.011	T	0.80264	-0.1455	10	0.87932	D	0	.	17.373	0.87383	0.0:0.0:1.0:0.0	.	104;124	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	I	104;124;104	ENSP00000358564:R104I;ENSP00000322273:R124I;ENSP00000376977:R104I	ENSP00000322273:R124I	R	+	2	0	OLFML3	114324733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.515000	0.53429	2.629000	0.89072	0.555000	0.69702	AGA	OLFML3	-	NULL	ENSG00000116774		0.493	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	432	0.00	0	G	NM_020190		114523210	114523210	+1	no_errors	ENST00000320334	ensembl	human	known	69_37n	missense	205	30.98	92	SNP	0.999	T
OLFML3	56944	genome.wustl.edu	37	1	114524309	114524309	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:114524309G>A	ENST00000320334.4	+	3	1213	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	OLFML3_ENST00000369551.1_Missense_Mutation_p.R360Q|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R360Q	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	380	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATAACCCCCGAGAACGCCAG	0.547																																						dbGAP											0													48.0	48.0	48.0					1																	114524309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.1139G>A	1.37:g.114524309G>A	ENSP00000322273:p.Arg380Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.R380Q	ENST00000320334.4	37	c.1139	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367809	0.42003	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.89810	-2.57;-2.57;-2.57	5.82	5.82	0.92795	Olfactomedin-like (3);	0.245603	0.42964	D	0.000621	T	0.81527	0.4841	L	0.46670	1.46	0.34105	D	0.662369	B;D	0.53745	0.181;0.962	B;P	0.45276	0.015;0.475	D	0.84074	0.0381	10	0.51188	T	0.08	.	10.2034	0.43099	0.1481:0.0:0.8519:0.0	.	360;380	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	Q	360;380;360	ENSP00000358564:R360Q;ENSP00000322273:R380Q;ENSP00000376977:R360Q	ENSP00000322273:R380Q	R	+	2	0	OLFML3	114325832	0.679000	0.27596	0.990000	0.47175	0.974000	0.67602	1.684000	0.37649	2.745000	0.94114	0.561000	0.74099	CGA	OLFML3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000116774		0.547	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	150	0.00	0	G	NM_020190		114524309	114524309	+1	no_errors	ENST00000320334	ensembl	human	known	69_37n	missense	97	23.02	29	SNP	0.692	A
OLFML2B	25903	genome.wustl.edu	37	1	161953982	161953982	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161953982C>T	ENST00000294794.3	-	8	2159	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	OLFML2B_ENST00000367940.2_Missense_Mutation_p.R580H|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R62H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	579	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGTGAAGGCGCGATTGTAGTA	0.602																																						dbGAP											0													98.0	80.0	86.0					1																	161953982		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1736G>A	1.37:g.161953982C>T	ENSP00000294794:p.Arg579His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.R579H	ENST00000294794.3	37	c.1736	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761294	0.89932	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.90069	-2.61;-2.61;-2.61	5.06	5.06	0.68205	Olfactomedin-like (3);	.	.	.	.	D	0.93436	0.7906	M	0.77313	2.365	0.45066	D	0.998089	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.977	D	0.94289	0.7527	8	0.87932	D	0	.	15.8999	0.79365	0.0:1.0:0.0:0.0	.	580;579	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	H	579;580;62	ENSP00000294794:R579H;ENSP00000356917:R580H;ENSP00000356915:R62H	ENSP00000294794:R579H	R	-	2	0	OLFML2B	160220606	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.673000	0.83973	2.328000	0.79073	0.561000	0.74099	CGC	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.602	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	120	0.00	0	C	NM_015441		161953982	161953982	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	missense	70	21.35	19	SNP	1.000	T
OLIG3	167826	genome.wustl.edu	37	6	137814825	137814825	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:137814825G>A	ENST00000367734.2	-	1	706	c.483C>T	c.(481-483)tgC>tgT	p.C161C		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	161					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CCACGGTCCCGCAGTGAAAGG	0.667																																						dbGAP											0													33.0	36.0	35.0					6																	137814825		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.483C>T	6.37:g.137814825G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8Q0	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.C161	ENST00000367734.2	37	c.483	CCDS5186.1	6																																																																																			OLIG3	-	superfamily_HLH_DNA-bd	ENSG00000177468		0.667	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	26	0.00	0	G	NM_175747		137814825	137814825	-1	no_errors	ENST00000367734	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	1.000	A
OPA1	4976	genome.wustl.edu	37	3	193364862	193364862	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:193364862T>C	ENST00000392438.3	+	17	1832	c.1598T>C	c.(1597-1599)aTg>aCg	p.M533T	OPA1_ENST00000361715.2_Missense_Mutation_p.M552T|OPA1_ENST00000361828.2_Missense_Mutation_p.M551T|OPA1_ENST00000361908.3_Missense_Mutation_p.M570T|OPA1_ENST00000361510.2_Missense_Mutation_p.M588T|OPA1_ENST00000361150.2_Missense_Mutation_p.M534T	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	533	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGGACAAGCATGCTAAAGGCA	0.368																																						dbGAP											0													70.0	70.0	70.0					3																	193364862		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1598T>C	3.37:g.193364862T>C	ENSP00000376233:p.Met533Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.M588T	ENST00000392438.3	37	c.1763	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	T	11.81	1.751199	0.31046	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64;-3.64	5.64	5.64	0.86602	.	0.035831	0.85682	D	0.000000	D	0.88775	0.6528	N	0.14661	0.345	0.58432	D	0.999999	B;B;B;B;B;B;B;B	0.17667	0.001;0.007;0.007;0.001;0.0;0.001;0.023;0.001	B;B;B;B;B;B;B;B	0.17722	0.003;0.007;0.003;0.004;0.001;0.008;0.019;0.003	D	0.84681	0.0717	10	0.32370	T	0.25	-19.6359	15.047	0.71835	0.0:0.0:0.0:1.0	.	497;533;515;534;551;570;552;588	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	T	570;533;588;552;551;534	ENSP00000354681:M570T;ENSP00000376233:M533T;ENSP00000355324:M588T;ENSP00000355311:M552T;ENSP00000354429:M551T;ENSP00000354781:M534T	ENSP00000354781:M534T	M	+	2	0	OPA1	194847556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.291000	0.72719	2.152000	0.67230	0.528000	0.53228	ATG	OPA1	-	NULL	ENSG00000198836		0.368	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	274	0.00	0	T	NM_130837		193364862	193364862	+1	no_errors	ENST00000361510	ensembl	human	known	69_37n	missense	147	12.50	21	SNP	1.000	C
OPN1SW	611	genome.wustl.edu	37	7	128415814	128415814	+	Missense_Mutation	SNP	G	G	T	rs55974922	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:128415814G>T	ENST00000249389.2	-	1	30	c.31C>A	c.(31-33)Ctg>Atg	p.L11M		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	11					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TTTTTGAACAGATAAAACTCT	0.527																																						dbGAP											0													48.0	52.0	50.0					7																	128415814		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.31C>A	7.37:g.128415814G>T	ENSP00000249389:p.Leu11Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13877	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.L11M	ENST00000249389.2	37	c.31	CCDS5806.1	7	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782934	0.31502	.	.	ENSG00000128617	ENST00000249389	T	0.38560	1.13	4.87	3.04	0.35103	.	0.259707	0.31495	N	0.007556	T	0.51398	0.1672	L	0.43646	1.37	0.37061	D	0.898087	D	0.89917	1.0	D	0.91635	0.999	T	0.56661	-0.7942	10	0.87932	D	0	.	7.5642	0.27868	0.0882:0.0:0.7469:0.1649	.	11	P03999	OPSB_HUMAN	M	11	ENSP00000249389:L11M	ENSP00000249389:L11M	L	-	1	2	OPN1SW	128203050	1.000000	0.71417	0.974000	0.42286	0.138000	0.21146	3.295000	0.51794	0.639000	0.30564	0.462000	0.41574	CTG	OPN1SW	-	prints_Opsin_blue	ENSG00000128617		0.527	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	87	0.00	0	G	NM_001708		128415814	128415814	-1	no_errors	ENST00000249389	ensembl	human	known	69_37n	missense	86	14.85	15	SNP	0.990	T
OPTN	10133	genome.wustl.edu	37	10	13158444	13158444	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:13158444C>A	ENST00000378748.3	+	7	988				OPTN_ENST00000378757.2_Intron|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378764.2_Intron|OPTN_ENST00000378747.3_Intron|OPTN_ENST00000378752.3_Intron|OPTN_ENST00000263036.5_Intron	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin						cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GAAGTAACTTCTTTATGATTT	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.626+104C>A	10.37:g.13158444C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	RNA	SNP	-	NULL	ENST00000378748.3	37	NULL	CCDS7094.1	10																																																																																			OPTN	-	-	ENSG00000123240		0.443	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	25	0.00	0	C	NM_021980		13158444	13158444	+1	no_errors	ENST00000486862	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	0.004	A
OR10A3	26496	genome.wustl.edu	37	11	7961060	7961060	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7961060C>A	ENST00000360759.3	-	1	81	c.8G>T	c.(7-9)aGa>aTa	p.R3I		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	3					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGATTTTGTCTTTTCATTTC	0.388																																						dbGAP											0													45.0	46.0	46.0					11																	7961060		2200	4296	6496	-	-	-	SO:0001583	missense	0			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.8G>T	11.37:g.7961060C>A	ENSP00000353988:p.Arg3Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R3I	ENST00000360759.3	37	c.8	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	C	9.550	1.115684	0.20795	.	.	ENSG00000170683	ENST00000360759	T	0.09817	2.94	4.95	0.847	0.18961	.	0.304822	0.22658	U	0.057235	T	0.07188	0.0182	L	0.28608	0.87	0.09310	N	1	P	0.39717	0.684	B	0.38106	0.265	T	0.26608	-1.0098	10	0.41790	T	0.15	.	6.5566	0.22464	0.0:0.3964:0.4363:0.1673	.	3	P58181	O10A3_HUMAN	I	3	ENSP00000353988:R3I	ENSP00000353988:R3I	R	-	2	0	OR10A3	7917636	0.000000	0.05858	0.870000	0.34147	0.512000	0.34134	-0.277000	0.08502	0.074000	0.16767	-0.181000	0.13052	AGA	OR10A3	-	NULL	ENSG00000170683		0.388	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1	198	0.00	0	C	NM_001003745		7961060	7961060	-1	no_errors	ENST00000360759	ensembl	human	known	69_37n	missense	219	10.25	25	SNP	0.013	A
OR10AD1	121275	genome.wustl.edu	37	12	48596596	48596596	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:48596596G>A	ENST00000310248.2	-	1	574	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AAATATACTCGAGAAAGATGC	0.507																																						dbGAP											0													64.0	56.0	59.0					12																	48596596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.480C>T	12.37:g.48596596G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT9|Q6IFA8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L160	ENST00000310248.2	37	c.480	CCDS31787.1	12																																																																																			OR10AD1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172640		0.507	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AD1	HGNC	protein_coding	OTTHUMT00000397577.1	239	0.00	0	G			48596596	48596596	-1	no_errors	ENST00000310248	ensembl	human	known	69_37n	silent	187	10.95	23	SNP	0.000	A
OR10AG1	282770	genome.wustl.edu	37	11	55735853	55735853	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55735853G>A	ENST00000312345.2	-	1	137	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGCACATCAGGATCATCAAAT	0.333																																						dbGAP											0													42.0	48.0	46.0					11																	55735853		2195	4292	6487	-	-	-	SO:0001819	synonymous_variant	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.87C>T	11.37:g.55735853G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH4|Q6IEU3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I29	ENST00000312345.2	37	c.87	CCDS31514.1	11																																																																																			OR10AG1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000174970		0.333	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	43	0.00	0	G	NM_001005491		55735853	55735853	-1	no_errors	ENST00000312345	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.006	A
OR10C1	442194	genome.wustl.edu	37	6	29407840	29407840	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:29407840C>A	ENST00000444197.2	+	1	758	c.48C>A	c.(46-48)ttC>ttA	p.F16L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCTCGGCTTCTCCCACCTGG	0.507																																						dbGAP											0													145.0	125.0	132.0					6																	29407840		1511	2709	4220	-	-	-	SO:0001583	missense	0				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.48C>A	6.37:g.29407840C>A	ENSP00000419119:p.Phe16Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SUN7|Q96R18	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F16L	ENST00000444197.2	37	c.48	CCDS34364.1	6	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924153	0.52653	.	.	ENSG00000206474	ENST00000444197	T	0.60548	0.18	3.44	1.62	0.23740	.	0.000000	0.36234	U	0.002720	T	0.20333	0.0489	L	0.41710	1.295	0.09310	N	1	P	0.43857	0.819	B	0.39562	0.303	T	0.15780	-1.0425	10	0.44086	T	0.13	.	0.7534	0.00994	0.1667:0.367:0.1626:0.3037	.	16	Q96KK4	O10C1_HUMAN	L	16	ENSP00000419119:F16L	ENSP00000419119:F16L	F	+	3	2	OR10C1	29515819	0.000000	0.05858	0.449000	0.26957	0.276000	0.26787	-0.964000	0.03833	0.276000	0.22118	0.537000	0.68136	TTC	OR10C1	-	NULL	ENSG00000206474		0.507	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10C1	HGNC	protein_coding	OTTHUMT00000076415.2	35	0.00	0	C			29407840	29407840	+1	no_errors	ENST00000444197	ensembl	human	known	69_37n	missense	25	36.59	15	SNP	0.101	A
OR10G3	26533	genome.wustl.edu	37	14	22037946	22037946	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22037946C>T	ENST00000303532.1	-	1	929	c.930G>A	c.(928-930)ccG>ccA	p.P310P		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AAACCTCACTCGGAGTTCTTG	0.448																																						dbGAP											0													42.0	45.0	44.0					14																	22037946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.930G>A	14.37:g.22037946C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IET7|Q96R77	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P310	ENST00000303532.1	37	c.930	CCDS32046.1	14																																																																																			OR10G3	-	NULL	ENSG00000169208		0.448	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G3	HGNC	protein_coding	OTTHUMT00000401521.1	75	0.00	0	C			22037946	22037946	-1	no_errors	ENST00000303532	ensembl	human	known	69_37n	silent	56	15.15	10	SNP	0.005	T
OR10G3	26533	genome.wustl.edu	37	14	22038564	22038564	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22038564G>T	ENST00000303532.1	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GGAAGTGATAGAAATAGAGTT	0.502																																						dbGAP											0													58.0	57.0	57.0					14																	22038564		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.312C>A	14.37:g.22038564G>T	ENSP00000302437:p.Phe104Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IET7|Q96R77	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F104L	ENST00000303532.1	37	c.312	CCDS32046.1	14	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717672	0.48622	.	.	ENSG00000169208	ENST00000303532	T	0.00495	6.99	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.273455	0.26321	N	0.025052	T	0.00496	0.0016	L	0.49778	1.585	0.35658	D	0.812292	P	0.41420	0.749	B	0.32465	0.146	T	0.75631	-0.3251	10	0.54805	T	0.06	-24.4527	15.2134	0.73244	0.0:0.0:1.0:0.0	.	104	Q8NGC4	O10G3_HUMAN	L	104	ENSP00000302437:F104L	ENSP00000302437:F104L	F	-	3	2	OR10G3	21108404	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.229000	0.32600	2.239000	0.73571	0.585000	0.79938	TTC	OR10G3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000169208		0.502	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G3	HGNC	protein_coding	OTTHUMT00000401521.1	104	0.00	0	G			22038564	22038564	-1	no_errors	ENST00000303532	ensembl	human	known	69_37n	missense	89	11.88	12	SNP	1.000	T
OR10H4	126541	genome.wustl.edu	37	19	16059848	16059848	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:16059848G>T	ENST00000322107.1	+	1	31	c.31G>T	c.(31-33)Gaa>Taa	p.E11*		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATCATATCTGAATTTAACCT	0.443																																						dbGAP											0													237.0	207.0	217.0					19																	16059848		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.31G>T	19.37:g.16059848G>T	ENSP00000318834:p.Glu11*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ2|Q96R57	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E11*	ENST00000322107.1	37	c.31	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	g	12.58	1.980648	0.34942	.	.	ENSG00000176231	ENST00000322107	.	.	.	1.53	0.441	0.16577	.	0.000000	0.41500	U	0.000866	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	1.8176	0.03103	0.2283:0.0:0.4403:0.3313	.	.	.	.	X	11	.	ENSP00000318834:E11X	E	+	1	0	OR10H4	15920848	0.899000	0.30636	0.024000	0.17045	0.021000	0.10359	2.121000	0.41977	0.828000	0.34709	0.471000	0.43371	GAA	OR10H4	-	NULL	ENSG00000176231		0.443	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	396	0.00	0	G			16059848	16059848	+1	no_errors	ENST00000322107	ensembl	human	known	69_37n	nonsense	306	27.32	115	SNP	0.065	T
OR10K2	391107	genome.wustl.edu	37	1	158389950	158389950	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:158389950T>G	ENST00000314902.2	-	1	706	c.707A>C	c.(706-708)aAa>aCa	p.K236T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	236						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)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAAAAAGCTTTGCACCTACC	0.458																																						dbGAP											0													135.0	133.0	134.0					1																	158389950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.707A>C	1.37:g.158389950T>G	ENSP00000324251:p.Lys236Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K236T	ENST00000314902.2	37	c.707	CCDS30896.1	1	.	.	.	.	.	.	.	.	.	.	t	12.36	1.915914	0.33815	.	.	ENSG00000180708	ENST00000314902	T	0.00375	7.71	4.06	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000276	T	0.00552	0.0018	M	0.91717	3.235	0.38307	D	0.943136	D	0.76494	0.999	D	0.69654	0.965	T	0.56408	-0.7984	10	0.87932	D	0	.	8.6579	0.34075	0.0:0.0951:0.0:0.9049	.	236	Q6IF99	O10K2_HUMAN	T	236	ENSP00000324251:K236T	ENSP00000324251:K236T	K	-	2	0	OR10K2	156656574	1.000000	0.71417	0.811000	0.32455	0.047000	0.14425	7.255000	0.78338	0.709000	0.31976	0.378000	0.23410	AAA	OR10K2	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180708		0.458	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	439	0.00	0	T	NM_001004476		158389950	158389950	-1	no_errors	ENST00000314902	ensembl	human	known	69_37n	missense	302	14.93	53	SNP	1.000	G
OR10R2	343406	genome.wustl.edu	37	1	158449842	158449842	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:158449842C>A	ENST00000368152.1	+	1	175	c.175C>A	c.(175-177)Ctt>Att	p.L59I	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TCTAGTCATTCTTAGTGGCAA	0.443																																						dbGAP											0													179.0	160.0	166.0					1																	158449842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.175C>A	1.37:g.158449842C>A	ENSP00000357134:p.Leu59Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L59I	ENST00000368152.1	37	c.175	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	c	13.06	2.123741	0.37436	.	.	ENSG00000198965	ENST00000368152	T	0.00561	6.59	4.19	3.27	0.37495	.	.	.	.	.	T	0.00440	0.0014	L	0.60957	1.885	0.27078	N	0.963161	P	0.51933	0.949	P	0.49332	0.607	T	0.51834	-0.8655	9	0.62326	D	0.03	.	11.1004	0.48170	0.0:0.9061:0.0:0.0939	.	59	Q8NGX6	O10R2_HUMAN	I	59	ENSP00000357134:L59I	ENSP00000357134:L59I	L	+	1	0	OR10R2	156716466	0.000000	0.05858	0.287000	0.24848	0.360000	0.29518	-0.357000	0.07651	0.938000	0.37419	0.591000	0.81541	CTT	OR10R2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000198965		0.443	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	438	0.00	0	C	NM_001004472		158449842	158449842	+1	no_errors	ENST00000368152	ensembl	human	known	69_37n	missense	385	13.65	61	SNP	0.992	A
OR10J1	26476	genome.wustl.edu	37	1	159409813	159409813	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:159409813C>A	ENST00000423932.3	+	1	302	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	89					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATTGGTCATTCTCCCAAGAAT	0.458																																						dbGAP											0													116.0	104.0	108.0					1																	159409813		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.265C>A	1.37:g.159409813C>A	ENSP00000399078:p.Leu89Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L89I	ENST00000423932.3	37	c.265	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974238	0.02215	.	.	ENSG00000196184	ENST00000423932	T	0.01787	4.64	3.85	0.364	0.16124	GPCR, rhodopsin-like superfamily (1);	1.752890	0.04110	N	0.314367	T	0.00271	0.0008	N	0.04260	-0.245	0.19300	N	0.999971	B	0.06786	0.001	B	0.06405	0.002	T	0.40496	-0.9560	10	0.08179	T	0.78	.	1.7531	0.02976	0.3701:0.339:0.1808:0.1101	.	89	P30954	O10J1_HUMAN	I	89	ENSP00000399078:L89I	ENSP00000399078:L89I	L	+	1	0	OR10J1	157676437	0.000000	0.05858	0.993000	0.49108	0.980000	0.70556	-2.978000	0.00664	0.317000	0.23160	0.655000	0.94253	CTC	OR10J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000196184		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	96	0.00	0	C	NM_012351		159409813	159409813	+1	no_errors	ENST00000423932	ensembl	human	known	69_37n	missense	99	26.67	36	SNP	0.582	A
OR10S1	219873	genome.wustl.edu	37	11	123848156	123848156	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:123848156G>T	ENST00000531945.1	-	1	332	c.243C>A	c.(241-243)ttC>ttA	p.F81L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGGCATCCAGGAAGGAGAGGT	0.562																																						dbGAP											0													87.0	71.0	76.0					11																	123848156		2202	4299	6501	-	-	-	SO:0001583	missense	0			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.243C>A	11.37:g.123848156G>T	ENSP00000431914:p.Phe81Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F81L	ENST00000531945.1	37	c.243	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316764	0.60524	.	.	ENSG00000196248	ENST00000531945	T	0.00966	5.49	4.84	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.171802	0.27720	U	0.018132	T	0.01061	0.0035	L	0.43598	1.365	0.27174	N	0.960836	B	0.11235	0.004	B	0.13407	0.009	T	0.42582	-0.9443	10	0.36615	T	0.2	-26.3888	6.9202	0.24383	0.1571:0.1427:0.7002:0.0	.	81	Q8NGN2	O10S1_HUMAN	L	81	ENSP00000431914:F81L	ENSP00000431914:F81L	F	-	3	2	OR10S1	123353366	0.001000	0.12720	1.000000	0.80357	0.947000	0.59692	0.004000	0.13106	0.664000	0.31047	-0.155000	0.13514	TTC	OR10S1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196248		0.562	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	366	0.00	0	G	NM_001004474		123848156	123848156	-1	no_errors	ENST00000531945	ensembl	human	known	69_37n	missense	181	29.84	77	SNP	1.000	T
OR11H1	81061	genome.wustl.edu	37	22	16449102	16449102	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:16449102G>T	ENST00000252835.4	-	1	703	c.703C>A	c.(703-705)Ctt>Att	p.L235I		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TTCAGGACAAGAGTATAGGAT	0.418																																						dbGAP											0													141.0	136.0	138.0					22																	16449102		2201	4297	6498	-	-	-	SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.703C>A	22.37:g.16449102G>T	ENSP00000252835:p.Leu235Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L235I	ENST00000252835.4	37	c.703	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	g	5.611	0.297437	0.10622	.	.	ENSG00000130538	ENST00000252835	T	0.00137	8.68	1.73	1.73	0.24493	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37053	N	0.002264	T	0.00300	0.0009	M	0.76838	2.35	0.09310	N	1	D	0.61080	0.989	P	0.61003	0.882	T	0.44174	-0.9345	10	0.46703	T	0.11	.	4.8457	0.13512	0.2164:0.0:0.7836:0.0	.	235	Q8NG94	O11H1_HUMAN	I	235	ENSP00000252835:L235I	ENSP00000252835:L235I	L	-	1	0	OR11H1	14829102	0.000000	0.05858	0.886000	0.34754	0.151000	0.21798	-0.274000	0.08537	0.917000	0.36895	0.368000	0.22195	CTT	OR11H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000130538		0.418	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	545	0.00	0	G	NM_001005239		16449102	16449102	-1	no_errors	ENST00000252835	ensembl	human	known	69_37n	missense	441	24.70	145	SNP	0.001	T
OR11L1	391189	genome.wustl.edu	37	1	248004337	248004337	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:248004337C>T	ENST00000355784.2	-	1	917	c.862G>A	c.(862-864)Gtt>Att	p.V288I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	288						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGTAGATAACTGGGTTCAGC	0.428																																						dbGAP											0													93.0	87.0	89.0					1																	248004337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.862G>A	1.37:g.248004337C>T	ENSP00000348033:p.Val288Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V288I	ENST00000355784.2	37	c.862	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	C	4.697	0.129538	0.08981	.	.	ENSG00000197591	ENST00000355784	T	0.32753	1.44	4.15	0.125	0.14718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31392	U	0.007729	T	0.09291	0.0229	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29701	-1.0003	10	0.14656	T	0.56	.	4.8381	0.13474	0.0:0.3015:0.1678:0.5307	.	288	Q8NGX0	O11L1_HUMAN	I	288	ENSP00000348033:V288I	ENSP00000348033:V288I	V	-	1	0	OR11L1	246070960	0.000000	0.05858	0.178000	0.23040	0.833000	0.47200	-0.821000	0.04452	0.155000	0.19261	0.543000	0.68304	GTT	OR11L1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000197591		0.428	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	173	0.00	0	C	NM_001001959		248004337	248004337	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	182	20.69	48	SNP	0.004	T
OR1L3	26735	genome.wustl.edu	37	9	125437459	125437459	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:125437459C>A	ENST00000304820.2	+	1	145	c.51C>A	c.(49-51)ctC>ctA	p.L17L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCTTGGGACTCTCCTCTCGGT	0.428																																						dbGAP											0													121.0	122.0	121.0					9																	125437459		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.51C>A	9.37:g.125437459C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNF4|Q6IFN1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L17	ENST00000304820.2	37	c.51	CCDS35128.1	9																																																																																			OR1L3	-	NULL	ENSG00000171481		0.428	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L3	HGNC	protein_coding	OTTHUMT00000053950.1	450	0.00	0	C			125437459	125437459	+1	no_errors	ENST00000304820	ensembl	human	known	69_37n	silent	306	13.80	49	SNP	0.663	A
OR1S1	219959	genome.wustl.edu	37	11	57982722	57982722	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:57982722C>T	ENST00000309433.6	+	1	506	c.506C>T	c.(505-507)gCt>gTt	p.A169V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AATATTATTGCTCTGACACAC	0.473																																						dbGAP											0													216.0	193.0	201.0					11																	57982722		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.506C>T	11.37:g.57982722C>T	ENSP00000311688:p.Ala169Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFG3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A169V	ENST00000309433.6	37	c.506	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996962	0.35226	.	.	ENSG00000172774	ENST00000309433	T	0.39997	1.05	3.45	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.141282	0.32473	N	0.006054	T	0.44808	0.1311	L	0.45051	1.395	0.22684	N	0.998858	D	0.53462	0.96	P	0.56751	0.805	T	0.14727	-1.0462	10	0.56958	D	0.05	.	7.1968	0.25858	0.0:0.7849:0.0:0.2151	.	169	Q8NH92	OR1S1_HUMAN	V	169	ENSP00000311688:A169V	ENSP00000311688:A169V	A	+	2	0	OR1S1	57739298	0.000000	0.05858	0.962000	0.40283	0.107000	0.19398	0.307000	0.19296	1.770000	0.52166	0.479000	0.44913	GCT	OR1S1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172774		0.473	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	146	0.00	0	C	NM_001004458		57982722	57982722	+1	no_errors	ENST00000309433	ensembl	human	known	69_37n	missense	155	14.84	27	SNP	0.597	T
OR2A12	346525	genome.wustl.edu	37	7	143792800	143792800	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:143792800G>A	ENST00000408949.2	+	1	660	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCCTATTTGCGGGTTCTGCGT	0.532																																						dbGAP											0													202.0	196.0	198.0					7																	143792800		2020	4185	6205	-	-	-	SO:0001819	synonymous_variant	0				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.600G>A	7.37:g.143792800G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF43	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A200	ENST00000408949.2	37	c.600	CCDS43670.1	7																																																																																			OR2A12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221858		0.532	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	513	0.19	1	G			143792800	143792800	+1	no_errors	ENST00000408949	ensembl	human	known	69_37n	silent	361	27.98	141	SNP	0.000	A
OR2D3	120775	genome.wustl.edu	37	11	6942438	6942438	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6942438C>A	ENST00000317834.3	+	1	234	c.206C>A	c.(205-207)tCt>tAt	p.S69Y		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCCTGGATTCTCGCCTTCAC	0.428																																						dbGAP											0													134.0	129.0	131.0					11																	6942438		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.206C>A	11.37:g.6942438C>A	ENSP00000320560:p.Ser69Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S69Y	ENST00000317834.3	37	c.206	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701142	0.48307	.	.	ENSG00000178358	ENST00000317834	T	0.01106	5.33	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000534	T	0.04952	0.0133	M	0.79258	2.445	0.09310	N	1	P	0.34699	0.464	P	0.50754	0.649	T	0.01492	-1.1341	10	0.66056	D	0.02	-26.074	11.4282	0.50022	0.0:0.9124:0.0:0.0876	.	69	Q8NGH3	OR2D3_HUMAN	Y	69	ENSP00000320560:S69Y	ENSP00000320560:S69Y	S	+	2	0	OR2D3	6899014	0.000000	0.05858	0.021000	0.16686	0.110000	0.19582	-0.278000	0.08490	1.517000	0.48917	0.655000	0.94253	TCT	OR2D3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000178358		0.428	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	282	0.00	0	C	NM_001004684		6942438	6942438	+1	no_errors	ENST00000317834	ensembl	human	known	69_37n	missense	239	14.03	39	SNP	0.003	A
OR2G6	391211	genome.wustl.edu	37	1	248685019	248685019	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:248685019G>T	ENST00000343414.4	+	1	104	c.72G>T	c.(70-72)gaG>gaT	p.E24D		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCAGCTAGAGAGGTTTCTTT	0.463																																						dbGAP											0													182.0	168.0	173.0					1																	248685019		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.72G>T	1.37:g.248685019G>T	ENSP00000341291:p.Glu24Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP33	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E24D	ENST00000343414.4	37	c.72	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	-	13.68	2.310080	0.40895	.	.	ENSG00000188558	ENST00000343414	T	0.00330	8.08	3.83	-0.765	0.11023	.	0.000000	0.44483	U	0.000443	T	0.00356	0.0011	M	0.81942	2.565	0.09310	N	1	D	0.53745	0.962	P	0.47786	0.557	T	0.50800	-0.8785	10	0.87932	D	0	.	4.0683	0.09871	0.4274:0.0:0.4159:0.1566	.	24	Q5TZ20	OR2G6_HUMAN	D	24	ENSP00000341291:E24D	ENSP00000341291:E24D	E	+	3	2	OR2G6	246751642	0.000000	0.05858	0.000000	0.03702	0.623000	0.37688	-0.354000	0.07681	-0.371000	0.08004	0.400000	0.26472	GAG	OR2G6	-	NULL	ENSG00000188558		0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	441	0.00	0	G	XM_372842		248685019	248685019	+1	no_errors	ENST00000343414	ensembl	human	known	69_37n	missense	455	18.46	103	SNP	0.000	T
OR2J1	442185	genome.wustl.edu	37	6	29069408	29069408	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:29069408A>G	ENST00000377171.3	+	1	1023	c.689A>G	c.(688-690)cAa>cGa	p.Q230R				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|lung(6)	7						CTGAGCATGCAATCAACCACT	0.483																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.689A>G	6.37:g.29069408A>G	ENSP00000366376:p.Gln230Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2AAS1|B0V1T2|Q9GZK1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Q230R	ENST00000377171.3	37	c.689		6	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.756066	0.00663	.	.	ENSG00000204702	ENST00000377171	T	0.35789	1.29	2.55	-0.27	0.12926	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39742	-0.9599	6	0.20519	T	0.43	.	6.2564	0.20876	0.3194:0.5571:0.1235:0.0	.	.	.	.	R	230	ENSP00000366376:Q230R	ENSP00000366376:Q230R	Q	+	2	0	OR2J1	29177387	0.000000	0.05858	0.153000	0.22517	0.024000	0.10985	-1.016000	0.03633	-0.157000	0.11059	-0.435000	0.05868	CAA	OR2J1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000204702		0.483	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	117	0.00	0	A	NG_004683		29069408	29069408	+1	no_errors	ENST00000377171	ensembl	human	known	69_37n	missense	82	26.13	29	SNP	0.001	G
OR2K2	26248	genome.wustl.edu	37	9	114090037	114090037	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114090037C>T	ENST00000374428.1	-	1	763	c.764G>A	c.(763-765)aGa>aAa	p.R255K	OR2K2_ENST00000302681.1_Missense_Mutation_p.R226K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TGAGGTGATTCTCAGAATAGT	0.448																																						dbGAP											0													108.0	102.0	104.0					9																	114090037		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.764G>A	9.37:g.114090037C>T	ENSP00000363550:p.Arg255Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R255K	ENST00000374428.1	37	c.764		9	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983333	0.35036	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00193	8.58;8.58	4.55	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.160789	0.28927	U	0.013681	T	0.00210	0.0006	L	0.45744	1.44	0.26596	N	0.973118	B	0.25105	0.118	B	0.35770	0.21	T	0.09443	-1.0674	10	0.20519	T	0.43	.	10.5913	0.45310	0.0:0.9048:0.0:0.0952	.	255	Q8NGT1	OR2K2_HUMAN	K	226;255	ENSP00000305055:R226K;ENSP00000363550:R255K	ENSP00000305055:R226K	R	-	2	0	OR2K2	113129858	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	0.116000	0.15561	1.271000	0.44313	0.591000	0.81541	AGA	OR2K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171133		0.448	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		349	0.00	0	C	NM_205859		114090037	114090037	-1	no_errors	ENST00000374428	ensembl	human	known	69_37n	missense	313	10.29	36	SNP	0.828	T
OR2L3	391192	genome.wustl.edu	37	1	248224539	248224539	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:248224539C>T	ENST00000359959.3	+	1	556	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATGGTGACTCTGGCCTGCAT	0.468																																						dbGAP											0													112.0	137.0	129.0					1																	248224539		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.556C>T	1.37:g.248224539C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH44	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L186	ENST00000359959.3	37	c.556	CCDS31104.1	1																																																																																			OR2L3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000198128		0.468	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	671	0.00	0	C	NM_001004687		248224539	248224539	+1	no_errors	ENST00000359959	ensembl	human	known	69_37n	silent	470	39.82	313	SNP	0.037	T
OR2M4	26245	genome.wustl.edu	37	1	248402650	248402650	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:248402650C>T	ENST00000306687.1	+	1	420	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	140					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCCGAAACTCTGTGTCTTCA	0.473																																						dbGAP											0													162.0	137.0	145.0					1																	248402650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.420C>T	1.37:g.248402650C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15611|Q8NG82	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L140	ENST00000306687.1	37	c.420	CCDS31108.1	1																																																																																			OR2M4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000171180		0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	243	0.00	0	C	NM_017504		248402650	248402650	+1	no_errors	ENST00000306687	ensembl	human	known	69_37n	silent	294	23.64	91	SNP	0.000	T
OR2T10	127069	genome.wustl.edu	37	1	248756561	248756561	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:248756561C>A	ENST00000330500.2	-	1	539	c.509G>T	c.(508-510)aGa>aTa	p.R170I	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGGGATCTGCAGAAGGG	0.507																																						dbGAP											0													97.0	107.0	104.0					1																	248756561		2045	4232	6277	-	-	-	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.509G>T	1.37:g.248756561C>A	ENSP00000329210:p.Arg170Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R170I	ENST00000330500.2	37	c.509	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	8.524	0.869384	0.17322	.	.	ENSG00000184022	ENST00000330500	T	0.37058	1.22	2.35	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36963	0.0986	M	0.64676	1.99	0.09310	N	1	B	0.27140	0.169	B	0.35727	0.209	T	0.44112	-0.9349	9	0.72032	D	0.01	.	5.9493	0.19237	0.0:0.7131:0.0:0.2869	.	170	Q8NGZ9	O2T10_HUMAN	I	170	ENSP00000329210:R170I	ENSP00000329210:R170I	R	-	2	0	OR2T10	246823184	0.000000	0.05858	0.665000	0.29768	0.400000	0.30750	-0.097000	0.11042	1.123000	0.41961	0.447000	0.29281	AGA	OR2T10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184022		0.507	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	115	0.00	0	C	NM_001004693		248756561	248756561	-1	no_errors	ENST00000330500	ensembl	human	known	69_37n	missense	46	51.58	49	SNP	0.049	A
OR3A4P	390756	genome.wustl.edu	37	17	3214098	3214098	+	RNA	SNP	C	C	T	rs531978088	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:3214098C>T	ENST00000573491.1	-	0	359																											CAAACTGTTGCCCTGTCTCCT	0.532													C|||	5	0.000998403	0.0	0.0	5008	,	,		22167	0.0		0.0	False		,,,				2504	0.0051					dbGAP											0													175.0	177.0	176.0					17																	3214098		2203	4300	6503	-	-	-			0																															17.37:g.3214098C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000573491.1	37	NULL		17																																																																																			OR3A4P	-	-	ENSG00000180068		0.532	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	OR3A4P	HGNC	sense_overlapping	OTTHUMT00000438371.1	335	0.00	0	C			3214098	3214098	+1	no_errors	ENST00000323164	ensembl	human	known	69_37n	rna	177	16.51	35	SNP	0.007	T
OR3A4P	390756	genome.wustl.edu	37	17	3214293	3214293	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:3214293G>A	ENST00000573491.1	-	0	359																											GCAGTCCTGCGAATCCGCTCT	0.562																																						dbGAP											0													117.0	103.0	108.0					17																	3214293		2203	4300	6503	-	-	-			0																															17.37:g.3214293G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000573491.1	37	NULL		17																																																																																			OR3A4P	-	-	ENSG00000180068		0.562	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	OR3A4P	HGNC	sense_overlapping	OTTHUMT00000438371.1	304	0.33	1	G			3214293	3214293	+1	no_errors	ENST00000323164	ensembl	human	known	69_37n	rna	109	35.50	60	SNP	0.000	A
OR4A15	81328	genome.wustl.edu	37	11	55135707	55135707	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55135707G>A	ENST00000314706.3	+	1	348	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGCTCTCTGAGAAAAAGACCA	0.398																																						dbGAP											0													149.0	148.0	149.0					11																	55135707		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.348G>A	11.37:g.55135707G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL4|Q96R65	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.E116	ENST00000314706.3	37	c.348	CCDS31500.1	11																																																																																			OR4A15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181958		0.398	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	181	0.00	0	G	NM_001005275		55135707	55135707	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	silent	145	12.12	20	SNP	0.074	A
OR4C15	81309	genome.wustl.edu	37	11	55322215	55322215	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55322215A>G	ENST00000314644.2	+	1	433	c.433A>G	c.(433-435)Atc>Gtc	p.I145V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACAAAAACCATCTCTTTTGA	0.478										HNSCC(20;0.049)																												dbGAP											0													157.0	138.0	145.0					11																	55322215		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.433A>G	11.37:g.55322215A>G	ENSP00000324958:p.Ile145Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I145V	ENST00000314644.2	37	c.433	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432463	0.43224	.	.	ENSG00000181939	ENST00000314644	T	0.02606	4.23	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11580	0.0282	M	0.86805	2.84	0.24605	N	0.993752	P	0.45768	0.866	P	0.49012	0.598	T	0.04607	-1.0939	9	0.72032	D	0.01	.	12.9048	0.58145	1.0:0.0:0.0:0.0	.	91	Q8NGM1	OR4CF_HUMAN	V	145	ENSP00000324958:I145V	ENSP00000324958:I145V	I	+	1	0	OR4C15	55078791	0.999000	0.42202	0.996000	0.52242	0.256000	0.26092	4.189000	0.58358	2.152000	0.67230	0.317000	0.21355	ATC	OR4C15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181939		0.478	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	297	0.00	0	A	NM_001001920		55322215	55322215	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	missense	157	25.12	53	SNP	0.988	G
OR4C15	81309	genome.wustl.edu	37	11	55322697	55322697	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55322697C>T	ENST00000314644.2	+	1	915	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTTCTTTGTCCCATGCATAT	0.423										HNSCC(20;0.049)																												dbGAP											0													241.0	235.0	237.0					11																	55322697		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.915C>T	11.37:g.55322697C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V305	ENST00000314644.2	37	c.915	CCDS31501.1	11																																																																																			OR4C15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181939		0.423	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	1135	0.00	0	C	NM_001001920		55322697	55322697	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	silent	625	11.72	83	SNP	0.050	T
OR4D1	26689	genome.wustl.edu	37	17	56232787	56232787	+	Silent	SNP	G	G	A	rs17222013		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:56232787G>A	ENST00000268912.5	+	1	294	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	91					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGACCAAGACGATCTCCTACC	0.498																																						dbGAP											0													126.0	128.0	127.0					17																	56232787		2169	4284	6453	-	-	-	SO:0001819	synonymous_variant	0			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.273G>A	17.37:g.56232787G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN14|Q8NGB1|Q96R76	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T91	ENST00000268912.5	37	c.273	CCDS42365.1	17																																																																																			OR4D1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000141194		0.498	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D1	HGNC	protein_coding	OTTHUMT00000443364.1	236	0.42	1	G			56232787	56232787	+1	no_errors	ENST00000268912	ensembl	human	known	69_37n	silent	138	13.75	22	SNP	0.021	A
OR4D10	390197	genome.wustl.edu	37	11	59245287	59245287	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59245287C>T	ENST00000530162.1	+	1	442	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCTCCAAGCCCCTGCACTA	0.498																																						dbGAP											0													89.0	91.0	91.0					11																	59245287		2194	4294	6488	-	-	-	SO:0001583	missense	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.385C>T	11.37:g.59245287C>T	ENSP00000436424:p.Pro129Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P129S	ENST00000530162.1	37	c.385	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440080	0.43326	.	.	ENSG00000254466	ENST00000530162	T	0.01838	4.61	4.71	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11836	0.0288	H	0.98883	4.36	0.35317	D	0.784463	P	0.46220	0.874	P	0.44696	0.458	T	0.28870	-1.0030	9	0.87932	D	0	.	9.7698	0.40582	0.0:0.8282:0.0:0.1718	.	129	Q8NGI6	OR4DA_HUMAN	S	129	ENSP00000436424:P129S	ENSP00000436424:P129S	P	+	1	0	OR4D10	59001863	1.000000	0.71417	0.992000	0.48379	0.174000	0.22865	7.743000	0.85020	0.520000	0.28426	0.655000	0.94253	CCC	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000254466		0.498	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	269	0.37	1	C	NM_001004705		59245287	59245287	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	missense	182	12.02	25	SNP	0.997	T
OR4D10	390197	genome.wustl.edu	37	11	59245300	59245300	+	Missense_Mutation	SNP	C	C	T	rs556173099		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59245300C>T	ENST00000530162.1	+	1	455	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCACTATGCGACTATCATG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19664	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													91.0	94.0	93.0					11																	59245300		2197	4294	6491	-	-	-	SO:0001583	missense	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.398C>T	11.37:g.59245300C>T	ENSP00000436424:p.Ala133Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A133V	ENST00000530162.1	37	c.398	CCDS53636.1	11	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.149773	0.00328	.	.	ENSG00000254466	ENST00000530162	T	0.00912	5.55	4.71	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45454	-0.9260	9	0.02654	T	1	.	5.1086	0.14796	0.0:0.1731:0.155:0.6719	.	133	Q8NGI6	OR4DA_HUMAN	V	133	ENSP00000436424:A133V	ENSP00000436424:A133V	A	+	2	0	OR4D10	59001876	0.000000	0.05858	0.806000	0.32338	0.077000	0.17291	-0.883000	0.04170	0.230000	0.21059	-0.290000	0.09829	GCG	OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000254466		0.512	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	288	0.35	1	C	NM_001004705		59245300	59245300	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	missense	193	13.45	30	SNP	0.023	T
OR4D10	390197	genome.wustl.edu	37	11	59245562	59245562	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59245562C>A	ENST00000530162.1	+	1	717	c.660C>A	c.(658-660)gtC>gtA	p.V220V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTACATAGTCATATTATCAT	0.488																																						dbGAP											0													81.0	79.0	80.0					11																	59245562		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.660C>A	11.37:g.59245562C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V220	ENST00000530162.1	37	c.660	CCDS53636.1	11																																																																																			OR4D10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000254466		0.488	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	167	0.00	0	C	NM_001004705		59245562	59245562	+1	no_errors	ENST00000530162	ensembl	human	known	69_37n	silent	141	13.50	22	SNP	0.986	A
OR4K1	79544	genome.wustl.edu	37	14	20403974	20403974	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20403974C>A	ENST00000285600.4	+	1	208	c.149C>A	c.(148-150)tCt>tAt	p.S50Y		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCATTATTTCTTTTGACTCC	0.373																																						dbGAP											0													327.0	345.0	339.0					14																	20403974		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.149C>A	14.37:g.20403974C>A	ENSP00000285600:p.Ser50Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S50Y	ENST00000285600.4	37	c.149	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	4.137	0.023832	0.08006	.	.	ENSG00000155249	ENST00000285600	T	0.01043	5.41	4.77	0.682	0.17992	GPCR, rhodopsin-like superfamily (1);	0.600012	0.15160	N	0.277230	T	0.00875	0.0029	N	0.19112	0.55	0.09310	N	1	B	0.17268	0.021	B	0.20184	0.028	T	0.47661	-0.9100	10	0.52906	T	0.07	.	3.6354	0.08147	0.1694:0.4587:0.0:0.3719	.	50	Q8NGD4	OR4K1_HUMAN	Y	50	ENSP00000285600:S50Y	ENSP00000285600:S50Y	S	+	2	0	OR4K1	19473814	0.000000	0.05858	0.028000	0.17463	0.310000	0.27922	-1.181000	0.03085	0.209000	0.20645	0.561000	0.74099	TCT	OR4K1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000155249		0.373	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	777	0.13	1	C			20403974	20403974	+1	no_errors	ENST00000285600	ensembl	human	known	69_37n	missense	595	14.63	102	SNP	0.000	A
OR4K15	81127	genome.wustl.edu	37	14	20443973	20443973	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20443973C>A	ENST00000305051.5	+	1	371	c.296C>A	c.(295-297)tCt>tAt	p.S99Y		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCCTCTTTTGCTACC	0.443																																						dbGAP											0													126.0	136.0	132.0					14																	20443973		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.296C>A	14.37:g.20443973C>A	ENSP00000304077:p.Ser99Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIL3|Q6IEZ4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S99Y	ENST00000305051.5	37	c.296	CCDS32026.1	14	.	.	.	.	.	.	.	.	.	.	.	14.91	2.676425	0.47886	.	.	ENSG00000169488	ENST00000305051	T	0.00408	7.54	3.6	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000126	T	0.01730	0.0055	H	0.98487	4.245	0.09310	N	1	P	0.48640	0.913	P	0.54924	0.764	T	0.07597	-1.0764	10	0.87932	D	0	.	12.7502	0.57304	0.0:1.0:0.0:0.0	.	99	Q8NH41	OR4KF_HUMAN	Y	99	ENSP00000304077:S99Y	ENSP00000304077:S99Y	S	+	2	0	OR4K15	19513813	0.006000	0.16342	0.922000	0.36590	0.816000	0.46133	2.119000	0.41958	1.830000	0.53286	0.585000	0.79938	TCT	OR4K15	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000169488		0.443	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K15	HGNC	protein_coding	OTTHUMT00000409883.1	381	0.26	1	C			20443973	20443973	+1	no_errors	ENST00000305051	ensembl	human	known	69_37n	missense	245	16.67	49	SNP	0.009	A
OR4M1	441670	genome.wustl.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20248603G>T	ENST00000315957.4	+	1	203	c.122G>T	c.(121-123)gGa>gTa	p.G41V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423																																						dbGAP											1	Substitution - Missense(1)	lung(1)											250.0	266.0	261.0					14																	20248603		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.122G>T	14.37:g.20248603G>T	ENSP00000319654:p.Gly41Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.G41V	ENST00000315957.4	37	c.122	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	5.423	0.263217	0.10294	.	.	ENSG00000176299	ENST00000315957	T	0.04406	3.63	4.2	0.628	0.17681	GPCR, rhodopsin-like superfamily (1);	0.491318	0.17157	N	0.184837	T	0.14356	0.0347	H	0.96365	3.81	0.44067	D	0.99681	B	0.11235	0.004	B	0.12837	0.008	T	0.05289	-1.0894	10	0.72032	D	0.01	-0.3097	11.2906	0.49247	0.0:0.0:0.4244:0.5756	.	41	Q8NGD0	OR4M1_HUMAN	V	41	ENSP00000319654:G41V	ENSP00000319654:G41V	G	+	2	0	OR4M1	19318443	0.004000	0.15560	0.993000	0.49108	0.177000	0.22998	0.131000	0.15870	-0.002000	0.14469	0.401000	0.26515	GGA	OR4M1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176299		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	812	0.12	1	G			20248603	20248603	+1	no_errors	ENST00000315957	ensembl	human	known	69_37n	missense	637	17.81	138	SNP	0.966	T
OR4K2	390431	genome.wustl.edu	37	14	20344960	20344960	+	Missense_Mutation	SNP	C	C	A	rs267603914		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20344960C>A	ENST00000298642.2	+	1	570	c.534C>A	c.(532-534)ttC>ttA	p.F178L		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGCTTTTTCTGTGACCTTC	0.448																																						dbGAP											0													429.0	422.0	424.0					14																	20344960		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.534C>A	14.37:g.20344960C>A	ENSP00000298642:p.Phe178Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F178L	ENST00000298642.2	37	c.534	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	15.49	2.849894	0.51270	.	.	ENSG00000165762	ENST00000298642	T	0.00220	8.52	5.12	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00328	0.0010	M	0.77103	2.36	0.34853	D	0.741886	B	0.26041	0.14	B	0.43575	0.424	T	0.48375	-0.9041	10	0.72032	D	0.01	.	7.2233	0.26002	0.0:0.6473:0.0:0.3527	.	178	Q8NGD2	OR4K2_HUMAN	L	178	ENSP00000298642:F178L	ENSP00000298642:F178L	F	+	3	2	OR4K2	19414800	0.972000	0.33761	1.000000	0.80357	0.975000	0.68041	0.340000	0.19892	0.751000	0.32900	-0.244000	0.11960	TTC	OR4K2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000165762		0.448	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	315	0.00	0	C			20344960	20344960	+1	no_errors	ENST00000298642	ensembl	human	known	69_37n	missense	265	17.19	55	SNP	1.000	A
OR4K17	390436	genome.wustl.edu	37	14	20585936	20585936	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20585936C>A	ENST00000315543.4	+	1	371	c.371C>A	c.(370-372)tCt>tAt	p.S124Y		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAGGTAATTTCTTTTGCTGGG	0.408																																						dbGAP											0													112.0	115.0	114.0					14																	20585936		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.371C>A	14.37:g.20585936C>A	ENSP00000319197:p.Ser124Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF12	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S124Y	ENST00000315543.4	37	c.371	CCDS32030.1	14	.	.	.	.	.	.	.	.	.	.	.	10.91	1.485074	0.26598	.	.	ENSG00000176230	ENST00000315543	T	0.00745	5.75	2.86	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33670	U	0.004671	T	0.05547	0.0146	M	0.93150	3.385	0.23010	N	0.99843	D	0.89917	1.0	D	0.83275	0.996	T	0.04307	-1.0961	10	0.87932	D	0	.	9.9669	0.41730	0.2051:0.7949:0.0:0.0	.	96	Q8NGC6	OR4KH_HUMAN	Y	124	ENSP00000319197:S124Y	ENSP00000319197:S124Y	S	+	2	0	OR4K17	19655776	0.000000	0.05858	0.827000	0.32855	0.314000	0.28054	0.882000	0.28186	0.482000	0.27582	0.404000	0.27445	TCT	OR4K17	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000176230		0.408	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K17	HGNC	protein_coding	OTTHUMT00000410346.1	251	0.00	0	C			20585936	20585936	+1	no_errors	ENST00000315543	ensembl	human	known	69_37n	missense	202	12.55	29	SNP	0.718	A
OR4N4	283694	genome.wustl.edu	37	15	22382602	22382602	+	Missense_Mutation	SNP	C	C	T	rs267604129		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:22382602C>T	ENST00000328795.4	+	1	221	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGAAATTTTCTCATTATTTT	0.433																																						dbGAP											0													198.0	197.0	198.0					15																	22382602		2194	4281	6475	-	-	-	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.130C>T	15.37:g.22382602C>T	ENSP00000332500:p.Leu44Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L44F	ENST00000328795.4	37	c.130	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	2.983	-0.209776	0.06140	.	.	ENSG00000183706	ENST00000328795	T	0.02787	4.16	3.24	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000595	T	0.05410	0.0143	M	0.85041	2.73	0.26406	N	0.976343	B	0.29671	0.254	B	0.33392	0.163	T	0.23084	-1.0198	10	0.72032	D	0.01	-6.505	3.4048	0.07336	0.2042:0.5695:0.0:0.2263	.	44	Q8N0Y3	OR4N4_HUMAN	F	44	ENSP00000332500:L44F	ENSP00000332500:L44F	L	+	1	0	OR4N4	19883966	0.000000	0.05858	0.999000	0.59377	0.024000	0.10985	-0.611000	0.05622	0.168000	0.19655	0.195000	0.17529	CTC	OR4N4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183706		0.433	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	276	0.00	0	C			22382602	22382602	+1	no_errors	ENST00000328795	ensembl	human	known	69_37n	missense	224	10.76	27	SNP	0.795	T
OR4Q3	441669	genome.wustl.edu	37	14	20216514	20216514	+	Missense_Mutation	SNP	C	C	A	rs200474787		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20216514C>A	ENST00000331723.1	+	1	928	c.928C>A	c.(928-930)Cca>Aca	p.P310T		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGTGGCATTCCATTGCCTTG	0.398																																						dbGAP											0													67.0	64.0	65.0					14																	20216514		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.928C>A	14.37:g.20216514C>A	ENSP00000330049:p.Pro310Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEX4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P310T	ENST00000331723.1	37	c.928	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	7.595	0.671620	0.14776	.	.	ENSG00000182652	ENST00000331723	T	0.05199	3.48	3.7	0.733	0.18289	.	504.859000	0.00841	U	0.001749	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.18263	0.021	T	0.35968	-0.9767	10	0.15066	T	0.55	.	3.114	0.06369	0.3658:0.4215:0.0:0.2127	.	310	Q8NH05	OR4Q3_HUMAN	T	310	ENSP00000330049:P310T	ENSP00000330049:P310T	P	+	1	0	OR4Q3	19286354	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.165000	0.09968	0.149000	0.19098	0.502000	0.49764	CCA	OR4Q3	-	NULL	ENSG00000182652		0.398	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	275	0.00	0	C			20216514	20216514	+1	no_errors	ENST00000331723	ensembl	human	known	69_37n	missense	206	21.37	56	SNP	0.000	A
OR52M1	119772	genome.wustl.edu	37	11	4567217	4567217	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4567217G>A	ENST00000360213.1	+	1	797	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGATTCACCGATTTGGTCAG	0.507																																						dbGAP											0													248.0	211.0	223.0					11																	4567217		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.797G>A	11.37:g.4567217G>A	ENSP00000353343:p.Arg266Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R266Q	ENST00000360213.1	37	c.797	CCDS31353.1	11	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398670	0.62177	.	.	ENSG00000197790	ENST00000360213	T	0.37058	1.22	4.91	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39687	N	0.001290	T	0.56659	0.2000	M	0.91663	3.23	0.09310	N	1	D	0.63880	0.993	P	0.56278	0.795	T	0.53358	-0.8450	10	0.87932	D	0	.	8.2731	0.31855	0.1374:0.1274:0.7352:0.0	.	266	Q8NGK5	O52M1_HUMAN	Q	266	ENSP00000353343:R266Q	ENSP00000353343:R266Q	R	+	2	0	OR52M1	4523793	0.000000	0.05858	0.474000	0.27266	0.848000	0.48234	0.699000	0.25586	0.323000	0.23307	0.655000	0.94253	CGA	OR52M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197790		0.507	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52M1	HGNC	protein_coding	OTTHUMT00000385847.1	943	0.11	1	G	NM_001004137		4567217	4567217	+1	no_errors	ENST00000360213	ensembl	human	known	69_37n	missense	631	12.79	93	SNP	0.001	A
OR52I1	390037	genome.wustl.edu	37	11	4615427	4615427	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4615427C>A	ENST00000530443.2	+	1	159	c.159C>A	c.(157-159)atC>atA	p.I53I	OR52I1_ENST00000450052.2_Silent_p.I77I	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACTGCAATCTGGATGGATT	0.507																																						dbGAP											0													174.0	142.0	153.0					11																	4615427		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.159C>A	11.37:g.4615427C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF91	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I53	ENST00000530443.2	37	c.159	CCDS59223.1	11																																																																																			OR52I1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000232268		0.507	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I1	HGNC	protein_coding	OTTHUMT00000385947.2	397	0.00	0	C	NM_001005169		4615427	4615427	+1	no_stop_codon	ENST00000530443	ensembl	human	putative	69_37n	silent	294	19.67	72	SNP	1.000	A
OR51F1	256892	genome.wustl.edu	37	11	4790832	4790833	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4790832_4790833insA	ENST00000380383.1	-	1	335_336	c.336_337insT	c.(334-339)tttcttfs	p.L113fs	OR51F1_ENST00000343430.3_Frame_Shift_Ins_p.L106fs|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AATCCATGAAGAAAAAACATCT	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.337dupT	11.37:g.4790838_4790838dupA	ENSP00000369744:p.Leu113fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L112fs	ENST00000380383.1	37	c.337_336		11																																																																																			OR51F1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000188069		0.441	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		170	0.00	0	-	NM_001004752		4790832	4790833	-1	no_errors	ENST00000380383	ensembl	human	known	69_37n	frame_shift_ins	134	12.99	20	INS	0.994:0.992	A
OR51F2	119694	genome.wustl.edu	37	11	4842941	4842941	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4842941A>G	ENST00000322110.5	+	1	391	c.326A>G	c.(325-327)aAt>aGt	p.N109S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAACCTAAATGCCTGCATT	0.473																																						dbGAP											0													166.0	150.0	156.0					11																	4842941		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.326A>G	11.37:g.4842941A>G	ENSP00000323952:p.Asn109Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFI1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N109S	ENST00000322110.5	37	c.326	CCDS31361.1	11	.	.	.	.	.	.	.	.	.	.	A	1.525	-0.545763	0.04024	.	.	ENSG00000176925	ENST00000322110	T	0.01572	4.76	4.43	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.405216	0.17997	U	0.155003	T	0.01558	0.0050	L	0.31420	0.93	0.09310	N	1	B	0.16396	0.017	B	0.15484	0.013	T	0.46317	-0.9200	10	0.39692	T	0.17	.	4.7104	0.12870	0.741:0.0:0.0921:0.1668	.	109	Q8NH61	O51F2_HUMAN	S	109	ENSP00000323952:N109S	ENSP00000323952:N109S	N	+	2	0	OR51F2	4799517	0.000000	0.05858	0.646000	0.29493	0.089000	0.18198	0.153000	0.16323	0.852000	0.35287	0.459000	0.35465	AAT	OR51F2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000176925		0.473	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	347	0.00	0	A	NM_001004753		4842941	4842941	+1	no_errors	ENST00000322110	ensembl	human	known	69_37n	missense	286	13.60	45	SNP	0.001	G
OR51F2	119694	genome.wustl.edu	37	11	4842984	4842984	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4842984C>A	ENST00000322110.5	+	1	434	c.369C>A	c.(367-369)ttC>ttA	p.F123L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTTACTTTCATGGAGTCTG	0.468																																						dbGAP											0													197.0	173.0	181.0					11																	4842984		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.369C>A	11.37:g.4842984C>A	ENSP00000323952:p.Phe123Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFI1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F123L	ENST00000322110.5	37	c.369	CCDS31361.1	11	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334454	0.24253	.	.	ENSG00000176925	ENST00000322110	T	0.02916	4.11	4.43	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.418997	0.17604	U	0.168313	T	0.02012	0.0063	N	0.25060	0.705	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.48387	-0.9040	10	0.20519	T	0.43	.	6.8296	0.23902	0.0:0.6761:0.1414:0.1826	.	123	Q8NH61	O51F2_HUMAN	L	123	ENSP00000323952:F123L	ENSP00000323952:F123L	F	+	3	2	OR51F2	4799560	0.000000	0.05858	0.991000	0.47740	0.951000	0.60555	0.043000	0.13971	0.111000	0.17947	0.561000	0.74099	TTC	OR51F2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176925		0.468	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	325	0.31	1	C	NM_001004753		4842984	4842984	+1	no_errors	ENST00000322110	ensembl	human	known	69_37n	missense	230	25.57	79	SNP	0.001	A
OR52A4	390053	genome.wustl.edu	37	11	5142766	5142767	+	RNA	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5142766_5142767insA	ENST00000498233.1	-	0	631_632							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATGTCAGCACAAAAGGCATGA	0.426																																						dbGAP											0																																										-	-	-			0					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142770_5142770dupA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000498233.1	37	NULL		11																																																																																			OR52A4	-	-	ENSG00000205494		0.426	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	217	0.00	0	-	NG_029079		5142766	5142767	-1	no_errors	ENST00000481634	ensembl	human	known	69_37n	rna	131	13.25	20	INS	0.001:0.001	A
OR52A5	390054	genome.wustl.edu	37	11	5153163	5153163	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5153163C>T	ENST00000307388.1	-	1	709	c.710G>A	c.(709-711)cGa>cAa	p.R237Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	237					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCTTGAATCGTGCCTCCTT	0.413																																						dbGAP											0													109.0	99.0	102.0					11																	5153163		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.710G>A	11.37:g.5153163C>T	ENSP00000303469:p.Arg237Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R237Q	ENST00000307388.1	37	c.710	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870837	0.33069	.	.	ENSG00000171944	ENST00000307388	T	0.00311	8.15	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40385	N	0.001108	T	0.00552	0.0018	M	0.70842	2.15	0.09310	N	1	D	0.71674	0.998	D	0.65773	0.938	T	0.55315	-0.8160	10	0.52906	T	0.07	.	11.7958	0.52100	0.0:0.9161:0.0:0.0839	.	237	Q9H2C5	O52A5_HUMAN	Q	237	ENSP00000303469:R237Q	ENSP00000303469:R237Q	R	-	2	0	OR52A5	5109739	0.004000	0.15560	0.259000	0.24435	0.085000	0.17905	1.956000	0.40382	2.707000	0.92482	0.655000	0.94253	CGA	OR52A5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171944		0.413	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	236	0.84	2	C	NM_001005160		5153163	5153163	-1	no_errors	ENST00000307388	ensembl	human	known	69_37n	missense	175	11.11	22	SNP	0.002	T
OR52A5	390054	genome.wustl.edu	37	11	5153475	5153475	+	Missense_Mutation	SNP	C	C	A	rs538295981	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5153475C>A	ENST00000307388.1	-	1	397	c.398G>T	c.(397-399)aGa>aTa	p.R133I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	133					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTGGCATGTCTCAAGGGGAT	0.463																																						dbGAP											0													71.0	62.0	65.0					11																	5153475		2201	4298	6499	-	-	-	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.398G>T	11.37:g.5153475C>A	ENSP00000303469:p.Arg133Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R133I	ENST00000307388.1	37	c.398	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170733	0.57584	.	.	ENSG00000171944	ENST00000307388	T	0.00424	7.45	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.01870	0.0059	M	0.93678	3.445	0.54753	D	0.999989	D	0.67145	0.996	D	0.67900	0.954	T	0.40251	-0.9573	10	0.87932	D	0	.	17.5151	0.87771	0.0:1.0:0.0:0.0	.	133	Q9H2C5	O52A5_HUMAN	I	133	ENSP00000303469:R133I	ENSP00000303469:R133I	R	-	2	0	OR52A5	5110051	0.005000	0.15991	1.000000	0.80357	0.298000	0.27526	2.136000	0.42121	2.707000	0.92482	0.655000	0.94253	AGA	OR52A5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000171944		0.463	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	171	0.58	1	C	NM_001005160		5153475	5153475	-1	no_errors	ENST00000307388	ensembl	human	known	69_37n	missense	122	13.38	19	SNP	1.000	A
OR51B4	79339	genome.wustl.edu	37	11	5322607	5322607	+	Silent	SNP	C	C	T	rs116689629		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5322607C>T	ENST00000380224.1	-	1	619	c.570G>A	c.(568-570)acG>acA	p.T190T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	190					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATTAAACGTGATATCAG	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23857	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													84.0	82.0	83.0					11																	5322607		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.570G>A	11.37:g.5322607C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAV5|Q6NTD7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T190	ENST00000380224.1	37	c.570	CCDS7757.1	11																																																																																			OR51B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183251		0.383	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	159	0.00	0	C	NM_033179		5322607	5322607	-1	no_errors	ENST00000380224	ensembl	human	known	69_37n	silent	94	12.04	13	SNP	0.588	T
OR51B5	282763	genome.wustl.edu	37	11	5364241	5364241	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5364241G>T	ENST00000300773.2	-	1	568	c.514C>A	c.(514-516)Ctt>Att	p.L172I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	172					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGTGAAAGAACATGGGAG	0.458																																						dbGAP											0													83.0	90.0	88.0					11																	5364241		2201	4297	6498	-	-	-	SO:0001583	missense	0			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.514C>A	11.37:g.5364241G>T	ENSP00000300773:p.Leu172Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L172I	ENST00000300773.2	37	c.514	CCDS31378.1	11	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205027	0.58234	.	.	ENSG00000242180	ENST00000300773	T	0.00029	8.91	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	N	0.002180	T	0.00144	0.0004	N	0.16862	0.45	0.32106	N	0.589984	P	0.50156	0.932	P	0.50934	0.654	T	0.82645	-0.0355	10	0.62326	D	0.03	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	172	Q9H339	O51B5_HUMAN	I	172	ENSP00000300773:L172I	ENSP00000300773:L172I	L	-	1	0	OR51B5	5320817	0.203000	0.23435	0.629000	0.29254	0.392000	0.30506	0.943000	0.29030	2.493000	0.84123	0.650000	0.86243	CTT	OR51B5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000242180		0.458	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	150	0.00	0	G	NM_001005567		5364241	5364241	-1	no_errors	ENST00000300773	ensembl	human	known	69_37n	missense	64	28.89	26	SNP	0.869	T
OR51B5	282763	genome.wustl.edu	37	11	5364632	5364632	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5364632G>A	ENST00000300773.2	-	1	177	c.123C>T	c.(121-123)ggC>ggT	p.G41G	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	41					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGAGGGTGCCATTGCCAA	0.473																																						dbGAP											0													64.0	69.0	67.0					11																	5364632		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.123C>T	11.37:g.5364632G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN59	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G41	ENST00000300773.2	37	c.123	CCDS31378.1	11																																																																																			OR51B5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000242180		0.473	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	239	0.00	0	G	NM_001005567		5364632	5364632	-1	no_errors	ENST00000300773	ensembl	human	known	69_37n	silent	163	14.21	27	SNP	0.458	A
OR51B6	390058	genome.wustl.edu	37	11	5373338	5373338	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5373338T>G	ENST00000380219.1	+	1	601	c.601T>G	c.(601-603)Tta>Gta	p.L201V	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	201					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTGTAGTTTTATTTGCAAT	0.438																																						dbGAP											0													246.0	220.0	229.0					11																	5373338		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.601T>G	11.37:g.5373338T>G	ENSP00000369568:p.Leu201Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.L201V	ENST00000380219.1	37	c.601	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.277157	0.00254	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.37752	1.18	5.15	1.09	0.20402	GPCR, rhodopsin-like superfamily (1);	0.278816	0.25205	N	0.032341	T	0.06826	0.0174	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	10	0.02654	T	1	.	2.5157	0.04667	0.1493:0.1237:0.4652:0.2618	.	201	Q9H340	O51B6_HUMAN	V	200;201	ENSP00000369568:L201V	ENSP00000369568:L201V	L	+	1	2	OR51B6	5329914	0.000000	0.05858	0.905000	0.35620	0.268000	0.26511	0.239000	0.18023	0.054000	0.16065	-0.294000	0.09567	TTA	OR51B6	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176239		0.438	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	HGNC	protein_coding	OTTHUMT00000142960.1	704	0.14	1	T	NM_001004750		5373338	5373338	+1	no_errors	ENST00000380219	ensembl	human	known	69_37n	missense	551	13.77	88	SNP	0.078	G
OR51M1	390059	genome.wustl.edu	37	11	5411313	5411313	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5411313T>C	ENST00000328611.3	+	1	707	c.685T>C	c.(685-687)Tcc>Ccc	p.S229P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	229					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCGCACTGTCCTATGGACT	0.537																																						dbGAP											0													131.0	127.0	128.0					11																	5411313		2081	4200	6281	-	-	-	SO:0001583	missense	0			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.685T>C	11.37:g.5411313T>C	ENSP00000333196:p.Ser229Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF80	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S229P	ENST00000328611.3	37	c.685	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810604	0.50421	.	.	ENSG00000184698	ENST00000328611	T	0.46819	0.86	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	U	0.004660	T	0.80292	0.4596	H	0.98612	4.28	0.36619	D	0.875673	D	0.89917	1.0	D	0.97110	1.0	D	0.89882	0.4031	10	0.87932	D	0	.	13.6988	0.62595	0.0:0.0:0.0:1.0	.	218	Q9H341	O51M1_HUMAN	P	229	ENSP00000333196:S229P	ENSP00000333196:S229P	S	+	1	0	OR51M1	5367889	0.969000	0.33509	0.249000	0.24280	0.397000	0.30659	2.072000	0.41510	2.114000	0.64651	0.533000	0.62120	TCC	OR51M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000184698		0.537	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	465	0.00	0	T	NM_001004756		5411313	5411313	+1	no_errors	ENST00000328611	ensembl	human	known	69_37n	missense	417	12.94	62	SNP	0.905	C
OR52H1	390067	genome.wustl.edu	37	11	5566325	5566325	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5566325G>T	ENST00000322653.4	-	1	454	c.429C>A	c.(427-429)atC>atA	p.I143I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	143						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGAGTCAAGATGGTGGTAT	0.453																																						dbGAP											0													109.0	99.0	102.0					11																	5566325		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.429C>A	11.37:g.5566325G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH26|Q6IF79	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I143	ENST00000322653.4	37	c.429	CCDS31386.1	11																																																																																			OR52H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181616		0.453	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	256	0.00	0	G	NM_001005289		5566325	5566325	-1	no_errors	ENST00000322653	ensembl	human	known	69_37n	silent	251	11.93	34	SNP	0.997	T
OR52H1	390067	genome.wustl.edu	37	11	5566459	5566459	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5566459C>T	ENST00000322653.4	-	1	320	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E99K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGTGATTTCGCGAGCCCCT	0.468																																						dbGAP											1	Substitution - Missense(1)	NS(1)											75.0	72.0	73.0					11																	5566459		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.295G>A	11.37:g.5566459C>T	ENSP00000326259:p.Glu99Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH26|Q6IF79	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.E99K	ENST00000322653.4	37	c.295	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	C	8.672	0.903110	0.17760	.	.	ENSG00000181616	ENST00000322653	T	0.00547	6.66	5.03	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.185275	0.37857	N	0.001913	T	0.00637	0.0021	L	0.56124	1.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43877	-0.9364	10	0.52906	T	0.07	.	9.8061	0.40795	0.0:0.8342:0.0:0.1658	.	99	Q8NGJ2	O52H1_HUMAN	K	99	ENSP00000326259:E99K	ENSP00000326259:E99K	E	-	1	0	OR52H1	5523035	0.000000	0.05858	0.561000	0.28357	0.424000	0.31475	-0.025000	0.12413	0.721000	0.32231	0.650000	0.86243	GAA	OR52H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181616		0.468	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	131	0.00	0	C	NM_001005289		5566459	5566459	-1	no_errors	ENST00000322653	ensembl	human	known	69_37n	missense	145	16.38	29	SNP	0.028	T
OR52E6	390078	genome.wustl.edu	37	11	5862809	5862809	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5862809G>T	ENST00000329322.5	-	1	318	c.319C>A	c.(319-321)Cat>Aat	p.H107N	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.H111N	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAAGAAATGGATGAAGAAC	0.463																																						dbGAP											0													167.0	160.0	163.0					11																	5862809		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.319C>A	11.37:g.5862809G>T	ENSP00000328878:p.His107Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFF8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H111N	ENST00000329322.5	37	c.331	CCDS53597.1	11	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143313	0.57044	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.00547	6.66;6.66	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.02767	0.0083	M	0.90705	3.14	0.26443	N	0.975737	D	0.89917	1.0	D	0.91635	0.999	T	0.03514	-1.1029	10	0.87932	D	0	.	13.4597	0.61221	0.0:0.0:1.0:0.0	.	107	Q96RD3	O52E6_HUMAN	N	107;111	ENSP00000328878:H107N;ENSP00000369279:H111N	ENSP00000328878:H107N	H	-	1	0	OR52E6	5819385	1.000000	0.71417	0.351000	0.25721	0.877000	0.50540	5.163000	0.64948	1.705000	0.51264	0.551000	0.68910	CAT	OR52E6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000205409		0.463	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E6	HGNC	protein_coding	OTTHUMT00000401144.1	431	0.00	0	G	NM_001005167		5862809	5862809	-1	no_errors	ENST00000379946	ensembl	human	known	69_37n	missense	296	13.95	48	SNP	0.600	T
OR56A3	390083	genome.wustl.edu	37	11	5969100	5969100	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5969100G>T	ENST00000329564.6	+	1	531	c.524G>T	c.(523-525)aGa>aTa	p.R175I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTGGAAGAAATGTCATT	0.448																																						dbGAP											0													102.0	104.0	103.0					11																	5969100		2165	4287	6452	-	-	-	SO:0001583	missense	0				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.524G>T	11.37:g.5969100G>T	ENSP00000331572:p.Arg175Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN77|Q6IFF7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R175I	ENST00000329564.6	37	c.524	CCDS41614.1	11	.	.	.	.	.	.	.	.	.	.	G	4.694	0.129097	0.08981	.	.	ENSG00000184478	ENST00000329564	T	0.00091	8.74	5.13	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	1.012980	0.07893	N	0.971510	T	0.00144	0.0004	L	0.45352	1.415	0.09310	N	0.999999	B	0.27951	0.195	B	0.37650	0.255	T	0.12400	-1.0549	10	0.42905	T	0.14	6.6689	10.2923	0.43603	0.5349:0.2837:0.1814:0.0	.	175	Q8NH54	O56A3_HUMAN	I	175	ENSP00000331572:R175I	ENSP00000331572:R175I	R	+	2	0	OR56A3	5925676	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.945000	0.00681	-1.887000	0.01115	-2.718000	0.00132	AGA	OR56A3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184478		0.448	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1	173	0.00	0	G	NM_001003443		5969100	5969100	+1	no_errors	ENST00000329564	ensembl	human	known	69_37n	missense	196	10.50	23	SNP	0.000	T
OR4S2	219431	genome.wustl.edu	37	11	55418432	55418432	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55418432G>A	ENST00000312422.2	+	1	53	c.53G>A	c.(52-54)aGc>aAc	p.S18N		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTTTCTCAGAGCCCAGAGATT	0.368																																						dbGAP											0													78.0	70.0	73.0					11																	55418432		2180	4009	6189	-	-	-	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.53G>A	11.37:g.55418432G>A	ENSP00000310337:p.Ser18Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF72	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S18N	ENST00000312422.2	37	c.53	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.374485	0.01214	.	.	ENSG00000174982	ENST00000312422	T	0.01092	5.35	5.36	3.01	0.34805	.	0.214830	0.31989	N	0.006751	T	0.00496	0.0016	N	0.01446	-0.86	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47995	-0.9073	10	0.02654	T	1	.	7.8272	0.29322	0.812:0.0:0.188:0.0	.	18	Q8NH73	OR4S2_HUMAN	N	18	ENSP00000310337:S18N	ENSP00000310337:S18N	S	+	2	0	OR4S2	55175008	0.000000	0.05858	0.173000	0.22940	0.601000	0.36947	0.100000	0.15231	0.334000	0.23590	0.549000	0.68633	AGC	OR4S2	-	NULL	ENSG00000174982		0.368	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	144	0.00	0	G	NM_001004059		55418432	55418432	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	missense	44	60.36	67	SNP	0.014	A
OR5AC2	81050	genome.wustl.edu	37	3	97806900	97806900	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97806900G>T	ENST00000358642.2	+	1	884	c.884G>T	c.(883-885)aGa>aTa	p.R295I		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	295					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TACAGCTTGAGAAATAAAAAA	0.353																																						dbGAP											0													62.0	64.0	63.0					3																	97806900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.884G>T	3.37:g.97806900G>T	ENSP00000351466:p.Arg295Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R295I	ENST00000358642.2	37	c.884	CCDS33796.1	3	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260639	0.39995	.	.	ENSG00000196578	ENST00000358642	T	0.39056	1.1	4.51	4.51	0.55191	.	0.000000	0.40222	U	0.001152	T	0.75496	0.3857	H	0.98996	4.395	0.35896	D	0.830064	D	0.89917	1.0	D	0.91635	0.999	D	0.85085	0.0948	10	0.87932	D	0	-26.7128	8.505	0.33181	0.1039:0.0:0.8961:0.0	.	295	Q9NZP5	O5AC2_HUMAN	I	295	ENSP00000351466:R295I	ENSP00000351466:R295I	R	+	2	0	OR5AC2	99289590	1.000000	0.71417	0.164000	0.22755	0.076000	0.17211	5.170000	0.64990	2.369000	0.80426	0.590000	0.80494	AGA	OR5AC2	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000196578		0.353	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AC2	HGNC	protein_coding	OTTHUMT00000359116.1	185	0.00	0	G			97806900	97806900	+1	no_errors	ENST00000358642	ensembl	human	known	69_37n	missense	106	12.40	15	SNP	0.910	T
OR5D14	219436	genome.wustl.edu	37	11	55563726	55563726	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55563726C>A	ENST00000335605.1	+	1	695	c.695C>A	c.(694-696)tCt>tAt	p.S232Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AAAATCCGTTCTGTTAGTGGG	0.468																																						dbGAP											0													141.0	133.0	135.0					11																	55563726		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.695C>A	11.37:g.55563726C>A	ENSP00000334456:p.Ser232Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S232Y	ENST00000335605.1	37	c.695	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	9.155	1.017239	0.19355	.	.	ENSG00000186113	ENST00000335605	T	0.00337	8.05	5.08	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.358153	0.20483	N	0.091448	T	0.00998	0.0033	H	0.98068	4.14	0.09310	N	1	P	0.37663	0.604	P	0.49597	0.616	T	0.03503	-1.1030	10	0.87932	D	0	-17.561	8.4084	0.32629	0.1567:0.7617:0.0:0.0816	.	232	Q8NGL3	OR5DE_HUMAN	Y	232	ENSP00000334456:S232Y	ENSP00000334456:S232Y	S	+	2	0	OR5D14	55320302	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-0.624000	0.05540	1.153000	0.42468	-0.134000	0.14843	TCT	OR5D14	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186113		0.468	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	181	0.00	0	C	NM_001004735		55563726	55563726	+1	no_errors	ENST00000335605	ensembl	human	known	69_37n	missense	133	10.74	16	SNP	0.071	A
OR5F1	338674	genome.wustl.edu	37	11	55761832	55761832	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55761832T>C	ENST00000278409.1	-	1	269	c.270A>G	c.(268-270)aaA>aaG	p.K90K		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	90					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAGATGGTTTTCTTCTCTG	0.448																																						dbGAP											0													74.0	72.0	73.0					11																	55761832		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.270A>G	11.37:g.55761832T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495D1|Q6IFB9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K90	ENST00000278409.1	37	c.270	CCDS31515.1	11																																																																																			OR5F1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000149133		0.448	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	HGNC	protein_coding	OTTHUMT00000391532.1	190	0.52	1	T	NM_003697		55761832	55761832	-1	no_errors	ENST00000278409	ensembl	human	known	69_37n	silent	117	12.69	17	SNP	0.000	C
OR5AS1	219447	genome.wustl.edu	37	11	55797903	55797903	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55797903G>T	ENST00000313555.1	+	1	9	c.9G>T	c.(7-9)gaG>gaT	p.E3D		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGATGTTGGAGAGTAATTACA	0.373																																						dbGAP											0													99.0	95.0	96.0					11																	55797903		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.9G>T	11.37:g.55797903G>T	ENSP00000324111:p.Glu3Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E3D	ENST00000313555.1	37	c.9	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	G	2.798	-0.249714	0.05867	.	.	ENSG00000181785	ENST00000313555	T	0.00659	5.94	5.17	-0.419	0.12340	.	0.815379	0.09909	U	0.739981	T	0.00552	0.0018	N	0.16602	0.42	0.09310	N	1	B	0.23937	0.094	B	0.22386	0.039	T	0.44406	-0.9330	10	0.15066	T	0.55	.	5.4442	0.16524	0.0771:0.3884:0.4014:0.1331	.	3	Q8N127	O5AS1_HUMAN	D	3	ENSP00000324111:E3D	ENSP00000324111:E3D	E	+	3	2	OR5AS1	55554479	.	.	0.005000	0.12908	0.369000	0.29798	.	.	-0.075000	0.12798	-0.189000	0.12847	GAG	OR5AS1	-	NULL	ENSG00000181785		0.373	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	271	0.00	0	G	NM_001001921		55797903	55797903	+1	no_errors	ENST00000313555	ensembl	human	known	69_37n	missense	129	27.12	48	SNP	0.000	T
OR5AK2	390181	genome.wustl.edu	37	11	56756424	56756424	+	Missense_Mutation	SNP	C	C	A	rs192607423		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56756424C>A	ENST00000326855.2	+	1	78	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCACTGAATTCTATCTTCTGG	0.398																																						dbGAP											0													141.0	136.0	138.0					11																	56756424		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.36C>A	11.37:g.56756424C>A	ENSP00000322784:p.Phe12Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F12L	ENST00000326855.2	37	c.36	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261068	0.23051	.	.	ENSG00000181273	ENST00000326855	T	0.04454	3.62	3.85	1.9	0.25705	.	0.167217	0.28549	N	0.014960	T	0.10937	0.0267	M	0.86028	2.79	0.19575	N	0.999964	P	0.38922	0.651	B	0.43950	0.437	T	0.07083	-1.0791	10	0.87932	D	0	-54.1967	6.2519	0.20850	0.0:0.5855:0.0:0.4145	.	12	Q8NH90	O5AK2_HUMAN	L	12	ENSP00000322784:F12L	ENSP00000322784:F12L	F	+	3	2	OR5AK2	56513000	0.000000	0.05858	0.252000	0.24328	0.027000	0.11550	-1.225000	0.02956	0.382000	0.24878	0.194000	0.17425	TTC	OR5AK2	-	NULL	ENSG00000181273		0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	243	0.00	0	C	NM_001005323		56756424	56756424	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	missense	183	12.38	26	SNP	0.268	A
OR5H1	26341	genome.wustl.edu	37	3	97851695	97851695	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97851695G>T	ENST00000354565.2	+	1	154	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTGGAAAGACCCTCACCT	0.423																																						dbGAP											0													60.0	62.0	62.0					3																	97851695		2201	4272	6473	-	-	-	SO:0001583	missense	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.154G>T	3.37:g.97851695G>T	ENSP00000346575:p.Asp52Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D52Y	ENST00000354565.2	37	c.154	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268803	0.23136	.	.	ENSG00000231192	ENST00000354565	T	0.02974	4.09	3.63	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	0.141162	0.32231	N	0.006386	T	0.18551	0.0445	H	0.96080	3.765	0.22968	N	0.998494	D	0.61697	0.99	D	0.64042	0.921	T	0.06162	-1.0842	10	0.87932	D	0	.	9.1816	0.37146	0.117:0.0:0.883:0.0	.	52	A6NKK0	OR5H1_HUMAN	Y	52	ENSP00000346575:D52Y	ENSP00000346575:D52Y	D	+	1	0	OR5H1	99334385	0.059000	0.20769	0.914000	0.36105	0.055000	0.15305	1.198000	0.32223	1.856000	0.53863	0.195000	0.17529	GAC	OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000231192		0.423	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	431	0.00	0	G	NM_001005338		97851695	97851695	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	missense	200	23.08	60	SNP	0.896	T
OR5H1	26341	genome.wustl.edu	37	3	97851835	97851835	+	Missense_Mutation	SNP	G	G	T	rs112264940		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97851835G>T	ENST00000354565.2	+	1	294	c.294G>T	c.(292-294)aaG>aaT	p.K98N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTGAATGCAAGATACAGTTTT	0.383																																						dbGAP											0													184.0	180.0	181.0					3																	97851835		2203	4299	6502	-	-	-	SO:0001583	missense	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.294G>T	3.37:g.97851835G>T	ENSP00000346575:p.Lys98Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.K98N	ENST00000354565.2	37	c.294	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	G	5.026	0.190461	0.09547	.	.	ENSG00000231192	ENST00000354565	T	0.00397	7.57	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.618423	0.15161	N	0.277152	T	0.00241	0.0007	N	0.12182	0.205	0.18873	N	0.999985	B	0.33549	0.417	B	0.34652	0.187	T	0.55866	-0.8073	10	0.56958	D	0.05	.	12.6623	0.56822	0.0:0.0:1.0:0.0	.	98	A6NKK0	OR5H1_HUMAN	N	98	ENSP00000346575:K98N	ENSP00000346575:K98N	K	+	3	2	OR5H1	99334525	0.000000	0.05858	0.806000	0.32338	0.059000	0.15707	-0.406000	0.07187	1.818000	0.53035	0.195000	0.17529	AAG	OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000231192		0.383	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	427	0.00	0	G	NM_001005338		97851835	97851835	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	missense	231	20.62	60	SNP	0.457	T
OR5H1	26341	genome.wustl.edu	37	3	97852292	97852292	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97852292T>A	ENST00000354565.2	+	1	751	c.751T>A	c.(751-753)Tac>Aac	p.Y251N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTCTCTTTATACTATGGACC	0.413																																						dbGAP											0													124.0	134.0	131.0					3																	97852292		2203	4299	6502	-	-	-	SO:0001583	missense	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.751T>A	3.37:g.97852292T>A	ENSP00000346575:p.Tyr251Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y251N	ENST00000354565.2	37	c.751	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	T	8.875	0.950291	0.18431	.	.	ENSG00000231192	ENST00000354565	T	0.00174	8.62	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000669	T	0.00524	0.0017	M	0.80508	2.5	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35226	-0.9797	10	0.87932	D	0	.	10.1009	0.42504	0.0:0.0:0.0:1.0	.	251	A6NKK0	OR5H1_HUMAN	N	251	ENSP00000346575:Y251N	ENSP00000346575:Y251N	Y	+	1	0	OR5H1	99334982	0.820000	0.29190	0.880000	0.34516	0.045000	0.14185	1.734000	0.38166	1.481000	0.48307	0.164000	0.16699	TAC	OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000231192		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	729	0.00	0	T	NM_001005338		97852292	97852292	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	missense	412	11.75	55	SNP	0.034	A
OR5H14	403273	genome.wustl.edu	37	3	97868452	97868452	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:97868452T>G	ENST00000437310.1	+	1	283	c.223T>G	c.(223-225)Tcc>Gcc	p.S75A	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTGTTATCATCCTCAGTGAC	0.393																																						dbGAP											0													287.0	285.0	286.0					3																	97868452		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.223T>G	3.37:g.97868452T>G	ENSP00000401706:p.Ser75Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH15	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S75A	ENST00000437310.1	37	c.223	CCDS33798.1	3	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151754	0.38021	.	.	ENSG00000236032	ENST00000437310	T	0.00392	7.58	2.49	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.170991	0.28360	N	0.015630	T	0.00496	0.0016	M	0.87038	2.855	0.09310	N	1	P	0.50943	0.94	P	0.46585	0.521	T	0.46569	-0.9182	10	0.87932	D	0	.	5.7861	0.18334	0.2382:0.0:0.0:0.7618	.	75	A6NHG9	O5H14_HUMAN	A	75	ENSP00000401706:S75A	ENSP00000401706:S75A	S	+	1	0	OR5H14	99351142	0.002000	0.14202	0.037000	0.18230	0.022000	0.10575	0.421000	0.21280	0.154000	0.19237	0.164000	0.16699	TCC	OR5H14	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000236032		0.393	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H14	HGNC	protein_coding	OTTHUMT00000359112.1	615	0.00	0	T			97868452	97868452	+1	no_errors	ENST00000437310	ensembl	human	known	69_37n	missense	383	27.27	144	SNP	0.452	G
OR5L1	219437	genome.wustl.edu	37	11	55579820	55579820	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55579820G>T	ENST00000333973.2	+	1	967	c.878G>T	c.(877-879)aGa>aTa	p.R293I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TACAGCCTGAGAAATAAAGAT	0.453																																						dbGAP											0													44.0	45.0	45.0					11																	55579820		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.878G>T	11.37:g.55579820G>T	ENSP00000335529:p.Arg293Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R293I	ENST00000333973.2	37	c.878	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	g	11.69	1.714640	0.30413	.	.	ENSG00000186117	ENST00000333973	T	0.39056	1.1	4.12	3.2	0.36748	.	0.000000	0.64402	D	0.000018	T	0.73892	0.3645	H	0.98682	4.3	0.39424	D	0.966966	D	0.62365	0.991	D	0.63597	0.916	T	0.81936	-0.0705	10	0.87932	D	0	-22.9325	10.9825	0.47504	0.095:0.0:0.905:0.0	.	293	Q8NGL2	OR5L1_HUMAN	I	293	ENSP00000335529:R293I	ENSP00000335529:R293I	R	+	2	0	OR5L1	55336396	0.995000	0.38212	0.201000	0.23476	0.036000	0.12997	2.521000	0.45563	0.736000	0.32559	-0.673000	0.03796	AGA	OR5L1	-	prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000186117		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	94	0.00	0	G	NM_001004738		55579820	55579820	+1	no_errors	ENST00000333973	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.699	T
OR5J2	282775	genome.wustl.edu	37	11	55944375	55944375	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55944375C>A	ENST00000312298.1	+	1	282	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CAATTTCTTTCTCTGCTTGCA	0.453																																						dbGAP											0													170.0	138.0	149.0					11																	55944375		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.282C>A	11.37:g.55944375C>A	ENSP00000310788:p.Phe94Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEU5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	p.F94L	ENST00000312298.1	37	c.282	CCDS31522.1	11	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822549	0.32237	.	.	ENSG00000174957	ENST00000312298	T	0.00327	8.09	4.67	-0.776	0.10984	GPCR, rhodopsin-like superfamily (1);	0.509864	0.18259	N	0.146716	T	0.00210	0.0006	L	0.43646	1.37	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.41662	-0.9496	10	0.66056	D	0.02	.	5.9017	0.18970	0.1232:0.4466:0.0:0.4302	.	94	Q8NH18	OR5J2_HUMAN	L	94	ENSP00000310788:F94L	ENSP00000310788:F94L	F	+	3	2	OR5J2	55700951	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.039000	0.13884	-0.063000	0.13065	-0.237000	0.12165	TTC	OR5J2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000174957		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	HGNC	protein_coding	OTTHUMT00000391544.1	119	0.00	0	C	NM_001005492		55944375	55944375	+1	no_errors	ENST00000312298	ensembl	human	known	69_37n	missense	88	29.60	37	SNP	0.000	A
OR5P2	120065	genome.wustl.edu	37	11	7817732	7817732	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7817732A>C	ENST00000329434.2	-	1	788	c.758T>G	c.(757-759)tTc>tGc	p.F253C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACATAAATGAAGGTAATGGT	0.502																																						dbGAP											0													125.0	127.0	126.0					11																	7817732		2110	4292	6402	-	-	-	SO:0001583	missense	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.758T>G	11.37:g.7817732A>C	ENSP00000331823:p.Phe253Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIS8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F253C	ENST00000329434.2	37	c.758	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506338	0.44558	.	.	ENSG00000183303	ENST00000329434	T	0.00287	8.29	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00637	0.0021	M	0.75615	2.305	0.45076	D	0.99809	D	0.89917	1.0	D	0.80764	0.994	T	0.79621	-0.1727	10	0.56958	D	0.05	-97.5707	13.5956	0.61987	1.0:0.0:0.0:0.0	.	253	Q8WZ92	OR5P2_HUMAN	C	253	ENSP00000331823:F253C	ENSP00000331823:F253C	F	-	2	0	OR5P2	7774308	1.000000	0.71417	0.988000	0.46212	0.309000	0.27889	3.161000	0.50747	2.310000	0.77875	0.449000	0.29647	TTC	OR5P2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000183303		0.502	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	341	0.00	0	A	NM_153444		7817732	7817732	-1	no_errors	ENST00000329434	ensembl	human	known	69_37n	missense	222	22.92	66	SNP	0.999	C
OR5T3	390154	genome.wustl.edu	37	11	56019923	56019923	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56019923C>T	ENST00000303059.3	+	1	248	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATTGAGGATTCCTGGCTCCAC	0.373																																						dbGAP											0													104.0	102.0	103.0					11																	56019923		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.248C>T	11.37:g.56019923C>T	ENSP00000305403:p.Ser83Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S83F	ENST00000303059.3	37	c.248	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	c	1.627	-0.520018	0.04171	.	.	ENSG00000172489	ENST00000303059	T	0.01099	5.34	4.55	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.192989	0.25598	U	0.029571	T	0.02533	0.0077	M	0.86097	2.795	0.09310	N	1	B	0.17667	0.023	B	0.23419	0.046	T	0.24190	-1.0167	10	0.52906	T	0.07	.	8.5369	0.33368	0.3419:0.5829:0.0:0.0752	.	83	Q8NGG3	OR5T3_HUMAN	F	83	ENSP00000305403:S83F	ENSP00000305403:S83F	S	+	2	0	OR5T3	55776499	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.113000	0.03296	0.636000	0.30508	0.643000	0.83706	TCC	OR5T3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172489		0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	191	0.00	0	C	NM_001004747		56019923	56019923	+1	no_errors	ENST00000303059	ensembl	human	known	69_37n	missense	170	15.00	30	SNP	0.000	T
OR5T1	390155	genome.wustl.edu	37	11	56043242	56043242	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56043242T>G	ENST00000313033.2	+	1	214	c.128T>G	c.(127-129)tTt>tGt	p.F43C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	43						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)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTTTATTATTTTTAGCAATC	0.333																																						dbGAP											0													60.0	65.0	64.0					11																	56043242		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.128T>G	11.37:g.56043242T>G	ENSP00000323612:p.Phe43Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F43C	ENST00000313033.2	37	c.128	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773654	0.49786	.	.	ENSG00000181698	ENST00000313033	T	0.04603	3.59	3.59	3.59	0.41128	.	0.000000	0.45867	D	0.000338	T	0.22399	0.0540	M	0.87682	2.9	0.09310	N	0.999998	D	0.76494	0.999	D	0.72338	0.977	T	0.02639	-1.1130	10	0.87932	D	0	.	11.5033	0.50450	0.0:0.0:0.0:1.0	.	43	Q8NG75	OR5T1_HUMAN	C	43	ENSP00000323612:F43C	ENSP00000323612:F43C	F	+	2	0	OR5T1	55799818	0.985000	0.35326	0.022000	0.16811	0.179000	0.23085	5.386000	0.66238	1.648000	0.50643	0.381000	0.24937	TTT	OR5T1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000181698		0.333	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	148	0.00	0	T	NM_001004745		56043242	56043242	+1	no_errors	ENST00000313033	ensembl	human	known	69_37n	missense	153	14.53	26	SNP	0.255	G
OR5T1	390155	genome.wustl.edu	37	11	56043320	56043320	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56043320G>A	ENST00000313033.2	+	1	292	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	69						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)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGGCTTCACAGCCCAATGTAC	0.353																																						dbGAP											0													88.0	86.0	86.0					11																	56043320		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.206G>A	11.37:g.56043320G>A	ENSP00000323612:p.Ser69Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S69N	ENST00000313033.2	37	c.206	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	G	4.782	0.145444	0.09134	.	.	ENSG00000181698	ENST00000313033	T	0.00411	7.53	3.63	-2.41	0.06562	GPCR, rhodopsin-like superfamily (1);	0.662303	0.13089	N	0.414699	T	0.00210	0.0006	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	10	0.40728	T	0.16	.	7.6589	0.28392	0.2186:0.5872:0.1942:0.0	.	69	Q8NG75	OR5T1_HUMAN	N	69	ENSP00000323612:S69N	ENSP00000323612:S69N	S	+	2	0	OR5T1	55799896	0.000000	0.05858	0.061000	0.19648	0.095000	0.18619	-0.088000	0.11198	-0.171000	0.10797	-0.511000	0.04467	AGC	OR5T1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181698		0.353	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	193	0.00	0	G	NM_001004745		56043320	56043320	+1	no_errors	ENST00000313033	ensembl	human	known	69_37n	missense	148	24.87	49	SNP	0.000	A
OR5M1	390168	genome.wustl.edu	37	11	56380307	56380307	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56380307C>T	ENST00000526538.1	-	1	671	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCTGAAGATCGCTGCAAAAA	0.438																																						dbGAP											0													44.0	43.0	44.0					11																	56380307		1827	4074	5901	-	-	-	SO:0001819	synonymous_variant	0			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.672G>A	11.37:g.56380307C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF60|Q96RB6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A224	ENST00000526538.1	37	c.672	CCDS53631.1	11																																																																																			OR5M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000255012		0.438	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	223	0.00	0	C	NM_001004740		56380307	56380307	-1	no_errors	ENST00000526538	ensembl	human	known	69_37n	silent	168	15.15	30	SNP	0.128	T
OR6C1	390321	genome.wustl.edu	37	12	55714790	55714790	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55714790G>A	ENST00000379668.2	+	1	445	c.407G>A	c.(406-408)cGa>cAa	p.R136Q		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ATCATGAATCGAAGAGTCTGC	0.433																																						dbGAP											0													47.0	45.0	46.0					12																	55714790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.407G>A	12.37:g.55714790G>A	ENSP00000368990:p.Arg136Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R136Q	ENST00000379668.2	37	c.407	CCDS31818.1	12	.	.	.	.	.	.	.	.	.	.	g	3.053	-0.194983	0.06259	.	.	ENSG00000205330	ENST00000379668	T	0.01347	4.99	4.59	-5.58	0.02512	GPCR, rhodopsin-like superfamily (1);	1.294650	0.05149	N	0.495618	T	0.01156	0.0038	N	0.12471	0.22	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.46205	-0.9208	10	0.30078	T	0.28	.	13.5098	0.61504	0.6668:0.0:0.3332:0.0	.	136	Q96RD1	OR6C1_HUMAN	Q	136	ENSP00000368990:R136Q	ENSP00000368990:R136Q	R	+	2	0	OR6C1	54001057	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-1.342000	0.02645	-0.979000	0.03529	-0.480000	0.04831	CGA	OR6C1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000205330		0.433	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	143	0.00	0	G	NM_001005182		55714790	55714790	+1	no_errors	ENST00000379668	ensembl	human	known	69_37n	missense	86	21.10	23	SNP	0.000	A
OR6C3	254786	genome.wustl.edu	37	12	55726176	55726176	+	Missense_Mutation	SNP	G	G	T	rs267603562		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55726176G>T	ENST00000379667.1	+	1	692	c.692G>T	c.(691-693)aGa>aTa	p.R231I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	231					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCCAGTCAAAGAAAAAAGGCT	0.358																																						dbGAP											1	Substitution - Missense(1)	skin(1)											150.0	146.0	148.0					12																	55726176		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.692G>T	12.37:g.55726176G>T	ENSP00000368989:p.Arg231Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R231I	ENST00000379667.1	37	c.692	CCDS31819.1	12	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864116	0.32884	.	.	ENSG00000205329	ENST00000379667	T	0.00330	8.08	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000071	T	0.01156	0.0038	M	0.90483	3.12	0.20307	N	0.999919	D	0.67145	0.996	D	0.76575	0.988	T	0.30060	-0.9991	10	0.87932	D	0	.	18.7289	0.91726	0.0:0.0:1.0:0.0	.	231	Q9NZP0	OR6C3_HUMAN	I	231	ENSP00000368989:R231I	ENSP00000368989:R231I	R	+	2	0	OR6C3	54012443	0.353000	0.24904	0.037000	0.18230	0.004000	0.04260	3.063000	0.49978	2.815000	0.96918	0.650000	0.86243	AGA	OR6C3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205329		0.358	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C3	HGNC	protein_coding	OTTHUMT00000406309.1	409	0.24	1	G			55726176	55726176	+1	no_errors	ENST00000379667	ensembl	human	known	69_37n	missense	300	11.50	39	SNP	0.052	T
OR6C74	254783	genome.wustl.edu	37	12	55641243	55641243	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55641243T>C	ENST00000343870.4	+	1	262	c.172T>C	c.(172-174)Tat>Cat	p.Y58H		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GACACCCATGTATTTCTTCCT	0.378																																						dbGAP											0													169.0	165.0	167.0					12																	55641243		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.172T>C	12.37:g.55641243T>C	ENSP00000342836:p.Tyr58His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y58H	ENST00000343870.4	37	c.172	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	t	21.5	4.164138	0.78339	.	.	ENSG00000197706	ENST00000343870	T	0.15487	2.42	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000239	T	0.58264	0.2110	H	0.97940	4.11	0.42567	D	0.993169	D	0.89917	1.0	D	0.85130	0.997	T	0.75682	-0.3233	10	0.87932	D	0	.	14.4929	0.67665	0.0:0.0:0.0:1.0	.	58	A6NCV1	O6C74_HUMAN	H	58	ENSP00000342836:Y58H	ENSP00000342836:Y58H	Y	+	1	0	OR6C74	53927510	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.801000	0.69115	2.139000	0.66308	0.450000	0.29827	TAT	OR6C74	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197706		0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	309	0.00	0	T			55641243	55641243	+1	no_errors	ENST00000343870	ensembl	human	known	69_37n	missense	194	26.24	69	SNP	1.000	C
OR6C70	390327	genome.wustl.edu	37	12	55863430	55863430	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55863430C>T	ENST00000327335.4	-	1	492	c.493G>A	c.(493-495)Gat>Aat	p.D165N	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D165N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GCACAGAAATCCAAGTTAAGA	0.368																																						dbGAP											1	Substitution - Missense(1)	lung(1)											80.0	82.0	81.0					12																	55863430		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.493G>A	12.37:g.55863430C>T	ENSP00000329153:p.Asp165Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D165N	ENST00000327335.4	37	c.493	CCDS31825.1	12	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562994	0.13498	.	.	ENSG00000184954	ENST00000327335	T	0.00076	8.76	4.06	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.117788	0.37304	N	0.002154	T	0.00144	0.0004	L	0.45352	1.415	0.09310	N	1	B	0.26512	0.151	B	0.33690	0.168	T	0.30179	-0.9987	10	0.59425	D	0.04	.	3.0686	0.06222	0.2155:0.5566:0.0:0.2278	.	165	A6NIJ9	O6C70_HUMAN	N	165	ENSP00000329153:D165N	ENSP00000329153:D165N	D	-	1	0	OR6C70	54149697	0.000000	0.05858	0.747000	0.31113	0.052000	0.14988	-1.709000	0.01890	1.045000	0.40225	0.655000	0.94253	GAT	OR6C70	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184954		0.368	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1	73	0.00	0	C			55863430	55863430	-1	no_errors	ENST00000327335	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.000	T
OR6C68	403284	genome.wustl.edu	37	12	55886519	55886519	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55886519C>T	ENST00000548615.1	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.R125C	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R125S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						GTCATATGATCGCTATGTGGC	0.373																																						dbGAP											1	Substitution - Missense(1)	lung(1)											163.0	152.0	155.0					12																	55886519		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"""GPCR / Class A : Olfactory receptors"""	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.358C>T	12.37:g.55886519C>T	ENSP00000448811:p.Arg120Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R125C	ENST00000548615.1	37	c.373	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051489	0.36181	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.77358	-1.09;-1.09	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.79936	0.4532	M	0.82433	2.59	0.47308	D	0.999385	P	0.47034	0.889	B	0.39419	0.299	D	0.84878	0.0829	10	0.62326	D	0.03	.	17.9913	0.89170	0.0:1.0:0.0:0.0	.	120	A6NDL8	O6C68_HUMAN	C	125;120	ENSP00000368983:R125C;ENSP00000448811:R120C	ENSP00000368983:R125C	R	+	1	0	OR6C68	54172786	0.998000	0.40836	0.129000	0.21949	0.192000	0.23643	4.020000	0.57189	2.648000	0.89879	0.603000	0.83216	CGC	OR6C68	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000205327		0.373	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	411	0.24	1	C			55886519	55886519	+1	no_errors	ENST00000379662	ensembl	human	known	69_37n	missense	301	24.37	97	SNP	0.989	T
OR6M1	390261	genome.wustl.edu	37	11	123676536	123676536	+	Missense_Mutation	SNP	G	G	T	rs141670886		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:123676536G>T	ENST00000309154.2	-	1	559	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTCACAGAAGAAATGATTAA	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		22215	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													66.0	65.0	65.0					11																	123676536		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.522C>A	11.37:g.123676536G>T	ENSP00000311038:p.Phe174Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F174L	ENST00000309154.2	37	c.522	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	g	13.76	2.334129	0.41297	.	.	ENSG00000196099	ENST00000309154	T	0.00346	8.01	3.58	-3.19	0.05171	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33875	U	0.004472	T	0.00637	0.0021	M	0.83118	2.625	0.20563	N	0.999886	D	0.89917	1.0	D	0.80764	0.994	T	0.15780	-1.0425	10	0.87932	D	0	.	10.1732	0.42922	0.4371:0.0:0.5629:0.0	.	174	Q8NGM8	OR6M1_HUMAN	L	174	ENSP00000311038:F174L	ENSP00000311038:F174L	F	-	3	2	OR6M1	123181746	0.000000	0.05858	0.285000	0.24819	0.682000	0.39822	-0.574000	0.05868	-0.616000	0.05671	-1.149000	0.01842	TTC	OR6M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196099		0.463	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	228	0.00	0	G	NM_001005325		123676536	123676536	-1	no_errors	ENST00000309154	ensembl	human	known	69_37n	missense	140	15.66	26	SNP	0.441	T
OR6V1	346517	genome.wustl.edu	37	7	142749734	142749734	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:142749734C>A	ENST00000418316.1	+	1	318	c.297C>A	c.(295-297)ttC>ttA	p.F99L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGGTCCAGTTCTACTTCCACT	0.552																																						dbGAP											0													165.0	170.0	168.0					7																	142749734		2144	4264	6408	-	-	-	SO:0001583	missense	0				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.297C>A	7.37:g.142749734C>A	ENSP00000396085:p.Phe99Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F99L	ENST00000418316.1	37	c.297	CCDS47728.1	7	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238698	0.22711	.	.	ENSG00000225781	ENST00000418316	T	0.02974	4.09	4.38	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02888	0.0086	N	0.10874	0.06	0.23872	N	0.996607	D	0.55800	0.973	P	0.55055	0.767	T	0.16897	-1.0387	9	0.02654	T	1	.	9.8529	0.41068	0.0:0.8987:0.0:0.1013	.	99	Q8N148	OR6V1_HUMAN	L	99	ENSP00000396085:F99L	ENSP00000396085:F99L	F	+	3	2	OR6V1	142459856	0.000000	0.05858	0.995000	0.50966	0.997000	0.91878	-1.068000	0.03447	1.047000	0.40274	0.655000	0.94253	TTC	OR6V1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000225781		0.552	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	HGNC	protein_coding	OTTHUMT00000350860.1	371	0.00	0	C			142749734	142749734	+1	no_errors	ENST00000418316	ensembl	human	known	69_37n	missense	268	14.38	45	SNP	0.997	A
OR7C1	26664	genome.wustl.edu	37	19	14910350	14910350	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:14910350T>C	ENST00000248073.2	-	1	673	c.599A>G	c.(598-600)tAc>tGc	p.Y200C	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	200					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTTGCAAAGTATATCACCAC	0.403																																						dbGAP											0													78.0	78.0	78.0					19																	14910350		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.599A>G	19.37:g.14910350T>C	ENSP00000248073:p.Tyr200Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y200C	ENST00000248073.2	37	c.599	CCDS12317.1	19	.	.	.	.	.	.	.	.	.	.	t	11.91	1.778817	0.31502	.	.	ENSG00000127530	ENST00000248073	T	0.00158	8.65	3.64	0.113	0.14631	GPCR, rhodopsin-like superfamily (1);	0.824388	0.09865	U	0.745736	T	0.00328	0.0010	M	0.90542	3.125	0.09310	N	1	P	0.46912	0.886	P	0.51806	0.68	T	0.36720	-0.9736	10	0.72032	D	0.01	.	3.5164	0.07726	0.166:0.205:0.0:0.629	.	200	O76099	OR7C1_HUMAN	C	200	ENSP00000248073:Y200C	ENSP00000248073:Y200C	Y	-	2	0	OR7C1	14771350	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.653000	0.24902	-0.179000	0.10654	-0.451000	0.05528	TAC	OR7C1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000127530		0.403	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	HGNC	protein_coding	OTTHUMT00000466519.1	132	0.00	0	T			14910350	14910350	-1	no_errors	ENST00000248073	ensembl	human	known	69_37n	missense	99	36.94	58	SNP	0.001	C
OR7G3	390883	genome.wustl.edu	37	19	9237504	9237504	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9237504C>T	ENST00000305444.2	-	1	122	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGAGCAGGTTCCCCAGCATTG	0.542																																						dbGAP											0													108.0	93.0	98.0					19																	9237504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.123G>A	19.37:g.9237504C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ6|Q96R99	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G41	ENST00000305444.2	37	c.123	CCDS32899.1	19																																																																																			OR7G3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170920		0.542	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G3	HGNC	protein_coding	OTTHUMT00000384611.1	282	0.35	1	C			9237504	9237504	-1	no_errors	ENST00000305444	ensembl	human	known	69_37n	silent	219	31.46	101	SNP	0.158	T
OR7C1	26664	genome.wustl.edu	37	19	14910448	14910448	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:14910448G>T	ENST00000248073.2	-	1	575	c.501C>A	c.(499-501)tcC>tcA	p.S167S	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	167					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGCAGAAGGACAGCCTCA	0.483																																						dbGAP											0													125.0	125.0	125.0					19																	14910448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.501C>A	19.37:g.14910448G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15621|Q6IFP2|Q96R94	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S167	ENST00000248073.2	37	c.501	CCDS12317.1	19																																																																																			OR7C1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000127530		0.483	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	HGNC	protein_coding	OTTHUMT00000466519.1	265	0.00	0	G			14910448	14910448	-1	no_errors	ENST00000248073	ensembl	human	known	69_37n	silent	283	11.01	35	SNP	0.579	T
OR8H1	219469	genome.wustl.edu	37	11	56057709	56057710	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56057709_56057710insA	ENST00000313022.2	-	1	856_857	c.829_830insT	c.(829-831)tatfs	p.Y277fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CACAATAGTATAAAAAACAGAA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.830dupT	11.37:g.56057715_56057715dupA	ENSP00000323595:p.Tyr277fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y277fs	ENST00000313022.2	37	c.830_829	CCDS31526.1	11																																																																																			OR8H1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.351	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	186	0.00	0	-	NM_001005199		56057709	56057710	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	frame_shift_ins	96	32.87	47	INS	0.003:0.003	A
OR8H1	219469	genome.wustl.edu	37	11	56058019	56058019	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56058019G>A	ENST00000313022.2	-	1	547	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAAAAGTGACGAACTACATTT	0.438																																						dbGAP											0													110.0	99.0	103.0					11																	56058019		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.520C>T	11.37:g.56058019G>A	ENSP00000323595:p.Arg174Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.R174C	ENST00000313022.2	37	c.520	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211490	0.09757	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00130	8.69	3.81	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	0.778438	0.11685	N	0.539425	T	0.00109	0.0003	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44003	-0.9356	10	0.87932	D	0	.	0.4576	0.00511	0.1994:0.2602:0.2038:0.3366	.	174	Q8NGG4	OR8H1_HUMAN	C	174;170	ENSP00000323595:R174C	ENSP00000323595:R174C	R	-	1	0	OR8H1	55814595	0.000000	0.05858	0.018000	0.16275	0.001000	0.01503	-2.981000	0.00662	-0.295000	0.08960	-0.323000	0.08544	CGT	OR8H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.438	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	101	0.98	1	G	NM_001005199		56058019	56058019	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	missense	64	30.43	28	SNP	0.000	A
OR8I2	120586	genome.wustl.edu	37	11	55860882	55860882	+	Silent	SNP	C	C	T	rs200412583		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55860882C>T	ENST00000302124.2	+	1	130	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTTTCTCTTCATTTATCTAT	0.398																																						dbGAP											0													200.0	194.0	196.0					11																	55860882		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.99C>T	11.37:g.55860882C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F33	ENST00000302124.2	37	c.99	CCDS31517.1	11																																																																																			OR8I2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000172154		0.398	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		455	0.00	0	C	NM_001003750		55860882	55860882	+1	no_errors	ENST00000302124	ensembl	human	known	69_37n	silent	251	20.82	66	SNP	0.094	T
OR8H2	390151	genome.wustl.edu	37	11	55872981	55872981	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55872981G>T	ENST00000313503.1	+	1	463	c.463G>T	c.(463-465)Gac>Tac	p.D155Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGGCTTTATAGACTCCTTTGT	0.443										HNSCC(53;0.14)																												dbGAP											0													226.0	201.0	209.0					11																	55872981		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.463G>T	11.37:g.55872981G>T	ENSP00000323982:p.Asp155Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D155Y	ENST00000313503.1	37	c.463	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	6.965	0.548053	0.13312	.	.	ENSG00000181767	ENST00000313503	T	0.36157	1.27	3.35	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000033	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	B	0.22080	0.064	B	0.29077	0.098	T	0.12426	-1.0548	10	0.59425	D	0.04	.	2.3154	0.04197	0.1234:0.3204:0.4071:0.1491	.	155	Q8N162	OR8H2_HUMAN	Y	155	ENSP00000323982:D155Y	ENSP00000323982:D155Y	D	+	1	0	OR8H2	55629557	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	0.039000	0.13884	0.717000	0.32145	-0.423000	0.05987	GAC	OR8H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181767		0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	453	0.00	0	G	NM_001005200		55872981	55872981	+1	no_errors	ENST00000313503	ensembl	human	known	69_37n	missense	333	11.90	45	SNP	0.000	T
OR8H3	390152	genome.wustl.edu	37	11	55890734	55890734	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:55890734G>T	ENST00000313472.3	+	1	886	c.886G>T	c.(886-888)Gaa>Taa	p.E296*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TAGAAACAGAGAAGTGAAAAA	0.363																																						dbGAP											0													95.0	100.0	99.0					11																	55890734		2201	4294	6495	-	-	-	SO:0001587	stop_gained	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.886G>T	11.37:g.55890734G>T	ENSP00000323928:p.Glu296*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFB7	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.E296*	ENST00000313472.3	37	c.886	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742156	0.49151	.	.	ENSG00000181761	ENST00000313472	.	.	.	3.62	3.62	0.41486	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6872	0.77421	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000323928:E296X	E	+	1	0	OR8H3	55647310	1.000000	0.71417	0.998000	0.56505	0.611000	0.37282	5.274000	0.65569	1.734000	0.51633	0.173000	0.16961	GAA	OR8H3	-	prints_7TM_GPCR_Rhodpsn	ENSG00000181761		0.363	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	150	0.00	0	G	NM_001005201		55890734	55890734	+1	no_errors	ENST00000313472	ensembl	human	known	69_37n	nonsense	97	33.56	49	SNP	1.000	T
OR8H1	219469	genome.wustl.edu	37	11	56058173	56058173	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56058173G>A	ENST00000313022.2	-	1	393	c.366C>T	c.(364-366)taC>taT	p.Y122Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y122Y(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGATAGCTACGTAGCGATCAT	0.443																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											136.0	131.0	133.0					11																	56058173		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.366C>T	11.37:g.56058173G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y122	ENST00000313022.2	37	c.366	CCDS31526.1	11																																																																																			OR8H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	206	0.00	0	G	NM_001005199		56058173	56058173	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	silent	156	11.86	21	SNP	0.051	A
OR8K3	219473	genome.wustl.edu	37	11	56085818	56085818	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56085818C>T	ENST00000312711.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGAATGAATTCATTCTTACGG	0.413																																						dbGAP											0													143.0	130.0	134.0					11																	56085818		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.36C>T	11.37:g.56085818C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F12	ENST00000312711.1	37	c.36	CCDS31527.1	11																																																																																			OR8K3	-	NULL	ENSG00000181689		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	100	0.00	0	C	NM_001005202		56085818	56085818	+1	no_errors	ENST00000312711	ensembl	human	known	69_37n	silent	113	27.67	44	SNP	0.173	T
OR8K3	219473	genome.wustl.edu	37	11	56086249	56086249	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56086249C>A	ENST00000312711.1	+	1	467	c.467C>A	c.(466-468)tCt>tAt	p.S156Y		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACATTCATTTCTCTTCTAGTC	0.408																																						dbGAP											0													116.0	117.0	117.0					11																	56086249		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.467C>A	11.37:g.56086249C>A	ENSP00000323555:p.Ser156Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S156Y	ENST00000312711.1	37	c.467	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	C	9.201	1.028532	0.19512	.	.	ENSG00000181689	ENST00000312711	T	0.45668	0.89	4.56	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.106597	0.42821	D	0.000658	T	0.66117	0.2757	M	0.89785	3.06	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.59573	-0.7429	10	0.87932	D	0	.	8.5887	0.33674	0.0:0.8243:0.0:0.1757	.	156	Q8NH51	OR8K3_HUMAN	Y	156	ENSP00000323555:S156Y	ENSP00000323555:S156Y	S	+	2	0	OR8K3	55842825	0.000000	0.05858	0.486000	0.27416	0.001000	0.01503	0.260000	0.18424	1.274000	0.44362	-0.254000	0.11334	TCT	OR8K3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181689		0.408	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	133	0.00	0	C	NM_001005202		56086249	56086249	+1	no_errors	ENST00000312711	ensembl	human	known	69_37n	missense	140	30.35	61	SNP	0.005	A
OR8K1	390157	genome.wustl.edu	37	11	56114361	56114361	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56114361T>C	ENST00000279783.2	+	1	941	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGCCTCAGTGTTTTATACCCT	0.373										HNSCC(65;0.19)																												dbGAP											0													108.0	102.0	104.0					11																	56114361		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.847T>C	11.37:g.56114361T>C	ENSP00000279783:p.Phe283Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F283L	ENST00000279783.2	37	c.847	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896326	0.52121	.	.	ENSG00000150261	ENST00000279783	T	0.00032	8.88	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.00210	0.0006	L	0.43701	1.375	0.30874	N	0.732198	D	0.56746	0.977	P	0.50825	0.651	T	0.59311	-0.7478	10	0.66056	D	0.02	-20.9507	10.0239	0.42059	0.0:0.0823:0.0:0.9177	.	283	Q8NGG5	OR8K1_HUMAN	L	283	ENSP00000279783:F283L	ENSP00000279783:F283L	F	+	1	0	OR8K1	55870937	0.000000	0.05858	0.704000	0.30370	0.442000	0.32017	-0.142000	0.10311	1.862000	0.54008	0.448000	0.29417	TTT	OR8K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000150261		0.373	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	104	0.00	0	T	NM_001002907		56114361	56114361	+1	no_errors	ENST00000279783	ensembl	human	known	69_37n	missense	80	12.90	12	SNP	0.821	C
OR8J1	219477	genome.wustl.edu	37	11	56128234	56128234	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:56128234C>A	ENST00000303039.3	+	1	544	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TATTGCTCTTCTAATATAATC	0.393																																						dbGAP											0													118.0	107.0	111.0					11																	56128234		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.512C>A	11.37:g.56128234C>A	ENSP00000304060:p.Ser171Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S171Y	ENST00000303039.3	37	c.512	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175040	0.01646	.	.	ENSG00000172487	ENST00000303039	T	0.00152	8.66	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.00440	0.0014	M	0.88979	2.995	0.09310	N	1	P	0.49559	0.925	P	0.62649	0.905	T	0.37384	-0.9708	10	0.37606	T	0.19	.	7.6078	0.28112	0.0:0.804:0.0:0.196	.	171	Q8NGP2	OR8J1_HUMAN	Y	171	ENSP00000304060:S171Y	ENSP00000304060:S171Y	S	+	2	0	OR8J1	55884810	0.000000	0.05858	0.996000	0.52242	0.088000	0.18126	0.168000	0.16622	2.185000	0.69588	0.549000	0.68633	TCT	OR8J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172487		0.393	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	471	0.00	0	C	NM_001005205		56128234	56128234	+1	no_errors	ENST00000303039	ensembl	human	known	69_37n	missense	337	16.58	67	SNP	0.038	A
OR9Q1	219956	genome.wustl.edu	37	11	57947737	57947737	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:57947737C>A	ENST00000335397.3	+	3	1137	c.821C>A	c.(820-822)tCt>tAt	p.S274Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CGGGTAGTGTCTGTGCTTTAC	0.483																																						dbGAP											0													132.0	112.0	119.0					11																	57947737		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.821C>A	11.37:g.57947737C>A	ENSP00000334934:p.Ser274Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAN3|Q96RA7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S274Y	ENST00000335397.3	37	c.821	CCDS31543.1	11	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908412	0.33721	.	.	ENSG00000186509	ENST00000335397	T	0.00274	8.35	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.153419	0.30742	N	0.008966	T	0.01320	0.0043	H	0.97940	4.11	0.29092	N	0.882046	D	0.71674	0.998	D	0.71870	0.975	T	0.05419	-1.0886	10	0.87932	D	0	-16.4659	17.0921	0.86625	0.0:1.0:0.0:0.0	.	274	Q8NGQ5	OR9Q1_HUMAN	Y	274	ENSP00000334934:S274Y	ENSP00000334934:S274Y	S	+	2	0	OR9Q1	57704313	0.011000	0.17503	1.000000	0.80357	0.004000	0.04260	2.231000	0.43009	2.595000	0.87683	0.484000	0.47621	TCT	OR9Q1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186509		0.483	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q1	HGNC	protein_coding	OTTHUMT00000394538.2	207	0.00	0	C	NM_001005212		57947737	57947737	+1	no_errors	ENST00000335397	ensembl	human	known	69_37n	missense	179	14.35	30	SNP	0.916	A
ORC1	4998	genome.wustl.edu	37	1	52861911	52861911	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:52861911C>A	ENST00000371568.3	-	5	746	c.528G>T	c.(526-528)ttG>ttT	p.L176F	ORC1_ENST00000371566.1_Missense_Mutation_p.L176F	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	176					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGGTTTATTCAACTCCGCAA	0.473																																						dbGAP											0													151.0	134.0	139.0					1																	52861911		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.528G>T	1.37:g.52861911C>A	ENSP00000360623:p.Leu176Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.L176F	ENST00000371568.3	37	c.528	CCDS566.1	1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864241	0.17250	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.48201	0.82;0.82	4.52	0.138	0.14793	.	0.502230	0.22262	N	0.062386	T	0.24736	0.0600	N	0.21142	0.635	0.09310	N	1	B;B	0.20052	0.041;0.009	B;B	0.15870	0.014;0.007	T	0.21211	-1.0252	10	0.10111	T	0.7	-0.703	6.5006	0.22166	0.2652:0.5925:0.0:0.1423	.	176;176	B7Z8H0;Q13415	.;ORC1_HUMAN	F	176	ENSP00000360623:L176F;ENSP00000360621:L176F	ENSP00000360621:L176F	L	-	3	2	ORC1	52634499	0.002000	0.14202	0.002000	0.10522	0.145000	0.21501	0.400000	0.20932	-0.059000	0.13154	0.591000	0.81541	TTG	ORC1	-	NULL	ENSG00000085840		0.473	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	712	0.14	1	C	NM_004153		52861911	52861911	-1	no_errors	ENST00000371566	ensembl	human	known	69_37n	missense	560	14.76	97	SNP	0.057	A
ORC4	5000	genome.wustl.edu	37	2	148730375	148730375	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:148730375C>A	ENST00000392857.5	-	4	265	c.158G>T	c.(157-159)aGa>aTa	p.R53I	ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000392858.1_Missense_Mutation_p.R53I|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.R53I|ORC4_ENST00000535373.1_Missense_Mutation_p.R53I	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	53					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						GAGAGCAGTTCTTTTCAGCAG	0.358																																						dbGAP											0													69.0	72.0	71.0					2																	148730375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.158G>T	2.37:g.148730375C>A	ENSP00000376597:p.Arg53Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4	p.R53I	ENST00000392857.5	37	c.158	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294951	0.81025	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000392857;ENST00000416719;ENST00000457954;ENST00000440042	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.88	4.99	0.66335	.	0.051301	0.85682	D	0.000000	T	0.74779	0.3761	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.74674	0.984;0.953;0.984	T	0.76605	-0.2898	10	0.48119	T	0.1	-18.0449	15.0955	0.72232	0.1431:0.8569:0.0:0.0	.	53;53;53	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	I	53	ENSP00000264169:R53I;ENSP00000441953:R53I;ENSP00000376598:R53I;ENSP00000376597:R53I;ENSP00000413939:R53I;ENSP00000391484:R53I;ENSP00000403105:R53I	ENSP00000264169:R53I	R	-	2	0	ORC4	148446845	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.029000	0.64121	1.439000	0.47511	0.655000	0.94253	AGA	ORC4	-	pfam_ATPase_dom_prok,pirsf_ORC4	ENSG00000115947		0.358	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3	253	0.00	0	C	NM_181742		148730375	148730375	-1	no_errors	ENST00000264169	ensembl	human	known	69_37n	missense	167	10.70	20	SNP	1.000	A
ORC5	5001	genome.wustl.edu	37	7	103838235	103838235	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:103838235C>T	ENST00000297431.4	-	4	521	c.379G>A	c.(379-381)Gca>Aca	p.A127T	ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Missense_Mutation_p.A127T	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	127					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGATACTCTGCTTTATCTAGA	0.323																																						dbGAP											0													49.0	50.0	50.0					7																	103838235		2201	4293	6494	-	-	-	SO:0001583	missense	0				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.379G>A	7.37:g.103838235C>T	ENSP00000297431:p.Ala127Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P8|O60590|O95268	Missense_Mutation	SNP	NULL	p.A127T	ENST00000297431.4	37	c.379	CCDS5734.1	7	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701920	0.88924	.	.	ENSG00000164815	ENST00000297431;ENST00000447452	T;T	0.37235	1.21;1.21	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.964;0.991	T	0.65434	-0.6169	10	0.30854	T	0.27	.	19.5295	0.95223	0.0:1.0:0.0:0.0	.	127;127;127	A4D0P7;O43913-2;O43913	.;.;ORC5_HUMAN	T	127	ENSP00000297431:A127T;ENSP00000395747:A127T	ENSP00000297431:A127T	A	-	1	0	ORC5	103625471	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.153000	0.71819	2.628000	0.89032	0.455000	0.32223	GCA	ORC5	-	NULL	ENSG00000164815		0.323	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	HGNC	protein_coding	OTTHUMT00000348286.1	166	0.00	0	C	NM_002553		103838235	103838235	-1	no_errors	ENST00000297431	ensembl	human	known	69_37n	missense	112	23.81	35	SNP	1.000	T
ORC5	5001	genome.wustl.edu	37	7	103848354	103848354	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:103848354C>A	ENST00000297431.4	-	0	141				ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTGGGGCATTCTGGCAGGCAC	0.582																																						dbGAP											0													89.0	72.0	78.0					7																	103848354		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.-2G>T	7.37:g.103848354C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P8|O60590|O95268	RNA	SNP	-	NULL	ENST00000297431.4	37	NULL	CCDS5734.1	7																																																																																			ORC5	-	-	ENSG00000164815		0.582	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC5	HGNC	protein_coding	OTTHUMT00000348286.1	48	0.00	0	C	NM_002553		103848354	103848354	-1	no_errors	ENST00000485726	ensembl	human	known	69_37n	rna	33	10.81	4	SNP	0.001	A
ORM2	5005	genome.wustl.edu	37	9	117093932	117093932	+	Missense_Mutation	SNP	G	G	T	rs376804960		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:117093932G>T	ENST00000431067.2	+	4	450	c.414G>T	c.(412-414)aaG>aaT	p.K138N	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	138					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	ACGATGAGAAGAACTGGGGGC	0.562																																					NSCLC(65;867 1308 1814 2391 12508)	dbGAP											0													147.0	130.0	136.0					9																	117093932		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.414G>T	9.37:g.117093932G>T	ENSP00000394936:p.Lys138Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop	p.K138N	ENST00000431067.2	37	c.414	CCDS6804.1	9	.	.	.	.	.	.	.	.	.	.	-	8.118	0.780219	0.16120	.	.	ENSG00000228278	ENST00000431067	T	0.08008	3.14	2.95	1.03	0.20045	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.175620	0.06178	N	0.678970	T	0.06280	0.0162	L	0.27053	0.805	0.09310	N	1	P	0.42871	0.792	B	0.39660	0.306	T	0.35674	-0.9779	10	0.30854	T	0.27	-5.2119	4.3056	0.10946	0.1358:0.236:0.6282:0.0	.	138	P19652	A1AG2_HUMAN	N	138	ENSP00000394936:K138N	ENSP00000394936:K138N	K	+	3	2	ORM2	116133753	0.002000	0.14202	0.000000	0.03702	0.013000	0.08279	-0.167000	0.09940	0.287000	0.22375	0.550000	0.68814	AAG	ORM2	-	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_ApoM,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop	ENSG00000228278		0.562	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORM2	HGNC	protein_coding	OTTHUMT00000055432.1	108	0.00	0	G	NM_000608		117093932	117093932	+1	no_errors	ENST00000431067	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	0.000	T
OSBPL10	114884	genome.wustl.edu	37	3	31871701	31871701	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:31871701C>T	ENST00000396556.2	-	4	682	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	OSBPL10_ENST00000467647.1_5'Flank|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	187					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AGTGAGACTTCGGCTTCGGGA	0.507																																						dbGAP											0													60.0	60.0	60.0					3																	31871701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.560G>A	3.37:g.31871701C>T	ENSP00000379804:p.Arg187Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E212|Q9BTU5	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R187Q	ENST00000396556.2	37	c.560	CCDS2651.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.157916	0.94686	.	.	ENSG00000144645	ENST00000396556	T	0.43688	0.94	5.54	5.54	0.83059	.	0.061993	0.64402	D	0.000012	T	0.56016	0.1957	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	P	0.62014	0.897	T	0.49679	-0.8914	10	0.14252	T	0.57	-4.8681	13.7363	0.62819	0.0:0.9262:0.0:0.0738	.	187	Q9BXB5	OSB10_HUMAN	Q	187	ENSP00000379804:R187Q	ENSP00000379804:R187Q	R	-	2	0	OSBPL10	31846705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.157000	0.64911	2.618000	0.88619	0.561000	0.74099	CGA	OSBPL10	-	NULL	ENSG00000144645		0.507	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2	154	0.64	1	C			31871701	31871701	-1	no_errors	ENST00000396556	ensembl	human	known	69_37n	missense	111	11.90	15	SNP	1.000	T
OSBPL1A	114876	genome.wustl.edu	37	18	21914262	21914262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:21914262C>A	ENST00000319481.3	-	6	633	c.427G>T	c.(427-429)Gaa>Taa	p.E143*		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	143	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAAAGTAATTCTTCAAGCTTT	0.348																																						dbGAP											0													126.0	115.0	118.0					18																	21914262		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.427G>T	18.37:g.21914262C>A	ENSP00000320291:p.Glu143*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7D3|Q9BZF5|Q9NW87	Nonsense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.E143*	ENST00000319481.3	37	c.427	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	38	7.001487	0.97994	.	.	ENSG00000141447	ENST00000319481	.	.	.	4.81	4.81	0.61882	.	0.110408	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.4463	17.8184	0.88642	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000320291:E143X	E	-	1	0	OSBPL1A	20168260	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.764000	0.68826	2.387000	0.81309	0.655000	0.94253	GAA	OSBPL1A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000141447		0.348	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	308	0.00	0	C	NM_080597		21914262	21914262	-1	no_errors	ENST00000319481	ensembl	human	known	69_37n	nonsense	241	14.84	42	SNP	1.000	A
OSBPL6	114880	genome.wustl.edu	37	2	179238674	179238674	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179238674C>T	ENST00000190611.4	+	15	1829	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454C|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	485					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAATGAGAGCCGCCTCTCCAT	0.488																																						dbGAP											0													113.0	100.0	105.0					2																	179238674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1453C>T	2.37:g.179238674C>T	ENSP00000190611:p.Arg485Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R489C	ENST00000190611.4	37	c.1465	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	c	20.7	4.032916	0.75504	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.15139	2.58;2.6;2.45;2.6;2.59;2.6;2.58	6.02	5.15	0.70609	.	0.110517	0.64402	D	0.000009	T	0.38348	0.1037	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.962;0.999;0.968;0.999;0.993;0.997	T	0.14783	-1.0460	10	0.56958	D	0.05	-7.0111	11.2079	0.48780	0.2406:0.6453:0.114:0.0	.	454;489;449;510;485;418	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	C	510;449;418;454;485;449;489	ENSP00000376293:R510C;ENSP00000352713:R449C;ENSP00000349591:R418C;ENSP00000387248:R454C;ENSP00000190611:R485C;ENSP00000386885:R449C;ENSP00000318723:R489C	ENSP00000190611:R485C	R	+	1	0	OSBPL6	178946920	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.829000	0.39121	1.578000	0.49821	-0.121000	0.15023	CGC	OSBPL6	-	NULL	ENSG00000079156		0.488	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	225	0.00	0	C	NM_032523		179238674	179238674	+1	no_errors	ENST00000315022	ensembl	human	known	69_37n	missense	176	11.56	23	SNP	1.000	T
OSBPL9	114883	genome.wustl.edu	37	1	52250249	52250249	+	Missense_Mutation	SNP	G	G	T	rs199528667		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:52250249G>T	ENST00000428468.1	+	20	1826	c.1824G>T	c.(1822-1824)gaG>gaT	p.E608D	OSBPL9_ENST00000447887.1_Missense_Mutation_p.E618D|OSBPL9_ENST00000531828.1_Missense_Mutation_p.E443D|OSBPL9_ENST00000453295.1_Missense_Mutation_p.E591D|OSBPL9_ENST00000435686.2_Missense_Mutation_p.E443D|OSBPL9_ENST00000462759.1_Missense_Mutation_p.E430D|OSBPL9_ENST00000530544.1_Missense_Mutation_p.E527D|OSBPL9_ENST00000486942.1_Missense_Mutation_p.E430D|OSBPL9_ENST00000337809.4_Missense_Mutation_p.E613D|OSBPL9_ENST00000371714.1_Missense_Mutation_p.E595D|OSBPL9_ENST00000361556.5_Missense_Mutation_p.E498D|OSBPL9_ENST00000371710.3_Missense_Mutation_p.E626D			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	608					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TTACTGCCGAGATTTTGTAGG	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22286	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													80.0	83.0	82.0					1																	52250249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1824G>T	1.37:g.52250249G>T	ENSP00000407168:p.Glu608Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E626D	ENST00000428468.1	37	c.1878	CCDS41332.3	1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	18.10	3.549247	0.65311	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.38	3.36	0.38483	.	0.044071	0.85682	D	0.000000	T	0.28699	0.0711	L	0.52364	1.645	0.53688	D	0.999974	B;B;P;B;P	0.41978	0.004;0.176;0.516;0.211;0.767	B;B;B;B;P	0.45610	0.01;0.132;0.401;0.326;0.487	T	0.09773	-1.0659	10	0.59425	D	0.04	-19.8881	3.0609	0.06199	0.2207:0.2793:0.5:0.0	.	591;498;624;608;613	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	D	595;626;613;618;443;608;591;527;443;498;430;430	ENSP00000360779:E595D;ENSP00000360775:E626D;ENSP00000337265:E613D;ENSP00000412733:E618D;ENSP00000402646:E443D;ENSP00000407168:E608D;ENSP00000413263:E591D;ENSP00000433675:E527D;ENSP00000433083:E443D;ENSP00000354970:E498D;ENSP00000433279:E430D;ENSP00000431980:E430D	ENSP00000337265:E613D	E	+	3	2	OSBPL9	52022837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.441000	0.35035	1.498000	0.48600	0.655000	0.94253	GAG	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	735	0.14	1	G			52250249	52250249	+1	no_errors	ENST00000371710	ensembl	human	known	69_37n	missense	476	12.98	71	SNP	1.000	T
OSGIN2	734	genome.wustl.edu	37	8	90937339	90937339	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:90937339C>A	ENST00000297438.2	+	6	1452	c.1097C>A	c.(1096-1098)tCt>tAt	p.S366Y	OSGIN2_ENST00000451899.2_Missense_Mutation_p.S410Y	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	366					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAGTCATATTCTGTAGACTCA	0.383																																						dbGAP											0													117.0	122.0	121.0					8																	90937339		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1097C>A	8.37:g.90937339C>A	ENSP00000297438:p.Ser366Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S410Y	ENST00000297438.2	37	c.1229	CCDS6248.1	8	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609289	0.28623	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.30714	1.52;1.52	5.36	5.36	0.76844	.	0.297486	0.36338	N	0.002655	T	0.33789	0.0875	L	0.50333	1.59	0.48040	D	0.999573	D;P	0.53312	0.959;0.956	B;P	0.44732	0.446;0.459	T	0.12863	-1.0531	10	0.62326	D	0.03	-20.4639	14.6789	0.69001	0.0:0.855:0.145:0.0	.	410;366	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	Y	366;410	ENSP00000297438:S366Y;ENSP00000396445:S410Y	ENSP00000297438:S366Y	S	+	2	0	OSGIN2	91006514	0.949000	0.32298	0.956000	0.39512	0.367000	0.29736	2.966000	0.49208	2.522000	0.85027	0.563000	0.77884	TCT	OSGIN2	-	NULL	ENSG00000164823		0.383	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	218	0.00	0	C	NM_004337		90937339	90937339	+1	no_errors	ENST00000451899	ensembl	human	known	69_37n	missense	125	27.33	47	SNP	0.308	A
OSR1	130497	genome.wustl.edu	37	2	19552969	19552969	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:19552969C>T	ENST00000272223.2	-	2	942	c.598G>A	c.(598-600)Gag>Aag	p.E200K	OSR1_ENST00000536433.1_Missense_Mutation_p.E200K	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	200					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				TAGGGCCGCTCGTCGGTGTGC	0.587																																						dbGAP											0													112.0	106.0	108.0					2																	19552969		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.598G>A	2.37:g.19552969C>T	ENSP00000272223:p.Glu200Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV97|D6W521	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E200K	ENST00000272223.2	37	c.598	CCDS1694.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.224290	0.95139	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.24350	1.86;1.86	5.94	5.94	0.96194	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046084	0.85682	D	0.000000	T	0.42944	0.1225	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04255	-1.0965	9	.	.	.	-30.7671	20.0187	0.97487	0.0:1.0:0.0:0.0	.	200	Q8TAX0	OSR1_HUMAN	K	200	ENSP00000272223:E200K;ENSP00000441801:E200K	.	E	-	1	0	OSR1	19416450	1.000000	0.71417	0.973000	0.42090	0.615000	0.37417	7.818000	0.86416	2.834000	0.97654	0.650000	0.86243	GAG	OSR1	-	pfscan_Znf_C2H2	ENSG00000143867		0.587	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	222	0.00	0	C	NM_145260		19552969	19552969	-1	no_errors	ENST00000272223	ensembl	human	known	69_37n	missense	109	25.34	37	SNP	1.000	T
OTC	5009	genome.wustl.edu	37	X	38240606	38240606	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:38240606C>A	ENST00000039007.4	+	4	462	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	OTC_ENST00000488812.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	104					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CTTTGCACTTCTGGGAGGACA	0.348																																						dbGAP											0													66.0	61.0	63.0					X																	38240606		2202	4300	6502	-	-	-	SO:0001583	missense	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.310C>A	X.37:g.38240606C>A	ENSP00000039007:p.Leu104Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans	p.L104M	ENST00000039007.4	37	c.310	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754354	0.49362	.	.	ENSG00000036473	ENST00000039007	D	0.99201	-5.55	5.8	4.94	0.65067	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99239	0.9735	M	0.84585	2.705	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	10	0.66056	D	0.02	13.7413	12.9063	0.58154	0.0:0.9187:0.0:0.0813	.	104	P00480	OTC_HUMAN	M	104	ENSP00000039007:L104M	ENSP00000039007:L104M	L	+	1	2	OTC	38125550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.884000	0.56175	1.214000	0.43395	0.600000	0.82982	CTG	OTC	-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans	ENSG00000036473		0.348	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	307	0.00	0	C			38240606	38240606	+1	no_errors	ENST00000039007	ensembl	human	known	69_37n	missense	197	11.66	26	SNP	1.000	A
OTOA	146183	genome.wustl.edu	37	16	21702948	21702948	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:21702948T>G	ENST00000286149.4	+	8	680	c.679T>G	c.(679-681)Tcc>Gcc	p.S227A	OTOA_ENST00000388958.3_Missense_Mutation_p.S227A|OTOA_ENST00000388956.4_Missense_Mutation_p.S148A			Q7RTW8	OTOAN_HUMAN	otoancorin	227					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGGCTCATTCCCAGAGAGC	0.483																																						dbGAP											0													103.0	93.0	96.0					16																	21702948		2199	4300	6499	-	-	-	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.679T>G	16.37:g.21702948T>G	ENSP00000286149:p.Ser227Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.S227A	ENST00000286149.4	37	c.679		16	.	.	.	.	.	.	.	.	.	.	T	6.950	0.545103	0.13312	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12672	2.66;2.66;2.66	5.27	-9.85	0.00476	.	0.909822	0.09352	N	0.813976	T	0.07908	0.0198	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.32322	-0.9911	10	0.39692	T	0.17	-0.4699	9.3083	0.37889	0.3628:0.0:0.4935:0.1438	.	148;227	B3KWU3;E9PF51	.;.	A	227;227;148	ENSP00000373610:S227A;ENSP00000286149:S227A;ENSP00000373608:S148A	ENSP00000286149:S227A	S	+	1	0	OTOA	21610449	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.810000	0.04505	-1.719000	0.01382	0.454000	0.30748	TCC	OTOA	-	NULL	ENSG00000155719		0.483	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	153	0.00	0	T			21702948	21702948	+1	no_errors	ENST00000286149	ensembl	human	known	69_37n	missense	109	16.15	21	SNP	0.000	G
OTOA	146183	genome.wustl.edu	37	16	21728238	21728238	+	Missense_Mutation	SNP	C	C	T	rs141037250		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:21728238C>T	ENST00000286149.4	+	14	1542	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	OTOA_ENST00000388958.3_Missense_Mutation_p.A500V|OTOA_ENST00000388957.3_Missense_Mutation_p.A176V|OTOA_ENST00000388956.4_Missense_Mutation_p.A421V			Q7RTW8	OTOAN_HUMAN	otoancorin	514					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ATGGTCCAAGCGGAAGACACT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		18713	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													143.0	134.0	137.0					16																	21728238		2199	4300	6499	-	-	-	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1541C>T	16.37:g.21728238C>T	ENSP00000286149:p.Ala514Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.A514V	ENST00000286149.4	37	c.1541		16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	9.785	1.176252	0.21704	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.08	-0.423	0.12325	.	0.580480	0.17700	N	0.164946	T	0.70081	0.3183	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.15141	0.002;0.002;0.012;0.002	B;B;B;B	0.11329	0.006;0.006;0.006;0.006	T	0.56601	-0.7952	10	0.38643	T	0.18	-1.2175	4.9146	0.13840	0.0:0.4629:0.2879:0.2492	.	514;421;176;500	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	V	500;514;421;176	ENSP00000373610:A500V;ENSP00000286149:A514V;ENSP00000373608:A421V;ENSP00000373609:A176V	ENSP00000286149:A514V	A	+	2	0	OTOA	21635739	0.377000	0.25106	0.000000	0.03702	0.000000	0.00434	0.709000	0.25734	-0.221000	0.09973	-1.779000	0.00650	GCG	OTOA	-	NULL	ENSG00000155719		0.458	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	135	0.74	1	C			21728238	21728238	+1	no_errors	ENST00000286149	ensembl	human	known	69_37n	missense	98	18.18	22	SNP	0.001	T
OTOGL	283310	genome.wustl.edu	37	12	80707269	80707269	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:80707269C>A	ENST00000547103.1	+	30	3443	c.3437C>A	c.(3436-3438)tCt>tAt	p.S1146Y	OTOGL_ENST00000458043.2_Missense_Mutation_p.S1146Y			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1146					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GACGTTACTTCTTTTGCCAAA	0.333																																						dbGAP											0													124.0	124.0	124.0					12																	80707269		2141	4273	6414	-	-	-	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.3437C>A	12.37:g.80707269C>A	ENSP00000447211:p.Ser1146Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S1146Y	ENST00000547103.1	37	c.3437		12	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187922	0.57909	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.77620	-1.11;-1.11	5.64	5.64	0.86602	.	.	.	.	.	T	0.81014	0.4735	L	0.40543	1.245	0.46749	D	0.999183	.	.	.	.	.	.	T	0.78640	-0.2125	7	0.38643	T	0.18	.	19.7093	0.96085	0.0:1.0:0.0:0.0	.	.	.	.	Y	1146	ENSP00000447211:S1146Y;ENSP00000400895:S1146Y	ENSP00000400895:S1146Y	S	+	2	0	OTOGL	79231400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.722000	0.61958	2.645000	0.89757	0.650000	0.86243	TCT	OTOGL	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000165899		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	191	0.00	0	C	NM_173591		80707269	80707269	+1	no_errors	ENST00000458043	ensembl	human	known	69_37n	missense	122	14.08	20	SNP	1.000	A
OTOL1	131149	genome.wustl.edu	37	3	161221501	161221501	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:161221501G>A	ENST00000327928.4	+	4	1205	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	402	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CGACCTGCTCGAATCAGTCTG	0.468																																						dbGAP											0													55.0	50.0	52.0					3																	161221501		1929	4129	6058	-	-	-	SO:0001583	missense	0				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1205G>A	3.37:g.161221501G>A	ENSP00000330808:p.Arg402Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.R402Q	ENST00000327928.4	37	c.1205	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250853	0.22880	.	.	ENSG00000182447	ENST00000327928	D	0.86030	-2.06	5.23	-0.0309	0.13912	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.122857	0.56097	N	0.000026	T	0.72045	0.3412	L	0.28608	0.87	0.09310	N	1	B	0.16802	0.019	B	0.17979	0.02	T	0.53620	-0.8413	10	0.14656	T	0.56	.	9.5741	0.39447	0.3889:0.0:0.6111:0.0	.	402	A6NHN0	OTOL1_HUMAN	Q	402	ENSP00000330808:R402Q	ENSP00000330808:R402Q	R	+	2	0	OTOL1	162704195	0.546000	0.26457	0.000000	0.03702	0.626000	0.37791	2.392000	0.44433	-0.337000	0.08426	-0.252000	0.11476	CGA	OTOL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000182447		0.468	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	811	0.00	0	G	NM_001080440		161221501	161221501	+1	no_errors	ENST00000327928	ensembl	human	known	69_37n	missense	361	13.01	54	SNP	0.030	A
OTOR	56914	genome.wustl.edu	37	20	16729139	16729139	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:16729139C>A	ENST00000246081.2	+	1	137	c.93C>A	c.(91-93)ctC>ctA	p.L31L		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	31			L -> P (in dbSNP:rs6135876). {ECO:0000269|Ref.6}.		cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CCAAGAAGCTCTGTGCAGATG	0.363																																						dbGAP											0													214.0	213.0	213.0					20																	16729139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.93C>A	20.37:g.16729139C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW22|Q3MIU6	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.L31	ENST00000246081.2	37	c.93	CCDS13124.1	20																																																																																			OTOR	-	superfamily_SH3_domain	ENSG00000125879		0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	HGNC	protein_coding	OTTHUMT00000078108.2	522	0.00	0	C			16729139	16729139	+1	no_errors	ENST00000246081	ensembl	human	known	69_37n	silent	297	15.14	53	SNP	0.997	A
OTUD3	23252	genome.wustl.edu	37	1	20220921	20220921	+	Missense_Mutation	SNP	G	G	T	rs375869805		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:20220921G>T	ENST00000375120.3	+	3	432	c.431G>T	c.(430-432)aGa>aTa	p.R144I	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	144	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTTTGCAAGAAATCATCAG	0.383																																						dbGAP											0													156.0	149.0	151.0					1																	20220921		1881	4114	5995	-	-	-	SO:0001583	missense	0			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.431G>T	1.37:g.20220921G>T	ENSP00000364261:p.Arg144Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75047	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.R144I	ENST00000375120.3	37	c.431	CCDS41279.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.379973	0.95945	.	.	ENSG00000169914	ENST00000375120	T	0.29397	1.57	5.92	5.92	0.95590	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.83692	2.655	0.80722	D	1	P	0.51933	0.949	P	0.55011	0.766	T	0.57579	-0.7787	10	0.56958	D	0.05	.	18.8852	0.92375	0.0:0.0:1.0:0.0	.	144	Q5T2D3	OTUD3_HUMAN	I	144	ENSP00000364261:R144I	ENSP00000364261:R144I	R	+	2	0	OTUD3	20093508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.628000	0.90979	2.804000	0.96469	0.655000	0.94253	AGA	OTUD3	-	pfam_OTU,pfscan_OTU	ENSG00000169914		0.383	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	355	0.00	0	G			20220921	20220921	+1	no_errors	ENST00000375120	ensembl	human	known	69_37n	missense	252	12.50	36	SNP	1.000	T
OTUD3	23252	genome.wustl.edu	37	1	20224047	20224047	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:20224047G>A	ENST00000375120.3	+	4	499	c.498G>A	c.(496-498)gaG>gaA	p.E166E	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	166	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTACAGAGAAAAGCAGCG	0.502																																						dbGAP											0													117.0	112.0	113.0					1																	20224047		2001	4179	6180	-	-	-	SO:0001819	synonymous_variant	0			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.498G>A	1.37:g.20224047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75047	Silent	SNP	pfam_OTU,pfscan_OTU	p.E166	ENST00000375120.3	37	c.498	CCDS41279.1	1																																																																																			OTUD3	-	pfam_OTU,pfscan_OTU	ENSG00000169914		0.502	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD3	HGNC	protein_coding	OTTHUMT00000007655.1	236	0.00	0	G			20224047	20224047	+1	no_errors	ENST00000375120	ensembl	human	known	69_37n	silent	154	14.44	26	SNP	0.901	A
OTUD4	54726	genome.wustl.edu	37	4	146059425	146059425	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:146059425C>A	ENST00000447906.2	-	21	2689	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.K769N			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	834					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GGAACATATTCTTGCCACTTA	0.463																																						dbGAP											0													79.0	75.0	77.0					4																	146059425		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2502G>T	4.37:g.146059425C>A	ENSP00000395487:p.Lys834Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.K834N	ENST00000447906.2	37	c.2502		4	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865450	0.51588	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.36520	1.26;1.25	5.79	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.45629	-0.9248	10	0.66056	D	0.02	-20.2356	9.4946	0.38980	0.0:0.7996:0.0:0.2004	.	834;833	G3V0I6;Q01804	.;OTUD4_HUMAN	N	769;834	ENSP00000409279:K769N;ENSP00000395487:K834N	ENSP00000395487:K834N	K	-	3	2	OTUD4	146278875	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	2.021000	0.41020	1.464000	0.47987	-0.253000	0.11424	AAG	OTUD4	-	NULL	ENSG00000164164		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	114	0.00	0	C	NM_017493		146059425	146059425	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	missense	81	11.96	11	SNP	1.000	A
OTUD7A	161725	genome.wustl.edu	37	15	31776839	31776839	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:31776839G>A	ENST00000307050.4	-	11	1531	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	OTUD7A_ENST00000382902.1_Missense_Mutation_p.S487L	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	480					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCTGCACACCGAATCGCGGTC	0.637																																						dbGAP											0													76.0	54.0	61.0					15																	31776839		2191	4299	6490	-	-	-	SO:0001583	missense	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1439C>T	15.37:g.31776839G>A	ENSP00000305926:p.Ser480Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWK5	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S487L	ENST00000307050.4	37	c.1460	CCDS10026.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114398	0.77210	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.35236	1.32;1.32	4.35	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	M	0.67953	2.075	0.40136	D	0.976777	P;P	0.52577	0.954;0.923	B;B	0.41619	0.361;0.198	T	0.33163	-0.9879	10	0.30078	T	0.28	-16.565	13.988	0.64348	0.0:0.0:0.8477:0.1523	.	487;480	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	L	480;487	ENSP00000305926:S480L;ENSP00000372358:S487L	ENSP00000305926:S480L	S	-	2	0	OTUD7A	29564131	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	6.987000	0.76206	0.936000	0.37367	0.655000	0.94253	TCG	OTUD7A	-	NULL	ENSG00000169918		0.637	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	18	0.00	0	G	NM_130901		31776839	31776839	-1	no_errors	ENST00000382902	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149916432	149916432	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:149916432T>C	ENST00000369135.4	-	12	2150	c.1856A>G	c.(1855-1857)cAc>cGc	p.H619R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	619					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTGGTGACGGTGACCCATCTT	0.512																																						dbGAP											0													147.0	150.0	149.0					1																	149916432		2030	4196	6226	-	-	-	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1856A>G	1.37:g.149916432T>C	ENSP00000358131:p.His619Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.H619R	ENST00000369135.4	37	c.1856	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648833	0.29336	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.30182	1.54	4.81	3.64	0.41730	.	0.142950	0.64402	D	0.000006	T	0.14013	0.0339	L	0.42245	1.32	0.34483	D	0.704091	B	0.33512	0.415	B	0.41088	0.347	T	0.08493	-1.0719	9	.	.	.	-30.9429	7.3306	0.26580	0.1425:0.0:0.1484:0.7091	.	619	Q6GQQ9	OTU7B_HUMAN	R	619	ENSP00000358131:H619R	.	H	-	2	0	OTUD7B	148183056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.034000	0.49751	0.811000	0.34303	0.455000	0.32223	CAC	OTUD7B	-	NULL	ENSG00000163113		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	68	0.00	0	T	NM_020205		149916432	149916432	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	1.000	C
OTX2	5015	genome.wustl.edu	37	14	57268613	57268613	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:57268613G>T	ENST00000555006.1	-	4	1118	c.710C>A	c.(709-711)tCt>tAt	p.S237Y	OTX2_ENST00000408990.3_Missense_Mutation_p.S237Y|OTX2_ENST00000554788.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Missense_Mutation_p.S245Y			P32243	OTX2_HUMAN	orthodenticle homeobox 2	237					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGTGGAAAGAGAAGCTGGGGA	0.507																																						dbGAP											0													122.0	117.0	119.0					14																	57268613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.710C>A	14.37:g.57268613G>T	ENSP00000452336:p.Ser237Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Otx2_TF,prints_Otx_TF,pfscan_Homeodomain	p.S245Y	ENST00000555006.1	37	c.734	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307934	0.40895	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.91180	-2.8;-2.79;-2.79	5.65	5.65	0.86999	.	0.000000	0.46442	D	0.000297	D	0.91968	0.7456	M	0.79805	2.47	0.80722	D	1	B;P	0.48503	0.251;0.911	B;B	0.43018	0.265;0.405	D	0.92638	0.6122	10	0.59425	D	0.04	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	245;237	F1T0D1;P32243	.;OTX2_HUMAN	Y	245;237;237	ENSP00000343819:S245Y;ENSP00000386185:S237Y;ENSP00000452336:S237Y	ENSP00000343819:S245Y	S	-	2	0	OTX2	56338366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.941000	0.99782	0.655000	0.94253	TCT	OTX2	-	prints_Otx2_TF	ENSG00000165588		0.507	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1	240	0.00	0	G	NM_021728.		57268613	57268613	-1	no_errors	ENST00000339475	ensembl	human	known	69_37n	missense	131	11.49	17	SNP	1.000	T
OVGP1	5016	genome.wustl.edu	37	1	111957920	111957920	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:111957920C>A	ENST00000369732.3	-	11	1258	c.1203G>T	c.(1201-1203)gtG>gtT	p.V401V	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	401					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGAAGAATTCACAGCAGATG	0.458																																						dbGAP											0													57.0	55.0	56.0					1																	111957920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1203G>T	1.37:g.111957920C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV19|B9EGE1|Q15841	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.V401	ENST00000369732.3	37	c.1203	CCDS834.1	1																																																																																			OVGP1	-	NULL	ENSG00000085465		0.458	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	159	0.00	0	C	NM_002557		111957920	111957920	-1	no_errors	ENST00000369732	ensembl	human	known	69_37n	silent	103	20.77	27	SNP	0.004	A
OVGP1	5016	genome.wustl.edu	37	1	111958951	111958951	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:111958951G>A	ENST00000369732.3	-	10	1205	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	384					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTACCAGCCCGCACCAGGATA	0.542																																						dbGAP											0													110.0	92.0	98.0					1																	111958951		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1150C>T	1.37:g.111958951G>A	ENSP00000358747:p.Arg384Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.R384W	ENST00000369732.3	37	c.1150	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586616	0.66105	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.04406	3.63	5.06	-4.24	0.03777	Glycoside hydrolase, subgroup, catalytic domain (1);	1.790910	0.02236	N	0.065309	T	0.03348	0.0097	N	0.19112	0.55	0.09310	N	1	D;D	0.89917	0.985;1.0	P;P	0.61477	0.889;0.841	T	0.31558	-0.9939	10	0.66056	D	0.02	-0.0796	10.2592	0.43416	0.0:0.1856:0.1499:0.6644	.	384;448	Q12889;Q59HH5	OVGP1_HUMAN;.	W	384;448;192	ENSP00000358747:R384W	ENSP00000358743:R448W	R	-	1	2	OVGP1	111760474	0.006000	0.16342	0.001000	0.08648	0.474000	0.32979	0.141000	0.16076	-0.633000	0.05545	-0.230000	0.12252	CGG	OVGP1	-	NULL	ENSG00000085465		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	456	0.22	1	G	NM_002557		111958951	111958951	-1	no_errors	ENST00000369732	ensembl	human	known	69_37n	missense	283	12.07	39	SNP	0.000	A
OVOL1	5017	genome.wustl.edu	37	11	65562749	65562749	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65562749G>A	ENST00000335987.3	+	4	1093	c.741G>A	c.(739-741)aaG>aaA	p.K247K	RP11-770G2.5_ENST00000531155.1_RNA|OVOL1_ENST00000532448.1_Silent_p.K185K	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	247					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		AGACCTCCAAGAAGGTGGCCG	0.647																																						dbGAP											0													67.0	58.0	61.0					11																	65562749		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.741G>A	11.37:g.65562749G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PCB1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K247	ENST00000335987.3	37	c.741	CCDS8112.1	11																																																																																			OVOL1	-	NULL	ENSG00000172818		0.647	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL1	HGNC	protein_coding	OTTHUMT00000390690.1	31	0.00	0	G	NM_004561		65562749	65562749	+1	no_errors	ENST00000335987	ensembl	human	known	69_37n	silent	12	45.45	10	SNP	1.000	A
OXCT1	5019	genome.wustl.edu	37	5	41739516	41739516	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41739516C>A	ENST00000196371.5	-	16	1657	c.1497G>T	c.(1495-1497)caG>caT	p.Q499H	OXCT1_ENST00000509987.1_Missense_Mutation_p.Q313H|OXCT1_ENST00000512084.1_Missense_Mutation_p.Q102H|OXCT1_ENST00000510634.1_Missense_Mutation_p.Q102H	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	499					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CAGTACTCTTCTGTACGTCAT	0.433																																						dbGAP											0													151.0	135.0	140.0					5																	41739516		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1497G>T	5.37:g.41739516C>A	ENSP00000196371:p.Gln499His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V2|B7Z528	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.Q499H	ENST00000196371.5	37	c.1497	CCDS3937.1	5	.	.	.	.	.	.	.	.	.	.	C	10.59	1.394112	0.25205	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	6.16	-3.7	0.04437	3-oxoacid CoA-transferase, subunit B (1);	0.279884	0.37906	N	0.001884	D	0.85383	0.5684	M	0.82433	2.59	0.23361	N	0.997838	B	0.02656	0.0	B	0.04013	0.001	T	0.72693	-0.4216	10	0.56958	D	0.05	-3.396	13.6245	0.62157	0.102:0.789:0.0:0.1091	.	499	P55809	SCOT1_HUMAN	H	499;102;102;313	ENSP00000196371:Q499H;ENSP00000421143:Q102H;ENSP00000423144:Q102H;ENSP00000425348:Q313H	ENSP00000196371:Q499H	Q	-	3	2	OXCT1	41775273	0.954000	0.32549	0.005000	0.12908	0.314000	0.28054	-0.076000	0.11412	-1.117000	0.02965	0.650000	0.86243	CAG	OXCT1	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B	ENSG00000083720		0.433	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT1	HGNC	protein_coding	OTTHUMT00000211594.2	178	0.00	0	C	NM_000436		41739516	41739516	-1	no_errors	ENST00000196371	ensembl	human	known	69_37n	missense	151	21.76	42	SNP	0.905	A
OXCT1	5019	genome.wustl.edu	37	5	41801159	41801159	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41801159C>T	ENST00000196371.5	-	11	1224	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	OXCT1_ENST00000509987.1_Missense_Mutation_p.R169Q	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	355					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTCATGTTGTCGTGGATATGG	0.338																																						dbGAP											0													129.0	115.0	120.0					5																	41801159		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1064G>A	5.37:g.41801159C>T	ENSP00000196371:p.Arg355Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V2|B7Z528	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.R355Q	ENST00000196371.5	37	c.1064	CCDS3937.1	5	.	.	.	.	.	.	.	.	.	.	C	9.368	1.069856	0.20147	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.87029	-2.2;-2.2	6.17	5.02	0.67125	3-oxoacid CoA-transferase, subunit B (1);	0.483751	0.20737	N	0.086610	T	0.80166	0.4573	L	0.37750	1.13	0.09310	N	1	B	0.26845	0.161	B	0.22386	0.039	T	0.65121	-0.6245	10	0.22706	T	0.39	-0.0581	11.8507	0.52410	0.8464:0.1536:0.0:0.0	.	355	P55809	SCOT1_HUMAN	Q	355;169	ENSP00000196371:R355Q;ENSP00000425348:R169Q	ENSP00000196371:R355Q	R	-	2	0	OXCT1	41836916	0.222000	0.23652	0.001000	0.08648	0.835000	0.47333	4.030000	0.57260	1.162000	0.42619	-0.262000	0.10625	CGA	OXCT1	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B	ENSG00000083720		0.338	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT1	HGNC	protein_coding	OTTHUMT00000211594.2	267	0.00	0	C	NM_000436		41801159	41801159	-1	no_errors	ENST00000196371	ensembl	human	known	69_37n	missense	159	11.17	20	SNP	0.006	T
OXCT1	5019	genome.wustl.edu	37	5	41803188	41803188	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41803188T>G	ENST00000196371.5	-	10	1193	c.1033A>C	c.(1033-1035)Aat>Cat	p.N345H	OXCT1_ENST00000509987.1_Missense_Mutation_p.N159H	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	345					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	AGAACTCCATTTTCACTTTGA	0.313																																						dbGAP											0													88.0	97.0	94.0					5																	41803188		2203	4300	6503	-	-	-	SO:0001583	missense	0			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1033A>C	5.37:g.41803188T>G	ENSP00000196371:p.Asn345His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V2|B7Z528	Missense_Mutation	SNP	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A	p.N345H	ENST00000196371.5	37	c.1033	CCDS3937.1	5	.	.	.	.	.	.	.	.	.	.	T	23.5	4.419756	0.83559	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.88664	-2.41;-2.41	6.04	6.04	0.98038	3-oxoacid CoA-transferase, subunit B (1);	0.045357	0.85682	D	0.000000	D	0.97108	0.9055	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98718	1.0707	10	0.87932	D	0	-27.739	15.5711	0.76337	0.0:0.0:0.0:1.0	.	345	P55809	SCOT1_HUMAN	H	345;159	ENSP00000196371:N345H;ENSP00000425348:N159H	ENSP00000196371:N345H	N	-	1	0	OXCT1	41838945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.572000	0.82409	2.317000	0.78254	0.460000	0.39030	AAT	OXCT1	-	pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B	ENSG00000083720		0.313	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXCT1	HGNC	protein_coding	OTTHUMT00000211594.2	180	0.55	1	T	NM_000436		41803188	41803188	-1	no_errors	ENST00000196371	ensembl	human	known	69_37n	missense	109	15.50	20	SNP	1.000	G
OXGR1	27199	genome.wustl.edu	37	13	97639804	97639804	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:97639804G>T	ENST00000298440.1	-	4	453	c.210C>A	c.(208-210)atC>atA	p.I70I	OXGR1_ENST00000543457.1_Silent_p.I70I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	70					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCAGCATAATGATGGTGCTGC	0.453																																						dbGAP											0													114.0	106.0	109.0					13																	97639804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.210C>A	13.37:g.97639804G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5A7|Q86TL1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.I70	ENST00000298440.1	37	c.210	CCDS9482.1	13																																																																																			OXGR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000165621		0.453	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	368	0.27	1	G	NM_080818		97639804	97639804	-1	no_errors	ENST00000298440	ensembl	human	known	69_37n	silent	259	19.06	61	SNP	0.997	T
OXR1	55074	genome.wustl.edu	37	8	107719114	107719114	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:107719114G>T	ENST00000442977.2	+	8	1467	c.1368G>T	c.(1366-1368)gaG>gaT	p.E456D	OXR1_ENST00000531443.1_Missense_Mutation_p.E455D|OXR1_ENST00000445937.1_Missense_Mutation_p.E455D|OXR1_ENST00000312046.6_Missense_Mutation_p.E448D|OXR1_ENST00000517566.2_Missense_Mutation_p.E455D|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Missense_Mutation_p.E388D	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	456					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.E367D(1)|p.E456D(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTCTTCATGAGAATTCGTTAC	0.353																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											68.0	68.0	68.0					8																	107719114		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1368G>T	8.37:g.107719114G>T	ENSP00000405424:p.Glu456Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.E456D	ENST00000442977.2	37	c.1368	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.843|2.843	-0.240085|-0.240085	0.05944|0.05944	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.25912|.	2.65;2.65;2.64;2.64;1.77;2.64|.	5.62|5.62	2.78|2.78	0.32641|0.32641	.|.	0.831709|.	0.11163|.	N|.	0.592844|.	T|T	0.39384|0.39384	0.1076|0.1076	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B;B|.	0.14438|.	0.007;0.007;0.007;0.006;0.01|.	B;B;B;B;B|.	0.11329|.	0.006;0.003;0.003;0.006;0.006|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.25106|.	T|.	0.35|.	-17.4206|-17.4206	4.3546|4.3546	0.11172|0.11172	0.3046:0.0:0.5426:0.1528|0.3046:0.0:0.5426:0.1528	.|.	448;456;455;388;455|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.;.|.	D|I	455;455;455;456;388;448|169	ENSP00000402918:E455D;ENSP00000431966:E455D;ENSP00000429205:E455D;ENSP00000405424:E456D;ENSP00000431014:E388D;ENSP00000311026:E448D|.	ENSP00000311026:E448D|.	E|R	+|+	3|2	2|0	OXR1|OXR1	107788290|107788290	0.001000|0.001000	0.12720|0.12720	0.018000|0.018000	0.16275|0.16275	0.029000|0.029000	0.11900|0.11900	0.244000|0.244000	0.18124|0.18124	0.706000|0.706000	0.31912|0.31912	0.591000|0.591000	0.81541|0.81541	GAG|AGA	OXR1	-	NULL	ENSG00000164830		0.353	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		155	0.00	0	G	NM_181354		107719114	107719114	+1	no_errors	ENST00000442977	ensembl	human	known	69_37n	missense	109	14.73	19	SNP	0.000	T
OXR1	55074	genome.wustl.edu	37	8	107726113	107726113	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:107726113G>A	ENST00000442977.2	+	10	1958	c.1859G>A	c.(1858-1860)gGc>gAc	p.G620D	OXR1_ENST00000531443.1_Missense_Mutation_p.G619D|OXR1_ENST00000445937.1_Missense_Mutation_p.G619D|OXR1_ENST00000312046.6_Missense_Mutation_p.G612D|OXR1_ENST00000517566.2_Missense_Mutation_p.G619D|OXR1_ENST00000452423.2_Missense_Mutation_p.G109D	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	620					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAAGATACTGGCGAATATACC	0.383																																						dbGAP											0													109.0	115.0	112.0					8																	107726113		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1859G>A	8.37:g.107726113G>A	ENSP00000405424:p.Gly620Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.G620D	ENST00000442977.2	37	c.1859	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.081685|4.081685	0.76528|0.76528	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	.|T;T;T;T;T;T	.|0.18174	.|2.69;2.69;2.64;2.23;2.63;2.68	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.161107	.|0.56097	.|D	.|0.000023	T|T	0.40670|0.40670	0.1126|0.1126	L|L	0.61036|0.61036	1.89|1.89	0.42132|0.42132	D|D	0.991473|0.991473	.|D;D;D;D	.|0.76494	.|0.993;0.999;0.999;0.999	.|D;D;D;D	.|0.71414	.|0.917;0.965;0.965;0.973	T|T	0.01935|0.01935	-1.1244|-1.1244	5|10	.|0.30078	.|T	.|0.28	-15.5796|-15.5796	19.9765|19.9765	0.97312|0.97312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|612;620;619;619	.|Q8N573-2;Q8N573;D3HIS6;Q8N573-5	.|.;OXR1_HUMAN;.;.	T|D	333|619;619;619;109;620;612	.|ENSP00000402918:G619D;ENSP00000431966:G619D;ENSP00000429205:G619D;ENSP00000395032:G109D;ENSP00000405424:G620D;ENSP00000311026:G612D	.|ENSP00000311026:G612D	A|G	+|+	1|2	0|0	OXR1|OXR1	107795289|107795289	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	6.778000|6.778000	0.75043|0.75043	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	GCG|GGC	OXR1	-	NULL	ENSG00000164830		0.383	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		103	0.00	0	G	NM_181354		107726113	107726113	+1	no_errors	ENST00000442977	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	1.000	A
OXR1	55074	genome.wustl.edu	37	8	107751708	107751708	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:107751708A>G	ENST00000442977.2	+	12	2162	c.2063A>G	c.(2062-2064)aAt>aGt	p.N688S	OXR1_ENST00000531443.1_Missense_Mutation_p.N660S|OXR1_ENST00000445937.1_Missense_Mutation_p.N660S|OXR1_ENST00000312046.6_Missense_Mutation_p.N653S|OXR1_ENST00000449762.2_Missense_Mutation_p.N30S|OXR1_ENST00000517566.2_Missense_Mutation_p.N687S|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000297447.6_Missense_Mutation_p.N57S|OXR1_ENST00000521592.1_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	688					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAAGACATAAATTCAAAGCAG	0.358																																						dbGAP											0													98.0	95.0	96.0					8																	107751708		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2063A>G	8.37:g.107751708A>G	ENSP00000405424:p.Asn688Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.N688S	ENST00000442977.2	37	c.2063	CCDS56548.1	8	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520384	0.44866	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447	T;T;T;T;T;T;T	0.22336	2.77;2.77;2.75;2.75;2.76;1.96;1.96	5.58	3.19	0.36642	.	0.230823	0.49916	N	0.000140	T	0.22085	0.0532	M	0.68317	2.08	0.80722	D	1	B;B;B;B;B	0.26876	0.073;0.162;0.0;0.011;0.154	B;B;B;B;B	0.30782	0.042;0.043;0.001;0.014;0.12	T	0.03193	-1.1062	10	0.16896	T	0.51	-10.2451	10.368	0.44035	0.8607:0.0:0.1393:0.0	.	653;688;30;57;660	Q8N573-2;Q8N573;B7Z8N5;Q8N573-4;Q8N573-5	.;OXR1_HUMAN;.;.;.	S	660;660;687;688;653;30;57	ENSP00000402918:N660S;ENSP00000431966:N660S;ENSP00000429205:N687S;ENSP00000405424:N688S;ENSP00000311026:N653S;ENSP00000408659:N30S;ENSP00000297447:N57S	ENSP00000297447:N57S	N	+	2	0	OXR1	107820884	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.231000	0.43009	1.060000	0.40578	0.533000	0.62120	AAT	OXR1	-	NULL	ENSG00000164830		0.358	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		133	0.00	0	A	NM_181354		107751708	107751708	+1	no_errors	ENST00000442977	ensembl	human	known	69_37n	missense	112	13.85	18	SNP	1.000	G
PABPC3	5042	genome.wustl.edu	37	13	25671782	25671782	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:25671782G>T	ENST00000281589.3	+	1	1483	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	482					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CATCAACACAGACAGTGGGTC	0.547																																						dbGAP											0													69.0	63.0	65.0					13																	25671782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1446G>T	13.37:g.25671782G>T	ENSP00000281589:p.Gln482His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.Q482H	ENST00000281589.3	37	c.1446	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137818	0.37728	.	.	ENSG00000151846	ENST00000281589	T	0.31769	1.48	0.875	0.875	0.19130	.	0.000000	0.45126	U	0.000385	T	0.39708	0.1088	M	0.88105	2.93	0.46376	D	0.999018	P	0.35844	0.524	B	0.40982	0.345	T	0.35425	-0.9789	10	0.46703	T	0.11	.	7.5489	0.27783	0.0:0.0:1.0:0.0	.	482	Q9H361	PABP3_HUMAN	H	482	ENSP00000281589:Q482H	ENSP00000281589:Q482H	Q	+	3	2	PABPC3	24569782	1.000000	0.71417	0.798000	0.32154	0.133000	0.20885	1.124000	0.31320	0.759000	0.33084	0.313000	0.20887	CAG	PABPC3	-	tigrfam_PABP_1234	ENSG00000151846		0.547	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	104	0.00	0	G	NM_030979		25671782	25671782	+1	no_errors	ENST00000281589	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.998	T
PABPC4L	132430	genome.wustl.edu	37	4	135121241	135121241	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:135121241C>T	ENST00000421491.3	-	2	1190	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PABPC4L_ENST00000529122.2_Missense_Mutation_p.E370K			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	312	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						GAAGAAAATTCGTTTCGTAGT	0.443																																						dbGAP											0													205.0	175.0	184.0					4																	135121241		692	1591	2283	-	-	-	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.934G>A	4.37:g.135121241C>T	ENSP00000463233:p.Glu312Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.E370K	ENST00000421491.3	37	c.1108		4																																																																																			PABPC4L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000254535		0.443	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	385	0.00	0	C	NM_001114734		135121241	135121241	-1	no_errors	ENST00000529122	ensembl	human	known	69_37n	missense	142	13.41	22	SNP	0.999	T
PABPC4L	132430	genome.wustl.edu	37	4	135121643	135121643	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:135121643G>A	ENST00000421491.3	-	2	788	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	PABPC4L_ENST00000529122.2_Missense_Mutation_p.R236C			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	178							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						TCAGCTTCACGATCTTTTCGG	0.433																																						dbGAP											0													194.0	156.0	167.0					4																	135121643		692	1591	2283	-	-	-	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.532C>T	4.37:g.135121643G>A	ENSP00000463233:p.Arg178Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R236C	ENST00000421491.3	37	c.706		4																																																																																			PABPC4L	-	tigrfam_PABP_1234	ENSG00000254535		0.433	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	253	0.00	0	G	NM_001114734		135121643	135121643	-1	no_errors	ENST00000529122	ensembl	human	known	69_37n	missense	70	35.45	39	SNP	1.000	A
PABPC4L	132430	genome.wustl.edu	37	4	135121866	135121866	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:135121866C>A	ENST00000421491.3	-	2	565	c.309G>T	c.(307-309)aaG>aaT	p.K103N	PABPC4L_ENST00000529122.2_Missense_Mutation_p.K161N			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	103	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						tgtccagattcttgatgaata	0.413																																						dbGAP											0													93.0	74.0	80.0					4																	135121866		692	1591	2283	-	-	-	SO:0001583	missense	0			AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.309G>T	4.37:g.135121866C>A	ENSP00000463233:p.Lys103Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.K161N	ENST00000421491.3	37	c.483		4																																																																																			PABPC4L	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000254535		0.413	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	PABPC4L	HGNC	protein_coding	OTTHUMT00000364399.2	109	0.00	0	C	NM_001114734		135121866	135121866	-1	no_errors	ENST00000529122	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	1.000	A
PACSIN1	29993	genome.wustl.edu	37	6	34497536	34497536	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:34497536C>A	ENST00000538621.1	+	6	951	c.706C>A	c.(706-708)Caa>Aaa	p.Q236K	PACSIN1_ENST00000374043.2_Missense_Mutation_p.Q194K|PACSIN1_ENST00000244458.2_Missense_Mutation_p.Q236K	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	236	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCAATGCCAGCAATTTGAGGA	0.542																																						dbGAP											0													108.0	89.0	96.0					6																	34497536		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.706C>A	6.37:g.34497536C>A	ENSP00000439639:p.Gln236Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2G8	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.Q236K	ENST00000538621.1	37	c.706	CCDS4793.1	6	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946913	0.53186	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.39997	1.05;2.65;1.05	4.01	4.01	0.46588	.	0.122213	0.56097	D	0.000027	T	0.49184	0.1542	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.54715	-0.8252	10	0.09338	T	0.73	-0.912	16.2659	0.82579	0.0:1.0:0.0:0.0	.	236	Q9BY11	PACN1_HUMAN	K	236;194;236;236	ENSP00000244458:Q236K;ENSP00000363155:Q194K;ENSP00000439639:Q236K	ENSP00000244458:Q236K	Q	+	1	0	PACSIN1	34605514	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.659000	0.61504	2.231000	0.72958	0.557000	0.71058	CAA	PACSIN1	-	NULL	ENSG00000124507		0.542	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN1	HGNC	protein_coding	OTTHUMT00000040236.1	185	0.00	0	C			34497536	34497536	+1	no_errors	ENST00000244458	ensembl	human	known	69_37n	missense	88	27.87	34	SNP	1.000	A
PADI1	29943	genome.wustl.edu	37	1	17548864	17548864	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:17548864C>T	ENST00000375471.4	+	2	264	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	58					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R58S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAACCGCACACGTGTGAAAGA	0.552																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											134.0	124.0	127.0					1																	17548864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.172C>T	1.37:g.17548864C>T	ENSP00000364620:p.Arg58Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.R58C	ENST00000375471.4	37	c.172	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	c	9.679	1.148786	0.21288	.	.	ENSG00000142623	ENST00000375471	T	0.09255	3.0	3.87	-0.958	0.10347	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	1.671480	0.04167	U	0.324210	T	0.19565	0.0470	M	0.61703	1.905	0.09310	N	1	D	0.69078	0.997	P	0.56042	0.79	T	0.19614	-1.0300	10	0.56958	D	0.05	-1.4403	1.3895	0.02247	0.3831:0.3186:0.1749:0.1234	.	58	Q9ULC6	PADI1_HUMAN	C	58	ENSP00000364620:R58C	ENSP00000364620:R58C	R	+	1	0	PADI1	17421451	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.318000	0.08050	0.201000	0.20466	0.306000	0.20318	CGT	PADI1	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.552	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	362	0.27	1	C	NM_013358		17548864	17548864	+1	no_errors	ENST00000375471	ensembl	human	known	69_37n	missense	247	12.68	36	SNP	0.000	T
PAH	5053	genome.wustl.edu	37	12	103234255	103234255	+	Missense_Mutation	SNP	C	C	T	rs79931499	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:103234255C>T	ENST00000553106.1	-	12	1710	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	PAH_ENST00000307000.2_Missense_Mutation_p.R408H	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	413			R -> P (in non-PKU HPA and PKU; haplotype 4). {ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:9852673}.|R -> S (in PKU; haplotype 1).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TGGGTCGTAGCGAACTGAGAA	0.453													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16926	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			GRCh37	CM920563	PAH	M	rs79931499						172.0	154.0	160.0					12																	103234255		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1238G>A	12.37:g.103234255C>T	ENSP00000448059:p.Arg413His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.R413H	ENST00000553106.1	37	c.1238	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047534	0.36085	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99671	-6.35;-6.35	5.63	-1.62	0.08372	Aromatic amino acid hydroxylase, C-terminal (4);	0.144791	0.64402	N	0.000004	D	0.98513	0.9504	M	0.76574	2.34	0.80722	D	1	B	0.13145	0.007	B	0.15484	0.013	D	0.93129	0.6531	10	0.40728	T	0.16	-2.2655	11.1608	0.48514	0.0:0.5529:0.0:0.4471	.	413	P00439	PH4H_HUMAN	H	413;408	ENSP00000448059:R413H;ENSP00000303500:R408H	ENSP00000303500:R408H	R	-	2	0	PAH	101758385	0.936000	0.31750	0.508000	0.27688	0.667000	0.39255	0.731000	0.26058	-0.681000	0.05204	-1.020000	0.02445	CGC	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.453	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	387	0.26	1	C			103234255	103234255	-1	no_errors	ENST00000553106	ensembl	human	known	69_37n	missense	283	14.71	49	SNP	0.983	T
PAK1IP1	55003	genome.wustl.edu	37	6	10707689	10707689	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:10707689T>C	ENST00000379568.3	+	8	1073	c.782T>C	c.(781-783)gTt>gCt	p.V261A		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	261					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GAGCATCATGTTATTGTTTCA	0.338																																						dbGAP											0													241.0	220.0	227.0					6																	10707689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.782T>C	6.37:g.10707689T>C	ENSP00000368887:p.Val261Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V261A	ENST00000379568.3	37	c.782	CCDS34339.1	6	.	.	.	.	.	.	.	.	.	.	T	20.5	4.005465	0.74932	.	.	ENSG00000111845	ENST00000379568	T	0.36340	1.26	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.168201	0.52532	D	0.000068	T	0.36220	0.0959	M	0.77313	2.365	0.39761	D	0.972029	B	0.33549	0.417	B	0.43194	0.411	T	0.27262	-1.0079	10	0.33141	T	0.24	-6.3808	14.0363	0.64646	0.0:0.0:0.0:1.0	.	261	Q9NWT1	PK1IP_HUMAN	A	261	ENSP00000368887:V261A	ENSP00000368887:V261A	V	+	2	0	PAK1IP1	10815675	0.991000	0.36638	0.053000	0.19242	0.957000	0.61999	6.435000	0.73412	2.191000	0.70037	0.533000	0.62120	GTT	PAK1IP1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000111845		0.338	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1IP1	HGNC	protein_coding	OTTHUMT00000039835.1	612	0.00	0	T	NM_017906		10707689	10707689	+1	no_errors	ENST00000379568	ensembl	human	known	69_37n	missense	407	24.58	133	SNP	0.459	C
PAK3	5063	genome.wustl.edu	37	X	110439164	110439164	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:110439164A>C	ENST00000372010.1	+	16	1692	c.1250A>C	c.(1249-1251)aAa>aCa	p.K417T	PAK3_ENST00000417227.1_Missense_Mutation_p.K423T|PAK3_ENST00000446737.1_Missense_Mutation_p.K402T|PAK3_ENST00000360648.4_Missense_Mutation_p.K438T|PAK3_ENST00000425146.1_Missense_Mutation_p.K402T|PAK3_ENST00000262836.4_Missense_Mutation_p.K417T|PAK3_ENST00000372007.5_Missense_Mutation_p.K402T|PAK3_ENST00000518291.1_Missense_Mutation_p.K438T|PAK3_ENST00000519681.1_Missense_Mutation_p.K423T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	417	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGCTCTGTTAAATTGAGTAGG	0.363										TSP Lung(19;0.15)																												dbGAP											0													115.0	112.0	113.0					X																	110439164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1250A>C	X.37:g.110439164A>C	ENSP00000361080:p.Lys417Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.K438T	ENST00000372010.1	37	c.1313	CCDS48153.1	X	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386293	0.82902	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	H	0.96489	3.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.77267	-0.2651	10	0.87932	D	0	.	14.7474	0.69499	1.0:0.0:0.0:0.0	.	423;438;417;402;417	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	T	402;402;417;423;402;438;438;423;417	ENSP00000410853:K402T;ENSP00000401982:K402T;ENSP00000361080:K417T;ENSP00000429113:K423T;ENSP00000361077:K402T;ENSP00000428921:K438T;ENSP00000353864:K438T;ENSP00000389172:K423T;ENSP00000262836:K417T	ENSP00000262836:K417T	K	+	2	0	PAK3	110325820	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.607000	0.90891	1.932000	0.55993	0.481000	0.45027	AAA	PAK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000077264		0.363	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAK3	HGNC	protein_coding	OTTHUMT00000057918.1	377	0.26	1	A	NM_002578		110439164	110439164	+1	no_errors	ENST00000360648	ensembl	human	known	69_37n	missense	250	15.54	46	SNP	1.000	C
PALM2	114299	genome.wustl.edu	37	9	112705573	112705573	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:112705573G>A	ENST00000374531.2	+	7	1082	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000448454.2_Silent_p.E370E|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000314527.4_Silent_p.E368E|PALM2_ENST00000483909.1_Silent_p.E334E|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	336					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						ACGCGGCTGAGCTTGTGTCCG	0.552																																						dbGAP											0													137.0	133.0	135.0					9																	112705573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.1008G>A	9.37:g.112705573G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	pfam_Paralemmin	p.E370	ENST00000374531.2	37	c.1110	CCDS35099.1	9																																																																																			PALM2	-	pfam_Paralemmin	ENSG00000243444		0.552	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2	HGNC	protein_coding	OTTHUMT00000053604.1	279	0.00	0	G	NM_001037293		112705573	112705573	+1	no_errors	ENST00000448454	ensembl	human	known	69_37n	silent	212	14.80	37	SNP	1.000	A
PAM	5066	genome.wustl.edu	37	5	102203071	102203071	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:102203071C>T	ENST00000438793.3	+	2	654	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.R62C|PAM_ENST00000455264.2_Missense_Mutation_p.R62C|PAM_ENST00000346918.2_Missense_Mutation_p.R62C|PAM_ENST00000348126.2_Missense_Mutation_p.R62C|PAM_ENST00000513648.1_3'UTR	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	62	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATTGGATATTCGCATGCCTGG	0.363																																						dbGAP											0													159.0	141.0	147.0					5																	102203071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.184C>T	5.37:g.102203071C>T	ENSP00000396493:p.Arg62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.R62C	ENST00000438793.3	37	c.184	CCDS54885.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972171	0.74246	.	.	ENSG00000145730	ENST00000511839;ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000455264	T;T;T;T;T;T	0.68331	-0.32;1.44;1.44;1.44;1.44;1.44	5.61	5.61	0.85477	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.166997	0.56097	D	0.000039	D	0.84051	0.5387	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.974;0.966;0.972;0.955;0.993	D	0.85834	0.1393	10	0.87932	D	0	.	19.6458	0.95776	0.0:1.0:0.0:0.0	.	62;62;62;62;62	P19021;P19021-4;P19021-3;P19021-5;P19021-2	AMD_HUMAN;.;.;.;.	C	62	ENSP00000426448:R62C;ENSP00000396493:R62C;ENSP00000282992:R62C;ENSP00000314638:R62C;ENSP00000306100:R62C;ENSP00000403461:R62C	ENSP00000306100:R62C	R	+	1	0	PAM	102230970	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	5.646000	0.67916	2.642000	0.89623	0.491000	0.48974	CGC	PAM	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom	ENSG00000145730		0.363	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	367	0.00	0	C	NM_000919		102203071	102203071	+1	no_errors	ENST00000304400	ensembl	human	known	69_37n	missense	116	30.12	50	SNP	1.000	T
PAM	5066	genome.wustl.edu	37	5	102343295	102343295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:102343295G>T	ENST00000438793.3	+	19	2619	c.2149G>T	c.(2149-2151)Gaa>Taa	p.E717*	PAM_ENST00000379787.4_Nonsense_Mutation_p.E97*|PAM_ENST00000274392.9_Nonsense_Mutation_p.E620*|PAM_ENST00000304400.7_Nonsense_Mutation_p.E717*|PAM_ENST00000455264.2_Nonsense_Mutation_p.E717*|PAM_ENST00000346918.2_Nonsense_Mutation_p.E717*|PAM_ENST00000348126.2_Nonsense_Mutation_p.E610*	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	717	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGACACCAAAGAATTTGTGAG	0.388																																						dbGAP											0													110.0	111.0	111.0					5																	102343295		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2149G>T	5.37:g.102343295G>T	ENSP00000396493:p.Glu717*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Nonsense_Mutation	SNP	pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase	p.E717*	ENST00000438793.3	37	c.2149	CCDS54885.1	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	37|37|37	6.377620|6.377620|6.377620	0.97520|0.97520|0.97520	.|.|.	.|.|.	ENSG00000145730|ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000504691|ENST00000379799	.|.|.	.|.|.	.|.|.	5.17|5.17|5.17	5.17|5.17|5.17	0.71159|0.71159|0.71159	.|.|.	0.145101|.|.	0.64402|.|.	D|.|.	0.000008|.|.	.|T|T	.|0.52025|0.52025	.|0.1709|0.1709	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.61133|0.61133	.|-0.7124|-0.7124	.|4|3	0.23891|0.72032|.	T|D|.	0.37|0.01|.	.|.|.	8.8432|8.8432|8.8432	0.35155|0.35155|0.35155	0.0783:0.1516:0.7701:0.0|0.0783:0.1516:0.7701:0.0|0.0783:0.1516:0.7701:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	717;717;610;97;717;620;717|11|489	.|.|.	ENSP00000274392:E620X|ENSP00000424203:K11N|.	E|K|R	+|+|+	1|3|2	0|2|0	PAM|PAM|PAM	102371194|102371194|102371194	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	4.921000|4.921000|4.921000	0.63397|0.63397|0.63397	2.679000|2.679000|2.679000	0.91253|0.91253|0.91253	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA	PAM	-	NULL	ENSG00000145730		0.388	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PAM	HGNC	protein_coding	OTTHUMT00000250640.2	240	0.41	1	G	NM_000919		102343295	102343295	+1	no_errors	ENST00000304400	ensembl	human	known	69_37n	nonsense	183	14.08	30	SNP	1.000	T
PAPOLA	10914	genome.wustl.edu	37	14	96993812	96993812	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:96993812G>A	ENST00000216277.8	+	5	597	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	PAPOLA_ENST00000557471.1_Missense_Mutation_p.R126Q|PAPOLA_ENST00000392990.2_Missense_Mutation_p.R126Q|PAPOLA_ENST00000557320.1_Missense_Mutation_p.R126Q|PAPOLA_ENST00000554130.1_3'UTR	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	126					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CATGTTGATCGAAGTGACTTT	0.333																																					NSCLC(19;254 734 11908 35501 39234)	dbGAP											0													211.0	232.0	225.0					14																	96993812		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.377G>A	14.37:g.96993812G>A	ENSP00000216277:p.Arg126Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.R126Q	ENST00000216277.8	37	c.377	CCDS9946.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.839398|5.839398	0.97009|0.97009	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000553461|ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|Nucleotidyl transferase domain (1);Poly(A) polymerase, central domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87091|0.87091	0.6091|0.6091	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.89545|0.89545	0.3795|0.3795	5|9	.|0.62326	.|D	.|0.03	.|.	19.5215|19.5215	0.95187|0.95187	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142;142;126;126;142	.|F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.|.;.;PAPOA_HUMAN;.;.	K|Q	12|126;126;142;126;140;126	.|.	.|ENSP00000216277:R126Q	E|R	+|+	1|2	0|0	PAPOLA|PAPOLA	96063565|96063565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.781000|9.781000	0.99029|0.99029	2.706000|2.706000	0.92434|0.92434	0.555000|0.555000	0.69702|0.69702	GAA|CGA	PAPOLA	-	pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase	ENSG00000090060		0.333	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	352	0.28	1	G			96993812	96993812	+1	no_errors	ENST00000216277	ensembl	human	known	69_37n	missense	194	28.62	79	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176668447	176668447	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:176668447C>A	ENST00000367662.3	+	8	4122	c.2958C>A	c.(2956-2958)atC>atA	p.I986I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	986					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACACAGAGATCTTGCTGGAAA	0.562																																						dbGAP											0													211.0	210.0	210.0					1																	176668447		2123	4234	6357	-	-	-	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2958C>A	1.37:g.176668447C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.I986	ENST00000367662.3	37	c.2958	CCDS41438.1	1																																																																																			PAPPA2	-	superfamily_Fibronectin_type3	ENSG00000116183		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	386	0.00	0	C			176668447	176668447	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	silent	292	14.08	48	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176668655	176668655	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:176668655C>T	ENST00000367662.3	+	8	4330	c.3166C>T	c.(3166-3168)Ctc>Ttc	p.L1056F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1056					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTACCAGGTTCTCCGCGATCC	0.547																																						dbGAP											0													112.0	116.0	115.0					1																	176668655		2059	4205	6264	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3166C>T	1.37:g.176668655C>T	ENSP00000356634:p.Leu1056Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L1056F	ENST00000367662.3	37	c.3166	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864087	0.51482	.	.	ENSG00000116183	ENST00000367662	T	0.42900	0.96	5.38	4.45	0.53987	Fibronectin, type III (2);	0.400028	0.28742	N	0.014284	T	0.46308	0.1386	M	0.74881	2.28	0.80722	D	1	P	0.41102	0.738	B	0.39027	0.288	T	0.54807	-0.8238	10	0.59425	D	0.04	-14.6141	15.0459	0.71827	0.1432:0.8567:0.0:0.0	.	1056	Q9BXP8	PAPP2_HUMAN	F	1056	ENSP00000356634:L1056F	ENSP00000356634:L1056F	L	+	1	0	PAPPA2	174935278	0.039000	0.19947	0.996000	0.52242	0.677000	0.39632	0.343000	0.19944	1.457000	0.47850	0.655000	0.94253	CTC	PAPPA2	-	superfamily_Fibronectin_type3	ENSG00000116183		0.547	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	205	0.00	0	C			176668655	176668655	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	129	21.82	36	SNP	0.902	T
PAPPA2	60676	genome.wustl.edu	37	1	176708820	176708820	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:176708820G>A	ENST00000367662.3	+	13	5021	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1286					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACAACTGATGGCCTAGTTCCC	0.438																																						dbGAP											0													70.0	69.0	69.0					1																	176708820		1929	4155	6084	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3857G>A	1.37:g.176708820G>A	ENSP00000356634:p.Gly1286Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.G1286D	ENST00000367662.3	37	c.3857	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814930	0.70912	.	.	ENSG00000116183	ENST00000367662	T	0.03553	3.89	5.67	5.67	0.87782	.	0.048022	0.85682	D	0.000000	T	0.22551	0.0544	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00289	-1.1844	10	0.87932	D	0	-25.3594	17.5513	0.87876	0.0:0.0:1.0:0.0	.	1286	Q9BXP8	PAPP2_HUMAN	D	1286	ENSP00000356634:G1286D	ENSP00000356634:G1286D	G	+	2	0	PAPPA2	174975443	1.000000	0.71417	0.993000	0.49108	0.069000	0.16628	8.189000	0.89712	2.667000	0.90743	0.561000	0.74099	GGC	PAPPA2	-	NULL	ENSG00000116183		0.438	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	115	0.00	0	G			176708820	176708820	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	99	15.38	18	SNP	1.000	A
PAPSS2	9060	genome.wustl.edu	37	10	89473804	89473804	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:89473804C>T	ENST00000361175.4	+	4	754	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R133C|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R129C	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	129					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TTTTCAGGATCGTGAGAATGC	0.363																																						dbGAP											0													67.0	71.0	70.0					10																	89473804		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.385C>T	10.37:g.89473804C>T	ENSP00000354436:p.Arg129Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.R129C	ENST00000361175.4	37	c.385	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035084	0.93575	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	D;D;D	0.86562	-2.14;-2.14;-2.14	5.9	5.9	0.94986	Adenylylsulphate kinase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	H	0.99935	4.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98693	1.0697	10	0.87932	D	0	-15.3052	20.2822	0.98520	0.0:1.0:0.0:0.0	.	129;129	O95340;O95340-2	PAPS2_HUMAN;.	C	129;129;133;128	ENSP00000354436:R129C;ENSP00000406157:R129C;ENSP00000397123:R133C	ENSP00000354436:R129C	R	+	1	0	PAPSS2	89463784	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.487000	0.81328	2.806000	0.96561	0.655000	0.94253	CGT	PAPSS2	-	pfam_APS_kinase,tigrfam_APS_kinase	ENSG00000198682		0.363	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	94	0.00	0	C			89473804	89473804	+1	no_errors	ENST00000456849	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	1.000	T
PAPSS2	9060	genome.wustl.edu	37	10	89503294	89503294	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:89503294C>T	ENST00000361175.4	+	10	1741	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	PAPSS2_ENST00000427144.2_Missense_Mutation_p.R462W|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R463W	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	458					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TCTAGACTGGCGGATGAAGCA	0.602																																						dbGAP											0													100.0	88.0	92.0					10																	89503294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1372C>T	10.37:g.89503294C>T	ENSP00000354436:p.Arg458Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.R463W	ENST00000361175.4	37	c.1387	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681560	0.68042	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.46451	0.87;0.87;0.87	5.33	0.967	0.19674	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	H	0.99090	4.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86154	0.1589	10	0.87932	D	0	-20.7941	15.4007	0.74838	0.5747:0.4253:0.0:0.0	.	458;463	O95340;O95340-2	PAPS2_HUMAN;.	W	458;463;462;462	ENSP00000354436:R458W;ENSP00000406157:R463W;ENSP00000397123:R462W	ENSP00000354436:R458W	R	+	1	2	PAPSS2	89493274	0.999000	0.42202	0.997000	0.53966	0.777000	0.43975	0.672000	0.25187	-0.008000	0.14320	-0.268000	0.10319	CGG	PAPSS2	-	pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase	ENSG00000198682		0.602	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	181	0.00	0	C			89503294	89503294	+1	no_errors	ENST00000456849	ensembl	human	known	69_37n	missense	114	22.97	34	SNP	1.000	T
PARD3B	117583	genome.wustl.edu	37	2	206165385	206165385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:206165385C>T	ENST00000406610.2	+	17	2524	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.R711*|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.R773*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.R773*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	773					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCACATGGTTCGAGGCCGAGG	0.517																																						dbGAP											0													96.0	99.0	98.0					2																	206165385		1921	4131	6052	-	-	-	SO:0001587	stop_gained	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2317C>T	2.37:g.206165385C>T	ENSP00000385848:p.Arg773*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R773*	ENST00000406610.2	37	c.2317		2	.	.	.	.	.	.	.	.	.	.	C	36	5.637185	0.96693	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	.	.	.	5.75	4.88	0.63580	.	0.147201	0.44483	D	0.000452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7406	0.69451	0.0:0.9307:0.0:0.0693	.	.	.	.	X	773;711;773	.	ENSP00000340280:R773X	R	+	1	2	PARD3B	205873630	0.994000	0.37717	0.125000	0.21846	0.440000	0.31957	3.233000	0.51311	1.438000	0.47492	-0.136000	0.14681	CGA	PARD3B	-	NULL	ENSG00000116117		0.517	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	351	0.00	0	C	NM_057177		206165385	206165385	+1	no_errors	ENST00000406610	ensembl	human	known	69_37n	nonsense	149	33.33	75	SNP	0.950	T
PARP11	57097	genome.wustl.edu	37	12	3921319	3921319	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:3921319G>T	ENST00000228820.4	-	8	1131	c.987C>A	c.(985-987)atC>atA	p.I329I	PARP11_ENST00000447133.3_Silent_p.I248I|PARP11_ENST00000476985.1_Intron|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000427057.2_Silent_p.I248I	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	322	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			ACTCAGGATAGATTTGGTTGG	0.408																																						dbGAP											0													110.0	105.0	106.0					12																	3921319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.987C>A	12.37:g.3921319G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRQ0|Q68DS1|Q8N5Y9	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.I329	ENST00000228820.4	37	c.987	CCDS8523.2	12																																																																																			PARP11	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000111224		0.408	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1	502	0.00	0	G			3921319	3921319	-1	no_errors	ENST00000228820	ensembl	human	known	69_37n	silent	343	11.79	46	SNP	1.000	T
PARP14	54625	genome.wustl.edu	37	3	122419358	122419358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122419358G>T	ENST00000474629.2	+	6	2223	c.1957G>T	c.(1957-1959)Gaa>Taa	p.E653*		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTGTGTAAAAGAAGTAAATGA	0.328																																						dbGAP											0													25.0	24.0	24.0					3																	122419358		1823	4082	5905	-	-	-	SO:0001587	stop_gained	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1957G>T	3.37:g.122419358G>T	ENSP00000418194:p.Glu653*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E653*	ENST00000474629.2	37	c.1957	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492699	0.84962	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	.	.	.	6.06	-4.47	0.03525	.	1.068720	0.07214	N	0.859704	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	5.2991	0.15768	0.2205:0.387:0.3139:0.0787	.	.	.	.	X	653;572	.	ENSP00000381228:E572X	E	+	1	0	PARP14	123902048	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.330000	0.07925	-0.741000	0.04797	-2.151000	0.00333	GAA	PARP14	-	NULL	ENSG00000173193		0.328	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	76	0.00	0	G	NM_017554		122419358	122419358	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	nonsense	57	20.83	15	SNP	0.000	T
PARP15	165631	genome.wustl.edu	37	3	122329565	122329565	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122329565G>T	ENST00000464300.2	+	3	597	c.531G>T	c.(529-531)gaG>gaT	p.E177D	PARP15_ENST00000483793.1_Missense_Mutation_p.E177D|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	177	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ATGGAGCAGAGACTTCTTGGC	0.483																																						dbGAP											0													87.0	77.0	80.0					3																	122329565		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.531G>T	3.37:g.122329565G>T	ENSP00000417214:p.Glu177Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E177D	ENST00000464300.2	37	c.531	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	G	5.455	0.269063	0.10349	.	.	ENSG00000173200	ENST00000464300;ENST00000483793	T;T	0.23348	1.91;1.94	4.3	-4.88	0.03113	Appr-1-p processing (3);	.	.	.	.	T	0.12689	0.0308	L	0.28458	0.855	0.09310	N	1	B;B	0.23442	0.085;0.033	B;B	0.24006	0.018;0.05	T	0.37549	-0.9701	9	0.12766	T	0.61	.	4.5541	0.12128	0.5839:0.109:0.1969:0.1103	.	177;155	C9J7L3;Q460N3	.;PAR15_HUMAN	D	177	ENSP00000417214:E177D;ENSP00000417785:E177D	ENSP00000417214:E177D	E	+	3	2	PARP15	123812255	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.325000	0.07976	-1.069000	0.03153	0.650000	0.86243	GAG	PARP15	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000173200		0.483	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	132	0.75	1	G	NM_152615		122329565	122329565	+1	no_errors	ENST00000464300	ensembl	human	known	69_37n	missense	113	13.74	18	SNP	0.000	T
PARP15	165631	genome.wustl.edu	37	3	122334567	122334567	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122334567G>T	ENST00000464300.2	+	5	837				PARP15_ENST00000310366.4_Missense_Mutation_p.R4I|PARP15_ENST00000493645.1_Missense_Mutation_p.R4I|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_Intron	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ATGCTCCAAAGAATTGGATTA	0.328																																						dbGAP											0													59.0	60.0	60.0					3																	122334567		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.772-59G>T	3.37:g.122334567G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R4I	ENST00000464300.2	37	c.11	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324072	0.60634	.	.	ENSG00000173200	ENST00000310366;ENST00000493645	T;T	0.15017	2.69;2.46	4.16	2.16	0.27623	.	.	.	.	.	T	0.28732	0.0712	.	.	.	0.09310	N	1	P;D	0.64830	0.94;0.994	B;P	0.57776	0.367;0.827	T	0.05616	-1.0874	8	0.87932	D	0	.	7.2192	0.25977	0.2466:0.0:0.7534:0.0	.	4;4	B7ZL48;Q460N3-2	.;.	I	4	ENSP00000308436:R4I;ENSP00000419488:R4I	ENSP00000308436:R4I	R	+	2	0	PARP15	123817257	0.001000	0.12720	0.068000	0.19968	0.436000	0.31835	0.145000	0.16157	0.963000	0.38082	0.655000	0.94253	AGA	PARP15	-	NULL	ENSG00000173200		0.328	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	115	0.00	0	G	NM_152615		122334567	122334567	+1	no_errors	ENST00000310366	ensembl	human	known	69_37n	missense	73	22.92	22	SNP	0.015	T
PARP15	165631	genome.wustl.edu	37	3	122351038	122351038	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122351038G>A	ENST00000464300.2	+	10	1610	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	PARP15_ENST00000310366.4_Missense_Mutation_p.R281Q|PARP15_ENST00000493645.1_Missense_Mutation_p.R212Q|PARP15_ENST00000483793.1_Missense_Mutation_p.R320Q|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	515	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R515Q(1)|p.R281Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTTCACCCGAACTTGTTCT	0.358																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											75.0	72.0	73.0					3																	122351038		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1544G>A	3.37:g.122351038G>A	ENSP00000417214:p.Arg515Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R515Q	ENST00000464300.2	37	c.1544	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	g	0.243	-1.012050	0.02095	.	.	ENSG00000173200	ENST00000464300;ENST00000483793;ENST00000542823;ENST00000310366;ENST00000493645	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	3.77	1.28	0.21552	Poly(ADP-ribose) polymerase, catalytic domain (2);	.	.	.	.	T	0.03959	0.0111	N	0.02403	-0.565	0.09310	N	1	B;B;B;B;B	0.21381	0.006;0.001;0.0;0.055;0.0	B;B;B;B;B	0.09377	0.001;0.0;0.0;0.004;0.0	T	0.42749	-0.9433	9	0.06365	T	0.9	.	6.7554	0.23510	0.6966:0.0:0.3034:0.0	.	212;281;262;320;493	B7ZL48;Q460N3-2;F5H8I1;C9J7L3;Q460N3	.;.;.;.;PAR15_HUMAN	Q	515;320;262;281;212	ENSP00000417214:R515Q;ENSP00000417785:R320Q;ENSP00000308436:R281Q;ENSP00000419488:R212Q	ENSP00000308436:R281Q	R	+	2	0	PARP15	123833728	0.000000	0.05858	0.145000	0.22337	0.023000	0.10783	0.345000	0.19979	0.520000	0.28426	-0.285000	0.09966	CGA	PARP15	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000173200		0.358	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	251	0.00	0	G	NM_152615		122351038	122351038	+1	no_errors	ENST00000464300	ensembl	human	known	69_37n	missense	163	15.38	30	SNP	0.060	A
PARP14	54625	genome.wustl.edu	37	3	122437651	122437651	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122437651G>T	ENST00000474629.2	+	14	4919	c.4653G>T	c.(4651-4653)atG>atT	p.M1551I	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1551	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTAACAAAATGACCAATCTGA	0.363																																						dbGAP											0													133.0	132.0	132.0					3																	122437651		1865	4105	5970	-	-	-	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4653G>T	3.37:g.122437651G>T	ENSP00000418194:p.Met1551Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.M1551I	ENST00000474629.2	37	c.4653	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.405308	0.00195	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.40225	1.04	5.05	-10.1	0.00402	WWE domain (2);	0.521942	0.20318	N	0.094686	T	0.13670	0.0331	N	0.03115	-0.41	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.16867	-1.0388	10	0.06757	T	0.87	.	16.7868	0.85576	0.2142:0.0:0.6917:0.0941	.	1551;1551	Q460N5-4;Q460N5	.;PAR14_HUMAN	I	1551;1470;154;547	ENSP00000418194:M1551I	ENSP00000310633:M154I	M	+	3	0	PARP14	123920341	0.000000	0.05858	0.071000	0.20095	0.011000	0.07611	-1.625000	0.02036	-2.420000	0.00564	-1.969000	0.00466	ATG	PARP14	-	pfam_WWE-dom,pfscan_WWE-dom	ENSG00000173193		0.363	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	248	0.40	1	G	NM_017554		122437651	122437651	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	missense	194	17.45	41	SNP	0.070	T
PARP2	10038	genome.wustl.edu	37	14	20819270	20819270	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20819270C>A	ENST00000250416.5	+	6	552	c.525C>A	c.(523-525)atC>atA	p.I175I	PARP2_ENST00000429687.3_Silent_p.I162I|PARP2_ENST00000527915.1_Silent_p.I175I	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	175					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I175I(1)|p.I126I(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CCAAGGAAATCTTTCAGAAGA	0.383								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											2	Substitution - coding silent(2)	large_intestine(2)											75.0	68.0	70.0					14																	20819270		1864	4094	5958	-	-	-	SO:0001819	synonymous_variant	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.525C>A	14.37:g.20819270C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.I175	ENST00000250416.5	37	c.525	CCDS41910.1	14																																																																																			PARP2	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain	ENSG00000129484		0.383	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	245	0.00	0	C			20819270	20819270	+1	no_errors	ENST00000250416	ensembl	human	known	69_37n	silent	200	15.97	38	SNP	1.000	A
PARP2	10038	genome.wustl.edu	37	14	20825602	20825602	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:20825602C>T	ENST00000250416.5	+	15	1542	c.1515C>T	c.(1513-1515)gcC>gcT	p.A505A	PARP2_ENST00000429687.3_Silent_p.A492A|PARP2_ENST00000527915.1_Silent_p.A505A	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	505	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATCCTAAGGCCGAAGGATTGC	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0													79.0	76.0	77.0					14																	20825602		1896	4102	5998	-	-	-	SO:0001819	synonymous_variant	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1515C>T	14.37:g.20825602C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A505	ENST00000250416.5	37	c.1515	CCDS41910.1	14																																																																																			PARP2	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000129484		0.473	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	204	0.00	0	C			20825602	20825602	+1	no_errors	ENST00000250416	ensembl	human	known	69_37n	silent	149	14.86	26	SNP	1.000	T
PARP4	143	genome.wustl.edu	37	13	25077796	25077796	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:25077796G>A	ENST00000381989.3	-	2	224	c.119C>T	c.(118-120)tCg>tTg	p.S40L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	40	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGATTTAACGAAAAGGAAAA	0.383																																						dbGAP											0													112.0	106.0	108.0					13																	25077796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.119C>T	13.37:g.25077796G>A	ENSP00000371419:p.Ser40Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.S40L	ENST00000381989.3	37	c.119	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	G	5.457	0.269483	0.10349	.	.	ENSG00000102699	ENST00000381989	T	0.80909	-1.43	4.78	-2.67	0.06059	BRCT (4);	0.728952	0.11354	N	0.572700	T	0.38321	0.1036	N	0.00138	-2.015	0.09310	N	0.999996	B	0.09022	0.002	B	0.08055	0.003	T	0.48758	-0.9007	10	0.16896	T	0.51	0.4431	6.6015	0.22703	0.2976:0.1682:0.5342:0.0	.	40	Q9UKK3	PARP4_HUMAN	L	40	ENSP00000371419:S40L	ENSP00000371419:S40L	S	-	2	0	PARP4	23975796	0.003000	0.15002	0.315000	0.25238	0.796000	0.44982	0.325000	0.19628	-0.545000	0.06224	-0.367000	0.07326	TCG	PARP4	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000102699		0.383	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	292	0.00	0	G	NM_006437		25077796	25077796	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	191	16.59	38	SNP	0.486	A
PARP4	143	genome.wustl.edu	37	13	25077812	25077812	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:25077812C>T	ENST00000381989.3	-	2	208	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	35	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAAAACTTTCCGCCATTTTCC	0.383																																						dbGAP											0													113.0	108.0	109.0					13																	25077812		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.103G>A	13.37:g.25077812C>T	ENSP00000371419:p.Gly35Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.G35R	ENST00000381989.3	37	c.103	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807766	0.70797	.	.	ENSG00000102699	ENST00000381989	T	0.28666	1.6	4.78	4.78	0.61160	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	M	0.76328	2.33	0.43734	D	0.996222	D	0.89917	1.0	D	0.80764	0.994	T	0.57871	-0.7736	10	0.87932	D	0	-17.0546	13.4924	0.61405	0.0:1.0:0.0:0.0	.	35	Q9UKK3	PARP4_HUMAN	R	35	ENSP00000371419:G35R	ENSP00000371419:G35R	G	-	1	0	PARP4	23975812	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.235000	0.43044	2.629000	0.89072	0.561000	0.74099	GGA	PARP4	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000102699		0.383	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	308	0.00	0	C	NM_006437		25077812	25077812	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	213	12.70	31	SNP	1.000	T
PARP6	56965	genome.wustl.edu	37	15	72553997	72553997	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:72553997G>T	ENST00000569795.1	-	9	1134	c.447C>A	c.(445-447)ttC>ttA	p.F149L	PARP6_ENST00000260376.7_Missense_Mutation_p.F149L|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.F149L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	149							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GGGTCTTCAAGAAATCATTGC	0.478																																						dbGAP											0													348.0	331.0	336.0					15																	72553997		1941	4149	6090	-	-	-	SO:0001583	missense	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.447C>A	15.37:g.72553997G>T	ENSP00000456348:p.Phe149Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.F149L	ENST00000569795.1	37	c.447	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	g	9.589	1.125714	0.20959	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.66	1.72	0.24424	.	0.153530	0.64402	N	0.000011	T	0.22085	0.0532	N	0.24115	0.695	0.23851	N	0.996663	B;B;B	0.14438	0.002;0.01;0.0	B;B;B	0.11329	0.001;0.006;0.0	T	0.26744	-1.0094	9	0.07644	T	0.81	-23.5558	7.9016	0.29738	0.3303:0.0:0.6697:0.0	.	149;149;101	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	149;149;149;14;14;149	.	ENSP00000260376:F149L	F	-	3	2	PARP6	70341051	1.000000	0.71417	0.928000	0.36995	0.208000	0.24298	4.061000	0.57485	0.158000	0.19367	-0.294000	0.09567	TTC	PARP6	-	NULL	ENSG00000137817		0.478	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	620	0.00	0	G	NM_020214		72553997	72553997	-1	no_errors	ENST00000287196	ensembl	human	known	69_37n	missense	491	14.61	84	SNP	1.000	T
PARP6	56965	genome.wustl.edu	37	15	72557476	72557476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:72557476C>A	ENST00000569795.1	-	7	961	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	PARP6_ENST00000260376.7_Nonsense_Mutation_p.E92*|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Nonsense_Mutation_p.E92*			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	92							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACAATAGGTTCTGTCCGGAGG	0.483																																						dbGAP											0													58.0	58.0	58.0					15																	72557476		1907	4125	6032	-	-	-	SO:0001587	stop_gained	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.274G>T	15.37:g.72557476C>A	ENSP00000456348:p.Glu92*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E92*	ENST00000569795.1	37	c.274	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	C	40	8.312466	0.98754	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000336471	.	.	.	5.6	5.6	0.85130	.	0.107906	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-41.9017	18.6027	0.91255	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000260376:E92X	E	-	1	0	PARP6	70344530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.639000	0.89480	0.563000	0.77884	GAA	PARP6	-	NULL	ENSG00000137817		0.483	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	180	0.00	0	C	NM_020214		72557476	72557476	-1	no_errors	ENST00000287196	ensembl	human	known	69_37n	nonsense	160	13.51	25	SNP	1.000	A
PARP8	79668	genome.wustl.edu	37	5	50056183	50056183	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:50056183A>C	ENST00000281631.5	+	5	490	c.332A>C	c.(331-333)aAg>aCg	p.K111T	PARP8_ENST00000514067.2_Missense_Mutation_p.K111T|PARP8_ENST00000505697.2_Missense_Mutation_p.K111T|PARP8_ENST00000511363.2_Intron|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.K111T|PARP8_ENST00000505554.1_Missense_Mutation_p.K90T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	111						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AAATTACAAAAGGAAAATGGG	0.224																																						dbGAP											0													17.0	19.0	18.0					5																	50056183		2115	4206	6321	-	-	-	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.332A>C	5.37:g.50056183A>C	ENSP00000281631:p.Lys111Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K111T	ENST00000281631.5	37	c.332	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	A	13.85	2.359179	0.41801	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000503046;ENST00000505554	.	.	.	5.54	5.54	0.83059	.	0.061526	0.64402	D	0.000004	T	0.37945	0.1022	N	0.01352	-0.895	0.80722	D	1	D;B	0.61080	0.989;0.0	D;B	0.70487	0.969;0.001	T	0.53070	-0.8490	8	.	.	.	-20.3889	13.9237	0.63950	1.0:0.0:0.0:0.0	.	111;111	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	T	111;111;111;111;111;90	.	.	K	+	2	0	PARP8	50091940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	2.243000	0.73865	0.482000	0.46254	AAG	PARP8	-	NULL	ENSG00000151883		0.224	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	97	0.00	0	A	NM_024615		50056183	50056183	+1	no_errors	ENST00000281631	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	1.000	C
PARP9	83666	genome.wustl.edu	37	3	122271467	122271467	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:122271467G>T	ENST00000360356.2	-	5	1237	c.1010C>A	c.(1009-1011)tCt>tAt	p.S337Y	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.S302Y|PARP9_ENST00000462315.1_Missense_Mutation_p.S302Y|PARP9_ENST00000471785.1_Missense_Mutation_p.S302Y	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	337	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGGGTTTACAGAATTAACAAT	0.353																																						dbGAP											0													76.0	77.0	76.0					3																	122271467		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1010C>A	3.37:g.122271467G>T	ENSP00000353512:p.Ser337Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S337Y	ENST00000360356.2	37	c.1010	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402447	0.42613	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.3	3.42	0.39159	Appr-1-p processing (3);	0.129656	0.35936	N	0.002883	T	0.52419	0.1733	M	0.87827	2.91	0.46981	D	0.999276	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.996	T	0.58053	-0.7704	10	0.87932	D	0	.	9.6936	0.40143	0.0:0.0:0.793:0.207	.	302;337;302	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	Y	337;302;302;260;302	ENSP00000353512:S337Y;ENSP00000419506:S302Y;ENSP00000419001:S302Y;ENSP00000418894:S302Y	ENSP00000353512:S337Y	S	-	2	0	PARP9	123754157	1.000000	0.71417	0.968000	0.41197	0.446000	0.32137	2.957000	0.49137	1.165000	0.42670	-0.169000	0.13324	TCT	PARP9	-	pfam_A1pp,smart_A1pp,pfscan_A1pp	ENSG00000138496		0.353	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	424	0.00	0	G	NM_031458		122271467	122271467	-1	no_errors	ENST00000360356	ensembl	human	known	69_37n	missense	365	13.51	57	SNP	0.989	T
PMCH	5367	genome.wustl.edu	37	12	102591089	102591089	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:102591089T>G	ENST00000329406.4	-	2	324				PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000378128.3_3'UTR	NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone						cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						AGATGCAAATTTATAGGAGAA	0.333																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.250-140A>C	12.37:g.102591089T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16044|Q8WVG0	RNA	SNP	-	NULL	ENST00000329406.4	37	NULL	CCDS31885.1	12																																																																																			PARPBP	-	-	ENSG00000185480		0.333	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000409337.1	47	0.00	0	T	NM_002674		102591089	102591089	+1	no_errors	ENST00000535811	ensembl	human	known	69_37n	rna	18	33.33	9	SNP	0.016	G
PASK	23178	genome.wustl.edu	37	2	242076464	242076464	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:242076464G>A	ENST00000405260.1	-	7	1790	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	PASK_ENST00000539818.1_Silent_p.F148F|PASK_ENST00000403638.3_Silent_p.F364F|PASK_ENST00000234040.4_Silent_p.F364F|PASK_ENST00000544142.1_Silent_p.F178F|PASK_ENST00000358649.4_Silent_p.F364F	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	364	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTGTCAGCGCGAAGCTGTGGT	0.637																																						dbGAP											0													82.0	76.0	78.0					2																	242076464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1092C>T	2.37:g.242076464G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	NULL	p.S179L	ENST00000405260.1	37	c.536	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	G	3.852	-0.031678	0.07543	.	.	ENSG00000115687	ENST00000433589	.	.	.	5.19	-0.346	0.12620	.	.	.	.	.	T	0.54431	0.1858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44967	-0.9293	4	.	.	.	.	8.2286	0.31584	0.6623:0.0:0.3377:0.0	.	.	.	.	L	179	.	.	S	-	2	0	PASK	241725137	0.895000	0.30542	0.940000	0.37924	0.186000	0.23388	-0.119000	0.10676	-0.243000	0.09653	-0.423000	0.05987	TCG	PASK	-	NULL	ENSG00000115687		0.637	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	134	0.00	0	G	NM_015148		242076464	242076464	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000433589	ensembl	human	novel	69_37n	missense	74	12.94	11	SNP	0.995	A
PATL1	219988	genome.wustl.edu	37	11	59418265	59418265	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:59418265G>A	ENST00000300146.9	-	13	1630	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	516	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCTTGTCTCGAACTTGTTTT	0.303																																						dbGAP											0													86.0	75.0	78.0					11																	59418265		1785	4043	5828	-	-	-	SO:0001587	stop_gained	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1546C>T	11.37:g.59418265G>A	ENSP00000300146:p.Arg516*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Nonsense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.R516*	ENST00000300146.9	37	c.1546	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.641743	0.97726	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	.	.	.	5.93	5.93	0.95920	.	0.117111	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-17.7477	17.2502	0.87040	0.0:0.0:1.0:0.0	.	.	.	.	X	516;486	.	ENSP00000300146:R516X	R	-	1	2	PATL1	59174841	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.407000	0.59754	2.818000	0.97014	0.591000	0.81541	CGA	PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.303	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	280	0.35	1	G	NM_152716		59418265	59418265	-1	no_errors	ENST00000300146	ensembl	human	known	69_37n	nonsense	227	25.25	77	SNP	1.000	A
PATL2	197135	genome.wustl.edu	37	15	44967813	44967813	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:44967813C>A	ENST00000560775.1	-	2	152	c.93G>T	c.(91-93)gaG>gaT	p.E31D	PATL2_ENST00000434130.1_Missense_Mutation_p.E31D|PATL2_ENST00000558573.1_5'UTR|PATL2_ENST00000560780.1_Intron			C9JE40	PATL2_HUMAN	protein associated with topoisomerase II homolog 2 (yeast)	31					negative regulation of cytoplasmic mRNA processing body assembly (GO:0010607)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	RNA binding (GO:0003723)			kidney(2)|stomach(1)	3						ccccttcattctcttcttcTT	0.562																																						dbGAP											0													73.0	69.0	70.0					15																	44967813		687	1589	2276	-	-	-	SO:0001583	missense	0			BC036924	CCDS45253.1	15q21.1	2010-06-04			ENSG00000229474	ENSG00000229474			33630	protein-coding gene	gene with protein product		614661				17936923	Standard	NM_001145112		Approved		uc010uej.2	C9JE40		ENST00000560775.1:c.93G>T	15.37:g.44967813C>A	ENSP00000453915:p.Glu31Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.E31D	ENST00000560775.1	37	c.93	CCDS45253.1	15	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218397	0.09810	.	.	ENSG00000229474	ENST00000434130	T	0.50813	0.73	2.07	-3.42	0.04825	.	.	.	.	.	T	0.22742	0.0549	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21655	-1.0239	9	0.14656	T	0.56	.	2.5273	0.04694	0.2188:0.3572:0.0:0.4239	.	31	C9JE40	PATL2_HUMAN	D	31	ENSP00000416673:E31D	ENSP00000416673:E31D	E	-	3	2	PATL2	42755105	0.000000	0.05858	0.002000	0.10522	0.152000	0.21847	-0.783000	0.04638	-0.839000	0.04212	-0.448000	0.05591	GAG	PATL2	-	NULL	ENSG00000229474		0.562	PATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL2	HGNC	protein_coding	OTTHUMT00000415947.1	191	0.00	0	C	NM_001145112		44967813	44967813	-1	no_errors	ENST00000434130	ensembl	human	known	69_37n	missense	159	14.97	28	SNP	0.000	A
PAX6	5080	genome.wustl.edu	37	11	31815653	31815653	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:31815653C>A	ENST00000379132.3	-	8	972	c.692G>T	c.(691-693)aGa>aTa	p.R231I	PAX6_ENST00000419022.1_Missense_Mutation_p.R245I|PAX6_ENST00000379115.4_Missense_Mutation_p.R245I|PAX6_ENST00000379111.2_Missense_Mutation_p.R231I|PAX6_ENST00000379107.2_Missense_Mutation_p.R245I|PAX6_ENST00000241001.8_Missense_Mutation_p.R231I|PAX6_ENST00000379123.5_Missense_Mutation_p.R231I|PAX6_ENST00000379129.2_Missense_Mutation_p.R245I			P26367	PAX6_HUMAN	paired box 6	231					astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATAATGGGTTCTCTCAAACTC	0.433									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													dbGAP											0													208.0	203.0	205.0					11																	31815653		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.692G>T	11.37:g.31815653C>A	ENSP00000368427:p.Arg231Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6N006|Q99413	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.R245I	ENST00000379132.3	37	c.734	CCDS31451.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.366024	0.95900	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373;ENST00000531910;ENST00000471303	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.68	5.68	0.88126	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	L	0.58302	1.8	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.98325	1.0530	10	0.87932	D	0	.	19.7789	0.96410	0.0:1.0:0.0:0.0	.	245;231	F1T0F8;P26367	.;PAX6_HUMAN	I	245;231;245;60;245;30;231;245;231;231;95;95;231;186;30;95;95	ENSP00000404100:R245I;ENSP00000368427:R231I;ENSP00000368424:R245I;ENSP00000451885:R60I;ENSP00000368401:R245I;ENSP00000431961:R30I;ENSP00000241001:R231I;ENSP00000368410:R245I;ENSP00000368406:R231I;ENSP00000368418:R231I;ENSP00000451901:R95I;ENSP00000450775:R95I;ENSP00000368403:R231I;ENSP00000451372:R186I;ENSP00000452202:R30I;ENSP00000452558:R95I;ENSP00000435884:R95I	ENSP00000241001:R231I	R	-	2	0	PAX6	31772229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.453000	0.80700	2.679000	0.91253	0.655000	0.94253	AGA	PAX6	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000007372		0.433	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4	165	0.00	0	C	NM_001604		31815653	31815653	-1	no_errors	ENST00000379107	ensembl	human	known	69_37n	missense	135	12.90	20	SNP	1.000	A
PBK	55872	genome.wustl.edu	37	8	27667908	27667908	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:27667908C>A	ENST00000301905.4	-	8	1346	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	ESCO2_ENST00000397418.2_Intron|PBK_ENST00000522944.1_Nonsense_Mutation_p.E306*	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GAGAAGAGTTCAATTACTTTC	0.403																																						dbGAP											0													168.0	141.0	150.0					8																	27667908		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.883G>T	8.37:g.27667908C>A	ENSP00000301905:p.Glu295*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E295*	ENST00000301905.4	37	c.883	CCDS6063.1	8	.	.	.	.	.	.	.	.	.	.	C	38	7.142622	0.98092	.	.	ENSG00000168078	ENST00000301905;ENST00000522944	.	.	.	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-29.218	18.228	0.89924	0.0:1.0:0.0:0.0	.	.	.	.	X	295;306	.	ENSP00000301905:E295X	E	-	1	0	PBK	27723827	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.550000	0.82173	2.906000	0.99361	0.655000	0.94253	GAA	PBK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000168078		0.403	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBK	HGNC	protein_coding	OTTHUMT00000219952.2	181	0.00	0	C	NM_018492		27667908	27667908	-1	no_errors	ENST00000301905	ensembl	human	known	69_37n	nonsense	97	23.02	29	SNP	1.000	A
PBX2P1	5088	genome.wustl.edu	37	3	142895637	142895637	+	RNA	SNP	G	G	A	rs536037803		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142895637G>A	ENST00000560287.1	+	0	511									pre-B-cell leukemia homeobox 2 pseudogene 1																		CAACTCCATCGAACACTCGGA	0.592													-|||	1	0.000199681	0.0008	0.0	5008	,	,		18499	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895637G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-	ENSG00000244171		0.592	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	42	0.00	0	G	NG_002434		142895637	142895637	+1	no_errors	ENST00000560287	ensembl	human	known	69_37n	rna	19	36.67	11	SNP	1.000	A
PBX4	80714	genome.wustl.edu	37	19	19680936	19680936	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:19680936G>A	ENST00000251203.9	-	4	900	c.614C>T	c.(613-615)tCg>tTg	p.S205L		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	205					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GAGCAGCCGCGAACGCAGGGT	0.587																																						dbGAP											0													75.0	64.0	68.0					19																	19680936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.614C>T	19.37:g.19680936G>A	ENSP00000251203:p.Ser205Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8Y0|B3KUK9	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S205L	ENST00000251203.9	37	c.614	CCDS12406.1	19	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493434	0.26774	.	.	ENSG00000105717	ENST00000251203	T	0.36699	1.24	3.72	1.47	0.22746	PBX (1);Homeodomain-like (1);	0.165937	0.42294	N	0.000739	T	0.35653	0.0939	M	0.77486	2.375	0.58432	D	0.99999	B	0.18310	0.027	B	0.16722	0.016	T	0.20773	-1.0265	10	0.66056	D	0.02	-16.4387	6.7821	0.23652	0.1056:0.1791:0.7153:0.0	.	205	Q9BYU1	PBX4_HUMAN	L	205	ENSP00000251203:S205L	ENSP00000251203:S205L	S	-	2	0	PBX4	19541936	1.000000	0.71417	0.054000	0.19295	0.047000	0.14425	5.500000	0.66943	0.246000	0.21394	0.505000	0.49811	TCG	PBX4	-	pfam_PBX,superfamily_Homeodomain-like	ENSG00000105717		0.587	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX4	HGNC	protein_coding	OTTHUMT00000417784.6	26	0.00	0	G			19680936	19680936	-1	no_errors	ENST00000251203	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.976	A
PC	5091	genome.wustl.edu	37	11	66620845	66620845	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:66620845C>T	ENST00000393958.2	-	12	1471	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PC_ENST00000393960.1_Missense_Mutation_p.A460T|PC_ENST00000393955.2_Missense_Mutation_p.A460T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	460	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGCAGGAAGGCGATGTTGGTC	0.577																																						dbGAP											0													159.0	134.0	142.0					11																	66620845		2200	4295	6495	-	-	-	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1378G>A	11.37:g.66620845C>T	ENSP00000377530:p.Ala460Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.A460T	ENST00000393958.2	37	c.1378	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	c	17.42	3.386083	0.61956	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.87412	-2.25;-2.25;-2.25	4.03	3.12	0.35913	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.057374	0.64402	D	0.000001	D	0.82370	0.5022	L	0.47016	1.485	0.80722	D	1	B	0.29270	0.24	B	0.29862	0.108	T	0.79743	-0.1675	10	0.52906	T	0.07	-17.5724	11.4358	0.50068	0.0:0.1865:0.8134:0.0	.	460	P11498	PYC_HUMAN	T	460	ENSP00000377527:A460T;ENSP00000377530:A460T;ENSP00000377532:A460T	ENSP00000377527:A460T	A	-	1	0	PC	66377421	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.983000	0.56916	0.909000	0.36697	-0.395000	0.06472	GCC	PC	-	pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase	ENSG00000173599		0.577	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	80	0.00	0	C	NM_001040716		66620845	66620845	-1	no_errors	ENST00000393958	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	T
PCDH10	57575	genome.wustl.edu	37	4	134071544	134071544	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:134071544A>C	ENST00000264360.5	+	1	1075	c.249A>C	c.(247-249)caA>caC	p.Q83H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	83	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCGCGAACAAATCTGCAAAC	0.552																																						dbGAP											0													67.0	73.0	71.0					4																	134071544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.249A>C	4.37:g.134071544A>C	ENSP00000264360:p.Gln83His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q83H	ENST00000264360.5	37	c.249	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603545	0.28534	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.28255	1.62	4.66	-4.25	0.03766	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.43110	D	0.000619	T	0.37156	0.0993	M	0.62016	1.91	0.38215	D	0.94057	P;B	0.49696	0.927;0.407	P;B	0.55161	0.77;0.199	T	0.42207	-0.9465	10	0.72032	D	0.01	.	9.2886	0.37773	0.1866:0.0:0.6661:0.1473	.	83;83	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	83	ENSP00000264360:Q83H	ENSP00000264360:Q83H	Q	+	3	2	PCDH10	134290994	0.998000	0.40836	0.980000	0.43619	0.672000	0.39443	0.393000	0.20817	-0.664000	0.05324	0.454000	0.30748	CAA	PCDH10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.552	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	68	0.00	0	A	NM_032961		134071544	134071544	+1	no_errors	ENST00000264360	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.999	C
PCDH15	65217	genome.wustl.edu	37	10	55568568	55568568	+	Missense_Mutation	SNP	C	C	T	rs543675977		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:55568568C>T	ENST00000395445.1	-	36	5636	c.5242G>A	c.(5242-5244)Gaa>Aaa	p.E1748K	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.E613K|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E944K|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.E682K	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GACTGACTTTCGCTACTACTG	0.488										HNSCC(58;0.16)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18327	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													139.0	114.0	122.0					10																	55568568		1568	3582	5150	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5242G>A	10.37:g.55568568C>T	ENSP00000378832:p.Glu1748Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1748K	ENST00000395445.1	37	c.5242		10	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241748	0.58995	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	4.8	4.8	0.61643	.	.	.	.	.	T	0.41650	0.1168	N	0.14661	0.345	0.58432	D	0.999999	P;P	0.45240	0.854;0.854	B;B	0.26517	0.07;0.07	T	0.53816	-0.8385	9	0.87932	D	0	.	11.1339	0.48362	0.0:0.8135:0.1865:0.0	.	1746;1748	C6ZEF5;A2A3E2	.;.	K	1748;944;613;682	ENSP00000378832:E1748K;ENSP00000378833:E944K;ENSP00000378829:E613K;ENSP00000378827:E682K	ENSP00000378827:E682K	E	-	1	0	PCDH15	55238574	0.159000	0.22864	0.821000	0.32701	0.902000	0.53008	1.059000	0.30517	2.494000	0.84150	0.563000	0.77884	GAA	PCDH15	-	NULL	ENSG00000150275		0.488	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	428	0.00	0	C	NM_033056		55568568	55568568	-1	no_errors	ENST00000395445	ensembl	human	novel	69_37n	missense	212	25.87	74	SNP	0.697	T
PCDH15	65217	genome.wustl.edu	37	10	55582522	55582522	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:55582522G>T	ENST00000320301.6	-	33	5358	c.4964C>A	c.(4963-4965)tCt>tAt	p.S1655Y	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1652Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1632Y|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.S1657Y|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1615Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1586Y|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1655					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGAGAGAGATTTCAACTG	0.403										HNSCC(58;0.16)																												dbGAP											0													175.0	172.0	173.0					10																	55582522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4964C>A	10.37:g.55582522G>T	ENSP00000322604:p.Ser1655Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1655Y	ENST00000320301.6	37	c.4964	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380309	0.42207	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.62232	0.09;0.06;0.11;0.05;0.05;0.04	4.95	1.84	0.25277	.	.	.	.	.	T	0.58836	0.2150	L	0.29908	0.895	0.09310	N	1	D;D;D;D;P;D;P;P	0.59357	0.972;0.985;0.972;0.985;0.84;0.985;0.949;0.949	P;P;P;P;B;P;P;P	0.56216	0.786;0.707;0.707;0.707;0.379;0.707;0.794;0.707	T	0.47446	-0.9117	9	0.87932	D	0	.	5.9141	0.19045	0.1464:0.0:0.5778:0.2758	.	1632;1655;1657;1662;1586;1615;1652;1655	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	Y	1615;1657;1632;1655;1652;1662;1586	ENSP00000378820:S1615Y;ENSP00000354950:S1657Y;ENSP00000378821:S1632Y;ENSP00000322604:S1655Y;ENSP00000378818:S1652Y;ENSP00000412628:S1586Y	ENSP00000322604:S1655Y	S	-	2	0	PCDH15	55252528	0.001000	0.12720	0.332000	0.25469	0.072000	0.16883	0.467000	0.22035	1.058000	0.40530	-0.181000	0.13052	TCT	PCDH15	-	NULL	ENSG00000150275		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	291	0.00	0	G	NM_033056		55582522	55582522	-1	no_errors	ENST00000320301	ensembl	human	known	69_37n	missense	171	27.54	65	SNP	0.004	T
PCDH17	27253	genome.wustl.edu	37	13	58207092	58207092	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:58207092G>A	ENST00000377918.3	+	1	438	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	138	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGACCAGATCGAAATGGACAT	0.612																																					Melanoma(72;952 1291 1619 12849 33676)	dbGAP											0													101.0	83.0	89.0					13																	58207092		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.412G>A	13.37:g.58207092G>A	ENSP00000367151:p.Glu138Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E138K	ENST00000377918.3	37	c.412	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418676	0.25552	.	.	ENSG00000118946	ENST00000377918	T	0.52295	0.67	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	0.045941	0.85682	D	0.000000	T	0.38532	0.1044	N	0.17674	0.51	0.43527	D	0.995802	P;P	0.44006	0.824;0.707	B;B	0.42738	0.396;0.228	T	0.12167	-1.0558	9	.	.	.	.	18.7125	0.91662	0.0:0.0:1.0:0.0	.	138;138	O14917-2;O14917	.;PCD17_HUMAN	K	138	ENSP00000367151:E138K	.	E	+	1	0	PCDH17	57105093	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.370000	0.73114	2.669000	0.90835	0.650000	0.86243	GAA	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000118946		0.612	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	55	0.00	0	G	NM_001040429		58207092	58207092	+1	no_errors	ENST00000377918	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.999	A
PCDH18	54510	genome.wustl.edu	37	4	138451969	138451969	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:138451969C>A	ENST00000344876.4	-	1	1660	c.1274G>T	c.(1273-1275)aGa>aTa	p.R425I	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R425I|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R205I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTCTTTTCTCTATCCAGTGT	0.358																																						dbGAP											0													124.0	130.0	128.0					4																	138451969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1274G>T	4.37:g.138451969C>A	ENSP00000355082:p.Arg425Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R425I	ENST00000344876.4	37	c.1274	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459202	0.84317	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.59906	0.23;0.23;0.23	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.000000	0.47093	D	0.000260	D	0.87233	0.6126	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91465	0.5192	10	0.87932	D	0	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	205;425;425	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	I	425;425;205	ENSP00000355082:R425I;ENSP00000390688:R425I;ENSP00000425903:R205I	ENSP00000355082:R425I	R	-	2	0	PCDH18	138671419	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.770000	0.85390	2.868000	0.98415	0.557000	0.71058	AGA	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.358	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	242	0.00	0	C	NM_019035		138451969	138451969	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	missense	109	23.78	34	SNP	1.000	A
PCDH19	57526	genome.wustl.edu	37	X	99657819	99657819	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:99657819C>A	ENST00000373034.4	-	3	3994	c.2319G>T	c.(2317-2319)aaG>aaT	p.K773N	PCDH19_ENST00000255531.7_Missense_Mutation_p.K726N|PCDH19_ENST00000420881.2_Missense_Mutation_p.K726N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	773					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCTTGATTTCTTTTGATGCC	0.423													c|||	1	0.000264901	0.0	0.0	3775	,	,		13832	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													144.0	118.0	126.0					X																	99657819		1897	4115	6012	-	-	-	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2319G>T	X.37:g.99657819C>A	ENSP00000362125:p.Lys773Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K773N	ENST00000373034.4	37	c.2319	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	c	17.65	3.442694	0.63067	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54279	0.58;0.58;0.58	5.94	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.58991	0.2161	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.992;0.986	D;D;P	0.78314	0.991;0.921;0.835	T	0.53005	-0.8499	10	0.19590	T	0.45	.	12.3188	0.54973	0.0:0.8575:0.0:0.1425	.	773;726;726	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	N	726;773;726	ENSP00000400327:K726N;ENSP00000362125:K773N;ENSP00000255531:K726N	ENSP00000255531:K726N	K	-	3	2	PCDH19	99544475	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.427000	0.59888	1.267000	0.44247	-0.203000	0.12734	AAG	PCDH19	-	NULL	ENSG00000165194		0.423	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	401	0.00	0	C	NM_020766		99657819	99657819	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	341	14.32	57	SNP	1.000	A
PCDH19	57526	genome.wustl.edu	37	X	99662737	99662737	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:99662737C>T	ENST00000373034.4	-	1	2534	c.859G>A	c.(859-861)Gag>Aag	p.E287K	PCDH19_ENST00000255531.7_Missense_Mutation_p.E287K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E287K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGAAAGAGCTCGCGCGTGCGG	0.602																																						dbGAP											0													97.0	103.0	101.0					X																	99662737		2158	4238	6396	-	-	-	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.859G>A	X.37:g.99662737C>T	ENSP00000362125:p.Glu287Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E287K	ENST00000373034.4	37	c.859	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516909	0.64634	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51071	0.72;0.72;0.72	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.282780	0.41001	D	0.000971	T	0.47563	0.1452	L	0.31752	0.955	0.49687	D	0.999814	P;P;P	0.44946	0.588;0.814;0.846	B;B;P	0.46917	0.207;0.396;0.531	T	0.40232	-0.9574	10	0.45353	T	0.12	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	287;287;287	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	287	ENSP00000400327:E287K;ENSP00000362125:E287K;ENSP00000255531:E287K	ENSP00000255531:E287K	E	-	1	0	PCDH19	99549393	0.998000	0.40836	0.943000	0.38184	0.777000	0.43975	3.868000	0.56055	2.498000	0.84270	0.513000	0.50165	GAG	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.602	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	99	0.00	0	C	NM_020766		99662737	99662737	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	60	23.75	19	SNP	0.981	T
PCDH7	5099	genome.wustl.edu	37	4	30724797	30724797	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:30724797G>A	ENST00000361762.2	+	1	2761	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D585N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	585	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTTTGCCATCGATCCCGATTC	0.572																																						dbGAP											0													59.0	53.0	55.0					4																	30724797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1753G>A	4.37:g.30724797G>A	ENSP00000355243:p.Asp585Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D585N	ENST00000361762.2	37	c.1753	CCDS33971.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.38|15.38	2.815172|2.815172	0.50527|0.50527	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.22134|.	1.97;1.97|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.50429|0.50429	0.1615|0.1615	N|N	0.17631|0.17631	0.505|0.505	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.30455|.	0.28;0.28;0.128|.	B;B;B|.	0.25987|.	0.056;0.056;0.065|.	T|T	0.41875|0.41875	-0.9484|-0.9484	9|5	0.59425|.	D|.	0.04|.	.|.	14.852|14.852	0.70303|0.70303	0.0:0.1432:0.8568:0.0|0.0:0.1432:0.8568:0.0	.|.	585;538;585|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	N|Q	585;585;538|274	ENSP00000355243:D585N;ENSP00000441802:D585N|.	ENSP00000330302:D538N|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30333895|30333895	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	7.681000|7.681000	0.84073|0.84073	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAT|CGA	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000169851		0.572	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	31	0.00	0	G	NM_032457, NM_002589		30724797	30724797	+1	no_errors	ENST00000543491	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	1.000	A
PCDH9	5101	genome.wustl.edu	37	13	67802412	67802412	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:67802412G>A	ENST00000377865.2	-	1	295	c.161C>T	c.(160-162)gCt>gTt	p.A54V	PCDH9_ENST00000328454.5_Missense_Mutation_p.A54V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A54V|PCDH9_ENST00000544246.1_Missense_Mutation_p.A54V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A54V			Q9HC56	PCDH9_HUMAN	protocadherin 9	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCCTGTGGCAGCATTGATGTG	0.453																																						dbGAP											0													92.0	89.0	90.0					13																	67802412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.161C>T	13.37:g.67802412G>A	ENSP00000367096:p.Ala54Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A54V	ENST00000377865.2	37	c.161	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956897	0.34565	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.82	5.82	0.92795	Cadherin, N-terminal (1);Cadherin (3);	0.049067	0.85682	D	0.000000	T	0.23688	0.0573	L	0.29908	0.895	0.80722	D	1	B;B;B;P	0.36183	0.372;0.152;0.321;0.542	B;B;B;B	0.36030	0.216;0.102;0.138;0.216	T	0.01570	-1.1322	10	0.29301	T	0.29	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	54;54;54;54	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	54	ENSP00000442186:A54V;ENSP00000367096:A54V;ENSP00000401699:A54V;ENSP00000332060:A54V;ENSP00000367092:A54V	ENSP00000332060:A54V	A	-	2	0	PCDH9	66700413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.754000	0.94517	0.650000	0.86243	GCT	PCDH9	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	147	0.00	0	G	NM_203487		67802412	67802412	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	72	25.00	24	SNP	1.000	A
PCDHA1	56147	genome.wustl.edu	37	5	140165977	140165977	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140165977G>A	ENST00000504120.2	+	1	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	PCDHA1_ENST00000378133.3_Silent_p.S34S|PCDHA1_ENST00000394633.3_Silent_p.S34S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	34	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCGATCCCGGAGG	0.657																																						dbGAP											0													45.0	54.0	51.0					5																	140165977		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.102G>A	5.37:g.140165977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S34	ENST00000504120.2	37	c.102	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204970		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	66	0.00	0	G	NM_018900		140165977	140165977	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	0.738	A
PCDHA10	56139	genome.wustl.edu	37	5	140236122	140236122	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140236122G>T	ENST00000307360.5	+	1	489	c.489G>T	c.(487-489)gaG>gaT	p.E163D	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E163D|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTGGAGAGAACGCATTGC	0.413																																						dbGAP											0													115.0	122.0	120.0					5																	140236122		2197	4272	6469	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.489G>T	5.37:g.140236122G>T	ENSP00000304234:p.Glu163Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E163D	ENST00000307360.5	37	c.489	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395641	0.25205	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.20332	2.08;2.08	4.24	1.16	0.20824	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.09379	0.0231	N	0.17723	0.515	0.09310	N	0.999997	B;B;P	0.36412	0.026;0.291;0.552	B;B;B	0.33960	0.035;0.067;0.173	T	0.21211	-1.0252	9	0.17832	T	0.49	.	1.9453	0.03355	0.1618:0.1322:0.4356:0.2704	.	163;163;163	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	D	163	ENSP00000421030:E163D;ENSP00000304234:E163D	ENSP00000304234:E163D	E	+	3	2	PCDHA10	140216306	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	-2.538000	0.00938	0.517000	0.28361	0.561000	0.74099	GAG	PCDHA10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.413	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	50	0.00	0	G	NM_018901		140236122	140236122	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	0.305	T
PCDHA10	56139	genome.wustl.edu	37	5	140236699	140236699	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140236699C>A	ENST00000307360.5	+	1	1066	c.1066C>A	c.(1066-1068)Ctc>Atc	p.L356I	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.L356I|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCTGTCTCTCCCAGTGAA	0.493																																						dbGAP											0													155.0	141.0	146.0					5																	140236699		2196	4274	6470	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1066C>A	5.37:g.140236699C>A	ENSP00000304234:p.Leu356Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L356I	ENST00000307360.5	37	c.1066	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340941	0.24339	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.20200	4.58;2.09	4.15	0.0494	0.14289	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.14700	0.0355	L	0.31157	0.91	0.09310	N	1	P;P;P	0.41265	0.744;0.589;0.566	B;B;B	0.43225	0.412;0.363;0.198	T	0.15925	-1.0420	9	0.46703	T	0.11	.	2.9888	0.05977	0.1193:0.2137:0.4434:0.2236	.	356;356;356	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	I	356	ENSP00000421030:L356I;ENSP00000304234:L356I	ENSP00000304234:L356I	L	+	1	0	PCDHA10	140216883	0.000000	0.05858	0.052000	0.19188	0.972000	0.66771	0.607000	0.24209	0.104000	0.17725	0.561000	0.74099	CTC	PCDHA10	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000250120		0.493	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	81	0.00	0	C	NM_018901		140236699	140236699	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	39	30.36	17	SNP	0.000	A
PCDHA13	56136	genome.wustl.edu	37	5	140261962	140261962	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140261962G>A	ENST00000289272.2	+	1	109	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E37K|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	37	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGTCCCCGAGGAAGCAAA	0.657																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0													78.0	85.0	83.0					5																	140261962		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.109G>A	5.37:g.140261962G>A	ENSP00000289272:p.Glu37Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E37K	ENST00000289272.2	37	c.109	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930267	0.73327	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.60299	0.2;0.2	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	D	0.87577	0.6212	H	0.99535	4.615	0.46203	D	0.998926	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92898	0.6337	9	0.87932	D	0	.	19.1623	0.93539	0.0:0.0:1.0:0.0	.	37;37;37	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	37	ENSP00000386821:E37K;ENSP00000289272:E37K	ENSP00000289272:E37K	E	+	1	0	PCDHA13	140242146	1.000000	0.71417	0.955000	0.39395	0.158000	0.22134	9.338000	0.96553	2.621000	0.88768	0.561000	0.74099	GAG	PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000239389		0.657	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	62	0.00	0	G	NM_018904		140261962	140261962	+1	no_errors	ENST00000289272	ensembl	human	known	69_37n	missense	22	20.69	6	SNP	1.000	A
PCDHA13	56136	genome.wustl.edu	37	5	140262124	140262124	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140262124G>A	ENST00000289272.2	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D91N|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D91N(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCGGATCGACCGCGAGGA	0.592																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											1	Substitution - Missense(1)	cervix(1)											119.0	131.0	127.0					5																	140262124		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.271G>A	5.37:g.140262124G>A	ENSP00000289272:p.Asp91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D91N	ENST00000289272.2	37	c.271	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.242002	0.95272	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52295	0.67;0.67	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80534	0.4641	H	0.97707	4.06	0.48762	D	0.999701	D;D;D	0.69078	0.997;0.991;0.988	D;D;P	0.68192	0.91;0.956;0.704	D	0.87435	0.2391	9	0.87932	D	0	.	19.1623	0.93539	0.0:0.0:1.0:0.0	.	91;91;91	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	N	91	ENSP00000386821:D91N;ENSP00000289272:D91N	ENSP00000289272:D91N	D	+	1	0	PCDHA13	140242308	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.731000	0.98807	2.621000	0.88768	0.561000	0.74099	GAC	PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.592	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	94	0.00	0	G	NM_018904		140262124	140262124	+1	no_errors	ENST00000289272	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	A
PCDHA7	56141	genome.wustl.edu	37	5	140214929	140214929	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140214929G>A	ENST00000525929.1	+	1	961	c.961G>A	c.(961-963)Gag>Aag	p.E321K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E321K|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	321	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCCAGTCGAGGCTGTCGA	0.453																																					NSCLC(160;258 2013 5070 22440 28951)	dbGAP											0													126.0	111.0	116.0					5																	140214929		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.961G>A	5.37:g.140214929G>A	ENSP00000436426:p.Glu321Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E321K	ENST00000525929.1	37	c.961	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	1.873	-0.459794	0.04508	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01705	4.68;4.68	4.04	1.08	0.20341	Cadherin (4);Cadherin-like (1);	0.630788	0.11710	U	0.537042	T	0.02083	0.0065	L	0.46741	1.465	0.09310	N	1	B;B	0.26147	0.118;0.143	B;B	0.26310	0.025;0.068	T	0.44651	-0.9314	10	0.39692	T	0.17	.	5.9454	0.19215	0.2398:0.193:0.5673:0.0	.	321;321	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	K	321	ENSP00000436426:E321K;ENSP00000367365:E321K	ENSP00000367365:E321K	E	+	1	0	PCDHA7	140195113	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.369000	0.07533	-0.024000	0.13941	0.305000	0.20034	GAG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.453	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	214	0.00	0	G	NM_018910		140214929	140214929	+1	no_errors	ENST00000525929	ensembl	human	known	69_37n	missense	118	15.71	22	SNP	0.000	A
PCDHA8	56140	genome.wustl.edu	37	5	140221358	140221358	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140221358G>A	ENST00000531613.1	+	1	452	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R151Q	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	151					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACTCTCGGTTTCCGCTA	0.483																																						dbGAP											0													82.0	89.0	87.0					5																	140221358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.452G>A	5.37:g.140221358G>A	ENSP00000434655:p.Arg151Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R151Q	ENST00000531613.1	37	c.452	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901422	0.92035	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.52526	0.66;0.66	3.72	3.72	0.42706	Cadherin (2);Cadherin-like (1);	2.567710	0.02688	U	0.110285	T	0.65811	0.2727	M	0.78801	2.425	0.23376	N	0.997807	P;B	0.34522	0.455;0.4	B;B	0.43867	0.434;0.143	T	0.61342	-0.7082	10	0.72032	D	0.01	.	15.9239	0.79597	0.0:0.0:1.0:0.0	.	151;151	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	Q	151	ENSP00000434655:R151Q;ENSP00000367363:R151Q	ENSP00000367363:R151Q	R	+	2	0	PCDHA8	140201542	0.012000	0.17670	0.502000	0.27614	0.893000	0.52053	1.737000	0.38197	1.794000	0.52575	0.552000	0.68991	CGG	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000204962		0.483	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	73	0.00	0	G	NM_018911		140221358	140221358	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	missense	51	10.53	6	SNP	0.932	A
PCDHA9	9752	genome.wustl.edu	37	5	140230162	140230162	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140230162G>T	ENST00000532602.1	+	1	3115	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.V694V|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	694					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V694V(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCTGGTGGATGTCAACG	0.652																																					Melanoma(55;1800 1972 14909)	dbGAP											2	Substitution - coding silent(2)	cervix(2)											70.0	65.0	67.0					5																	140230162		2196	4273	6469	-	-	-	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2082G>T	5.37:g.140230162G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V694	ENST00000532602.1	37	c.2082	CCDS54920.1	5																																																																																			PCDHA9	-	NULL	ENSG00000204961		0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	49	0.00	0	G	NM_031857		140230162	140230162	+1	no_errors	ENST00000532602	ensembl	human	known	69_37n	silent	19	34.48	10	SNP	0.371	T
PCDHA13	56136	genome.wustl.edu	37	5	140263651	140263651	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140263651G>A	ENST00000289272.2	+	1	1798	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D600N|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	600	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGACGCCGATTCGGGCTA	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0													67.0	72.0	70.0					5																	140263651		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1798G>A	5.37:g.140263651G>A	ENSP00000289272:p.Asp600Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D600N	ENST00000289272.2	37	c.1798	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035113	0.54896	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.74002	-0.8;-0.8	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92593	0.7647	H	0.99634	4.67	0.35715	D	0.816718	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98523	1.0624	9	0.87932	D	0	.	16.3687	0.83346	0.0:0.0:1.0:0.0	.	600;600;600	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	N	600	ENSP00000386821:D600N;ENSP00000289272:D600N	ENSP00000289272:D600N	D	+	1	0	PCDHA13	140243835	1.000000	0.71417	0.986000	0.45419	0.190000	0.23558	6.544000	0.73878	2.144000	0.66660	0.655000	0.94253	GAT	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	61	0.00	0	G	NM_018904		140263651	140263651	+1	no_errors	ENST00000289272	ensembl	human	known	69_37n	missense	23	27.27	9	SNP	0.998	A
PCDHAC1	56135	genome.wustl.edu	37	5	140306991	140306991	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140306991G>A	ENST00000253807.2	+	1	514	c.514G>A	c.(514-516)Gac>Aac	p.D172N	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D172N|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCGCCTGGACATGGGATC	0.597																																						dbGAP											0													78.0	84.0	82.0					5																	140306991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.514G>A	5.37:g.140306991G>A	ENSP00000253807:p.Asp172Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D172N	ENST00000253807.2	37	c.514	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337175	0.41398	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.52754	0.65;0.65	5.7	3.91	0.45181	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41926	0.1180	L	0.38692	1.165	0.24658	N	0.993484	B;B	0.23377	0.084;0.026	B;B	0.34093	0.175;0.015	T	0.37430	-0.9706	9	0.32370	T	0.25	.	10.9725	0.47446	0.0673:0.0:0.8029:0.1298	.	172;172	Q9H158;Q9H158-2	PCDC1_HUMAN;.	N	172	ENSP00000386356:D172N;ENSP00000253807:D172N	ENSP00000253807:D172N	D	+	1	0	PCDHAC1	140287175	1.000000	0.71417	0.717000	0.30585	0.890000	0.51754	2.711000	0.47177	0.741000	0.32674	0.561000	0.74099	GAC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.597	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	65	0.00	0	G	NM_018898		140306991	140306991	+1	no_errors	ENST00000253807	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.986	A
PCDHAC1	56135	genome.wustl.edu	37	5	140307480	140307480	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140307480G>A	ENST00000253807.2	+	1	1003	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.D335N|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGTGAACGATCATGCCCC	0.532																																						dbGAP											0													177.0	162.0	167.0					5																	140307480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1003G>A	5.37:g.140307480G>A	ENSP00000253807:p.Asp335Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D335N	ENST00000253807.2	37	c.1003	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973973	0.53720	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.75367	-0.93;-0.93	5.91	5.04	0.67666	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83413	0.5249	M	0.73598	2.24	0.31591	N	0.65386	D;D	0.76494	0.999;0.998	D;P	0.65987	0.94;0.867	D	0.84918	0.0852	9	0.87932	D	0	.	9.6776	0.40050	0.1962:0.0:0.8038:0.0	.	335;335	Q9H158;Q9H158-2	PCDC1_HUMAN;.	N	335	ENSP00000386356:D335N;ENSP00000253807:D335N	ENSP00000253807:D335N	D	+	1	0	PCDHAC1	140287664	1.000000	0.71417	0.561000	0.28357	0.493000	0.33554	6.470000	0.73558	1.518000	0.48934	-0.379000	0.06801	GAT	PCDHAC1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.532	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	187	0.00	0	G	NM_018898		140307480	140307480	+1	no_errors	ENST00000253807	ensembl	human	known	69_37n	missense	96	21.77	27	SNP	1.000	A
PCDHAC1	56135	genome.wustl.edu	37	5	140308192	140308192	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140308192G>A	ENST00000253807.2	+	1	1715	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R572H|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	572	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGTGCCCCGCTCTGCCAGG	0.493																																						dbGAP											0													111.0	116.0	114.0					5																	140308192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1715G>A	5.37:g.140308192G>A	ENSP00000253807:p.Arg572His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R572H	ENST00000253807.2	37	c.1715	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322253	0.60634	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.51325	0.71;0.71	5.95	4.13	0.48395	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68751	0.3035	M	0.85299	2.745	0.22754	N	0.998771	D;D	0.76494	0.998;0.999	D;P	0.64410	0.925;0.886	T	0.61372	-0.7076	9	0.66056	D	0.02	.	11.5075	0.50474	0.0652:0.0:0.8089:0.1259	.	572;572	Q9H158;Q9H158-2	PCDC1_HUMAN;.	H	572	ENSP00000386356:R572H;ENSP00000253807:R572H	ENSP00000253807:R572H	R	+	2	0	PCDHAC1	140288376	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	0.689000	0.25437	0.813000	0.34350	0.563000	0.77884	CGC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000248383		0.493	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	164	0.00	0	G	NM_018898		140308192	140308192	+1	no_errors	ENST00000253807	ensembl	human	known	69_37n	missense	78	29.73	33	SNP	0.970	A
PCDHAC2	56134	genome.wustl.edu	37	5	140348138	140348138	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140348138G>A	ENST00000289269.5	+	1	2319	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	596	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R596Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGCCTCGAACTGCCCCT	0.517																																					Melanoma(190;638 2083 3390 11909 52360)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											95.0	83.0	87.0					5																	140348138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1787G>A	5.37:g.140348138G>A	ENSP00000289269:p.Arg596Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R596Q	ENST00000289269.5	37	c.1787	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603927	0.66445	.	.	ENSG00000243232	ENST00000289269	T	0.50277	0.75	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.000000	0.34484	N	0.003932	T	0.68732	0.3033	M	0.66506	2.035	0.43399	D	0.995522	P;D	0.89917	0.932;1.0	P;D	0.67900	0.54;0.954	T	0.68112	-0.5495	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	596;596	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	Q	596	ENSP00000289269:R596Q	ENSP00000289269:R596Q	R	+	2	0	PCDHAC2	140328322	0.003000	0.15002	1.000000	0.80357	0.997000	0.91878	1.480000	0.35464	2.865000	0.98341	0.655000	0.94253	CGA	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000243232		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	150	0.00	0	G	NM_018899		140348138	140348138	+1	no_errors	ENST00000289269	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	1.000	A
PCDHB1	29930	genome.wustl.edu	37	5	140431478	140431478	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140431478G>T	ENST00000306549.3	+	1	500	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	141	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K141N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTTTTAAAGATTCCGGAGA	0.547																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											35.0	37.0	36.0					5																	140431478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.423G>T	5.37:g.140431478G>T	ENSP00000307234:p.Lys141Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K141N	ENST00000306549.3	37	c.423	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584853	0.28268	.	.	ENSG00000171815	ENST00000306549	T	0.52057	0.68	5.91	4.12	0.48240	Cadherin (3);Cadherin-like (1);	0.263228	0.26832	N	0.022280	T	0.35998	0.0951	L	0.39898	1.24	0.33339	D	0.569614	B	0.16603	0.018	B	0.15870	0.014	T	0.44982	-0.9292	10	0.44086	T	0.13	.	7.8163	0.29260	0.3311:0.0:0.6689:0.0	.	141	Q9Y5F3	PCDB1_HUMAN	N	141	ENSP00000307234:K141N	ENSP00000307234:K141N	K	+	3	2	PCDHB1	140411662	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-1.015000	0.03637	1.516000	0.48900	0.655000	0.94253	AAG	PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000171815		0.547	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	63	0.00	0	G	NM_013340		140431478	140431478	+1	no_errors	ENST00000306549	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	T
PCDHB11	56125	genome.wustl.edu	37	5	140580089	140580089	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140580089G>A	ENST00000354757.3	+	1	742	c.742G>A	c.(742-744)Gag>Aag	p.E248K	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTTTTATGAGGTGAAGAT	0.473																																						dbGAP											0													172.0	176.0	175.0					5																	140580089		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.742G>A	5.37:g.140580089G>A	ENSP00000346802:p.Glu248Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E248K	ENST00000354757.3	37	c.742	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	6.990	0.552695	0.13374	.	.	ENSG00000197479	ENST00000354757	T	0.01725	4.67	2.7	1.79	0.24919	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01454	0.0047	N	0.17764	0.52	0.80722	D	1	B	0.16166	0.016	B	0.29077	0.098	T	0.55444	-0.8140	9	0.38643	T	0.18	.	4.0738	0.09894	0.227:0.2061:0.5669:0.0	.	248	Q9Y5F2	PCDBB_HUMAN	K	248	ENSP00000346802:E248K	ENSP00000346802:E248K	E	+	1	0	PCDHB11	140560273	0.000000	0.05858	0.030000	0.17652	0.225000	0.24961	0.537000	0.23144	0.432000	0.26286	0.467000	0.42956	GAG	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197479		0.473	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	146	0.00	0	G	NM_018931		140580089	140580089	+1	no_errors	ENST00000354757	ensembl	human	known	69_37n	missense	100	12.28	14	SNP	0.989	A
PCDHB13	56123	genome.wustl.edu	37	5	140595018	140595018	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140595018C>T	ENST00000341948.4	+	1	1510	c.1323C>T	c.(1321-1323)atC>atT	p.I441I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGATCGCCGATGTCA	0.552																																						dbGAP											0													152.0	134.0	140.0					5																	140595018		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1323C>T	5.37:g.140595018C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I441	ENST00000341948.4	37	c.1323	CCDS4255.1	5																																																																																			PCDHB13	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.552	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	183	0.00	0	C	NM_018933		140595018	140595018	+1	no_errors	ENST00000341948	ensembl	human	known	69_37n	silent	81	33.87	42	SNP	0.001	T
PCDHB13	56123	genome.wustl.edu	37	5	140595806	140595806	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140595806C>T	ENST00000341948.4	+	1	2298	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	704					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S704L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.687																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											91.0	98.0	96.0					5																	140595806		2201	4289	6490	-	-	-	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2111C>T	5.37:g.140595806C>T	ENSP00000345491:p.Ser704Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S704L	ENST00000341948.4	37	c.2111	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	14.94	2.684665	0.47991	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.20463	2.07	3.5	-1.21	0.09524	.	.	.	.	.	T	0.47358	0.1441	H	0.96970	3.915	0.09310	N	1	D	0.62365	0.991	P	0.53035	0.716	T	0.45381	-0.9265	9	0.56958	D	0.05	.	9.6602	0.39950	0.0:0.3473:0.5625:0.0902	.	704	Q9Y5F0	PCDBD_HUMAN	L	704;704;650	ENSP00000345491:S704L	ENSP00000345491:S704L	S	+	2	0	PCDHB13	140575990	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.009000	0.03660	-0.623000	0.05618	-0.736000	0.03550	TCG	PCDHB13	-	NULL	ENSG00000187372		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	146	0.00	0	C	NM_018933		140595806	140595806	+1	no_errors	ENST00000341948	ensembl	human	known	69_37n	missense	53	15.87	10	SNP	0.000	T
PCDHB15	56121	genome.wustl.edu	37	5	140626663	140626663	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140626663T>C	ENST00000231173.3	+	1	1517	c.1517T>C	c.(1516-1518)aTt>aCt	p.I506T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTCTCCATTAACACGGAC	0.677																																						dbGAP											0													102.0	111.0	108.0					5																	140626663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1517T>C	5.37:g.140626663T>C	ENSP00000231173:p.Ile506Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I506T	ENST00000231173.3	37	c.1517	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	T	13.48	2.251223	0.39797	.	.	ENSG00000113248	ENST00000231173	T	0.72942	-0.7	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.87845	0.6280	H	0.95004	3.61	0.40522	D	0.980848	D	0.76494	0.999	D	0.80764	0.994	D	0.91677	0.5355	9	0.87932	D	0	.	14.2933	0.66295	0.0:0.0:0.0:1.0	.	506	Q9Y5E8	PCDBF_HUMAN	T	506	ENSP00000231173:I506T	ENSP00000231173:I506T	I	+	2	0	PCDHB15	140606847	0.992000	0.36948	0.744000	0.31058	0.009000	0.06853	7.829000	0.86735	1.927000	0.55829	0.477000	0.44152	ATT	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113248		0.677	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	111	0.00	0	T	NM_018935		140626663	140626663	+1	no_errors	ENST00000231173	ensembl	human	known	69_37n	missense	57	17.39	12	SNP	0.933	C
PCDHGA11	56105	genome.wustl.edu	37	5	140801641	140801641	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140801641C>T	ENST00000398587.2	+	1	880	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R283W|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	283	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTATTCATTTCGGAACATGGA	0.433																																						dbGAP											0													136.0	136.0	136.0					5																	140801641		1838	4098	5936	-	-	-	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.847C>T	5.37:g.140801641C>T	ENSP00000381589:p.Arg283Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R283W	ENST00000398587.2	37	c.847	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	c	1.776	-0.483077	0.04383	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.01787	4.64;4.64	5.82	0.0137	0.14097	Cadherin (4);Cadherin-like (1);	5.798790	0.03273	U	0.185093	T	0.03220	0.0094	M	0.69248	2.105	0.09310	N	1	B;B;B	0.33694	0.103;0.421;0.038	B;B;B	0.19391	0.022;0.025;0.02	T	0.52668	-0.8545	10	0.33940	T	0.23	.	12.85	0.57852	0.5137:0.4016:0.0847:0.0	.	283;283;283	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	W	283	ENSP00000381589:R283W;ENSP00000428333:R283W	ENSP00000381589:R283W	R	+	1	2	PCDHGA11	140781825	0.000000	0.05858	0.813000	0.32504	0.152000	0.21847	-0.447000	0.06828	0.054000	0.16065	-0.182000	0.12963	CGG	PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.433	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	48	0.00	0	C	NM_018914		140801641	140801641	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	0.006	T
PCDHGA3	56112	genome.wustl.edu	37	5	140725166	140725166	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140725166C>T	ENST00000253812.6	+	1	1566	c.1566C>T	c.(1564-1566)taC>taT	p.Y522Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y522Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGACTACGAGCAATTTA	0.562																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											97.0	109.0	105.0					5																	140725166		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1566C>T	5.37:g.140725166C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y522	ENST00000253812.6	37	c.1566	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254245		0.562	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	79	0.00	0	C	NM_018916		140725166	140725166	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	56	12.50	8	SNP	0.986	T
PCDHGA8	9708	genome.wustl.edu	37	5	140774123	140774123	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140774123C>T	ENST00000398604.2	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	581	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCGCTCCGCAGAGCGTG	0.677																																						dbGAP											0													76.0	88.0	84.0					5																	140774123		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1743C>T	5.37:g.140774123C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S581	ENST00000398604.2	37	c.1743	CCDS47291.1	5																																																																																			PCDHGA8	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253767		0.677	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	38	0.00	0	C	NM_032088		140774123	140774123	+1	no_errors	ENST00000398604	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.221	T
PCDHGB6	56100	genome.wustl.edu	37	5	140788897	140788897	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140788897C>T	ENST00000520790.1	+	1	1128	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGGATTTCGGAGGAAATG	0.413																																						dbGAP											0													52.0	52.0	52.0					5																	140788897		1852	4111	5963	-	-	-	SO:0001819	synonymous_variant	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1128C>T	5.37:g.140788897C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F376	ENST00000520790.1	37	c.1128	CCDS54929.1	5																																																																																			PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253305		0.413	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	54	0.00	0	C	NM_018926		140788897	140788897	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	0.010	T
PCDHGB7	56099	genome.wustl.edu	37	5	140797923	140797923	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140797923C>T	ENST00000398594.2	+	1	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTATGAATTCGCTGAGCAAA	0.398																																						dbGAP											0													65.0	63.0	64.0					5																	140797923		1892	4121	6013	-	-	-	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.497C>T	5.37:g.140797923C>T	ENSP00000381594:p.Ser166Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S166L	ENST00000398594.2	37	c.497	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	c	18.94	3.729857	0.69074	.	.	ENSG00000254122	ENST00000398594	T	0.22336	1.96	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.295611	0.18071	U	0.152609	T	0.62392	0.2424	H	0.96720	3.87	0.24342	N	0.994958	D;D	0.76494	0.998;0.999	D;P	0.62955	0.909;0.903	T	0.66272	-0.5965	10	0.87932	D	0	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	166;166	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	166	ENSP00000381594:S166L	ENSP00000381594:S166L	S	+	2	0	PCDHGB7	140778107	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	0.827000	0.27421	2.826000	0.97356	0.655000	0.94253	TCG	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.398	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	88	0.00	0	C	NM_018927		140797923	140797923	+1	no_errors	ENST00000398594	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	0.991	T
PCDHGA11	56105	genome.wustl.edu	37	5	140802357	140802357	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140802357C>T	ENST00000398587.2	+	1	1596	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.F521F|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F521F(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATCCTTCGACTATGAGC	0.537																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											117.0	134.0	128.0					5																	140802357		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1563C>T	5.37:g.140802357C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F521	ENST00000398587.2	37	c.1563	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000253873		0.537	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	75	0.00	0	C	NM_018914		140802357	140802357	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	silent	52	13.33	8	SNP	0.344	T
PCDHGC4	56098	genome.wustl.edu	37	5	140865237	140865237	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140865237C>T	ENST00000306593.1	+	1	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	166	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCAATTCGATTAGCAGC	0.567																																						dbGAP											0													61.0	63.0	62.0					5																	140865237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.497C>T	5.37:g.140865237C>T	ENSP00000306918:p.Ser166Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S166L	ENST00000306593.1	37	c.497	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586749	0.66105	.	.	ENSG00000242419	ENST00000306593	T	0.22336	1.96	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59004	0.2162	M	0.93854	3.465	0.34016	D	0.652031	D;D	0.89917	0.997;1.0	P;D	0.76071	0.866;0.987	T	0.77011	-0.2746	9	0.87932	D	0	.	18.4946	0.90860	0.0:1.0:0.0:0.0	.	166;166	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	166	ENSP00000306918:S166L	ENSP00000306918:S166L	S	+	2	0	PCDHGC4	140845421	0.051000	0.20477	1.000000	0.80357	0.977000	0.68977	3.054000	0.49908	2.596000	0.87737	0.561000	0.74099	TCG	PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000242419		0.567	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	92	0.00	0	C	NM_018928		140865237	140865237	+1	no_errors	ENST00000306593	ensembl	human	known	69_37n	missense	36	32.08	17	SNP	1.000	T
CFAP221	200373	genome.wustl.edu	37	2	120369304	120369304	+	Missense_Mutation	SNP	C	C	T	rs552536625		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:120369304C>T	ENST00000413369.3	+	13	1384	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Missense_Mutation_p.R147C	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					ACGGGTTGTTCGCAATCAAGA	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		16044	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													74.0	74.0	74.0					2																	120369304		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000413369.3:c.1297C>T	2.37:g.120369304C>T	ENSP00000393222:p.Arg433Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R433C	ENST00000413369.3	37	c.1297	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741166	0.49151	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.20332	2.08	4.39	4.39	0.52855	.	0.412136	0.21898	N	0.067495	T	0.39682	0.1087	L	0.55990	1.75	0.43522	D	0.995793	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.19451	-1.0305	10	0.87932	D	0	-0.48	12.3353	0.55062	0.0:1.0:0.0:0.0	.	277;433	Q4G0U5-3;Q4G0U5	.;PCDP1_HUMAN	C	147;433	ENSP00000393222:R433C	ENSP00000295220:R147C	R	+	1	0	AC069154.2	120085774	0.494000	0.26043	0.003000	0.11579	0.003000	0.03518	4.360000	0.59455	2.253000	0.74438	0.650000	0.86243	CGC	AC069154.2	-	NULL	ENSG00000163075		0.328	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000464236.1	461	0.00	0	C			120369304	120369304	+1	no_errors	ENST00000413369	ensembl	human	known	69_37n	missense	284	14.16	47	SNP	0.005	T
PCED1B	91523	genome.wustl.edu	37	12	47629954	47629954	+	Missense_Mutation	SNP	G	G	A	rs267603480		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:47629954G>A	ENST00000546455.1	+	4	1839	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	PCED1B_ENST00000432328.1_Missense_Mutation_p.E370K|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	370	Pro-rich.						hydrolase activity (GO:0016787)	p.E370*(1)									TTTCTTCGTCGAAGACAATTT	0.517																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											154.0	150.0	152.0					12																	47629954		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1108G>A	12.37:g.47629954G>A	ENSP00000446688:p.Glu370Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.E370K	ENST00000546455.1	37	c.1108	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690836	0.15039	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.32272	1.46;1.46	4.04	0.0106	0.14083	.	0.794299	0.10735	N	0.640108	T	0.20861	0.0502	L	0.29908	0.895	0.09310	N	1	B	0.31837	0.342	B	0.21151	0.033	T	0.07290	-1.0780	10	0.23302	T	0.38	-5.5517	15.5827	0.76459	0.0:0.5361:0.4639:0.0	.	370	Q96HM7	F113B_HUMAN	K	370	ENSP00000446688:E370K;ENSP00000396040:E370K	ENSP00000396040:E370K	E	+	1	0	FAM113B	45916221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.205000	0.17356	-0.213000	0.10094	-2.241000	0.00287	GAA	PCED1B	-	NULL	ENSG00000179715		0.517	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	200	0.00	0	G	NM_138371		47629954	47629954	+1	no_errors	ENST00000432328	ensembl	human	known	69_37n	missense	105	12.50	15	SNP	0.000	A
PCF11	51585	genome.wustl.edu	37	11	82879521	82879521	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:82879521G>A	ENST00000298281.4	+	8	2596	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	715	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCACTTAAGCGACCTCGATAT	0.373																																						dbGAP											0													62.0	61.0	61.0					11																	82879521		1865	4097	5962	-	-	-	SO:0001583	missense	0			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2144G>A	11.37:g.82879521G>A	ENSP00000298281:p.Arg715Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.R715Q	ENST00000298281.4	37	c.2144	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367487	0.61513	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52057	1.66;0.78;0.68	6.16	6.16	0.99307	.	0.000000	0.49916	D	0.000130	T	0.57184	0.2036	N	0.24115	0.695	0.37236	D	0.905897	D;D	0.69078	0.993;0.997	P;D	0.70227	0.543;0.968	T	0.54430	-0.8295	9	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	846;715	E9PQ01;O94913	.;PCF11_HUMAN	Q	715;846;715	ENSP00000298281:R715Q;ENSP00000434540:R846Q;ENSP00000431567:R715Q	.	R	+	2	0	PCF11	82557169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.125000	0.64715	2.937000	0.99478	0.650000	0.86243	CGA	PCF11	-	NULL	ENSG00000165494		0.373	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	56	0.00	0	G	NM_015885		82879521	82879521	+1	no_errors	ENST00000298281	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	1.000	A
PCGF2	7703	genome.wustl.edu	37	17	36895346	36895346	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:36895346G>T	ENST00000580830.1	-	7	992	c.291C>A	c.(289-291)ttC>ttA	p.F97L	PCGF2_ENST00000585100.1_Missense_Mutation_p.F97L|PCGF2_ENST00000579882.1_Missense_Mutation_p.F97L|PCGF2_ENST00000360797.2_Missense_Mutation_p.F97L|PCGF2_ENST00000578109.1_Missense_Mutation_p.F43L|PCGF2_ENST00000581345.1_Missense_Mutation_p.F97L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	97					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACGCTGCATAGAAATCCCGCC	0.582																																						dbGAP											0													108.0	103.0	105.0					17																	36895346		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.291C>A	17.37:g.36895346G>T	ENSP00000461961:p.Phe97Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGD8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.F97L	ENST00000580830.1	37	c.291	CCDS32638.1	17	.	.	.	.	.	.	.	.	.	.	G	8.228	0.803915	0.16467	.	.	ENSG00000056661	ENST00000360797	T	0.45276	0.9	4.83	2.79	0.32731	.	0.275072	0.36482	N	0.002573	T	0.66674	0.2813	M	0.93420	3.415	0.45390	D	0.99837	D	0.69078	0.997	D	0.66602	0.945	T	0.70934	-0.4737	10	0.59425	D	0.04	-20.2244	8.0848	0.30765	0.2568:0.0:0.7432:0.0	.	97	P35227	PCGF2_HUMAN	L	97	ENSP00000354033:F97L	ENSP00000354033:F97L	F	-	3	2	PCGF2	34148872	1.000000	0.71417	0.812000	0.32479	0.054000	0.15201	1.647000	0.37260	1.246000	0.43901	0.462000	0.41574	TTC	PCGF2	-	NULL	ENSG00000056661		0.582	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2	342	0.00	0	G	NM_007144		36895346	36895346	-1	no_errors	ENST00000360797	ensembl	human	known	69_37n	missense	218	13.49	34	SNP	1.000	T
PCID2	55795	genome.wustl.edu	37	13	113852542	113852542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:113852542C>A	ENST00000337344.4	-	3	239	c.163G>T	c.(163-165)Gaa>Taa	p.E55*	PCID2_ENST00000375477.1_Nonsense_Mutation_p.E55*|PCID2_ENST00000375457.2_Nonsense_Mutation_p.E53*|PCID2_ENST00000246505.5_Nonsense_Mutation_p.E55*|PCID2_ENST00000375479.2_Nonsense_Mutation_p.E55*|PCID2_ENST00000375459.1_Nonsense_Mutation_p.E53*	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	55					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TAAGGGGGTTCCAAGACTTGT	0.363																																						dbGAP											0													115.0	119.0	117.0					13																	113852542		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.163G>T	13.37:g.113852542C>A	ENSP00000337405:p.Glu55*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Nonsense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.E55*	ENST00000337344.4	37	c.163	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	C	36	5.878488	0.97055	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.33	5.33	0.75918	.	0.047135	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-16.1004	17.8208	0.88650	0.0:1.0:0.0:0.0	.	.	.	.	X	55;55;55;55;53;53;55;53;55	.	ENSP00000246505:E55X	E	-	1	0	PCID2	112900543	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	6.737000	0.74816	2.490000	0.84030	0.655000	0.94253	GAA	PCID2	-	NULL	ENSG00000126226		0.363	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	91	0.00	0	C	NM_018386		113852542	113852542	-1	no_errors	ENST00000246505	ensembl	human	known	69_37n	nonsense	71	16.47	14	SNP	1.000	A
PCIF1	63935	genome.wustl.edu	37	20	44574937	44574937	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:44574937C>T	ENST00000372409.3	+	14	1891	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	509					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCGTCAGCTTCGAGTGCTTCG	0.622																																						dbGAP											0													122.0	112.0	116.0					20																	44574937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1527C>T	20.37:g.44574937C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5P1|Q54AB9|Q9NT85	Silent	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.F509	ENST00000372409.3	37	c.1527	CCDS13388.1	20																																																																																			PCIF1	-	pfam_PCIF1_WW	ENSG00000100982		0.622	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	60	0.00	0	C	NM_022104		44574937	44574937	+1	no_errors	ENST00000372409	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.524	T
PCK1	5105	genome.wustl.edu	37	20	56137271	56137271	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:56137271G>T	ENST00000319441.4	+	3	533	c.369G>T	c.(367-369)gaG>gaT	p.E123D	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	123					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGGATTTTGAGAAAGCGTTCA	0.493																																						dbGAP											0													75.0	71.0	72.0					20																	56137271		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.369G>T	20.37:g.56137271G>T	ENSP00000319814:p.Glu123Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.E123D	ENST00000319441.4	37	c.369	CCDS13460.1	20	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915846	0.33815	.	.	ENSG00000124253	ENST00000319441	T	0.04406	3.63	5.57	4.62	0.57501	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.135847	0.64402	D	0.000003	T	0.03095	0.0091	N	0.10972	0.075	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51212	-0.8734	10	0.30078	T	0.28	-47.1796	10.6096	0.45415	0.1459:0.0:0.8541:0.0	.	123	P35558	PCKGC_HUMAN	D	123	ENSP00000319814:E123D	ENSP00000319814:E123D	E	+	3	2	PCK1	55570677	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.761000	0.62243	1.361000	0.45981	0.655000	0.94253	GAG	PCK1	-	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	ENSG00000124253		0.493	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK1	HGNC	protein_coding	OTTHUMT00000079851.2	56	0.00	0	G			56137271	56137271	+1	no_errors	ENST00000319441	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	T
PCLO	27445	genome.wustl.edu	37	7	82582551	82582552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:82582551_82582552insA	ENST00000333891.9	-	5	8054_8055	c.7717_7718insT	c.(7717-7719)tccfs	p.S2573fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.S2573fs|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGGATTTGGAAAATCTTGGT	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7718dupT	7.37:g.82582555_82582555dupA	ENSP00000334319:p.Ser2573fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S2573fs	ENST00000333891.9	37	c.7718_7717	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.421	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	166	0.00	0	-	NM_014510		82582551	82582552	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	frame_shift_ins	115	11.54	15	INS	1.000:0.994	A
PCLO	27445	genome.wustl.edu	37	7	82785335	82785335	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:82785335T>G	ENST00000333891.9	-	2	959	c.622A>C	c.(622-624)Aaa>Caa	p.K208Q	PCLO_ENST00000423517.2_Missense_Mutation_p.K208Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGGAGGTTTTATGATTCCT	0.463																																						dbGAP											0													139.0	130.0	133.0					7																	82785335		1907	4111	6018	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.622A>C	7.37:g.82785335T>G	ENSP00000334319:p.Lys208Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.K208Q	ENST00000333891.9	37	c.622	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841965	0.32513	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.33654	1.4;1.42	5.48	5.48	0.80851	.	.	.	.	.	T	0.42245	0.1194	L	0.36672	1.1	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.52217	0.693;0.693	T	0.38693	-0.9649	9	0.87932	D	0	.	15.5875	0.76495	0.0:0.0:0.0:1.0	.	208;208	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	208	ENSP00000334319:K208Q;ENSP00000388393:K208Q	ENSP00000334319:K208Q	K	-	1	0	PCLO	82623271	0.987000	0.35691	0.909000	0.35828	0.690000	0.40134	3.074000	0.50065	2.098000	0.63641	0.533000	0.62120	AAA	PCLO	-	NULL	ENSG00000186472		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	364	0.00	0	T	NM_014510		82785335	82785335	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	207	33.23	103	SNP	0.998	G
PCM1	5108	genome.wustl.edu	37	8	17808229	17808229	+	Missense_Mutation	SNP	C	C	A	rs377121178		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:17808229C>A	ENST00000519253.1	+	8	1318	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	PCM1_ENST00000518537.1_Missense_Mutation_p.S395Y|PCM1_ENST00000325083.8_Missense_Mutation_p.S356Y|PCM1_ENST00000524226.1_Missense_Mutation_p.S356Y			Q15154	PCM1_HUMAN	pericentriolar material 1	356					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CTTCGTGATTCTCAGGTAACC	0.358			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	dbGAP		Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													83.0	78.0	80.0					8																	17808229		1841	4086	5927	-	-	-	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1067C>A	8.37:g.17808229C>A	ENSP00000431099:p.Ser356Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.S356Y	ENST00000519253.1	37	c.1067		8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525970	0.85600	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.34667	3.34;2.48;1.69;1.35;3.34;3.1	5.59	4.7	0.59300	.	0.103410	0.64402	D	0.000002	T	0.57330	0.2046	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.996	D;D;D;D	0.80764	0.939;0.994;0.939;0.939	T	0.60890	-0.7173	10	0.59425	D	0.04	-5.9781	15.4581	0.75330	0.0:0.8605:0.1395:0.0	.	356;395;356;356	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	Y	356;395;395;395;356;356;356	ENSP00000327077:S356Y;ENSP00000428131:S395Y;ENSP00000428123:S395Y;ENSP00000429941:S356Y;ENSP00000431099:S356Y;ENSP00000430521:S356Y	ENSP00000327077:S356Y	S	+	2	0	PCM1	17852509	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.601000	0.67606	1.467000	0.48044	0.655000	0.94253	TCT	PCM1	-	NULL	ENSG00000078674		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	254	0.00	0	C	NM_006197		17808229	17808229	+1	no_errors	ENST00000325083	ensembl	human	known	69_37n	missense	182	14.15	30	SNP	1.000	A
PCMTD1	115294	genome.wustl.edu	37	8	52746175	52746175	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:52746175C>T	ENST00000360540.5	-	5	891	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R86Q|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R162Q	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R162Q(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ACAATAAATTCGATCATACTG	0.363																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											144.0	129.0	134.0					8																	52746175		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.485G>A	8.37:g.52746175C>T	ENSP00000353739:p.Arg162Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FK9	Missense_Mutation	SNP	pfam_PCMT	p.R162Q	ENST00000360540.5	37	c.485	CCDS6148.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836588|4.836588	0.91117|0.91117	.|.	.|.	ENSG00000168300|ENSG00000168300	ENST00000519554|ENST00000360540;ENST00000544451;ENST00000522514	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|0.124846	.|0.56097	.|D	.|0.000034	T|T	0.68118|0.68118	0.2966|0.2966	M|M	0.89534|0.89534	3.04|3.04	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;P;D	.|0.89917	.|0.998;0.998;0.545;1.0	.|D;D;B;D	.|0.97110	.|0.992;0.992;0.039;1.0	T|T	0.74200|0.74200	-0.3742|-0.3742	5|10	.|0.59425	.|D	.|0.04	-42.8563|-42.8563	12.0488|12.0488	0.53495|0.53495	0.0:0.8575:0.0:0.1425|0.0:0.8575:0.0:0.1425	.|.	.|79;32;86;162	.|Q658R8;B4E2B4;F5H1M8;Q96MG8	.|.;.;.;PCMD1_HUMAN	K|Q	54|162;86;162	.|ENSP00000353739:R162Q;ENSP00000444026:R86Q;ENSP00000428099:R162Q	.|ENSP00000353739:R162Q	E|R	-|-	1|2	0|0	PCMTD1|PCMTD1	52908728|52908728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	6.060000|6.060000	0.71141|0.71141	1.195000|1.195000	0.43115|0.43115	0.591000|0.591000	0.81541|0.81541	GAA|CGA	PCMTD1	-	pfam_PCMT	ENSG00000168300		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	250	0.00	0	C	NM_052937		52746175	52746175	-1	no_errors	ENST00000360540	ensembl	human	known	69_37n	missense	145	28.57	58	SNP	1.000	T
PCMTD1	115294	genome.wustl.edu	37	8	52773438	52773438	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:52773438C>T	ENST00000360540.5	-	3	680	c.274G>A	c.(274-276)Gga>Aga	p.G92R	PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000521344.1_Missense_Mutation_p.G92R|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Missense_Mutation_p.G92R	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	92						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CTTAAATATCCGGTTCCACTT	0.308																																						dbGAP											0													69.0	66.0	67.0					8																	52773438		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.274G>A	8.37:g.52773438C>T	ENSP00000353739:p.Gly92Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FK9	Missense_Mutation	SNP	pfam_PCMT	p.G92R	ENST00000360540.5	37	c.274	CCDS6148.1	8	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741247	0.89573	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.74106	-0.78;-0.78;-0.81	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.90280	0.6960	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92344	0.5884	10	0.87932	D	0	-41.9112	19.5164	0.95167	0.0:1.0:0.0:0.0	.	9;92	Q658R8;Q96MG8	.;PCMD1_HUMAN	R	92	ENSP00000353739:G92R;ENSP00000428099:G92R;ENSP00000430168:G92R	ENSP00000353739:G92R	G	-	1	0	PCMTD1	52935991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.354000	0.79424	2.682000	0.91365	0.585000	0.79938	GGA	PCMTD1	-	pfam_PCMT	ENSG00000168300		0.308	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	183	0.00	0	C	NM_052937		52773438	52773438	-1	no_errors	ENST00000360540	ensembl	human	known	69_37n	missense	102	28.17	40	SNP	1.000	T
PCMTD2	55251	genome.wustl.edu	37	20	62904723	62904723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:62904723C>T	ENST00000308824.6	+	6	983	c.856C>T	c.(856-858)Cga>Tga	p.R286*	PCMTD2_ENST00000266078.7_3'UTR|PCMTD2_ENST00000369758.4_Nonsense_Mutation_p.R259*|PCMTD2_ENST00000609372.1_Nonsense_Mutation_p.R136*|PCMTD2_ENST00000299468.7_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	286	Poly-Arg.					cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCGCCGCCGTCGAATGGAAAC	0.463																																						dbGAP											0													89.0	99.0	95.0					20																	62904723		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.856C>T	20.37:g.62904723C>T	ENSP00000307854:p.Arg286*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5H3|Q8IW60|Q9H4K2	Nonsense_Mutation	SNP	pfam_PCMT	p.R286*	ENST00000308824.6	37	c.856	CCDS13559.1	20	.	.	.	.	.	.	.	.	.	.	.	31	5.060267	0.93846	.	.	ENSG00000203880	ENST00000369758;ENST00000308824;ENST00000266078	.	.	.	5.41	3.34	0.38264	.	0.274606	0.39083	N	0.001471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4638	15.6397	0.76989	0.1698:0.8302:0.0:0.0	.	.	.	.	X	259;286;62	.	ENSP00000266078:R62X	R	+	1	2	PCMTD2	62375167	0.995000	0.38212	0.020000	0.16555	0.998000	0.95712	3.791000	0.55469	0.501000	0.28013	0.655000	0.94253	CGA	PCMTD2	-	NULL	ENSG00000203880		0.463	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	HGNC	protein_coding	OTTHUMT00000080301.1	232	0.00	0	C	NM_018257		62904723	62904723	+1	no_errors	ENST00000308824	ensembl	human	known	69_37n	nonsense	144	25.26	49	SNP	0.092	T
PCNT	5116	genome.wustl.edu	37	21	47786993	47786993	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:47786993G>A	ENST00000359568.5	+	15	3211	c.3104G>A	c.(3103-3105)cGa>cAa	p.R1035Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1035					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GACCACCTGCGAACCGAAGTG	0.597																																						dbGAP											0													60.0	63.0	62.0					21																	47786993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3104G>A	21.37:g.47786993G>A	ENSP00000352572:p.Arg1035Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.R1035Q	ENST00000359568.5	37	c.3104	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098883	0.37048	.	.	ENSG00000160299	ENST00000359568	T	0.01613	4.73	5.35	0.445	0.16597	.	0.699460	0.11753	N	0.532858	T	0.02571	0.0078	M	0.62723	1.935	0.09310	N	1	B;B	0.21905	0.062;0.005	B;B	0.17098	0.017;0.015	T	0.36016	-0.9765	10	0.42905	T	0.14	.	7.7215	0.28736	0.5005:0.0:0.4995:0.0	.	917;1035	O95613-2;O95613	.;PCNT_HUMAN	Q	1035	ENSP00000352572:R1035Q	ENSP00000352572:R1035Q	R	+	2	0	PCNT	46611421	0.304000	0.24472	0.000000	0.03702	0.000000	0.00434	0.483000	0.22292	0.267000	0.21916	-0.226000	0.12346	CGA	PCNT	-	NULL	ENSG00000160299		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	28	0.00	0	G	NM_006031		47786993	47786993	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.000	A
PCNT	5116	genome.wustl.edu	37	21	47851831	47851831	+	Missense_Mutation	SNP	C	C	A	rs200878443		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:47851831C>A	ENST00000359568.5	+	38	8560	c.8453C>A	c.(8452-8454)tCt>tAt	p.S2818Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2818					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCCCTGCATTCTCAGCAGCAG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		21902	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													61.0	57.0	58.0					21																	47851831		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8453C>A	21.37:g.47851831C>A	ENSP00000352572:p.Ser2818Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.S2818Y	ENST00000359568.5	37	c.8453	CCDS33592.1	21	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.93	2.681641	0.47991	.	.	ENSG00000160299	ENST00000359568	T	0.01572	4.76	4.71	2.77	0.32553	.	.	.	.	.	T	0.02888	0.0086	L	0.29908	0.895	0.09310	N	1	P;P	0.52316	0.924;0.952	P;P	0.51135	0.66;0.459	T	0.51060	-0.8753	9	0.46703	T	0.11	.	9.8563	0.41088	0.0:0.7797:0.1392:0.081	.	2700;2818	O95613-2;O95613	.;PCNT_HUMAN	Y	2818	ENSP00000352572:S2818Y	ENSP00000352572:S2818Y	S	+	2	0	PCNT	46676259	0.004000	0.15560	0.089000	0.20774	0.050000	0.14768	1.867000	0.39499	1.118000	0.41863	-0.140000	0.14226	TCT	PCNT	-	NULL	ENSG00000160299		0.587	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	85	0.00	0	C	NM_006031		47851831	47851831	+1	no_errors	ENST00000359568	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	0.206	A
PCNX	22990	genome.wustl.edu	37	14	71576678	71576678	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:71576678C>A	ENST00000304743.2	+	0	7498				PCNX_ENST00000439984.3_3'UTR|PCNX_ENST00000238570.5_3'UTR|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)							integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAAGACATTTCTTTTTCCCTC	0.408																																						dbGAP											0													97.0	96.0	96.0					14																	71576678		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.*26C>A	14.37:g.71576678C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	RNA	SNP	-	NULL	ENST00000304743.2	37	NULL	CCDS9806.1	14																																																																																			PCNX	-	-	ENSG00000100731		0.408	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	170	0.00	0	C	NM_014982		71576678	71576678	+1	no_errors	ENST00000556272	ensembl	human	known	69_37n	rna	134	12.34	19	SNP	0.870	A
PCNXL2	80003	genome.wustl.edu	37	1	233134180	233134180	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:233134180G>A	ENST00000258229.9	-	32	5842	c.5608C>T	c.(5608-5610)Cgg>Tgg	p.R1870W	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522W	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1870						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CAATCCTTCCGCATCCTGTGG	0.582																																						dbGAP											0													46.0	46.0	46.0					1																	233134180		1978	4168	6146	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5608C>T	1.37:g.233134180G>A	ENSP00000258229:p.Arg1870Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.R1870W	ENST00000258229.9	37	c.5608	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972505	0.74246	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.28666	1.6;2.73	5.65	3.72	0.42706	.	0.106968	0.64402	D	0.000009	T	0.52805	0.1757	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.56294	-0.8003	10	0.87932	D	0	.	13.801	0.63199	0.0:0.0:0.5849:0.4151	.	1870;522	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	W	522;1870	ENSP00000340759:R522W;ENSP00000258229:R1870W	ENSP00000258229:R1870W	R	-	1	2	PCNXL2	231200803	1.000000	0.71417	0.977000	0.42913	0.652000	0.38707	1.963000	0.40452	0.798000	0.33994	0.563000	0.77884	CGG	PCNXL2	-	NULL	ENSG00000135749		0.582	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	73	0.00	0	G	NM_014801		233134180	233134180	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	44	35.29	24	SNP	1.000	A
PCNXL3	399909	genome.wustl.edu	37	11	65403971	65403971	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65403971G>A	ENST00000355703.3	+	34	6242	c.5703G>A	c.(5701-5703)cgG>cgA	p.R1901R	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1901	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTCCCCCTCGGCTCCCTGGAC	0.721																																						dbGAP											0													17.0	21.0	20.0					11																	65403971		1891	4098	5989	-	-	-	SO:0001819	synonymous_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5703G>A	11.37:g.65403971G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Silent	SNP	pfam_Pecanex	p.R1901	ENST00000355703.3	37	c.5703	CCDS44650.1	11																																																																																			PCNXL3	-	NULL	ENSG00000197136		0.721	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	20	0.00	0	G	NM_032223		65403971	65403971	+1	no_errors	ENST00000355703	ensembl	human	known	69_37n	silent	7	30.00	3	SNP	0.997	A
PCNXL4	64430	genome.wustl.edu	37	14	60581791	60581791	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60581791C>T	ENST00000406854.1	+	4	1523	c.969C>T	c.(967-969)ttC>ttT	p.F323F	PCNXL4_ENST00000404681.2_Silent_p.F323F|PCNXL4_ENST00000317623.4_Silent_p.F89F|PCNXL4_ENST00000406949.1_Silent_p.F89F			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	323						integral component of membrane (GO:0016021)											GATTTGGTTTCTTGCTGAGTC	0.393																																						dbGAP											0													111.0	96.0	100.0					14																	60581791		1862	4100	5962	-	-	-	SO:0001819	synonymous_variant	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.969C>T	14.37:g.60581791C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM2|Q9BQG8|Q9H9F2	Silent	SNP	pfam_Pecanex	p.F323	ENST00000406854.1	37	c.969		14																																																																																			PCNXL4	-	NULL	ENSG00000126773		0.393	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	210	0.00	0	C	NM_022495		60581791	60581791	+1	no_errors	ENST00000404681	ensembl	human	known	69_37n	silent	123	28.49	49	SNP	1.000	T
PCSK5	5125	genome.wustl.edu	37	9	78790193	78790193	+	Intron	SNP	G	G	A	rs368601327	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:78790193G>A	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.R683Q	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatcgaatcgaatcg	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+148G>A	9.37:g.78790193G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R683Q	ENST00000545128.1	37	c.2048	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	g	3.623	-0.077147	0.07184	.	.	ENSG00000099139	ENST00000376767	T	0.68181	-0.31	.	.	.	.	.	.	.	.	T	0.42698	0.1214	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.17776	-1.0358	7	0.22109	T	0.4	.	2.6487	0.04992	0.5:0.0:0.5:0.0	.	683	B1AMG5	.	Q	683	ENSP00000365958:R683Q	ENSP00000365958:R683Q	R	+	2	0	PCSK5	77980013	0.000000	0.05858	0.071000	0.20095	0.073000	0.16967	-0.128000	0.10531	-0.000000	0.14550	0.000000	0.15137	CGA	PCSK5	-	NULL	ENSG00000099139		0.368	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		40	0.00	0	G			78790193	78790193	+1	no_errors	ENST00000376767	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.005	A
PCSK5	5125	genome.wustl.edu	37	9	78790202	78790202	+	Intron	SNP	C	C	T	rs375090801		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:78790202C>T	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.S686L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatcgaata	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+157C>T	9.37:g.78790202C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.S686L	ENST00000545128.1	37	c.2057	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	N	1.108	-0.658969	0.03454	.	.	ENSG00000099139	ENST00000376767	T	0.69435	-0.4	.	.	.	.	.	.	.	.	T	0.48205	0.1487	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.31138	-0.9954	7	0.87932	D	0	.	4.0395	0.09745	0.3925:0.6075:0.0:0.0	.	686	B1AMG5	.	L	686	ENSP00000365958:S686L	ENSP00000365958:S686L	S	+	2	0	PCSK5	77980022	0.000000	0.05858	0.016000	0.15963	0.019000	0.09904	-3.214000	0.00555	-2.375000	0.00598	-2.399000	0.00225	TCG	PCSK5	-	NULL	ENSG00000099139		0.343	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		37	0.00	0	C			78790202	78790202	+1	no_errors	ENST00000376767	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.001	T
PCYT1B	9468	genome.wustl.edu	37	X	24608144	24608144	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:24608144T>C	ENST00000379144.2	-	4	612	c.482A>G	c.(481-483)cAc>cGc	p.H161R	PCYT1B_ENST00000356768.4_Missense_Mutation_p.H161R|PCYT1B_ENST00000379145.1_Missense_Mutation_p.H143R	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	161					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	AAGTACCTTGTGTTTTTCCAG	0.468																																						dbGAP											0													136.0	108.0	117.0					X																	24608144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.482A>G	X.37:g.24608144T>C	ENSP00000368439:p.His161Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel	p.H161R	ENST00000379144.2	37	c.482	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438571	0.83885	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96554	-4.05;-4.05;-4.05	5.44	5.44	0.79542	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.88377	2.95	0.80722	D	1	D;D;D	0.59767	0.986;0.976;0.976	P;P;P	0.52343	0.647;0.696;0.696	D	0.98080	1.0403	10	0.87932	D	0	-0.4235	14.5606	0.68133	0.0:0.0:0.0:1.0	.	161;143;161	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	R	143;161;161	ENSP00000368440:H143R;ENSP00000368439:H161R;ENSP00000349211:H161R	ENSP00000349211:H161R	H	-	2	0	PCYT1B	24518065	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	2.015000	0.59207	0.486000	0.48141	CAC	PCYT1B	-	pfam_Cytidylyltransf	ENSG00000102230		0.468	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	407	0.00	0	T	NM_004845		24608144	24608144	-1	no_errors	ENST00000379144	ensembl	human	known	69_37n	missense	321	17.35	68	SNP	1.000	C
PDCL2	132954	genome.wustl.edu	37	4	56422836	56422836	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:56422836T>A	ENST00000295645.4	-	6	716	c.614A>T	c.(613-615)gAt>gTt	p.D205V		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	205	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTCTTCCAAATCAGTCTGTAT	0.323																																						dbGAP											0													105.0	93.0	97.0					4																	56422836		1839	4080	5919	-	-	-	SO:0001583	missense	0			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.614A>T	4.37:g.56422836T>A	ENSP00000295645:p.Asp205Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWA2|B9ZVQ9	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	p.D205V	ENST00000295645.4	37	c.614	CCDS47059.1	4	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914001	0.72983	.	.	ENSG00000163440	ENST00000295645	T	0.36157	1.27	5.81	4.63	0.57726	Thioredoxin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.58892	0.2154	M	0.83312	2.635	0.80722	D	1	D	0.56035	0.974	P	0.61201	0.885	T	0.63945	-0.6522	10	0.72032	D	0.01	-16.8964	12.1424	0.54005	0.1285:0.0:0.0:0.8715	.	205	Q8N4E4	PDCL2_HUMAN	V	205	ENSP00000295645:D205V	ENSP00000295645:D205V	D	-	2	0	PDCL2	56117593	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.368000	0.66133	1.017000	0.39495	-0.309000	0.09137	GAT	PDCL2	-	superfamily_Thioredoxin-like_fold	ENSG00000163440		0.323	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL2	HGNC	protein_coding	OTTHUMT00000361659.1	129	0.00	0	T	NM_152401		56422836	56422836	-1	no_errors	ENST00000295645	ensembl	human	known	69_37n	missense	153	17.30	32	SNP	1.000	A
PDE11A	50940	genome.wustl.edu	37	2	178936539	178936539	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:178936539A>C	ENST00000286063.6	-	1	943	c.626T>G	c.(625-627)gTc>gGc	p.V209G	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	209					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GATATCTTTGACCAATTCCAG	0.478									Primary Pigmented Nodular Adrenocortical Disease, Familial																													dbGAP											0													125.0	108.0	114.0					2																	178936539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.626T>G	2.37:g.178936539A>C	ENSP00000286063:p.Val209Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.V209G	ENST00000286063.6	37	c.626	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.031426	0.75504	.	.	ENSG00000128655	ENST00000286063	T	0.69306	-0.39	5.28	5.28	0.74379	.	0.110934	0.64402	D	0.000010	D	0.82458	0.5041	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85468	0.1171	10	0.87932	D	0	.	14.3791	0.66900	1.0:0.0:0.0:0.0	.	209	Q9HCR9	PDE11_HUMAN	G	209	ENSP00000286063:V209G	ENSP00000286063:V209G	V	-	2	0	PDE11A	178644785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.853000	0.92222	2.001000	0.58596	0.533000	0.62120	GTC	PDE11A	-	NULL	ENSG00000128655		0.478	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	119	0.00	0	A			178936539	178936539	-1	no_errors	ENST00000286063	ensembl	human	known	69_37n	missense	87	10.31	10	SNP	1.000	C
PDE1A	5136	genome.wustl.edu	37	2	183051295	183051295	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:183051295C>T	ENST00000410103.1	-	13	1359	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PDE1A_ENST00000358139.2_Missense_Mutation_p.E426K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E392K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E426K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E322K|PDE1A_ENST00000435564.1_Missense_Mutation_p.E426K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E410K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E426K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E410K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	426	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AATGTTGGCTCTACTATGAAA	0.358																																						dbGAP											0													56.0	58.0	57.0					2																	183051295		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1276G>A	2.37:g.183051295C>T	ENSP00000387037:p.Glu426Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E426K	ENST00000410103.1	37	c.1276	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760282	0.69763	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.57	4.69	0.59074	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.103077	0.64402	D	0.000003	T	0.71643	0.3364	N	0.21617	0.685	0.80722	D	1	B;B;B;B;B	0.32620	0.046;0.378;0.01;0.282;0.037	B;B;B;B;B	0.36244	0.168;0.169;0.029;0.22;0.104	T	0.72080	-0.4398	10	0.48119	T	0.1	.	13.9138	0.63883	0.0:0.9268:0.0:0.0732	.	322;392;426;410;426	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	426;392;322;410;426;410;426;426;426	ENSP00000410309:E426K;ENSP00000329112:E392K;ENSP00000439938:E322K;ENSP00000386767:E410K;ENSP00000331574:E426K;ENSP00000309269:E410K;ENSP00000387037:E426K;ENSP00000350858:E426K;ENSP00000408874:E426K	ENSP00000331574:E426K	E	-	1	0	PDE1A	182759540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.449000	0.66619	1.502000	0.48669	0.655000	0.94253	GAG	PDE1A	-	pfam_PDEase_catalytic_dom	ENSG00000115252		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	242	0.00	0	C			183051295	183051295	-1	no_errors	ENST00000456212	ensembl	human	known	69_37n	missense	114	15.56	21	SNP	1.000	T
PDE1B	5153	genome.wustl.edu	37	12	54943746	54943746	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54943746G>T	ENST00000243052.3	+	2	526	c.90G>T	c.(88-90)aaG>aaT	p.K30N	PDE1B_ENST00000538346.1_5'Flank	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	30	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCAGCAAGAAGATGTGGATTA	0.637																																						dbGAP											0													52.0	49.0	50.0					12																	54943746		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.90G>T	12.37:g.54943746G>T	ENSP00000243052:p.Lys30Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.K30N	ENST00000243052.3	37	c.90	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969285	0.53614	.	.	ENSG00000123360	ENST00000243052	T	0.70282	-0.47	4.33	0.198	0.15168	.	0.290393	0.31427	N	0.007668	T	0.55130	0.1901	L	0.39898	1.24	0.80722	D	1	P	0.43352	0.804	B	0.38106	0.265	T	0.52155	-0.8613	10	0.87932	D	0	.	7.141	0.25556	0.4114:0.0:0.5886:0.0	.	30	Q01064	PDE1B_HUMAN	N	30	ENSP00000243052:K30N	ENSP00000243052:K30N	K	+	3	2	PDE1B	53230013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.253000	0.32886	0.098000	0.17522	0.561000	0.74099	AAG	PDE1B	-	NULL	ENSG00000123360		0.637	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	175	0.00	0	G			54943746	54943746	+1	no_errors	ENST00000243052	ensembl	human	known	69_37n	missense	127	13.61	20	SNP	0.998	T
PDE1C	5137	genome.wustl.edu	37	7	31887625	31887625	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:31887625C>T	ENST00000396191.1	-	9	1392	c.937G>A	c.(937-939)Gag>Aag	p.E313K	PDE1C_ENST00000396193.1_Missense_Mutation_p.E373K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E313K|PDE1C_ENST00000396184.3_Missense_Mutation_p.E313K|PDE1C_ENST00000321453.7_Missense_Mutation_p.E313K	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	313	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TTCATTTCCTCGTCATCTTGC	0.413																																						dbGAP											0													112.0	103.0	106.0					7																	31887625		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.937G>A	7.37:g.31887625C>T	ENSP00000379494:p.Glu313Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.E313K	ENST00000396191.1	37	c.937	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983799	0.93044	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	6.06	6.06	0.98353	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044760	0.85682	D	0.000000	D	0.88024	0.6326	L	0.36672	1.1	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.997	P;D;P	0.71870	0.871;0.975;0.856	D	0.87931	0.2710	10	0.66056	D	0.02	.	20.2348	0.98355	0.0:1.0:0.0:0.0	.	313;373;313	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	K	373;313;313;313;313	ENSP00000379496:E373K;ENSP00000379494:E313K;ENSP00000318105:E313K;ENSP00000379487:E313K;ENSP00000379485:E313K	ENSP00000318105:E313K	E	-	1	0	PDE1C	31854150	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAG	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000154678		0.413	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	207	0.00	0	C			31887625	31887625	-1	no_errors	ENST00000321453	ensembl	human	known	69_37n	missense	141	25.00	47	SNP	1.000	T
PDE3A	5139	genome.wustl.edu	37	12	20790046	20790046	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:20790046C>A	ENST00000359062.3	+	9	2054	c.2014C>A	c.(2014-2016)Ctt>Att	p.L672I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	672					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CAAACCAATTCTTGCTCCCGA	0.348																																						dbGAP											0													86.0	80.0	82.0					12																	20790046		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2014C>A	12.37:g.20790046C>A	ENSP00000351957:p.Leu672Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L672I	ENST00000359062.3	37	c.2014	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434356	0.62955	.	.	ENSG00000172572	ENST00000359062	T	0.63580	-0.05	4.79	4.79	0.61399	.	25.489800	0.00166	N	0.000000	T	0.71592	0.3358	L	0.29908	0.895	0.40587	D	0.981454	D	0.63880	0.993	P	0.58130	0.833	T	0.60515	-0.7248	10	0.28530	T	0.3	.	18.0307	0.89283	0.0:1.0:0.0:0.0	.	672	Q14432	PDE3A_HUMAN	I	672	ENSP00000351957:L672I	ENSP00000351957:L672I	L	+	1	0	PDE3A	20681313	0.992000	0.36948	1.000000	0.80357	0.974000	0.67602	1.469000	0.35343	2.487000	0.83934	0.591000	0.81541	CTT	PDE3A	-	NULL	ENSG00000172572		0.348	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	175	0.00	0	C			20790046	20790046	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	93	27.91	36	SNP	1.000	A
PDE4B	5142	genome.wustl.edu	37	1	66827392	66827392	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:66827392G>T	ENST00000329654.4	+	10	1123	c.936G>T	c.(934-936)aaG>aaT	p.K312N	PDE4B_ENST00000480109.2_Missense_Mutation_p.K79N|PDE4B_ENST00000371049.3_Missense_Mutation_p.K312N|PDE4B_ENST00000423207.2_Missense_Mutation_p.K297N|PDE4B_ENST00000371045.5_Missense_Mutation_p.K140N	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	312					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GTGGAGTGAAGAAATTAATGC	0.433																																						dbGAP											0													172.0	148.0	157.0					1																	66827392		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.936G>T	1.37:g.66827392G>T	ENSP00000332116:p.Lys312Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.K312N	ENST00000329654.4	37	c.936	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793125	0.50102	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000528771;ENST00000371045;ENST00000531025;ENST00000526197;ENST00000480109	T;T;T;T;T;T;T;T;T	0.71817	-0.59;-0.59;-0.59;-0.6;1.03;-0.3;1.03;1.03;-0.29	5.96	-2.04	0.07343	.	0.296273	0.41938	D	0.000800	T	0.78735	0.4330	M	0.87456	2.885	0.58432	D	0.999993	B;D;D;D;D	0.69078	0.042;0.997;0.988;0.996;0.975	B;D;P;P;P	0.66497	0.058;0.944;0.821;0.821;0.821	D	0.84506	0.0619	10	0.72032	D	0.01	.	15.1744	0.72899	0.3486:0.0:0.6514:0.0	.	79;297;182;302;312	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	N	312;312;312;297;93;140;93;93;79	ENSP00000332116:K312N;ENSP00000342637:K312N;ENSP00000360088:K312N;ENSP00000392947:K297N;ENSP00000431909:K93N;ENSP00000360084:K140N;ENSP00000437249:K93N;ENSP00000436104:K93N;ENSP00000432592:K79N	ENSP00000332116:K312N	K	+	3	2	PDE4B	66599980	0.996000	0.38824	0.996000	0.52242	0.305000	0.27757	0.454000	0.21827	-0.118000	0.11851	-0.793000	0.03317	AAG	PDE4B	-	NULL	ENSG00000184588		0.433	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	294	0.00	0	G	NM_002600		66827392	66827392	+1	no_errors	ENST00000329654	ensembl	human	known	69_37n	missense	168	14.29	28	SNP	0.983	T
PDE4D	5144	genome.wustl.edu	37	5	58270587	58270587	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:58270587A>G	ENST00000340635.6	-	15	2509	c.2334T>C	c.(2332-2334)atT>atC	p.I778I	PDE4D_ENST00000503258.1_Silent_p.I648I|PDE4D_ENST00000546160.1_Silent_p.I717I|PDE4D_ENST00000317118.8_Silent_p.I487I|PDE4D_ENST00000507116.1_Silent_p.I714I|PDE4D_ENST00000360047.5_Silent_p.I642I|PDE4D_ENST00000502484.2_Silent_p.I717I|PDE4D_ENST00000405755.2_Silent_p.I656I|PDE4D_ENST00000358923.6_Silent_p.I476I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	778					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CATCAAGGGGAATTTCAGTAG	0.483																																						dbGAP											0													239.0	238.0	239.0					5																	58270587		1942	4150	6092	-	-	-	SO:0001819	synonymous_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2334T>C	5.37:g.58270587A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.I778	ENST00000340635.6	37	c.2334	CCDS47213.1	5																																																																																			PDE4D	-	NULL	ENSG00000113448		0.483	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	217	0.00	0	A			58270587	58270587	-1	no_errors	ENST00000340635	ensembl	human	known	69_37n	silent	140	15.15	25	SNP	0.885	G
PDE4DIP	9659	genome.wustl.edu	37	1	144922635	144922635	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:144922635G>T	ENST00000369354.3	-	7	961	c.772C>A	c.(772-774)Ctt>Att	p.L258I	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L258I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L395I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L45I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L258I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L324I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L421I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L395I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L421I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L258I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	258					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTCTTGAAGAATCTGAATT	0.343			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													210.0	223.0	219.0					1																	144922635		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.772C>A	1.37:g.144922635G>T	ENSP00000358360:p.Leu258Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L258I	ENST00000369354.3	37	c.772	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950106	0.73787	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.33654	3.76;3.26;3.22;3.97;3.95;2.36;2.38;1.46;1.5;1.4	5.96	4.07	0.47477	.	.	.	.	.	T	0.48892	0.1525	M	0.70275	2.135	0.80722	D	1	D;D;D;D;P	0.76494	0.99;0.999;0.996;0.995;0.892	P;D;D;P;B	0.75484	0.896;0.986;0.932;0.879;0.341	T	0.47923	-0.9079	9	0.87932	D	0	.	11.1927	0.48693	0.1293:0.0:0.8707:0.0	.	421;258;421;324;258	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	I	324;258;258;421;395;395;258;258;421;421;45	ENSP00000327209:L324I;ENSP00000358360:L258I;ENSP00000358363:L258I;ENSP00000435654:L395I;ENSP00000358366:L395I;ENSP00000358357:L258I;ENSP00000358355:L258I;ENSP00000316434:L421I;ENSP00000433392:L421I;ENSP00000436791:L45I	ENSP00000327209:L324I	L	-	1	0	PDE4DIP	143633992	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.120000	0.41968	2.825000	0.97269	0.650000	0.86243	CTT	PDE4DIP	-	NULL	ENSG00000178104		0.343	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	278	0.00	0	G	NM_022359		144922635	144922635	-1	no_errors	ENST00000369356	ensembl	human	known	69_37n	missense	144	28.36	57	SNP	1.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	145075825	145075825	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:145075825C>T	ENST00000530740.1	-	1	76	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R13Q|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R13Q|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R13Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0			N -> S (in dbSNP:rs3010980).		cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAAGTCGCATCGGCGGCGGCA	0.662			T	PDGFRB	MPD																																	dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													41.0	50.0	47.0					1																	145075825		2176	4265	6441	-	-	-	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.38G>A	1.37:g.145075825C>T	ENSP00000435654:p.Arg13Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc	p.R13Q	ENST00000530740.1	37	c.38		1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322327	0.41096	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.16196	3.68;3.65;2.36	1.8	0.863	0.19062	.	.	.	.	.	T	0.03095	0.0091	N	0.19112	0.55	0.19300	N	0.999977	B;B	0.18863	0.031;0.013	B;B	0.08055	0.003;0.001	T	0.42137	-0.9469	9	0.87932	D	0	.	4.3759	0.11270	0.0:0.7936:0.0:0.2064	.	13;13	Q5TB27;E9PJ64	.;.	Q	13	ENSP00000435654:R13Q;ENSP00000358366:R13Q;ENSP00000358354:R13Q	ENSP00000358351:R13Q	R	-	2	0	PDE4DIP	143787182	0.000000	0.05858	0.507000	0.27676	0.301000	0.27625	-0.990000	0.03732	0.315000	0.23110	-0.409000	0.06214	CGA	PDE4DIP	-	NULL	ENSG00000178104		0.662	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000384663.2	135	0.00	0	C	NM_022359		145075825	145075825	-1	no_errors	ENST00000369348	ensembl	human	known	69_37n	missense	55	11.29	7	SNP	0.531	T
PDE5A	8654	genome.wustl.edu	37	4	120463721	120463721	+	Missense_Mutation	SNP	C	C	T	rs200355800		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:120463721C>T	ENST00000354960.3	-	10	1784	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_ENST00000264805.5_Missense_Mutation_p.E447K|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.E437K|PDE5A_ENST00000512739.1_5'UTR	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	489	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438																																						dbGAP											0													137.0	129.0	131.0					4																	120463721		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1465G>A	4.37:g.120463721C>T	ENSP00000347046:p.Glu489Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E489K	ENST00000354960.3	37	c.1465	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.454552	0.96223	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.68624	-0.34;-0.34;-0.34	5.37	5.37	0.77165	GAF (2);	0.050029	0.85682	N	0.000000	D	0.83326	0.5230	M	0.89095	3.005	0.80722	D	1	P;D	0.69078	0.949;0.997	P;P	0.59643	0.529;0.861	D	0.85834	0.1393	10	0.59425	D	0.04	.	19.4801	0.95007	0.0:1.0:0.0:0.0	.	489;447	O76074;O76074-2	PDE5A_HUMAN;.	K	489;437;447	ENSP00000347046:E489K;ENSP00000377957:E437K;ENSP00000264805:E447K	ENSP00000264805:E447K	E	-	1	0	PDE5A	120683169	1.000000	0.71417	0.905000	0.35620	0.991000	0.79684	7.758000	0.85224	2.698000	0.92095	0.650000	0.86243	GAA	PDE5A	-	pfam_GAF,smart_GAF	ENSG00000138735		0.438	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	529	0.00	0	C	NM_001083		120463721	120463721	-1	no_errors	ENST00000354960	ensembl	human	known	69_37n	missense	335	15.19	60	SNP	1.000	T
PDE5A	8654	genome.wustl.edu	37	4	120484077	120484077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:120484077C>A	ENST00000354960.3	-	6	1361	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	PDE5A_ENST00000264805.5_Nonsense_Mutation_p.E306*|PDE5A_ENST00000394439.1_Nonsense_Mutation_p.E296*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	348	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAAATTACTTCTAATGATTGT	0.328																																						dbGAP											0													58.0	63.0	61.0					4																	120484077		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1042G>T	4.37:g.120484077C>A	ENSP00000347046:p.Glu348*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E348*	ENST00000354960.3	37	c.1042	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	42	9.195211	0.99096	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	.	.	.	5.31	5.31	0.75309	.	0.152743	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9482	0.92630	0.0:1.0:0.0:0.0	.	.	.	.	X	348;296;306	.	ENSP00000264805:E306X	E	-	1	0	PDE5A	120703525	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.470000	0.66756	2.641000	0.89580	0.655000	0.94253	GAA	PDE5A	-	pfam_GAF,smart_GAF	ENSG00000138735		0.328	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	122	0.00	0	C	NM_001083		120484077	120484077	-1	no_errors	ENST00000354960	ensembl	human	known	69_37n	nonsense	57	16.18	11	SNP	1.000	A
PDE8B	8622	genome.wustl.edu	37	5	76621421	76621421	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:76621421G>A	ENST00000264917.5	+	3	502	c.457G>A	c.(457-459)Gac>Aac	p.D153N	PDE8B_ENST00000340978.3_Missense_Mutation_p.D153N|PDE8B_ENST00000333194.4_Missense_Mutation_p.D153N|PDE8B_ENST00000342343.4_Missense_Mutation_p.D133N|PDE8B_ENST00000346042.3_Missense_Mutation_p.D153N	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	153					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GTGGGCCTGCGACAGAGCTGG	0.413																																						dbGAP											0													139.0	143.0	142.0					5																	76621421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.457G>A	5.37:g.76621421G>A	ENSP00000264917:p.Asp153Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,prints_PDEase,pfscan_PAS,tigrfam_PAS	p.D153N	ENST00000264917.5	37	c.457	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.422056	0.96111	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000502945	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.79	4.92	0.64577	Signal transduction response regulator, receiver domain (1);	0.291406	0.41097	N	0.000942	T	0.58308	0.2113	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.997;0.995;0.996	D;P;D;P;D	0.67382	0.951;0.856;0.918;0.882;0.928	T	0.60637	-0.7224	10	0.56958	D	0.05	.	14.8145	0.70020	0.0692:0.0:0.9308:0.0	.	153;153;153;133;153	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	N	29;153;153;153;133;153;29	ENSP00000425720:D29N;ENSP00000345446:D153N;ENSP00000330428:D153N;ENSP00000264917:D153N;ENSP00000345646:D133N;ENSP00000331336:D153N;ENSP00000426200:D29N	ENSP00000264917:D153N	D	+	1	0	PDE8B	76657177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.641000	0.83368	1.451000	0.47736	0.650000	0.86243	GAC	PDE8B	-	pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily	ENSG00000113231		0.413	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	169	0.00	0	G	NM_003719		76621421	76621421	+1	no_errors	ENST00000264917	ensembl	human	known	69_37n	missense	133	17.39	28	SNP	1.000	A
PDE6A	5145	genome.wustl.edu	37	5	149275996	149275996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:149275996C>A	ENST00000255266.5	-	12	1662	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	515					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGCTCCAGTTCTGTTAGGGGT	0.373																																						dbGAP											0													112.0	111.0	111.0					5																	149275996		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1543G>T	5.37:g.149275996C>A	ENSP00000255266:p.Glu515*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P638	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E515*	ENST00000255266.5	37	c.1543	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.088674	0.98055	.	.	ENSG00000132915	ENST00000255266	.	.	.	5.33	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.0769	0.53649	0.0:0.9159:0.0:0.0841	.	.	.	.	X	515	.	ENSP00000255266:E515X	E	-	1	0	PDE6A	149256189	1.000000	0.71417	0.666000	0.29783	0.694000	0.40290	7.427000	0.80284	1.391000	0.46566	-0.136000	0.14681	GAA	PDE6A	-	NULL	ENSG00000132915		0.373	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	258	0.00	0	C			149275996	149275996	-1	no_errors	ENST00000255266	ensembl	human	known	69_37n	nonsense	166	12.17	23	SNP	0.994	A
PDGFRA	5156	genome.wustl.edu	37	4	55129883	55129883	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:55129883C>T	ENST00000257290.5	+	4	748	c.417C>T	c.(415-417)atC>atT	p.I139I	PDGFRA_ENST00000508170.1_Silent_p.I139I|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	139	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATTTAGTCATCGTGGAGGATG	0.433			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	dbGAP		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													170.0	146.0	154.0					4																	55129883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.417C>T	4.37:g.55129883C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.I139	ENST00000257290.5	37	c.417	CCDS3495.1	4																																																																																			PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub	ENSG00000134853		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	146	0.00	0	C	NM_006206		55129883	55129883	+1	no_errors	ENST00000257290	ensembl	human	known	69_37n	silent	116	19.31	28	SNP	0.001	T
PDGFRB	5159	genome.wustl.edu	37	5	149501461	149501461	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:149501461C>T	ENST00000261799.4	-	16	2795	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	776	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTAGTTATCGTAAGGGGCC	0.517			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	dbGAP		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													301.0	233.0	256.0					5																	149501461		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2326G>A	5.37:g.149501461C>T	ENSP00000261799:p.Asp776Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D776N	ENST00000261799.4	37	c.2326	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470064	0.63625	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75589	-0.95	5.12	5.12	0.69794	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000094	T	0.72867	0.3514	N	0.20574	0.59	0.48288	D	0.999624	P;D	0.69078	0.948;0.997	B;P	0.53954	0.369;0.738	T	0.75886	-0.3159	10	0.48119	T	0.1	.	18.5512	0.91065	0.0:1.0:0.0:0.0	.	776;776	A8KAM8;P09619	.;PGFRB_HUMAN	N	776;446	ENSP00000261799:D776N	ENSP00000261799:D776N	D	-	1	0	PDGFRB	149481654	1.000000	0.71417	0.953000	0.39169	0.197000	0.23852	5.797000	0.69087	2.382000	0.81193	0.484000	0.47621	GAT	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000113721		0.517	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	202	0.00	0	C	NM_002609		149501461	149501461	-1	no_errors	ENST00000261799	ensembl	human	known	69_37n	missense	84	28.81	34	SNP	1.000	T
PDHX	8050	genome.wustl.edu	37	11	35016492	35016492	+	Nonsense_Mutation	SNP	G	G	T	rs371811647		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:35016492G>T	ENST00000227868.4	+	11	1363	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	PDHX_ENST00000448838.3_Nonsense_Mutation_p.E412*|PDHX_ENST00000430469.2_Nonsense_Mutation_p.E200*|PDHX_ENST00000477173.3_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	427					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)	p.E427K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGGCATCGACGAATTTACTGC	0.488																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											119.0	119.0	119.0					11																	35016492		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.1279G>T	11.37:g.35016492G>T	ENSP00000227868:p.Glu427*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Nonsense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.E427*	ENST00000227868.4	37	c.1279	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925962	0.73327	.	.	ENSG00000110435	ENST00000448838;ENST00000227868;ENST00000430469	.	.	.	6.04	6.04	0.98038	.	0.139301	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-32.1738	19.583	0.95478	0.0:0.0:1.0:0.0	.	.	.	.	X	412;427;200	.	ENSP00000227868:E427X	E	+	1	0	PDHX	34973068	1.000000	0.71417	0.964000	0.40570	0.622000	0.37654	6.457000	0.73505	2.873000	0.98535	0.563000	0.77884	GAA	PDHX	-	pfam_2-oxoacid_DH_actylTfrase	ENSG00000110435		0.488	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	133	0.00	0	G	NM_003477		35016492	35016492	+1	no_errors	ENST00000227868	ensembl	human	known	69_37n	nonsense	110	18.52	25	SNP	1.000	T
PDIA4	9601	genome.wustl.edu	37	7	148700920	148700920	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:148700920G>A	ENST00000286091.4	-	10	2136	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	635	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CAGTTTTGTGGCATGTTCTTC	0.542																																						dbGAP											0													86.0	78.0	81.0					7																	148700920		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1904C>T	7.37:g.148700920G>A	ENSP00000286091:p.Ala635Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.A635V	ENST00000286091.4	37	c.1904	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436650	0.43224	.	.	ENSG00000155660	ENST00000286091	T	0.21031	2.03	5.81	0.182	0.15077	Thioredoxin-like fold (3);	0.756584	0.12665	N	0.449260	T	0.19327	0.0464	L	0.52126	1.63	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.26430	-1.0103	10	0.72032	D	0.01	.	9.1829	0.37152	0.1859:0.3053:0.5089:0.0	.	635	P13667	PDIA4_HUMAN	V	635	ENSP00000286091:A635V	ENSP00000286091:A635V	A	-	2	0	PDIA4	148331853	0.979000	0.34478	0.000000	0.03702	0.993000	0.82548	1.286000	0.33273	0.068000	0.16574	0.555000	0.69702	GCC	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.542	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	58	0.00	0	G	NM_004911		148700920	148700920	-1	no_errors	ENST00000286091	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.003	A
PDIA4	9601	genome.wustl.edu	37	7	148701072	148701072	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:148701072G>T	ENST00000286091.4	-	10	1984	c.1752C>A	c.(1750-1752)gaC>gaA	p.D584E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	584	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGGCAGTGGCGTCCATCTTGG	0.587																																						dbGAP											0													110.0	108.0	109.0					7																	148701072		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1752C>A	7.37:g.148701072G>T	ENSP00000286091:p.Asp584Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.D584E	ENST00000286091.4	37	c.1752	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127528	0.56721	.	.	ENSG00000155660	ENST00000286091	T	0.34859	1.34	5.81	-3.17	0.05202	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.93016	3.37	0.58432	D	0.999998	P	0.51351	0.944	D	0.68765	0.96	T	0.71020	-0.4713	10	0.62326	D	0.03	.	13.8678	0.63598	0.7214:0.0:0.2786:0.0	.	584	P13667	PDIA4_HUMAN	E	584	ENSP00000286091:D584E	ENSP00000286091:D584E	D	-	3	2	PDIA4	148332005	0.855000	0.29742	0.977000	0.42913	0.374000	0.29953	0.000000	0.12993	-0.505000	0.06568	-1.030000	0.02411	GAC	PDIA4	-	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000155660		0.587	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	119	0.00	0	G	NM_004911		148701072	148701072	-1	no_errors	ENST00000286091	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	0.934	T
PDIA4	9601	genome.wustl.edu	37	7	148712057	148712057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:148712057C>A	ENST00000286091.4	-	4	785	c.553G>T	c.(553-555)Gag>Tag	p.E185*		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	185	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TCAAAGTTCTCTTTGGTCAAC	0.478																																						dbGAP											0													130.0	98.0	109.0					7																	148712057		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.553G>T	7.37:g.148712057C>A	ENSP00000286091:p.Glu185*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K6|Q549T6	Nonsense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E185*	ENST00000286091.4	37	c.553	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.524452	0.97637	.	.	ENSG00000155660	ENST00000286091	.	.	.	4.77	4.77	0.60923	.	0.321516	0.35903	N	0.002920	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.801	0.88587	0.0:1.0:0.0:0.0	.	.	.	.	X	185	.	ENSP00000286091:E185X	E	-	1	0	PDIA4	148342990	1.000000	0.71417	0.038000	0.18304	0.671000	0.39405	4.761000	0.62243	2.188000	0.69820	0.460000	0.39030	GAG	PDIA4	-	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000155660		0.478	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	76	0.00	0	C	NM_004911		148712057	148712057	-1	no_errors	ENST00000286091	ensembl	human	known	69_37n	nonsense	57	16.18	11	SNP	0.991	A
PDK1	5163	genome.wustl.edu	37	2	173431637	173431637	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:173431637G>A	ENST00000282077.3	+	6	927	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	PDK1_ENST00000392571.2_Missense_Mutation_p.E269K|PDK1_ENST00000543905.1_Missense_Mutation_p.E173K|PDK1_ENST00000410055.1_Missense_Mutation_p.E249K|PDK1_ENST00000544863.1_Missense_Mutation_p.E94K			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	249	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TAACTCTCCCGAACTAGAACT	0.294									Autosomal Dominant Polycystic Kidney Disease																													dbGAP											0													147.0	148.0	148.0					2																	173431637		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.745G>A	2.37:g.173431637G>A	ENSP00000282077:p.Glu249Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.E249K	ENST00000282077.3	37	c.745	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679703	0.68042	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.65364	0.87;-0.11;1.17;1.17;1.17;-0.15	5.4	5.4	0.78164	ATPase-like, ATP-binding domain (2);	0.042689	0.85682	D	0.000000	T	0.56077	0.1961	L	0.45422	1.42	0.80722	D	1	B;B	0.29188	0.209;0.236	B;B	0.23852	0.049;0.04	T	0.52525	-0.8564	10	0.32370	T	0.25	-22.6525	19.161	0.93531	0.0:0.0:1.0:0.0	.	249;269	Q15118;E9PD65	PDK1_HUMAN;.	K	173;94;249;269;249;167	ENSP00000438567:E173K;ENSP00000437502:E94K;ENSP00000282077:E249K;ENSP00000376352:E269K;ENSP00000386985:E249K;ENSP00000399160:E167K	ENSP00000282077:E249K	E	+	1	0	PDK1	173139883	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.535000	0.85469	0.655000	0.94253	GAA	PDK1	-	superfamily_ATPase-like_ATP-bd	ENSG00000152256		0.294	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	HGNC	protein_coding	OTTHUMT00000255380.3	439	0.00	0	G	NM_002610		173431637	173431637	+1	no_errors	ENST00000282077	ensembl	human	known	69_37n	missense	258	11.95	35	SNP	1.000	A
PDK4	5166	genome.wustl.edu	37	7	95216827	95216827	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:95216827C>T	ENST00000005178.5	-	9	1081	c.884G>A	c.(883-885)gGa>gAa	p.G295E		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	295	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AACACCACCTCCTCTGTCTGA	0.383																																						dbGAP											0													68.0	68.0	68.0					7																	95216827		2203	4300	6503	-	-	-	SO:0001583	missense	0			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.884G>A	7.37:g.95216827C>T	ENSP00000005178:p.Gly295Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.G295E	ENST00000005178.5	37	c.884	CCDS5643.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.255644	0.95336	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.80653	-1.4	5.61	5.61	0.85477	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.95686	0.8597	H	0.99956	5.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97730	1.0202	10	0.87932	D	0	.	20.0173	0.97481	0.0:1.0:0.0:0.0	.	295	Q16654	PDK4_HUMAN	E	295;259	ENSP00000005178:G295E	ENSP00000005178:G295E	G	-	2	0	PDK4	95054763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.812000	0.86109	2.814000	0.96858	0.591000	0.81541	GGA	PDK4	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	ENSG00000004799		0.383	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	HGNC	protein_coding	OTTHUMT00000333298.1	87	0.00	0	C	NM_002612		95216827	95216827	-1	no_errors	ENST00000005178	ensembl	human	known	69_37n	missense	71	14.46	12	SNP	1.000	T
PDLIM5	10611	genome.wustl.edu	37	4	95506855	95506855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:95506855C>T	ENST00000317968.4	+	6	986	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.R175*|PDLIM5_ENST00000538141.1_Nonsense_Mutation_p.R161*|PDLIM5_ENST00000380180.3_Nonsense_Mutation_p.R181*|PDLIM5_ENST00000542407.1_Nonsense_Mutation_p.R162*|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000318007.5_Nonsense_Mutation_p.R161*|PDLIM5_ENST00000508216.1_Nonsense_Mutation_p.R181*|PDLIM5_ENST00000450793.1_Nonsense_Mutation_p.R181*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.R181*	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	284					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCGCTCTTTCCGAATCCTTGC	0.463																																						dbGAP											0													105.0	90.0	95.0					4																	95506855		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.850C>T	4.37:g.95506855C>T	ENSP00000321746:p.Arg284*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R284*	ENST00000317968.4	37	c.850	CCDS3641.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.620537	0.98393	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3287	0.94275	0.0:1.0:0.0:0.0	.	.	.	.	X	175;181;161;181;161;284;181;162;181;181	.	ENSP00000321746:R284X	R	+	1	2	PDLIM5	95725878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.587000	0.53957	2.624000	0.88883	0.650000	0.86243	CGA	PDLIM5	-	NULL	ENSG00000163110		0.463	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	124	0.00	0	C			95506855	95506855	+1	no_errors	ENST00000317968	ensembl	human	known	69_37n	nonsense	63	30.77	28	SNP	1.000	T
PDP1	54704	genome.wustl.edu	37	8	94935867	94935867	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:94935867C>A	ENST00000297598.4	+	2	1849	c.1580C>A	c.(1579-1581)tCt>tAt	p.S527Y	PDP1_ENST00000396200.3_Missense_Mutation_p.S552Y|PDP1_ENST00000520728.1_Missense_Mutation_p.S527Y|PDP1_ENST00000517764.1_Missense_Mutation_p.S527Y	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	527					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CAGTTCAATTCTCATGTTGTA	0.373																																						dbGAP											0													84.0	82.0	82.0					8																	94935867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.1580C>A	8.37:g.94935867C>A	ENSP00000297598:p.Ser527Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S552Y	ENST00000297598.4	37	c.1655	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	C	17.79	3.474781	0.63737	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.49432	0.79;0.79;0.78;0.79	6.17	6.17	0.99709	Protein phosphatase 2C-like (1);	0.179483	0.50627	D	0.000102	T	0.49966	0.1588	L	0.60455	1.87	0.80722	D	1	B;B	0.34181	0.44;0.44	B;B	0.32022	0.139;0.08	T	0.50065	-0.8871	10	0.66056	D	0.02	-18.461	20.8794	0.99867	0.0:1.0:0.0:0.0	.	578;527	B4DYX8;Q9P0J1	.;PDP1_HUMAN	Y	527;527;552;527	ENSP00000297598:S527Y;ENSP00000428317:S527Y;ENSP00000379503:S552Y;ENSP00000430380:S527Y	ENSP00000297598:S527Y	S	+	2	0	PDP1	95005043	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	TCT	PDP1	-	NULL	ENSG00000164951		0.373	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	86	0.00	0	C	NM_018444		94935867	94935867	+1	no_errors	ENST00000396200	ensembl	human	known	69_37n	missense	56	37.08	33	SNP	1.000	A
PDS5B	23047	genome.wustl.edu	37	13	33275529	33275529	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:33275529C>A	ENST00000315596.10	+	17	1996	c.1810C>A	c.(1810-1812)Ctc>Atc	p.L604I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	604					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GATCAAGTTTCTCTTGGAGAG	0.353																																						dbGAP											0													95.0	90.0	91.0					13																	33275529		1821	4078	5899	-	-	-	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1810C>A	13.37:g.33275529C>A	ENSP00000313851:p.Leu604Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L604I	ENST00000315596.10	37	c.1810	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790372	0.90367	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.18	5.18	0.71444	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.73217	2.22	0.58432	D	0.999999	D	0.58620	0.983	P	0.58454	0.839	T	0.78833	-0.2048	9	0.66056	D	0.02	-13.4958	19.0456	0.93018	0.0:1.0:0.0:0.0	.	604	Q9NTI5	PDS5B_HUMAN	I	604	.	ENSP00000313851:L604I	L	+	1	0	PDS5B	32173529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	2.580000	0.87095	0.655000	0.94253	CTC	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.353	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	182	0.00	0	C	NM_015032		33275529	33275529	+1	no_errors	ENST00000315596	ensembl	human	known	69_37n	missense	125	14.97	22	SNP	1.000	A
PDSS2	57107	genome.wustl.edu	37	6	107531712	107531712	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:107531712T>C	ENST00000369037.4	-	6	1216	c.939A>G	c.(937-939)ctA>ctG	p.L313L	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	313					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GAGCTGAGTTTAGATTAAAAG	0.338																																						dbGAP											0													74.0	80.0	78.0					6																	107531712		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.939A>G	6.37:g.107531712T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L313	ENST00000369037.4	37	c.939	CCDS5059.1	6																																																																																			PDSS2	-	superfamily_Terpenoid_synth	ENSG00000164494		0.338	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	124	0.00	0	T	NM_020381		107531712	107531712	-1	no_errors	ENST00000369037	ensembl	human	known	69_37n	silent	78	34.45	41	SNP	0.533	C
PDZD2	23037	genome.wustl.edu	37	5	31995786	31995786	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:31995786C>A	ENST00000438447.1	+	4	1471	c.1083C>A	c.(1081-1083)atC>atA	p.I361I	PDZD2_ENST00000282493.3_Silent_p.I361I			O15018	PDZD2_HUMAN	PDZ domain containing 2	361	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.I361I(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCACGCTATCGTTGTCACTC	0.557																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											153.0	137.0	143.0					5																	31995786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1083C>A	5.37:g.31995786C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I361	ENST00000438447.1	37	c.1083	CCDS34137.1	5																																																																																			PDZD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000133401		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	393	0.00	0	C			31995786	31995786	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	silent	302	10.65	36	SNP	1.000	A
PDZD2	23037	genome.wustl.edu	37	5	32098721	32098721	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:32098721C>T	ENST00000438447.1	+	23	8587	c.8199C>T	c.(8197-8199)atC>atT	p.I2733I	PDZD2_ENST00000282493.3_Silent_p.I2733I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2733					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAAGACCATCCCCCTGGAGC	0.532																																						dbGAP											0													46.0	44.0	45.0					5																	32098721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8199C>T	5.37:g.32098721C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I2733	ENST00000438447.1	37	c.8199	CCDS34137.1	5																																																																																			PDZD2	-	NULL	ENSG00000133401		0.532	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	58	0.00	0	C			32098721	32098721	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	silent	42	28.81	17	SNP	0.000	T
PDZD2	23037	genome.wustl.edu	37	5	32108269	32108269	+	3'UTR	SNP	C	C	T	rs372436965		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:32108269C>T	ENST00000438447.1	+	0	8936				PDZD2_ENST00000282493.3_3'UTR|PDZD2_ENST00000513490.1_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCTCAGTTCTCTTCTTTCT	0.363																																						dbGAP											0													39.0	40.0	40.0					5																	32108269		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.*28C>T	5.37:g.32108269C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXD4	RNA	SNP	-	NULL	ENST00000438447.1	37	NULL	CCDS34137.1	5																																																																																			PDZD2	-	-	ENSG00000133401		0.363	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	199	0.00	0	C			32108269	32108269	+1	no_errors	ENST00000397559	ensembl	human	known	69_37n	rna	148	13.95	24	SNP	0.002	T
PDZD8	118987	genome.wustl.edu	37	10	119043081	119043081	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:119043081T>G	ENST00000334464.5	-	5	3402	c.3163A>C	c.(3163-3165)Aat>Cat	p.N1055H	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1055					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAAGGGAATTATTGTGTTCC	0.398																																						dbGAP											0													114.0	108.0	110.0					10																	119043081		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3163A>C	10.37:g.119043081T>G	ENSP00000334642:p.Asn1055His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.N1055H	ENST00000334464.5	37	c.3163	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	T	16.58	3.161782	0.57368	.	.	ENSG00000165650	ENST00000334464	D	0.86562	-2.14	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89570	0.6753	L	0.29908	0.895	0.51482	D	0.999929	D	0.89917	1.0	D	0.83275	0.996	D	0.89609	0.3840	10	0.42905	T	0.14	-18.7597	15.9886	0.80183	0.0:0.0:0.0:1.0	.	1055	Q8NEN9	PDZD8_HUMAN	H	1055	ENSP00000334642:N1055H	ENSP00000334642:N1055H	N	-	1	0	PDZD8	119033071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.954000	0.70298	2.178000	0.69098	0.482000	0.46254	AAT	PDZD8	-	NULL	ENSG00000165650		0.398	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	216	0.00	0	T	NM_173791		119043081	119043081	-1	no_errors	ENST00000334464	ensembl	human	known	69_37n	missense	94	29.32	39	SNP	1.000	G
PDZRN4	29951	genome.wustl.edu	37	12	41967406	41967406	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:41967406G>T	ENST00000402685.2	+	10	2833	c.2825G>T	c.(2824-2826)aGc>aTc	p.S942I	PDZRN4_ENST00000298919.7_Missense_Mutation_p.S682I|PDZRN4_ENST00000539469.2_Missense_Mutation_p.S684I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	942							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGCTACTGGAGCAAAGAGGAG	0.542																																						dbGAP											0													95.0	90.0	91.0					12																	41967406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2825G>T	12.37:g.41967406G>T	ENSP00000384197:p.Ser942Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.S942I	ENST00000402685.2	37	c.2825	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962371	0.74016	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.77098	-1.07;-1.07;-1.07	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.78314	0.972;0.991;0.991	D	0.89351	0.3661	10	0.87932	D	0	-34.9244	19.7189	0.96135	0.0:0.0:1.0:0.0	.	942;682;684	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	I	942;684;682	ENSP00000384197:S942I;ENSP00000439990:S684I;ENSP00000298919:S682I	ENSP00000298919:S682I	S	+	2	0	PDZRN4	40253673	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.823000	0.86660	2.834000	0.97654	0.650000	0.86243	AGC	PDZRN4	-	NULL	ENSG00000165966		0.542	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	335	0.00	0	G	NM_013377		41967406	41967406	+1	no_errors	ENST00000402685	ensembl	human	known	69_37n	missense	222	12.94	33	SNP	1.000	T
PEAK1	79834	genome.wustl.edu	37	15	77407013	77407013	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:77407013G>A	ENST00000560626.2	-	7	5201	c.4726C>T	c.(4726-4728)Cgc>Tgc	p.R1576C	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1576C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGGGCAAGGCGAGACTGGTCC	0.527																																						dbGAP											0													118.0	116.0	116.0					15																	77407013		1906	4108	6014	-	-	-	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4726C>T	15.37:g.77407013G>A	ENSP00000452796:p.Arg1576Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.R1576C	ENST00000560626.2	37	c.4726	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217389	0.79352	.	.	ENSG00000173517	ENST00000312493	T	0.73469	-0.75	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000002	D	0.85427	0.5694	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86396	0.1739	10	0.87932	D	0	-7.1694	19.3317	0.94293	0.0:0.0:1.0:0.0	.	1576	Q9H792	PEAK1_HUMAN	C	1576	ENSP00000309230:R1576C	ENSP00000309230:R1576C	R	-	1	0	AC087465.1	75194068	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.509000	0.67012	2.582000	0.87167	0.561000	0.74099	CGC	PEAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000173517		0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	Clone_based_vega_gene	protein_coding	OTTHUMT00000419483.3	325	0.00	0	G			77407013	77407013	-1	no_errors	ENST00000312493	ensembl	human	known	69_37n	missense	229	27.07	85	SNP	1.000	A
PEBP4	157310	genome.wustl.edu	37	8	22570925	22570925	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:22570925G>A	ENST00000256404.6	-	7	733	c.642C>T	c.(640-642)agC>agT	p.S214S	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	214						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		GCTTGGGCTCGCTGGCCCTTT	0.597																																						dbGAP											0													79.0	86.0	84.0					8																	22570925		1970	4154	6124	-	-	-	SO:0001819	synonymous_variant	0			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.642C>T	8.37:g.22570925G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EVA1|Q8WW74	Silent	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.S214	ENST00000256404.6	37	c.642	CCDS43724.1	8																																																																																			PEBP4	-	NULL	ENSG00000134020		0.597	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEBP4	HGNC	protein_coding	OTTHUMT00000375141.2	134	0.00	0	G	NM_144962		22570925	22570925	-1	no_errors	ENST00000256404	ensembl	human	known	69_37n	silent	98	57.50	138	SNP	0.000	A
PEG10	23089	genome.wustl.edu	37	7	94294110	94294110	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:94294110G>A	ENST00000482108.1	+	0	1721				PEG10_ENST00000488574.1_3'UTR|PEG10_ENST00000465184.1_3'UTR	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10						apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTTGTCCACGAAACTCACGA	0.502																																						dbGAP											0													78.0	65.0	69.0					7																	94294110		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.*264G>A	7.37:g.94294110G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A68|Q9UPV1	RNA	SNP	-	NULL	ENST00000482108.1	37	NULL	CCDS55126.1	7																																																																																			PEG10	-	-	ENSG00000242265		0.502	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG10	HGNC	protein_coding	OTTHUMT00000340751.1	64	0.00	0	G	NM_015068		94294110	94294110	+1	no_errors	ENST00000465184	ensembl	human	known	69_37n	rna	41	19.61	10	SNP	0.831	A
PEG3	5178	genome.wustl.edu	37	19	57326524	57326524	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57326524C>A	ENST00000326441.9	-	10	3649	c.3286G>T	c.(3286-3288)Gac>Tac	p.D1096Y	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1096Y|PEG3_ENST00000593695.1_Missense_Mutation_p.D970Y|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D972Y|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1096					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTCTGAGGGTCTTCCATGTCT	0.512																																						dbGAP											0													122.0	117.0	119.0					19																	57326524		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3286G>T	19.37:g.57326524C>A	ENSP00000326581:p.Asp1096Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D1096Y	ENST00000326441.9	37	c.3286	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	2.369	-0.344680	0.05208	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	4.06	2.99	0.34606	.	0.943836	0.08810	N	0.890403	T	0.03390	0.0098	L	0.36672	1.1	.	.	.	B;P;P	0.40875	0.122;0.681;0.731	B;B;B	0.36959	0.033;0.169;0.237	T	0.32241	-0.9914	9	0.52906	T	0.07	-10.0292	9.7001	0.40180	0.0:0.7888:0.2112:0.0	.	972;1096;1031	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	1096	ENSP00000326581:D1096Y;ENSP00000403051:D1096Y	ENSP00000326581:D1096Y	D	-	1	0	ZIM2	62018336	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	0.081000	0.14823	1.254000	0.44035	0.655000	0.94253	GAC	PEG3	-	NULL	ENSG00000198300		0.512	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	371	0.00	0	C			57326524	57326524	-1	no_errors	ENST00000326441	ensembl	human	known	69_37n	missense	361	13.64	57	SNP	0.000	A
PEMT	10400	genome.wustl.edu	37	17	17425604	17425604	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:17425604G>A	ENST00000395783.1	-	3	378	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	PEMT_ENST00000255389.5_Missense_Mutation_p.R104C|PEMT_ENST00000435340.2_Missense_Mutation_p.R82C|PEMT_ENST00000395781.2_Missense_Mutation_p.R104C|PEMT_ENST00000395782.1_Missense_Mutation_p.R67C	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	67					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CAGTGCGAGCGCAGGAAGTTC	0.627																																						dbGAP											0													109.0	79.0	90.0					17																	17425604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.199C>T	17.37:g.17425604G>A	ENSP00000379129:p.Arg67Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	pfam_PEMT,pirsf_PEMT/MFAP	p.R104C	ENST00000395783.1	37	c.310	CCDS11187.1	17	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181223	0.38511	.	.	ENSG00000133027	ENST00000255389;ENST00000395783;ENST00000395782;ENST00000435340;ENST00000395781;ENST00000421096	T;T;T;T;T	0.34859	2.01;2.11;2.11;1.35;1.34	4.87	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	M	0.93375	3.41	0.80722	D	1	P;D;P	0.55605	0.943;0.972;0.952	B;P;B	0.48400	0.346;0.576;0.252	T	0.64689	-0.6348	10	0.66056	D	0.02	-37.234	8.7504	0.34611	0.0:0.0:0.7123:0.2877	.	104;104;67	A8MZ66;Q9UBM1-2;Q9UBM1	.;.;PEMT_HUMAN	C	104;67;67;82;104;104	ENSP00000255389:R104C;ENSP00000379129:R67C;ENSP00000379128:R67C;ENSP00000391288:R82C;ENSP00000379127:R104C	ENSP00000255389:R104C	R	-	1	0	PEMT	17366329	0.991000	0.36638	0.828000	0.32881	0.449000	0.32228	2.287000	0.43505	2.235000	0.73313	0.561000	0.74099	CGC	PEMT	-	pfam_PEMT,pirsf_PEMT/MFAP	ENSG00000133027		0.627	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PEMT	HGNC	protein_coding	OTTHUMT00000131657.1	68	0.00	0	G	NM_007169		17425604	17425604	-1	no_errors	ENST00000255389	ensembl	human	known	69_37n	missense	19	28.57	8	SNP	0.856	A
PER2	8864	genome.wustl.edu	37	2	239161562	239161562	+	Silent	SNP	C	C	T	rs535224056		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:239161562C>T	ENST00000254657.3	-	19	3381	c.3102G>A	c.(3100-3102)gcG>gcA	p.A1034A	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1034	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGGTCAGAGGCGCCTTCGGCT	0.617																																						dbGAP											0													82.0	93.0	89.0					2																	239161562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3102G>A	2.37:g.239161562C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.A1034	ENST00000254657.3	37	c.3102	CCDS2528.1	2																																																																																			PER2	-	NULL	ENSG00000132326		0.617	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	56	0.00	0	C	NM_022817		239161562	239161562	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	silent	22	18.52	5	SNP	0.000	T
PER2	8864	genome.wustl.edu	37	2	239162317	239162317	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:239162317C>T	ENST00000254657.3	-	19	2626	c.2347G>A	c.(2347-2349)Gga>Aga	p.G783R	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	783					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAATCTATTCCGGAAGTATTT	0.433																																						dbGAP											0													10.0	12.0	11.0					2																	239162317		2104	4238	6342	-	-	-	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2347G>A	2.37:g.239162317C>T	ENSP00000254657:p.Gly783Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.G783R	ENST00000254657.3	37	c.2347	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698906	0.48307	.	.	ENSG00000132326	ENST00000254657	T	0.11495	2.77	4.2	4.2	0.49525	.	1.316250	0.04889	N	0.449177	T	0.40670	0.1126	M	0.81341	2.54	0.80722	D	1	D;P	0.89917	1.0;0.952	D;B	0.91635	0.999;0.288	T	0.00641	-1.1631	10	0.56958	D	0.05	-16.7189	14.4288	0.67236	0.0:1.0:0.0:0.0	.	783;783	B4DH14;O15055	.;PER2_HUMAN	R	783	ENSP00000254657:G783R	ENSP00000254657:G783R	G	-	1	0	PER2	238827056	0.969000	0.33509	0.333000	0.25482	0.534000	0.34807	3.190000	0.50973	2.064000	0.61679	0.655000	0.94253	GGA	PER2	-	NULL	ENSG00000132326		0.433	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	10	0.00	0	C	NM_022817		239162317	239162317	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.877	T
PER2	8864	genome.wustl.edu	37	2	239164301	239164301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:239164301G>A	ENST00000254657.3	-	18	2596	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	773					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CACTTACTTCGTTCACTTGGC	0.403																																						dbGAP											0													150.0	154.0	153.0					2																	239164301		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2317C>T	2.37:g.239164301G>A	ENSP00000254657:p.Arg773*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Nonsense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.R773*	ENST00000254657.3	37	c.2317	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.378030	0.98784	.	.	ENSG00000132326	ENST00000254657	.	.	.	4.73	3.81	0.43845	.	0.427481	0.16187	U	0.225578	.	.	.	.	.	.	0.28950	N	0.890458	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.49	0.38953	0.0:0.0:0.7375:0.2625	.	.	.	.	X	773	.	ENSP00000254657:R773X	R	-	1	2	PER2	238829040	0.004000	0.15560	0.003000	0.11579	0.673000	0.39480	1.126000	0.31344	1.031000	0.39867	0.650000	0.86243	CGA	PER2	-	NULL	ENSG00000132326		0.403	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	61	0.00	0	G	NM_022817		239164301	239164301	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	nonsense	57	12.12	8	SNP	0.039	A
PER3	8863	genome.wustl.edu	37	1	7869050	7869050	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:7869050C>T	ENST00000361923.2	+	10	1406	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F	PER3_ENST00000377532.3_Missense_Mutation_p.L412F|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	411					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTACAAACTTCTCTTACAGGT	0.308																																						dbGAP											0													59.0	56.0	57.0					1																	7869050		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1231C>T	1.37:g.7869050C>T	ENSP00000355031:p.Leu411Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.L411F	ENST00000361923.2	37	c.1231	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795801	0.50208	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.26660	1.72;2.06	4.0	4.0	0.46444	.	0.065837	0.64402	D	0.000007	T	0.43897	0.1268	M	0.77820	2.39	0.44268	D	0.997127	D;P;P;D	0.56746	0.977;0.598;0.72;0.977	P;B;B;P	0.54460	0.753;0.109;0.219;0.753	T	0.47209	-0.9135	10	0.40728	T	0.16	.	15.3092	0.74016	0.0:1.0:0.0:0.0	.	411;412;412;411	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	412;411	ENSP00000366755:L412F;ENSP00000355031:L411F	ENSP00000355031:L411F	L	+	1	0	PER3	7791637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.092000	0.41700	2.075000	0.62263	0.650000	0.86243	CTC	PER3	-	NULL	ENSG00000049246		0.308	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	86	0.00	0	C	NM_016831		7869050	7869050	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	1.000	T
PER3	8863	genome.wustl.edu	37	1	7887271	7887271	+	Missense_Mutation	SNP	C	C	T	rs139934930		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:7887271C>T	ENST00000361923.2	+	17	2433	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	PER3_ENST00000377532.3_Missense_Mutation_p.S761L|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	753	CSNK1E binding domain. {ECO:0000250}.|Poly-Ser.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S753L(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCAGCTCGAACACCGGC	0.667																																						dbGAP											1	Substitution - Missense(1)	skin(1)											26.0	32.0	30.0					1																	7887271		2189	4283	6472	-	-	-	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2258C>T	1.37:g.7887271C>T	ENSP00000355031:p.Ser753Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.S753L	ENST00000361923.2	37	c.2258	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227307	0.58668	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.12255	2.7;2.7	4.33	0.00453	0.14059	.	7.891070	0.00166	N	0.000005	T	0.25269	0.0614	M	0.73430	2.235	0.09310	N	1	P;D;D;P	0.63880	0.925;0.988;0.993;0.925	B;B;P;B	0.47941	0.101;0.359;0.562;0.101	T	0.30119	-0.9989	10	0.62326	D	0.03	.	7.5705	0.27904	0.4518:0.282:0.2662:0.0	.	753;761;761;753	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	761;753	ENSP00000366755:S761L;ENSP00000355031:S753L	ENSP00000355031:S753L	S	+	2	0	PER3	7809858	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	1.059000	0.30517	-0.161000	0.10983	-0.310000	0.09108	TCG	PER3	-	NULL	ENSG00000049246		0.667	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	24	0.00	0	C	NM_016831		7887271	7887271	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.000	T
PER3	8863	genome.wustl.edu	37	1	7887792	7887792	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:7887792T>G	ENST00000361923.2	+	17	2954	c.2779T>G	c.(2779-2781)Tta>Gta	p.L927V	PER3_ENST00000377532.3_Missense_Mutation_p.L935V|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	927					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTGCAGTTAAACTTACT	0.502																																						dbGAP											0													80.0	74.0	76.0					1																	7887792		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2779T>G	1.37:g.7887792T>G	ENSP00000355031:p.Leu927Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.L927V	ENST00000361923.2	37	c.2779	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135534	0.56828	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.22539	2.26;1.95	4.63	-1.67	0.08238	.	0.133715	0.44285	D	0.000463	T	0.38348	0.1037	M	0.75085	2.285	0.31109	N	0.710186	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.83275	0.991;0.991;0.996;0.991	T	0.33059	-0.9883	10	0.40728	T	0.16	.	9.1905	0.37195	0.0:0.5341:0.0:0.4659	.	927;935;935;927	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	V	935;927;138	ENSP00000366755:L935V;ENSP00000355031:L927V	ENSP00000355031:L927V	L	+	1	2	PER3	7810379	0.795000	0.28851	0.030000	0.17652	0.054000	0.15201	-0.205000	0.09411	-0.526000	0.06383	-0.366000	0.07423	TTA	PER3	-	NULL	ENSG00000049246		0.502	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	69	0.00	0	T	NM_016831		7887792	7887792	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	0.808	G
PEX1	5189	genome.wustl.edu	37	7	92151518	92151518	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:92151518G>T	ENST00000248633.4	-	2	266	c.171C>A	c.(169-171)ttC>ttA	p.F57L	PEX1_ENST00000428214.1_Missense_Mutation_p.F57L|PEX1_ENST00000438045.1_Missense_Mutation_p.F57L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	57					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CCCAGCTCAAGAATGCAGGCT	0.403																																						dbGAP											0													102.0	96.0	98.0					7																	92151518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.171C>A	7.37:g.92151518G>T	ENSP00000248633:p.Phe57Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.F57L	ENST00000248633.4	37	c.171	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075060	0.76415	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	T;T;T	0.76968	-1.06;-1.06;-1.06	6.03	5.15	0.70609	Aspartate decarboxylase-like fold (2);Peroxisome biogenesis factor 1, alpha/beta (1);	0.148253	0.64402	D	0.000007	T	0.71609	0.3360	L	0.46157	1.445	0.80722	D	1	P;P	0.40000	0.698;0.698	B;B	0.39379	0.279;0.298	T	0.73962	-0.3817	10	0.66056	D	0.02	-11.7725	10.484	0.44711	0.2014:0.0:0.7986:0.0	.	57;57	E9PE75;O43933	.;PEX1_HUMAN	L	57	ENSP00000410438:F57L;ENSP00000248633:F57L;ENSP00000394413:F57L	ENSP00000248633:F57L	F	-	3	2	PEX1	91989454	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.280000	0.43443	1.555000	0.49500	0.655000	0.94253	TTC	PEX1	-	pfam_Peroxisome_synth_fac_1_a/b,superfamily_Asp_de-COase-like_fold	ENSG00000127980		0.403	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	132	0.00	0	G	NM_000466		92151518	92151518	-1	no_errors	ENST00000248633	ensembl	human	known	69_37n	missense	92	21.37	25	SNP	1.000	T
PEX5L	51555	genome.wustl.edu	37	3	179527357	179527357	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:179527357C>A	ENST00000467460.1	-	12	1584	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N	PEX5L_ENST00000263962.8_Missense_Mutation_p.K416N|PEX5L_ENST00000476138.1_Missense_Mutation_p.K375N|PEX5L_ENST00000472994.1_Missense_Mutation_p.K359N|PEX5L_ENST00000485199.1_Missense_Mutation_p.K383N|PEX5L_ENST00000465751.1_Missense_Mutation_p.K394N|PEX5L_ENST00000392649.3_Missense_Mutation_p.K310N|PEX5L_ENST00000468741.1_Missense_Mutation_p.K226N|PEX5L_ENST00000464614.1_Missense_Mutation_p.K310N|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	418					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAATCCAATTCTTCAGAGCGT	0.463																																						dbGAP											0													137.0	127.0	130.0					3																	179527357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1254G>T	3.37:g.179527357C>A	ENSP00000419975:p.Lys418Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K418N	ENST00000467460.1	37	c.1254	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090305	0.36855	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	6.03	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.198887	0.50627	D	0.000112	T	0.58323	0.2114	N	0.16233	0.39	0.31010	N	0.719298	B;B;B;B;B;B	0.11235	0.001;0.001;0.004;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001;0.0	T	0.54596	-0.8270	10	0.45353	T	0.12	-27.6388	4.1941	0.10435	0.1557:0.5536:0.0:0.2907	.	359;394;310;416;383;418	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	N	418;416;383;416;310;226;375;306;359;310;394	ENSP00000419975:K418N;ENSP00000263962:K416N;ENSP00000418440:K383N;ENSP00000376420:K310N;ENSP00000418665:K226N;ENSP00000420555:K375N;ENSP00000418054:K359N;ENSP00000417270:K310N;ENSP00000419348:K394N	ENSP00000263962:K416N	K	-	3	2	PEX5L	181010051	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	0.613000	0.24299	0.840000	0.34995	0.557000	0.71058	AAG	PEX5L	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000114757		0.463	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	186	0.00	0	C	NM_016559		179527357	179527357	-1	no_errors	ENST00000467460	ensembl	human	known	69_37n	missense	104	10.34	12	SNP	0.998	A
PFDN1	5201	genome.wustl.edu	37	5	139625621	139625621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:139625621G>A	ENST00000261813.4	-	4	354	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PFDN1_ENST00000510217.1_3'UTR|CYSTM1_ENST00000509789.2_Intron|PFDN1_ENST00000524074.1_Intron|PFDN1_ENST00000514611.1_5'UTR	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	103					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACGCTTCGCTCCAGGTAG	0.552																																						dbGAP											0													55.0	45.0	48.0					5																	139625621		2202	4295	6497	-	-	-	SO:0001587	stop_gained	0			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.307C>T	5.37:g.139625621G>A	ENSP00000261813:p.Arg103*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD02|Q53F95|Q96EX6	Nonsense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.R103*	ENST00000261813.4	37	c.307	CCDS4222.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146074	0.77888	.	.	ENSG00000113068	ENST00000261813	.	.	.	5.38	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-0.7	13.6499	0.62304	0.0:0.0:0.8452:0.1548	.	.	.	.	X	103	.	ENSP00000261813:R103X	R	-	1	2	PFDN1	139605805	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.729000	0.62008	1.228000	0.43614	0.563000	0.77884	CGA	PFDN1	-	pfam_PFD_beta-like,superfamily_Prefoldin	ENSG00000113068		0.552	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN1	HGNC	protein_coding	OTTHUMT00000251354.3	302	0.00	0	G	NM_002622		139625621	139625621	-1	no_errors	ENST00000261813	ensembl	human	known	69_37n	nonsense	178	11.82	24	SNP	1.000	A
NTN4	59277	genome.wustl.edu	37	12	96066751	96066751	+	Intron	SNP	G	G	A	rs375346643		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:96066751G>A	ENST00000343702.4	-	8	1959				NTN4_ENST00000553059.1_Intron|NTN4_ENST00000538383.1_Intron|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Intron	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4						axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACAAGAGCTCGAAGCCCATCA	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1511-2829C>T	12.37:g.96066751G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	RNA	SNP	-	NULL	ENST00000343702.4	37	NULL	CCDS9054.1	12																																																																																			PGAM1P5	-	-	ENSG00000257150		0.547	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM1P5	HGNC	protein_coding	OTTHUMT00000408372.1	57	0.00	0	G	NM_021229		96066751	96066751	+1	no_errors	ENST00000552554	ensembl	human	known	69_37n	rna	32	19.51	8	SNP	1.000	A
PGAM4	441531	genome.wustl.edu	37	X	77224913	77224913	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:77224913C>T	ENST00000458128.1	-	1	222	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	75					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CACATCTGATCAATGGCATCT	0.552																																						dbGAP											0													52.0	50.0	51.0					X																	77224913		2201	4291	6492	-	-	-	SO:0001583	missense	0			AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.223G>A	X.37:g.77224913C>T	ENSP00000412189:p.Asp75Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.D75N	ENST00000458128.1	37	c.223	CCDS35338.1	X	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750747	0.69533	.	.	ENSG00000226784	ENST00000458128	T	0.80393	-1.37	0.119	0.119	0.14685	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.73705	0.3621	L	0.58969	1.84	0.45502	D	0.998462	B	0.29085	0.232	B	0.36244	0.22	T	0.61792	-0.6990	9	.	.	.	-10.9081	6.135	0.20227	0.0:0.9996:0.0:4.0E-4	.	75	Q8N0Y7	PGAM4_HUMAN	N	75	ENSP00000412189:D75N	.	D	-	1	0	PGAM4	77111569	1.000000	0.71417	0.964000	0.40570	0.965000	0.64279	5.224000	0.65288	0.260000	0.21731	0.264000	0.19307	GAT	PGAM4	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000226784		0.552	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM4	HGNC	protein_coding	OTTHUMT00000128371.2	184	0.00	0	C	NM_001029891		77224913	77224913	-1	no_errors	ENST00000458128	ensembl	human	known	69_37n	missense	86	32.28	41	SNP	1.000	T
PGAP1	80055	genome.wustl.edu	37	2	197740525	197740525	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:197740525G>T	ENST00000354764.4	-	14	1485	c.1371C>A	c.(1369-1371)ttC>ttA	p.F457L	PGAP1_ENST00000409475.1_Missense_Mutation_p.F457L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	457					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTTTTTTAAAGAATTCACAAT	0.254																																						dbGAP											0													27.0	30.0	29.0					2																	197740525		2195	4283	6478	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1371C>A	2.37:g.197740525G>T	ENSP00000346809:p.Phe457Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.F457L	ENST00000354764.4	37	c.1371	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	11.13	1.549577	0.27652	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.32	4.36	0.52297	.	0.116286	0.64402	D	0.000010	T	0.47358	0.1441	N	0.14661	0.345	0.80722	D	1	B;P	0.52842	0.012;0.956	B;D	0.65010	0.022;0.931	T	0.26052	-1.0114	9	0.17832	T	0.49	-14.7401	8.0296	0.30457	0.1105:0.0:0.8895:0.0	.	457;457	Q75T13-3;Q75T13	.;PGAP1_HUMAN	L	237;457;457	.	ENSP00000346809:F457L	F	-	3	2	PGAP1	197448770	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.157000	0.42320	2.751000	0.94390	0.591000	0.81541	TTC	PGAP1	-	NULL	ENSG00000197121		0.254	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	237	0.00	0	G	NM_024989		197740525	197740525	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	175	15.05	31	SNP	1.000	T
PGAP1	80055	genome.wustl.edu	37	2	197757952	197757952	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:197757952C>A	ENST00000354764.4	-	8	1059	c.945G>T	c.(943-945)aaG>aaT	p.K315N	PGAP1_ENST00000409188.1_Missense_Mutation_p.K273N|PGAP1_ENST00000409475.1_Missense_Mutation_p.K315N|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	315					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACAGTTTCTTCTTGGAATTTT	0.313																																						dbGAP											0													105.0	109.0	108.0					2																	197757952		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.945G>T	2.37:g.197757952C>A	ENSP00000346809:p.Lys315Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.K315N	ENST00000354764.4	37	c.945	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440661	0.43326	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475;ENST00000409188;ENST00000374738	.	.	.	4.9	3.94	0.45596	.	0.195026	0.48767	D	0.000172	T	0.47563	0.1452	N	0.19112	0.55	0.34611	D	0.717604	B;B;D	0.71674	0.024;0.383;0.998	B;B;D	0.76071	0.014;0.151;0.987	T	0.48186	-0.9057	9	0.17832	T	0.49	-9.6702	10.5792	0.45246	0.0:0.8984:0.0:0.1016	.	273;315;315	B4DYY6;Q75T13-3;Q75T13	.;.;PGAP1_HUMAN	N	95;315;315;273;95	.	ENSP00000346809:K315N	K	-	3	2	PGAP1	197466197	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.213000	0.42844	2.552000	0.86080	0.563000	0.77884	AAG	PGAP1	-	NULL	ENSG00000197121		0.313	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	504	0.00	0	C	NM_024989		197757952	197757952	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	316	10.73	38	SNP	1.000	A
PGBD3	267004	genome.wustl.edu	37	10	50723441	50723441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50723441G>A	ENST00000374127.3	-	2	1921	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.R1042*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.R1042*|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.R1042*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.R574*	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	574										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTTTCACATCGAAAAGTTGTG	0.398																																						dbGAP											0													205.0	175.0	185.0					10																	50723441		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1720C>T	10.37:g.50723441G>A	ENSP00000363242:p.Arg574*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQC4|Q5W0M0|Q6PIH0	Nonsense_Mutation	SNP	NULL	p.R574*	ENST00000374127.3	37	c.1720	CCDS7230.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.638278	0.97726	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	.	.	.	0.706	0.706	0.18133	.	.	.	.	.	.	.	.	.	.	.	0.27850	N	0.940778	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	.	.	.	.	.	.	.	X	574;574;1042;1042	.	ENSP00000387966:R1042X	R	-	1	2	PGBD3;RP11-123B3.6	50393447	0.012000	0.17670	0.002000	0.10522	0.808000	0.45660	-0.491000	0.06474	0.641000	0.30601	0.491000	0.48974	CGA	PGBD3	-	NULL	ENSG00000243251		0.398	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1	178	0.00	0	G			50723441	50723441	-1	no_errors	ENST00000374127	ensembl	human	known	69_37n	nonsense	137	26.34	49	SNP	0.004	A
PGBD3	267004	genome.wustl.edu	37	10	50725153	50725153	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50725153C>T	ENST00000374127.3	-	2	209	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R471Q|PGBD3_ENST00000603152.1_Missense_Mutation_p.R471Q|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R471Q|PGBD3_ENST00000508005.2_Missense_Mutation_p.R3Q	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	3										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTTAGTGTTCGAGGCATCTT	0.388																																						dbGAP											0													88.0	90.0	89.0					10																	50725153		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.8G>A	10.37:g.50725153C>T	ENSP00000363242:p.Arg3Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	NULL	p.R3Q	ENST00000374127.3	37	c.8	CCDS7230.1	10	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961707	0.53400	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.15834	2.39;2.39;3.3;3.3	0.468	0.468	0.16732	.	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.20926	N	0.999825	P;B	0.44241	0.829;0.013	B;B	0.36989	0.238;0.001	T	0.31052	-0.9957	8	0.25106	T	0.35	-10.4804	.	.	.	.	471;3	E7EV46;Q8N328	.;PGBD3_HUMAN	Q	3;3;471;471	ENSP00000363242:R3Q;ENSP00000426963:R3Q;ENSP00000423550:R471Q;ENSP00000387966:R471Q	ENSP00000387966:R471Q	R	-	2	0	PGBD3;RP11-123B3.6	50395159	0.174000	0.23070	0.934000	0.37439	0.930000	0.56654	0.180000	0.16860	0.488000	0.27723	0.491000	0.48974	CGA	PGBD3	-	NULL	ENSG00000243251		0.388	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1	144	0.68	1	C			50725153	50725153	-1	no_errors	ENST00000374127	ensembl	human	known	69_37n	missense	128	17.42	27	SNP	0.995	T
PGF	5228	genome.wustl.edu	37	14	75413099	75413099	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:75413099C>A	ENST00000405431.2	-	6	620	c.621G>T	c.(619-621)gaG>gaT	p.E207D	PGF_ENST00000553716.1_Missense_Mutation_p.E135D|PGF_ENST00000555567.1_Missense_Mutation_p.E135D|PGF_ENST00000238607.6_Missense_Mutation_p.E134D			P49763	PLGF_HUMAN	placental growth factor	207	Heparin-binding. {ECO:0000305}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	GCTTCATCTTCTCCCGCAGAG	0.617											OREG0022810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(127;389 2301 5452 48547)	dbGAP											0													53.0	49.0	50.0					14																	75413099		2203	4300	6503	-	-	-	SO:0001583	missense	0			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.621G>T	14.37:g.75413099C>A	ENSP00000385365:p.Glu207Asp	Somatic	1160	WXS	Illumina GAIIx	Phase_IV	Q07101|Q9BV78|Q9Y6S8	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E207D	ENST00000405431.2	37	c.621	CCDS9835.1	14	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712950	0.30413	.	.	ENSG00000119630	ENST00000555567;ENST00000553716;ENST00000238607;ENST00000405431	.	.	.	5.94	2.06	0.26882	.	29.364000	0.00166	N	0.000000	T	0.20292	0.0488	N	0.14661	0.345	0.23956	N	0.996359	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.25950	-1.0117	9	0.02654	T	1	.	6.1506	0.20310	0.0:0.4209:0.3616:0.2175	.	135;134;135	P49763-2;G3XA84;Q53XY6	.;.;.	D	135;135;134;207	.	ENSP00000238607:E135D	E	-	3	2	PGF	74482852	0.956000	0.32656	0.958000	0.39756	0.985000	0.73830	0.530000	0.23036	0.839000	0.34971	0.561000	0.74099	GAG	PGF	-	NULL	ENSG00000119630		0.617	PGF-008	KNOWN	basic|CCDS	protein_coding	PGF	HGNC	protein_coding	OTTHUMT00000414064.1	136	0.00	0	C	NM_002632		75413099	75413099	-1	no_errors	ENST00000405431	ensembl	human	known	69_37n	missense	79	15.05	14	SNP	0.957	A
PGM1	5236	genome.wustl.edu	37	1	64104379	64104379	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:64104379C>T	ENST00000371084.3	+	7	1265	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	PGM1_ENST00000371083.4_Missense_Mutation_p.A369V|PGM1_ENST00000540265.1_Missense_Mutation_p.A154V	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	351					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACAAAGATTGCTTTGTATGAG	0.498																																						dbGAP											0													173.0	162.0	166.0					1																	64104379		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1052C>T	1.37:g.64104379C>T	ENSP00000360125:p.Ala351Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A369V	ENST00000371084.3	37	c.1106	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510899	0.64522	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.41400	1.0;1.0;1.0	5.74	5.74	0.90152	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.298226	0.36101	N	0.002781	T	0.35595	0.0937	M	0.73598	2.24	0.29335	N	0.866391	B;B	0.22683	0.073;0.015	B;B	0.21917	0.037;0.035	T	0.28038	-1.0056	10	0.59425	D	0.04	-48.0889	19.926	0.97102	0.0:1.0:0.0:0.0	.	369;351	P36871-2;P36871	.;PGM1_HUMAN	V	327;351;154;369	ENSP00000360125:A351V;ENSP00000443449:A154V;ENSP00000360124:A369V	ENSP00000360124:A369V	A	+	2	0	PGM1	63876967	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.972000	0.56838	2.707000	0.92482	0.655000	0.94253	GCT	PGM1	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000079739		0.498	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	311	0.00	0	C	NM_002633		64104379	64104379	+1	no_errors	ENST00000371083	ensembl	human	known	69_37n	missense	148	23.20	45	SNP	1.000	T
PGM2	55276	genome.wustl.edu	37	4	37848904	37848904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:37848904G>T	ENST00000381967.4	+	10	1370	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	PGM2_ENST00000537241.1_Nonsense_Mutation_p.E264*|PGM2_ENST00000544359.1_Nonsense_Mutation_p.E285*	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	424	Substrate binding. {ECO:0000250|UniProtKB:P00949}.				carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTTGCATTTGAAGAAGCTAT	0.383																																						dbGAP											0													69.0	64.0	66.0					4																	37848904		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1270G>T	4.37:g.37848904G>T	ENSP00000371393:p.Glu424*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.E424*	ENST00000381967.4	37	c.1270	CCDS3443.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.901523	0.98551	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	.	.	.	5.96	5.96	0.96718	.	0.085349	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2032	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	424;285;264	.	ENSP00000371393:E424X	E	+	1	0	PGM2	37525299	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	9.776000	0.99001	2.832000	0.97577	0.655000	0.94253	GAA	PGM2	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000169299		0.383	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	176	0.00	0	G	NM_018290		37848904	37848904	+1	no_errors	ENST00000381967	ensembl	human	known	69_37n	nonsense	119	13.77	19	SNP	1.000	T
PGR	5241	genome.wustl.edu	37	11	100909908	100909908	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:100909908G>A	ENST00000325455.5	-	8	4194	c.2741C>T	c.(2740-2742)gCt>gTt	p.A914V	PGR_ENST00000534013.1_Missense_Mutation_p.A320V|PGR_ENST00000263463.5_Missense_Mutation_p.A812V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	914	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TAATTGTGCAGCAATAACTTC	0.368																																					Pancreas(124;2271 2354 21954 22882)	dbGAP											0													105.0	103.0	104.0					11																	100909908		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2741C>T	11.37:g.100909908G>A	ENSP00000325120:p.Ala914Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.A914V	ENST00000325455.5	37	c.2741	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.049971	0.93740	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	D;D;D	0.99755	-1.95;-2.19;-6.64	5.7	5.7	0.88788	Nuclear hormone receptor, ligand-binding (1);	0.057423	0.64402	D	0.000001	D	0.99309	0.9758	L	0.51422	1.61	0.47862	D	0.999533	D;P;P	0.71674	0.998;0.811;0.595	P;B;B	0.47603	0.551;0.211;0.045	D	0.99809	1.1040	10	0.40728	T	0.16	.	19.9087	0.97016	0.0:0.0:1.0:0.0	.	812;914;295	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	V	914;320;812	ENSP00000325120:A914V;ENSP00000436561:A320V;ENSP00000263463:A812V	ENSP00000263463:A812V	A	-	2	0	PGR	100415118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.278000	0.95766	2.704000	0.92352	0.580000	0.79431	GCT	PGR	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000082175		0.368	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	391	0.00	0	G			100909908	100909908	-1	no_errors	ENST00000325455	ensembl	human	known	69_37n	missense	156	25.36	53	SNP	1.000	A
PHEX	5251	genome.wustl.edu	37	X	22094544	22094544	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:22094544G>A	ENST00000379374.4	+	4	953	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	PHEX_ENST00000535894.1_Missense_Mutation_p.E33K|PHEX_ENST00000537599.1_Missense_Mutation_p.E130K	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	130					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GCGGGACACCGAAGCCATACA	0.393																																						dbGAP											0													99.0	89.0	93.0					X																	22094544		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.388G>A	X.37:g.22094544G>A	ENSP00000368682:p.Glu130Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E130K	ENST00000379374.4	37	c.388	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142576	0.37825	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	T;T;T	0.73152	-0.72;-0.72;-0.72	5.35	5.35	0.76521	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.37507	1.11	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.60609	0.805;0.877	T	0.67956	-0.5536	10	0.11485	T	0.65	.	18.4626	0.90745	0.0:0.0:1.0:0.0	.	130;130	F5GXU4;P78562	.;PHEX_HUMAN	K	130;130;33	ENSP00000368682:E130K;ENSP00000440362:E130K;ENSP00000439418:E33K	ENSP00000368682:E130K	E	+	1	0	PHEX	22004465	1.000000	0.71417	0.928000	0.36995	0.758000	0.43043	5.697000	0.68295	2.388000	0.81334	0.523000	0.50628	GAA	PHEX	-	pfam_Peptidase_M13_N	ENSG00000102174		0.393	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	647	0.15	1	G	NM_000444		22094544	22094544	+1	no_errors	ENST00000379374	ensembl	human	known	69_37n	missense	454	15.43	83	SNP	1.000	A
PGRMC1	10857	genome.wustl.edu	37	X	118377133	118377133	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118377133C>A	ENST00000217971.7	+	3	615	c.504C>A	c.(502-504)ggC>ggA	p.G168G	PGRMC1_ENST00000535419.1_Silent_p.G116G	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	168	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	ATCACGTGGGCAAACTGCTGA	0.413																																						dbGAP											0													115.0	129.0	124.0					X																	118377133		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.504C>A	X.37:g.118377133C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1L3|Q9UGJ9	Silent	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.G168	ENST00000217971.7	37	c.504	CCDS14576.1	X																																																																																			PGRMC1	-	pfam_Cyt_B5,superfamily_Cyt_B5	ENSG00000101856		0.413	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGRMC1	HGNC	protein_coding	OTTHUMT00000058024.1	453	0.00	0	C	NM_006667		118377133	118377133	+1	no_errors	ENST00000217971	ensembl	human	known	69_37n	silent	184	22.69	54	SNP	0.998	A
PHF12	57649	genome.wustl.edu	37	17	27240018	27240018	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:27240018G>T	ENST00000332830.4	-	9	2381	c.1571C>A	c.(1570-1572)tCt>tAt	p.S524Y	PHF12_ENST00000577226.1_Missense_Mutation_p.S524Y|PHF12_ENST00000268756.3_Missense_Mutation_p.S524Y|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTCCGCACAAGAACTGCAGCC	0.567																																						dbGAP											0													83.0	88.0	86.0					17																	27240018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1571C>A	17.37:g.27240018G>T	ENSP00000329933:p.Ser524Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.S524Y	ENST00000332830.4	37	c.1571	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281151	0.40394	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94758	-3.5;-3.51;-3.5	5.68	5.68	0.88126	.	0.253575	0.42420	D	0.000719	D	0.94840	0.8333	L	0.48642	1.525	0.48185	D	0.999603	P;D;D;D;P	0.71674	0.94;0.987;0.99;0.998;0.94	P;P;P;P;P	0.61940	0.462;0.663;0.758;0.896;0.462	D	0.93077	0.6488	10	0.32370	T	0.25	-14.9124	11.7893	0.52059	0.0805:0.0:0.9195:0.0	.	506;524;524;524;524	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	Y	524	ENSP00000329933:S524Y;ENSP00000368157:S524Y;ENSP00000268756:S524Y	ENSP00000268756:S524Y	S	-	2	0	PHF12	24264144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.881000	0.63114	2.683000	0.91414	0.655000	0.94253	TCT	PHF12	-	NULL	ENSG00000109118		0.567	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	114	0.00	0	G	NM_020889		27240018	27240018	-1	no_errors	ENST00000332830	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	T
PHF14	9678	genome.wustl.edu	37	7	11078433	11078433	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:11078433G>A	ENST00000403050.3	+	11	2479	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	PHF14_ENST00000445996.2_Missense_Mutation_p.R391Q	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	676					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGAAAACTTCGAAGTGAAGGA	0.358																																						dbGAP											0													83.0	79.0	80.0					7																	11078433		1841	4077	5918	-	-	-	SO:0001583	missense	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.2027G>A	7.37:g.11078433G>A	ENSP00000385795:p.Arg676Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ3|B4DI82	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R676Q	ENST00000403050.3	37	c.2027	CCDS47542.1	7	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404351	0.62288	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.70986	-0.29;-0.53	4.86	4.86	0.63082	.	0.129783	0.49916	D	0.000123	T	0.73644	0.3613	N	0.17082	0.46	0.58432	D	0.999994	D;D;D;P	0.69078	0.997;0.994;0.997;0.678	D;P;D;B	0.70227	0.947;0.885;0.968;0.14	T	0.75628	-0.3252	10	0.44086	T	0.13	.	18.5672	0.91120	0.0:0.0:1.0:0.0	.	391;391;676;676	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	Q	676;391	ENSP00000385795:R676Q;ENSP00000403907:R391Q	ENSP00000385795:R676Q	R	+	2	0	PHF14	11044958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.265000	0.89869	2.695000	0.91970	0.655000	0.94253	CGA	PHF14	-	NULL	ENSG00000106443		0.358	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	186	0.00	0	G	NM_014660		11078433	11078433	+1	no_errors	ENST00000403050	ensembl	human	known	69_37n	missense	173	13.93	28	SNP	1.000	A
PHF14	9678	genome.wustl.edu	37	7	11209125	11209125	+	3'UTR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:11209125T>G	ENST00000469407.1	+	0	1866							O94880	PHF14_HUMAN	PHD finger protein 14						lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAAAAGATTTTCTGTAGTGTT	0.259																																						dbGAP											0													19.0	19.0	19.0					7																	11209125		1779	4001	5780	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000469407.1:c.*1863T>G	7.37:g.11209125T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ3|B4DI82	RNA	SNP	-	NULL	ENST00000469407.1	37	NULL		7																																																																																			PHF14	-	-	ENSG00000106443		0.259	PHF14-005	KNOWN	basic	processed_transcript	PHF14	HGNC	protein_coding	OTTHUMT00000318216.1	73	0.00	0	T	NM_014660		11209125	11209125	+1	no_errors	ENST00000469407	ensembl	human	known	69_37n	rna	37	11.90	5	SNP	0.899	G
JADE3	9767	genome.wustl.edu	37	X	46887306	46887306	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:46887306T>G	ENST00000218343.4	+	6	786	c.488T>G	c.(487-489)gTt>gGt	p.V163G	PHF16_ENST00000397189.1_Missense_Mutation_p.V163G	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGGGCCAGTTGATGAGAAT	0.463																																						dbGAP											0													99.0	83.0	89.0					X																	46887306		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000218343.4:c.488T>G	X.37:g.46887306T>G	ENSP00000218343:p.Val163Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V163G	ENST00000218343.4	37	c.488	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818624	0.90790	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343	T;T;T	0.52057	0.68;0.68;0.68	5.78	5.78	0.91487	Enhancer of polycomb-like, N-terminal (1);	0.371098	0.29948	N	0.010800	T	0.62588	0.2440	M	0.61703	1.905	0.80722	D	1	P	0.45957	0.869	P	0.56474	0.799	T	0.65582	-0.6133	10	0.87932	D	0	.	15.0633	0.71973	0.0:0.0:0.0:1.0	.	163	Q92613	JADE3_HUMAN	G	163	ENSP00000391009:V163G;ENSP00000380373:V163G;ENSP00000218343:V163G	ENSP00000218343:V163G	V	+	2	0	PHF16	46772250	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	4.662000	0.61525	1.939000	0.56221	0.481000	0.45027	GTT	PHF16	-	pfam_Enhancer_polycomb-like_N	ENSG00000102221		0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	237	0.42	1	T			46887306	46887306	+1	no_errors	ENST00000218343	ensembl	human	known	69_37n	missense	185	21.28	50	SNP	0.998	G
JADE3	9767	genome.wustl.edu	37	X	46915519	46915519	+	Missense_Mutation	SNP	G	G	T	rs141837491	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:46915519G>T	ENST00000218343.4	+	10	1777	c.1479G>T	c.(1477-1479)gaG>gaT	p.E493D	PHF16_ENST00000397189.1_Missense_Mutation_p.E493D	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GCAGACGAGAGAAGCTGAAGC	0.393																																						dbGAP											0													119.0	95.0	103.0					X																	46915519		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000218343.4:c.1479G>T	X.37:g.46915519G>T	ENSP00000218343:p.Glu493Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E493D	ENST00000218343.4	37	c.1479	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348014	0.82132	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.72051	-0.62;-0.62	5.6	2.9	0.33743	.	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.91140	3.18	0.58432	D	0.999999	D	0.71674	0.998	D	0.71184	0.972	D	0.85111	0.0963	10	0.87932	D	0	.	10.713	0.45995	0.1998:0.0:0.8002:0.0	.	493	Q92613	JADE3_HUMAN	D	493	ENSP00000380373:E493D;ENSP00000218343:E493D	ENSP00000218343:E493D	E	+	3	2	PHF16	46800463	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.353000	0.66034	0.180000	0.19960	0.600000	0.82982	GAG	PHF16	-	NULL	ENSG00000102221		0.393	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	374	0.00	0	G			46915519	46915519	+1	no_errors	ENST00000218343	ensembl	human	known	69_37n	missense	241	13.93	39	SNP	1.000	T
JADE1	79960	genome.wustl.edu	37	4	129764183	129764183	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:129764183A>C	ENST00000226319.6	+	3	408	c.128A>C	c.(127-129)aAg>aCg	p.K43T	PHF17_ENST00000511647.1_Missense_Mutation_p.K43T|PHF17_ENST00000512960.1_Missense_Mutation_p.K43T|PHF17_ENST00000413543.2_Missense_Mutation_p.K43T|PHF17_ENST00000452328.2_Missense_Mutation_p.K43T	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GAAGATCGAAAGCCTTCAGAG	0.453																																						dbGAP											0													104.0	99.0	101.0					4																	129764183		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000226319.6:c.128A>C	4.37:g.129764183A>C	ENSP00000226319:p.Lys43Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K43T	ENST00000226319.6	37	c.128	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844414	0.71488	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.86	4.86	0.63082	Enhancer of polycomb-like, N-terminal (1);	0.046080	0.85682	D	0.000000	T	0.64068	0.2565	M	0.78049	2.395	0.53005	D	0.999964	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.83275	0.994;0.996;0.972	T	0.66814	-0.5828	9	.	.	.	.	13.1957	0.59736	1.0:0.0:0.0:0.0	.	43;43;43	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	T	43	ENSP00000226319:K43T;ENSP00000423737:K43T;ENSP00000388015:K43T;ENSP00000426590:K43T;ENSP00000425730:K43T;ENSP00000422445:K43T;ENSP00000421265:K43T;ENSP00000404211:K43T;ENSP00000424280:K43T;ENSP00000425535:K43T	.	K	+	2	0	PHF17	129983633	1.000000	0.71417	0.993000	0.49108	0.885000	0.51271	4.627000	0.61276	2.034000	0.60081	0.459000	0.35465	AAG	PHF17	-	pfam_Enhancer_polycomb-like_N	ENSG00000077684		0.453	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	217	0.00	0	A			129764183	129764183	+1	no_errors	ENST00000226319	ensembl	human	known	69_37n	missense	126	17.11	26	SNP	1.000	C
PHF2	5253	genome.wustl.edu	37	9	96425264	96425264	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:96425264C>T	ENST00000359246.4	+	13	2141	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	592	Lys-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCTGGAAATTCGAGAGCAAAC	0.502																																						dbGAP											0													139.0	119.0	126.0					9																	96425264		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1774C>T	9.37:g.96425264C>T	ENSP00000352185:p.Arg592*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXG0|Q8N3K2|Q9Y6N4	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.R592*	ENST00000359246.4	37	c.1774	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	c	41	8.763959	0.98945	.	.	ENSG00000197724	ENST00000359246	.	.	.	4.07	4.07	0.47477	.	0.233854	0.35870	N	0.002929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.0569	16.4558	0.84012	0.0:1.0:0.0:0.0	.	.	.	.	X	592	.	ENSP00000352185:R592X	R	+	1	2	PHF2	95465085	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.055000	0.57441	2.100000	0.63781	0.298000	0.19748	CGA	PHF2	-	NULL	ENSG00000197724		0.502	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	75	0.00	0	C	NM_005392		96425264	96425264	+1	no_errors	ENST00000359246	ensembl	human	known	69_37n	nonsense	80	22.33	23	SNP	0.994	T
PHF20L1	51105	genome.wustl.edu	37	8	133854960	133854960	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:133854960A>G	ENST00000395386.2	+	19	2887	c.2588A>G	c.(2587-2589)tAt>tGt	p.Y863C	PHF20L1_ENST00000220847.7_Missense_Mutation_p.Y250C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Y838C|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	863							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAGCATAGCTATCAAAAGCCA	0.388																																						dbGAP											0													78.0	74.0	75.0					8																	133854960		1865	4112	5977	-	-	-	SO:0001583	missense	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2588A>G	8.37:g.133854960A>G	ENSP00000378784:p.Tyr863Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.Y250C	ENST00000395386.2	37	c.749	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085073	0.76642	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.69685	-0.36;-0.42	5.11	5.11	0.69529	.	0.106335	0.39687	U	0.001281	T	0.81044	0.4741	M	0.75777	2.31	0.47308	D	0.999386	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.83663	0.0162	10	0.87932	D	0	-11.9076	14.3769	0.66884	1.0:0.0:0.0:0.0	.	838;863	F8W9L8;A8MW92	.;P20L1_HUMAN	C	863;250;838	ENSP00000378784:Y863C;ENSP00000378788:Y838C	ENSP00000220847:Y250C	Y	+	2	0	PHF20L1	133924142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.303000	0.78871	2.054000	0.61138	0.528000	0.53228	TAT	PHF20L1	-	NULL	ENSG00000129292		0.388	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	126	0.00	0	A	NM_016018		133854960	133854960	+1	no_errors	ENST00000220847	ensembl	human	known	69_37n	missense	123	11.51	16	SNP	1.000	G
PHF23	79142	genome.wustl.edu	37	17	7139710	7139710	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7139710C>T	ENST00000320316.3	-	4	762	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.R49Q|PHF23_ENST00000571362.1_Missense_Mutation_p.R112Q|PHF23_ENST00000454255.2_Missense_Mutation_p.R175Q|PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000005340.5_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	179							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GTCCTTCTTTCGAGGAGGATG	0.627																																						dbGAP											0													48.0	53.0	52.0					17																	7139710		1864	4095	5959	-	-	-	SO:0001583	missense	0			AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.536G>A	17.37:g.7139710C>T	ENSP00000322579:p.Arg179Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.R179Q	ENST00000320316.3	37	c.536	CCDS42250.1	17	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209160	0.58343	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.34667	1.36;1.35	4.7	4.7	0.59300	.	0.078114	0.52532	D	0.000065	T	0.25938	0.0632	N	0.22421	0.69	0.47009	D	0.999288	D;D	0.65815	0.995;0.995	P;P	0.45558	0.485;0.457	T	0.02087	-1.1216	10	0.12430	T	0.62	-4.0566	12.9979	0.58657	0.0:1.0:0.0:0.0	.	112;179	B4DLK6;Q9BUL5	.;PHF23_HUMAN	Q	179;175	ENSP00000322579:R179Q;ENSP00000414607:R175Q	ENSP00000322579:R179Q	R	-	2	0	PHF23	7080434	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.431000	0.34925	2.421000	0.82119	0.563000	0.77884	CGA	PHF23	-	NULL	ENSG00000040633		0.627	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	HGNC	protein_coding	OTTHUMT00000440047.1	108	0.00	0	C	NM_024297		7139710	7139710	-1	no_errors	ENST00000320316	ensembl	human	known	69_37n	missense	36	23.40	11	SNP	1.000	T
PHF3	23469	genome.wustl.edu	37	6	64394228	64394228	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:64394228G>A	ENST00000262043.3	+	4	945	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	PHF3_ENST00000509330.1_Missense_Mutation_p.R202Q|PHF3_ENST00000393387.1_Missense_Mutation_p.R202Q			Q92576	PHF3_HUMAN	PHD finger protein 3	202					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGGTGCAGCCGAAATAGCGGA	0.403																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													163.0	134.0	144.0					6																	64394228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.605G>A	6.37:g.64394228G>A	ENSP00000262043:p.Arg202Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R202Q	ENST00000262043.3	37	c.605	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751360	0.31046	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.55760	1.44;1.39;1.84;1.45;0.5;1.84	5.72	5.72	0.89469	.	0.000000	0.33419	N	0.004923	T	0.62624	0.2443	M	0.62723	1.935	0.35777	D	0.821353	D;D	0.76494	0.99;0.999	P;P	0.61592	0.518;0.891	T	0.65569	-0.6136	10	0.59425	D	0.04	-3.5259	18.8647	0.92287	0.0:0.0:1.0:0.0	.	202;202	Q92576;D6R9X2	PHF3_HUMAN;.	Q	16;114;202;155;202;202	ENSP00000424694:R16Q;ENSP00000425227:R114Q;ENSP00000262043:R202Q;ENSP00000424078:R155Q;ENSP00000422841:R202Q;ENSP00000377048:R202Q	ENSP00000262043:R202Q	R	+	2	0	PHF3	64452187	0.976000	0.34144	0.431000	0.26735	0.134000	0.20937	4.805000	0.62561	2.695000	0.91970	0.650000	0.86243	CGA	PHF3	-	NULL	ENSG00000118482		0.403	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	162	0.61	1	G			64394228	64394228	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	missense	107	26.21	38	SNP	0.734	A
PHF3	23469	genome.wustl.edu	37	6	64395606	64395606	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:64395606G>T	ENST00000262043.3	+	4	2323	c.1983G>T	c.(1981-1983)ctG>ctT	p.L661L	PHF3_ENST00000509330.1_Silent_p.L661L|PHF3_ENST00000393387.1_Silent_p.L661L			Q92576	PHF3_HUMAN	PHD finger protein 3	661					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGGATAAACTGAAACTGAAAA	0.428																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													70.0	72.0	71.0					6																	64395606		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1983G>T	6.37:g.64395606G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.L661	ENST00000262043.3	37	c.1983	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.428	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	176	0.00	0	G			64395606	64395606	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	silent	130	27.78	50	SNP	0.995	T
PHF3	23469	genome.wustl.edu	37	6	64401881	64401881	+	Missense_Mutation	SNP	G	G	A	rs142808974		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:64401881G>A	ENST00000262043.3	+	5	2784	c.2444G>A	c.(2443-2445)aGa>aAa	p.R815K	PHF3_ENST00000393387.1_Missense_Mutation_p.R815K			Q92576	PHF3_HUMAN	PHD finger protein 3	815					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACAAATGATAGAACCAAATAT	0.323																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													57.0	59.0	58.0					6																	64401881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2444G>A	6.37:g.64401881G>A	ENSP00000262043:p.Arg815Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R815K	ENST00000262043.3	37	c.2444	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	9.295	1.051719	0.19827	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.36520	2.72;2.4;1.25;2.61;2.45;2.61	5.06	3.91	0.45181	.	0.168814	0.28135	N	0.016476	T	0.01800	0.0057	N	0.00162	-1.95	0.24084	N	0.995931	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.02654	T	1	-19.0326	10.3112	0.43710	0.92:0.0:0.08:0.0	.	815	Q92576	PHF3_HUMAN	K	629;727;84;815;768;815	ENSP00000424694:R629K;ENSP00000425227:R727K;ENSP00000425338:R84K;ENSP00000262043:R815K;ENSP00000424078:R768K;ENSP00000377048:R815K	ENSP00000262043:R815K	R	+	2	0	PHF3	64459840	1.000000	0.71417	0.359000	0.25824	0.723000	0.41478	3.016000	0.49607	0.887000	0.36136	-0.482000	0.04802	AGA	PHF3	-	NULL	ENSG00000118482		0.323	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	60	0.00	0	G			64401881	64401881	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	missense	46	24.59	15	SNP	0.868	A
PHF3	23469	genome.wustl.edu	37	6	64422457	64422457	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:64422457G>A	ENST00000262043.3	+	16	5313	c.4973G>A	c.(4972-4974)cGa>cAa	p.R1658Q	PHF3_ENST00000393387.1_Missense_Mutation_p.R1658Q			Q92576	PHF3_HUMAN	PHD finger protein 3	1658					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCAGCAGGACGAAGTCAGCCT	0.458																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													47.0	47.0	47.0					6																	64422457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4973G>A	6.37:g.64422457G>A	ENSP00000262043:p.Arg1658Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R1658Q	ENST00000262043.3	37	c.4973	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185178	0.38609	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.38722	1.12;1.12	5.97	5.11	0.69529	.	0.000000	0.32952	N	0.005444	T	0.17365	0.0417	L	0.36672	1.1	0.40110	D	0.976479	P	0.48230	0.907	B	0.35550	0.205	T	0.02257	-1.1187	9	.	.	.	-10.1946	15.3109	0.74031	0.0669:0.0:0.9331:0.0	.	1658	Q92576	PHF3_HUMAN	Q	1658	ENSP00000262043:R1658Q;ENSP00000377048:R1658Q	.	R	+	2	0	PHF3	64480416	1.000000	0.71417	0.730000	0.30809	0.716000	0.41182	6.716000	0.74702	1.539000	0.49286	0.655000	0.94253	CGA	PHF3	-	NULL	ENSG00000118482		0.458	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	100	0.99	1	G			64422457	64422457	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	missense	68	25.27	23	SNP	0.979	A
PHF8	23133	genome.wustl.edu	37	X	53966665	53966665	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53966665G>A	ENST00000357988.5	-	21	3400	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	PHF8_ENST00000338154.6_Silent_p.F978F|PHF8_ENST00000338946.6_Silent_p.F877F	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1014					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGGTCAAGAAGACACCGG	0.582																																						dbGAP											0													33.0	29.0	31.0					X																	53966665		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.3042C>T	X.37:g.53966665G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S882F	ENST00000357988.5	37	c.2645	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039461	0.19669	.	.	ENSG00000172943	ENST00000396282	.	.	.	5.22	4.35	0.52113	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55179	-0.8181	4	.	.	.	-9.8452	8.4616	0.32931	0.1882:0.0:0.8118:0.0	.	.	.	.	F	882	.	.	S	-	2	0	PHF8	53983390	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.351000	0.52232	0.966000	0.38159	0.509000	0.49947	TCT	PHF8	-	NULL	ENSG00000172943		0.582	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	292	0.00	0	G	NM_015107		53966665	53966665	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000396282	ensembl	human	novel	69_37n	missense	253	13.06	38	SNP	1.000	A
PHF8	23133	genome.wustl.edu	37	X	53966871	53966871	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53966871C>T	ENST00000357988.5	-	21	3194	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	PHF8_ENST00000338154.6_Missense_Mutation_p.D910N|PHF8_ENST00000338946.6_Missense_Mutation_p.D809N	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	946					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGATTGGAGTCTTGAGGGCGA	0.517																																						dbGAP											0													131.0	100.0	110.0					X																	53966871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2836G>A	X.37:g.53966871C>T	ENSP00000350676:p.Asp946Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.D946N	ENST00000357988.5	37	c.2836	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225990	0.39300	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277	T;T;T	0.17213	2.55;2.3;2.29	5.28	5.28	0.74379	.	0.506035	0.20224	N	0.096623	T	0.11324	0.0276	N	0.14661	0.345	0.30057	N	0.811208	B;B;B	0.31318	0.319;0.241;0.155	B;B;B	0.29598	0.048;0.104;0.048	T	0.08868	-1.0701	10	0.19147	T	0.46	-6.4773	16.6998	0.85346	0.0:1.0:0.0:0.0	.	809;845;946	B7Z911;Q9UPP1-3;Q9UPP1	.;.;PHF8_HUMAN	N	946;910;809;839	ENSP00000350676:D946N;ENSP00000338868:D910N;ENSP00000340051:D809N	ENSP00000338868:D910N	D	-	1	0	PHF8	53983596	1.000000	0.71417	0.988000	0.46212	0.688000	0.40055	1.853000	0.39358	2.201000	0.70794	0.431000	0.28591	GAC	PHF8	-	NULL	ENSG00000172943		0.517	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	465	0.00	0	C	NM_015107		53966871	53966871	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	383	29.02	157	SNP	0.999	T
PHF8	23133	genome.wustl.edu	37	X	54012304	54012304	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54012304G>T	ENST00000357988.5	-	17	2540	c.2182C>A	c.(2182-2184)Ctt>Att	p.L728I	PHF8_ENST00000338946.6_Missense_Mutation_p.L591I|PHF8_ENST00000338154.6_Missense_Mutation_p.L692I|PHF8_ENST00000322659.8_Intron	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	728					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGCAGATCAAGAATGCCACCA	0.537																																						dbGAP											0													271.0	177.0	208.0					X																	54012304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2182C>A	X.37:g.54012304G>T	ENSP00000350676:p.Leu728Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.L728I	ENST00000357988.5	37	c.2182	CCDS55420.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.4|20.4|20.4	3.989225|3.989225|3.989225	0.74589|0.74589|0.74589	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277|ENST00000443302	.|T;T;T|.	.|0.24538|.	.|2.1;1.85;1.87|.	5.26|5.26|5.26	5.26|5.26|5.26	0.73747|0.73747|0.73747	.|.|.	.|0.288187|.	.|0.33610|.	.|N|.	.|0.004729|.	T|T|T	0.42177|0.42177|0.42177	0.1191|0.1191|0.1191	L|L|L	0.42744|0.42744|0.42744	1.35|1.35|1.35	0.28603|0.28603|0.28603	N|N|N	0.909071|0.909071|0.909071	.|D;D;D;D|.	.|0.67145|.	.|0.996;0.993;0.996;0.993|.	.|D;D;D;D|.	.|0.80764|.	.|0.994;0.967;0.994;0.987|.	T|T|T	0.35773|0.35773|0.35773	-0.9775|-0.9775|-0.9775	6|10|5	0.02654|0.15952|.	T|T|.	1|0.53|.	-8.1194|-8.1194|-8.1194	10.3291|10.3291|10.3291	0.43812|0.43812|0.43812	0.0944:0.0:0.9056:0.0|0.0944:0.0:0.9056:0.0|0.0944:0.0:0.9056:0.0	.|.|.	.|692;591;627;728|.	.|Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.|.;.;.;PHF8_HUMAN|.	L|I|Y	595;167|728;692;591;621|455	.|ENSP00000350676:L728I;ENSP00000338868:L692I;ENSP00000340051:L591I|.	ENSP00000364335:F167L|ENSP00000338868:L692I|.	F|L|S	-|-|-	3|1|2	2|0|0	PHF8|PHF8|PHF8	54029029|54029029|54029029	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.019000|7.019000|7.019000	0.76412|0.76412|0.76412	2.175000|2.175000|2.175000	0.68902|0.68902|0.68902	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	TTC|CTT|TCT	PHF8	-	NULL	ENSG00000172943		0.537	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	717	0.00	0	G	NM_015107		54012304	54012304	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	471	14.05	77	SNP	1.000	T
PHF8	23133	genome.wustl.edu	37	X	54044120	54044120	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54044120G>T	ENST00000357988.5	-	5	894	c.536C>A	c.(535-537)aCt>aAt	p.T179N	PHF8_ENST00000338946.6_Missense_Mutation_p.T143N|PHF8_ENST00000338154.6_Missense_Mutation_p.T143N|PHF8_ENST00000322659.8_Missense_Mutation_p.T143N	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	179					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.T143I(2)|p.T143N(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATCCCTCACAGTGAATGATGG	0.483																																						dbGAP											4	Substitution - Missense(4)	endometrium(2)|kidney(2)											158.0	105.0	123.0					X																	54044120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.536C>A	X.37:g.54044120G>T	ENSP00000350676:p.Thr179Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T179N	ENST00000357988.5	37	c.536	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909421|2.909421	0.52439|0.52439	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.27402	.|2.27;2.02;2.05;1.67	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.149372	.|0.64402	.|D	.|0.000018	T|T	0.43344|0.43344	0.1243|0.1243	M|M	0.81497|0.81497	2.545|2.545	0.33282|0.33282	D|D	0.56243|0.56243	.|P;P;B	.|0.46020	.|0.796;0.871;0.396	.|B;B;B	.|0.42738	.|0.303;0.396;0.07	T|T	0.62011|0.62011	-0.6944|-0.6944	5|10	.|0.48119	.|T	.|0.1	-16.527|-16.527	17.9897|17.9897	0.89165|0.89165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|143;179;179	.|B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;PHF8_HUMAN	M|N	47|179;143;143;173;143	.|ENSP00000350676:T179N;ENSP00000338868:T143N;ENSP00000340051:T143N;ENSP00000319473:T143N	.|ENSP00000319473:T143N	L|T	-|-	1|2	2|0	PHF8|PHF8	54060845|54060845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.056000|2.056000	0.41355|0.41355	2.524000|2.524000	0.85096|0.85096	0.600000|0.600000	0.82982|0.82982	CTG|ACT	PHF8	-	NULL	ENSG00000172943		0.483	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	276	0.00	0	G	NM_015107		54044120	54044120	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	missense	189	13.30	29	SNP	1.000	T
PHIP	55023	genome.wustl.edu	37	6	79655835	79655835	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:79655835G>A	ENST00000275034.4	-	38	4680	c.4513C>T	c.(4513-4515)Cga>Tga	p.R1505*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1505					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTCTGGTTCGAACCACAGAA	0.433																																						dbGAP											0													182.0	154.0	164.0					6																	79655835		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4513C>T	6.37:g.79655835G>A	ENSP00000275034:p.Arg1505*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1505*	ENST00000275034.4	37	c.4513	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.718017	0.99456	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7981	13.7339	0.62807	0.0:0.0:0.7409:0.2591	.	.	.	.	X	1505;231	.	.	R	-	1	2	PHIP	79712554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.003000	0.49505	2.832000	0.97577	0.655000	0.94253	CGA	PHIP	-	NULL	ENSG00000146247		0.433	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	882	0.00	0	G			79655835	79655835	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	nonsense	626	26.95	231	SNP	1.000	A
PHKA2	5256	genome.wustl.edu	37	X	18970660	18970660	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:18970660C>A	ENST00000379942.4	-	3	903		c.e3-1			NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACCACGTTCTGTGGAGATA	0.537																																						dbGAP											0													166.0	99.0	122.0					X																	18970660		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.238-1G>T	X.37:g.18970660C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Splice_Site	SNP	-	e3-1	ENST00000379942.4	37	c.238-1	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350903	0.82132	.	.	ENSG00000044446	ENST00000379942	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8392	0.92176	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHKA2	18880581	1.000000	0.71417	0.994000	0.49952	0.791000	0.44710	7.580000	0.82523	2.395000	0.81488	0.600000	0.82982	.	PHKA2	-	-	ENSG00000044446		0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	193	0.00	0	C	NM_000292	Intron	18970660	18970660	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	splice_site	138	17.37	29	SNP	1.000	A
PHKA1	5255	genome.wustl.edu	37	X	71830979	71830979	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:71830979G>A	ENST00000373542.4	-	22	2584	c.2425C>T	c.(2425-2427)Ctt>Ttt	p.L809F	PHKA1_ENST00000373539.3_Missense_Mutation_p.L809F|PHKA1_ENST00000373545.3_Missense_Mutation_p.L750F|PHKA1_ENST00000339490.3_Missense_Mutation_p.L809F|PHKA1_ENST00000541944.1_Missense_Mutation_p.L750F	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	809					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TCGGTAAGAAGCTCTCTCACT	0.433																																						dbGAP											0													91.0	78.0	82.0					X																	71830979		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.2425C>T	X.37:g.71830979G>A	ENSP00000362643:p.Leu809Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.L809F	ENST00000373542.4	37	c.2425	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259849	0.80246	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.85	5.85	0.93711	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	M	0.90309	3.105	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97354	0.9965	10	0.72032	D	0.01	-6.1216	16.3512	0.83208	0.0:0.0:1.0:0.0	.	750;809;809	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	F	750;809;750;809;809	ENSP00000362646:L750F;ENSP00000362643:L809F;ENSP00000441251:L750F;ENSP00000342469:L809F;ENSP00000362640:L809F	ENSP00000342469:L809F	L	-	1	0	PHKA1	71747704	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.414000	0.80117	2.467000	0.83353	0.600000	0.82982	CTT	PHKA1	-	pfam_Glyco_hydro_15	ENSG00000067177		0.433	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	204	0.00	0	G			71830979	71830979	-1	no_errors	ENST00000373539	ensembl	human	known	69_37n	missense	105	11.02	13	SNP	1.000	A
PHLDB2	90102	genome.wustl.edu	37	3	111688723	111688723	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:111688723G>A	ENST00000431670.2	+	16	3913	c.3502G>A	c.(3502-3504)Gat>Aat	p.D1168N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.D1125N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D1168N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D1152N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D659N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D1125N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1168	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTTGTTTTTGATCGGAACAA	0.393																																						dbGAP											0													144.0	147.0	146.0					3																	111688723		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3502G>A	3.37:g.111688723G>A	ENSP00000405405:p.Asp1168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1168N	ENST00000431670.2	37	c.3502	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.413521	0.96072	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.09	5.09	0.68999	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.998;0.997	D	0.86523	0.1817	10	0.87932	D	0	.	17.4287	0.87533	0.0:0.0:1.0:0.0	.	280;659;1168;1125;1152	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	N	1152;1168;1125;1168;1125;659	ENSP00000377500:D1152N;ENSP00000405405:D1168N;ENSP00000405292:D1125N;ENSP00000377502:D1168N;ENSP00000418319:D1125N;ENSP00000420303:D659N	ENSP00000377500:D1152N	D	+	1	0	PHLDB2	113171413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.217000	0.95160	2.652000	0.90054	0.585000	0.79938	GAT	PHLDB2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000144824		0.393	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	413	0.00	0	G	NM_145753		111688723	111688723	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	missense	268	16.46	53	SNP	1.000	A
PHLPP1	23239	genome.wustl.edu	37	18	60587216	60587216	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:60587216G>A	ENST00000262719.5	+	10	3063	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	PHLPP1_ENST00000400316.4_Silent_p.R431R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	943					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCAGTCTCCGGAAACTACTGG	0.418																																						dbGAP											0													36.0	35.0	35.0					18																	60587216		1831	4077	5908	-	-	-	SO:0001819	synonymous_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2829G>A	18.37:g.60587216G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E67K	ENST00000262719.5	37	c.199	CCDS45881.2	18																																																																																			PHLPP1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000081913		0.418	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	150	0.00	0	G	NM_194449		60587216	60587216	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000591386	ensembl	human	novel	69_37n	missense	104	26.24	37	SNP	0.998	A
PHLPP1	23239	genome.wustl.edu	37	18	60612478	60612478	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:60612478G>A	ENST00000262719.5	+	12	3532	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E588K			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1100					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GGTCTTTCCCGAAGTTATGCA	0.463																																						dbGAP											0													104.0	97.0	99.0					18																	60612478		1940	4146	6086	-	-	-	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3298G>A	18.37:g.60612478G>A	ENSP00000262719:p.Glu1100Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.E1100K	ENST00000262719.5	37	c.3298	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	32	5.177206	0.94846	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.28454	1.73;1.61	4.92	4.04	0.47022	.	.	.	.	.	T	0.50394	0.1613	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.53725	-0.8398	9	0.66056	D	0.02	-17.928	13.7584	0.62950	0.0745:0.0:0.9255:0.0	.	1100	O60346	PHLP1_HUMAN	K	588;1100	ENSP00000383170:E588K;ENSP00000262719:E1100K	ENSP00000262719:E1100K	E	+	1	0	PHLPP1	58763458	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.290000	0.96065	1.436000	0.47453	0.655000	0.94253	GAA	PHLPP1	-	NULL	ENSG00000081913		0.463	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	133	0.00	0	G	NM_194449		60612478	60612478	+1	no_errors	ENST00000262719	ensembl	human	known	69_37n	missense	109	12.80	16	SNP	1.000	A
PHOSPHO1	162466	genome.wustl.edu	37	17	47302132	47302132	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:47302132C>T	ENST00000310544.4	-	3	407	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.E119K|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.E119K			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	94					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GGGATGGCTTCGTAGATGGCG	0.607																																						dbGAP											0													29.0	26.0	27.0					17																	47302132		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.280G>A	17.37:g.47302132C>T	ENSP00000311925:p.Glu94Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAM0|Q17RU6	Missense_Mutation	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.E119K	ENST00000310544.4	37	c.355	CCDS11547.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486651	0.84854	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.26	5.26	0.73747	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	L	0.42581	1.335	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.987;0.987	T	0.43327	-0.9398	10	0.12103	T	0.63	.	18.4432	0.90674	0.0:1.0:0.0:0.0	.	94;119	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	K	94;119;119;94	ENSP00000311925:E94K;ENSP00000406909:E119K;ENSP00000427694:E119K;ENSP00000426095:E94K	ENSP00000311925:E94K	E	-	1	0	PHOSPHO1	44657131	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.305000	0.78891	2.446000	0.82766	0.313000	0.20887	GAA	PHOSPHO1	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	ENSG00000173868		0.607	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO1	HGNC	protein_coding	OTTHUMT00000364467.2	55	0.00	0	C			47302132	47302132	-1	no_errors	ENST00000413580	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	T
PHRF1	57661	genome.wustl.edu	37	11	601669	601669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:601669C>T	ENST00000264555.5	+	10	1248	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PHRF1_ENST00000416188.2_Nonsense_Mutation_p.R374*|PHRF1_ENST00000533464.1_Nonsense_Mutation_p.R370*|PHRF1_ENST00000413872.2_Nonsense_Mutation_p.R373*	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	374	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGCCAACATCGAGTGAAGAA	0.542																																						dbGAP											0													76.0	88.0	85.0					11																	601669		2017	4169	6186	-	-	-	SO:0001587	stop_gained	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1120C>T	11.37:g.601669C>T	ENSP00000264555:p.Arg374*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R374*	ENST00000264555.5	37	c.1120		11	.	.	.	.	.	.	.	.	.	.	C	37	6.494769	0.97612	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	.	.	.	4.7	4.7	0.59300	.	0.000000	0.38436	N	0.001696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7059	8.7333	0.34512	0.0:0.8984:0.0:0.1016	.	.	.	.	X	374;373;374;370	.	ENSP00000264555:R374X	R	+	1	2	PHRF1	591669	0.086000	0.21541	0.029000	0.17559	0.007000	0.05969	1.417000	0.34770	2.435000	0.82474	0.563000	0.77884	CGA	PHRF1	-	NULL	ENSG00000070047		0.542	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	71	0.00	0	C	NM_020901		601669	601669	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	nonsense	36	26.53	13	SNP	0.013	T
PHTF1	10745	genome.wustl.edu	37	1	114269050	114269050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:114269050G>A	ENST00000369604.1	-	6	961	c.478C>T	c.(478-480)Cga>Tga	p.R160*	PHTF1_ENST00000369596.2_Nonsense_Mutation_p.R107*|PHTF1_ENST00000369600.1_Nonsense_Mutation_p.R107*|PHTF1_ENST00000369598.1_Nonsense_Mutation_p.R160*|PHTF1_ENST00000393357.2_Nonsense_Mutation_p.R160*|PHTF1_ENST00000447664.2_Nonsense_Mutation_p.R160*|PHTF1_ENST00000357783.2_Nonsense_Mutation_p.R160*			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	160					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R160R(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCTTCTTCGATTTCCATTG	0.358																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											159.0	134.0	143.0					1																	114269050		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.478C>T	1.37:g.114269050G>A	ENSP00000358617:p.Arg160*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Nonsense_Mutation	SNP	pfam_TF_homeodomain_male	p.R160*	ENST00000369604.1	37	c.478	CCDS861.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.598558	0.96614	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783;ENST00000447664	.	.	.	5.12	4.2	0.49525	.	0.282320	0.33272	N	0.005095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-16.8078	12.3503	0.55144	0.0:0.0:0.5468:0.4532	.	.	.	.	X	160;160;107;160;107;160;160;160	.	ENSP00000350428:R160X	R	-	1	2	PHTF1	114070573	1.000000	0.71417	0.860000	0.33809	0.000000	0.00434	3.536000	0.53582	1.290000	0.44636	-0.169000	0.13324	CGA	PHTF1	-	NULL	ENSG00000116793		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	237	0.00	0	G	NM_006608		114269050	114269050	-1	no_errors	ENST00000369604	ensembl	human	known	69_37n	nonsense	159	15.34	29	SNP	0.961	A
PHYHIP	9796	genome.wustl.edu	37	8	22079225	22079225	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:22079225G>A	ENST00000321613.3	-	6	1090	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	PHYHIP_ENST00000454243.2_Missense_Mutation_p.R212C	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	212										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TTGAAGAGGCGCTGAGCTGGG	0.627																																						dbGAP											0													16.0	21.0	19.0					8																	22079225		1998	4150	6148	-	-	-	SO:0001583	missense	0			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.634C>T	8.37:g.22079225G>A	ENSP00000320017:p.Arg212Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R212C	ENST00000321613.3	37	c.634	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271584	0.80469	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132;ENST00000523252	T;T	0.31510	1.49;1.49	5.21	5.21	0.72293	.	0.167951	0.53938	D	0.000045	T	0.33731	0.0873	N	0.19112	0.55	0.54753	D	0.999986	D	0.57899	0.981	P	0.52823	0.71	T	0.14282	-1.0478	10	0.56958	D	0.05	-37.6895	17.53	0.87811	0.0:0.0:1.0:0.0	.	212	Q92561	PHYIP_HUMAN	C	212;212;119;164	ENSP00000320017:R212C;ENSP00000415491:R212C	ENSP00000320017:R212C	R	-	1	0	PHYHIP	22135170	0.773000	0.28580	1.000000	0.80357	0.989000	0.77384	1.179000	0.31993	2.430000	0.82344	0.555000	0.69702	CGC	PHYHIP	-	NULL	ENSG00000168490		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	44	0.00	0	G	NM_014759		22079225	22079225	-1	no_errors	ENST00000454243	ensembl	human	known	69_37n	missense	35	18.60	8	SNP	1.000	A
PI15	51050	genome.wustl.edu	37	8	75756241	75756241	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:75756241C>T	ENST00000260113.2	+	3	478	c.299C>T	c.(298-300)tCg>tTg	p.S100L	RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.S100L|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	100	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTTGCAAAATCGGCAGAGGCT	0.418																																						dbGAP											0													106.0	107.0	107.0					8																	75756241		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.299C>T	8.37:g.75756241C>T	ENSP00000260113:p.Ser100Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.S100L	ENST00000260113.2	37	c.299	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315800	0.60524	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.07216	3.21;3.21	5.06	5.06	0.68205	CAP domain (3);	0.055265	0.85682	D	0.000000	T	0.06645	0.0170	L	0.39020	1.185	0.44030	D	0.996757	B	0.31227	0.314	B	0.22601	0.04	T	0.37842	-0.9688	10	0.17832	T	0.49	.	12.3425	0.55101	0.0:0.9229:0.0:0.0771	.	100	O43692	PI15_HUMAN	L	100	ENSP00000260113:S100L;ENSP00000428567:S100L	ENSP00000260113:S100L	S	+	2	0	PI15	75918796	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.403000	0.66338	2.783000	0.95769	0.655000	0.94253	TCG	PI15	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000137558		0.418	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1	295	0.00	0	C	NM_015886		75756241	75756241	+1	no_errors	ENST00000260113	ensembl	human	known	69_37n	missense	165	10.81	20	SNP	1.000	T
PI4KB	5298	genome.wustl.edu	37	1	151280248	151280248	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151280248G>T	ENST00000368873.1	-	4	1152	c.984C>A	c.(982-984)ttC>ttA	p.F328L	PI4KB_ENST00000529142.1_5'UTR|PI4KB_ENST00000368875.2_Missense_Mutation_p.F340L|PI4KB_ENST00000271657.5_Missense_Mutation_p.F340L|PI4KB_ENST00000368872.1_Missense_Mutation_p.F313L|PI4KB_ENST00000368874.4_Missense_Mutation_p.F313L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	328					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGACTTGATGAATTCTCTCT	0.522																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											0													83.0	82.0	82.0					1																	151280248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.984C>A	1.37:g.151280248G>T	ENSP00000357867:p.Phe328Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.F340L	ENST00000368873.1	37	c.1020		1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044019	0.93685	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000368872	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.89	4.98	0.66077	Protein kinase-like domain (1);	0.089566	0.85682	D	0.000000	T	0.75831	0.3903	L	0.60455	1.87	0.80722	D	1	P;P	0.37061	0.58;0.468	B;P	0.44422	0.32;0.449	T	0.80181	-0.1489	10	0.87932	D	0	-20.4644	13.9461	0.64086	0.0735:0.0:0.9265:0.0	.	328;313	Q9UBF8;Q9UBF8-2	PI4KB_HUMAN;.	L	313;340;340;328;313	ENSP00000357868:F313L;ENSP00000357869:F340L;ENSP00000271657:F340L;ENSP00000357867:F328L;ENSP00000357866:F313L	ENSP00000271657:F340L	F	-	3	2	PI4KB	149546872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.553000	0.82203	1.502000	0.48669	0.563000	0.77884	TTC	PI4KB	-	superfamily_Kinase-like_dom	ENSG00000143393		0.522	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	148	0.67	1	G	NM_002651		151280248	151280248	-1	no_errors	ENST00000271657	ensembl	human	known	69_37n	missense	123	14.48	21	SNP	1.000	T
PIBF1	10464	genome.wustl.edu	37	13	73402021	73402021	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:73402021G>A	ENST00000326291.6	+	8	1404	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	356						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAGGCTAGAGAAGAGATGTA	0.398																																						dbGAP											0													61.0	56.0	58.0					13																	73402021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1066G>A	13.37:g.73402021G>A	ENSP00000317144:p.Glu356Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.E356K	ENST00000326291.6	37	c.1066	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221287	0.79464	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.25085	1.82	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.56396	1.775	0.53688	D	0.999973	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.14309	-1.0477	10	0.27082	T	0.32	-15.7073	19.9154	0.97058	0.0:0.0:1.0:0.0	.	356;356	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	K	356	ENSP00000317144:E356K	ENSP00000317144:E356K	E	+	1	0	PIBF1	72300022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.402000	0.97298	2.699000	0.92147	0.650000	0.86243	GAA	PIBF1	-	NULL	ENSG00000083535		0.398	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	175	0.00	0	G	NM_006346		73402021	73402021	+1	no_errors	ENST00000326291	ensembl	human	known	69_37n	missense	111	18.98	26	SNP	1.000	A
PIGA	5277	genome.wustl.edu	37	X	15349471	15349471	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:15349471T>G	ENST00000333590.4	-	2	666	c.582A>C	c.(580-582)ctA>ctC	p.L194L	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	194					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GTGCTGCTCTTAGTACAGTAT	0.398																																						dbGAP											0													139.0	111.0	121.0					X																	15349471		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.582A>C	X.37:g.15349471T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0V2|Q16025|Q16250	Silent	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.L194	ENST00000333590.4	37	c.582	CCDS14165.1	X																																																																																			PIGA	-	NULL	ENSG00000165195		0.398	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	164	0.00	0	T	NM_002641		15349471	15349471	-1	no_errors	ENST00000333590	ensembl	human	known	69_37n	silent	96	18.64	22	SNP	0.989	G
PIGA	5277	genome.wustl.edu	37	X	15349848	15349848	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:15349848T>G	ENST00000333590.4	-	2	289	c.205A>C	c.(205-207)Att>Ctt	p.I69L	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	69					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TGGGTGACAATTATAACCTTA	0.443																																						dbGAP											0													144.0	121.0	129.0					X																	15349848		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.205A>C	X.37:g.15349848T>G	ENSP00000369820:p.Ile69Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1	p.I69L	ENST00000333590.4	37	c.205	CCDS14165.1	X	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534939	0.45073	.	.	ENSG00000165195	ENST00000333590	T	0.75050	-0.9	6.08	2.38	0.29361	.	0.255016	0.44688	D	0.000438	T	0.55657	0.1934	N	0.25144	0.715	0.80722	D	1	B;B;B	0.33345	0.409;0.3;0.214	B;B;B	0.29077	0.098;0.081;0.038	T	0.51458	-0.8703	10	0.56958	D	0.05	-6.2748	7.7871	0.29097	0.0:0.3302:0.0:0.6698	.	69;69;69	A8K382;P37287-2;P37287	.;.;PIGA_HUMAN	L	69	ENSP00000369820:I69L	ENSP00000369820:I69L	I	-	1	0	PIGA	15259769	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	1.203000	0.32284	0.341000	0.23771	0.486000	0.48141	ATT	PIGA	-	NULL	ENSG00000165195		0.443	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGA	HGNC	protein_coding	OTTHUMT00000055854.1	154	0.00	0	T	NM_002641		15349848	15349848	-1	no_errors	ENST00000333590	ensembl	human	known	69_37n	missense	99	14.66	17	SNP	0.992	G
PIGL	9487	genome.wustl.edu	37	17	16221169	16221169	+	Missense_Mutation	SNP	C	C	A	rs142343997	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:16221169C>A	ENST00000225609.5	+	6	624	c.607C>A	c.(607-609)Cat>Aat	p.H203N	PIGL_ENST00000581006.1_Intron|PIGL_ENST00000395844.4_Nonsense_Mutation_p.S192*	NM_004278.3	NP_004269.1	Q9Y2B2	PIGL_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class L	203					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	N-acetylglucosaminylphosphatidylinositol deacetylase activity (GO:0000225)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTCTCTGCTTCATACGCAGGA	0.542																																						dbGAP											0													210.0	157.0	175.0					17																	16221169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017165	CCDS11176.1	17p12-p11.2	2013-02-26	2006-06-28		ENSG00000108474	ENSG00000108474	3.5.1.89	"""Phosphatidylinositol glycan anchor biosynthesis"""	8966	protein-coding gene	gene with protein product	"""N-acetylglucosaminylphosphatidylinositol deacetylase"""	605947	"""phosphatidylinositol glycan, class L"""			10085243	Standard	NM_004278		Approved		uc002gpv.3	Q9Y2B2	OTTHUMG00000059346	ENST00000225609.5:c.607C>A	17.37:g.16221169C>A	ENSP00000225609:p.His203Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA67|B4DYN4	Nonsense_Mutation	SNP	pfam_GlcNAc_PIno_de-acetylase,superfamily_LmbE-like_dom	p.S192*	ENST00000225609.5	37	c.575	CCDS11176.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.310|9.310	1.055280|1.055280	0.19907|0.19907	.|.	.|.	ENSG00000108474|ENSG00000108474	ENST00000225609|ENST00000395844	T|.	0.76448|.	-1.02|.	6.02|6.02	-1.01|-1.01	0.10169|0.10169	Putative deacetylase LmbE-like domain (2);|.	2.477220|.	0.01117|.	N|.	0.005714|.	T|.	0.14485|.	0.0350|.	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.20780|.	0.048|.	B|.	0.14023|.	0.01|.	T|.	0.24119|.	-1.0169|.	10|.	0.13853|0.15066	T|T	0.58|0.55	15.2376|15.2376	1.2815|1.2815	0.02042|0.02042	0.1266:0.3372:0.2467:0.2895|0.1266:0.3372:0.2467:0.2895	.|.	203|.	Q9Y2B2|.	PIGL_HUMAN|.	N|X	203|192	ENSP00000225609:H203N|.	ENSP00000225609:H203N|ENSP00000379185:S192X	H|S	+|+	1|2	0|0	PIGL|PIGL	16161894|16161894	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.703000|0.703000	0.25646|0.25646	-0.352000|-0.352000	0.08237|0.08237	0.655000|0.655000	0.94253|0.94253	CAT|TCA	PIGL	-	NULL	ENSG00000108474		0.542	PIGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGL	HGNC	protein_coding	OTTHUMT00000131881.1	72	0.00	0	C			16221169	16221169	+1	no_errors	ENST00000395844	ensembl	human	novel	69_37n	nonsense	45	35.71	25	SNP	0.000	A
PIGO	84720	genome.wustl.edu	37	9	35092806	35092806	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:35092806G>T	ENST00000378617.3	-	7	1514				PIGO_ENST00000341666.3_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAGGTCAGAGACATAAATTG	0.507																																						dbGAP											0													19.0	21.0	21.0					9																	35092806		2183	4244	6427	-	-	-	SO:0001627	intron_variant	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1120-42C>A	9.37:g.35092806G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	RNA	SNP	-	NULL	ENST00000378617.3	37	NULL	CCDS6575.1	9																																																																																			PIGO	-	-	ENSG00000165282		0.507	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	56	0.00	0	G	NM_032634		35092806	35092806	-1	no_errors	ENST00000465745	ensembl	human	known	69_37n	rna	22	54.17	26	SNP	0.020	T
PIGR	5284	genome.wustl.edu	37	1	207103725	207103725	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:207103725C>T	ENST00000356495.4	-	11	2416	c.2233G>A	c.(2233-2235)Gac>Aac	p.D745N	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	745					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCAGGAAGTCTTTGTAGGCC	0.642																																						dbGAP											0													56.0	54.0	54.0					1																	207103725		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2233G>A	1.37:g.207103725C>T	ENSP00000348888:p.Asp745Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D745N	ENST00000356495.4	37	c.2233	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627241	0.28978	.	.	ENSG00000162896	ENST00000356495	T	0.15372	2.43	5.45	3.55	0.40652	.	0.380302	0.25302	N	0.031655	T	0.09379	0.0231	N	0.22421	0.69	0.21445	N	0.99968	P	0.34462	0.454	B	0.29663	0.105	T	0.21861	-1.0233	10	0.46703	T	0.11	-16.4625	5.608	0.17391	0.1559:0.6722:0.0:0.1718	.	745	P01833	PIGR_HUMAN	N	745	ENSP00000348888:D745N	ENSP00000348888:D745N	D	-	1	0	PIGR	205170348	0.006000	0.16342	0.545000	0.28153	0.083000	0.17756	-0.147000	0.10234	0.645000	0.30675	0.561000	0.74099	GAC	PIGR	-	NULL	ENSG00000162896		0.642	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	132	0.00	0	C	NM_002644		207103725	207103725	-1	no_errors	ENST00000356495	ensembl	human	known	69_37n	missense	81	18.00	18	SNP	0.612	T
PIH1D3	139212	genome.wustl.edu	37	X	106459906	106459906	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:106459906T>G	ENST00000372453.3	+	3	221	c.159T>G	c.(157-159)aaT>aaG	p.N53K	PIH1D3_ENST00000535523.1_Missense_Mutation_p.N53K|PIH1D3_ENST00000336387.4_Missense_Mutation_p.N53K	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	53																	CTCAGACAAATGGTTTATCTA	0.323																																						dbGAP											0													58.0	52.0	54.0					X																	106459906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.159T>G	X.37:g.106459906T>G	ENSP00000361531:p.Asn53Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUX5|Q86WE1	Missense_Mutation	SNP	NULL	p.N53K	ENST00000372453.3	37	c.159	CCDS14528.1	X	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.472039	0.00167	.	.	ENSG00000080572	ENST00000372453;ENST00000535523;ENST00000336387	.	.	.	5.51	-1.46	0.08800	.	1.171240	0.05892	N	0.628429	T	0.26521	0.0648	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18023	-1.0350	9	0.06891	T	0.86	-0.8517	0.2988	0.00270	0.2957:0.1722:0.1437:0.3884	.	53	Q9NQM4	CX041_HUMAN	K	53	.	ENSP00000337757:N53K	N	+	3	2	CXorf41	106346562	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.322000	0.08007	-0.685000	0.05177	-0.318000	0.08688	AAT	PIH1D3	-	NULL	ENSG00000080572		0.323	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D3	HGNC	protein_coding	OTTHUMT00000057832.1	223	0.00	0	T	NM_173494		106459906	106459906	+1	no_errors	ENST00000336387	ensembl	human	known	69_37n	missense	161	10.06	18	SNP	0.000	G
PIK3C2B	5287	genome.wustl.edu	37	1	204415234	204415234	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:204415234C>T	ENST00000367187.3	-	17	3084	c.2528G>A	c.(2527-2529)cGa>cAa	p.R843Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R843Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	843	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCAGTAATATCGCTTCTCCCA	0.612											OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													53.0	53.0	53.0					1																	204415234		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2528G>A	1.37:g.204415234C>T	ENSP00000356155:p.Arg843Gln	Somatic	2144	WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.R843Q	ENST00000367187.3	37	c.2528	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.162840	0.94727	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.73047	-0.71;-0.55	5.51	5.51	0.81932	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.066590	0.56097	D	0.000026	D	0.89770	0.6811	H	0.96489	3.83	0.36210	D	0.851294	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.957	D	0.94429	0.7648	10	0.87932	D	0	.	19.072	0.93143	0.0:1.0:0.0:0.0	.	843;843	F5GWN5;O00750	.;P3C2B_HUMAN	Q	843	ENSP00000356155:R843Q;ENSP00000400561:R843Q	ENSP00000356155:R843Q	R	-	2	0	PIK3C2B	202681857	0.998000	0.40836	0.994000	0.49952	0.989000	0.77384	3.905000	0.56333	2.618000	0.88619	0.460000	0.39030	CGA	PIK3C2B	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000133056		0.612	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	83	0.00	0	C	NM_002646		204415234	204415234	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	56	12.12	8	SNP	1.000	T
PIK3C2G	5288	genome.wustl.edu	37	12	18446852	18446852	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:18446852G>A	ENST00000266497.5	+	4	975	c.937G>A	c.(937-939)Gat>Aat	p.D313N	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.D313N|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000536967.1_3'UTR|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D313N|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.D313N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	313	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTGTCAAAGATCTAATTGC	0.308																																						dbGAP											0													66.0	59.0	61.0					12																	18446852		1808	4061	5869	-	-	-	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.937G>A	12.37:g.18446852G>A	ENSP00000266497:p.Asp313Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.D313N	ENST00000266497.5	37	c.937	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	G	11.51	1.659684	0.29515	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.19	3.3	0.37823	Phosphoinositide 3-kinase, ras-binding (2);	1.081260	0.07057	N	0.832977	T	0.58921	0.2156	M	0.65975	2.015	0.25879	N	0.983612	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71870	0.975;0.958;0.975	T	0.40683	-0.9550	10	0.23891	T	0.37	-20.1793	7.9891	0.30229	0.1101:0.0:0.8899:0.0	.	312;313;313	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	313	ENSP00000443850:D313N;ENSP00000404845:D313N;ENSP00000266497:D313N;ENSP00000445381:D313N	ENSP00000266497:D313N	D	+	1	0	PIK3C2G	18338119	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	2.690000	0.47001	1.368000	0.46115	-0.225000	0.12378	GAT	PIK3C2G	-	pfam_PI3K_Ras-bd_dom	ENSG00000139144		0.308	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	278	0.36	1	G	NM_004570		18446852	18446852	+1	no_errors	ENST00000538779	ensembl	human	known	69_37n	missense	116	28.22	46	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178917560	178917560	+	Silent	SNP	C	C	T	rs1051404		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:178917560C>T	ENST00000263967.3	+	3	592	c.435C>T	c.(433-435)aaC>aaT	p.N145N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	145					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATATTCTGAACGTTTGTAAAG	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													140.0	136.0	137.0					3																	178917560		1837	4094	5931	-	-	-	SO:0001819	synonymous_variant	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.435C>T	3.37:g.178917560C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N145	ENST00000263967.3	37	c.435	CCDS43171.1	3																																																																																			PIK3CA	-	NULL	ENSG00000121879		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	324	0.00	0	C			178917560	178917560	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	silent	219	12.70	32	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952007	178952007	+	Missense_Mutation	SNP	A	A	G	rs121913288		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:178952007A>G	ENST00000263967.3	+	21	3219	c.3062A>G	c.(3061-3063)tAc>tGc	p.Y1021C	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1021	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		Y -> C (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.|Y -> H (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|Y -> N (found in a glioblastoma multiforme sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Y1021C(23)|p.Y1021F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GACATTGCATACATTCGAAAG	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	24	Substitution - Missense(24)	endometrium(12)|large_intestine(6)|stomach(2)|lung(2)|central_nervous_system(1)|ovary(1)											104.0	92.0	95.0					3																	178952007		1876	4119	5995	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3062A>G	3.37:g.178952007A>G	ENSP00000263967:p.Tyr1021Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Y1021C	ENST00000263967.3	37	c.3062	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317192	0.60524	.	.	ENSG00000121879	ENST00000263967	D	0.81579	-1.51	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91676	0.5354	10	0.87932	D	0	-13.4912	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1021	P42336	PK3CA_HUMAN	C	1021	ENSP00000263967:Y1021C	ENSP00000263967:Y1021C	Y	+	2	0	PIK3CA	180434701	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	TAC	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	147	0.00	0	A			178952007	178952007	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	82	33.87	42	SNP	1.000	G
PIK3CG	5294	genome.wustl.edu	37	7	106526632	106526632	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:106526632C>T	ENST00000359195.3	+	10	3235	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	PIK3CG_ENST00000440650.2_Silent_p.F975F|PIK3CG_ENST00000496166.1_Silent_p.F975F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	975	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACAAAAGTTTCCTGGGCATTA	0.413																																						dbGAP											0													105.0	103.0	104.0					7																	106526632		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2925C>T	7.37:g.106526632C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.F975	ENST00000359195.3	37	c.2925	CCDS5739.1	7																																																																																			PIK3CG	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000105851		0.413	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	274	0.00	0	C			106526632	106526632	+1	no_errors	ENST00000359195	ensembl	human	known	69_37n	silent	261	11.78	35	SNP	1.000	T
PIK3R1	5295	genome.wustl.edu	37	5	67588951	67588951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:67588951C>T	ENST00000521381.1	+	9	1658	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R78*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R48*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R348*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	348	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R348*(7)|p.R48*(1)|p.R78*(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAAAAACTTCGAGATACAGC	0.353			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	11	Substitution - Nonsense(9)|Whole gene deletion(1)|Unknown(1)	large_intestine(5)|endometrium(5)|lung(1)											84.0	86.0	85.0					5																	67588951		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1042C>T	5.37:g.67588951C>T	ENSP00000428056:p.Arg348*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R348*	ENST00000521381.1	37	c.1042	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.145650	0.97324	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483;ENST00000519025	.	.	.	5.02	5.02	0.67125	.	0.118259	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6425	18.8724	0.92320	0.0:1.0:0.0:0.0	.	.	.	.	X	348;348;348;348;78;78;48;78;21	.	ENSP00000274335:R348X	R	+	1	2	PIK3R1	67624707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.939000	0.48995	2.770000	0.95276	0.484000	0.47621	CGA	PIK3R1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145675		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	215	0.00	0	C	NM_181504		67588951	67588951	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	nonsense	112	35.26	61	SNP	1.000	T
PIK3R1	5295	genome.wustl.edu	37	5	67591076	67591076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:67591076C>T	ENST00000521381.1	+	13	2285	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R557*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.R194*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R287*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R257*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R557*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R557*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	557					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGCTGAGTATCGAGAAATTGA	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											136.0	137.0	136.0					5																	67591076		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1669C>T	5.37:g.67591076C>T	ENSP00000428056:p.Arg557*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R557*	ENST00000521381.1	37	c.1669	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.827203	0.96996	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	5.02	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3206	13.8243	0.63342	0.4609:0.5391:0.0:0.0	.	.	.	.	X	557;557;557;557;257;287;194	.	ENSP00000274335:R557X	R	+	1	2	PIK3R1	67626832	1.000000	0.71417	0.130000	0.21974	0.903000	0.53119	2.606000	0.46291	0.800000	0.34041	-0.238000	0.12139	CGA	PIK3R1	-	prints_PI3kinase_P85	ENSG00000145675		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	332	0.00	0	C	NM_181504		67591076	67591076	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	nonsense	204	25.27	69	SNP	0.981	T
PIK3R3	8503	genome.wustl.edu	37	1	46509280	46509280	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:46509280C>A	ENST00000262741.5	-	0	2140				PIK3R3_ENST00000372006.1_3'UTR|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_3'UTR|PIK3R3_ENST00000340332.6_3'UTR|PIK3R3_ENST00000420542.1_3'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)						insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AGAATGCCCTCATCGTAGTCT	0.473																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.*65G>T	1.37:g.46509280C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	RNA	SNP	-	NULL	ENST00000262741.5	37	NULL	CCDS529.1	1																																																																																			PIK3R3	-	-	ENSG00000117461		0.473	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	329	0.00	0	C	NM_003629		46509280	46509280	-1	no_errors	ENST00000488808	ensembl	human	known	69_37n	rna	186	14.29	31	SNP	0.996	A
PIK3R4	30849	genome.wustl.edu	37	3	130403144	130403144	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130403144C>T	ENST00000356763.3	-	16	4114	c.3557G>A	c.(3556-3558)cGa>cAa	p.R1186Q	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1186					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GCGTCTGATTCGAGCCCTGGA	0.468																																						dbGAP											0													107.0	99.0	102.0					3																	130403144		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3557G>A	3.37:g.130403144C>T	ENSP00000349205:p.Arg1186Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1186Q	ENST00000356763.3	37	c.3557	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.391392	0.95988	.	.	ENSG00000196455	ENST00000356763	T	0.01304	5.03	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.06781	0.0173	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.56517	-0.7966	10	0.12430	T	0.62	-16.4852	19.3314	0.94291	0.0:1.0:0.0:0.0	.	1186	Q99570	PI3R4_HUMAN	Q	1186	ENSP00000349205:R1186Q	ENSP00000349205:R1186Q	R	-	2	0	PIK3R4	131885834	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	7.594000	0.82698	2.587000	0.87381	0.491000	0.48974	CGA	PIK3R4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196455		0.468	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	740	0.13	1	C	NM_014602		130403144	130403144	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	448	11.39	58	SNP	1.000	T
PIK3R4	30849	genome.wustl.edu	37	3	130424576	130424576	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130424576T>G	ENST00000356763.3	-	12	3318	c.2761A>C	c.(2761-2763)Ata>Cta	p.I921L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	921					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAAACCGGTATTACTGGTTTT	0.353																																						dbGAP											0													118.0	114.0	115.0					3																	130424576		2202	4300	6502	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2761A>C	3.37:g.130424576T>G	ENSP00000349205:p.Ile921Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I921L	ENST00000356763.3	37	c.2761	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	T	3.616	-0.078476	0.07184	.	.	ENSG00000196455	ENST00000356763	T	0.05258	3.47	5.64	0.536	0.17138	.	0.263756	0.43579	D	0.000555	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44832	-0.9302	10	0.25751	T	0.34	-15.2249	7.3117	0.26477	0.0:0.3182:0.1104:0.5714	.	921	Q99570	PI3R4_HUMAN	L	921	ENSP00000349205:I921L	ENSP00000349205:I921L	I	-	1	0	PIK3R4	131907266	0.000000	0.05858	0.270000	0.24601	0.408000	0.30992	-0.221000	0.09202	0.105000	0.17753	0.533000	0.62120	ATA	PIK3R4	-	NULL	ENSG00000196455		0.353	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	405	0.00	0	T	NM_014602		130424576	130424576	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	345	12.21	48	SNP	0.022	G
PIK3R4	30849	genome.wustl.edu	37	3	130435316	130435316	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:130435316C>T	ENST00000356763.3	-	9	2812	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	752					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGAACCATTTCGTTTCTTCTG	0.433																																						dbGAP											0													108.0	109.0	108.0					3																	130435316		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2255G>A	3.37:g.130435316C>T	ENSP00000349205:p.Arg752Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R752Q	ENST00000356763.3	37	c.2255	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.352918	0.95830	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.21	5.21	0.72293	.	0.120443	0.56097	D	0.000029	T	0.67097	0.2857	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65117	-0.6246	10	0.38643	T	0.18	-12.3368	18.7681	0.91881	0.0:1.0:0.0:0.0	.	752	Q99570	PI3R4_HUMAN	Q	752;111;111;111	ENSP00000349205:R752Q;ENSP00000427302:R111Q;ENSP00000424274:R111Q;ENSP00000422767:R111Q	ENSP00000349205:R752Q	R	-	2	0	PIK3R4	131918006	1.000000	0.71417	0.495000	0.27527	0.913000	0.54294	7.487000	0.81328	2.439000	0.82584	0.655000	0.94253	CGA	PIK3R4	-	NULL	ENSG00000196455		0.433	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	184	0.00	0	C	NM_014602		130435316	130435316	-1	no_errors	ENST00000356763	ensembl	human	known	69_37n	missense	135	10.00	15	SNP	1.000	T
PIKFYVE	200576	genome.wustl.edu	37	2	209150459	209150459	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:209150459G>A	ENST00000264380.4	+	6	781	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R111Q|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R122Q|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R208Q	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	208					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAGACCTCCGAGCTTGCACA	0.363																																						dbGAP											0													91.0	91.0	91.0					2																	209150459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.623G>A	2.37:g.209150459G>A	ENSP00000264380:p.Arg208Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.R208Q	ENST00000264380.4	37	c.623	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.133375	0.97310	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	6.17	6.17	0.99709	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000002	D	0.95166	0.8433	H	0.99368	4.535	0.80722	D	1	P;D;D;D;D	0.89917	0.921;1.0;0.999;0.998;0.998	B;D;P;D;D	0.87578	0.427;0.998;0.905;0.992;0.986	D	0.96432	0.9320	10	0.87932	D	0	-3.8284	20.8794	0.99867	0.0:0.0:1.0:0.0	.	208;208;122;208;111	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	Q	111;208;208;122;220;208	ENSP00000264380:R208Q;ENSP00000384356:R208Q;ENSP00000414477:R220Q;ENSP00000405736:R208Q	ENSP00000264380:R208Q	R	+	2	0	PIKFYVE	208858704	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	CGA	PIKFYVE	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000115020		0.363	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	247	0.00	0	G	NM_015040		209150459	209150459	+1	no_errors	ENST00000264380	ensembl	human	known	69_37n	missense	168	11.11	21	SNP	1.000	A
PIP4K2A	5305	genome.wustl.edu	37	10	22830773	22830773	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:22830773G>A	ENST00000376573.4	-	8	1224	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PIP4K2A_ENST00000545335.1_Silent_p.F273F|PIP4K2A_ENST00000323883.7_Silent_p.F192F	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	332	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGTTCGGATCGAACTCCCCGG	0.542																																						dbGAP											0													76.0	71.0	73.0					10																	22830773		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.996C>T	10.37:g.22830773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.F332	ENST00000376573.4	37	c.996	CCDS7141.1	10																																																																																			PIP4K2A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000150867		0.542	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1	180	0.00	0	G	NM_005028		22830773	22830773	-1	no_errors	ENST00000376573	ensembl	human	known	69_37n	silent	135	12.90	20	SNP	0.829	A
PIPOX	51268	genome.wustl.edu	37	17	27383408	27383408	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:27383408G>T	ENST00000323372.4	+	0	1584				PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase						L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GTGTCCCTGAGATATCATCCT	0.512																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.*85G>T	17.37:g.27383408G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNH0|Q96H28|Q9C070	RNA	SNP	-	NULL	ENST00000323372.4	37	NULL	CCDS11248.1	17																																																																																			PIPOX	-	-	ENSG00000179761		0.512	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIPOX	HGNC	protein_coding	OTTHUMT00000255954.1	45	0.00	0	G	NM_016518		27383408	27383408	+1	no_errors	ENST00000580241	ensembl	human	known	69_37n	rna	50	10.71	6	SNP	0.000	T
PIWIL3	440822	genome.wustl.edu	37	22	25152477	25152477	+	Missense_Mutation	SNP	G	G	T	rs149745690	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:25152477G>T	ENST00000332271.5	-	5	967	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	PIWIL3_ENST00000533313.1_Missense_Mutation_p.S75Y|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S75Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	184					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGTGGCCGAGATAATAATAA	0.328																																						dbGAP											0													73.0	73.0	73.0					22																	25152477		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.551C>A	22.37:g.25152477G>T	ENSP00000330031:p.Ser184Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.S184Y	ENST00000332271.5	37	c.551	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711335	0.30322	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.16743	2.32;2.32;2.32	2.51	1.48	0.22813	Argonaute/Dicer protein, PAZ (1);	0.127811	0.53938	U	0.000052	T	0.20373	0.0490	L	0.56199	1.76	0.09310	N	1	B;B;D	0.54047	0.041;0.315;0.964	B;B;P	0.51415	0.015;0.067;0.669	T	0.04664	-1.0935	10	0.46703	T	0.11	-2.8375	5.212	0.15322	0.1677:0.0:0.8323:0.0	.	75;184;184	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Y	184;75;75	ENSP00000330031:S184Y;ENSP00000431843:S75Y;ENSP00000435718:S75Y	ENSP00000330031:S184Y	S	-	2	0	PIWIL3	23482477	0.990000	0.36364	0.001000	0.08648	0.046000	0.14306	2.282000	0.43461	0.625000	0.30304	0.455000	0.32223	TCT	PIWIL3	-	superfamily_PAZ	ENSG00000184571		0.328	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	389	0.26	1	G	NM_001008496		25152477	25152477	-1	no_errors	ENST00000332271	ensembl	human	known	69_37n	missense	351	10.00	39	SNP	0.003	T
PISD	23761	genome.wustl.edu	37	22	32015676	32015676	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32015676G>A	ENST00000439502.2	-	8	1375	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	PISD_ENST00000266095.5_Silent_p.F350F|PISD_ENST00000336566.4_Silent_p.F383F|PISD_ENST00000478893.1_5'Flank|PISD_ENST00000397500.1_3'UTR|PISD_ENST00000382151.2_Silent_p.F350F			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	384					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGGGGGCCTCGAAGATGAGCA	0.557																																						dbGAP											0													102.0	93.0	96.0					22																	32015676		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.1152C>T	22.37:g.32015676G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	pfam_PS_Dcarbxylase	p.S337L	ENST00000439502.2	37	c.1010		22	.	.	.	.	.	.	.	.	.	.	g	0.152	-1.089897	0.01873	.	.	ENSG00000241878	ENST00000435900	.	.	.	5.29	-8.34	0.00988	.	.	.	.	.	T	0.63498	0.2516	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70281	-0.4915	4	.	.	.	-17.2985	17.448	0.87584	0.7163:0.0:0.2837:0.0	.	.	.	.	L	337	.	.	S	-	2	0	PISD	30345676	0.005000	0.15991	0.400000	0.26346	0.078000	0.17371	-1.042000	0.03539	-1.784000	0.01272	-3.118000	0.00062	TCG	PISD	-	pfam_PS_Dcarbxylase	ENSG00000241878		0.557	PISD-001	KNOWN	basic	protein_coding	PISD	HGNC	protein_coding	OTTHUMT00000075106.4	177	0.00	0	G			32015676	32015676	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000435900	ensembl	human	novel	69_37n	missense	84	10.53	10	SNP	0.091	A
PJA1	64219	genome.wustl.edu	37	X	68381749	68381749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:68381749G>A	ENST00000361478.1	-	2	1710	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	PJA1_ENST00000374584.3_Nonsense_Mutation_p.R257*|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R390*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R445*|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	445					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GATGGTTCTCGAACTTCTTCA	0.577																																						dbGAP											0													70.0	73.0	72.0					X																	68381749		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1333C>T	X.37:g.68381749G>A	ENSP00000355014:p.Arg445*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R445*	ENST00000361478.1	37	c.1333	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	g	24.1	4.493884	0.84962	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.54	1.68	0.24146	.	1.774020	0.03587	U	0.231203	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	0.4576	7.7094	0.28669	0.0:0.0:0.5463:0.4537	.	.	.	.	X	360;257;445;445;390	.	ENSP00000355014:R445X	R	-	1	2	PJA1	68298474	0.407000	0.25352	0.000000	0.03702	0.024000	0.10985	0.764000	0.26532	0.322000	0.23283	-0.337000	0.08149	CGA	PJA1	-	NULL	ENSG00000181191		0.577	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	24	0.00	0	G	NM_145119		68381749	68381749	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	nonsense	22	33.33	11	SNP	0.000	A
PJA1	64219	genome.wustl.edu	37	X	68382056	68382056	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:68382056T>C	ENST00000361478.1	-	2	1403	c.1026A>G	c.(1024-1026)cgA>cgG	p.R342R	PJA1_ENST00000374584.3_Silent_p.R154R|PJA1_ENST00000374571.4_Silent_p.R287R|PJA1_ENST00000374583.1_Silent_p.R342R|PJA1_ENST00000477231.1_5'Flank	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	342	Poly-Arg.				protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CCATGGTGCGTCGTCGTCTCG	0.532																																						dbGAP											0													128.0	80.0	96.0					X																	68382056		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1026A>G	X.37:g.68382056T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R342	ENST00000361478.1	37	c.1026	CCDS14393.1	X																																																																																			PJA1	-	NULL	ENSG00000181191		0.532	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	72	0.00	0	T	NM_145119		68382056	68382056	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	silent	57	21.92	16	SNP	0.000	C
PJA1	64219	genome.wustl.edu	37	X	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	136					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGGCGGTCGCTCAACAGGC	0.522																																						dbGAP											0													46.0	45.0	45.0					X																	68382676		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.406C>T	X.37:g.68382676G>A	ENSP00000355014:p.Arg136*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R136*	ENST00000361478.1	37	c.406	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.514824	0.96402	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.12	3.12	0.35913	.	1.339660	0.05905	U	0.630712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.011	0.24863	0.0:0.0:0.7295:0.2705	.	.	.	.	X	81;136;136;81	.	ENSP00000355014:R136X	R	-	1	2	PJA1	68299401	0.003000	0.15002	0.900000	0.35374	0.990000	0.78478	0.313000	0.19415	1.875000	0.54330	0.464000	0.42555	CGA	PJA1	-	NULL	ENSG00000181191		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	46	0.00	0	G	NM_145119		68382676	68382676	-1	no_errors	ENST00000361478	ensembl	human	known	69_37n	nonsense	22	33.33	11	SNP	0.847	A
PKD1L1	168507	genome.wustl.edu	37	7	47855019	47855019	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47855019G>A	ENST00000289672.2	-	47	7052	c.7002C>T	c.(7000-7002)atC>atT	p.I2334I	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2334					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCAGTCAGCGATGTTTCTCA	0.522																																						dbGAP											0													100.0	89.0	93.0					7																	47855019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7002C>T	7.37:g.47855019G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.I2334	ENST00000289672.2	37	c.7002	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.522	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	96	0.00	0	G	NM_138295		47855019	47855019	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	silent	62	11.43	8	SNP	0.000	A
PKD1L1	168507	genome.wustl.edu	37	7	47869079	47869079	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47869079G>A	ENST00000289672.2	-	44	6729	c.6679C>T	c.(6679-6681)Cgc>Tgc	p.R2227C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2227					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R2227C(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGGGGAGGCGAGTCCAGGAA	0.423																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											133.0	140.0	138.0					7																	47869079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6679C>T	7.37:g.47869079G>A	ENSP00000289672:p.Arg2227Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.R2227C	ENST00000289672.2	37	c.6679	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	7.217	0.596546	0.13875	.	.	ENSG00000158683	ENST00000289672	T	0.19806	2.12	4.06	0.189	0.15119	.	1.715890	0.02829	N	0.126504	T	0.20129	0.0484	L	0.47716	1.5	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.21075	-1.0256	10	0.33940	T	0.23	-0.6062	6.2846	0.21027	0.4564:0.0:0.5436:0.0	.	2227	Q8TDX9	PK1L1_HUMAN	C	2227	ENSP00000289672:R2227C	ENSP00000289672:R2227C	R	-	1	0	PKD1L1	47835604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.002000	0.12924	-0.157000	0.11059	-1.012000	0.02466	CGC	PKD1L1	-	NULL	ENSG00000158683		0.423	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	212	0.00	0	G	NM_138295		47869079	47869079	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	112	11.11	14	SNP	0.000	A
PKD1L1	168507	genome.wustl.edu	37	7	47869657	47869657	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47869657A>T	ENST00000289672.2	-	43	6589	c.6539T>A	c.(6538-6540)tTc>tAc	p.F2180Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2180					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGGGTGATGAAAATACAGCA	0.552																																						dbGAP											0													74.0	62.0	66.0					7																	47869657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6539T>A	7.37:g.47869657A>T	ENSP00000289672:p.Phe2180Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.F2180Y	ENST00000289672.2	37	c.6539	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064115	0.55432	.	.	ENSG00000158683	ENST00000289672	T	0.36340	1.26	4.64	3.45	0.39498	.	0.431704	0.19544	N	0.111730	T	0.43277	0.1240	L	0.50333	1.59	0.09310	N	1	D	0.67145	0.996	P	0.56216	0.794	T	0.20306	-1.0279	10	0.52906	T	0.07	-9.8201	8.0776	0.30726	0.7943:0.2057:0.0:0.0	.	2180	Q8TDX9	PK1L1_HUMAN	Y	2180	ENSP00000289672:F2180Y	ENSP00000289672:F2180Y	F	-	2	0	PKD1L1	47836182	0.020000	0.18652	0.001000	0.08648	0.983000	0.72400	3.777000	0.55364	0.776000	0.33473	0.460000	0.39030	TTC	PKD1L1	-	NULL	ENSG00000158683		0.552	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	43	0.00	0	A	NM_138295		47869657	47869657	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.001	T
PKD1L1	168507	genome.wustl.edu	37	7	47904823	47904823	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47904823G>T	ENST00000289672.2	-	26	4190	c.4140C>A	c.(4138-4140)ttC>ttA	p.F1380L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1380	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTTATTAGAGAAGCTCACGA	0.343																																						dbGAP											0													56.0	54.0	55.0					7																	47904823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4140C>A	7.37:g.47904823G>T	ENSP00000289672:p.Phe1380Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.F1380L	ENST00000289672.2	37	c.4140	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050607	0.19827	.	.	ENSG00000158683	ENST00000289672	T	0.18338	2.22	5.21	1.35	0.21983	Egg jelly receptor, REJ-like (1);	0.625059	0.15303	N	0.269513	T	0.12390	0.0301	L	0.57536	1.79	0.09310	N	1	B	0.30824	0.296	B	0.19946	0.027	T	0.33033	-0.9884	10	0.10902	T	0.67	-11.9444	7.0167	0.24892	0.4614:0.0:0.5386:0.0	.	1380	Q8TDX9	PK1L1_HUMAN	L	1380	ENSP00000289672:F1380L	ENSP00000289672:F1380L	F	-	3	2	PKD1L1	47871348	0.107000	0.21998	0.008000	0.14137	0.829000	0.46940	0.996000	0.29719	0.196000	0.20367	0.650000	0.86243	TTC	PKD1L1	-	pfscan_REJ-like	ENSG00000158683		0.343	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	255	0.00	0	G	NM_138295		47904823	47904823	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	184	13.21	28	SNP	0.001	T
PKD1L3	342372	genome.wustl.edu	37	16	72003881	72003881	+	RNA	SNP	G	G	A	rs553586556		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:72003881G>A	ENST00000534738.1	-	0	2076							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						TTGGTCACGCGAAGGAACAGT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20244	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													109.0	87.0	93.0					16																	72003881		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72003881G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.493	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	92	0.00	0	G	NM_181536		72003881	72003881	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	35	37.50	21	SNP	0.012	A
PKD1L3	342372	genome.wustl.edu	37	16	72013694	72013694	+	RNA	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:72013694A>C	ENST00000534738.1	-	0	1388							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						CTTGGACATTAACTCCTGGAT	0.443																																						dbGAP											0													102.0	75.0	83.0					16																	72013694		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.72013694A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.443	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	76	0.00	0	A	NM_181536		72013694	72013694	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	57	24.00	18	SNP	0.001	C
PKD2L1	9033	genome.wustl.edu	37	10	102049841	102049841	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:102049841C>A	ENST00000318222.3	-	14	2563	c.2181G>T	c.(2179-2181)caG>caT	p.Q727H	PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q727H|PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q652H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	727	Required for protein homotrimerization.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CAGCATCAATCTGGGACACTA	0.552																																						dbGAP											0													103.0	94.0	97.0					10																	102049841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2181G>T	10.37:g.102049841C>A	ENSP00000325296:p.Gln727His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.Q727H	ENST00000318222.3	37	c.2181	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115293	0.37339	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.75938	-0.98;-0.98;-0.98	5.49	3.64	0.41730	.	0.231419	0.38548	N	0.001656	T	0.73729	0.3624	M	0.62723	1.935	0.35223	D	0.7762	P;P	0.47604	0.898;0.74	P;P	0.47645	0.553;0.519	T	0.79408	-0.1816	10	0.72032	D	0.01	-5.3564	8.4516	0.32873	0.0:0.7582:0.0:0.2418	.	680;727	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	H	652;727;727;725	ENSP00000345068:Q652H;ENSP00000266049:Q727H;ENSP00000325296:Q727H	ENSP00000325296:Q727H	Q	-	3	2	PKD2L1	102039831	1.000000	0.71417	0.298000	0.25002	0.208000	0.24298	1.885000	0.39678	0.691000	0.31592	0.305000	0.20034	CAG	PKD2L1	-	prints_PKD_2	ENSG00000107593		0.552	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	83	0.00	0	C	NM_016112		102049841	102049841	-1	no_errors	ENST00000318222	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	0.948	A
PKD2L2	27039	genome.wustl.edu	37	5	137243571	137243571	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:137243571T>C	ENST00000508883.1	+	7	1142	c.1116T>C	c.(1114-1116)atT>atC	p.I372I	PKD2L2_ENST00000350250.4_Silent_p.I338I|PKD2L2_ENST00000508638.1_Silent_p.I372I|PKD2L2_ENST00000290431.5_Silent_p.I372I|PKD2L2_ENST00000502810.1_Silent_p.I350I			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	372					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATAATATAATTGCTATTACCA	0.254																																						dbGAP											0													35.0	30.0	32.0					5																	137243571		1779	4044	5823	-	-	-	SO:0001819	synonymous_variant	0			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1116T>C	5.37:g.137243571T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.I372	ENST00000508883.1	37	c.1116		5																																																																																			PKD2L2	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	ENSG00000078795		0.254	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	212	0.00	0	T	NM_014386		137243571	137243571	+1	no_errors	ENST00000508883	ensembl	human	known	69_37n	silent	131	26.40	47	SNP	1.000	C
PKDREJ	10343	genome.wustl.edu	37	22	46655146	46655146	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:46655146G>T	ENST00000253255.5	-	1	4073	c.4074C>A	c.(4072-4074)ttC>ttA	p.F1358L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1358					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATCTATAAAGAAAAAGTCTT	0.398																																						dbGAP											0													65.0	67.0	67.0					22																	46655146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4074C>A	22.37:g.46655146G>T	ENSP00000253255:p.Phe1358Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.F1358L	ENST00000253255.5	37	c.4074	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251956	0.22880	.	.	ENSG00000130943	ENST00000253255	T	0.42900	0.96	5.09	1.84	0.25277	.	0.099426	0.44688	N	0.000431	T	0.40595	0.1123	M	0.85777	2.775	0.32857	D	0.507428	P	0.38711	0.643	B	0.33454	0.164	T	0.53415	-0.8442	10	0.59425	D	0.04	-25.5105	6.6391	0.22899	0.2243:0.1306:0.6451:0.0	.	1358	Q9NTG1	PKDRE_HUMAN	L	1358	ENSP00000253255:F1358L	ENSP00000253255:F1358L	F	-	3	2	PKDREJ	45033810	0.081000	0.21417	0.309000	0.25155	0.131000	0.20780	0.333000	0.19768	0.255000	0.21593	0.511000	0.50034	TTC	PKDREJ	-	NULL	ENSG00000130943		0.398	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	50	0.00	0	G	NM_006071		46655146	46655146	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.812	T
PKDREJ	10343	genome.wustl.edu	37	22	46655510	46655510	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:46655510A>C	ENST00000253255.5	-	1	3709	c.3710T>G	c.(3709-3711)tTt>tGt	p.F1237C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1237	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTTCCTGTAAAAATAGTCAC	0.448																																						dbGAP											0													91.0	96.0	94.0					22																	46655510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3710T>G	22.37:g.46655510A>C	ENSP00000253255:p.Phe1237Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.F1237C	ENST00000253255.5	37	c.3710	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524768	0.64747	.	.	ENSG00000130943	ENST00000253255	T	0.64085	-0.08	5.04	3.91	0.45181	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.100578	0.44097	D	0.000497	T	0.75510	0.3859	M	0.80746	2.51	0.39312	D	0.965098	D	0.89917	1.0	D	0.74348	0.983	T	0.77593	-0.2530	10	0.52906	T	0.07	-31.9601	7.7285	0.28773	0.6287:0.0:0.0:0.3713	.	1237	Q9NTG1	PKDRE_HUMAN	C	1237	ENSP00000253255:F1237C	ENSP00000253255:F1237C	F	-	2	0	PKDREJ	45034174	1.000000	0.71417	0.959000	0.39883	0.932000	0.56968	4.389000	0.59639	2.038000	0.60285	0.459000	0.35465	TTT	PKDREJ	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000130943		0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	56	0.00	0	A	NM_006071		46655510	46655510	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	missense	73	12.05	10	SNP	0.998	C
PKDREJ	10343	genome.wustl.edu	37	22	46656456	46656456	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:46656456C>T	ENST00000253255.5	-	1	2763	c.2764G>A	c.(2764-2766)Gaa>Aaa	p.E922K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	922					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAAGTGTTTTCCTGATCATTT	0.438																																						dbGAP											0													121.0	129.0	126.0					22																	46656456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2764G>A	22.37:g.46656456C>T	ENSP00000253255:p.Glu922Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.E922K	ENST00000253255.5	37	c.2764	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039723	0.55003	.	.	ENSG00000130943	ENST00000253255	T	0.38887	1.11	5.33	4.29	0.51040	.	0.920980	0.09138	N	0.843382	T	0.32194	0.0821	L	0.53249	1.67	0.09310	N	1	P	0.45126	0.851	B	0.37550	0.253	T	0.14200	-1.0481	10	0.15952	T	0.53	-4.8175	4.6483	0.12582	0.1593:0.6054:0.1537:0.0816	.	922	Q9NTG1	PKDRE_HUMAN	K	922	ENSP00000253255:E922K	ENSP00000253255:E922K	E	-	1	0	PKDREJ	45035120	0.003000	0.15002	0.002000	0.10522	0.089000	0.18198	1.198000	0.32223	1.375000	0.46248	0.655000	0.94253	GAA	PKDREJ	-	NULL	ENSG00000130943		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	39	0.00	0	C	NM_006071		46656456	46656456	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.001	T
PKHD1	5314	genome.wustl.edu	37	6	51776705	51776705	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:51776705A>C	ENST00000371117.3	-	39	6657	c.6382T>G	c.(6382-6384)Tta>Gta	p.L2128V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2128V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2128					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGGCCTTTAAAATATGGTGC	0.443																																						dbGAP											0													73.0	74.0	73.0					6																	51776705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6382T>G	6.37:g.51776705A>C	ENSP00000360158:p.Leu2128Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.L2128V	ENST00000371117.3	37	c.6382	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763766	0.31228	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91407	-2.84;-2.84	6.06	1.13	0.20643	.	0.199426	0.33895	N	0.004446	D	0.82834	0.5123	M	0.85041	2.73	0.09310	N	1	P;P;P	0.48694	0.914;0.828;0.914	B;B;B	0.41374	0.355;0.234;0.283	T	0.75414	-0.3326	10	0.33940	T	0.23	.	7.9039	0.29750	0.6623:0.0:0.3377:0.0	.	2128;2128;2128	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2128	ENSP00000360158:L2128V;ENSP00000341097:L2128V	ENSP00000341097:L2128V	L	-	1	2	PKHD1	51884664	0.035000	0.19736	0.031000	0.17742	0.262000	0.26303	0.685000	0.25378	0.181000	0.19994	0.533000	0.62120	TTA	PKHD1	-	NULL	ENSG00000170927		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	183	0.00	0	A	NM_138694		51776705	51776705	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	133	14.19	22	SNP	0.049	C
PKHD1	5314	genome.wustl.edu	37	6	51910861	51910861	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:51910861C>T	ENST00000371117.3	-	24	2808	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E845K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	845					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACACGTGTTCGTAGCAAGTG	0.473																																						dbGAP											0													150.0	126.0	134.0					6																	51910861		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2533G>A	6.37:g.51910861C>T	ENSP00000360158:p.Glu845Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.E845K	ENST00000371117.3	37	c.2533	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617790	0.46736	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87334	-2.04;-2.24	6.02	5.1	0.69264	.	0.295889	0.34314	N	0.004066	D	0.84110	0.5400	M	0.72479	2.2	0.28784	N	0.899659	D;D	0.62365	0.991;0.991	P;P	0.49301	0.606;0.557	T	0.79009	-0.1978	10	0.35671	T	0.21	.	12.4388	0.55614	0.0:0.8321:0.1679:0.0	.	845;845	P08F94-2;P08F94	.;PKHD1_HUMAN	K	845	ENSP00000360158:E845K;ENSP00000341097:E845K	ENSP00000341097:E845K	E	-	1	0	PKHD1	52018820	0.843000	0.29541	0.975000	0.42487	0.045000	0.14185	0.988000	0.29616	2.865000	0.98341	0.655000	0.94253	GAA	PKHD1	-	NULL	ENSG00000170927		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	212	0.00	0	C	NM_138694		51910861	51910861	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	126	24.55	41	SNP	0.977	T
PKHD1L1	93035	genome.wustl.edu	37	8	110437359	110437359	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:110437359A>C	ENST00000378402.5	+	24	2847	c.2743A>C	c.(2743-2745)Aat>Cat	p.N915H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	915					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGGAAATAATTGGCCAGG	0.338										HNSCC(38;0.096)																												dbGAP											0													52.0	51.0	51.0					8																	110437359		1831	4087	5918	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2743A>C	8.37:g.110437359A>C	ENSP00000367655:p.Asn915His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.N915H	ENST00000378402.5	37	c.2743	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895496	0.33442	.	.	ENSG00000205038	ENST00000378402	D	0.85861	-2.04	5.16	3.96	0.45880	.	0.406753	0.23413	N	0.048441	D	0.85923	0.5810	M	0.72118	2.19	0.22446	N	0.999097	D	0.57571	0.98	P	0.50440	0.641	T	0.77512	-0.2560	10	0.44086	T	0.13	.	8.3573	0.32338	0.8248:0.0:0.0:0.1752	.	915	Q86WI1	PKHL1_HUMAN	H	915	ENSP00000367655:N915H	ENSP00000367655:N915H	N	+	1	0	PKHD1L1	110506535	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.990000	0.49401	0.849000	0.35215	0.455000	0.32223	AAT	PKHD1L1	-	NULL	ENSG00000205038		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	141	0.00	0	A	NM_177531		110437359	110437359	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	1.000	C
PKHD1L1	93035	genome.wustl.edu	37	8	110509426	110509426	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:110509426A>G	ENST00000378402.5	+	65	10628	c.10524A>G	c.(10522-10524)ggA>ggG	p.G3508G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3508					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGACAATGGAATGGCCATTT	0.343										HNSCC(38;0.096)																												dbGAP											0													120.0	112.0	114.0					8																	110509426		1851	4096	5947	-	-	-	SO:0001819	synonymous_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10524A>G	8.37:g.110509426A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G3508	ENST00000378402.5	37	c.10524	CCDS47911.1	8																																																																																			PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000205038		0.343	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	307	0.32	1	A	NM_177531		110509426	110509426	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	silent	193	16.74	39	SNP	0.976	G
PKHD1L1	93035	genome.wustl.edu	37	8	110520337	110520337	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:110520337G>A	ENST00000378402.5	+	70	11343	c.11239G>A	c.(11239-11241)Gat>Aat	p.D3747N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3747					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTATTAGAGATTCAACCTG	0.333										HNSCC(38;0.096)																												dbGAP											0													106.0	101.0	102.0					8																	110520337		1825	4076	5901	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11239G>A	8.37:g.110520337G>A	ENSP00000367655:p.Asp3747Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D3747N	ENST00000378402.5	37	c.11239	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504492	0.44558	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85773	-2.03;-1.84	5.71	5.71	0.89125	.	0.321386	0.31542	N	0.007480	T	0.78266	0.4256	L	0.43152	1.355	0.25679	N	0.985819	P	0.36144	0.539	B	0.31547	0.132	T	0.66779	-0.5837	10	0.09590	T	0.72	.	17.3443	0.87306	0.0:0.0:1.0:0.0	.	3747	Q86WI1	PKHL1_HUMAN	N	3747;675	ENSP00000367655:D3747N;ENSP00000437376:D675N	ENSP00000367655:D3747N	D	+	1	0	PKHD1L1	110589513	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.591000	0.61019	2.688000	0.91661	0.655000	0.94253	GAT	PKHD1L1	-	NULL	ENSG00000205038		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	320	0.00	0	G	NM_177531		110520337	110520337	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	174	20.91	46	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110520386	110520386	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:110520386G>T	ENST00000378402.5	+	70	11392	c.11288G>T	c.(11287-11289)gGg>gTg	p.G3763V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3763					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGTGCTTTGGGATGGAATAT	0.378										HNSCC(38;0.096)																												dbGAP											0													170.0	164.0	166.0					8																	110520386		1850	4105	5955	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11288G>T	8.37:g.110520386G>T	ENSP00000367655:p.Gly3763Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G3763V	ENST00000378402.5	37	c.11288	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674248	0.88445	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.88277	-2.36;-2.21	6.17	6.17	0.99709	.	0.116144	0.56097	D	0.000023	D	0.94594	0.8258	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.94415	0.7635	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	3763	Q86WI1	PKHL1_HUMAN	V	3763;691	ENSP00000367655:G3763V;ENSP00000437376:G691V	ENSP00000367655:G3763V	G	+	2	0	PKHD1L1	110589562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.457000	0.73505	2.941000	0.99782	0.655000	0.94253	GGG	PKHD1L1	-	NULL	ENSG00000205038		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	451	0.00	0	G	NM_177531		110520386	110520386	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	224	28.43	89	SNP	1.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110530483	110530483	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:110530483G>A	ENST00000378402.5	+	73	11881	c.11777G>A	c.(11776-11778)gGa>gAa	p.G3926E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3926					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGTTAAAGGAACTATACCT	0.373										HNSCC(38;0.096)																												dbGAP											0													116.0	110.0	112.0					8																	110530483		1863	4089	5952	-	-	-	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11777G>A	8.37:g.110530483G>A	ENSP00000367655:p.Gly3926Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G3926E	ENST00000378402.5	37	c.11777	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815749	0.90790	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.95377	-3.69;-3.44	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97857	0.9296	M	0.86178	2.8	0.51233	D	0.999917	D	0.76494	0.999	D	0.74023	0.982	D	0.98368	1.0552	10	0.87932	D	0	.	17.5701	0.87933	0.0:0.0:1.0:0.0	.	3926	Q86WI1	PKHL1_HUMAN	E	3926;854	ENSP00000367655:G3926E;ENSP00000437376:G854E	ENSP00000367655:G3926E	G	+	2	0	PKHD1L1	110599659	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.378000	0.90144	2.756000	0.94617	0.655000	0.94253	GGA	PKHD1L1	-	NULL	ENSG00000205038		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	209	0.00	0	G	NM_177531		110530483	110530483	+1	no_errors	ENST00000378402	ensembl	human	known	69_37n	missense	176	10.66	21	SNP	1.000	A
PKIG	11142	genome.wustl.edu	37	20	43243275	43243275	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43243275C>T	ENST00000372889.1	+	5	663	c.78C>T	c.(76-78)atC>atT	p.I26I	PKIG_ENST00000372891.3_Silent_p.I26I|PKIG_ENST00000372887.1_Silent_p.I26I|PKIG_ENST00000372882.3_Silent_p.I26I|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372886.1_Silent_p.I26I|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000349959.3_Silent_p.I26I|PKIG_ENST00000372892.3_Silent_p.I26I|PKIG_ENST00000372894.3_Silent_p.I26I	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	26					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			TCCCTGACATCCAGGGAGACT	0.622																																						dbGAP											0													101.0	86.0	91.0					20																	43243275		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.78C>T	20.37:g.43243275C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_cAMP_dep_PKI	p.I26	ENST00000372889.1	37	c.78	CCDS13334.1	20																																																																																			PKIG	-	pfam_cAMP_dep_PKI	ENSG00000168734		0.622	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PKIG	HGNC	protein_coding	OTTHUMT00000127804.1	254	0.00	0	C			43243275	43243275	+1	no_errors	ENST00000349959	ensembl	human	known	69_37n	silent	189	15.04	34	SNP	1.000	T
PKN2	5586	genome.wustl.edu	37	1	89237460	89237460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:89237460G>T	ENST00000370521.3	+	6	1242	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	PKN2_ENST00000370513.5_Nonsense_Mutation_p.E295*|PKN2_ENST00000370505.3_Nonsense_Mutation_p.E138*|PKN2_ENST00000316005.7_Nonsense_Mutation_p.E295*	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	295					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TATTATTGAAGAACTTTCACT	0.363																																						dbGAP											0													81.0	76.0	78.0					1																	89237460		1876	4105	5981	-	-	-	SO:0001587	stop_gained	0			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.883G>T	1.37:g.89237460G>T	ENSP00000359552:p.Glu295*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.E295*	ENST00000370521.3	37	c.883	CCDS714.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.693279|6.693279	0.97768|0.97768	.|.	.|.	ENSG00000065243|ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513|ENST00000436111	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.45126|.	U|.	0.000385|.	.|T	.|0.68705	.|0.3030	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67476	.|-0.5661	.|4	0.87932|.	D|.	0|.	.|.	18.7651|18.7651	0.91869|0.91869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	295;295;138;295|76	.|.	ENSP00000317851:E295X|.	E|R	+|+	1|2	0|0	PKN2|PKN2	89010048|89010048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	9.317000|9.317000	0.96327|0.96327	2.512000|2.512000	0.84698|0.84698	0.655000|0.655000	0.94253|0.94253	GAA|AGA	PKN2	-	NULL	ENSG00000065243		0.363	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	144	0.00	0	G	NM_006256		89237460	89237460	+1	no_errors	ENST00000370521	ensembl	human	known	69_37n	nonsense	91	16.51	18	SNP	1.000	T
PKN2	5586	genome.wustl.edu	37	1	89299076	89299076	+	Missense_Mutation	SNP	C	C	T	rs200905692		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:89299076C>T	ENST00000370521.3	+	22	3259	c.2900C>T	c.(2899-2901)tCg>tTg	p.S967L	PKN2_ENST00000495119.1_3'UTR|PKN2_ENST00000370513.5_Missense_Mutation_p.S919L|PKN2_ENST00000370505.3_Missense_Mutation_p.S810L|PKN2_ENST00000544045.1_Missense_Mutation_p.S641L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	967	AGC-kinase C-terminal.|Necessary for the catalytic activity.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGATACTTTCGGAAGAGGAG	0.418																																						dbGAP											0													89.0	88.0	88.0					1																	89299076		1958	4139	6097	-	-	-	SO:0001583	missense	0			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2900C>T	1.37:g.89299076C>T	ENSP00000359552:p.Ser967Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.S967L	ENST00000370521.3	37	c.2900	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705421	0.48412	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.84	4.92	0.64577	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.200547	0.24611	N	0.037058	T	0.43897	0.1268	M	0.73430	2.235	0.34748	D	0.731421	B;B;B	0.14012	0.009;0.004;0.001	B;B;B	0.17979	0.02;0.005;0.003	T	0.48833	-0.9000	10	0.40728	T	0.16	.	14.0583	0.64784	0.0:0.9267:0.0:0.0733	.	951;919;967	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	L	967;810;919;641	ENSP00000359552:S967L;ENSP00000359536:S810L;ENSP00000359544:S919L;ENSP00000439643:S641L	ENSP00000359536:S810L	S	+	2	0	PKN2	89071664	0.931000	0.31567	0.998000	0.56505	0.889000	0.51656	1.391000	0.34475	1.440000	0.47531	0.591000	0.81541	TCG	PKN2	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000065243		0.418	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	149	0.00	0	C	NM_006256		89299076	89299076	+1	no_errors	ENST00000370521	ensembl	human	known	69_37n	missense	104	22.96	31	SNP	1.000	T
PKP2	5318	genome.wustl.edu	37	12	32955343	32955343	+	Nonsense_Mutation	SNP	C	C	A	rs368986542		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:32955343C>A	ENST00000070846.6	-	11	2317	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	PKP2_ENST00000340811.4_Nonsense_Mutation_p.E721*	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	765					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.E765Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCACCAATTTCATTCTGCAGA	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	144.0	143.0					12																	32955343		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2293G>T	12.37:g.32955343C>A	ENSP00000070846:p.Glu765*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E765*	ENST00000070846.6	37	c.2293	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.198994	0.98129	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	.	.	.	4.85	4.85	0.62838	.	0.118257	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	0.585	17.9305	0.88996	0.0:1.0:0.0:0.0	.	.	.	.	X	721;765;765	.	ENSP00000070846:E765X	E	-	1	0	PKP2	32846610	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.094000	0.64523	2.388000	0.81334	0.643000	0.83706	GAA	PKP2	-	superfamily_ARM-type_fold	ENSG00000057294		0.443	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	96	0.00	0	C	NM_004572		32955343	32955343	-1	no_errors	ENST00000070846	ensembl	human	known	69_37n	nonsense	51	25.00	17	SNP	1.000	A
PKP2	5318	genome.wustl.edu	37	12	32994102	32994102	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:32994102C>A	ENST00000070846.6	-	7	1572	c.1548G>T	c.(1546-1548)aaG>aaT	p.K516N	PKP2_ENST00000340811.4_Missense_Mutation_p.K472N	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	516					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCATGAGATTCTTGAGTTTGT	0.438																																						dbGAP											0													153.0	149.0	150.0					12																	32994102		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1548G>T	12.37:g.32994102C>A	ENSP00000070846:p.Lys516Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K516N	ENST00000070846.6	37	c.1548	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774896	0.70107	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.52983	0.64;0.64	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.048272	0.85682	D	0.000000	T	0.71048	0.3294	M	0.87900	2.915	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.992	T	0.76236	-0.3033	10	0.87932	D	0	-1.9338	12.0537	0.53522	0.0:0.921:0.0:0.079	.	472;472;516	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	N	472;516;516	ENSP00000342800:K472N;ENSP00000070846:K516N	ENSP00000070846:K516N	K	-	3	2	PKP2	32885369	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.204000	0.42761	2.394000	0.81467	0.557000	0.71058	AAG	PKP2	-	superfamily_ARM-type_fold	ENSG00000057294		0.438	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	318	0.00	0	C	NM_004572		32994102	32994102	-1	no_errors	ENST00000070846	ensembl	human	known	69_37n	missense	179	27.24	67	SNP	1.000	A
PKP4	8502	genome.wustl.edu	37	2	159477851	159477851	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:159477851A>T	ENST00000389759.3	+	6	633	c.521A>T	c.(520-522)aAc>aTc	p.N174I	PKP4_ENST00000389757.3_Missense_Mutation_p.N174I	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	174					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAGGCAGACAACAGACAGCAG	0.448										HNSCC(62;0.18)																												dbGAP											0													137.0	115.0	122.0					2																	159477851		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.521A>T	2.37:g.159477851A>T	ENSP00000374409:p.Asn174Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.N174I	ENST00000389759.3	37	c.521	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	A	13.54	2.269186	0.40095	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.73681	-0.76;-0.77	5.49	0.236	0.15471	.	0.479957	0.25280	N	0.031808	T	0.44477	0.1295	N	0.08118	0	0.23421	N	0.997711	B;B;B;B	0.25105	0.04;0.02;0.037;0.118	B;B;B;B	0.20384	0.017;0.013;0.004;0.029	T	0.26573	-1.0099	10	0.45353	T	0.12	-3.0895	0.2585	0.00215	0.3544:0.2284:0.198:0.2192	.	26;174;174;26	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	I	26;174;174	ENSP00000374407:N174I;ENSP00000374409:N174I	ENSP00000374407:N174I	N	+	2	0	PKP4	159186097	0.356000	0.24930	0.802000	0.32245	0.992000	0.81027	0.922000	0.28734	-0.110000	0.12022	0.533000	0.62120	AAC	PKP4	-	NULL	ENSG00000144283		0.448	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	265	0.00	0	A			159477851	159477851	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	missense	202	12.12	28	SNP	0.573	T
PKP4	8502	genome.wustl.edu	37	2	159526290	159526290	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:159526290C>T	ENST00000389759.3	+	17	2899	c.2787C>T	c.(2785-2787)gtC>gtT	p.V929V	PKP4_ENST00000389757.3_Silent_p.V929V|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	929					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCCCCAGTGTCTTGTCTGATG	0.557										HNSCC(62;0.18)																												dbGAP											0													48.0	51.0	50.0					2																	159526290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2787C>T	2.37:g.159526290C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V929	ENST00000389759.3	37	c.2787	CCDS33305.1	2																																																																																			PKP4	-	superfamily_ARM-type_fold	ENSG00000144283		0.557	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	54	0.00	0	C			159526290	159526290	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.191	T
PKP4	8502	genome.wustl.edu	37	2	159533298	159533298	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:159533298C>T	ENST00000389759.3	+	20	3287	c.3175C>T	c.(3175-3177)Cgc>Tgc	p.R1059C	AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Intron|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1059					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.R1059C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGAGACCCTCGCTCTGAATA	0.522										HNSCC(62;0.18)																												dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											139.0	131.0	134.0					2																	159533298		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3175C>T	2.37:g.159533298C>T	ENSP00000374409:p.Arg1059Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1059C	ENST00000389759.3	37	c.3175	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557554	0.86231	.	.	ENSG00000144283	ENST00000389759	T	0.75704	-0.96	6.17	6.17	0.99709	.	0.240076	0.44285	D	0.000465	T	0.75774	0.3895	L	0.44542	1.39	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.47528	0.549;0.549	T	0.76961	-0.2765	10	0.66056	D	0.02	-7.8864	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1014;1059	Q4W5T8;Q99569	.;PKP4_HUMAN	C	1059	ENSP00000374409:R1059C	ENSP00000374409:R1059C	R	+	1	0	PKP4	159241544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.552000	0.60747	2.941000	0.99782	0.655000	0.94253	CGC	PKP4	-	NULL	ENSG00000144283		0.522	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	230	0.00	0	C			159533298	159533298	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	missense	151	15.56	28	SNP	1.000	T
PLA2G4A	5321	genome.wustl.edu	37	1	186915853	186915853	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186915853T>G	ENST00000367466.3	+	11	1270	c.1118T>G	c.(1117-1119)tTt>tGt	p.F373C	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F313C	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	373	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGCAAATTTTTTATGGGAACA	0.318																																						dbGAP											0													80.0	80.0	80.0					1																	186915853		2203	4299	6502	-	-	-	SO:0001583	missense	0			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1118T>G	1.37:g.186915853T>G	ENSP00000356436:p.Phe373Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.F373C	ENST00000367466.3	37	c.1118	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296421	0.81025	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05139	3.49;3.49	5.91	5.91	0.95273	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.04307	-1.0961	10	0.87932	D	0	-20.2417	15.5295	0.75942	0.0:0.0:0.0:1.0	.	313;373	E7EU42;P47712	.;PA24A_HUMAN	C	373;313	ENSP00000356436:F373C;ENSP00000406892:F313C	ENSP00000356436:F373C	F	+	2	0	PLA2G4A	185182476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.963000	0.63694	2.254000	0.74563	0.533000	0.62120	TTT	PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000116711		0.318	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	380	0.00	0	T	NM_024420		186915853	186915853	+1	no_errors	ENST00000367466	ensembl	human	known	69_37n	missense	233	21.81	65	SNP	1.000	G
PLA2G4D	283748	genome.wustl.edu	37	15	42364096	42364096	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42364096G>T	ENST00000290472.3	-	15	1543	c.1449C>A	c.(1447-1449)ttC>ttA	p.F483L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	483	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CATAGGGGGAGAACTCAACCC	0.617																																						dbGAP											0													35.0	32.0	33.0					15																	42364096		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1449C>A	15.37:g.42364096G>T	ENSP00000290472:p.Phe483Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.F483L	ENST00000290472.3	37	c.1449	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002738	0.54254	.	.	ENSG00000159337	ENST00000290472	T	0.08008	3.14	4.66	3.74	0.42951	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	D	0.000002	T	0.35480	0.0933	M	0.92317	3.295	0.48341	D	0.999639	D	0.71674	0.998	D	0.74348	0.983	T	0.44360	-0.9333	10	0.72032	D	0.01	-23.386	12.5319	0.56120	0.0827:0.0:0.9173:0.0	.	483	Q86XP0	PA24D_HUMAN	L	483	ENSP00000290472:F483L	ENSP00000290472:F483L	F	-	3	2	PLA2G4D	40151388	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	1.299000	0.33424	0.957000	0.37930	0.462000	0.41574	TTC	PLA2G4D	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.617	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	60	0.00	0	G	NM_178034		42364096	42364096	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	T
PLA2G7	7941	genome.wustl.edu	37	6	46679243	46679243	+	Missense_Mutation	SNP	C	C	T	rs201567357		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46679243C>T	ENST00000274793.7	-	7	849	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	PLA2G7_ENST00000541026.1_Missense_Mutation_p.R91Q|PLA2G7_ENST00000538237.1_Missense_Mutation_p.R173Q|PLA2G7_ENST00000537365.1_Missense_Mutation_p.R218Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	218					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTGCTCATTTCGTATATGTGT	0.413																																						dbGAP											0													289.0	253.0	265.0					6																	46679243		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.653G>A	6.37:g.46679243C>T	ENSP00000274793:p.Arg218Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF	p.R218Q	ENST00000274793.7	37	c.653	CCDS4917.1	6	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182409	0.78677	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.58	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.74647	2.275	0.34860	D	0.742476	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.65302	-0.6201	10	0.37606	T	0.19	.	12.1199	0.53885	0.0:0.9164:0.0:0.0836	.	91;173;218;218	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	Q	218;218;173;91	ENSP00000274793:R218Q;ENSP00000445666:R218Q;ENSP00000441416:R173Q;ENSP00000444164:R91Q	ENSP00000274793:R218Q	R	-	2	0	PLA2G7	46787202	0.996000	0.38824	0.626000	0.29213	0.103000	0.19146	2.949000	0.49074	1.338000	0.45544	0.561000	0.74099	CGA	PLA2G7	-	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF	ENSG00000146070		0.413	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G7	HGNC	protein_coding	OTTHUMT00000040802.1	898	0.00	0	C			46679243	46679243	-1	no_errors	ENST00000274793	ensembl	human	known	69_37n	missense	796	11.54	104	SNP	0.495	T
PLA2R1	22925	genome.wustl.edu	37	2	160803986	160803986	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:160803986G>T	ENST00000283243.7	-	26	4000	c.3794C>A	c.(3793-3795)tCt>tAt	p.S1265Y	PLA2R1_ENST00000460710.1_5'Flank|PLA2R1_ENST00000392771.1_Missense_Mutation_p.S1265Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1265	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TAGGACTGTAGAAAAACTGTA	0.363																																						dbGAP											0													119.0	121.0	121.0					2																	160803986		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3794C>A	2.37:g.160803986G>T	ENSP00000283243:p.Ser1265Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.S1265Y	ENST00000283243.7	37	c.3794	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775680	0.70107	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.20200	2.09;2.99	5.66	5.66	0.87406	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.295491	0.32608	N	0.005878	T	0.40040	0.1101	M	0.66560	2.04	0.40699	D	0.982467	P;D;D	0.89917	0.939;1.0;1.0	P;D;D	0.80764	0.682;0.994;0.972	T	0.21621	-1.0240	10	0.02654	T	1	.	16.3931	0.83546	0.0:0.0:0.8679:0.1321	.	1265;1265;1265	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	Y	1265	ENSP00000283243:S1265Y;ENSP00000376524:S1265Y	ENSP00000283243:S1265Y	S	-	2	0	PLA2R1	160512232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.300000	0.51834	2.830000	0.97506	0.585000	0.79938	TCT	PLA2R1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.363	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	301	0.33	1	G			160803986	160803986	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	missense	170	25.44	58	SNP	1.000	T
PLA2R1	22925	genome.wustl.edu	37	2	160873189	160873189	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:160873189C>A	ENST00000283243.7	-	9	1693	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R496I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	496	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTAAAAAAGTCTTTCTTCACA	0.393																																						dbGAP											0													115.0	110.0	112.0					2																	160873189		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1487G>T	2.37:g.160873189C>A	ENSP00000283243:p.Arg496Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R496I	ENST00000283243.7	37	c.1487	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	c	11.71	1.720269	0.30503	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.19669	2.13;2.13	5.5	1.18	0.20946	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.604659	0.17589	N	0.168826	T	0.16257	0.0391	L	0.48174	1.505	0.27213	N	0.959854	B;B;B	0.16802	0.005;0.007;0.019	B;B;B	0.23852	0.027;0.021;0.049	T	0.17561	-1.0365	10	0.45353	T	0.12	.	4.3662	0.11225	0.0823:0.208:0.5219:0.1878	.	496;496;496	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	I	496	ENSP00000283243:R496I;ENSP00000376524:R496I	ENSP00000283243:R496I	R	-	2	0	PLA2R1	160581435	0.384000	0.25164	0.627000	0.29227	0.697000	0.40408	-0.149000	0.10204	0.291000	0.22468	-0.134000	0.14843	AGA	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.393	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	332	0.30	1	C			160873189	160873189	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	missense	278	10.58	33	SNP	0.242	A
PLAT	5327	genome.wustl.edu	37	8	42045454	42045454	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:42045454C>T	ENST00000220809.4	-	5	590	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PLAT_ENST00000519510.1_Missense_Mutation_p.E112K|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.E66K|PLAT_ENST00000270189.6_Missense_Mutation_p.E112K|PLAT_ENST00000524009.1_Missense_Mutation_p.E112K|PLAT_ENST00000429089.2_Missense_Mutation_p.E112K	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	112	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCAAATCCTTCGGGGCACTGG	0.552																																						dbGAP											0													113.0	103.0	106.0					8																	42045454		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.334G>A	8.37:g.42045454C>T	ENSP00000220809:p.Glu112Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E112K	ENST00000220809.4	37	c.334	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	C	1.501	-0.551934	0.03996	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000524009;ENST00000520523;ENST00000521694	D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.73	2.55	0.30701	Kringle-like fold (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.810482	0.11749	N	0.533272	D	0.83418	0.5250	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.22003	0.006;0.063;0.021;0.007	B;B;B;B	0.16289	0.015;0.015;0.005;0.009	T	0.68599	-0.5366	10	0.07813	T	0.8	.	5.0886	0.14696	0.0:0.295:0.4351:0.2699	.	112;112;66;112	B4DN26;B4DV92;P00750-3;P00750	.;.;.;TPA_HUMAN	K	112;112;112;66;112;112;112;112	ENSP00000270189:E112K;ENSP00000392045:E112K;ENSP00000220809:E112K;ENSP00000270188:E66K;ENSP00000428886:E112K;ENSP00000429401:E112K;ENSP00000428797:E112K;ENSP00000429801:E112K	ENSP00000220809:E112K	E	-	1	0	PLAT	42164611	0.002000	0.14202	0.404000	0.26397	0.001000	0.01503	1.355000	0.34068	0.767000	0.33267	-0.175000	0.13238	GAA	PLAT	-	pfam_EGF-like_dom,superfamily_Kringle-like,pfscan_EG-like_dom	ENSG00000104368		0.552	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	140	0.00	0	C	NM_000930		42045454	42045454	-1	no_errors	ENST00000220809	ensembl	human	known	69_37n	missense	106	17.83	23	SNP	0.000	T
PLCB1	23236	genome.wustl.edu	37	20	8769281	8769281	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:8769281G>T	ENST00000338037.6	+	29	3217	c.3190G>T	c.(3190-3192)Gaa>Taa	p.E1064*	PLCB1_ENST00000378637.2_Splice_Site_p.E1064*|PLCB1_ENST00000378641.3_Splice_Site_p.E1064*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1064					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACTTCAGAGAAAAGAAAGA	0.333																																						dbGAP											0													57.0	56.0	56.0					20																	8769281		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3189-1G>T	20.37:g.8769281G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E1064*	ENST00000338037.6	37	c.3190	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	45	11.345575	0.99549	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.28	5.28	0.74379	.	0.745387	0.13258	N	0.401532	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2739	0.90077	0.0:0.0:1.0:0.0	.	.	.	.	X	1064;1064;1064;984;984	.	ENSP00000338185:E1064X	E	+	1	0	PLCB1	8717281	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.160000	0.94734	2.640000	0.89533	0.563000	0.77884	GAA	PLCB1	-	pirsf_PLC-beta,pfam_PLC-beta_C	ENSG00000182621		0.333	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	348	0.00	0	G		Nonsense_Mutation	8769281	8769281	+1	no_errors	ENST00000338037	ensembl	human	known	69_37n	nonsense	176	28.16	69	SNP	1.000	T
PLCB2	5330	genome.wustl.edu	37	15	40585831	40585831	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:40585831C>T	ENST00000260402.3	-	20	2405	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	PLCB2_ENST00000557821.1_Missense_Mutation_p.R715Q|PLCB2_ENST00000456256.2_Missense_Mutation_p.R719Q	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	719	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCTTAGTTCGATAGCGCCT	0.577																																						dbGAP											0													98.0	104.0	102.0					15																	40585831		2007	4183	6190	-	-	-	SO:0001583	missense	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2156G>A	15.37:g.40585831C>T	ENSP00000260402:p.Arg719Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R719Q	ENST00000260402.3	37	c.2156	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395151	0.83011	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.72394	-0.65;-0.65	4.7	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.382752	0.25236	N	0.032123	T	0.78604	0.4309	M	0.71581	2.175	0.80722	D	1	D;B;P	0.76494	0.999;0.433;0.953	P;B;B	0.57911	0.829;0.062;0.379	T	0.80165	-0.1496	10	0.59425	D	0.04	.	11.3334	0.49490	0.0:0.9168:0.0:0.0832	.	719;715;719	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	Q	719	ENSP00000260402:R719Q;ENSP00000411991:R719Q	ENSP00000260402:R719Q	R	-	2	0	PLCB2	38373123	1.000000	0.71417	0.999000	0.59377	0.664000	0.39144	3.874000	0.56101	2.442000	0.82660	0.542000	0.68232	CGA	PLCB2	-	pirsf_PLC-beta,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000137841		0.577	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	89	0.00	0	C			40585831	40585831	-1	no_errors	ENST00000260402	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	T
PLCB3	5331	genome.wustl.edu	37	11	64029069	64029069	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:64029069C>T	ENST00000540288.1	+	16	1948	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	PLCB3_ENST00000279230.6_Silent_p.F615F|PLCB3_ENST00000325234.5_Silent_p.F548F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	615	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACAAATGCTTCGAGATGTCGT	0.592																																						dbGAP											0													110.0	104.0	106.0					11																	64029069		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1845C>T	11.37:g.64029069C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F615	ENST00000540288.1	37	c.1845	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000149782		0.592	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	72	0.00	0	C			64029069	64029069	+1	no_errors	ENST00000279230	ensembl	human	known	69_37n	silent	115	12.12	16	SNP	0.846	T
PLCB4	5332	genome.wustl.edu	37	20	9351855	9351855	+	Intron	SNP	C	C	T	rs184366128	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:9351855C>T	ENST00000378493.1	+	7	518				PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378501.2_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000334005.3_Intron			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTCTTTTCTGCCCTAGTATTA	0.393													C|||	7	0.00139776	0.0	0.0	5008	,	,		17726	0.0069		0.0	False		,,,				2504	0.0					dbGAP											0													100.0	98.0	99.0					20																	9351855		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.504-6C>T	20.37:g.9351855C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	RNA	SNP	-	NULL	ENST00000378493.1	37	NULL	CCDS13105.1	20																																																																																			PLCB4	-	-	ENSG00000101333		0.393	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	309	0.00	0	C			9351855	9351855	+1	no_errors	ENST00000464199	ensembl	human	known	69_37n	rna	279	11.43	36	SNP	0.060	T
PLCB4	5332	genome.wustl.edu	37	20	9374234	9374234	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:9374234G>T	ENST00000378493.1	+	15	1338		c.e15-1		PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378501.2_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTCTCTCTAGCTTGAACCAG	0.478											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													73.0	74.0	74.0					20																	9374234		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1324-1G>T	20.37:g.9374234G>T		Somatic	656	WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Splice_Site	SNP	-	e15-1	ENST00000378493.1	37	c.1324-1	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231910	0.79688	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3114	0.98642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB4	9322234	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.145000	0.94634	2.793000	0.96121	0.650000	0.86243	.	PLCB4	-	-	ENSG00000101333		0.478	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	139	0.00	0	G		Intron	9374234	9374234	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	splice_site	124	10.79	15	SNP	1.000	T
PLCB4	5332	genome.wustl.edu	37	20	9376258	9376258	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:9376258C>T	ENST00000378493.1	+	16	1518	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	PLCB4_ENST00000414679.2_Silent_p.I501I|PLCB4_ENST00000278655.4_Silent_p.I501I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.I501I|PLCB4_ENST00000378473.3_Silent_p.I501I|PLCB4_ENST00000334005.3_Silent_p.I501I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	501					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGAGGAGATCGAAAGTGGTG	0.413																																						dbGAP											0													115.0	116.0	116.0					20																	9376258		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1503C>T	20.37:g.9376258C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I501	ENST00000378493.1	37	c.1503	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000101333		0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	193	0.00	0	C			9376258	9376258	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	silent	181	25.51	62	SNP	1.000	T
PLCB4	5332	genome.wustl.edu	37	20	9416242	9416242	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:9416242C>A	ENST00000378493.1	+	25	2539	c.2524C>A	c.(2524-2526)Ctc>Atc	p.L842I	PLCB4_ENST00000414679.2_Missense_Mutation_p.L854I|PLCB4_ENST00000278655.4_Missense_Mutation_p.L842I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.L842I|PLCB4_ENST00000378473.3_Missense_Mutation_p.L854I|PLCB4_ENST00000334005.3_Missense_Mutation_p.L842I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	842					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAGAAATTTCTCTCAATTAC	0.358																																						dbGAP											0													94.0	103.0	100.0					20																	9416242		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2524C>A	20.37:g.9416242C>A	ENSP00000367754:p.Leu842Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L842I	ENST00000378493.1	37	c.2524	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837070	0.50951	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22539	2.13;2.14;2.13;2.13;2.13;1.95	5.98	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.55481	1.735	0.54753	D	0.999985	P;P;P;P	0.52842	0.83;0.866;0.956;0.881	P;P;D;P	0.65010	0.49;0.686;0.931;0.593	T	0.05517	-1.0880	10	0.30854	T	0.27	.	10.0005	0.41927	0.0:0.8093:0.0:0.1907	.	854;689;842;842	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	842;854;842;842;842;690	ENSP00000334105:L842I;ENSP00000367734:L854I;ENSP00000278655:L842I;ENSP00000367754:L842I;ENSP00000367762:L842I;ENSP00000390616:L690I	ENSP00000278655:L842I	L	+	1	0	PLCB4	9364242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.697000	0.37784	1.540000	0.49301	0.650000	0.86243	CTC	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.358	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	189	0.00	0	C			9416242	9416242	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	166	13.02	25	SNP	1.000	A
PLCB4	5332	genome.wustl.edu	37	20	9416256	9416256	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:9416256A>C	ENST00000378493.1	+	25	2553	c.2538A>C	c.(2536-2538)gaA>gaC	p.E846D	PLCB4_ENST00000414679.2_Missense_Mutation_p.E858D|PLCB4_ENST00000278655.4_Missense_Mutation_p.E846D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E846D|PLCB4_ENST00000378473.3_Missense_Mutation_p.E858D|PLCB4_ENST00000334005.3_Missense_Mutation_p.E846D			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	846					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAATTACAGAAAAGAGAGCAG	0.368																																						dbGAP											0													99.0	107.0	104.0					20																	9416256		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2538A>C	20.37:g.9416256A>C	ENSP00000367754:p.Glu846Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E846D	ENST00000378493.1	37	c.2538	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	A	14.33	2.501767	0.44455	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.23552	2.11;2.09;2.1;2.1;2.11;1.9	5.92	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.41632	1.29	0.53688	D	0.99997	B;P;P;B	0.52842	0.11;0.724;0.956;0.166	B;B;D;B	0.65010	0.062;0.348;0.931;0.203	T	0.10636	-1.0621	10	0.19590	T	0.45	.	7.7441	0.28858	0.7739:0.0:0.2261:0.0	.	858;693;846;846	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	D	846;858;846;846;846;694	ENSP00000334105:E846D;ENSP00000367734:E858D;ENSP00000278655:E846D;ENSP00000367754:E846D;ENSP00000367762:E846D;ENSP00000390616:E694D	ENSP00000278655:E846D	E	+	3	2	PLCB4	9364256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.225000	0.51246	1.076000	0.40961	0.528000	0.53228	GAA	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.368	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	193	0.00	0	A			9416256	9416256	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	140	27.46	53	SNP	1.000	C
PLCE1	51196	genome.wustl.edu	37	10	96058234	96058234	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:96058234C>A	ENST00000371380.3	+	23	5501	c.5266C>A	c.(5266-5268)Cat>Aat	p.H1756N	PLCE1_ENST00000371385.3_Missense_Mutation_p.H1448N|PLCE1_ENST00000260766.3_Missense_Mutation_p.H1756N|PLCE1_ENST00000371375.1_Missense_Mutation_p.H1448N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1756	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.|Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAAATGTTATCATATCTCGTC	0.507																																						dbGAP											0													77.0	77.0	77.0					10																	96058234		1944	4143	6087	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5266C>A	10.37:g.96058234C>A	ENSP00000360431:p.His1756Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.H1756N	ENST00000371380.3	37	c.5266	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722747	0.89298	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.102571	0.64402	D	0.000003	T	0.78368	0.4272	L	0.48877	1.53	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.987	T	0.77070	-0.2724	10	0.46703	T	0.11	.	19.2195	0.93790	0.0:1.0:0.0:0.0	.	1740;1448;1756	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1756;1756;1448;1448	ENSP00000260766:H1756N;ENSP00000360431:H1756N;ENSP00000360438:H1448N;ENSP00000360426:H1448N	ENSP00000260766:H1756N	H	+	1	0	PLCE1	96048224	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.786000	0.85741	2.650000	0.89964	0.655000	0.94253	CAT	PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000138193		0.507	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	82	0.00	0	C	NM_016341		96058234	96058234	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	63	25.58	22	SNP	1.000	A
PLCG1	5335	genome.wustl.edu	37	20	39791337	39791337	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:39791337G>A	ENST00000373271.1	+	6	1058	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PLCG1_ENST00000244007.3_Missense_Mutation_p.R218H|PLCG1_ENST00000373272.2_Missense_Mutation_p.R218H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	218					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGCTGTACCGCAGCCTCATG	0.647																																						dbGAP											0													60.0	42.0	48.0					20																	39791337		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.653G>A	20.37:g.39791337G>A	ENSP00000362368:p.Arg218His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R218H	ENST00000373271.1	37	c.653	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376172	0.42105	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.44083	0.93;0.93;0.93	5.09	5.09	0.68999	EF-hand-like domain (1);	0.231598	0.42964	D	0.000628	T	0.35480	0.0933	L	0.45581	1.43	0.54753	D	0.999986	B;B	0.18610	0.029;0.013	B;B	0.11329	0.006;0.004	T	0.11179	-1.0598	10	0.23891	T	0.37	.	12.884	0.58032	0.0785:0.0:0.9215:0.0	.	218;218	P19174;A2A284	PLCG1_HUMAN;.	H	218	ENSP00000244007:R218H;ENSP00000362368:R218H;ENSP00000362369:R218H	ENSP00000244007:R218H	R	+	2	0	PLCG1	39224751	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.246000	0.65411	2.376000	0.81061	0.561000	0.74099	CGC	PLCG1	-	pirsf_PLC-gamma	ENSG00000124181		0.647	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	106	0.93	1	G	NM_182811		39791337	39791337	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	missense	65	19.51	16	SNP	1.000	A
PLCH1	23007	genome.wustl.edu	37	3	155203258	155203258	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:155203258C>T	ENST00000340059.7	-	22	2884	c.2885G>A	c.(2884-2886)cGc>cAc	p.R962H	PLCH1_ENST00000334686.6_Missense_Mutation_p.R924H|PLCH1_ENST00000494598.1_Missense_Mutation_p.R942H|PLCH1_ENST00000414191.1_Missense_Mutation_p.R924H|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Missense_Mutation_p.R924H|PLCH1_ENST00000447496.2_Missense_Mutation_p.R962H	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	962					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCAAACTGCGTGTGGTCCT	0.483																																						dbGAP											0													154.0	144.0	147.0					3																	155203258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2885G>A	3.37:g.155203258C>T	ENSP00000345988:p.Arg962His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R962H	ENST00000340059.7	37	c.2885	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714809	0.89112	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.33438	1.86;1.78;1.41;1.78;1.78;1.78	5.88	5.88	0.94601	.	0.466331	0.20537	N	0.090385	T	0.55481	0.1923	L	0.57536	1.79	0.44395	D	0.997304	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.74674	0.984;0.964;0.738	T	0.52741	-0.8535	10	0.72032	D	0.01	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	924;962;962	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	H	942;924;962;962;924;924	ENSP00000419100:R942H;ENSP00000417502:R924H;ENSP00000402759:R962H;ENSP00000345988:R962H;ENSP00000335469:R924H;ENSP00000412977:R924H	ENSP00000335469:R924H	R	-	2	0	PLCH1	156685952	0.998000	0.40836	0.653000	0.29593	0.963000	0.63663	2.733000	0.47360	2.789000	0.95967	0.655000	0.94253	CGC	PLCH1	-	NULL	ENSG00000114805		0.483	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	173	0.00	0	C	NM_014996		155203258	155203258	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	missense	99	11.50	13	SNP	0.987	T
PLCL1	5334	genome.wustl.edu	37	2	198950526	198950526	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:198950526C>T	ENST00000428675.1	+	2	2683	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S664L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	762	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCGGATTGTTCGGAACAAAGA	0.423																																						dbGAP											0													84.0	80.0	81.0					2																	198950526		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2285C>T	2.37:g.198950526C>T	ENSP00000402861:p.Ser762Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S762L	ENST00000428675.1	37	c.2285	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	11.13	1.549166	0.27652	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.69926	-0.44;-0.44	5.36	4.48	0.54585	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.641681	0.14625	N	0.308147	T	0.53706	0.1813	N	0.25647	0.755	0.27454	N	0.953348	B;B	0.31227	0.314;0.205	B;B	0.26202	0.067;0.042	T	0.40794	-0.9544	9	.	.	.	.	16.4683	0.84092	0.0:0.8693:0.1307:0.0	.	762;688	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	762;664	ENSP00000402861:S762L;ENSP00000414138:S664L	.	S	+	2	0	PLCL1	198658771	0.995000	0.38212	0.096000	0.21009	0.968000	0.65278	3.868000	0.56055	1.474000	0.48178	0.561000	0.74099	TCG	PLCL1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000115896		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	198	0.00	0	C	NM_006226		198950526	198950526	+1	no_errors	ENST00000428675	ensembl	human	known	69_37n	missense	125	11.89	17	SNP	0.717	T
PLCL2	23228	genome.wustl.edu	37	3	17051308	17051308	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:17051308G>T	ENST00000418129.2	+	2	557	c.92G>T	c.(91-93)aGa>aTa	p.R31I	PLCL2_ENST00000432376.1_Missense_Mutation_p.R31I|PLCL2_ENST00000396755.2_Missense_Mutation_p.R31I|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	157	Gly-rich.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCCAACTCTAGAATTTATCAT	0.413																																						dbGAP											0													66.0	64.0	65.0					3																	17051308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.92G>T	3.37:g.17051308G>T	ENSP00000409637:p.Arg31Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R31I	ENST00000418129.2	37	c.92	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796677	0.70567	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.63580	-0.05;-0.05;-0.05	5.73	5.73	0.89815	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.43579	D	0.000543	T	0.80889	0.4710	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80589	-0.1315	9	0.51188	T	0.08	.	19.8778	0.96885	0.0:0.0:1.0:0.0	.	157;31	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	I	31;158;31;31	ENSP00000409637:R31I;ENSP00000379979:R31I;ENSP00000412836:R31I	ENSP00000285094:R158I	R	+	2	0	PLCL2	17026312	1.000000	0.71417	0.563000	0.28383	0.775000	0.43874	9.869000	0.99810	2.709000	0.92574	0.491000	0.48974	AGA	PLCL2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000154822		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	101	0.00	0	G			17051308	17051308	+1	no_errors	ENST00000418129	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	0.992	T
PLCXD1	55344	genome.wustl.edu	37	X	209789	209789	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:209789G>A	ENST00000381657.2	+	6	1151	c.637G>A	c.(637-639)Gag>Aag	p.E213K	PLCXD1_ENST00000381663.3_Missense_Mutation_p.E213K|PLCXD1_ENST00000399012.1_Missense_Mutation_p.E213K	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	213					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGGCACCACGAGCTGTGGCC	0.637																																						dbGAP											0													95.0	88.0	91.0					X																	209789		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.637G>A	X.37:g.209789G>A	ENSP00000371073:p.Glu213Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BH51|A2BH52	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.E213K	ENST00000381657.2	37	c.637	CCDS14103.1	X	.	.	.	.	.	.	.	.	.	.	.	11.44	1.638516	0.29157	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.30448	1.53;1.53;1.53	1.26	1.26	0.21427	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.416503	0.24652	U	0.036719	T	0.25644	0.0624	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.47626	0.552	T	0.11203	-1.0597	9	0.29301	T	0.29	.	8.0738	0.30704	0.0:0.0:1.0:0.0	.	213	Q9NUJ7	PLCX1_HUMAN	K	213	ENSP00000381976:E213K;ENSP00000371073:E213K;ENSP00000371079:E213K	ENSP00000371073:E213K	E	+	1	0	PLCXD1	149789	1.000000	0.71417	0.588000	0.28705	0.331000	0.28603	5.722000	0.68485	0.666000	0.31087	0.394000	0.25966	GAG	PLCXD1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182378		0.637	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLCXD1	HGNC	protein_coding	OTTHUMT00000058879.2	54	0.00	0	G	NM_018390		209789	209789	+1	no_errors	ENST00000381657	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.994	A
PLCXD3	345557	genome.wustl.edu	37	5	41382049	41382049	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41382049C>T	ENST00000377801.3	-	2	765	c.691G>A	c.(691-693)Gca>Aca	p.A231T	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A231T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	231					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGATGGATGCTTGAAGAAAC	0.537																																						dbGAP											0													66.0	71.0	69.0					5																	41382049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.691G>A	5.37:g.41382049C>T	ENSP00000367032:p.Ala231Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.A231T	ENST00000377801.3	37	c.691	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	C	5.118	0.207452	0.09704	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	5.19	0.71726	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.096275	0.64402	N	0.000001	T	0.24392	0.0591	N	0.03071	-0.42	0.58432	D	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.10776	-1.0615	9	0.13108	T	0.6	-14.0643	8.554	0.33469	0.2755:0.6559:0.0:0.0686	.	231	Q63HM9	PLCX3_HUMAN	T	231	.	ENSP00000333751:A231T	A	-	1	0	PLCXD3	41417806	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.407000	0.34657	1.534000	0.49203	0.655000	0.94253	GCA	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182836		0.537	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	242	0.00	0	C	XM_293875		41382049	41382049	-1	no_errors	ENST00000328457	ensembl	human	known	69_37n	missense	163	14.51	28	SNP	1.000	T
PLCXD3	345557	genome.wustl.edu	37	5	41382379	41382379	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:41382379C>A	ENST00000377801.3	-	2	435	c.361G>T	c.(361-363)Gtc>Ttc	p.V121F	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V121F			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	121	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCTTCATTGACTTTGGCACTG	0.433																																						dbGAP											0													109.0	108.0	108.0					5																	41382379		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.361G>T	5.37:g.41382379C>A	ENSP00000367032:p.Val121Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.V121F	ENST00000377801.3	37	c.361	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495932	0.85069	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.52526	0.66;0.66	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.052500	0.85682	D	0.000000	T	0.53674	0.1811	L	0.41824	1.3	0.80722	D	1	D	0.55385	0.971	P	0.51193	0.662	T	0.45323	-0.9269	10	0.42905	T	0.14	-12.5901	20.6593	0.99626	0.0:1.0:0.0:0.0	.	121	Q63HM9	PLCX3_HUMAN	F	121	ENSP00000367032:V121F;ENSP00000333751:V121F	ENSP00000333751:V121F	V	-	1	0	PLCXD3	41418136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.885000	0.99019	0.655000	0.94253	GTC	PLCXD3	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000182836		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	298	0.00	0	C	XM_293875		41382379	41382379	-1	no_errors	ENST00000328457	ensembl	human	known	69_37n	missense	193	16.09	37	SNP	1.000	A
PLCZ1	89869	genome.wustl.edu	37	12	18852748	18852748	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:18852748C>T	ENST00000538330.1	-	6	881	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.R248Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R190Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R383Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R192Q|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R385Q					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGAAAGTTTTCGGGCTTGTGT	0.313																																						dbGAP											0													45.0	50.0	48.0					12																	18852748		2202	4295	6497	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.500G>A	12.37:g.18852748C>T	ENSP00000445880:p.Arg167Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R385Q	ENST00000538330.1	37	c.1154		12	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508341	0.64410	.	.	ENSG00000139151	ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000541695;ENST00000539875;ENST00000540421;ENST00000543242	T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;0.65	5.88	5.88	0.94601	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.073364	0.56097	D	0.000032	T	0.59280	0.2182	L	0.35854	1.095	0.40273	D	0.978307	P;P	0.50617	0.937;0.933	B;B	0.42555	0.328;0.391	T	0.58358	-0.7650	10	0.27082	T	0.32	.	16.9709	0.86298	0.0:1.0:0.0:0.0	.	385;167	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	Q	167;385;383;190;248;192;120;126	ENSP00000445880:R167Q;ENSP00000266505:R385Q;ENSP00000402358:R383Q;ENSP00000400504:R190Q;ENSP00000443349:R248Q;ENSP00000445026:R192Q;ENSP00000445889:R120Q;ENSP00000443762:R126Q	ENSP00000266505:R385Q	R	-	2	0	PLCZ1	18744015	0.993000	0.37304	0.995000	0.50966	0.990000	0.78478	1.113000	0.31184	2.779000	0.95612	0.650000	0.86243	CGA	PLCZ1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000139151		0.313	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	148	0.00	0	C	NM_033123		18852748	18852748	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	missense	61	25.61	21	SNP	0.998	T
PLCZ1	89869	genome.wustl.edu	37	12	18876251	18876251	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:18876251C>T	ENST00000266505.7	-	4	624	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E119K|PLCZ1_ENST00000539875.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATACCTTCTTCGATAGGCTCG	0.294																																						dbGAP											0													70.0	64.0	66.0					12																	18876251		2201	4297	6498	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.361G>A	12.37:g.18876251C>T	ENSP00000266505:p.Glu121Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E121K	ENST00000266505.7	37	c.361	CCDS8680.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286585	0.80803	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541966	T;T;T	0.48836	0.8;0.8;0.8	5.15	5.15	0.70609	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.586697	0.17921	N	0.157489	T	0.53142	0.1778	M	0.62723	1.935	0.80722	D	1	P	0.51933	0.949	P	0.47162	0.54	T	0.53844	-0.8381	10	0.39692	T	0.17	.	15.7694	0.78152	0.0:1.0:0.0:0.0	.	121	Q86YW0	PLCZ1_HUMAN	K	121;119;17	ENSP00000266505:E121K;ENSP00000402358:E119K;ENSP00000444383:E17K	ENSP00000266505:E121K	E	-	1	0	PLCZ1	18767518	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.367000	0.44213	2.394000	0.81467	0.655000	0.94253	GAA	PLCZ1	-	pfam_PLipase_C_EF-hand-like	ENSG00000139151		0.294	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401667.3	193	0.52	1	C	NM_033123		18876251	18876251	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	missense	162	10.00	18	SNP	1.000	T
PLCZ1	89869	genome.wustl.edu	37	12	18876393	18876393	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:18876393A>C	ENST00000266505.7	-	4	482	c.219T>G	c.(217-219)atT>atG	p.I73M	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.I71M|PLCZ1_ENST00000539875.1_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAATCTCAATAATTTCTTCTC	0.338																																						dbGAP											0													90.0	90.0	90.0					12																	18876393		2201	4299	6500	-	-	-	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.219T>G	12.37:g.18876393A>C	ENSP00000266505:p.Ile73Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.I73M	ENST00000266505.7	37	c.219	CCDS8680.1	12	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759297	0.49468	.	.	ENSG00000139151	ENST00000266505;ENST00000447925	T;T	0.27557	1.66;1.66	5.02	-0.215	0.13157	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.218549	0.38111	N	0.001818	T	0.41858	0.1177	M	0.85197	2.74	0.21861	N	0.999506	P	0.46784	0.884	P	0.53006	0.715	T	0.33369	-0.9871	10	0.72032	D	0.01	.	2.8213	0.05472	0.4983:0.0:0.1819:0.3199	.	73	Q86YW0	PLCZ1_HUMAN	M	73;71	ENSP00000266505:I73M;ENSP00000402358:I71M	ENSP00000266505:I73M	I	-	3	3	PLCZ1	18767660	0.141000	0.22595	0.045000	0.18777	0.756000	0.42949	0.177000	0.16801	-0.056000	0.13221	0.460000	0.39030	ATT	PLCZ1	-	pfam_PLipase_C_EF-hand-like	ENSG00000139151		0.338	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401667.3	241	0.00	0	A	NM_033123		18876393	18876393	-1	no_errors	ENST00000266505	ensembl	human	known	69_37n	missense	163	15.90	31	SNP	0.041	C
PLD1	5337	genome.wustl.edu	37	3	171405331	171405331	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:171405331T>G	ENST00000351298.4	-	15	1709	c.1583A>C	c.(1582-1584)aAa>aCa	p.K528T	PLD1_ENST00000356327.5_Missense_Mutation_p.K528T|PLD1_ENST00000340989.4_Missense_Mutation_p.K528T|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	528	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGGCTCATTTTTATCTTTGAG	0.368																																					NSCLC(149;2174 3517 34058)	dbGAP											0													102.0	101.0	101.0					3																	171405331		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1583A>C	3.37:g.171405331T>G	ENSP00000342793:p.Lys528Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.K528T	ENST00000351298.4	37	c.1583	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	T	3.158	-0.172806	0.06421	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.07444	3.33;3.35;3.19	5.03	2.45	0.29901	.	0.784816	0.12474	N	0.465755	T	0.03959	0.0111	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.005	B;B	0.15484	0.003;0.013	T	0.40213	-0.9575	10	0.22109	T	0.4	-9.5208	5.9921	0.19472	0.0:0.0902:0.1654:0.7444	.	551;528	Q59EA4;Q13393	.;PLD1_HUMAN	T	528	ENSP00000348681:K528T;ENSP00000342793:K528T;ENSP00000340326:K528T	ENSP00000340326:K528T	K	-	2	0	PLD1	172888025	0.486000	0.25980	0.869000	0.34112	0.051000	0.14879	1.159000	0.31749	0.875000	0.35847	0.460000	0.39030	AAA	PLD1	-	pirsf_PLipase_D_euk	ENSG00000075651		0.368	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	236	0.00	0	T	NM_002662		171405331	171405331	-1	no_errors	ENST00000351298	ensembl	human	known	69_37n	missense	154	27.01	57	SNP	0.983	G
PLEKHA4	57664	genome.wustl.edu	37	19	49340798	49340798	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:49340798C>A	ENST00000263265.6	-	20	2643	c.2088G>T	c.(2086-2088)ttG>ttT	p.L696F	HSD17B14_ENST00000599157.1_5'Flank|HSD17B14_ENST00000263278.4_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	696						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTGGGAGTCCAAATTTCCAC	0.647																																						dbGAP											0													26.0	30.0	29.0					19																	49340798		2192	4296	6488	-	-	-	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2088G>T	19.37:g.49340798C>A	ENSP00000263265:p.Leu696Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L696F	ENST00000263265.6	37	c.2088	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	c	23.1	4.369554	0.82463	.	.	ENSG00000105559	ENST00000263265	T	0.32515	1.45	3.98	3.98	0.46160	.	1.690050	0.03838	N	0.270065	T	0.37517	0.1006	L	0.27053	0.805	0.80722	D	1	D	0.58970	0.984	P	0.52109	0.69	T	0.17868	-1.0355	10	0.62326	D	0.03	.	11.8199	0.52232	0.0:1.0:0.0:0.0	.	696	Q9H4M7	PKHA4_HUMAN	F	696	ENSP00000263265:L696F	ENSP00000263265:L696F	L	-	3	2	PLEKHA4	54032610	0.033000	0.19621	0.390000	0.26220	0.621000	0.37620	0.053000	0.14184	2.248000	0.74166	0.299000	0.19835	TTG	PLEKHA4	-	NULL	ENSG00000105559		0.647	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	64	0.00	0	C			49340798	49340798	-1	no_errors	ENST00000263265	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.467	A
PLEKHA5	54477	genome.wustl.edu	37	12	19460462	19460462	+	Intron	SNP	C	C	T	rs188679281	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:19460462C>T	ENST00000299275.6	+	13	1851				PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000317589.4_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000429027.2_Intron|PLEKHA5_ENST00000359180.3_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGCCTAATTTCGGCTGCTATA	0.438													C|||	4	0.000798722	0.0	0.0029	5008	,	,		20511	0.0		0.002	False		,,,				2504	0.0				Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1846-13034C>T	12.37:g.19460462C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	RNA	SNP	-	NULL	ENST00000299275.6	37	NULL	CCDS8682.1	12																																																																																			PLEKHA5	-	-	ENSG00000052126		0.438	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	17	0.00	0	C	NM_019012		19460462	19460462	+1	no_errors	ENST00000510738	ensembl	human	known	69_37n	rna	23	34.29	12	SNP	1.000	T
PLEKHD1	400224	genome.wustl.edu	37	14	69951802	69951802	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:69951802C>T	ENST00000322564.7	+	1	332	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	40	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(1)|endometrium(1)|kidney(2)	4						AGAGGCCTTTCGGCAGGCCGT	0.701																																						dbGAP											0													42.0	43.0	42.0					14																	69951802		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.120C>T	14.37:g.69951802C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJC2	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F40	ENST00000322564.7	37	c.120	CCDS53903.1	14																																																																																			PLEKHD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000175985		0.701	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	47	0.00	0	C	NM_001161498		69951802	69951802	+1	no_errors	ENST00000322564	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	0.998	T
PLEKHG1	57480	genome.wustl.edu	37	6	151161666	151161666	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:151161666G>T	ENST00000358517.2	+	16	4003	c.3792G>T	c.(3790-3792)caG>caT	p.Q1264H	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1264H			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1264							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTGCAACACAGAATTATTTTT	0.393																																						dbGAP											0													79.0	80.0	79.0					6																	151161666		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3792G>T	6.37:g.151161666G>T	ENSP00000351318:p.Gln1264His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q1264H	ENST00000358517.2	37	c.3792	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818732	0.50633	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.65732	-0.17;-0.17	5.36	4.5	0.54988	.	0.113491	0.64402	D	0.000006	T	0.66973	0.2844	M	0.66939	2.045	0.35786	D	0.822028	D;D	0.89917	1.0;0.999	D;D	0.71184	0.972;0.921	T	0.73639	-0.3919	10	0.87932	D	0	.	10.1557	0.42820	0.0723:0.1357:0.7919:0.0	.	1071;1264	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	H	1264	ENSP00000356297:Q1264H;ENSP00000351318:Q1264H	ENSP00000351318:Q1264H	Q	+	3	2	PLEKHG1	151203359	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	2.454000	0.44979	1.400000	0.46741	-0.137000	0.14449	CAG	PLEKHG1	-	NULL	ENSG00000120278		0.393	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	172	0.00	0	G			151161666	151161666	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	missense	69	33.01	34	SNP	1.000	T
PLEKHG2	64857	genome.wustl.edu	37	19	39912766	39912766	+	Silent	SNP	C	C	T	rs200990352		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:39912766C>T	ENST00000409794.3	+	17	2365	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	PLEKHG2_ENST00000458508.2_Silent_p.S446S|PLEKHG2_ENST00000378550.1_Silent_p.S505S|PLEKHG2_ENST00000425673.1_Silent_p.S476S|PLEKHG2_ENST00000409797.2_Silent_p.S505S	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	505					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACGCTGGCAGCGAAGGGGAAC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17481	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													47.0	44.0	45.0					19																	39912766		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1515C>T	19.37:g.39912766C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A373V	ENST00000409794.3	37	c.1118	CCDS33022.2	19	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.555	0.103050	0.08731	.	.	ENSG00000090924	ENST00000205135	.	.	.	5.96	-2.51	0.06365	.	.	.	.	.	T	0.63034	0.2477	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61515	-0.7047	4	.	.	.	.	12.9614	0.58460	0.0:0.537:0.0:0.463	.	.	.	.	V	373	.	.	A	+	2	0	PLEKHG2	44604606	0.245000	0.23899	0.991000	0.47740	0.352000	0.29268	-1.047000	0.03521	-0.333000	0.08476	-0.781000	0.03364	GCG	PLEKHG2	-	NULL	ENSG00000090924		0.582	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	155	0.00	0	C	NM_022835		39912766	39912766	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000205135	ensembl	human	putative	69_37n	missense	104	13.93	17	SNP	0.973	T
PLEKHM1	9842	genome.wustl.edu	37	17	43535773	43535773	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:43535773G>T	ENST00000430334.3	-	6	1474	c.1341C>A	c.(1339-1341)ttC>ttA	p.F447L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.F358L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	447					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AAGGCCGGTAGAAGTCATCCT	0.498																																						dbGAP											0													40.0	39.0	39.0					17																	43535773		2203	4299	6502	-	-	-	SO:0001583	missense	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1341C>A	17.37:g.43535773G>T	ENSP00000389913:p.Phe447Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.F447L	ENST00000430334.3	37	c.1341	CCDS32671.1	17	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345980	0.24426	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.64991	-0.11;-0.13	4.12	3.15	0.36227	.	0.463835	0.23470	N	0.047834	T	0.59418	0.2192	M	0.65498	2.005	0.40849	D	0.98373	P;B	0.35272	0.493;0.361	B;B	0.37422	0.249;0.126	T	0.60949	-0.7161	10	0.48119	T	0.1	.	9.8713	0.41175	0.0993:0.0:0.9007:0.0	.	358;447	F8W648;Q9Y4G2	.;PKHM1_HUMAN	L	447;396;358	ENSP00000389913:F447L;ENSP00000414352:F358L	ENSP00000414352:F358L	F	-	3	2	PLEKHM1	40891556	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.837000	0.48191	0.936000	0.37367	-0.827000	0.03088	TTC	PLEKHM1	-	NULL	ENSG00000225190		0.498	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	178	0.56	1	G	NM_014798		43535773	43535773	-1	no_errors	ENST00000430334	ensembl	human	known	69_37n	missense	115	27.67	44	SNP	1.000	T
PLEKHO1	51177	genome.wustl.edu	37	1	150123146	150123146	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150123146C>T	ENST00000369124.4	+	2	353	c.75C>T	c.(73-75)gtC>gtT	p.V25V	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.V25V	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	25	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCGAGAAGGTCGGCTGGGTCC	0.577																																						dbGAP											0													81.0	90.0	87.0					1																	150123146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.75C>T	1.37:g.150123146C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V25	ENST00000369124.4	37	c.75	CCDS945.1	1																																																																																			PLEKHO1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000023902		0.577	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	240	0.00	0	C	NM_016274		150123146	150123146	+1	no_errors	ENST00000369124	ensembl	human	known	69_37n	silent	98	16.10	19	SNP	0.999	T
PLEKHS1	79949	genome.wustl.edu	37	10	115529568	115529568	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115529568G>T	ENST00000369310.3	+	6	1005	c.443G>T	c.(442-444)aGa>aTa	p.R148I	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.R154I|PLEKHS1_ENST00000369309.1_5'Flank|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R66I|PLEKHS1_ENST00000354462.3_5'Flank	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	148																	GGTAATAAAAGAACCCTCTTC	0.512																																						dbGAP											0													123.0	117.0	119.0					10																	115529568		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.443G>T	10.37:g.115529568G>T	ENSP00000358316:p.Arg148Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R148I	ENST00000369310.3	37	c.443	CCDS53580.1	10	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313782	0.60414	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310	T;T;T	0.29397	1.57;1.57;1.57	5.93	5.03	0.67393	.	0.181621	0.45867	D	0.000335	T	0.53351	0.1791	M	0.73962	2.25	0.24925	N	0.991954	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.76575	0.974;0.962;0.988	T	0.50890	-0.8774	10	0.66056	D	0.02	-27.3785	11.1069	0.48207	0.0846:0.0:0.9154:0.0	.	148;148;154	Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.;.;.	I	154;66;148	ENSP00000354332:R154I;ENSP00000358318:R66I;ENSP00000358316:R148I	ENSP00000354332:R154I	R	+	2	0	C10orf81	115519558	0.740000	0.28207	0.016000	0.15963	0.002000	0.02628	2.973000	0.49264	1.515000	0.48885	-0.140000	0.14226	AGA	PLEKHS1	-	NULL	ENSG00000148735		0.512	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHS1	HGNC	protein_coding	OTTHUMT00000050432.1	203	0.00	0	G	NM_024889		115529568	115529568	+1	no_errors	ENST00000369310	ensembl	human	known	69_37n	missense	126	29.21	52	SNP	0.158	T
PLG	5340	genome.wustl.edu	37	6	161123358	161123358	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:161123358C>A	ENST00000308192.9	+	1	85	c.22C>A	c.(22-24)Ctt>Att	p.L8I	RP1-81D8.3_ENST00000448126.1_lincRNA|PLG_ENST00000366924.2_Missense_Mutation_p.L8I|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	8					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGAAGTGGTTCTTCTACTTCT	0.373																																						dbGAP											0													33.0	34.0	34.0					6																	161123358		2021	3909	5930	-	-	-	SO:0001583	missense	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.22C>A	6.37:g.161123358C>A	ENSP00000308938:p.Leu8Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.L8I	ENST00000308192.9	37	c.22	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	.	10.23	1.293145	0.23564	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	T;D;T	0.89810	-0.36;-2.57;-0.53	3.93	1.09	0.20402	.	0.684919	0.11036	U	0.606650	T	0.72120	0.3421	L	0.39898	1.24	0.24571	N	0.993926	P	0.48294	0.908	B	0.41860	0.368	T	0.63528	-0.6617	10	0.59425	D	0.04	.	5.6135	0.17418	0.0:0.6375:0.0:0.3625	.	8	P00747	PLMN_HUMAN	I	8	ENSP00000355891:L8I;ENSP00000308938:L8I;ENSP00000389424:L8I	ENSP00000308938:L8I	L	+	1	0	PLG	161043348	0.013000	0.17824	0.599000	0.28851	0.860000	0.49131	0.046000	0.14035	0.271000	0.22005	0.467000	0.42956	CTT	PLG	-	pirsf_Pept_S1A_plasmin	ENSG00000122194		0.373	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	1125	0.18	2	C	NM_000301		161123358	161123358	+1	no_errors	ENST00000308192	ensembl	human	known	69_37n	missense	758	13.26	116	SNP	0.426	A
PLIN1	5346	genome.wustl.edu	37	15	90213326	90213326	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:90213326C>T	ENST00000300055.5	-	5	648	c.483G>A	c.(481-483)gcG>gcA	p.A161A	PLIN1_ENST00000430628.2_Silent_p.A161A	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	161					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CAGCAAATTCCGCAGTGTCTC	0.632																																						dbGAP											0													34.0	35.0	35.0					15																	90213326		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.483G>A	15.37:g.90213326C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5Y6	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.A161	ENST00000300055.5	37	c.483	CCDS10353.1	15																																																																																			PLIN1	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000166819		0.632	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN1	HGNC	protein_coding	OTTHUMT00000313424.2	81	0.00	0	C	NM_002666		90213326	90213326	-1	no_errors	ENST00000300055	ensembl	human	known	69_37n	silent	35	18.60	8	SNP	0.000	T
PLIN2	123	genome.wustl.edu	37	9	19120944	19120944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:19120944C>A	ENST00000276914.2	-	5	708	c.529G>T	c.(529-531)Gaa>Taa	p.E177*	PLIN2_ENST00000411567.1_Intron	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	177					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGTGCATTTTCTACGCCACTG	0.473																																						dbGAP											0													159.0	137.0	144.0					9																	19120944		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.529G>T	9.37:g.19120944C>A	ENSP00000276914:p.Glu177*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BSC3	Nonsense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.E177*	ENST00000276914.2	37	c.529	CCDS6490.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456144	0.84209	.	.	ENSG00000147872	ENST00000276914	.	.	.	5.63	4.73	0.59995	.	0.265833	0.42420	D	0.000719	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.7924	0.46440	0.0:0.8561:0.0:0.1439	.	.	.	.	X	177	.	ENSP00000276914:E177X	E	-	1	0	PLIN2	19110944	1.000000	0.71417	0.781000	0.31783	0.306000	0.27790	6.027000	0.70881	1.533000	0.49186	0.650000	0.86243	GAA	PLIN2	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000147872		0.473	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1	95	0.00	0	C	NM_001122		19120944	19120944	-1	no_errors	ENST00000276914	ensembl	human	known	69_37n	nonsense	68	13.92	11	SNP	1.000	A
PLK2	10769	genome.wustl.edu	37	5	57752894	57752894	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:57752894G>T	ENST00000274289.3	-	8	1334	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	345					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACAACAGCTAGAAGACAGTCT	0.398																																						dbGAP											0													60.0	64.0	63.0					5																	57752894		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1034C>A	5.37:g.57752894G>T	ENSP00000274289:p.Ser345Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.S345Y	ENST00000274289.3	37	c.1034	CCDS3974.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984525|2.984525	0.53934|0.53934	.|.	.|.	ENSG00000145632|ENSG00000145632	ENST00000442330|ENST00000274289;ENST00000537944	.|T	.|0.25085	.|1.82	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Protein kinase-like domain (1);	.|0.175359	.|0.52532	.|D	.|0.000077	T|T	0.21881|0.21881	0.0527|0.0527	N|N	0.14661|0.14661	0.345|0.345	0.39690|0.39690	D|D	0.971029|0.971029	.|B	.|0.31435	.|0.323	.|B	.|0.35859	.|0.212	T|T	0.15607|0.15607	-1.0431|-1.0431	6|10	0.21540|0.72032	T|D	0.41|0.01	-15.9508|-15.9508	18.9464|18.9464	0.92623|0.92623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|345	.|Q9NYY3	.|PLK2_HUMAN	I|Y	331|345	.|ENSP00000274289:S345Y	ENSP00000401861:L331I|ENSP00000274289:S345Y	L|S	-|-	1|2	2|0	PLK2|PLK2	57788651|57788651	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.886000|0.886000	0.51366|0.51366	6.394000|6.394000	0.73223|0.73223	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	CTA|TCT	PLK2	-	superfamily_Kinase-like_dom	ENSG00000145632		0.398	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	48	0.00	0	G	NM_006622		57752894	57752894	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.978	T
PLP2	5355	genome.wustl.edu	37	X	49030742	49030742	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:49030742C>T	ENST00000376327.5	+	4	481	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	136	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						CTTCCCCGTTCGGCAGCCAAG	0.557													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13159	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													99.0	74.0	83.0					X																	49030742		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.406C>T	X.37:g.49030742C>T	ENSP00000365505:p.Arg136Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT7|Q32MM8	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.R136W	ENST00000376327.5	37	c.406	CCDS14319.1	X	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430590	0.43122	.	.	ENSG00000102007	ENST00000376327	T	0.32023	1.47	5.64	1.65	0.23941	Marvel (1);	15.836100	0.00357	N	0.000025	T	0.38108	0.1028	M	0.68317	2.08	0.09310	N	1	D	0.62365	0.991	B	0.44315	0.446	T	0.25328	-1.0135	10	0.46703	T	0.11	-0.2134	7.5265	0.27658	0.4497:0.4699:0.0:0.0804	.	136	Q04941	PLP2_HUMAN	W	136	ENSP00000365505:R136W	ENSP00000365505:R136W	R	+	1	2	PLP2	48917686	0.001000	0.12720	0.070000	0.20053	0.432000	0.31715	-0.187000	0.09656	-0.112000	0.11979	0.513000	0.50165	CGG	PLP2	-	NULL	ENSG00000102007		0.557	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP2	HGNC	protein_coding	OTTHUMT00000056540.1	135	0.00	0	C	NM_002668		49030742	49030742	+1	no_errors	ENST00000376327	ensembl	human	known	69_37n	missense	62	17.11	13	SNP	0.024	T
PLXNA3	55558	genome.wustl.edu	37	X	153689879	153689879	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:153689879C>A	ENST00000369682.3	+	3	1210	c.1035C>A	c.(1033-1035)atC>atA	p.I345I		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	345	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCAACATCAATGCCCACA	0.622																																						dbGAP											0													141.0	139.0	140.0					X																	153689879		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1035C>A	X.37:g.153689879C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I345	ENST00000369682.3	37	c.1035	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000130827		0.622	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	43	0.00	0	C	NM_017514		153689879	153689879	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	1.000	A
PLXNA4	91584	genome.wustl.edu	37	7	131887455	131887455	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:131887455G>A	ENST00000359827.3	-	12	3498	c.2536C>T	c.(2536-2538)Ctg>Ttg	p.L846L	PLXNA4_ENST00000321063.4_Silent_p.L846L			Q9HCM2	PLXA4_HUMAN	plexin A4	846	PSI 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACAGCTCCAGCCACTGGCTC	0.657																																						dbGAP											0													34.0	37.0	36.0					7																	131887455		2018	4182	6200	-	-	-	SO:0001819	synonymous_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2536C>T	7.37:g.131887455G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.L846	ENST00000359827.3	37	c.2536	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000221866		0.657	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	46	0.00	0	G	NM_181775		131887455	131887455	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	1.000	A
PLXNA4	91584	genome.wustl.edu	37	7	132174080	132174080	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:132174080C>G	ENST00000359827.3	-	3	2304	c.1342G>C	c.(1342-1344)Gtg>Ctg	p.V448L	PLXNA4_ENST00000378539.5_Missense_Mutation_p.V448L|PLXNA4_ENST00000423507.2_Missense_Mutation_p.V448L|PLXNA4_ENST00000321063.4_Missense_Mutation_p.V448L			Q9HCM2	PLXA4_HUMAN	plexin A4	448	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGGTGCCCACAAAGGCCAGA	0.512																																						dbGAP											0													121.0	99.0	106.0					7																	132174080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1342G>C	7.37:g.132174080C>G	ENSP00000352882:p.Val448Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V448L	ENST00000359827.3	37	c.1342	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623875	0.46840	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.06005	0.0156	N	0.16201	0.385	0.80722	D	1	B;B;B	0.17268	0.005;0.006;0.021	B;B;B	0.23574	0.011;0.028;0.047	T	0.14090	-1.0485	10	0.02654	T	1	.	18.9751	0.92733	0.0:1.0:0.0:0.0	.	448;448;448	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	L	448	ENSP00000323194:V448L;ENSP00000352882:V448L;ENSP00000392772:V448L;ENSP00000367800:V448L	ENSP00000323194:V448L	V	-	1	0	PLXNA4	131824620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.604000	0.82830	2.712000	0.92718	0.650000	0.86243	GTG	PLXNA4	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000221866		0.512	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	87	0.00	0	C	NM_181775		132174080	132174080	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	56	23.29	17	SNP	1.000	G
PLXNB1	5364	genome.wustl.edu	37	3	48463207	48463207	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:48463207C>T	ENST00000358536.4	-	7	1798	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R510H|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R510H|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R510H	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	510					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGAACGGCGACTGCACCT	0.612																																						dbGAP											0													43.0	43.0	43.0					3																	48463207		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1529G>A	3.37:g.48463207C>T	ENSP00000351338:p.Arg510His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R510H	ENST00000358536.4	37	c.1529	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149734	0.57151	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.62	4.75	0.60458	.	0.136997	0.48286	N	0.000193	T	0.37732	0.1014	M	0.81497	2.545	0.80722	D	1	B;D	0.59357	0.037;0.985	B;P	0.52909	0.02;0.713	T	0.29488	-1.0010	10	0.23891	T	0.37	.	13.91	0.63860	0.0:0.927:0.0:0.073	.	510;510	O43157;O43157-2	PLXB1_HUMAN;.	H	510	ENSP00000296440:R510H;ENSP00000351242:R510H;ENSP00000351338:R510H;ENSP00000414199:R510H	ENSP00000296440:R510H	R	-	2	0	PLXNB1	48438211	0.995000	0.38212	0.965000	0.40720	0.118000	0.20060	0.643000	0.24750	1.394000	0.46624	-0.126000	0.14955	CGC	PLXNB1	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000164050		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	75	0.00	0	C	NM_002673		48463207	48463207	-1	no_errors	ENST00000296440	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	T
PLXNC1	10154	genome.wustl.edu	37	12	94620476	94620476	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:94620476G>T	ENST00000258526.4	+	8	2135	c.1886G>T	c.(1885-1887)aGa>aTa	p.R629I		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	629					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GATTATGAGAGAAACCAGGTA	0.527																																						dbGAP											0													157.0	155.0	155.0					12																	94620476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1886G>T	12.37:g.94620476G>T	ENSP00000258526:p.Arg629Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R629I	ENST00000258526.4	37	c.1886	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	9.577	1.122648	0.20877	.	.	ENSG00000136040	ENST00000258526	T	0.06849	3.25	5.71	0.473	0.16763	.	0.841887	0.10796	N	0.633227	T	0.09379	0.0231	M	0.62723	1.935	0.09310	N	0.999999	B	0.25169	0.119	B	0.26517	0.07	T	0.34502	-0.9826	10	0.29301	T	0.29	.	6.4483	0.21890	0.1665:0.4502:0.3833:0.0	.	629	O60486	PLXC1_HUMAN	I	629	ENSP00000258526:R629I	ENSP00000258526:R629I	R	+	2	0	PLXNC1	93144607	0.004000	0.15560	0.012000	0.15200	0.476000	0.33039	-0.057000	0.11768	0.437000	0.26423	0.561000	0.74099	AGA	PLXNC1	-	superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000136040		0.527	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	281	0.00	0	G			94620476	94620476	+1	no_errors	ENST00000258526	ensembl	human	known	69_37n	missense	194	11.82	26	SNP	0.004	T
PM20D1	148811	genome.wustl.edu	37	1	205819088	205819088	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:205819088C>T	ENST00000367136.4	-	1	157	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	38					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)	p.R38Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAAGGGATTCGCGACGCCCT	0.592																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											90.0	92.0	91.0					1																	205819088		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.113G>A	1.37:g.205819088C>T	ENSP00000356104:p.Arg38Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E3|Q96DM4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer	p.R38Q	ENST00000367136.4	37	c.113	CCDS1460.1	1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371743	0.24857	.	.	ENSG00000162877	ENST00000367136	T	0.06294	3.32	5.27	2.33	0.28932	.	0.385756	0.27927	N	0.017288	T	0.05456	0.0144	L	0.51422	1.61	0.19945	N	0.999943	B	0.21688	0.059	B	0.14023	0.01	T	0.44651	-0.9314	10	0.10902	T	0.67	.	6.9349	0.24461	0.0:0.7049:0.0:0.2951	.	38	Q6GTS8	P20D1_HUMAN	Q	38	ENSP00000356104:R38Q	ENSP00000356104:R38Q	R	-	2	0	PM20D1	204085711	0.670000	0.27512	0.819000	0.32651	0.487000	0.33371	0.365000	0.20348	0.327000	0.23409	-0.136000	0.14681	CGA	PM20D1	-	NULL	ENSG00000162877		0.592	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	HGNC	protein_coding	OTTHUMT00000087736.1	228	0.00	0	C	NM_152491		205819088	205819088	-1	no_errors	ENST00000367136	ensembl	human	known	69_37n	missense	173	13.07	26	SNP	0.650	T
PMCH	5367	genome.wustl.edu	37	12	102591424	102591424	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:102591424A>C	ENST00000329406.4	-	1	199	c.125T>G	c.(124-126)tTc>tGc	p.F42C		NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	42				F -> S (in Ref. 2; AAB27493). {ECO:0000305}.	cell differentiation (GO:0030154)|feeding behavior (GO:0007631)|multicellular organismal development (GO:0007275)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						CCCCAACCTGAATGTATTAAA	0.328																																						dbGAP											0													85.0	82.0	83.0					12																	102591424		2201	4300	6501	-	-	-	SO:0001583	missense	0			M57703	CCDS31885.1	12q23.2	2013-02-26			ENSG00000183395	ENSG00000183395		"""Endogenous ligands"""	9109	protein-coding gene	gene with protein product		176795				2149166	Standard	NM_002674		Approved	MCH	uc001tjl.3	P20382	OTTHUMG00000170479	ENST00000329406.4:c.125T>G	12.37:g.102591424A>C	ENSP00000332225:p.Phe42Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16044|Q8WVG0	Missense_Mutation	SNP	pfam_Prepro-melanin_conc_hormone,prints_Prepro-melanin_conc_hormone	p.F42C	ENST00000329406.4	37	c.125	CCDS31885.1	12	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657976	0.47467	.	.	ENSG00000183395	ENST00000329406	.	.	.	5.76	5.76	0.90799	.	0.094057	0.47093	D	0.000247	T	0.33702	0.0872	L	0.27053	0.805	0.23550	N	0.997434	D	0.56287	0.975	P	0.46629	0.522	T	0.21484	-1.0244	9	0.46703	T	0.11	.	16.087	0.81065	1.0:0.0:0.0:0.0	.	42	P20382	MCH_HUMAN	C	42	.	ENSP00000332225:F42C	F	-	2	0	PMCH	101115554	1.000000	0.71417	0.119000	0.21687	0.906000	0.53458	6.384000	0.73177	2.202000	0.70862	0.533000	0.62120	TTC	PMCH	-	NULL	ENSG00000183395		0.328	PMCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMCH	HGNC	protein_coding	OTTHUMT00000409337.1	500	0.00	0	A	NM_002674		102591424	102591424	-1	no_errors	ENST00000329406	ensembl	human	known	69_37n	missense	293	27.30	110	SNP	0.379	C
PML	5371	genome.wustl.edu	37	15	74328401	74328401	+	Intron	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:74328401A>G	ENST00000268058.3	+	7	1806				PML_ENST00000436891.3_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Silent_p.*436*|PML_ENST00000354026.6_3'UTR|PML_ENST00000268059.6_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						gcactcattaattcttggtta	0.552			T	"""RARA, PAX5"""	"""APL, ALL"""																																	dbGAP		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													137.0	147.0	143.0					15																	74328401		2198	4297	6495	-	-	-	SO:0001627	intron_variant	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1530A>G	15.37:g.74328401A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.*436	ENST00000268058.3	37	c.1308	CCDS10255.1	15																																																																																			PML	-	NULL	ENSG00000140464		0.552	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	208	0.00	0	A	NM_002675		74328401	74328401	+1	no_errors	ENST00000395132	ensembl	human	known	69_37n	silent	161	12.02	22	SNP	0.000	G
PMS2	5395	genome.wustl.edu	37	7	6022616	6022616	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:6022616C>T	ENST00000265849.7	-	12	2118	c.2013G>A	c.(2011-2013)acG>acA	p.T671T	PMS2_ENST00000441476.2_Silent_p.T565T|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Silent_p.T270T|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	671					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGCAAACATCGTTTTACTGC	0.318			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													6.0	6.0	6.0					7																	6022616		2019	4127	6146	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2013G>A	7.37:g.6022616C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.T671	ENST00000265849.7	37	c.2013	CCDS5343.1	7																																																																																			PMS2	-	NULL	ENSG00000122512		0.318	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	64	0.00	0	C	NM_000535		6022616	6022616	-1	no_errors	ENST00000265849	ensembl	human	known	69_37n	silent	68	20.00	17	SNP	0.038	T
PNLIPRP1	5407	genome.wustl.edu	37	10	118357354	118357354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:118357354G>T	ENST00000528052.1	+	7	660	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.E197*|PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.E197*			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	197					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGATCCTGTAGAAGCAAGTTT	0.498																																						dbGAP											0													159.0	138.0	145.0					10																	118357354		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.589G>T	10.37:g.118357354G>T	ENSP00000433933:p.Glu197*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Nonsense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.E197*	ENST00000528052.1	37	c.589	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519959	0.85495	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000530319;ENST00000527980;ENST00000534537	.	.	.	5.17	3.32	0.38043	.	0.150564	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-11.6831	10.6341	0.45554	0.1591:0.0:0.8409:0.0	.	.	.	.	X	197;197;152;124;197	.	ENSP00000351695:E197X	E	+	1	0	PNLIPRP1	118347344	0.999000	0.42202	0.559000	0.28332	0.873000	0.50193	2.872000	0.48467	0.686000	0.31488	0.561000	0.74099	GAA	PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000187021		0.498	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	145	0.00	0	G	NM_006229		118357354	118357354	+1	no_errors	ENST00000358834	ensembl	human	known	69_37n	nonsense	152	11.63	20	SNP	0.973	T
PNPLA8	50640	genome.wustl.edu	37	7	108142960	108142960	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:108142960G>T	ENST00000422087.1	-	6	1739	c.1333C>A	c.(1333-1335)Ctc>Atc	p.L445I	PNPLA8_ENST00000257694.8_Missense_Mutation_p.L445I|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L445I|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L445I|PNPLA8_ENST00000453144.1_Missense_Mutation_p.L345I|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L445I|PNPLA8_ENST00000483879.1_5'UTR	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	445	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.L445I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCAATTGAGAGAATTCGGATT	0.388																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											119.0	117.0	118.0					7																	108142960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1333C>A	7.37:g.108142960G>T	ENSP00000410804:p.Leu445Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.L445I	ENST00000422087.1	37	c.1333	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.311761	0.95655	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	6.02	6.02	0.97574	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95959	0.8960	10	0.72032	D	0.01	.	20.5269	0.99230	0.0:0.0:1.0:0.0	.	445	Q9NP80	PLPL8_HUMAN	I	445;445;445;445;345;445;345	ENSP00000394988:L445I;ENSP00000257694:L445I;ENSP00000373380:L445I;ENSP00000410804:L445I;ENSP00000387789:L345I;ENSP00000406779:L445I;ENSP00000402274:L345I	ENSP00000257694:L445I	L	-	1	0	PNPLA8	107930196	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.987000	0.88182	2.859000	0.98148	0.591000	0.81541	CTC	PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000135241		0.388	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	201	0.00	0	G	NM_015723		108142960	108142960	-1	no_errors	ENST00000257694	ensembl	human	known	69_37n	missense	130	25.71	45	SNP	1.000	T
POC5	134359	genome.wustl.edu	37	5	75008689	75008689	+	Missense_Mutation	SNP	G	G	A	rs537446197	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:75008689G>A	ENST00000428202.2	-	2	263	c.74C>T	c.(73-75)tCg>tTg	p.S25L	POC5_ENST00000510798.1_5'Flank|POC5_ENST00000504862.1_5'Flank|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000514838.2_Missense_Mutation_p.S25L|POC5_ENST00000446329.2_5'Flank	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	25					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTGAAGATTCGAAGAGACAGA	0.323													G|||	8	0.00159744	0.0	0.0	5008	,	,		16099	0.0		0.0	False		,,,				2504	0.0082					dbGAP											0													61.0	54.0	56.0					5																	75008689		1826	4078	5904	-	-	-	SO:0001583	missense	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.74C>T	5.37:g.75008689G>A	ENSP00000410216:p.Ser25Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	NULL	p.S25L	ENST00000428202.2	37	c.74	CCDS47236.1	5	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418075	0.42918	.	.	ENSG00000152359	ENST00000428202;ENST00000514838	T;T	0.49432	1.2;0.78	5.52	4.66	0.58398	.	.	.	.	.	T	0.43722	0.1260	L	0.59436	1.845	0.80722	D	1	B	0.22480	0.07	B	0.18561	0.022	T	0.39921	-0.9590	9	0.56958	D	0.05	-4.6028	10.5281	0.44960	0.0899:0.0:0.9101:0.0	.	25	Q8NA72	POC5_HUMAN	L	25	ENSP00000410216:S25L;ENSP00000420971:S25L	ENSP00000410216:S25L	S	-	2	0	POC5	75044445	1.000000	0.71417	0.998000	0.56505	0.777000	0.43975	4.208000	0.58486	1.343000	0.45638	-0.137000	0.14449	TCG	POC5	-	NULL	ENSG00000152359		0.323	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1	83	0.00	0	G	NM_152408		75008689	75008689	-1	no_errors	ENST00000428202	ensembl	human	known	69_37n	missense	43	21.82	12	SNP	1.000	A
POF1B	79983	genome.wustl.edu	37	X	84585967	84585967	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:84585967C>A	ENST00000262753.4	-	7	987	c.842G>T	c.(841-843)aGa>aTa	p.R281I	POF1B_ENST00000373145.3_Missense_Mutation_p.R281I	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	281						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCCTCCAATTCTCTGCAAATG	0.363																																						dbGAP											0													93.0	83.0	86.0					X																	84585967		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.842G>T	X.37:g.84585967C>A	ENSP00000262753:p.Arg281Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	NULL	p.R281I	ENST00000262753.4	37	c.842	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835378	0.71373	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.21361	2.01;2.01	5.62	3.59	0.41128	.	0.173570	0.48767	D	0.000161	T	0.22126	0.0533	L	0.40543	1.245	0.43907	D	0.996548	P;P	0.48503	0.911;0.911	P;P	0.50896	0.653;0.653	T	0.02512	-1.1148	10	0.72032	D	0.01	.	4.5297	0.11999	0.0:0.5791:0.0:0.4209	.	281;281	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	I	281	ENSP00000262753:R281I;ENSP00000362238:R281I	ENSP00000262753:R281I	R	-	2	0	POF1B	84472623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.191000	0.42640	1.130000	0.42092	0.600000	0.82982	AGA	POF1B	-	NULL	ENSG00000124429		0.363	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	HGNC	protein_coding	OTTHUMT00000057391.2	620	0.00	0	C	NM_024921		84585967	84585967	-1	no_errors	ENST00000373145	ensembl	human	known	69_37n	missense	421	13.52	66	SNP	1.000	A
POGZ	23126	genome.wustl.edu	37	1	151377816	151377816	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151377816C>T	ENST00000271715.2	-	19	4009	c.3695G>A	c.(3694-3696)cGc>cAc	p.R1232H	POGZ_ENST00000531094.1_Missense_Mutation_p.R1170H|POGZ_ENST00000361398.3_Missense_Mutation_p.R1179H|POGZ_ENST00000540984.1_Missense_Mutation_p.R594H|POGZ_ENST00000409503.1_Missense_Mutation_p.R1223H|POGZ_ENST00000368863.2_Missense_Mutation_p.R1137H|POGZ_ENST00000491586.1_Missense_Mutation_p.R1188H|POGZ_ENST00000392723.1_Missense_Mutation_p.R1179H	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1232	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAAGTGAGTGCGATGACAGTC	0.517																																						dbGAP											0													99.0	91.0	93.0					1																	151377816		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3695G>A	1.37:g.151377816C>T	ENSP00000271715:p.Arg1232His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.R1232H	ENST00000271715.2	37	c.3695	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847527	0.51164	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000002	T	0.39253	0.1071	N	0.12182	0.205	0.48762	D	0.9997	P;P;D;D;D;P	0.89917	0.946;0.946;1.0;1.0;0.999;0.946	P;P;D;D;D;P	0.79784	0.543;0.543;0.993;0.993;0.989;0.543	T	0.36696	-0.9737	10	0.37606	T	0.19	-15.6725	19.0158	0.92894	0.0:1.0:0.0:0.0	.	1170;1223;1137;1188;1179;1232	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	H	1179;1232;1179;1137;1223;1170;594;1188	ENSP00000376484:R1179H;ENSP00000271715:R1232H;ENSP00000354467:R1179H;ENSP00000357856:R1137H;ENSP00000386836:R1223H;ENSP00000431259:R1170H;ENSP00000443547:R594H;ENSP00000418408:R1188H	ENSP00000271715:R1232H	R	-	2	0	POGZ	149644440	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.514000	0.67043	2.838000	0.97847	0.591000	0.81541	CGC	POGZ	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000143442		0.517	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	217	0.00	0	C	NM_207171		151377816	151377816	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	322	10.03	36	SNP	1.000	T
POLA1	5422	genome.wustl.edu	37	X	24746048	24746048	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:24746048A>C	ENST00000379059.3	+	15	1678	c.1663A>C	c.(1663-1665)Aat>Cat	p.N555H	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Missense_Mutation_p.N561H	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	555					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GAACCATCAAAATGAGGTTTA	0.403																																						dbGAP											0													81.0	65.0	70.0					X																	24746048		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1663A>C	X.37:g.24746048A>C	ENSP00000368349:p.Asn555His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.N561H	ENST00000379059.3	37	c.1681	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867470	0.32977	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.45668	0.89;0.89	5.08	1.16	0.20824	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.193527	0.53938	N	0.000059	T	0.36110	0.0955	L	0.39566	1.225	0.58432	D	0.999999	B;B	0.29481	0.245;0.011	B;B	0.37346	0.247;0.036	T	0.08106	-1.0738	10	0.27082	T	0.32	-8.6072	12.1482	0.54036	0.5844:0.4155:0.0:0.0	.	561;555	A6NMQ1;P09884	.;DPOLA_HUMAN	H	561;555	ENSP00000368358:N561H;ENSP00000368349:N555H	ENSP00000368349:N555H	N	+	1	0	POLA1	24655969	1.000000	0.71417	0.970000	0.41538	0.615000	0.37417	3.828000	0.55753	-0.052000	0.13311	0.417000	0.27973	AAT	POLA1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.403	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	301	0.33	1	A	NM_016937		24746048	24746048	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	222	20.71	58	SNP	1.000	C
POLA1	5422	genome.wustl.edu	37	X	24759535	24759535	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:24759535G>T	ENST00000379059.3	+	21	2257	c.2242G>T	c.(2242-2244)Gat>Tat	p.D748Y	POLA1_ENST00000379068.3_Missense_Mutation_p.D754Y	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	748					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CACCTGGAAAGATGCCAAGTT	0.348																																						dbGAP											0													143.0	120.0	128.0					X																	24759535		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2242G>T	X.37:g.24759535G>T	ENSP00000368349:p.Asp748Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.D754Y	ENST00000379059.3	37	c.2260	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031787	0.75504	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.74106	-0.81;-0.81	5.24	5.24	0.73138	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92924	0.6358	10	0.87932	D	0	-15.1626	17.9679	0.89105	0.0:0.0:1.0:0.0	.	748	P09884	DPOLA_HUMAN	Y	754;748	ENSP00000368358:D754Y;ENSP00000368349:D748Y	ENSP00000368349:D748Y	D	+	1	0	POLA1	24669456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.187000	0.94912	2.433000	0.82419	0.600000	0.82982	GAT	POLA1	-	superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.348	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	360	0.00	0	G	NM_016937		24759535	24759535	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	201	30.93	90	SNP	1.000	T
POLA1	5422	genome.wustl.edu	37	X	24761362	24761362	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:24761362G>A	ENST00000379059.3	+	23	2479	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	SCARNA23_ENST00000516060.1_RNA|POLA1_ENST00000379068.3_Missense_Mutation_p.E828K	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	822					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGAAGATGAAGAAATTGATGG	0.378																																						dbGAP											0													101.0	94.0	96.0					X																	24761362		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2464G>A	X.37:g.24761362G>A	ENSP00000368349:p.Glu822Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.E828K	ENST00000379059.3	37	c.2482	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132608	0.56828	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.19394	2.15;2.16	4.98	4.98	0.66077	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.459134	0.26109	N	0.026284	T	0.21509	0.0518	L	0.59436	1.845	0.48236	D	0.999617	B	0.26147	0.143	B	0.27170	0.077	T	0.03202	-1.1061	10	0.25106	T	0.35	-4.9421	11.026	0.47744	0.0867:0.0:0.9133:0.0	.	822	P09884	DPOLA_HUMAN	K	828;822	ENSP00000368358:E828K;ENSP00000368349:E822K	ENSP00000368349:E822K	E	+	1	0	POLA1	24671283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.241000	0.78201	2.302000	0.77476	0.600000	0.82982	GAA	POLA1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.378	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	290	0.00	0	G	NM_016937		24761362	24761362	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	146	27.72	56	SNP	1.000	A
POLA1	5422	genome.wustl.edu	37	X	25013998	25013998	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:25013998C>A	ENST00000379059.3	+	37	4335	c.4320C>A	c.(4318-4320)ttC>ttA	p.F1440L	POLA1_ENST00000379068.3_Missense_Mutation_p.F1446L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1440					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	CAGAGCAATTCTTGTCCCGAA	0.443																																						dbGAP											0													78.0	63.0	68.0					X																	25013998		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.4320C>A	X.37:g.25013998C>A	ENSP00000368349:p.Phe1440Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.F1446L	ENST00000379059.3	37	c.4338	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	9.034	0.988126	0.18966	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.15834	2.39;2.39	5.42	3.53	0.40419	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.396067	0.26855	N	0.022158	T	0.10121	0.0248	L	0.38838	1.175	0.28300	N	0.92313	B	0.24368	0.102	B	0.20384	0.029	T	0.29366	-1.0014	10	0.17832	T	0.49	-7.5825	2.4535	0.04524	0.1472:0.5354:0.1404:0.177	.	1440	P09884	DPOLA_HUMAN	L	1446;1440	ENSP00000368358:F1446L;ENSP00000368349:F1440L	ENSP00000368349:F1440L	F	+	3	2	POLA1	24923919	0.507000	0.26146	0.972000	0.41901	0.976000	0.68499	0.013000	0.13310	0.415000	0.25817	0.523000	0.50628	TTC	POLA1	-	pfam_Znf_DNA-dir_DNA_pol_B_alpha	ENSG00000101868		0.443	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	332	0.00	0	C	NM_016937		25013998	25013998	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	missense	192	28.36	76	SNP	0.982	A
POLA2	23649	genome.wustl.edu	37	11	65034164	65034164	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65034164C>A	ENST00000265465.3	+	2	722	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	POLA2_ENST00000541089.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	64					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ATCCTGAACTCTTTTGAGCAT	0.433																																						dbGAP											0													108.0	91.0	97.0					11																	65034164		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.191C>A	11.37:g.65034164C>A	ENSP00000265465:p.Ser64Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.S64Y	ENST00000265465.3	37	c.191	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633835	0.87660	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.24350	1.86	5.24	4.33	0.51752	DNA polymerase alpha, subunit B N-terminal (1);	0.543088	0.19703	N	0.107987	T	0.38374	0.1038	L	0.60455	1.87	0.37760	D	0.92627	D;P	0.58620	0.983;0.808	P;P	0.57846	0.828;0.748	T	0.34254	-0.9836	10	0.62326	D	0.03	-9.404	8.7912	0.34852	0.0:0.9:0.0:0.1	.	24;64	E9PIQ6;Q14181	.;DPOA2_HUMAN	Y	64;24	ENSP00000265465:S64Y	ENSP00000265465:S64Y	S	+	2	0	POLA2	64790740	0.085000	0.21516	0.560000	0.28344	0.995000	0.86356	2.114000	0.41911	2.436000	0.82500	0.563000	0.77884	TCT	POLA2	-	pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.433	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	105	0.00	0	C	NM_002689		65034164	65034164	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	missense	105	13.22	16	SNP	0.432	A
POLE	5426	genome.wustl.edu	37	12	133215787	133215787	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:133215787G>A	ENST00000320574.5	-	40	5519	c.5476C>T	c.(5476-5478)Cgg>Tgg	p.R1826W	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.R1799W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1826					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GATGGCGACCGAAGCCAGCGG	0.567								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													291.0	185.0	221.0					12																	133215787		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5476C>T	12.37:g.133215787G>A	ENSP00000322570:p.Arg1826Trp	Somatic	1601	WXS	Illumina GAIIx	Phase_IV	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.R1837W	ENST00000320574.5	37	c.5509	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411523	0.62399	.	.	ENSG00000177084	ENST00000434528;ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.24538	1.85;1.85;1.85	5.62	5.62	0.85841	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.106697	0.64402	D	0.000002	T	0.53514	0.1801	M	0.81942	2.565	0.54753	D	0.999988	D;D	0.64830	0.994;0.992	P;P	0.61722	0.893;0.849	T	0.57723	-0.7762	10	0.87932	D	0	.	19.661	0.95871	0.0:0.0:1.0:0.0	.	1826;36	Q07864;B3KS74	DPOE1_HUMAN;.	W	36;1826;1837;1799	ENSP00000322570:R1826W;ENSP00000406383:R1837W;ENSP00000445753:R1799W	ENSP00000322570:R1826W	R	-	1	2	POLE	131725860	1.000000	0.71417	0.232000	0.24009	0.165000	0.22458	6.461000	0.73522	2.659000	0.90383	0.655000	0.94253	CGG	POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.567	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	231	0.00	0	G	NM_006231		133215787	133215787	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	193	31.12	89	SNP	1.000	A
POLE	5426	genome.wustl.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	286			P -> H (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCATCAGGAAACTTGAG	0.493								DNA polymerases (catalytic subunits)																														dbGAP											1	Substitution - Missense(1)	large_intestine(1)											115.0	99.0	104.0					12																	133253184		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.857C>G	12.37:g.133253184G>C	ENSP00000322570:p.Pro286Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.P297R	ENST00000320574.5	37	c.890	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974541	0.92919	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77598	0.4154	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83192	-0.0083	10	0.87932	D	0	.	19.3785	0.94521	0.0:0.0:1.0:0.0	.	259;286	F5H1D6;Q07864	.;DPOE1_HUMAN	R	286;297;259;66;221	ENSP00000322570:P286R;ENSP00000406383:P297R;ENSP00000445753:P259R;ENSP00000442519:P66R	ENSP00000322570:P286R	P	-	2	0	POLE	131763257	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.762000	0.98944	2.566000	0.86566	0.561000	0.74099	CCT	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.493	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	70	0.00	0	G	NM_006231		133253184	133253184	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	1.000	C
POLE3	54107	genome.wustl.edu	37	9	116172155	116172155	+	Intron	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:116172155A>C	ENST00000374171.4	-	4	323				POLE3_ENST00000479871.1_5'UTR|C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000374169.3_Intron|C9orf43_ENST00000288462.4_5'Flank	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit						DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	TCTCTGCACAAAAAAGCTAAA	0.453																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.153-147T>G	9.37:g.116172155A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	RNA	SNP	-	NULL	ENST00000374171.4	37	NULL	CCDS6795.1	9																																																																																			POLE3	-	-	ENSG00000148229		0.453	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	POLE3	HGNC	protein_coding	OTTHUMT00000053730.1	72	0.00	0	A	NM_017443		116172155	116172155	-1	no_errors	ENST00000479871	ensembl	human	known	69_37n	rna	35	10.26	4	SNP	0.023	C
POLK	51426	genome.wustl.edu	37	5	74892346	74892346	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:74892346T>G	ENST00000241436.4	+	13	2000	c.1828T>G	c.(1828-1830)Ttg>Gtg	p.L610V	POLK_ENST00000352007.5_Missense_Mutation_p.L412V|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.L412V|POLK_ENST00000506928.1_3'UTR|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000380481.3_Missense_Mutation_p.L520V	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	610					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GAATGAGAATTTGGAAATATC	0.378								DNA polymerases (catalytic subunits)																														dbGAP											0													96.0	99.0	98.0					5																	74892346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1828T>G	5.37:g.74892346T>G	ENSP00000241436:p.Leu610Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.L610V	ENST00000241436.4	37	c.1828	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	T	14.35	2.507799	0.44558	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.55052	1.27;0.54;0.54;1.27	5.15	-1.76	0.08006	.	1.327050	0.04717	N	0.418637	T	0.41627	0.1167	L	0.54323	1.7	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.002	T	0.12268	-1.0554	10	0.26408	T	0.33	0.1643	1.5528	0.02578	0.1282:0.2218:0.1329:0.5171	.	412;610	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	V	610;412;412;520	ENSP00000241436:L610V;ENSP00000342256:L412V;ENSP00000426853:L412V;ENSP00000369848:L520V	ENSP00000241436:L610V	L	+	1	2	POLK	74928102	0.000000	0.05858	0.003000	0.11579	0.739000	0.42172	-0.090000	0.11163	-0.305000	0.08831	0.533000	0.62120	TTG	POLK	-	NULL	ENSG00000122008		0.378	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	89	0.00	0	T	NM_016218		74892346	74892346	+1	no_errors	ENST00000241436	ensembl	human	known	69_37n	missense	59	41.58	42	SNP	0.000	G
POLL	27343	genome.wustl.edu	37	10	103344476	103344476	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:103344476C>T	ENST00000370162.3	-	5	1268	c.774G>A	c.(772-774)gaG>gaA	p.E258E	POLL_ENST00000463515.1_5'Flank|POLL_ENST00000370172.1_Silent_p.E170E|DPCD_ENST00000470165.1_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000436284.2_Missense_Mutation_p.R116K|POLL_ENST00000370158.3_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_Silent_p.E258E|POLL_ENST00000456836.2_Intron|POLL_ENST00000370169.1_Silent_p.E258E	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	258					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CTTCCAGCTTCTCTGTGATAT	0.557								DNA polymerases (catalytic subunits)																														dbGAP											0													62.0	58.0	59.0					10																	103344476		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.774G>A	10.37:g.103344476C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	superfamily_BRCT_dom,pfscan_BRCT_dom	p.R116K	ENST00000370162.3	37	c.347	CCDS7513.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964082	0.74131	.	.	ENSG00000166169	ENST00000370164;ENST00000436284;ENST00000454524	.	.	.	6.04	4.2	0.49525	.	.	.	.	.	T	0.37892	0.1020	.	.	.	0.28756	N	0.901192	B	0.20671	0.047	B	0.19946	0.027	T	0.36866	-0.9730	7	0.87932	D	0	-2.576	8.3141	0.32088	0.0:0.7371:0.1281:0.1348	.	116	B7Z1M4	.	K	116	.	ENSP00000359183:R116K	R	-	2	0	POLL	103334466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.083000	0.57643	0.895000	0.36342	0.561000	0.74099	AGA	POLL	-	NULL	ENSG00000166169		0.557	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	POLL	HGNC	protein_coding	OTTHUMT00000049946.1	44	0.00	0	C	NM_013274		103344476	103344476	-1	no_errors	ENST00000436284	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	T
POLQ	10721	genome.wustl.edu	37	3	121207340	121207340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121207340C>A	ENST00000264233.5	-	16	4566	c.4438G>T	c.(4438-4440)Gaa>Taa	p.E1480*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1480					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAACTTGTTTCAGGAACTGGA	0.358								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													82.0	82.0	82.0					3																	121207340		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4438G>T	3.37:g.121207340C>A	ENSP00000264233:p.Glu1480*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.E1480*	ENST00000264233.5	37	c.4438	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	44	10.703257	0.99453	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.74	5.74	0.90152	.	0.286088	0.38164	N	0.001790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.9072	0.92467	0.0:1.0:0.0:0.0	.	.	.	.	X	1103;1480;1616	.	ENSP00000264233:E1480X	E	-	1	0	POLQ	122690030	1.000000	0.71417	0.993000	0.49108	0.736000	0.42039	4.500000	0.60387	2.710000	0.92621	0.655000	0.94253	GAA	POLQ	-	NULL	ENSG00000051341		0.358	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	162	0.00	0	C	NM_199420		121207340	121207340	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	nonsense	108	16.28	21	SNP	1.000	A
POLR1A	25885	genome.wustl.edu	37	2	86297213	86297213	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:86297213G>T	ENST00000263857.6	-	13	2172	c.1794C>A	c.(1792-1794)ttC>ttA	p.F598L	POLR1A_ENST00000409681.1_Missense_Mutation_p.F598L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	598					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACTCTGGGGGAAATGGGCAT	0.587																																						dbGAP											0													49.0	51.0	50.0					2																	86297213		2029	4178	6207	-	-	-	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1794C>A	2.37:g.86297213G>T	ENSP00000263857:p.Phe598Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.F598L	ENST00000263857.6	37	c.1794	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437248	0.62955	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.73789	-0.78;-0.78	5.3	3.45	0.39498	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	N	0.11106	0.095	0.52099	D	0.999945	P	0.45827	0.867	P	0.58577	0.841	T	0.70360	-0.4893	10	0.54805	T	0.06	-22.7549	10.7013	0.45928	0.1621:0.0:0.8379:0.0	.	598	O95602	RPA1_HUMAN	L	598	ENSP00000263857:F598L;ENSP00000386300:F598L	ENSP00000263857:F598L	F	-	3	2	POLR1A	86150724	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.111000	0.31159	0.579000	0.29504	0.655000	0.94253	TTC	POLR1A	-	pfam_RNA_pol_asu,smart_RNA_pol_N	ENSG00000068654		0.587	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	106	0.00	0	G	NM_015425		86297213	86297213	-1	no_errors	ENST00000263857	ensembl	human	known	69_37n	missense	97	14.16	16	SNP	1.000	T
POLR2A	5430	genome.wustl.edu	37	17	7407065	7407065	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7407065C>T	ENST00000322644.6	+	19	3594	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1065					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAGGCCTTCGACTGGCTGC	0.542																																						dbGAP											0													69.0	58.0	62.0					17																	7407065		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3195C>T	17.37:g.7407065C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN93|B9EH88|Q6NX41	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.F1065	ENST00000322644.6	37	c.3195	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6	ENSG00000181222		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	185	0.00	0	C	NM_000937		7407065	7407065	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	silent	44	50.00	44	SNP	0.997	T
POLR2M	81488	genome.wustl.edu	37	15	58001341	58001341	+	Silent	SNP	G	G	A	rs138355131	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:58001341G>A	ENST00000299638.3	+	2	757	c.543G>A	c.(541-543)gcG>gcA	p.A181A	GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000464308.1_3'UTR|POLR2M_ENST00000380557.4_Intron|GCOM1_ENST00000587652.1_Silent_p.A578A|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380563.2_Silent_p.A181A|GCOM1_ENST00000484300.1_Intron	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	181					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										CAAGTCAAGCGGAAGATACTT	0.483													A|||	4	0.000798722	0.003	0.0	5008	,	,		22223	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													62.0	58.0	59.0					15																	58001341		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.543G>A	15.37:g.58001341G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Silent	SNP	NULL	p.A181	ENST00000299638.3	37	c.543	CCDS32252.1	15																																																																																			POLR2M	-	NULL	ENSG00000255529		0.483	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2M	HGNC	protein_coding	OTTHUMT00000255719.2	120	0.00	0	G			58001341	58001341	+1	no_errors	ENST00000299638	ensembl	human	known	69_37n	silent	114	10.94	14	SNP	0.275	A
POM121	9883	genome.wustl.edu	37	7	72416246	72416246	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72416246C>T	ENST00000434423.2	+	12	3651	c.3651C>T	c.(3649-3651)ttC>ttT	p.F1217F	POM121_ENST00000446813.1_Splice_Site_p.F952F|POM121_ENST00000395270.1_Splice_Site_p.F952F|NSUN5P2_ENST00000388955.4_RNA|POM121_ENST00000257622.4_Splice_Site_p.F952F|POM121_ENST00000358357.3_Splice_Site_p.F952F			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1217	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTGCACCTTTCGGTAAGCAGC	0.627																																						dbGAP											0													23.0	20.0	21.0					7																	72416246		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3652+1C>T	7.37:g.72416246C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.F1217	ENST00000434423.2	37	c.3651		7																																																																																			POM121	-	NULL	ENSG00000196313		0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	115	0.00	0	C		Silent	72416246	72416246	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	silent	75	24.75	25	SNP	0.956	T
POMP	51371	genome.wustl.edu	37	13	29252186	29252186	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:29252186G>A	ENST00000380842.4	+	6	454	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	125					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		ATCACAAAGCGAAGTCATGGG	0.368																																						dbGAP											0													213.0	193.0	200.0					13																	29252186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.373G>A	13.37:g.29252186G>A	ENSP00000370222:p.Glu125Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5HKJ2|D6MXU3|Q9HB69	Missense_Mutation	SNP	pfam_UMP1	p.E125K	ENST00000380842.4	37	c.373	CCDS9331.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.372655	0.95923	.	.	ENSG00000132963	ENST00000380842	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88839	0.3311	9	0.52906	T	0.07	-9.3518	18.5933	0.91222	0.0:0.0:1.0:0.0	.	125	Q9Y244	POMP_HUMAN	K	125	.	ENSP00000370222:E125K	E	+	1	0	POMP	28150186	1.000000	0.71417	0.932000	0.37286	0.945000	0.59286	8.839000	0.92120	2.678000	0.91216	0.655000	0.94253	GAA	POMP	-	pfam_UMP1	ENSG00000132963		0.368	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	456	0.00	0	G	NM_015932		29252186	29252186	+1	no_errors	ENST00000380842	ensembl	human	known	69_37n	missense	277	16.01	53	SNP	1.000	A
POMT1	10585	genome.wustl.edu	37	9	134385144	134385144	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:134385144G>T	ENST00000372228.3	+	7	733	c.554G>T	c.(553-555)aGc>aTc	p.S185I	POMT1_ENST00000354713.4_Missense_Mutation_p.S155I|POMT1_ENST00000402686.3_Missense_Mutation_p.S185I|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Missense_Mutation_p.S68I|POMT1_ENST00000419118.2_Missense_Mutation_p.S33I|POMT1_ENST00000341012.7_Missense_Mutation_p.S131I|POMT1_ENST00000423007.1_Missense_Mutation_p.S185I	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	185					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTTTCTCTGAGCTGGTGGTTC	0.478																																						dbGAP											0													189.0	172.0	178.0					9																	134385144		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.554G>T	9.37:g.134385144G>T	ENSP00000361302:p.Ser185Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	p.S185I	ENST00000372228.3	37	c.554	CCDS6943.1	9	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964937	0.34659	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000354713;ENST00000448212;ENST00000430619	D;D;D;D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.76	1.59	0.23543	Glycosyl transferase, family 39 (1);	0.667620	0.16166	N	0.226510	D	0.88028	0.6327	M	0.79258	2.445	0.09310	N	0.999997	P;P;P	0.38129	0.619;0.601;0.565	P;B;B	0.46389	0.515;0.328;0.272	T	0.79415	-0.1813	10	0.49607	T	0.09	-29.6743	6.5398	0.22375	0.1467:0.2762:0.5771:0.0	.	155;185;185	B4DTW4;Q9Y6A1;Q9Y6A1-2	.;POMT1_HUMAN;.	I	185;68;131;68;185;185;33;155;131;68	ENSP00000404119:S185I;ENSP00000384531:S68I;ENSP00000343034:S131I;ENSP00000395060:S68I;ENSP00000361302:S185I;ENSP00000385797:S185I;ENSP00000403032:S33I;ENSP00000346748:S155I;ENSP00000403736:S131I;ENSP00000402083:S68I	ENSP00000343034:S131I	S	+	2	0	POMT1	133374965	0.230000	0.23740	0.082000	0.20525	0.903000	0.53119	1.070000	0.30653	0.323000	0.23307	0.655000	0.94253	AGC	POMT1	-	pfam_Glyco_trans_39	ENSG00000130714		0.478	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	623	0.00	0	G	NM_007171		134385144	134385144	+1	no_errors	ENST00000372228	ensembl	human	known	69_37n	missense	512	14.24	85	SNP	0.044	T
POP5	51367	genome.wustl.edu	37	12	121017626	121017626	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:121017626C>A	ENST00000357500.4	-	3	299	c.264G>T	c.(262-264)gaG>gaT	p.E88D	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_Intron	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	88					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					GTCCTTTGTTCTCCAAGTATG	0.428																																						dbGAP											0													147.0	124.0	132.0					12																	121017626		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.264G>T	12.37:g.121017626C>A	ENSP00000350098:p.Glu88Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL80|Q53FS5|Q9Y2Q6	Missense_Mutation	SNP	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	p.E88D	ENST00000357500.4	37	c.264	CCDS9202.1	12	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588674	0.28357	.	.	ENSG00000167272	ENST00000357500	.	.	.	5.5	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.31845	0.965	0.41672	D	0.989241	P	0.41978	0.767	P	0.49752	0.621	T	0.29181	-1.0020	9	0.11794	T	0.64	-19.1937	5.4785	0.16710	0.1369:0.6374:0.0:0.2258	.	88	Q969H6	POP5_HUMAN	D	88	.	ENSP00000350098:E88D	E	-	3	2	POP5	119502009	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.594000	0.36697	0.259000	0.21709	-0.137000	0.14449	GAG	POP5	-	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	ENSG00000167272		0.428	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP5	HGNC	protein_coding	OTTHUMT00000401993.1	231	0.00	0	C	NM_015918		121017626	121017626	-1	no_errors	ENST00000357500	ensembl	human	known	69_37n	missense	111	23.97	35	SNP	1.000	A
POP5	51367	genome.wustl.edu	37	12	121017676	121017676	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:121017676C>A	ENST00000357500.4	-	3	249	c.214G>T	c.(214-216)Gaa>Taa	p.E72*	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_Intron	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	72					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					TGATAGAATTCTTTTCTGCAT	0.408																																						dbGAP											0													117.0	110.0	112.0					12																	121017676		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.214G>T	12.37:g.121017676C>A	ENSP00000350098:p.Glu72*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL80|Q53FS5|Q9Y2Q6	Nonsense_Mutation	SNP	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	p.E72*	ENST00000357500.4	37	c.214	CCDS9202.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.218968	0.95104	.	.	ENSG00000167272	ENST00000357500	.	.	.	5.5	5.5	0.81552	.	0.488693	0.25397	N	0.030977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-12.4266	19.3927	0.94590	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000350098:E72X	E	-	1	0	POP5	119502059	0.977000	0.34250	0.996000	0.52242	0.973000	0.67179	3.285000	0.51716	2.578000	0.87016	0.655000	0.94253	GAA	POP5	-	pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5	ENSG00000167272		0.408	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP5	HGNC	protein_coding	OTTHUMT00000401993.1	273	0.00	0	C	NM_015918		121017676	121017676	-1	no_errors	ENST00000357500	ensembl	human	known	69_37n	nonsense	99	27.21	37	SNP	0.999	A
POPDC3	64208	genome.wustl.edu	37	6	105609644	105609644	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:105609644G>T	ENST00000254765.3	-	2	419	c.141C>A	c.(139-141)ttC>ttA	p.F47L	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	47					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGAGCCCGAAGAATCCACTGC	0.478																																						dbGAP											0													81.0	90.0	87.0					6																	105609644		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.141C>A	6.37:g.105609644G>T	ENSP00000254765:p.Phe47Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.F47L	ENST00000254765.3	37	c.141	CCDS5052.1	6	.	.	.	.	.	.	.	.	.	.	G	9.573	1.121473	0.20877	.	.	ENSG00000132429	ENST00000254765	T	0.41758	0.99	5.72	5.72	0.89469	.	0.156689	0.64402	D	0.000020	T	0.15132	0.0365	L	0.31207	0.915	0.46798	D	0.999205	B	0.22800	0.075	B	0.14023	0.01	T	0.05354	-1.0890	10	0.10636	T	0.68	-7.7217	14.077	0.64895	0.0719:0.0:0.9281:0.0	.	47	Q9HBV1	POPD3_HUMAN	L	47	ENSP00000254765:F47L	ENSP00000254765:F47L	F	-	3	2	POPDC3	105716337	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	1.405000	0.34635	2.704000	0.92352	0.655000	0.94253	TTC	POPDC3	-	NULL	ENSG00000132429		0.478	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POPDC3	HGNC	protein_coding	OTTHUMT00000041651.1	192	0.00	0	G	NM_022361		105609644	105609644	-1	no_errors	ENST00000254765	ensembl	human	known	69_37n	missense	201	15.55	37	SNP	1.000	T
PORCN	64840	genome.wustl.edu	37	X	48369815	48369815	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48369815G>A	ENST00000326194.6	+	2	312	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000537758.1_Missense_Mutation_p.R90Q|PORCN_ENST00000355961.4_Missense_Mutation_p.R90Q|PORCN_ENST00000361988.3_Missense_Mutation_p.R90Q|PORCN_ENST00000359882.4_Missense_Mutation_p.R90Q|PORCN_ENST00000367574.4_Missense_Mutation_p.R19Q|PORCN_ENST00000355092.3_Missense_Mutation_p.R90Q	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	90					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCCTCTGCCGACATTCCTCC	0.552											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													305.0	217.0	247.0					X																	48369815		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.269G>A	X.37:g.48369815G>A	ENSP00000322304:p.Arg90Gln	Somatic	954	WXS	Illumina GAIIx	Phase_IV	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R90Q	ENST00000326194.6	37	c.269	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228720	0.58777	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D;D	0.97850	-3.56;-4.57;-3.25;-3.56;-2.49;-3.56;-4.57;-3.56	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.96081	0.8723	M	0.63428	1.95	0.58432	D	0.999996	P;P;P;B;P;D	0.61697	0.534;0.757;0.482;0.282;0.534;0.99	B;B;B;B;B;P	0.46718	0.086;0.133;0.04;0.086;0.086;0.525	D	0.93313	0.6686	10	0.20046	T	0.44	-3.1779	8.813	0.34978	0.1064:0.0:0.8936:0.0	.	90;90;19;90;90;90	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.;.	Q	90;90;19;90;90;90;90;90	ENSP00000352946:R90Q;ENSP00000446401:R90Q;ENSP00000356546:R19Q;ENSP00000348233:R90Q;ENSP00000419212:R90Q;ENSP00000354978:R90Q;ENSP00000322304:R90Q;ENSP00000347207:R90Q	ENSP00000322304:R90Q	R	+	2	0	PORCN	48254759	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.400000	0.90200	1.003000	0.39130	0.436000	0.28706	CGA	PORCN	-	NULL	ENSG00000102312		0.552	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	128	0.00	0	G	NM_022825		48369815	48369815	+1	no_errors	ENST00000326194	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130858275	130858275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:130858275C>A	ENST00000409914.2	-	10	1615	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	POTEF_ENST00000360967.5_Intron|POTEF_ENST00000361163.4_Missense_Mutation_p.R392I|POTEF_ENST00000357462.5_Nonsense_Mutation_p.E406*	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	406					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTATTTATTTCTGGTTCTTGA	0.318																																						dbGAP											0													9.0	12.0	11.0					2																	130858275		1764	3685	5449	-	-	-	SO:0001587	stop_gained	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.1216G>T	2.37:g.130858275C>A	ENSP00000386786:p.Glu406*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC34	Nonsense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E406*	ENST00000409914.2	37	c.1216	CCDS46409.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.77|17.77	3.470825|3.470825	0.63625|0.63625	.|.	.|.	ENSG00000196604|ENSG00000196604	ENST00000357462;ENST00000409914|ENST00000361163	.|T	.|0.26373	.|1.74	0.971|0.971	0.971|0.971	0.19698|0.19698	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24084	.|0.0583	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23190	.|-1.0195	.|6	0.87932|0.54805	D|T	0|0.06	.|.	5.3499|5.3499	0.16030|0.16030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	406|392	.|ENSP00000355012:R392I	ENSP00000350052:E406X|ENSP00000355012:R392I	E|R	-|-	1|2	0|0	POTEF|POTEF	130574745|130574745	0.021000|0.021000	0.18746|0.18746	0.029000|0.029000	0.17559|0.17559	0.028000|0.028000	0.11728|0.11728	1.284000|1.284000	0.33249|0.33249	0.840000|0.840000	0.34995|0.34995	0.175000|0.175000	0.17021|0.17021	GAA|AGA	POTEF	-	NULL	ENSG00000196604		0.318	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	379	0.00	0	C	NM_001099771		130858275	130858275	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	nonsense	190	22.45	55	SNP	0.044	A
POU3F4	5456	genome.wustl.edu	37	X	82764286	82764286	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:82764286G>T	ENST00000373200.2	+	1	1018	c.954G>T	c.(952-954)gaG>gaT	p.E318D	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	318					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCCAGTTGGAGAAGGAAGTGG	0.552																																						dbGAP											0													32.0	26.0	28.0					X																	82764286		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.954G>T	X.37:g.82764286G>T	ENSP00000362296:p.Glu318Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.E318D	ENST00000373200.2	37	c.954	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942331	0.73672	.	.	ENSG00000196767	ENST00000373200	D	0.95622	-3.76	5.07	5.07	0.68467	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	N	0.10837	0.055	0.80722	D	1	B	0.20459	0.045	B	0.34779	0.189	D	0.88832	0.3306	10	0.56958	D	0.05	.	17.4614	0.87620	0.0:0.0:1.0:0.0	.	318	P49335	PO3F4_HUMAN	D	318	ENSP00000362296:E318D	ENSP00000362296:E318D	E	+	3	2	POU3F4	82650942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.410000	0.73294	2.244000	0.73946	0.525000	0.51046	GAG	POU3F4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,prints_POU	ENSG00000196767		0.552	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	123	0.00	0	G	NM_000307		82764286	82764286	+1	no_errors	ENST00000373200	ensembl	human	known	69_37n	missense	80	20.79	21	SNP	1.000	T
RNF219	79596	genome.wustl.edu	37	13	79191265	79191265	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:79191265G>T	ENST00000282003.6	-	6	697				RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219								zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AACCTACAAAGAATGGAAAGA	0.403																																						dbGAP											0													53.0	53.0	53.0					13																	79191265		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.639-8C>A	13.37:g.79191265G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	RNA	SNP	-	NULL	ENST00000282003.6	37	NULL	CCDS31997.1	13																																																																																			POU4F1-AS1	-	-	ENSG00000234377		0.403	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F1-AS1	HGNC	protein_coding	OTTHUMT00000045363.1	82	0.00	0	G	NM_024546		79191265	79191265	+1	no_errors	ENST00000560584	ensembl	human	known	69_37n	rna	62	19.23	15	SNP	0.427	T
POU4F2	5458	genome.wustl.edu	37	4	147561059	147561059	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:147561059G>A	ENST00000281321.3	+	2	577	c.329G>A	c.(328-330)cGc>cAc	p.R110H	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	110					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CTGCTGGCCCGCGCCGAGGCT	0.597																																						dbGAP											0													44.0	70.0	61.0					4																	147561059		2202	4299	6501	-	-	-	SO:0001583	missense	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.329G>A	4.37:g.147561059G>A	ENSP00000281321:p.Arg110His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.R110H	ENST00000281321.3	37	c.329	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005752	0.74932	.	.	ENSG00000151615	ENST00000281321	D	0.82893	-1.66	5.9	5.9	0.94986	.	0.106321	0.64402	D	0.000003	D	0.89619	0.6767	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.87877	0.2675	10	0.40728	T	0.16	.	19.0437	0.93011	0.0:0.0:1.0:0.0	.	110	Q12837	PO4F2_HUMAN	H	110	ENSP00000281321:R110H	ENSP00000281321:R110H	R	+	2	0	POU4F2	147780509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.666000	0.98612	2.793000	0.96121	0.563000	0.77884	CGC	POU4F2	-	NULL	ENSG00000151615		0.597	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	530	0.00	0	G	NM_004575		147561059	147561059	+1	no_errors	ENST00000281321	ensembl	human	known	69_37n	missense	219	13.62	35	SNP	1.000	A
POU4F2	5458	genome.wustl.edu	37	4	147561724	147561724	+	Missense_Mutation	SNP	G	G	A	rs267600031		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:147561724G>A	ENST00000281321.3	+	2	1242	c.994G>A	c.(994-996)Gag>Aag	p.E332K	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	332					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GTCCCACCGCGAGAAGCTCAC	0.587																																						dbGAP											0													75.0	79.0	78.0					4																	147561724		2203	4300	6503	-	-	-	SO:0001583	missense	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.994G>A	4.37:g.147561724G>A	ENSP00000281321:p.Glu332Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.E332K	ENST00000281321.3	37	c.994	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272946	0.59649	.	.	ENSG00000151615	ENST00000281321	D	0.83506	-1.73	5.49	5.49	0.81192	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	L	0.45352	1.415	0.80722	D	1	P	0.47604	0.898	B	0.34038	0.174	T	0.80495	-0.1357	10	0.54805	T	0.06	.	19.37	0.94480	0.0:0.0:1.0:0.0	.	332	Q12837	PO4F2_HUMAN	K	332	ENSP00000281321:E332K	ENSP00000281321:E332K	E	+	1	0	POU4F2	147781174	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.035000	0.88872	2.595000	0.87683	0.561000	0.74099	GAG	POU4F2	-	superfamily_Homeodomain-like	ENSG00000151615		0.587	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	86	0.00	0	G	NM_004575		147561724	147561724	+1	no_errors	ENST00000281321	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	1.000	A
POU5F2	134187	genome.wustl.edu	37	5	93076473	93076473	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:93076473C>T	ENST00000510627.4	-	1	870	c.797G>A	c.(796-798)aGt>aAt	p.S266N	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	266					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GGTTGGTCGACTGCCCATCTT	0.592																																						dbGAP											0													48.0	51.0	50.0					5																	93076473		2003	4156	6159	-	-	-	SO:0001583	missense	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.797G>A	5.37:g.93076473C>T	ENSP00000464890:p.Ser266Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.S266N	ENST00000510627.4	37	c.797	CCDS59489.1	5																																																																																			POU5F2	-	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000248483		0.592	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	147	0.00	0	C	NM_153216		93076473	93076473	-1	no_errors	ENST00000510627	ensembl	human	known	69_37n	missense	57	30.95	26	SNP	0.436	T
POU6F2	11281	genome.wustl.edu	37	7	39472786	39472786	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:39472786C>T	ENST00000403058.1	+	8	1291	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	POU6F2_ENST00000518318.2_Silent_p.A379A|POU6F2_ENST00000559001.1_Silent_p.A324A	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	379	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCACAAACGCCCAGGGCCAGA	0.602																																						dbGAP											0													115.0	91.0	99.0					7																	39472786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1137C>T	7.37:g.39472786C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.A379	ENST00000403058.1	37	c.1137	CCDS34620.2	7																																																																																			POU6F2	-	NULL	ENSG00000106536		0.602	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	103	0.00	0	C	NM_007252		39472786	39472786	+1	no_errors	ENST00000403058	ensembl	human	known	69_37n	silent	81	19.00	19	SNP	1.000	T
PPA1	5464	genome.wustl.edu	37	10	71977630	71977630	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:71977630G>A	ENST00000373232.3	-	4	334	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	PPA1_ENST00000495346.1_5'Flank|PPA1_ENST00000608321.1_Missense_Mutation_p.R79C	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	79					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						GCAACATAGCGAAGTTTTCCT	0.353																																						dbGAP											0													98.0	91.0	94.0					10																	71977630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.235C>T	10.37:g.71977630G>A	ENSP00000362329:p.Arg79Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	p.R79C	ENST00000373232.3	37	c.235	CCDS7299.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.339084	0.95783	.	.	ENSG00000180817	ENST00000373232;ENST00000373230	T;T	0.50548	0.74;0.74	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86200	0.1618	10	0.87932	D	0	-30.0135	19.2163	0.93780	0.0:0.0:1.0:0.0	.	79	Q15181	IPYR_HUMAN	C	79	ENSP00000362329:R79C;ENSP00000362327:R79C	ENSP00000362327:R79C	R	-	1	0	PPA1	71647636	1.000000	0.71417	0.878000	0.34440	0.981000	0.71138	9.669000	0.98622	2.890000	0.99128	0.585000	0.79938	CGC	PPA1	-	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	ENSG00000180817		0.353	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPA1	HGNC	protein_coding	OTTHUMT00000048490.2	284	0.00	0	G	NM_021129		71977630	71977630	-1	no_errors	ENST00000373232	ensembl	human	known	69_37n	missense	197	14.66	34	SNP	1.000	A
PPAP2A	8611	genome.wustl.edu	37	5	54721768	54721768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:54721768G>A	ENST00000307259.8	-	5	1069	c.649C>T	c.(649-651)Cga>Tga	p.R217*	PPAP2A_ENST00000264775.5_Nonsense_Mutation_p.R218*	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	217					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCAGAAACTCGAGAAAGGCCC	0.463																																						dbGAP											0													104.0	103.0	104.0					5																	54721768		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.649C>T	5.37:g.54721768G>A	ENSP00000302229:p.Arg217*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Nonsense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R218*	ENST00000307259.8	37	c.652	CCDS34159.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.245717	0.97408	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	.	.	.	5.46	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4326	13.8597	0.63552	0.0:0.0:0.6001:0.3999	.	.	.	.	X	218;217	.	ENSP00000264775:R218X	R	-	1	2	PPAP2A	54757525	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	2.832000	0.48152	0.755000	0.32990	0.563000	0.77884	CGA	PPAP2A	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000067113		0.463	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2A	HGNC	protein_coding	OTTHUMT00000368073.1	191	0.52	1	G			54721768	54721768	-1	no_errors	ENST00000264775	ensembl	human	known	69_37n	nonsense	147	10.84	18	SNP	1.000	A
PPAPDC1A	196051	genome.wustl.edu	37	10	122280493	122280493	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:122280493G>A	ENST00000398250.1	+	5	683	c.331G>A	c.(331-333)Gat>Aat	p.D111N	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.D111N|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.D101N	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	111					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ACCTCGCCCCGATTTCTTTTA	0.532																																						dbGAP											0													90.0	89.0	89.0					10																	122280493		1874	4097	5971	-	-	-	SO:0001583	missense	0			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.331G>A	10.37:g.122280493G>A	ENSP00000381302:p.Asp111Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.D111N	ENST00000398250.1	37	c.331	CCDS41573.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.349424	0.95830	.	.	ENSG00000203805	ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.75	5.75	0.90469	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.981	D	0.87135	0.2199	10	0.51188	T	0.08	-13.5797	19.9598	0.97242	0.0:0.0:1.0:0.0	.	111;111	B7Z3R3;Q5VZY2	.;PPC1A_HUMAN	N	111;111;111;101	ENSP00000381302:D111N;ENSP00000407979:D111N;ENSP00000440493:D111N;ENSP00000358069:D101N	ENSP00000358069:D101N	D	+	1	0	PPAPDC1A	122270483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.716000	0.92895	0.655000	0.94253	GAT	PPAPDC1A	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000203805		0.532	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC1A	HGNC	protein_coding		81	0.00	0	G	XM_113641		122280493	122280493	+1	no_errors	ENST00000398250	ensembl	human	known	69_37n	missense	40	26.79	15	SNP	1.000	A
PPARA	5465	genome.wustl.edu	37	22	46615733	46615733	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:46615733G>T	ENST00000396000.2	+	6	798	c.533G>T	c.(532-534)aGa>aTa	p.R178I	PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Missense_Mutation_p.R178I|PPARA_ENST00000262735.5_Missense_Mutation_p.R178I|PPARA_ENST00000407236.1_Missense_Mutation_p.R178I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	178					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CGAATGCCAAGATCTGAGAAA	0.488																																						dbGAP											0													83.0	78.0	80.0					22																	46615733		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.533G>T	22.37:g.46615733G>T	ENSP00000379322:p.Arg178Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R178I	ENST00000396000.2	37	c.533	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	G	16.11	3.028964	0.54790	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.51	5.51	0.81932	Nuclear hormone receptor, ligand-binding (1);	0.046945	0.85682	D	0.000000	D	0.94072	0.8100	L	0.44542	1.39	0.80722	D	1	P;P	0.44478	0.836;0.836	B;B	0.43386	0.418;0.418	D	0.94704	0.7886	10	0.72032	D	0.01	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	178;178	F1D8S4;Q07869	.;PPARA_HUMAN	I	178	ENSP00000379322:R178I;ENSP00000262735:R178I;ENSP00000385523:R178I;ENSP00000385246:R178I	ENSP00000262735:R178I	R	+	2	0	PPARA	44994397	1.000000	0.71417	0.128000	0.21923	0.327000	0.28475	4.773000	0.62331	2.575000	0.86900	0.555000	0.69702	AGA	PPARA	-	NULL	ENSG00000186951		0.488	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	140	0.71	1	G	NM_001001928		46615733	46615733	+1	no_errors	ENST00000262735	ensembl	human	known	69_37n	missense	103	32.68	50	SNP	0.971	T
PPAT	5471	genome.wustl.edu	37	4	57265430	57265430	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:57265430C>A	ENST00000264220.2	-	9	1288	c.1151G>T	c.(1150-1152)aGa>aTa	p.R384I	PPAT_ENST00000507648.1_5'Flank|RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	384					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	AAGAACAATTCTTTTGCCTTT	0.353																																						dbGAP											0													126.0	124.0	125.0					4																	57265430		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1151G>T	4.37:g.57265430C>A	ENSP00000264220:p.Arg384Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.R384I	ENST00000264220.2	37	c.1151	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703213	0.88924	.	.	ENSG00000128059	ENST00000264220	D	0.99466	-5.95	5.45	4.61	0.57282	Phosphoribosyltransferase (1);	0.048403	0.85682	D	0.000000	D	0.99597	0.9854	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.97887	1.0295	10	0.87932	D	0	-17.9839	14.3927	0.66991	0.0:0.9284:0.0:0.0716	.	384	Q06203	PUR1_HUMAN	I	384	ENSP00000264220:R384I	ENSP00000264220:R384I	R	-	2	0	PPAT	56960187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.734000	0.84928	1.422000	0.47177	0.650000	0.86243	AGA	PPAT	-	pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	ENSG00000128059		0.353	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	HGNC	protein_coding	OTTHUMT00000250781.2	276	0.00	0	C	NM_002703		57265430	57265430	-1	no_errors	ENST00000264220	ensembl	human	known	69_37n	missense	172	15.69	32	SNP	1.000	A
PPEF2	5470	genome.wustl.edu	37	4	76797712	76797712	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:76797712C>T	ENST00000286719.7	-	11	1404	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	350	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.E350*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCGGCTTTCGGGGAGAAAC	0.587																																					NSCLC(105;1359 1603 15961 44567 47947)	dbGAP											1	Substitution - Nonsense(1)	lung(1)											77.0	79.0	79.0					4																	76797712		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1048G>A	4.37:g.76797712C>T	ENSP00000286719:p.Glu350Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14831	Missense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_HAND_2	p.E350K	ENST00000286719.7	37	c.1048	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	C	1.823	-0.471823	0.04445	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.38560	1.13	5.02	1.84	0.25277	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	4.339300	0.01165	N	0.006723	T	0.28863	0.0716	N	0.16602	0.42	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18209	-1.0344	10	0.10902	T	0.67	-1.0892	9.732	0.40366	0.0:0.4073:0.4574:0.1353	.	350;350	O14830-2;O14830	.;PPE2_HUMAN	K	350	ENSP00000286719:E350K	ENSP00000286719:E350K	E	-	1	0	PPEF2	77016736	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	0.188000	0.17018	0.493000	0.27837	-0.347000	0.07816	GAA	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase	ENSG00000156194		0.587	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	161	0.00	0	C	NM_006239		76797712	76797712	-1	no_errors	ENST00000286719	ensembl	human	known	69_37n	missense	86	32.28	41	SNP	0.000	T
PPFIA2	8499	genome.wustl.edu	37	12	81762606	81762606	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:81762606C>T	ENST00000549396.1	-	13	1540	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	PPFIA2_ENST00000549325.1_Silent_p.E442E|PPFIA2_ENST00000550584.2_Silent_p.E460E|PPFIA2_ENST00000443686.3_Silent_p.E361E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.E307E|PPFIA2_ENST00000407050.4_Silent_p.E386E|PPFIA2_ENST00000333447.7_Silent_p.E442E|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Silent_p.E27E|PPFIA2_ENST00000548586.1_Silent_p.E460E|PPFIA2_ENST00000552948.1_Silent_p.E460E	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	460	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTTGTTATGCTCCTCATTCA	0.338																																						dbGAP											0													226.0	209.0	214.0					12																	81762606		1833	4093	5926	-	-	-	SO:0001819	synonymous_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1380G>A	12.37:g.81762606C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A386T	ENST00000549396.1	37	c.1156	CCDS55857.1	12																																																																																			PPFIA2	-	NULL	ENSG00000139220		0.338	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	906	0.00	0	C			81762606	81762606	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550359	ensembl	human	known	69_37n	missense	540	25.07	181	SNP	0.979	T
PPFIBP2	8495	genome.wustl.edu	37	11	7647047	7647047	+	Missense_Mutation	SNP	G	G	T	rs148281709		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7647047G>T	ENST00000299492.4	+	8	1139	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.D139Y|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.D108Y|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.D93Y	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	251					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCCCTGAAAGATGCAGAAAT	0.532																																						dbGAP											0													77.0	73.0	74.0					11																	7647047		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.751G>T	11.37:g.7647047G>T	ENSP00000299492:p.Asp251Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D251Y	ENST00000299492.4	37	c.751	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499356	0.85069	.	.	ENSG00000166387	ENST00000299492;ENST00000529575;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	6.05	6.05	0.98169	Integrase, Tn916-type, N-terminal DNA binding (1);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.46157	1.445	0.45930	D	0.998762	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.986;1.0;0.996;1.0;0.998	T	0.74548	-0.3629	10	0.66056	D	0.02	-19.793	16.1033	0.81203	0.0:0.0:1.0:0.0	.	139;139;174;108;251	E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	Y	251;93;93;93;174;139;108	ENSP00000299492:D251Y;ENSP00000436498:D93Y;ENSP00000435469:D139Y;ENSP00000437321:D108Y	ENSP00000299492:D251Y	D	+	1	0	PPFIBP2	7603623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.076000	0.76806	2.875000	0.98604	0.643000	0.83706	GAT	PPFIBP2	-	pfam_Integrase_Tn916-type_DNA-bd_N	ENSG00000166387		0.532	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	225	0.00	0	G	NM_003621		7647047	7647047	+1	no_errors	ENST00000299492	ensembl	human	known	69_37n	missense	143	15.38	26	SNP	1.000	T
PPFIBP2	8495	genome.wustl.edu	37	11	7674313	7674313	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7674313C>T	ENST00000299492.4	+	24	2883	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S720L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S689L|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S674L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	832					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TTCGATGAATCGACGGACTAC	0.473																																						dbGAP											0													126.0	128.0	127.0					11																	7674313		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2495C>T	11.37:g.7674313C>T	ENSP00000299492:p.Ser832Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S832L	ENST00000299492.4	37	c.2495	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182534	0.78677	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000528883;ENST00000530181	T;T;T;T	0.32023	1.89;1.48;1.89;1.47	5.92	5.92	0.95590	.	0.101586	0.44285	D	0.000479	T	0.50786	0.1636	M	0.70275	2.135	0.46901	D	0.999241	D;D;D;D;D	0.76494	0.999;0.988;0.988;0.993;0.998	P;P;P;P;P	0.58721	0.844;0.467;0.467;0.567;0.77	T	0.33929	-0.9849	10	0.30854	T	0.27	-8.5497	17.8152	0.88630	0.0:1.0:0.0:0.0	.	720;720;674;689;832	E9PK77;B7Z433;E9PP16;E9PMU1;Q8ND30	.;.;.;.;LIPB2_HUMAN	L	832;173;674;720;689	ENSP00000299492:S832L;ENSP00000436498:S674L;ENSP00000435469:S720L;ENSP00000437321:S689L	ENSP00000299492:S832L	S	+	2	0	PPFIBP2	7630889	1.000000	0.71417	0.970000	0.41538	0.934000	0.57294	5.496000	0.66918	2.804000	0.96469	0.655000	0.94253	TCG	PPFIBP2	-	NULL	ENSG00000166387		0.473	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	139	0.00	0	C	NM_003621		7674313	7674313	+1	no_errors	ENST00000299492	ensembl	human	known	69_37n	missense	43	34.85	23	SNP	0.995	T
PPIP5K2	23262	genome.wustl.edu	37	5	102508931	102508931	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:102508931C>T	ENST00000358359.3	+	20	2868	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R787C|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R787C|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	787					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R787C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAGAAAAATTCGCTCAGACCT	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											79.0	83.0	82.0					5																	102508931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2359C>T	5.37:g.102508931C>T	ENSP00000351126:p.Arg787Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R787C	ENST00000358359.3	37	c.2359		5	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942909	0.92526	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.50786	0.1636	L	0.49778	1.585	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;P;D	0.64877	0.892;0.886;0.93	T	0.49986	-0.8880	10	0.72032	D	0.01	.	19.3591	0.94428	0.0:1.0:0.0:0.0	.	787;787;787	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	C	787;787;787;787;61	ENSP00000313070:R787C;ENSP00000351126:R787C;ENSP00000416016:R787C;ENSP00000424948:R61C	ENSP00000313070:R787C	R	+	1	0	PPIP5K2	102536830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.572000	0.86782	0.650000	0.86243	CGC	PPIP5K2	-	pfam_His_Pase_superF_clade-2	ENSG00000145725		0.353	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	207	0.00	0	C	NM_015216		102508931	102508931	+1	no_errors	ENST00000358359	ensembl	human	known	69_37n	missense	117	11.19	15	SNP	1.000	T
PPM1K	152926	genome.wustl.edu	37	4	89189480	89189480	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:89189480C>A	ENST00000608933.1	-	5	1103	c.714G>T	c.(712-714)aaG>aaT	p.K238N	PPM1K_ENST00000506423.1_5'Flank|PPM1K_ENST00000508256.1_Missense_Mutation_p.K19N|PPM1K_ENST00000295908.7_Missense_Mutation_p.K238N	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	238	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CACCACATTTCTTGATCCTGT	0.453																																						dbGAP											0													100.0	92.0	95.0					4																	89189480		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.714G>T	4.37:g.89189480C>A	ENSP00000477341:p.Lys238Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.K238N	ENST00000608933.1	37	c.714	CCDS3629.1	4	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692758	0.68271	.	.	ENSG00000163644	ENST00000295908	T	0.17213	2.29	4.94	4.94	0.65067	Protein phosphatase 2C-like (5);	0.097329	0.64402	D	0.000004	T	0.21550	0.0519	L	0.41632	1.29	0.80722	D	1	P	0.42757	0.789	P	0.44359	0.447	T	0.01027	-1.1476	10	0.72032	D	0.01	-19.3285	17.4747	0.87656	0.0:1.0:0.0:0.0	.	238	Q8N3J5	PPM1K_HUMAN	N	238	ENSP00000295908:K238N	ENSP00000295908:K238N	K	-	3	2	PPM1K	89408504	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.438000	0.44837	2.733000	0.93635	0.655000	0.94253	AAG	PPM1K	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000163644		0.453	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4	190	0.00	0	C	NM_152542		89189480	89189480	-1	no_errors	ENST00000295908	ensembl	human	known	69_37n	missense	139	14.72	24	SNP	1.000	A
PPOX	5498	genome.wustl.edu	37	1	161139450	161139450	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161139450G>A	ENST00000367999.4	+	8	1074	c.808G>A	c.(808-810)Gta>Ata	p.V270I	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Splice_Site_p.V270I|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	270					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGCTCTCAGGTATCTCTAAG	0.488																																						dbGAP											0													130.0	120.0	123.0					1																	161139450		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.808-1G>A	1.37:g.161139450G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG0|Q5VTW8	Missense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.V270I	ENST00000367999.4	37	c.808	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482062	0.26598	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.97710	-4.5;-4.5	5.85	5.85	0.93711	Amine oxidase (1);	0.061070	0.64402	D	0.000003	D	0.90096	0.6906	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.27264	0.173;0.046;0.021	B;B;B	0.40329	0.326;0.036;0.054	D	0.86117	0.1566	10	0.12430	T	0.62	0.6172	11.0611	0.47948	0.0842:0.0:0.9158:0.0	.	237;108;270	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	I	270;270;237	ENSP00000343943:V270I;ENSP00000356978:V270I	ENSP00000343943:V270I	V	+	1	0	PPOX	159406074	1.000000	0.71417	0.999000	0.59377	0.680000	0.39746	2.349000	0.44054	2.752000	0.94435	0.650000	0.86243	GTA	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.488	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	127	0.00	0	G	NM_000309	Missense_Mutation	161139450	161139450	+1	no_errors	ENST00000352210	ensembl	human	known	69_37n	missense	90	13.46	14	SNP	1.000	A
PPP1R12A	4659	genome.wustl.edu	37	12	80187672	80187672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:80187672C>A	ENST00000450142.2	-	19	2886	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	PPP1R12A_ENST00000550107.1_Nonsense_Mutation_p.E818*|PPP1R12A_ENST00000437004.2_Nonsense_Mutation_p.E874*|PPP1R12A_ENST00000261207.5_Nonsense_Mutation_p.E874*|PPP1R12A_ENST00000546369.1_Nonsense_Mutation_p.E787*	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	874					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GATCCCTCTTCTGTGTCTGAT	0.234																																						dbGAP											0													106.0	100.0	101.0					12																	80187672		1795	4062	5857	-	-	-	SO:0001587	stop_gained	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2620G>T	12.37:g.80187672C>A	ENSP00000389168:p.Glu874*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Nonsense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E874*	ENST00000450142.2	37	c.2620	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998438|4.998438	0.93227|0.93227	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107|ENST00000550299	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.314985|.	0.39020|.	N|.	0.001500|.	.|T	.|0.79793	.|0.4507	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77784	.|-0.2458	.|3	0.32370|.	T|.	0.25|.	.|.	19.8252|19.8252	0.96614|0.96614	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	874;874;874;818;815;874;874;787;818|56	.|.	ENSP00000261207:E874X|.	E|Q	-|-	1|3	0|2	PPP1R12A|PPP1R12A	78711803|78711803	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	6.611000|6.611000	0.74183|0.74183	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAA|CAG	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000058272		0.234	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	363	0.00	0	C	NM_002480		80187672	80187672	-1	no_errors	ENST00000261207	ensembl	human	known	69_37n	nonsense	186	30.60	82	SNP	1.000	A
PPP1R12B	4660	genome.wustl.edu	37	1	202396302	202396302	+	Missense_Mutation	SNP	G	G	A	rs569635559		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:202396302G>A	ENST00000608999.1	+	5	989	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.R279Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R279Q|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R279Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	279					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.R279Q(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGGATATTCGAAATAAACTG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19130	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											89.0	84.0	86.0					1																	202396302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.836G>A	1.37:g.202396302G>A	ENSP00000476755:p.Arg279Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R279Q	ENST00000608999.1	37	c.836	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288716	0.40494	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.99	4.99	0.66335	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000044	T	0.67202	0.2868	L	0.41236	1.265	0.80722	D	1	B;P;D;D	0.64830	0.041;0.922;0.986;0.994	B;P;P;P	0.56916	0.045;0.505;0.643;0.809	T	0.61402	-0.7070	10	0.13108	T	0.6	.	13.2621	0.60111	0.0:0.0:0.8412:0.1588	.	279;279;279;279	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	Q	279	ENSP00000384496:R279Q;ENSP00000337897:R279Q;ENSP00000417159:R279Q;ENSP00000349206:R279Q	ENSP00000337897:R279Q	R	+	2	0	PPP1R12B	200662925	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.203000	0.77864	2.321000	0.78463	0.467000	0.42956	CGA	PPP1R12B	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000077157		0.473	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	190	0.00	0	G	NM_032105		202396302	202396302	+1	no_errors	ENST00000336894	ensembl	human	known	69_37n	missense	140	11.39	18	SNP	0.999	A
PDE1B	5153	genome.wustl.edu	37	12	54969463	54969463	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54969463G>T	ENST00000243052.3	+	12	1703				PDE1B_ENST00000394277.3_Intron|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000550620.1_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGGGGAAAAGATGCTGCCTG	0.552																																						dbGAP											0													52.0	49.0	50.0					12																	54969463		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1267+47G>T	12.37:g.54969463G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92825|Q96KP3	RNA	SNP	-	NULL	ENST00000243052.3	37	NULL	CCDS8882.1	12																																																																																			PPP1R1A	-	-	ENSG00000135447		0.552	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406203.1	96	0.00	0	G			54969463	54969463	-1	no_errors	ENST00000547431	ensembl	human	known	69_37n	rna	86	12.24	12	SNP	0.000	T
PPP1R1A	5502	genome.wustl.edu	37	12	54978101	54978101	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54978101G>A	ENST00000257905.8	-	2	258	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.R30W	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	30					glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						CGGCGCCTCCGAATCTGAGGG	0.582																																						dbGAP											0													34.0	40.0	38.0					12																	54978101		1945	4135	6080	-	-	-	SO:0001583	missense	0			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.88C>T	12.37:g.54978101G>A	ENSP00000257905:p.Arg30Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.R30W	ENST00000257905.8	37	c.88	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961034	0.53400	.	.	ENSG00000135447	ENST00000379690;ENST00000257905	T	0.60299	0.2	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000002	T	0.56949	0.2020	M	0.76727	2.345	0.41240	D	0.986638	B	0.26258	0.145	B	0.12156	0.007	T	0.62153	-0.6914	10	0.66056	D	0.02	.	13.5133	0.61526	0.0:0.0:1.0:0.0	.	30	Q13522	PPR1A_HUMAN	W	30	ENSP00000257905:R30W	ENSP00000257905:R30W	R	-	1	2	PPP1R1A	53264368	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.788000	0.55446	2.325000	0.78763	0.561000	0.74099	CGG	PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.582	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	265	0.00	0	G	NM_006741		54978101	54978101	-1	no_errors	ENST00000257905	ensembl	human	known	69_37n	missense	186	25.40	64	SNP	1.000	A
PPP1R21	129285	genome.wustl.edu	37	2	48713898	48713898	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:48713898G>A	ENST00000294952.8	+	14	1603		c.e14+1		PPP1R21_ENST00000281394.4_Splice_Site|PPP1R21_ENST00000449090.2_Splice_Site	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						AGCAGGAAAGGTAATTCTCTT	0.353																																						dbGAP											0													92.0	91.0	91.0					2																	48713898		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1446+1G>A	2.37:g.48713898G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Splice_Site	SNP	-	e14+1	ENST00000294952.8	37	c.1446+1	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325264	0.81580	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3193	0.94231	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLRAQ1	48567402	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.056000	0.89455	2.582000	0.87167	0.650000	0.86243	.	PPP1R21	-	-	ENSG00000162869		0.353	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	111	0.00	0	G	NM_152994	Intron	48713898	48713898	+1	no_errors	ENST00000294952	ensembl	human	known	69_37n	splice_site	81	25.69	28	SNP	1.000	A
PPP1R3A	5506	genome.wustl.edu	37	7	113519370	113519370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:113519370C>A	ENST00000284601.3	-	4	1845	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	593					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACACAGCTTCTTCCCAACTT	0.468																																						dbGAP											0													124.0	119.0	121.0					7																	113519370		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1777G>T	7.37:g.113519370C>A	ENSP00000284601:p.Glu593*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E593*	ENST00000284601.3	37	c.1777	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.681591	0.97759	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.02	3.91	0.45181	.	0.448289	0.22473	N	0.059587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.4948	7.659	0.28392	0.0:0.6603:0.1356:0.2041	.	.	.	.	X	593	.	ENSP00000284601:E593X	E	-	1	0	PPP1R3A	113306606	0.000000	0.05858	0.438000	0.26821	0.970000	0.65996	-0.198000	0.09505	1.562000	0.49601	0.655000	0.94253	GAA	PPP1R3A	-	NULL	ENSG00000154415		0.468	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	258	0.00	0	C	NM_002711		113519370	113519370	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	nonsense	120	29.41	50	SNP	0.003	A
PPP1R3C	5507	genome.wustl.edu	37	10	93390585	93390585	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:93390585G>A	ENST00000238994.5	-	2	137	c.53C>T	c.(52-54)tCg>tTg	p.S18L		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGGCATGACCGAACTTGTCAA	0.483																																						dbGAP											0													63.0	64.0	63.0					10																	93390585		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.53C>T	10.37:g.93390585G>A	ENSP00000238994:p.Ser18Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.S18L	ENST00000238994.5	37	c.53	CCDS7416.1	10	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124768	0.77436	.	.	ENSG00000119938	ENST00000238994;ENST00000438999	T	0.43688	0.94	5.68	5.68	0.88126	.	0.131611	0.52532	D	0.000067	T	0.55305	0.1912	M	0.62723	1.935	0.45822	D	0.998694	D	0.67145	0.996	P	0.53006	0.715	T	0.50931	-0.8769	10	0.36615	T	0.2	-16.9847	19.7888	0.96450	0.0:0.0:1.0:0.0	.	18	Q9UQK1	PPR3C_HUMAN	L	18	ENSP00000238994:S18L	ENSP00000238994:S18L	S	-	2	0	PPP1R3C	93380565	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	7.947000	0.87758	2.662000	0.90505	0.655000	0.94253	TCG	PPP1R3C	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000119938		0.483	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	HGNC	protein_coding	OTTHUMT00000049372.1	128	0.00	0	G	NM_005398		93390585	93390585	-1	no_errors	ENST00000238994	ensembl	human	known	69_37n	missense	73	15.91	14	SNP	0.999	A
PPP1R3F	89801	genome.wustl.edu	37	X	49143236	49143236	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:49143236C>A	ENST00000055335.6	+	4	2100	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S349Y|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S366Y|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S349Y|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S349Y	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	695					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGCCAGCCTCTCCCGTCCTT	0.612																																						dbGAP											0													45.0	28.0	33.0					X																	49143236		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2084C>A	X.37:g.49143236C>A	ENSP00000055335:p.Ser695Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S695Y	ENST00000055335.6	37	c.2084	CCDS35254.1	X	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.690949	0.03303	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.57107	0.84;0.84;0.42;0.84;0.84	4.84	0.242	0.15498	.	1.297930	0.05388	N	0.538401	T	0.34629	0.0904	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20368	0.021;0.021;0.044	B;B;B	0.21917	0.037;0.037;0.027	T	0.30534	-0.9975	10	0.62326	D	0.03	3.2929	4.1767	0.10355	0.0:0.4495:0.1679:0.3826	.	366;380;695	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	Y	349;366;695;349;349	ENSP00000420687:S349Y;ENSP00000415548:S366Y;ENSP00000055335:S695Y;ENSP00000417535:S349Y;ENSP00000365359:S349Y	ENSP00000055335:S695Y	S	+	2	0	PPP1R3F	49030180	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.668000	0.05268	-0.198000	0.10333	0.513000	0.50165	TCT	PPP1R3F	-	NULL	ENSG00000049769		0.612	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	160	0.00	0	C	NM_033215		49143236	49143236	+1	no_errors	ENST00000055335	ensembl	human	known	69_37n	missense	101	12.17	14	SNP	0.000	A
PPP2R2B	5521	genome.wustl.edu	37	5	146017813	146017813	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:146017813C>A	ENST00000394413.3	-	6	1361		c.e6+1		PPP2R2B_ENST00000453001.1_Splice_Site|PPP2R2B_ENST00000394411.4_Splice_Site|PPP2R2B_ENST00000504198.1_Splice_Site|PPP2R2B_ENST00000394414.1_Splice_Site|PPP2R2B_ENST00000394409.3_Splice_Site|PPP2R2B_ENST00000356826.3_Splice_Site|PPP2R2B_ENST00000530902.1_Splice_Site|PPP2R2B_ENST00000336640.6_Splice_Site|PPP2R2B_ENST00000508545.2_Splice_Site|PPP2R2B_ENST00000394410.2_Splice_Site			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta						apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTACTCACATTTGGTGTG	0.572																																						dbGAP											0													93.0	75.0	81.0					5																	146017813		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.790+1G>T	5.37:g.146017813C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Splice_Site	SNP	-	e7+1	ENST00000394413.3	37	c.988+1	CCDS4284.1	5	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756882	0.89843	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0288	0.92946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AC011357.1	145998006	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.380000	0.79704	2.491000	0.84063	0.650000	0.86243	.	PPP2R2B	-	-	ENSG00000156475		0.572	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	129	0.00	0	C	NM_181678	Intron	146017813	146017813	-1	no_errors	ENST00000394414	ensembl	human	known	69_37n	splice_site	85	26.50	31	SNP	1.000	A
PPP2R3A	5523	genome.wustl.edu	37	3	135720848	135720848	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:135720848A>G	ENST00000264977.3	+	2	1125	c.508A>G	c.(508-510)Aac>Gac	p.N170D	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	170					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAACGATGGGAACGCCCCATC	0.433																																						dbGAP											0													75.0	81.0	79.0					3																	135720848		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.508A>G	3.37:g.135720848A>G	ENSP00000264977:p.Asn170Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.N170D	ENST00000264977.3	37	c.508	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	A	9.545	1.114297	0.20795	.	.	ENSG00000073711	ENST00000264977	T	0.08282	3.11	5.55	4.37	0.52481	.	0.287378	0.37178	N	0.002220	T	0.09949	0.0244	L	0.50333	1.59	0.80722	D	1	B	0.27559	0.181	B	0.24541	0.054	T	0.04255	-1.0965	10	0.87932	D	0	.	11.8988	0.52671	0.8541:0.1459:0.0:0.0	.	170	Q06190	P2R3A_HUMAN	D	170	ENSP00000264977:N170D	ENSP00000264977:N170D	N	+	1	0	PPP2R3A	137203538	1.000000	0.71417	0.659000	0.29680	0.090000	0.18270	6.902000	0.75699	0.893000	0.36288	0.533000	0.62120	AAC	PPP2R3A	-	NULL	ENSG00000073711		0.433	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	273	0.00	0	A	NM_002718		135720848	135720848	+1	no_errors	ENST00000264977	ensembl	human	known	69_37n	missense	179	13.88	29	SNP	0.929	G
PPP2R3B	28227	genome.wustl.edu	37	X	308342	308342	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:308342G>A	ENST00000390665.3	-	3	615	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	199					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGGCGACGAACTTGTGGA	0.721																																						dbGAP											0													48.0	58.0	55.0					X																	308342		2026	4133	6159	-	-	-	SO:0001819	synonymous_variant	0			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.597C>T	X.37:g.308342G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	pfscan_EF_HAND_2	p.F199	ENST00000390665.3	37	c.597	CCDS14104.1	X																																																																																			PPP2R3B	-	NULL	ENSG00000167393		0.721	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	73	0.00	0	G	NM_013239		308342	308342	-1	no_errors	ENST00000390665	ensembl	human	known	69_37n	silent	34	25.53	12	SNP	0.996	A
PPP2R3C	55012	genome.wustl.edu	37	14	35576562	35576562	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:35576562C>A	ENST00000261475.5	-	6	874	c.521G>T	c.(520-522)aGa>aTa	p.R174I		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	174					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GAGTCCTATTCTTGTTTGATG	0.338																																						dbGAP											0													94.0	96.0	95.0					14																	35576562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.521G>T	14.37:g.35576562C>A	ENSP00000261475:p.Arg174Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	NULL	p.R174I	ENST00000261475.5	37	c.521	CCDS9654.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.071107|5.071107	0.93950|0.93950	.|.	.|.	ENSG00000092020|ENSG00000092020	ENST00000555614|ENST00000261475;ENST00000554361	.|T;T	.|0.33654	.|1.4;1.4	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67496|0.67496	0.2899|0.2899	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.71290|0.71290	-0.4637|-0.4637	5|10	.|0.54805	.|T	.|0.06	-9.1164|-9.1164	19.5549|19.5549	0.95342|0.95342	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|174	.|Q969Q6	.|P2R3C_HUMAN	N|I	102|174;146	.|ENSP00000261475:R174I;ENSP00000450716:R146I	.|ENSP00000261475:R174I	K|R	-|-	3|2	2|0	PPP2R3C|PPP2R3C	34646313|34646313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.056000|7.056000	0.76662|0.76662	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	AAG|AGA	PPP2R3C	-	NULL	ENSG00000092020		0.338	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1	163	0.00	0	C	NM_017917		35576562	35576562	-1	no_errors	ENST00000261475	ensembl	human	known	69_37n	missense	110	24.66	36	SNP	1.000	A
PPP2R5C	5527	genome.wustl.edu	37	14	102348517	102348517	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:102348517G>A	ENST00000334743.5	+	3	362	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.R105Q|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R105Q|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R160Q|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.R105Q|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.R136Q	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	105					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACATGTTTCGAACATTACCA	0.398																																						dbGAP											0													58.0	54.0	56.0					14																	102348517		2203	4300	6503	-	-	-	SO:0001583	missense	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.314G>A	14.37:g.102348517G>A	ENSP00000333905:p.Arg105Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.R136Q	ENST00000334743.5	37	c.407	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.433722	0.96150	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.71222	-0.53;-0.55;-0.55;-0.52;-0.44	4.76	4.76	0.60689	Armadillo-type fold (1);	0.057425	0.64402	N	0.000001	D	0.90380	0.6989	H	0.98178	4.165	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;1.0;0.95;0.995;0.995;0.987	D	0.94206	0.7454	10	0.87932	D	0	-7.9618	18.1749	0.89758	0.0:0.0:1.0:0.0	.	105;136;3;105;105;105;160	B4DI74;F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;.;2A5G_HUMAN;.;.	Q	136;160;134;105;3;105;105;105;105	ENSP00000412324:R136Q;ENSP00000329009:R160Q;ENSP00000450931:R134Q;ENSP00000262239:R105Q;ENSP00000333905:R105Q	ENSP00000329009:R160Q	R	+	2	0	PPP2R5C	101418270	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.781000	0.99029	2.363000	0.80096	0.650000	0.86243	CGA	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000078304		0.398	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	154	0.00	0	G	NM_002719		102348517	102348517	+1	no_errors	ENST00000422945	ensembl	human	known	69_37n	missense	73	26.26	26	SNP	1.000	A
PPP3CA	5530	genome.wustl.edu	37	4	101947178	101947178	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:101947178G>A	ENST00000394854.3	-	14	2093	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PPP3CA_ENST00000523694.2_Silent_p.F403F|PPP3CA_ENST00000507176.1_Silent_p.F372F|PPP3CA_ENST00000323055.6_Silent_p.F418F|PPP3CA_ENST00000394853.4_Silent_p.F460F|PPP3CA_ENST00000512215.1_Silent_p.F238F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	470	Inhibitory domain.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCTTCCTCGAAGCTAGTGA	0.438																																						dbGAP											0													147.0	142.0	144.0					4																	101947178		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1410C>T	4.37:g.101947178G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.F470	ENST00000394854.3	37	c.1410	CCDS34037.1	4																																																																																			PPP3CA	-	NULL	ENSG00000138814		0.438	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	420	0.00	0	G	NM_000944		101947178	101947178	-1	no_errors	ENST00000394854	ensembl	human	known	69_37n	silent	253	15.95	48	SNP	1.000	A
PPP3CA	5530	genome.wustl.edu	37	4	102019578	102019578	+	Silent	SNP	C	C	G	rs142339019		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:102019578C>G	ENST00000394854.3	-	5	1271	c.588G>C	c.(586-588)ctG>ctC	p.L196L	PPP3CA_ENST00000510292.1_5'UTR|PPP3CA_ENST00000523694.2_Silent_p.L129L|PPP3CA_ENST00000507176.1_Silent_p.L98L|PPP3CA_ENST00000323055.6_Silent_p.L196L|PPP3CA_ENST00000394853.4_Silent_p.L196L|PPP3CA_ENST00000512215.1_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	196	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CATGCACACACAGGAACTGTT	0.398																																						dbGAP											0													148.0	137.0	141.0					4																	102019578		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.588G>C	4.37:g.102019578C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L196	ENST00000394854.3	37	c.588	CCDS34037.1	4																																																																																			PPP3CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000138814		0.398	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	342	0.00	0	C	NM_000944		102019578	102019578	-1	no_errors	ENST00000394854	ensembl	human	known	69_37n	silent	201	16.80	41	SNP	1.000	G
GRIN3A	116443	genome.wustl.edu	37	9	104357018	104357018	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:104357018G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.F65F	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CGTCGGTGTCGAAGACGTCGA	0.577																																						dbGAP											0													82.0	79.0	80.0					9																	104357018		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15376C>T	9.37:g.104357018G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,prints_Parvalbumin,pfscan_EF_HAND_2	p.F65	ENST00000361820.3	37	c.195	CCDS6758.1	9																																																																																			PPP3R2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	ENSG00000188386		0.577	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	66	0.00	0	G			104357018	104357018	-1	no_errors	ENST00000374806	ensembl	human	known	69_37n	silent	42	14.29	7	SNP	1.000	A
PPP4R4	57718	genome.wustl.edu	37	14	94711930	94711930	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:94711930G>T	ENST00000304338.3	+	13	1505	c.1351G>T	c.(1351-1353)Gat>Tat	p.D451Y		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	451					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAAGGTACTAGATGCTCTTAT	0.308																																						dbGAP											0													87.0	89.0	88.0					14																	94711930		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1351G>T	14.37:g.94711930G>T	ENSP00000305924:p.Asp451Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D451Y	ENST00000304338.3	37	c.1351	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317978	0.81469	.	.	ENSG00000119698	ENST00000304338	T	0.31769	1.48	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	M	0.63428	1.95	0.80722	D	1	D	0.64830	0.994	P	0.58820	0.846	T	0.49331	-0.8951	10	0.66056	D	0.02	-20.471	20.1861	0.98216	0.0:0.0:1.0:0.0	.	451	Q6NUP7	PP4R4_HUMAN	Y	451	ENSP00000305924:D451Y	ENSP00000305924:D451Y	D	+	1	0	PPP4R4	93781683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.167000	0.89668	2.776000	0.95493	0.650000	0.86243	GAT	PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	142	0.00	0	G	NM_058237		94711930	94711930	+1	no_errors	ENST00000304338	ensembl	human	known	69_37n	missense	154	11.49	20	SNP	1.000	T
PPP4R4	57718	genome.wustl.edu	37	14	94718121	94718121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:94718121C>T	ENST00000304338.3	+	16	1907	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	585					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GAATAGACTTCGATTTTTGGA	0.279																																						dbGAP											0													56.0	62.0	60.0					14																	94718121		2200	4291	6491	-	-	-	SO:0001587	stop_gained	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1753C>T	14.37:g.94718121C>T	ENSP00000305924:p.Arg585*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R585*	ENST00000304338.3	37	c.1753	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.577834	0.98368	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.72	4.82	0.62117	.	0.054481	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-11.4773	16.0745	0.80960	0.1353:0.8647:0.0:0.0	.	.	.	.	X	585	.	ENSP00000305924:R585X	R	+	1	2	PPP4R4	93787874	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.134000	0.57990	1.399000	0.46721	-0.521000	0.04368	CGA	PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.279	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	199	0.50	1	C	NM_058237		94718121	94718121	+1	no_errors	ENST00000304338	ensembl	human	known	69_37n	nonsense	118	19.73	29	SNP	1.000	T
PPP4R4	57718	genome.wustl.edu	37	14	94733344	94733344	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:94733344G>T	ENST00000304338.3	+	23	2581	c.2427G>T	c.(2425-2427)aaG>aaT	p.K809N		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	809					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GGTTAGGAAAGACTTCTGTGC	0.294																																						dbGAP											0													83.0	82.0	82.0					14																	94733344		2202	4295	6497	-	-	-	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2427G>T	14.37:g.94733344G>T	ENSP00000305924:p.Lys809Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K809N	ENST00000304338.3	37	c.2427	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041232	0.35989	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.83	4.93	0.64822	.	0.338661	0.31031	N	0.008384	T	0.48484	0.1502	L	0.29908	0.895	0.80722	D	1	P	0.44478	0.836	P	0.46758	0.526	T	0.51888	-0.8648	9	0.62326	D	0.03	-3.7922	13.1499	0.59484	0.0741:0.0:0.9259:0.0	.	809	Q6NUP7	PP4R4_HUMAN	N	809	.	ENSP00000305924:K809N	K	+	3	2	PPP4R4	93803097	1.000000	0.71417	0.933000	0.37362	0.436000	0.31835	3.296000	0.51802	1.463000	0.47967	0.467000	0.42956	AAG	PPP4R4	-	NULL	ENSG00000119698		0.294	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	235	0.00	0	G	NM_058237		94733344	94733344	+1	no_errors	ENST00000304338	ensembl	human	known	69_37n	missense	194	11.01	24	SNP	0.992	T
PPP5C	5536	genome.wustl.edu	37	19	46890675	46890675	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:46890675G>A	ENST00000012443.4	+	9	1203	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP5C_ENST00000391919.1_Missense_Mutation_p.R239Q	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	367	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GATGACATCCGGAAAATTGAG	0.622																																						dbGAP											0													77.0	62.0	67.0					19																	46890675		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1100G>A	19.37:g.46890675G>A	ENSP00000012443:p.Arg367Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16722|Q53XV2	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.R367Q	ENST00000012443.4	37	c.1100	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238074	0.79800	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.06371	3.31;3.31	4.86	4.86	0.63082	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.79614	2.46	0.80722	D	1	P;D;P	0.76494	0.843;0.999;0.86	B;P;B	0.55749	0.135;0.783;0.077	T	0.00958	-1.1500	10	0.44086	T	0.13	-22.7385	15.512	0.75789	0.0:0.0:1.0:0.0	.	225;367;367	B7Z1I1;B2R6R6;P53041	.;.;PPP5_HUMAN	Q	367;354;239	ENSP00000012443:R367Q;ENSP00000375786:R239Q	ENSP00000012443:R367Q	R	+	2	0	PPP5C	51582515	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	9.480000	0.97931	2.240000	0.73641	0.655000	0.94253	CGG	PPP5C	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000011485		0.622	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2	84	0.00	0	G	NM_006247		46890675	46890675	+1	no_errors	ENST00000012443	ensembl	human	known	69_37n	missense	58	27.38	23	SNP	1.000	A
PPP6C	5537	genome.wustl.edu	37	9	127915943	127915943	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:127915943C>T	ENST00000373547.4	-	6	637	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	PPP6C_ENST00000451402.1_Missense_Mutation_p.E217K|PPP6C_ENST00000415905.1_Missense_Mutation_p.E158K|PPP6C_ENST00000373546.3_Missense_Mutation_p.E33K	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	180					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E180K(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TGATTCCGTTCGATGGTTCGA	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											89.0	79.0	82.0					9																	127915943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.538G>A	9.37:g.127915943C>T	ENSP00000362648:p.Glu180Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.E217K	ENST00000373547.4	37	c.649	CCDS6861.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315143	0.81358	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	N	0.20610	0.595	0.80722	D	1	B;B;B	0.20550	0.006;0.046;0.015	B;B;B	0.20767	0.008;0.031;0.021	T	0.11690	-1.0577	10	0.72032	D	0.01	-19.3737	18.9632	0.92684	0.0:1.0:0.0:0.0	.	158;217;180	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	K	180;217;158;33	ENSP00000362648:E180K;ENSP00000392147:E217K;ENSP00000411744:E158K;ENSP00000362647:E33K	ENSP00000362647:E33K	E	-	1	0	PPP6C	126955764	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.445000	0.80570	2.724000	0.93272	0.585000	0.79938	GAA	PPP6C	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000119414		0.423	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6C	HGNC	protein_coding	OTTHUMT00000054060.1	159	0.00	0	C	NM_016294		127915943	127915943	-1	no_errors	ENST00000451402	ensembl	human	known	69_37n	missense	132	16.46	26	SNP	1.000	T
PPP6R3	55291	genome.wustl.edu	37	11	68305214	68305214	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:68305214A>G	ENST00000393800.2	+	3	336	c.82A>G	c.(82-84)Atg>Gtg	p.M28V	PPP6R3_ENST00000265637.4_Missense_Mutation_p.M28V|PPP6R3_ENST00000527403.2_Missense_Mutation_p.M28V|PPP6R3_ENST00000265636.5_Missense_Mutation_p.M28V|PPP6R3_ENST00000524904.1_Missense_Mutation_p.M28V|PPP6R3_ENST00000524845.1_Missense_Mutation_p.M28V|PPP6R3_ENST00000393799.2_Missense_Mutation_p.M28V|PPP6R3_ENST00000529710.1_Missense_Mutation_p.M28V|PPP6R3_ENST00000393801.3_Missense_Mutation_p.M28V|PPP6R3_ENST00000534534.1_Intron	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	28					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAAGGAGTTAATGGATGAGGA	0.363																																						dbGAP											0													100.0	92.0	94.0					11																	68305214		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.82A>G	11.37:g.68305214A>G	ENSP00000377389:p.Met28Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.M28V	ENST00000393800.2	37	c.82	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	A	15.89	2.967397	0.53507	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000533127;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.89	3.73	0.42828	.	0.075866	0.85682	D	0.000000	T	0.66567	0.2802	M	0.87758	2.905	0.58432	D	0.999998	D;D;D;P;P;P	0.54772	0.968;0.968;0.968;0.946;0.923;0.925	P;P;P;P;P;P	0.58331	0.837;0.804;0.804;0.54;0.735;0.661	T	0.70799	-0.4774	9	.	.	.	.	11.7237	0.51698	0.8522:0.1478:0.0:0.0	.	28;28;28;28;28;28	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	V	28	ENSP00000377388:M28V;ENSP00000377389:M28V;ENSP00000433768:M28V;ENSP00000433551:M28V;ENSP00000431415:M28V;ENSP00000265637:M28V;ENSP00000433058:M28V;ENSP00000377390:M28V;ENSP00000265636:M28V;ENSP00000437329:M28V;ENSP00000433565:M28V;ENSP00000432837:M28V	.	M	+	1	0	PPP6R3	68061790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.010000	0.76353	0.855000	0.35359	0.455000	0.32223	ATG	PPP6R3	-	NULL	ENSG00000110075		0.363	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	100	0.00	0	A	NM_018312		68305214	68305214	+1	no_errors	ENST00000393799	ensembl	human	known	69_37n	missense	99	26.67	36	SNP	1.000	G
PPT2	9374	genome.wustl.edu	37	6	32123519	32123519	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:32123519C>A	ENST00000324816.6	+	4	960	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	PPT2_ENST00000437001.2_Missense_Mutation_p.S8Y|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.S131Y|PPT2_ENST00000375143.2_Missense_Mutation_p.S131Y|PPT2_ENST00000445576.2_Missense_Mutation_p.S131Y|PPT2_ENST00000493548.1_Intron|PPT2_ENST00000395523.1_Missense_Mutation_p.S131Y|PPT2_ENST00000361568.2_Missense_Mutation_p.S137Y|PPT2_ENST00000375137.2_Missense_Mutation_p.S131Y|PRRT1_ENST00000375150.2_5'Flank|PPT2-EGFL8_ENST00000453656.2_3'UTR			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	131					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AACGTGGATTCTTTCATCTCC	0.522																																						dbGAP											0													197.0	164.0	176.0					6																	32123519		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.392C>A	6.37:g.32123519C>A	ENSP00000320528:p.Ser131Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.S137Y	ENST00000324816.6	37	c.410	CCDS4742.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.520216|4.520216	0.85495|0.85495	.|.	.|.	ENSG00000221988|ENSG00000221988	ENST00000453656|ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000436118	.|T;D;D;D;D;D;D;D	.|0.95137	.|-0.44;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	5.47|5.47	4.6|4.6	0.57074|0.57074	.|.	.|0.436430	.|0.26605	.|N	.|0.023451	D|D	0.96390|0.96390	0.8822|0.8822	M|M	0.85462|0.85462	2.755|2.755	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.995;0.995	.|D;D;D	.|0.67725	.|0.953;0.941;0.935	D|D	0.96817|0.96817	0.9601|0.9601	6|10	0.30078|0.87932	T|D	0.28|0	-0.0065|-0.0065	12.2548|12.2548	0.54617|0.54617	0.0:0.9168:0.0:0.0832|0.0:0.9168:0.0:0.0832	.|.	.|131;131;137	.|Q9UMR5-2;Q9UMR5;B0S872	.|.;PPT2_HUMAN;.	I|Y	80|131;137;131;131;131;8;131;131;131	.|ENSP00000398847:S131Y;ENSP00000354608:S137Y;ENSP00000378894:S131Y;ENSP00000412381:S131Y;ENSP00000320528:S131Y;ENSP00000415350:S8Y;ENSP00000364279:S131Y;ENSP00000364285:S131Y	ENSP00000412232:L80I|ENSP00000320528:S131Y	L|S	+|+	1|2	0|0	PPT2|PPT2	32231497|32231497	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	6.787000|6.787000	0.75099|0.75099	1.316000|1.316000	0.45131|0.45131	0.549000|0.549000	0.68633|0.68633	CTT|TCT	PPT2	-	pfam_Palm_thioest	ENSG00000221988		0.522	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT2	HGNC	protein_coding	OTTHUMT00000076552.4	462	0.22	1	C	NM_138717		32123519	32123519	+1	no_errors	ENST00000361568	ensembl	human	known	69_37n	missense	254	23.65	79	SNP	1.000	A
PPTC7	160760	genome.wustl.edu	37	12	110983772	110983772	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:110983772C>T	ENST00000354300.3	-	3	803	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	172	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						CTCATCTGATCGGTGCACGAC	0.567																																						dbGAP											0													144.0	118.0	127.0					12																	110983772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.515G>A	12.37:g.110983772C>T	ENSP00000346255:p.Arg172Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC5|Q68DZ7|Q6UY82	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R172Q	ENST00000354300.3	37	c.515	CCDS9149.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.287395	0.95517	.	.	ENSG00000196850	ENST00000354300	.	.	.	6.07	6.07	0.98685	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.40543	1.245	0.80722	D	1	D	0.59767	0.986	P	0.46940	0.532	T	0.58763	-0.7579	9	0.51188	T	0.08	-9.601	20.6593	0.99626	0.0:1.0:0.0:0.0	.	172	Q8NI37	PPTC7_HUMAN	Q	172	.	ENSP00000346255:R172Q	R	-	2	0	PPTC7	109468155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.810000	0.86072	2.885000	0.99019	0.655000	0.94253	CGA	PPTC7	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000196850		0.567	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPTC7	HGNC	protein_coding	OTTHUMT00000404635.1	198	0.00	0	C	NM_139283		110983772	110983772	-1	no_errors	ENST00000354300	ensembl	human	known	69_37n	missense	120	23.08	36	SNP	1.000	T
PPY	5539	genome.wustl.edu	37	17	42018888	42018888	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:42018888C>A	ENST00000591228.1	-	2	222	c.135G>T	c.(133-135)caG>caT	p.Q45H	PPY_ENST00000587006.1_Missense_Mutation_p.Q45H|PPY_ENST00000225992.3_Missense_Mutation_p.Q45H			P01298	PAHO_HUMAN	pancreatic polypeptide	45					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACTGGGCCATCTGCTCTGGTG	0.607																																						dbGAP											0													159.0	146.0	150.0					17																	42018888		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"""Endogenous ligands"""	9327	protein-coding gene	gene with protein product	"""pancreatic polypeptide Y"", ""prepro-PP (prepropancreatic polypeptide)"""	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.135G>T	17.37:g.42018888C>A	ENSP00000466009:p.Gln45His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.Q45H	ENST00000591228.1	37	c.135	CCDS11472.1	17	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723824	0.68959	.	.	ENSG00000108849	ENST00000225992	T	0.50548	0.74	4.48	4.48	0.54585	.	0.155329	0.44097	D	0.000488	T	0.67692	0.2920	.	.	.	0.38961	D	0.958557	D	0.89917	1.0	D	0.87578	0.998	T	0.73360	-0.4007	9	0.72032	D	0.01	-26.0478	12.8193	0.57683	0.0:1.0:0.0:0.0	.	45	P01298	PAHO_HUMAN	H	45	ENSP00000225992:Q45H	ENSP00000225992:Q45H	Q	-	3	2	PPY	39374414	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.800000	0.27042	2.488000	0.83962	0.561000	0.74099	CAG	PPY	-	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	ENSG00000108849		0.607	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPY	HGNC	protein_coding	OTTHUMT00000457656.1	127	0.00	0	C	NM_002722		42018888	42018888	-1	no_errors	ENST00000225992	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	1.000	A
NPY4R	5540	genome.wustl.edu	37	10	47086824	47086824	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:47086824C>T	ENST00000395716.1	+	2	126	c.41C>T	c.(40-42)tCt>tTt	p.S14F	NPY4R_ENST00000374312.1_Missense_Mutation_p.S14F			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	14					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CTCCCAAAATCTCCACAAGGT	0.498																																						dbGAP											0													118.0	111.0	113.0					10																	47086824		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.41C>T	10.37:g.47086824C>T	ENSP00000379066:p.Ser14Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_NPY4_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.S14F	ENST00000395716.1	37	c.41	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.146048	0.00328	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.37915	1.17;1.17	4.78	0.675	0.17952	.	7.987320	0.00777	U	0.001254	T	0.20495	0.0493	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11012	-1.0605	10	0.10111	T	0.7	.	3.4062	0.07341	0.1829:0.5321:0.0:0.285	.	14	P50391	NPY4R_HUMAN	F	14	ENSP00000363431:S14F;ENSP00000379066:S14F	ENSP00000363431:S14F	S	+	2	0	PPYR1	46506830	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.124000	0.15728	0.259000	0.21709	0.655000	0.94253	TCT	PPYR1	-	prints_NPY4_rcpt	ENSG00000204174		0.498	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	414	0.00	0	C			47086824	47086824	+1	no_errors	ENST00000374312	ensembl	human	known	69_37n	missense	245	10.58	29	SNP	0.000	T
PQBP1	10084	genome.wustl.edu	37	X	48760318	48760318	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48760318T>C	ENST00000376563.1	+	7	955	c.755T>C	c.(754-756)cTc>cCc	p.L252P	PQBP1_ENST00000247140.4_Missense_Mutation_p.L157P|PQBP1_ENST00000447146.2_Missense_Mutation_p.L252P|PQBP1_ENST00000376566.4_Missense_Mutation_p.L157P|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000218224.4_Missense_Mutation_p.L252P|PQBP1_ENST00000396763.1_Missense_Mutation_p.L252P	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	252	Important for interaction with TXNL4A.|Intrinsically disordered.				alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						GGGGCTGTGCTCCGGGCCAAT	0.617																																						dbGAP											0													18.0	19.0	19.0					X																	48760318		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.755T>C	X.37:g.48760318T>C	ENSP00000365747:p.Leu252Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.L252P	ENST00000376563.1	37	c.755	CCDS14309.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288384|4.288384	0.80803|0.80803	.|.	.|.	ENSG00000102103|ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000247140;ENST00000218224;ENST00000396763|ENST00000456306	D;D;D;D;D;D|.	0.89875|.	-2.58;-2.22;-2.58;-2.22;-2.58;-2.58|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.72252|0.72252	0.3437|0.3437	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	1.0;0.997;1.0;0.997|.	T|T	0.73357|0.73357	-0.4008|-0.4008	10|5	0.87932|.	D|.	0|.	-15.2523|-15.2523	11.7849|11.7849	0.52037|0.52037	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	152;251;157;252|.	O60828-5;O60828-2;O60828-4;O60828|.	.;.;.;PQBP1_HUMAN|.	P|P	252;157;252;157;252;252|146	ENSP00000365747:L252P;ENSP00000365750:L157P;ENSP00000391759:L252P;ENSP00000247140:L157P;ENSP00000218224:L252P;ENSP00000379985:L252P|.	ENSP00000218224:L252P|.	L|S	+|+	2|1	0|0	PQBP1|PQBP1	48645262|48645262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	7.052000|7.052000	0.76634|0.76634	1.983000|1.983000	0.57843|0.57843	0.486000|0.486000	0.48141|0.48141	CTC|TCC	PQBP1	-	NULL	ENSG00000102103		0.617	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	51	0.00	0	T	NM_001032381.1		48760318	48760318	+1	no_errors	ENST00000218224	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	C
PQLC2	54896	genome.wustl.edu	37	1	19653755	19653755	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19653755C>A	ENST00000375153.3	+	7	1293	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	PQLC2_ENST00000400548.2_Missense_Mutation_p.S153Y|PQLC2_ENST00000375155.3_Missense_Mutation_p.S218Y	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	218	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCTACTCTCTGTTCGCG	0.602																																						dbGAP											0													75.0	72.0	73.0					1																	19653755		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.653C>A	1.37:g.19653755C>A	ENSP00000364295:p.Ser218Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,smart_CTNS	p.S218Y	ENST00000375153.3	37	c.653	CCDS195.2	1	.	.	.	.	.	.	.	.	.	.	C	9.885	1.202699	0.22121	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	D;D;D	0.98192	-4.78;-4.78;-4.78	5.16	4.25	0.50352	.	0.325326	0.33792	N	0.004559	D	0.94568	0.8250	N	0.25647	0.755	0.35924	D	0.832029	B	0.21753	0.06	B	0.25759	0.063	D	0.92680	0.6157	10	0.19590	T	0.45	-16.6387	9.6804	0.40067	0.0:0.8292:0.0:0.1708	.	218	Q6ZP29	PQLC2_HUMAN	Y	218;218;153	ENSP00000364297:S218Y;ENSP00000364295:S218Y;ENSP00000383395:S153Y	ENSP00000364295:S218Y	S	+	2	0	PQLC2	19526342	0.683000	0.27633	0.984000	0.44739	0.394000	0.30568	1.234000	0.32660	1.179000	0.42884	0.484000	0.47621	TCT	PQLC2	-	smart_CTNS	ENSG00000040487		0.602	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PQLC2	HGNC	protein_coding	OTTHUMT00000007255.1	47	0.00	0	C	NM_017765		19653755	19653755	+1	no_errors	ENST00000375153	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	0.972	A
PRB1	5542	genome.wustl.edu	37	12	11507489	11507489	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:11507489C>A	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Splice_Site	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438																																						dbGAP											1	Unknown(1)	large_intestine(1)											186.0	175.0	179.0					12																	11507489		2179	4277	6456	-	-	-	SO:0001630	splice_region_variant	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.65-1G>T	12.37:g.11507489C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Splice_Site	SNP	-	e2-1	ENST00000500254.2	37	c.65-1	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	C	3.706	-0.060587	0.07317	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.22127	N	0.999342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9445	0.24510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRB1	11398756	0.346000	0.24844	0.098000	0.21074	0.006000	0.05464	1.273000	0.33121	1.265000	0.44215	0.558000	0.71614	.	PRB1	-	-	ENSG00000251655		0.438	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	800	0.00	0	C	NM_005039	Intron	11507489	11507489	-1	no_errors	ENST00000500254	ensembl	human	known	69_37n	splice_site	754	10.98	93	SNP	0.155	A
PRCC	5546	genome.wustl.edu	37	1	156756495	156756495	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156756495C>T	ENST00000271526.4	+	3	884	c.612C>T	c.(610-612)ttC>ttT	p.F204F	PRCC_ENST00000353233.3_Silent_p.F204F|PRCC_ENST00000491853.1_3'UTR	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	204					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCATGCCTTCTCCCGCAAAC	0.552			T	TFE3	papillary renal																																	dbGAP		Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	0													112.0	112.0	112.0					1																	156756495		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.612C>T	1.37:g.156756495C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1F7|O00665|O00724|Q5SZ06	Silent	SNP	pfam_PRCC_C	p.F204	ENST00000271526.4	37	c.612	CCDS1157.1	1																																																																																			PRCC	-	NULL	ENSG00000143294		0.552	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCC	HGNC	protein_coding	OTTHUMT00000098941.2	358	0.00	0	C	NM_005973		156756495	156756495	+1	no_errors	ENST00000271526	ensembl	human	known	69_37n	silent	216	25.00	72	SNP	1.000	T
PRDM13	59336	genome.wustl.edu	37	6	100057144	100057144	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:100057144G>A	ENST00000369215.4	+	3	663	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	120					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TCAGTGGTTCGACATCCCCAC	0.557																																						dbGAP											0													72.0	78.0	76.0					6																	100057144		2151	4264	6415	-	-	-	SO:0001583	missense	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.358G>A	6.37:g.100057144G>A	ENSP00000358217:p.Asp120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D130N	ENST00000369215.4	37	c.388	CCDS43487.1	6	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817173	0.90790	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.85339	-1.97;-1.97	5.65	5.65	0.86999	.	0.000000	0.41500	D	0.000865	D	0.86711	0.5998	L	0.27053	0.805	0.52501	D	0.999952	D	0.89917	1.0	D	0.83275	0.996	D	0.88383	0.3003	10	0.72032	D	0.01	-29.4995	19.3826	0.94543	0.0:0.0:1.0:0.0	.	120	Q9H4Q3	PRD13_HUMAN	N	120;130	ENSP00000358217:D120N;ENSP00000358216:D130N	ENSP00000358216:D130N	D	+	1	0	PRDM13	100163865	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.466000	0.80914	2.689000	0.91719	0.558000	0.71614	GAC	PRDM13	-	NULL	ENSG00000112238		0.557	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	115	0.00	0	G			100057144	100057144	+1	no_errors	ENST00000369214	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	1.000	A
PRDM14	63978	genome.wustl.edu	37	8	70981430	70981430	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:70981430C>T	ENST00000276594.2	-	2	867	c.666G>A	c.(664-666)gcG>gcA	p.A222A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	222					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGCCTGAAATCGCATGGTGCA	0.612																																					NSCLC(129;99 1813 5906 40656 46114)	dbGAP											0													77.0	81.0	80.0					8																	70981430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.666G>A	8.37:g.70981430C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UX9	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A222	ENST00000276594.2	37	c.666	CCDS6206.1	8																																																																																			PRDM14	-	NULL	ENSG00000147596		0.612	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	34	0.00	0	C			70981430	70981430	-1	no_errors	ENST00000276594	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	0.610	T
PRDM4	11108	genome.wustl.edu	37	12	108145350	108145350	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:108145350C>T	ENST00000228437.5	-	5	1427	c.968G>A	c.(967-969)aGc>aAc	p.S323N	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	323					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AGGTTCTAGGCTGAGGCCAAC	0.507																																						dbGAP											0													122.0	104.0	110.0					12																	108145350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.968G>A	12.37:g.108145350C>T	ENSP00000228437:p.Ser323Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.S323N	ENST00000228437.5	37	c.968	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702101	0.68501	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.66815	2.76;-0.23	5.77	5.77	0.91146	.	0.086754	0.85682	D	0.000000	T	0.57460	0.2055	N	0.19112	0.55	0.53005	D	0.999962	B	0.26635	0.155	B	0.26614	0.071	T	0.55927	-0.8063	10	0.66056	D	0.02	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	323	Q9UKN5	PRDM4_HUMAN	N	323;68	ENSP00000228437:S323N;ENSP00000449295:S68N	ENSP00000228437:S323N	S	-	2	0	PRDM4	106669480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.385000	0.66231	2.885000	0.99019	0.655000	0.94253	AGC	PRDM4	-	pirsf_Znf_PRDM4	ENSG00000110851		0.507	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1	98	0.00	0	C	NM_012406		108145350	108145350	-1	no_errors	ENST00000228437	ensembl	human	known	69_37n	missense	95	31.65	44	SNP	1.000	T
PRDX3	10935	genome.wustl.edu	37	10	120928802	120928802	+	Missense_Mutation	SNP	C	C	T	rs548327727		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:120928802C>T	ENST00000298510.2	-	6	646	c.604G>A	c.(604-606)Gat>Aat	p.D202N	PRDX3_ENST00000356951.3_Missense_Mutation_p.D184N|PRDX3_ENST00000494433.1_5'UTR	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	202	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ACTGGGAGATCGTTGACGCTC	0.502																																					Pancreas(36;562 1096 2447 42526)	dbGAP											0													104.0	85.0	91.0					10																	120928802		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"""antioxidant protein 1"""	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.604G>A	10.37:g.120928802C>T	ENSP00000298510:p.Asp202Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.D202N	ENST00000298510.2	37	c.604	CCDS7611.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975554	0.74360	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.15372	2.43;2.43	5.19	5.19	0.71726	Thioredoxin-like fold (3);	0.039872	0.85682	D	0.000000	T	0.36853	0.0982	L	0.42008	1.315	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.08411	-1.0723	10	0.87932	D	0	-29.2854	19.1127	0.93323	0.0:1.0:0.0:0.0	.	202	P30048	PRDX3_HUMAN	N	184;202	ENSP00000349432:D184N;ENSP00000298510:D202N	ENSP00000298510:D202N	D	-	1	0	PRDX3	120918792	1.000000	0.71417	0.997000	0.53966	0.408000	0.30992	6.032000	0.70918	2.583000	0.87209	0.561000	0.74099	GAT	PRDX3	-	pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000165672		0.502	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX3	HGNC	protein_coding	OTTHUMT00000050639.1	130	0.00	0	C	NM_006793		120928802	120928802	-1	no_errors	ENST00000298510	ensembl	human	known	69_37n	missense	132	10.14	15	SNP	1.000	T
PREB	10113	genome.wustl.edu	37	2	27356140	27356140	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27356140C>T	ENST00000260643.2	-	3	644	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	PREB_ENST00000406567.3_Missense_Mutation_p.E131K|PREB_ENST00000416802.1_5'UTR	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	131					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGGGTTTCCGCTCCACAT	0.547																																						dbGAP											0													259.0	274.0	269.0					2																	27356140		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.391G>A	2.37:g.27356140C>T	ENSP00000260643:p.Glu131Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E131K	ENST00000260643.2	37	c.391	CCDS1738.1	2	.	.	.	.	.	.	.	.	.	.	C	2.395	-0.338864	0.05243	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.79749	-1.29;-1.3	5.54	2.4	0.29515	.	0.803015	0.11793	N	0.528972	T	0.62708	0.2450	N	0.19112	0.55	0.09310	N	1	B;B	0.17038	0.004;0.02	B;B	0.16722	0.002;0.016	T	0.45249	-0.9274	10	0.09338	T	0.73	-3.2051	6.9522	0.24552	0.1354:0.6658:0.1193:0.0795	.	131;131	B5MC98;Q9HCU5	.;PREB_HUMAN	K	131	ENSP00000260643:E131K;ENSP00000384032:E131K	ENSP00000260643:E131K	E	-	1	0	PREB	27209644	0.011000	0.17503	0.658000	0.29665	0.128000	0.20619	1.686000	0.37669	0.689000	0.31550	0.561000	0.74099	GAA	PREB	-	NULL	ENSG00000138073		0.547	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	175	0.00	0	C	NM_013388		27356140	27356140	-1	no_errors	ENST00000260643	ensembl	human	known	69_37n	missense	77	24.51	25	SNP	0.166	T
PREX2	80243	genome.wustl.edu	37	8	68972971	68972971	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:68972971G>T	ENST00000288368.4	+	11	1573	c.1296G>T	c.(1294-1296)gtG>gtT	p.V432V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGGAAGGCGTGCACTTGGGAC	0.348																																						dbGAP											0													112.0	114.0	113.0					8																	68972971		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1296G>T	8.37:g.68972971G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V432	ENST00000288368.4	37	c.1296	CCDS6201.1	8																																																																																			PREX2	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000046889		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	322	0.00	0	G	NM_025170		68972971	68972971	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	silent	206	14.52	35	SNP	0.979	T
PREX2	80243	genome.wustl.edu	37	8	69017565	69017565	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:69017565G>T	ENST00000288368.4	+	24	2992				PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCTTCTCAAGAAATGCTCTT	0.517																																						dbGAP											0													78.0	66.0	70.0					8																	69017565		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2716-2779G>T	8.37:g.69017565G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	RNA	SNP	-	NULL	ENST00000288368.4	37	NULL	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	4.332	0.061086	0.08339	.	.	ENSG00000046889	ENST00000354677	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.20703	N	0.999865	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.6911	0.28569	0.0:0.0:1.0:0.0	.	.	.	.	X	970	.	ENSP00000346707:E970X	E	+	1	0	PREX2	69180119	0.158000	0.22850	0.007000	0.13788	0.019000	0.09904	0.993000	0.29680	1.470000	0.48102	0.460000	0.39030	GAA	PREX2	-	-	ENSG00000046889		0.517	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	86	0.00	0	G	NM_025170		69017565	69017565	+1	no_errors	ENST00000529398	ensembl	human	known	69_37n	rna	79	23.30	24	SNP	0.009	T
PREX2	80243	genome.wustl.edu	37	8	69028131	69028131	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:69028131C>A	ENST00000288368.4	+	26	3567	c.3290C>A	c.(3289-3291)tCt>tAt	p.S1097Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1097					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGGAAGATTCTGGTCATGAC	0.393																																						dbGAP											0													174.0	166.0	169.0					8																	69028131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3290C>A	8.37:g.69028131C>A	ENSP00000288368:p.Ser1097Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1097Y	ENST00000288368.4	37	c.3290	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865928	0.91511	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.44482	0.92	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64643	-0.6359	10	0.87932	D	0	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	1097	Q70Z35	PREX2_HUMAN	Y	1097;1100	ENSP00000288368:S1097Y	ENSP00000288368:S1097Y	S	+	2	0	PREX2	69190685	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.376000	0.79658	2.937000	0.99478	0.650000	0.86243	TCT	PREX2	-	NULL	ENSG00000046889		0.393	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	500	0.00	0	C	NM_025170		69028131	69028131	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	333	31.06	150	SNP	1.000	A
PREX2	80243	genome.wustl.edu	37	8	69136818	69136818	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:69136818A>G	ENST00000288368.4	+	39	5009	c.4732A>G	c.(4732-4734)Aag>Gag	p.K1578E	Y_RNA_ENST00000516401.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1578					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAACACAGCGAAGAATTTGGG	0.458																																						dbGAP											0													103.0	96.0	99.0					8																	69136818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4732A>G	8.37:g.69136818A>G	ENSP00000288368:p.Lys1578Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K1578E	ENST00000288368.4	37	c.4732	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	29.9	5.048566	0.93740	.	.	ENSG00000046889	ENST00000288368	T	0.71341	-0.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80289	-0.1445	10	0.87932	D	0	.	14.9931	0.71406	1.0:0.0:0.0:0.0	.	1578	Q70Z35	PREX2_HUMAN	E	1578	ENSP00000288368:K1578E	ENSP00000288368:K1578E	K	+	1	0	PREX2	69299372	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	7.797000	0.85911	2.371000	0.80710	0.533000	0.62120	AAG	PREX2	-	NULL	ENSG00000046889		0.458	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	202	0.00	0	A	NM_025170		69136818	69136818	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	115	24.18	37	SNP	1.000	G
PRG4	10216	genome.wustl.edu	37	1	186275713	186275713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186275713G>T	ENST00000445192.2	+	7	907	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	PRG4_ENST00000367485.4_Nonsense_Mutation_p.E195*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.E247*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.E247*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.E245*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	288					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGAAACTAAAGAAACTACTAC	0.353																																						dbGAP											0													150.0	166.0	161.0					1																	186275713		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.862G>T	1.37:g.186275713G>T	ENSP00000399679:p.Glu288*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Nonsense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.E288*	ENST00000445192.2	37	c.862	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	4.738	0.137252	0.09032	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	.	.	.	3.59	1.66	0.24008	.	0.181349	0.25692	U	0.028921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.7645	6.2702	0.20951	0.1768:0.1531:0.6701:0.0	.	.	.	.	X	245;247;154;247;195;288	.	.	E	+	1	0	PRG4	184542336	0.585000	0.26774	0.490000	0.27465	0.003000	0.03518	2.116000	0.41930	0.179000	0.19938	-0.390000	0.06520	GAA	PRG4	-	NULL	ENSG00000116690		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	94	0.00	0	G	NM_005807		186275713	186275713	+1	no_errors	ENST00000445192	ensembl	human	known	69_37n	nonsense	67	12.99	10	SNP	0.006	T
PRICKLE2	166336	genome.wustl.edu	37	3	64132656	64132656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:64132656C>A	ENST00000295902.6	-	7	2095	c.1510G>T	c.(1510-1512)Gag>Tag	p.E504*	PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.E560*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	504	Poly-Glu.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTTCCTCCTCATATTTGGGG	0.532																																						dbGAP											0													89.0	90.0	90.0					3																	64132656		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1510G>T	3.37:g.64132656C>A	ENSP00000295902:p.Glu504*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VF44	Nonsense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E504*	ENST00000295902.6	37	c.1510	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	C	44	10.991160	0.99499	.	.	ENSG00000163637	ENST00000295902	.	.	.	5.53	5.53	0.82687	.	0.000000	0.41194	D	0.000929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-34.0038	19.0581	0.93074	0.0:1.0:0.0:0.0	.	.	.	.	X	504	.	ENSP00000295902:E504X	E	-	1	0	PRICKLE2	64107696	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	6.812000	0.75226	2.611000	0.88343	0.491000	0.48974	GAG	PRICKLE2	-	NULL	ENSG00000163637		0.532	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1	80	0.00	0	C	NM_198859		64132656	64132656	-1	no_errors	ENST00000295902	ensembl	human	known	69_37n	nonsense	32	27.27	12	SNP	1.000	A
PRKAB1	5564	genome.wustl.edu	37	12	120114410	120114410	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:120114410C>T	ENST00000229328.5	+	5	1093	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PRKAB1_ENST00000540121.1_Missense_Mutation_p.R35W|PRKAB1_ENST00000541640.1_Missense_Mutation_p.R201W	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	201					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	AGAGCGCTTTCGGGCACCCCC	0.577																																						dbGAP											0													136.0	128.0	130.0					12																	120114410		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.601C>T	12.37:g.120114410C>T	ENSP00000229328:p.Arg201Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.R201W	ENST00000229328.5	37	c.601	CCDS9191.1	12	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205751	0.58234	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596;ENST00000540121;ENST00000545223	.	.	.	5.79	4.66	0.58398	5-AMP-activated protein kinase, beta subunit, interaction domain (1);	0.042391	0.85682	D	0.000000	T	0.61476	0.2350	L	0.57536	1.79	0.32332	N	0.560989	P	0.41643	0.758	P	0.51453	0.67	T	0.71935	-0.4442	9	0.72032	D	0.01	-28.2443	13.0251	0.58810	0.8594:0.1406:0.0:0.0	.	201	Q9Y478	AAKB1_HUMAN	W	201;201;164;35;35	.	ENSP00000229328:R201W	R	+	1	2	PRKAB1	118598793	1.000000	0.71417	0.692000	0.30179	0.142000	0.21351	5.775000	0.68915	1.028000	0.39785	-0.262000	0.10625	CGG	PRKAB1	-	pfam_AMP_prot_kin_bsu_interact-dom	ENSG00000111725		0.577	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB1	HGNC	protein_coding	OTTHUMT00000401731.2	255	0.00	0	C	NM_006253		120114410	120114410	+1	no_errors	ENST00000229328	ensembl	human	known	69_37n	missense	183	13.21	28	SNP	1.000	T
PRKACB	5567	genome.wustl.edu	37	1	84662396	84662396	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:84662396C>A	ENST00000370689.2	+	6	781	c.517C>A	c.(517-519)Ctc>Atc	p.L173I	PRKACB_ENST00000370680.1_Missense_Mutation_p.L179I|PRKACB_ENST00000394839.2_Missense_Mutation_p.L143I|PRKACB_ENST00000370682.3_Missense_Mutation_p.L177I|PRKACB_ENST00000394838.2_Missense_Mutation_p.L180I|PRKACB_ENST00000370688.3_Missense_Mutation_p.L173I|PRKACB_ENST00000370685.3_Missense_Mutation_p.L220I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACCTGAAAATCTCTTAATTGA	0.398																																						dbGAP											0													126.0	109.0	115.0					1																	84662396		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.517C>A	1.37:g.84662396C>A	ENSP00000359723:p.Leu173Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L220I	ENST00000370689.2	37	c.658	CCDS691.1	1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921275	0.33908	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T;T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57;3.57	4.49	3.57	0.40892	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.062057	0.64402	N	0.000003	T	0.02012	0.0063	N	0.00729	-1.24	0.53005	D	0.99996	P;B;B;B;B;B;B;B;B;P;B	0.38129	0.619;0.0;0.0;0.001;0.002;0.0;0.0;0.003;0.001;0.619;0.0	D;B;B;B;B;B;B;B;B;D;B	0.74348	0.983;0.012;0.02;0.079;0.019;0.012;0.012;0.113;0.181;0.983;0.113	T	0.62272	-0.6889	10	0.18710	T	0.47	-4.2736	12.3477	0.55130	0.0:0.9169:0.0:0.0831	.	173;161;180;179;143;179;177;220;220;173;173	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	I	173;173;220;161;177;180;177;179;169;176;179;168;160;143;135	ENSP00000359723:L173I;ENSP00000359722:L173I;ENSP00000359719:L220I;ENSP00000359718:L161I;ENSP00000390906:L177I;ENSP00000378314:L180I;ENSP00000359716:L177I;ENSP00000392275:L169I;ENSP00000393654:L176I;ENSP00000359714:L179I;ENSP00000397175:L168I;ENSP00000399326:L160I;ENSP00000378315:L143I	ENSP00000359713:L179I	L	+	1	0	PRKACB	84434984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.029000	0.70895	0.991000	0.38814	0.585000	0.79938	CTC	PRKACB	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000142875		0.398	PRKACB-001	KNOWN	basic|CCDS	protein_coding	PRKACB	HGNC	protein_coding	OTTHUMT00000027641.1	180	0.00	0	C	NM_182948		84662396	84662396	+1	no_errors	ENST00000370685	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	1.000	A
PRKACB	5567	genome.wustl.edu	37	1	84679970	84679970	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:84679970G>A	ENST00000370689.2	+	9	1164	c.900G>A	c.(898-900)acG>acA	p.T300T	PRKACB_ENST00000394839.2_Silent_p.T270T|PRKACB_ENST00000370682.3_Silent_p.T304T|PRKACB_ENST00000394838.2_Silent_p.T307T|PRKACB_ENST00000370685.3_Silent_p.T347T	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	300	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GGTTTGCCACGACAGATTGGA	0.363																																						dbGAP											0													82.0	83.0	83.0					1																	84679970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.900G>A	1.37:g.84679970G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T347	ENST00000370689.2	37	c.1041	CCDS691.1	1																																																																																			PRKACB	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000142875		0.363	PRKACB-001	KNOWN	basic|CCDS	protein_coding	PRKACB	HGNC	protein_coding	OTTHUMT00000027641.1	248	0.40	1	G	NM_182948		84679970	84679970	+1	no_errors	ENST00000370685	ensembl	human	known	69_37n	silent	138	14.81	24	SNP	0.959	A
PRKAB2	5565	genome.wustl.edu	37	1	146638126	146638126	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:146638126G>A	ENST00000254101.3	-	5	627	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PRKAB2_ENST00000425272.2_Silent_p.F81F	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	163					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.F163F(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TTAAAGCATCGAACACCTCAA	0.343																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											92.0	90.0	90.0					1																	146638126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.489C>T	1.37:g.146638126G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9V5|B4DH06|Q5VXY0	Silent	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.F163	ENST00000254101.3	37	c.489	CCDS925.1	1																																																																																			PRKAB2	-	NULL	ENSG00000131791		0.343	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	HGNC	protein_coding	OTTHUMT00000039471.1	171	0.00	0	G	NM_005399		146638126	146638126	-1	no_errors	ENST00000254101	ensembl	human	known	69_37n	silent	134	15.72	25	SNP	1.000	A
PRKAR2B	5577	genome.wustl.edu	37	7	106786832	106786832	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:106786832G>A	ENST00000265717.4	+	6	926	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	223					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.E223K(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GAGTTTCGGCGAACTGGCCTT	0.423																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											195.0	168.0	177.0					7																	106786832		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.667G>A	7.37:g.106786832G>A	ENSP00000265717:p.Glu223Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0R9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.E223K	ENST00000265717.4	37	c.667	CCDS5740.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.894434	0.97074	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	T	0.59364	0.27	5.57	5.57	0.84162	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.87848	0.2656	10	0.87932	D	0	-0.9786	19.5505	0.95315	0.0:0.0:1.0:0.0	.	223	P31323	KAP3_HUMAN	K	223;223;210	ENSP00000265717:E223K	ENSP00000265717:E223K	E	+	1	0	PRKAR2B	106574068	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	9.807000	0.99171	2.641000	0.89580	0.655000	0.94253	GAA	PRKAR2B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000005249		0.423	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1	346	0.29	1	G			106786832	106786832	+1	no_errors	ENST00000265717	ensembl	human	known	69_37n	missense	210	23.36	64	SNP	1.000	A
PRKAG2	51422	genome.wustl.edu	37	7	151265922	151265922	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:151265922G>A	ENST00000287878.4	-	11	1617	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	PRKAG2_ENST00000433631.2_Silent_p.F246F|PRKAG2_ENST00000492843.1_Silent_p.F247F|PRKAG2_ENST00000418337.2_Silent_p.F130F|PRKAG2_ENST00000392801.2_Silent_p.F327F	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	371	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	ATACAGCATCGAAGAGGCTGT	0.403																																						dbGAP											0													89.0	88.0	89.0					7																	151265922		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1113C>T	7.37:g.151265922G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.F371	ENST00000287878.4	37	c.1113	CCDS5928.1	7																																																																																			PRKAG2	-	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	ENSG00000106617		0.403	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	160	0.00	0	G	NM_016203		151265922	151265922	-1	no_errors	ENST00000287878	ensembl	human	known	69_37n	silent	64	20.00	16	SNP	1.000	A
PRKCE	5581	genome.wustl.edu	37	2	46372292	46372292	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:46372292C>T	ENST00000306156.3	+	12	1980	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TGGCTGACTTCGGGATGTGCA	0.502																																						dbGAP											0													176.0	172.0	173.0					2																	46372292		2107	4112	6219	-	-	-	SO:0001819	synonymous_variant	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1653C>T	2.37:g.46372292C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F551	ENST00000306156.3	37	c.1653	CCDS1824.1	2																																																																																			PRKCE	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000171132		0.502	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	155	0.00	0	C			46372292	46372292	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	silent	121	22.44	35	SNP	0.942	T
PRKCQ	5588	genome.wustl.edu	37	10	6506292	6506292	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:6506292G>A	ENST00000263125.5	-	13	1527	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	PRKCQ_ENST00000397176.2_Silent_p.F476F|PRKCQ_ENST00000539722.1_Silent_p.F351F	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGGAAAGGTCGAACTTGTGGC	0.433																																					Ovarian(50;572 1126 10530 25349 30594)	dbGAP											0													271.0	280.0	277.0					10																	6506292		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1428C>T	10.37:g.6506292G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S249L	ENST00000263125.5	37	c.746	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	G	6.783	0.513443	0.12944	.	.	ENSG00000065675	ENST00000397178	.	.	.	5.11	-1.65	0.08291	.	.	.	.	.	T	0.62974	0.2472	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58132	-0.7690	4	.	.	.	.	12.4698	0.55781	0.8082:0.0:0.1918:0.0	.	.	.	.	L	249	.	.	S	-	2	0	PRKCQ	6546298	0.997000	0.39634	0.905000	0.35620	0.742000	0.42306	0.657000	0.24963	-0.622000	0.05626	-0.251000	0.11542	TCG	PRKCQ	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065675		0.433	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	595	0.00	0	G	NM_006257		6506292	6506292	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000397178	ensembl	human	known	69_37n	missense	457	12.26	64	SNP	1.000	A
PRKD3	23683	genome.wustl.edu	37	2	37496797	37496797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:37496797C>A	ENST00000379066.1	-	13	2500	c.1738G>T	c.(1738-1740)Gag>Tag	p.E580*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.E580*			O94806	KPCD3_HUMAN	protein kinase D3	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CCAAGCACCTCATCTGCAAAG	0.348																																					Melanoma(80;621 1355 8613 11814 51767)	dbGAP											0													90.0	84.0	86.0					2																	37496797		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1738G>T	2.37:g.37496797C>A	ENSP00000368356:p.Glu580*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W587|Q53TR7|Q8NEL8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E580*	ENST00000379066.1	37	c.1738	CCDS1789.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.166292|5.166292	0.94768|0.94768	.|.	.|.	ENSG00000115825|ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443977|ENST00000452104	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.057574|.	0.64402|.	D|.	0.000002|.	.|T	.|0.75882	.|0.3910	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74705	.|-0.3575	.|3	0.37606|.	T|.	0.19|.	-19.9382|-19.9382	19.1746|19.1746	0.93599|0.93599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	580;580;91|26	.|.	ENSP00000234179:E580X|.	E|M	-|-	1|3	0|0	PRKD3|PRKD3	37350301|37350301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.775000|7.775000	0.85489|0.85489	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	GAG|ATG	PRKD3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000115825		0.348	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	303	0.33	1	C	NM_005813		37496797	37496797	-1	no_errors	ENST00000234179	ensembl	human	known	69_37n	nonsense	198	18.85	46	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48701762	48701762	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:48701762C>A	ENST00000314191.2	-	76	10761	c.10705G>T	c.(10705-10707)Gat>Tat	p.D3569Y	PRKDC_ENST00000338368.3_Missense_Mutation_p.D3569Y|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3570					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTAATAAAATCTTGAATCACT	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													67.0	62.0	63.0					8																	48701762		1797	4067	5864	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10705G>T	8.37:g.48701762C>A	ENSP00000313420:p.Asp3569Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D3569Y	ENST00000314191.2	37	c.10705		8	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360127	0.61403	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02579	4.31;4.24	5.72	4.84	0.62591	.	0.215721	0.47093	D	0.000242	T	0.06781	0.0173	M	0.67953	2.075	0.39303	D	0.964935	P;P	0.43973	0.823;0.823	B;B	0.43701	0.428;0.396	T	0.11941	-1.0567	10	0.62326	D	0.03	.	14.2707	0.66149	0.0:0.9279:0.0:0.0721	.	3569;3570	E7EUY0;P78527	.;PRKDC_HUMAN	Y	3569	ENSP00000313420:D3569Y;ENSP00000345182:D3569Y	ENSP00000313420:D3569Y	D	-	1	0	PRKDC	48864315	1.000000	0.71417	0.980000	0.43619	0.974000	0.67602	3.441000	0.52893	1.400000	0.46741	0.655000	0.94253	GAT	PRKDC	-	NULL	ENSG00000253729		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		111	0.00	0	C	NM_001081640		48701762	48701762	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	109	13.49	17	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48736532	48736532	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:48736532C>T	ENST00000314191.2	-	65	8862	c.8806G>A	c.(8806-8808)Gac>Aac	p.D2936N	PRKDC_ENST00000338368.3_Missense_Mutation_p.D2936N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2937	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGGAGGACGTCGTATTCTCCA	0.353								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													92.0	86.0	88.0					8																	48736532		1841	4089	5930	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8806G>A	8.37:g.48736532C>T	ENSP00000313420:p.Asp2936Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D2936N	ENST00000314191.2	37	c.8806		8	.	.	.	.	.	.	.	.	.	.	C	35	5.458868	0.96240	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.07021	3.31;3.23	5.29	5.29	0.74685	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06075	-1.0847	10	0.66056	D	0.02	.	19.3298	0.94281	0.0:1.0:0.0:0.0	.	2936;2937	E7EUY0;P78527	.;PRKDC_HUMAN	N	2936	ENSP00000313420:D2936N;ENSP00000345182:D2936N	ENSP00000313420:D2936N	D	-	1	0	PRKDC	48899085	1.000000	0.71417	0.984000	0.44739	0.951000	0.60555	7.434000	0.80377	2.649000	0.89929	0.650000	0.86243	GAC	PRKDC	-	pfscan_PIK_FAT	ENSG00000253729		0.353	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		368	0.00	0	C	NM_001081640		48736532	48736532	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	192	20.66	50	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48749969	48749969	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:48749969C>T	ENST00000314191.2	-	58	7618	c.7562G>A	c.(7561-7563)cGa>cAa	p.R2521Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2521Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2522	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.R2522Q(1)|p.R2521Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCAGAAATTTCGAATAATTAA	0.383								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											2	Substitution - Missense(2)	large_intestine(2)											36.0	34.0	35.0					8																	48749969		1833	4080	5913	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7562G>A	8.37:g.48749969C>T	ENSP00000313420:p.Arg2521Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2521Q	ENST00000314191.2	37	c.7562		8	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019846	0.54576	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02258	4.44;4.37	5.79	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.02047	0.0064	L	0.38531	1.155	0.53688	D	0.999972	P;P	0.47350	0.894;0.79	B;B	0.31337	0.128;0.128	T	0.66548	-0.5896	10	0.31617	T	0.26	.	13.9256	0.63961	0.0:0.9274:0.0:0.0726	.	2521;2522	E7EUY0;P78527	.;PRKDC_HUMAN	Q	2521	ENSP00000313420:R2521Q;ENSP00000345182:R2521Q	ENSP00000313420:R2521Q	R	-	2	0	PRKDC	48912522	1.000000	0.71417	0.996000	0.52242	0.732000	0.41865	7.487000	0.81328	1.459000	0.47892	-0.229000	0.12294	CGA	PRKDC	-	NULL	ENSG00000253729		0.383	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		52	0.00	0	C	NM_001081640		48749969	48749969	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48752648	48752648	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:48752648G>A	ENST00000314191.2	-	56	7436	c.7380C>T	c.(7378-7380)ttC>ttT	p.F2460F	PRKDC_ENST00000338368.3_Silent_p.F2460F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2461	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGGGAAACGAATTCCACAA	0.333								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													68.0	70.0	69.0					8																	48752648		1834	4079	5913	-	-	-	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7380C>T	8.37:g.48752648G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F2460	ENST00000314191.2	37	c.7380		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.333	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		214	0.00	0	G	NM_001081640		48752648	48752648	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	silent	133	13.92	22	SNP	0.722	A
PRKDC	5591	genome.wustl.edu	37	8	48811042	48811042	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:48811042C>T	ENST00000314191.2	-	29	3508	c.3452G>A	c.(3451-3453)cGa>cAa	p.R1151Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1151Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1151					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGGCAAACGTCGTTTCTTTGC	0.413								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													98.0	96.0	96.0					8																	48811042		1888	4109	5997	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3452G>A	8.37:g.48811042C>T	ENSP00000313420:p.Arg1151Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1151Q	ENST00000314191.2	37	c.3452		8	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866260	0.71949	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03242	4.07;4.0	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (1);	0.072284	0.53938	D	0.000052	T	0.04182	0.0116	.	.	.	0.58432	D	0.999998	P;B	0.43519	0.809;0.435	B;B	0.27500	0.08;0.033	T	0.44559	-0.9320	9	0.72032	D	0.01	.	19.3005	0.94143	0.0:1.0:0.0:0.0	.	1151;1151	E7EUY0;P78527	.;PRKDC_HUMAN	Q	1151	ENSP00000313420:R1151Q;ENSP00000345182:R1151Q	ENSP00000313420:R1151Q	R	-	2	0	PRKDC	48973595	0.999000	0.42202	0.376000	0.26042	0.935000	0.57460	6.734000	0.74801	2.567000	0.86603	0.557000	0.71058	CGA	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.413	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		399	0.00	0	C	NM_001081640		48811042	48811042	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	257	19.38	62	SNP	0.989	T
PRKX	5613	genome.wustl.edu	37	X	3544506	3544506	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:3544506G>T	ENST00000262848.5	-	5	1123	c.769C>A	c.(769-771)Ctt>Att	p.L257I	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TTGCCTGCAAGAATTTTCTGA	0.348																																						dbGAP											0													117.0	102.0	107.0					X																	3544506		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.769C>A	X.37:g.3544506G>T	ENSP00000262848:p.Leu257Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L257I	ENST00000262848.5	37	c.769	CCDS14125.1	X	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936098	0.52972	.	.	ENSG00000183943	ENST00000262848	T	0.68765	-0.35	3.47	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.66327	0.2778	N	0.21545	0.675	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.66732	-0.5849	10	0.56958	D	0.05	-18.0323	6.5063	0.22196	0.1412:0.0:0.8588:0.0	.	257	P51817	PRKX_HUMAN	I	257	ENSP00000262848:L257I	ENSP00000262848:L257I	L	-	1	0	PRKX	3554506	1.000000	0.71417	0.968000	0.41197	0.833000	0.47200	5.288000	0.65651	1.374000	0.46228	0.529000	0.55759	CTT	PRKX	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000183943		0.348	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKX	HGNC	protein_coding	OTTHUMT00000055659.1	255	0.00	0	G	NM_005044		3544506	3544506	-1	no_errors	ENST00000262848	ensembl	human	known	69_37n	missense	277	13.98	45	SNP	1.000	T
PRMT5	10419	genome.wustl.edu	37	14	23395967	23395967	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:23395967C>T	ENST00000324366.8	-	5	730	c.507G>A	c.(505-507)gaG>gaA	p.E169E	PRMT5_ENST00000553897.1_Silent_p.E125E|PRMT5_ENST00000216350.8_Silent_p.E108E|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Silent_p.E152E|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397440.4_Intron|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Silent_p.E63E|PRMT5_ENST00000553641.1_5'UTR	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	169	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTGGTGCATTCTCAATTATAT	0.493																																						dbGAP											0													265.0	194.0	218.0					14																	23395967		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.507G>A	14.37:g.23395967C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.E169	ENST00000324366.8	37	c.507	CCDS9579.1	14																																																																																			PRMT5	-	pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	499	0.20	1	C			23395967	23395967	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	silent	264	31.07	119	SNP	1.000	T
PRMT7	54496	genome.wustl.edu	37	16	68349759	68349759	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:68349759C>T	ENST00000339507.5	+	3	747				PRMT7_ENST00000449359.3_Intron|PRMT7_ENST00000441236.1_Intron|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000564441.1_Intron|RP11-96D1.3_ENST00000563203.1_RNA|PRMT7_ENST00000348497.4_Intron			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TTTTTCTGTTCGTTTGTTTAT	0.403																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.-83-41C>T	16.37:g.68349759C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	RNA	SNP	-	NULL	ENST00000339507.5	37	NULL	CCDS10866.1	16																																																																																			PRMT7	-	-	ENSG00000132600		0.403	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	24	0.00	0	C	NM_019023		68349759	68349759	+1	no_errors	ENST00000563562	ensembl	human	known	69_37n	rna	19	26.92	7	SNP	0.006	T
PRMT8	56341	genome.wustl.edu	37	12	3649918	3649918	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:3649918T>G	ENST00000382622.3	+	2	612	c.222T>G	c.(220-222)gaT>gaG	p.D74E	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.D65E	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	74	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCTCGAGAGATTATTACTTCG	0.552																																						dbGAP											0													177.0	179.0	178.0					12																	3649918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.222T>G	12.37:g.3649918T>G	ENSP00000372067:p.Asp74Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.D74E	ENST00000382622.3	37	c.222	CCDS8521.2	12	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004358	0.74932	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.28454	1.61;1.61	5.64	-2.1	0.07210	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.31476	0.935	0.80722	D	1	D;D	0.69078	0.997;0.989	D;P	0.69654	0.965;0.831	T	0.05683	-1.0870	10	0.44086	T	0.13	.	10.963	0.47395	0.0:0.4453:0.0:0.5547	.	65;74	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	E	65;74	ENSP00000414507:D65E;ENSP00000372067:D74E	ENSP00000372067:D74E	D	+	3	2	PRMT8	3520179	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	1.499000	0.35671	-0.129000	0.11620	-0.371000	0.07208	GAT	PRMT8	-	NULL	ENSG00000111218		0.552	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	94	0.00	0	T	NM_019854		3649918	3649918	+1	no_errors	ENST00000382622	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.995	G
PROKR2	128674	genome.wustl.edu	37	20	5283060	5283060	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:5283060C>T	ENST00000217270.3	-	2	780	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PROKR2_ENST00000546004.1_Missense_Mutation_p.E261K	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	261					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CGAATCTGCTCCGTCTGGAAC	0.607										HNSCC(71;0.22)																												dbGAP											0													55.0	51.0	52.0					20																	5283060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.781G>A	20.37:g.5283060C>T	ENSP00000217270:p.Glu261Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.E261K	ENST00000217270.3	37	c.781	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485782	0.84854	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.34275	1.37;1.37	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.092937	0.64402	D	0.000001	T	0.31295	0.0792	N	0.21282	0.65	0.80722	D	1	P	0.44776	0.843	P	0.44772	0.46	T	0.04678	-1.0934	10	0.36615	T	0.2	.	15.9064	0.79433	0.0:1.0:0.0:0.0	.	261	Q8NFJ6	PKR2_HUMAN	K	261	ENSP00000440790:E261K;ENSP00000217270:E261K	ENSP00000217270:E261K	E	-	1	0	PROKR2	5231060	1.000000	0.71417	0.931000	0.37212	0.842000	0.47809	5.640000	0.67875	2.370000	0.80446	0.655000	0.94253	GAG	PROKR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000101292		0.607	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	65	0.00	0	C	NM_144773		5283060	5283060	-1	no_errors	ENST00000217270	ensembl	human	known	69_37n	missense	38	25.00	13	SNP	0.999	T
PROM1	8842	genome.wustl.edu	37	4	16000007	16000007	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:16000007C>T	ENST00000510224.1	-	15	1931		c.e15+1		PROM1_ENST00000505450.1_Splice_Site|PROM1_ENST00000447510.2_Splice_Site|PROM1_ENST00000539194.1_Splice_Site|PROM1_ENST00000540805.1_Splice_Site|PROM1_ENST00000508167.1_Splice_Site|PROM1_ENST00000543373.1_Splice_Site			O43490	PROM1_HUMAN	prominin 1						camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AATATTGATACCTGTAAACTT	0.289																																						dbGAP											0													66.0	63.0	64.0					4																	16000007		1795	4054	5849	-	-	-	SO:0001630	splice_region_variant	0			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1682+1G>A	4.37:g.16000007C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Splice_Site	SNP	-	e14+1	ENST00000510224.1	37	c.1682+1	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488234	0.64074	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3608	0.90374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROM1	15609105	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	6.390000	0.73204	2.621000	0.88768	0.655000	0.94253	.	PROM1	-	-	ENSG00000007062		0.289	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	202	0.00	0	C	NM_006017	Intron	16000007	16000007	-1	no_errors	ENST00000447510	ensembl	human	known	69_37n	splice_site	109	25.85	38	SNP	1.000	T
PROS1	5627	genome.wustl.edu	37	3	93605277	93605277	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:93605277T>G	ENST00000394236.3	-	11	1542	c.1226A>C	c.(1225-1227)aAa>aCa	p.K409T	PROS1_ENST00000407433.1_Missense_Mutation_p.K278T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	409	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGGTCCAGGTTTATTTATATC	0.348																																						dbGAP											0													137.0	152.0	147.0					3																	93605277		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.1226A>C	3.37:g.93605277T>G	ENSP00000377783:p.Lys409Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.K409T	ENST00000394236.3	37	c.1226	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901847	0.33535	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.75821	-0.97;-0.97	3.42	2.24	0.28232	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.196192	0.52532	U	0.000078	T	0.68933	0.3055	M	0.70595	2.14	0.31873	N	0.619478	P	0.42078	0.77	B	0.43508	0.422	T	0.68667	-0.5348	10	0.30078	T	0.28	.	4.283	0.10841	0.0:0.281:0.0:0.719	.	409	P07225	PROS_HUMAN	T	409;278	ENSP00000377783:K409T;ENSP00000385794:K278T	ENSP00000377783:K409T	K	-	2	0	PROS1	95087967	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.351000	0.52232	1.418000	0.47098	0.533000	0.62120	AAA	PROS1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000184500		0.348	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	416	0.00	0	T	NM_000313		93605277	93605277	-1	no_errors	ENST00000394236	ensembl	human	known	69_37n	missense	223	30.09	96	SNP	1.000	G
PROSER1	80209	genome.wustl.edu	37	13	39587249	39587249	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:39587249A>C	ENST00000352251.3	-	11	2973	c.2140T>G	c.(2140-2142)Tct>Gct	p.S714A	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S692A	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	714	Ser-rich.																GGATTAAGAGATGGGTTGCCA	0.488																																						dbGAP											0													168.0	179.0	175.0					13																	39587249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2140T>G	13.37:g.39587249A>C	ENSP00000332034:p.Ser714Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.S692A	ENST00000352251.3	37	c.2074	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	A	6.708	0.499217	0.12762	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.32272	1.46;1.46	5.03	-3.61	0.04556	.	.	.	.	.	T	0.10551	0.0258	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38243	-0.9670	8	.	.	.	-5.224	8.7419	0.34562	0.2405:0.5891:0.1705:0.0	.	692;714	A6NJ97;Q86XN7	.;PRSR1_HUMAN	A	714;692	ENSP00000332034:S714A;ENSP00000339123:S692A	.	S	-	1	0	PROSER1	38485249	0.039000	0.19947	0.001000	0.08648	0.751000	0.42716	0.248000	0.18198	-0.226000	0.09899	0.459000	0.35465	TCT	PROSER1	-	NULL	ENSG00000120685		0.488	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	831	0.00	0	A	NM_025138		39587249	39587249	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	missense	372	25.40	127	SNP	0.005	C
PROX1	5629	genome.wustl.edu	37	1	214171544	214171544	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214171544A>C	ENST00000366958.4	+	2	2274	c.1666A>C	c.(1666-1668)Aag>Cag	p.K556Q	PROX1_ENST00000261454.4_Missense_Mutation_p.K556Q|PROX1_ENST00000435016.1_Missense_Mutation_p.K556Q|PROX1_ENST00000498508.2_Missense_Mutation_p.K556Q	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	556					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTCGCTCATAAAGTCCGAGTG	0.498																																						dbGAP											0													93.0	97.0	95.0					1																	214171544		2203	4300	6503	-	-	-	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1666A>C	1.37:g.214171544A>C	ENSP00000355925:p.Lys556Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.K556Q	ENST00000366958.4	37	c.1666	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.205957	0.95033	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.52754	0.66;0.65;0.66;0.66	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.70029	-0.4984	10	0.52906	T	0.07	-6.8127	16.1596	0.81693	1.0:0.0:0.0:0.0	.	556	Q92786	PROX1_HUMAN	Q	128;556;556;556;556	ENSP00000420283:K556Q;ENSP00000355925:K556Q;ENSP00000400694:K556Q;ENSP00000261454:K556Q	ENSP00000261454:K556Q	K	+	1	0	PROX1	212238167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.216000	0.71823	0.533000	0.62120	AAG	PROX1	-	pfam_Prox1	ENSG00000117707		0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	220	0.00	0	A	NM_002763		214171544	214171544	+1	no_errors	ENST00000261454	ensembl	human	known	69_37n	missense	175	15.87	33	SNP	1.000	C
PROX2	283571	genome.wustl.edu	37	14	75323650	75323650	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:75323650G>A	ENST00000445876.1	-	4	1461	c.1462C>T	c.(1462-1464)Cgt>Tgt	p.R488C	PROX2_ENST00000556489.2_Missense_Mutation_p.R488C|RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556084.2_Missense_Mutation_p.R261C			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	488					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TAAAACTCACGAAAGTTGCTG	0.453																																						dbGAP											0													157.0	153.0	154.0					14																	75323650		1894	4130	6024	-	-	-	SO:0001583	missense	0				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.1462C>T	14.37:g.75323650G>A	ENSP00000405932:p.Arg488Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.R488C	ENST00000445876.1	37	c.1462	CCDS45136.2	14	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288255	0.80803	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	T;T	0.59224	0.28;0.28	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82694	-0.0330	10	0.87932	D	0	.	19.7863	0.96440	0.0:0.0:1.0:0.0	.	488;261	G3V3G0;Q3B8N5-2	.;.	C	488;488;261;488	ENSP00000451223:R488C;ENSP00000405932:R488C	ENSP00000374315:R488C	R	-	1	0	PROX2	74393403	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.524000	0.60552	2.665000	0.90641	0.655000	0.94253	CGT	PROX2	-	pfam_Prox1,superfamily_Homeodomain-like	ENSG00000119608		0.453	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		119	0.00	0	G			75323650	75323650	-1	no_errors	ENST00000445876	ensembl	human	known	69_37n	missense	97	37.82	59	SNP	1.000	A
PROX2	283571	genome.wustl.edu	37	14	75329735	75329735	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:75329735C>T	ENST00000445876.1	-	1	802	c.803G>A	c.(802-804)aGa>aAa	p.R268K	PROX2_ENST00000556489.2_Missense_Mutation_p.R268K|PROX2_ENST00000556084.2_Intron			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	268					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGCTCGCTTCTACCCTCTGC	0.592																																						dbGAP											0													39.0	43.0	42.0					14																	75329735		1916	4132	6048	-	-	-	SO:0001583	missense	0				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.803G>A	14.37:g.75329735C>T	ENSP00000405932:p.Arg268Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.R268K	ENST00000445876.1	37	c.803	CCDS45136.2	14	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852961	0.17106	.	.	ENSG00000119608	ENST00000556489;ENST00000389664;ENST00000445876	T;T	0.41400	1.0;1.0	5.74	1.0	0.19881	.	1.569530	0.03368	N	0.198520	T	0.30947	0.0781	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.16217	-1.0410	10	0.24483	T	0.36	-0.0335	7.1891	0.25816	0.0:0.6285:0.125:0.2466	.	268	G3V3G0	.	K	268	ENSP00000451223:R268K;ENSP00000405932:R268K	ENSP00000374315:R268K	R	-	2	0	PROX2	74399488	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.027000	0.13621	0.271000	0.22005	-0.438000	0.05819	AGA	PROX2	-	NULL	ENSG00000119608		0.592	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		87	0.00	0	C			75329735	75329735	-1	no_errors	ENST00000445876	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	0.000	T
PRPF18	8559	genome.wustl.edu	37	10	13658488	13658488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:13658488G>T	ENST00000378572.3	+	9	1043	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	295					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AACTGGCAGAGAAAAGATTTT	0.448																																						dbGAP											0													125.0	118.0	120.0					10																	13658488		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.883G>T	10.37:g.13658488G>T	ENSP00000367835:p.Glu295*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9P9|Q9BUI9	Nonsense_Mutation	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.E295*	ENST00000378572.3	37	c.883	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.103361	0.98066	.	.	ENSG00000165630	ENST00000378572	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.2575	19.0325	0.92963	0.0:0.0:1.0:0.0	.	.	.	.	X	295	.	.	E	+	1	0	PRPF18	13698494	1.000000	0.71417	0.979000	0.43373	0.952000	0.60782	7.987000	0.88182	2.488000	0.83962	0.650000	0.86243	GAA	PRPF18	-	pfam_Prp18,superfamily_Prp18	ENSG00000165630		0.448	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	141	0.70	1	G			13658488	13658488	+1	no_errors	ENST00000378572	ensembl	human	known	69_37n	nonsense	96	16.52	19	SNP	1.000	T
PRPF3	9129	genome.wustl.edu	37	1	150318498	150318498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150318498C>T	ENST00000324862.6	+	13	1810	c.1645C>T	c.(1645-1647)Cga>Tga	p.R549*	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000414970.2_Nonsense_Mutation_p.R500*	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	549					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTCCAGAGTTCGAAATTTGAG	0.453																																					Ovarian(168;1070 2670 5178 20729)	dbGAP											0													139.0	151.0	147.0					1																	150318498		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1645C>T	1.37:g.150318498C>T	ENSP00000315379:p.Arg549*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSY9|O43446|Q5VT54	Nonsense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI	p.R549*	ENST00000324862.6	37	c.1645	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.604029	0.97697	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	.	.	.	5.9	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2032	9.051	0.36376	0.2547:0.6774:0.0:0.0679	.	.	.	.	X	549;500	.	ENSP00000315379:R549X	R	+	1	2	PRPF3	148585122	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.843000	0.48238	1.507000	0.48752	-0.218000	0.12543	CGA	PRPF3	-	pfam_DUF1115	ENSG00000117360		0.453	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	120	0.00	0	C	NM_004698		150318498	150318498	+1	no_errors	ENST00000324862	ensembl	human	known	69_37n	nonsense	120	20.26	31	SNP	1.000	T
PRPF40B	25766	genome.wustl.edu	37	12	50037486	50037486	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50037486G>A	ENST00000380281.1	+	23	2394	c.2330G>A	c.(2329-2331)cGg>cAg	p.R777Q	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R798Q|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R764Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	777					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CATGGCCTTCGGAAAGCCAAG	0.423																																						dbGAP											0													62.0	64.0	63.0					12																	50037486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2330G>A	12.37:g.50037486G>A	ENSP00000369634:p.Arg777Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.R777Q	ENST00000380281.1	37	c.2330		12	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320161	0.41096	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.25085	1.82;1.82	4.8	4.8	0.61643	.	0.670897	0.13651	N	0.372316	T	0.13884	0.0336	N	0.22421	0.69	0.80722	D	1	P;P;P	0.47762	0.839;0.9;0.9	B;B;B	0.35278	0.098;0.199;0.199	T	0.04593	-1.0940	10	0.16420	T	0.52	-5.913	10.7702	0.46319	0.0882:0.0:0.9118:0.0	.	777;764;776	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	764;777	ENSP00000261897:R764Q;ENSP00000369634:R777Q	ENSP00000261897:R764Q	R	+	2	0	PRPF40B	48323753	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.548000	0.67255	2.696000	0.92011	0.555000	0.69702	CGG	PRPF40B	-	NULL	ENSG00000110844		0.423	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	228	0.00	0	G	NM_012272		50037486	50037486	+1	no_errors	ENST00000380281	ensembl	human	known	69_37n	missense	168	11.58	22	SNP	1.000	A
PRR14L	253143	genome.wustl.edu	37	22	32109741	32109741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32109741C>A	ENST00000327423.6	-	4	4273	c.4084G>T	c.(4084-4086)Gaa>Taa	p.E1362*	PRR14L_ENST00000397493.2_Nonsense_Mutation_p.E1362*|PRR14L_ENST00000434485.1_Nonsense_Mutation_p.E1362*|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1362										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TCGCCAGTTTCTCTGGTAACC	0.468																																						dbGAP											0													109.0	92.0	97.0					22																	32109741		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.4084G>T	22.37:g.32109741C>A	ENSP00000331845:p.Glu1362*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Nonsense_Mutation	SNP	NULL	p.E1362*	ENST00000327423.6	37	c.4084	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	43	9.834744	0.99275	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	.	.	.	5.28	0.532	0.17114	.	1.171550	0.06356	N	0.710782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4712	4.3864	0.11319	0.0:0.5162:0.162:0.3218	.	.	.	.	X	1362	.	.	E	-	1	0	PRR14L	30439741	0.055000	0.20627	0.000000	0.03702	0.022000	0.10575	0.293000	0.19029	0.138000	0.18790	-0.142000	0.14014	GAA	PRR14L	-	NULL	ENSG00000183530		0.468	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	243	0.00	0	C	NM_173566		32109741	32109741	-1	no_errors	ENST00000397493	ensembl	human	known	69_37n	nonsense	241	26.52	87	SNP	0.000	A
PRR14L	253143	genome.wustl.edu	37	22	32112546	32112546	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32112546G>A	ENST00000327423.6	-	4	1468	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	PRR14L_ENST00000397493.2_Missense_Mutation_p.R427C|PRR14L_ENST00000434485.1_Missense_Mutation_p.R427C|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	427										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CCAGAACAACGACCACTAATC	0.398																																						dbGAP											0													53.0	48.0	49.0					22																	32112546		692	1591	2283	-	-	-	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1279C>T	22.37:g.32112546G>A	ENSP00000331845:p.Arg427Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.R427C	ENST00000327423.6	37	c.1279	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	G	0.147	-1.095289	0.01858	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06218	3.33;3.34;3.34	4.19	1.95	0.26073	.	0.660669	0.14420	N	0.320711	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47995	-0.9073	9	.	.	.	0.2018	4.7377	0.12997	0.2858:0.1801:0.5341:0.0	.	427;427;427	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	C	427	ENSP00000380630:R427C;ENSP00000331845:R427C;ENSP00000388314:R427C	.	R	-	1	0	PRR14L	30442546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.439000	0.06897	0.043000	0.15746	-0.810000	0.03169	CGT	PRR14L	-	NULL	ENSG00000183530		0.398	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	181	0.00	0	G	NM_173566		32112546	32112546	-1	no_errors	ENST00000397493	ensembl	human	known	69_37n	missense	153	26.32	55	SNP	0.000	A
PRR23B	389151	genome.wustl.edu	37	3	138739247	138739247	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:138739247G>A	ENST00000329447.5	-	1	521	c.257C>T	c.(256-258)tCg>tTg	p.S86L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	86								p.S86L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGCAGGATCGACGTTGGTGC	0.667																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											40.0	36.0	37.0					3																	138739247		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.257C>T	3.37:g.138739247G>A	ENSP00000328768:p.Ser86Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV9	Missense_Mutation	SNP	pfam_UPF0572	p.S86L	ENST00000329447.5	37	c.257	CCDS33868.1	3	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940716	0.52972	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.26	1.26	0.21427	.	1.270670	0.05818	N	0.615315	T	0.64724	0.2624	M	0.70275	2.135	0.09310	N	1	D	0.76494	0.999	D	0.62955	0.909	T	0.48937	-0.8990	9	0.87932	D	0	.	8.9014	0.35497	0.0:0.4552:0.5448:0.0	.	86	Q6ZRT6	PR23B_HUMAN	L	86	.	ENSP00000328768:S86L	S	-	2	0	PRR23B	140221937	0.008000	0.16893	0.001000	0.08648	0.013000	0.08279	0.926000	0.28804	0.319000	0.23209	0.491000	0.48974	TCG	PRR23B	-	pfam_UPF0572	ENSG00000184814		0.667	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	67	0.00	0	G	NM_001013650		138739247	138739247	-1	no_errors	ENST00000329447	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.001	A
PRR5L	79899	genome.wustl.edu	37	11	36458966	36458966	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:36458966C>A	ENST00000378867.3	+	7	739	c.384C>A	c.(382-384)gtC>gtA	p.V128V	PRR5L_ENST00000527487.1_Silent_p.V128V|PRR5L_ENST00000530639.1_Silent_p.V128V|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.V102V	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	128					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TGGCTGAAGTCTGGGACCACT	0.483																																						dbGAP											0													262.0	229.0	240.0					11																	36458966		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.384C>A	11.37:g.36458966C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	pfam_HbrB	p.V128	ENST00000378867.3	37	c.384	CCDS31463.1	11																																																																																			PRR5L	-	pfam_HbrB	ENSG00000135362		0.483	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	377	0.00	0	C	NM_024841		36458966	36458966	+1	no_errors	ENST00000378867	ensembl	human	known	69_37n	silent	244	28.86	99	SNP	1.000	A
PRRX1	5396	genome.wustl.edu	37	1	170633455	170633455	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:170633455G>T	ENST00000239461.6	+	1	409	c.96G>T	c.(94-96)aaG>aaT	p.K32N	PRRX1_ENST00000367760.3_Missense_Mutation_p.K32N|PRRX1_ENST00000497230.2_Missense_Mutation_p.K32N	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	32					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGCGAAAAAGAACTTCTCCG	0.667																																						dbGAP											0													44.0	42.0	43.0					1																	170633455		2202	4300	6502	-	-	-	SO:0001583	missense	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.96G>T	1.37:g.170633455G>T	ENSP00000239461:p.Lys32Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.K32N	ENST00000239461.6	37	c.96	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518115	0.64634	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230	D;D;D	0.91631	-2.81;-2.88;-2.8	4.73	3.81	0.43845	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.78314	0.981;0.991	D	0.91301	0.5067	10	0.52906	T	0.07	.	11.9107	0.52737	0.0858:0.0:0.9142:0.0	.	32;32	P54821;P54821-2	PRRX1_HUMAN;.	N	32	ENSP00000356734:K32N;ENSP00000239461:K32N;ENSP00000450762:K32N	ENSP00000239461:K32N	K	+	3	2	PRRX1	168900079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.656000	0.91102	1.207000	0.43291	0.555000	0.69702	AAG	PRRX1	-	NULL	ENSG00000116132		0.667	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	79	0.00	0	G	NM_006902		170633455	170633455	+1	no_errors	ENST00000239461	ensembl	human	known	69_37n	missense	43	10.42	5	SNP	1.000	T
PRRC2C	23215	genome.wustl.edu	37	1	171509729	171509729	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:171509729G>A	ENST00000338920.4	+	16	3355	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E1042K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E1042K|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E1040K	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1040					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAAAAGGCCGAAAAGGTCAC	0.463																																						dbGAP											0													90.0	88.0	89.0					1																	171509729		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3118G>A	1.37:g.171509729G>A	ENSP00000343629:p.Glu1040Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.E1042K	ENST00000338920.4	37	c.3124	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900653	0.17686	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01963	4.53;4.53;4.53;4.53	5.98	5.98	0.97165	.	0.000000	0.46145	D	0.000306	T	0.00754	0.0025	N	0.17082	0.46	0.45056	D	0.998071	B	0.31817	0.341	B	0.19148	0.024	T	0.63093	-0.6714	10	0.41790	T	0.15	.	11.3589	0.49632	0.1077:0.0:0.8923:0.0	.	1040	Q9Y520-4	.	K	1042;1041;1040;1042;1040;797	ENSP00000375928:E1042K;ENSP00000410219:E1040K;ENSP00000356716:E1042K;ENSP00000343629:E1040K	ENSP00000343629:E1040K	E	+	1	0	PRRC2C	169776353	0.274000	0.24191	0.803000	0.32268	0.211000	0.24417	2.755000	0.47540	2.835000	0.97688	0.650000	0.86243	GAA	PRRC2C	-	NULL	ENSG00000117523		0.463	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	306	0.00	0	G	NM_015172		171509729	171509729	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	missense	192	16.16	37	SNP	0.974	A
PRSS16	10279	genome.wustl.edu	37	6	27222813	27222813	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:27222813C>A	ENST00000230582.3	+	11	1394	c.1379C>A	c.(1378-1380)tCc>tAc	p.S460Y	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.S203Y	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	460					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTTTAGGATCCTCAGAATCA	0.572																																					NSCLC(178;1118 2105 17078 23587 44429)	dbGAP											0													122.0	129.0	127.0					6																	27222813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1379C>A	6.37:g.27222813C>A	ENSP00000230582:p.Ser460Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75416	Missense_Mutation	SNP	pfam_Peptidase_S28	p.S460Y	ENST00000230582.3	37	c.1379	CCDS4623.1	6	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456740	0.26161	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.15487	2.42;2.42	4.64	1.7	0.24286	.	1.236870	0.05260	N	0.515589	T	0.06554	0.0168	L	0.60455	1.87	0.09310	N	1	B;B	0.29481	0.245;0.102	B;B	0.27715	0.082;0.055	T	0.40905	-0.9538	10	0.56958	D	0.05	-0.3408	3.8227	0.08842	0.1557:0.4535:0.3032:0.0876	.	203;460	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	Y	203;460	ENSP00000404349:S203Y;ENSP00000230582:S460Y	ENSP00000230582:S460Y	S	+	2	0	PRSS16	27330792	0.001000	0.12720	0.000000	0.03702	0.307000	0.27823	0.565000	0.23578	0.244000	0.21351	0.552000	0.68991	TCC	PRSS16	-	pfam_Peptidase_S28	ENSG00000112812		0.572	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS16	HGNC	protein_coding	OTTHUMT00000043418.2	72	0.00	0	C			27222813	27222813	+1	no_errors	ENST00000230582	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.001	A
PRSS35	167681	genome.wustl.edu	37	6	84234348	84234348	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:84234348C>T	ENST00000369700.3	+	2	1365	c.1188C>T	c.(1186-1188)taC>taT	p.Y396Y	PRSS35_ENST00000536636.1_Silent_p.Y396Y	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	396	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.Y396Y(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCCTAAAATACGCCCAGATTT	0.502																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											64.0	47.0	53.0					6																	84234348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1188C>T	6.37:g.84234348C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B3|Q9BQP6	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.Y396	ENST00000369700.3	37	c.1188	CCDS4999.1	6																																																																																			PRSS35	-	superfamily_Pept_cys/ser_Trypsin-like	ENSG00000146250		0.502	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	89	0.00	0	C	NM_153362		84234348	84234348	+1	no_errors	ENST00000369700	ensembl	human	known	69_37n	silent	77	12.50	11	SNP	0.948	T
PRSS41	360226	genome.wustl.edu	37	16	2849457	2849457	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:2849457C>A	ENST00000399677.1	+	0	467				SNORA3_ENST00000408792.1_RNA			Q7RTY9	PRS41_HUMAN	protease, serine, 41							anchored component of membrane (GO:0031225)|intracellular organelle (GO:0043229)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)										CTGGCCTCTTCTGTCACCTAC	0.552																																						dbGAP											0													225.0	172.0	188.0					16																	2849457		692	1591	2283	-	-	-			0					16p13.3	2014-04-01			ENSG00000215148	ENSG00000215148		"""Serine peptidases / Serine peptidases"""	30715	other	unknown	"""testis serine protease 1"""					12838346	Standard	NM_001135086		Approved	TESSP1	uc010uwi.2	Q7RTY9	OTTHUMG00000128932		16.37:g.2849457C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000399677.1	37	NULL		16																																																																																			PRSS41	-	-	ENSG00000215148		0.552	PRSS41-002	KNOWN	basic	processed_transcript	PRSS41	HGNC	pseudogene	OTTHUMT00000436450.1	74	0.00	0	C	NM_183379		2849457	2849457	+1	no_errors	ENST00000399677	ensembl	human	known	69_37n	rna	25	39.02	16	SNP	0.003	A
PRSS54	221191	genome.wustl.edu	37	16	58314181	58314181	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:58314181C>T	ENST00000219301.4	-	7	1529	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	PRSS54_ENST00000567164.1_Missense_Mutation_p.E379K|CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E280K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	379						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E379K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATTTCTTCGGGCTGATAC	0.473																																						dbGAP											1	Substitution - Missense(1)	skin(1)											105.0	98.0	100.0					16																	58314181		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.1135G>A	16.37:g.58314181C>T	ENSP00000219301:p.Glu379Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LN9|Q9NT77	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	p.E379K	ENST00000219301.4	37	c.1135	CCDS32463.1	16	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783849	0.16189	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;D	0.88586	-2.39;-2.4	5.91	3.95	0.45737	.	0.782790	0.11865	N	0.521943	T	0.78597	0.4308	N	0.14661	0.345	0.18873	N	0.999986	B	0.20164	0.042	B	0.04013	0.001	T	0.63523	-0.6618	10	0.25751	T	0.34	-0.3129	9.4823	0.38908	0.0:0.1628:0.6819:0.1553	.	379	Q6PEW0	PRS54_HUMAN	K	379;280	ENSP00000219301:E379K;ENSP00000437705:E280K	ENSP00000219301:E379K	E	-	1	0	PRSS54	56871682	0.990000	0.36364	0.792000	0.32020	0.000000	0.00434	2.053000	0.41326	0.834000	0.34852	-0.910000	0.02820	GAA	PRSS54	-	NULL	ENSG00000103023		0.473	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS54	HGNC	protein_coding	OTTHUMT00000422556.1	251	0.00	0	C	NM_001080492		58314181	58314181	-1	no_errors	ENST00000219301	ensembl	human	known	69_37n	missense	150	16.20	29	SNP	0.775	T
PRUNE2	158471	genome.wustl.edu	37	9	79253109	79253109	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:79253109G>T	ENST00000376718.3	-	13	8947	c.8824C>A	c.(8824-8826)Ctt>Att	p.L2942I	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Missense_Mutation_p.L2584I|PRUNE2_ENST00000223609.6_Missense_Mutation_p.L207I|PRUNE2_ENST00000443509.2_Missense_Mutation_p.L191I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2942	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACAGGAAAAGATTTTCCATG	0.423																																						dbGAP											0													59.0	54.0	55.0					9																	79253109		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8824C>A	9.37:g.79253109G>T	ENSP00000365908:p.Leu2942Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L2584I	ENST00000376718.3	37	c.7750	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.789394|4.789394	0.90367|0.90367	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.71222|.	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55|.	5.46|5.46	5.46|5.46	0.80206|0.80206	Cellular retinaldehyde-binding/triple function, C-terminal (3);|.	0.057453|.	0.64402|.	D|.	0.000001|.	D|D	0.83788|0.83788	0.5330|0.5330	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.995;0.999;0.992;1.0|.	D;D;P;D|.	0.91635|.	0.974;0.981;0.802;0.999|.	D|D	0.85445|0.85445	0.1157|0.1157	10|5	0.62326|.	D|.	0.03|.	-16.1531|-16.1531	19.3181|19.3181	0.94224|0.94224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	207;206;191;2942|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3|.	.;.;.;PRUN2_HUMAN|.	I|Y	207;2942;2584;163;191;115;207;2945|2266	ENSP00000365907:L207I;ENSP00000365908:L2942I;ENSP00000397425:L2584I;ENSP00000393843:L191I;ENSP00000393657:L115I;ENSP00000223609:L207I|.	ENSP00000223609:L207I|.	L|S	-|-	1|2	0|0	PRUNE2|PRUNE2	78442929|78442929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.476000|9.476000	0.97823|0.97823	2.584000|2.584000	0.87258|0.87258	0.555000|0.555000	0.69702|0.69702	CTT|TCT	PRUNE2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000106772		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	82	0.00	0	G	NM_138818		79253109	79253109	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	70	15.66	13	SNP	1.000	T
PRUNE2	158471	genome.wustl.edu	37	9	79321549	79321549	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:79321549T>C	ENST00000376718.3	-	8	5764	c.5641A>G	c.(5641-5643)Aca>Gca	p.T1881A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T1522A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1881					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTATAGTGTGTTTCCACGGGC	0.468																																						dbGAP											0													77.0	66.0	69.0					9																	79321549		1568	3582	5150	-	-	-	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5641A>G	9.37:g.79321549T>C	ENSP00000365908:p.Thr1881Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.T1522A	ENST00000376718.3	37	c.4564	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.135|2.135	-0.398197|-0.398197	0.04865|0.04865	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.48836	.|0.8;0.81	6.04|6.04	-4.12|-4.12	0.03916|0.03916	.|.	.|1.042900	.|0.07522	.|N	.|0.910637	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.33471|0.33471	-0.9867|-0.9867	5|10	.|0.32370	.|T	.|0.25	-2.555|-2.555	1.0614|1.0614	0.01601|0.01601	0.1824:0.2865:0.1867:0.3444|0.1824:0.2865:0.1867:0.3444	.|.	.|1881	.|Q8WUY3	.|PRUN2_HUMAN	S|A	1202|1881;1522;1880	.|ENSP00000365908:T1881A;ENSP00000397425:T1522A	.|ENSP00000365908:T1881A	N|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78511369|78511369	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.029000|0.029000	0.11900|0.11900	-0.830000|-0.830000	0.04410|0.04410	-0.313000|-0.313000	0.08728|0.08728	-0.441000|-0.441000	0.05720|0.05720	AAC|ACA	PRUNE2	-	NULL	ENSG00000106772		0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	101	0.00	0	T	NM_138818		79321549	79321549	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	51	31.58	24	SNP	0.000	C
PSAT1	29968	genome.wustl.edu	37	9	80943014	80943014	+	Missense_Mutation	SNP	G	G	A	rs373209481		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:80943014G>A	ENST00000376588.3	+	8	985	c.917G>A	c.(916-918)cGc>cAc	p.R306H	PSAT1_ENST00000347159.2_Intron	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	306					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						ATTCCATTCCGCATTGGCAAT	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18653	0.0		0.0	False		,,,				2504	0.0				Colon(34;187 791 10662 18313 37609)	dbGAP											0													69.0	68.0	68.0					9																	80943014		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.917G>A	9.37:g.80943014G>A	ENSP00000365773:p.Arg306His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	p.R306H	ENST00000376588.3	37	c.917	CCDS6660.1	9	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834517	0.71373	.	.	ENSG00000135069	ENST00000421149;ENST00000376588	D	0.86769	-2.17	5.62	3.75	0.43078	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.103708	0.64402	D	0.000002	D	0.91560	0.7334	M	0.80508	2.5	0.58432	D	0.999994	D	0.89917	1.0	D	0.70227	0.968	D	0.88369	0.2993	10	0.15066	T	0.55	-27.359	12.3153	0.54953	0.1262:0.0:0.8738:0.0	.	306	Q9Y617	SERC_HUMAN	H	130;306	ENSP00000365773:R306H	ENSP00000365773:R306H	R	+	2	0	PSAT1	80132834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.596000	0.54024	2.652000	0.90054	0.655000	0.94253	CGC	PSAT1	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	ENSG00000135069		0.373	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAT1	HGNC	protein_coding	OTTHUMT00000052777.1	184	0.54	1	G	NM_021154		80943014	80943014	+1	no_errors	ENST00000376588	ensembl	human	known	69_37n	missense	145	12.05	20	SNP	1.000	A
PSCA	8000	genome.wustl.edu	37	8	143762930	143762930	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:143762930C>A	ENST00000513264.1	+	0	293				PSCA_ENST00000301258.4_Intron|PSCA_ENST00000505305.1_3'UTR			O43653	PSCA_HUMAN	prostate stem cell antigen							anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGTCCGCATCTGTGTGCTGT	0.617																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000513264.1:c.*46C>A	8.37:g.143762930C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW92	RNA	SNP	-	NULL	ENST00000513264.1	37	NULL		8																																																																																			PSCA	-	-	ENSG00000167653		0.617	PSCA-002	PUTATIVE	basic	protein_coding	PSCA	HGNC	protein_coding	OTTHUMT00000367113.2	17	0.00	0	C	NM_005672		143762930	143762930	+1	no_errors	ENST00000505305	ensembl	human	known	69_37n	rna	6	57.14	8	SNP	0.000	A
PSD2	84249	genome.wustl.edu	37	5	139213319	139213319	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:139213319C>A	ENST00000274710.3	+	8	1507	c.1302C>A	c.(1300-1302)ttC>ttA	p.F434L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	434	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCAATTCATTGCCAACT	0.512																																						dbGAP											0													245.0	226.0	232.0					5																	139213319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1302C>A	5.37:g.139213319C>A	ENSP00000274710:p.Phe434Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.F434L	ENST00000274710.3	37	c.1302	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411673	0.62399	.	.	ENSG00000146005	ENST00000274710	T	0.79554	-1.28	5.16	5.16	0.70880	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.049600	0.85682	D	0.000000	D	0.85906	0.5806	M	0.92169	3.28	0.80722	D	1	P	0.36354	0.549	B	0.40782	0.34	D	0.88168	0.2862	10	0.87932	D	0	.	11.6582	0.51330	0.0:0.9176:0.0:0.0824	.	434	Q9BQI7	PSD2_HUMAN	L	434	ENSP00000274710:F434L	ENSP00000274710:F434L	F	+	3	2	PSD2	139193503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.093000	0.30939	2.560000	0.86352	0.542000	0.68232	TTC	PSD2	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7	ENSG00000146005		0.512	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	355	0.00	0	C	NM_032289		139213319	139213319	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	missense	202	31.06	91	SNP	1.000	A
PSG8	440533	genome.wustl.edu	37	19	43259203	43259203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:43259203G>A	ENST00000306511.4	-	4	1022	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Nonsense_Mutation_p.Q187*|PSG8_ENST00000404209.4_Nonsense_Mutation_p.Q309*|PSG8_ENST00000401467.2_Nonsense_Mutation_p.Q216*	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	309	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTTCACATTGATAGGGTCCT	0.498																																						dbGAP											0													192.0	189.0	190.0					19																	43259203		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.925C>T	19.37:g.43259203G>A	ENSP00000305005:p.Gln309*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q309*	ENST00000306511.4	37	c.925	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	N	12.44	1.937395	0.34189	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	.	.	.	1.38	0.193	0.15139	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.4174	0.16382	0.0:0.6322:0.3678:0.0	.	.	.	.	X	309;187;216;121;216;309	.	ENSP00000305005:Q309X	Q	-	1	0	PSG8	47951043	0.022000	0.18835	0.221000	0.23827	0.009000	0.06853	-0.412000	0.07132	-0.072000	0.12864	-0.789000	0.03336	CAA	PSG8	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000124467		0.498	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	713	0.00	0	G			43259203	43259203	-1	no_errors	ENST00000306511	ensembl	human	known	69_37n	nonsense	457	16.36	90	SNP	0.457	A
PSG9	5678	genome.wustl.edu	37	19	43762547	43762547	+	Silent	SNP	G	G	A	rs573691621		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:43762547G>A	ENST00000270077.3	-	5	1146	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	PSG9_ENST00000593948.1_Silent_p.L257L|PSG9_ENST00000596730.1_Silent_p.L164L|PSG9_ENST00000443718.3_Silent_p.L257L|PSG9_ENST00000418820.2_Silent_p.L257L|PSG9_ENST00000244293.7_Silent_p.L257L|PSG9_ENST00000291752.5_Silent_p.L164L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	350	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGACAAGTCGAGGTTTTCTC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		15849	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													136.0	165.0	156.0					19																	43762547		2138	4278	6416	-	-	-	SO:0001819	synonymous_variant	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1050C>T	19.37:g.43762547G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L350	ENST00000270077.3	37	c.1050	CCDS12618.1	19																																																																																			PSG9	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000183668		0.453	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	356	0.28	1	G	NM_002784		43762547	43762547	-1	no_errors	ENST00000270077	ensembl	human	known	69_37n	silent	342	10.91	42	SNP	0.002	A
PSMC1	5700	genome.wustl.edu	37	14	90731485	90731485	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:90731485C>A	ENST00000261303.8	+	7	769	c.666C>A	c.(664-666)gtC>gtA	p.V222V	PSMC1_ENST00000543772.2_Silent_p.V149V	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	222					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTAAGGGGGTCATTCTCTATG	0.448																																						dbGAP											0													82.0	82.0	82.0					14																	90731485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.666C>A	14.37:g.90731485C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.V222	ENST00000261303.8	37	c.666	CCDS32139.1	14																																																																																			PSMC1	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000100764		0.448	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1	140	0.00	0	C	NM_002802		90731485	90731485	+1	no_errors	ENST00000261303	ensembl	human	known	69_37n	silent	51	27.78	20	SNP	1.000	A
PSMC4	5704	genome.wustl.edu	37	19	40480526	40480526	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40480526G>A	ENST00000157812.2	+	5	763	c.565G>A	c.(565-567)Gag>Aag	p.E189K	PSMC4_ENST00000455878.2_Missense_Mutation_p.E158K	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACGCATTTCGAGCTCTACAA	0.617																																					Colon(105;1478 1543 4034 6132 38638)	dbGAP											0													51.0	55.0	54.0					19																	40480526		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.565G>A	19.37:g.40480526G>A	ENSP00000157812:p.Glu189Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E189K	ENST00000157812.2	37	c.565	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181762	0.57800	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95035	-3.59;-3.59	5.28	5.28	0.74379	.	0.049784	0.85682	D	0.000000	D	0.92509	0.7621	M	0.62209	1.925	0.80722	D	1	P;P	0.45531	0.851;0.86	B;B	0.36464	0.225;0.123	D	0.93699	0.7014	10	0.87932	D	0	-5.8207	16.4	0.83637	0.0:0.0:1.0:0.0	.	158;189	P43686-2;P43686	.;PRS6B_HUMAN	K	189;158	ENSP00000157812:E189K;ENSP00000413869:E158K	ENSP00000157812:E189K	E	+	1	0	PSMC4	45172366	1.000000	0.71417	0.128000	0.21923	0.367000	0.29736	7.716000	0.84723	2.454000	0.82982	0.561000	0.74099	GAG	PSMC4	-	tigrfam_26S_Psome_P45	ENSG00000013275		0.617	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	76	0.00	0	G	NM_006503		40480526	40480526	+1	no_errors	ENST00000157812	ensembl	human	known	69_37n	missense	75	10.59	9	SNP	1.000	A
PSMD11	5717	genome.wustl.edu	37	17	30791091	30791091	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:30791091G>A	ENST00000261712.3	+	4	606	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	Y_RNA_ENST00000365230.1_RNA|PSMD11_ENST00000457654.2_Missense_Mutation_p.E115K	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	115					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.E115*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGAGTGCATCGAATGGGCCAA	0.438																																					Ovarian(130;1038 1716 9294 11987 19279)	dbGAP											1	Substitution - Nonsense(1)	lung(1)											248.0	222.0	231.0					17																	30791091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.343G>A	17.37:g.30791091G>A	ENSP00000261712:p.Glu115Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.E115K	ENST00000261712.3	37	c.343	CCDS11272.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579126	0.86645	.	.	ENSG00000108671	ENST00000261712	T	0.45276	0.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.76574	2.34	0.80722	D	1	B;B	0.22480	0.07;0.066	B;B	0.18871	0.023;0.017	T	0.43097	-0.9412	10	0.56958	D	0.05	4.3351	17.2431	0.87019	0.0:0.0:1.0:0.0	.	115;115	B4DTS5;O00231	.;PSD11_HUMAN	K	115	ENSP00000261712:E115K	ENSP00000261712:E115K	E	+	1	0	PSMD11	27815204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.204000	0.95041	2.937000	0.99478	0.650000	0.86243	GAA	PSMD11	-	NULL	ENSG00000108671		0.438	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD11	HGNC	protein_coding	OTTHUMT00000256252.2	326	0.00	0	G	NM_002815		30791091	30791091	+1	no_errors	ENST00000261712	ensembl	human	known	69_37n	missense	153	31.70	71	SNP	1.000	A
PSMD5	5711	genome.wustl.edu	37	9	123594073	123594073	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:123594073C>A	ENST00000210313.3	-	3	507				PSMD5-AS1_ENST00000589026.1_RNA|PSMD5_ENST00000373904.5_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						ACACCGATGTCTCTGCACATT	0.363																																						dbGAP											0													87.0	83.0	84.0					9																	123594073		2202	4298	6500	-	-	-	SO:0001627	intron_variant	0			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.432+36G>T	9.37:g.123594073C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZM8|Q15045|Q4VXG8	RNA	SNP	-	NULL	ENST00000210313.3	37	NULL	CCDS6824.1	9																																																																																			PSMD5	-	-	ENSG00000095261		0.363	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD5	HGNC	protein_coding	OTTHUMT00000053825.2	208	0.00	0	C	NM_005047		123594073	123594073	-1	no_errors	ENST00000471789	ensembl	human	known	69_37n	rna	247	10.51	29	SNP	0.001	A
PSMD6	9861	genome.wustl.edu	37	3	63999218	63999218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:63999218C>A	ENST00000295901.4	-	6	1032	c.892G>T	c.(892-894)Gaa>Taa	p.E298*	PSMD6_ENST00000394431.2_Nonsense_Mutation_p.E260*|PSMD6_ENST00000482510.1_Nonsense_Mutation_p.E259*|PSMD6-AS2_ENST00000472046.1_RNA|PSMD6_ENST00000492933.1_Nonsense_Mutation_p.E351*|RP11-245J9.4_ENST00000462717.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	298	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ATTCTCATTTCTCTTACATAG	0.388																																						dbGAP											0													136.0	126.0	129.0					3																	63999218		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.892G>T	3.37:g.63999218C>A	ENSP00000295901:p.Glu298*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2E0|E9PHI9|Q6UV22	Nonsense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E298*	ENST00000295901.4	37	c.892	CCDS2901.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.394240	0.98255	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.2967	20.4043	0.99006	0.0:1.0:0.0:0.0	.	.	.	.	X	298;351;260;259	.	ENSP00000295901:E298X	E	-	1	0	PSMD6	63974258	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.818000	0.86416	2.823000	0.97156	0.650000	0.86243	GAA	PSMD6	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000163636		0.388	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1	218	0.00	0	C	NM_014814		63999218	63999218	-1	no_errors	ENST00000295901	ensembl	human	known	69_37n	nonsense	162	11.96	22	SNP	1.000	A
PSMD8	5714	genome.wustl.edu	37	19	38871613	38871613	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38871613C>A	ENST00000215071.4	+	5	843	c.777C>A	c.(775-777)ttC>ttA	p.F259L	PSMD8_ENST00000602911.1_Missense_Mutation_p.F196L|PSMD8_ENST00000592035.1_Missense_Mutation_p.F92L	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	259					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACACCTTCTTCATTGACATCC	0.567																																						dbGAP											0													49.0	35.0	40.0					19																	38871613		2203	4299	6502	-	-	-	SO:0001583	missense	0			D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.777C>A	19.37:g.38871613C>A	ENSP00000215071:p.Phe259Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX18|Q6P1L7	Missense_Mutation	SNP	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.F259L	ENST00000215071.4	37	c.777	CCDS12515.2	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309918	0.81247	.	.	ENSG00000099341	ENST00000215071	.	.	.	5.56	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.65677	2.01	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.71656	0.967;0.974	T	0.68383	-0.5423	9	0.29301	T	0.29	-15.6654	12.0073	0.53268	0.0:0.9162:0.0:0.0838	.	166;259	Q5U0B3;P48556	.;PSMD8_HUMAN	L	259	.	ENSP00000215071:F259L	F	+	3	2	PSMD8	43563453	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.793000	0.38764	1.360000	0.45960	0.558000	0.71614	TTC	PSMD8	-	pfam_COP9_signalosome_subunit_CSN8,pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000099341		0.567	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD8	HGNC	protein_coding	OTTHUMT00000319627.1	141	0.70	1	C	NM_002812		38871613	38871613	+1	no_errors	ENST00000215071	ensembl	human	known	69_37n	missense	80	25.93	28	SNP	1.000	A
PSME4	23198	genome.wustl.edu	37	2	54176300	54176300	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:54176300G>A	ENST00000404125.1	-	2	418	c.363C>T	c.(361-363)cgC>cgT	p.R121R	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGATCAAAAGGCGGGCAAATC	0.353																																						dbGAP											0													102.0	101.0	102.0					2																	54176300		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.363C>T	2.37:g.54176300G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.R121	ENST00000404125.1	37	c.363	CCDS33197.2	2																																																																																			PSME4	-	NULL	ENSG00000068878		0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	188	0.00	0	G	XM_040158		54176300	54176300	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	silent	113	31.10	51	SNP	0.996	A
PTAFR	5724	genome.wustl.edu	37	1	28477476	28477476	+	Silent	SNP	C	C	T	rs576953829		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:28477476C>T	ENST00000373857.3	-	2	691	c.57G>A	c.(55-57)ccG>ccA	p.P19P	PTAFR_ENST00000305392.3_Silent_p.P19P|PTAFR_ENST00000539896.1_Silent_p.P19P	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	19					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAAACAATCGGGAAGAGAG	0.512																																						dbGAP											0													80.0	71.0	74.0					1																	28477476		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.57G>A	1.37:g.28477476C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC8|A8K2H5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_PAF_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.P19	ENST00000373857.3	37	c.57	CCDS318.1	1																																																																																			PTAFR	-	prints_PAF_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000169403		0.512	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTAFR	HGNC	protein_coding	OTTHUMT00000011258.1	156	0.64	1	C	NM_000952		28477476	28477476	-1	no_errors	ENST00000305392	ensembl	human	known	69_37n	silent	103	20.77	27	SNP	0.003	T
PTBP2	58155	genome.wustl.edu	37	1	97235334	97235334	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:97235334G>A	ENST00000426398.2	+	4	234	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	PTBP2_ENST00000370198.1_Missense_Mutation_p.R64Q|PTBP2_ENST00000370197.1_Missense_Mutation_p.R64Q|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.R75Q|PTBP2_ENST00000609116.1_Missense_Mutation_p.R64Q|PTBP2_ENST00000541987.1_Missense_Mutation_p.R33Q	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	64	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTTCATATTCGAAAATTACCT	0.353																																						dbGAP											0													120.0	129.0	126.0					1																	97235334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.191G>A	1.37:g.97235334G>A	ENSP00000412788:p.Arg64Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.R75Q	ENST00000426398.2	37	c.224	CCDS754.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.806681	0.96967	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;D	0.81659	0.43;0.45;0.45;0.44;0.45;-1.52	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.92625	0.7657	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.997;0.999;1.0;0.999;0.999	D;D;D;D;D;D;D	0.81914	0.985;0.968;0.947;0.954;0.995;0.979;0.966	D	0.93576	0.6908	10	0.87932	D	0	-2.2253	20.3736	0.98901	0.0:0.0:1.0:0.0	.	72;75;64;64;64;64;86	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	Q	64;64;64;64;75;33;54	ENSP00000236228:R64Q;ENSP00000359217:R64Q;ENSP00000359216:R64Q;ENSP00000412788:R64Q;ENSP00000377738:R75Q;ENSP00000442475:R33Q	ENSP00000236228:R64Q	R	+	2	0	PTBP2	97007922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.820000	0.97059	0.650000	0.86243	CGA	PTBP2	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000117569		0.353	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	271	0.37	1	G			97235334	97235334	+1	no_errors	ENST00000394184	ensembl	human	known	69_37n	missense	116	25.32	40	SNP	1.000	A
PTBP2	58155	genome.wustl.edu	37	1	97278384	97278384	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:97278384G>A	ENST00000426398.2	+	12	1331	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	PTBP2_ENST00000370198.1_Missense_Mutation_p.D435N|PTBP2_ENST00000370197.1_Missense_Mutation_p.D435N|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.D446N|PTBP2_ENST00000609116.1_Missense_Mutation_p.D430N|PTBP2_ENST00000541987.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	430					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GCTAACAAAAGATTTTGGTAA	0.383																																						dbGAP											0													75.0	77.0	76.0					1																	97278384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1288G>A	1.37:g.97278384G>A	ENSP00000412788:p.Asp430Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.D446N	ENST00000426398.2	37	c.1336	CCDS754.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.354109	0.95830	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.55234	0.57;0.54;0.55;0.57;0.53	5.1	5.1	0.69264	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.93898	3.47	0.80722	D	1	D;P;P;D;P;D;D	0.76494	0.999;0.946;0.946;0.968;0.955;0.995;0.989	D;D;D;D;P;D;D	0.81914	0.995;0.957;0.92;0.981;0.861;0.968;0.967	D	0.83990	0.0337	10	0.87932	D	0	-6.7401	18.8628	0.92280	0.0:0.0:1.0:0.0	.	438;446;102;435;430;430;435	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	N	430;102;435;435;430;446	ENSP00000236228:D430N;ENSP00000359217:D435N;ENSP00000359216:D435N;ENSP00000412788:D430N;ENSP00000377738:D446N	ENSP00000236228:D430N	D	+	1	0	PTBP2	97050972	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.792000	0.99085	2.520000	0.84964	0.508000	0.49915	GAT	PTBP2	-	tigrfam_HnRNP-L_PTB	ENSG00000117569		0.383	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	308	0.00	0	G			97278384	97278384	+1	no_errors	ENST00000394184	ensembl	human	known	69_37n	missense	161	19.10	38	SNP	1.000	A
PTBP3	9991	genome.wustl.edu	37	9	115024767	115024767	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115024767C>T	ENST00000374255.2	-	6	695	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	PTBP3_ENST00000374257.1_Missense_Mutation_p.R155Q|PTBP3_ENST00000458258.1_Missense_Mutation_p.R189Q|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000343327.2_Missense_Mutation_p.R88Q|PTBP3_ENST00000334318.6_Missense_Mutation_p.R186Q			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AATAATTATTCGAAGCACAGG	0.473																																						dbGAP											0													77.0	77.0	77.0					9																	115024767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.548G>A	9.37:g.115024767C>T	ENSP00000363373:p.Arg183Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.R189Q	ENST00000374255.2	37	c.566	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.346427	0.95807	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.58358	0.38;0.36;0.34;0.35;1.37	5.74	4.83	0.62350	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.066707	0.64402	D	0.000013	T	0.77260	0.4104	M	0.92459	3.31	0.58432	D	0.999997	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.996	D;D;D;D;D;D	0.75484	0.93;0.977;0.956;0.986;0.965;0.915	T	0.78899	-0.2022	10	0.33141	T	0.24	-3.2151	15.1534	0.72720	0.0:0.9311:0.0:0.0689	.	155;155;88;186;183;189	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	Q	155;186;189;183;88	ENSP00000363375:R155Q;ENSP00000334499:R186Q;ENSP00000414921:R189Q;ENSP00000363373:R183Q;ENSP00000340705:R88Q	ENSP00000334499:R186Q	R	-	2	0	ROD1	114064588	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.923000	0.63412	2.707000	0.92482	0.563000	0.77884	CGA	PTBP3	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000119314		0.473	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	89	0.00	0	C			115024767	115024767	-1	no_errors	ENST00000458258	ensembl	human	known	69_37n	missense	61	18.42	14	SNP	1.000	T
PTCD3	55037	genome.wustl.edu	37	2	86355071	86355071	+	Silent	SNP	G	G	A	rs189849692	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:86355071G>A	ENST00000254630.7	+	14	1170	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACAT	0.338													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17990	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													168.0	159.0	162.0					2																	86355071		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1104G>A	2.37:g.86355071G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	NULL	p.S368	ENST00000254630.7	37	c.1104	CCDS33235.1	2																																																																																			PTCD3	-	NULL	ENSG00000132300		0.338	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD3	HGNC	protein_coding	OTTHUMT00000329854.1	400	0.00	0	G	NM_017952		86355071	86355071	+1	no_errors	ENST00000254630	ensembl	human	known	69_37n	silent	274	25.75	95	SNP	0.753	A
PTCH1	5727	genome.wustl.edu	37	9	98218668	98218668	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:98218668C>T	ENST00000331920.6	-	19	3495	c.3196G>A	c.(3196-3198)Gag>Aag	p.E1066K	PTCH1_ENST00000429896.2_Missense_Mutation_p.E915K|PTCH1_ENST00000375274.2_Missense_Mutation_p.E1065K|PTCH1_ENST00000437951.1_Missense_Mutation_p.E1000K|PTCH1_ENST00000418258.1_Missense_Mutation_p.E915K|PTCH1_ENST00000421141.1_Missense_Mutation_p.E915K|PTCH1_ENST00000430669.2_Missense_Mutation_p.E1000K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1066					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.E1066*(2)|p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCGAACAGCTCGACCGTCATC	0.622																																						dbGAP											3	Substitution - Nonsense(2)|Deletion - In frame(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	GRCh37	CM984709	PTCH1	M							101.0	72.0	82.0					9																	98218668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3196G>A	9.37:g.98218668C>T	ENSP00000332353:p.Glu1066Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.E1066K	ENST00000331920.6	37	c.3196	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.265081	0.95399	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.61	4.71	0.59529	.	0.047583	0.85682	N	0.000000	D	0.92260	0.7545	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.963;0.991;0.966	D	0.91909	0.5538	10	0.37606	T	0.19	-28.8992	14.0492	0.64725	0.0:0.9283:0.0:0.0717	.	1000;1065;1066	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	K	1066;1000;915;915;502;1000;915;1065	ENSP00000332353:E1066K;ENSP00000389744:E1000K;ENSP00000399981:E915K;ENSP00000396135:E915K;ENSP00000410287:E1000K;ENSP00000414823:E915K;ENSP00000364423:E1065K	ENSP00000332353:E1066K	E	-	1	0	PTCH1	97258489	1.000000	0.71417	0.880000	0.34516	0.776000	0.43924	7.487000	0.81328	1.380000	0.46344	0.655000	0.94253	GAG	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.622	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	34	0.00	0	C	NM_000264		98218668	98218668	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	T
PTCH1	5727	genome.wustl.edu	37	9	98231099	98231099	+	Silent	SNP	C	C	T	rs201103723		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:98231099C>T	ENST00000331920.6	-	14	2483	c.2184G>A	c.(2182-2184)acG>acA	p.T728T	PTCH1_ENST00000429896.2_Silent_p.T577T|PTCH1_ENST00000375274.2_Silent_p.T727T|PTCH1_ENST00000437951.1_Silent_p.T662T|PTCH1_ENST00000418258.1_Silent_p.T577T|PTCH1_ENST00000421141.1_Silent_p.T577T|PTCH1_ENST00000430669.2_Silent_p.T662T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	728			T -> M (in HPE7; dbSNP:rs28936404). {ECO:0000269|PubMed:11941477, ECO:0000269|PubMed:17096318}.		brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTGTCCACTTCGTACAGGGGG	0.547																																						dbGAP											0													107.0	118.0	115.0					9																	98231099		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2184G>A	9.37:g.98231099C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.T728	ENST00000331920.6	37	c.2184	CCDS6714.1	9																																																																																			PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.547	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	153	0.00	0	C	NM_000264		98231099	98231099	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	silent	131	38.60	83	SNP	0.975	T
PTCH2	8643	genome.wustl.edu	37	1	45293786	45293786	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:45293786A>T	ENST00000372192.3	-	14	1917	c.1787T>A	c.(1786-1788)cTc>cAc	p.L596H	PTCH2_ENST00000447098.2_Missense_Mutation_p.L596H	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	596					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGTGGCAGTGAGGTGGGCAAT	0.607									Basal Cell Nevus syndrome																													dbGAP											0													85.0	90.0	89.0					1																	45293786		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1787T>A	1.37:g.45293786A>T	ENSP00000361266:p.Leu596His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L596H	ENST00000372192.3	37	c.1787	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.231350	0.39399	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.93133	-3.16;-3.17	4.85	3.65	0.41850	.	0.000000	0.37761	N	0.001957	D	0.91865	0.7425	N	0.24115	0.695	0.39636	D	0.970247	B;D	0.89917	0.098;1.0	B;D	0.69142	0.092;0.962	D	0.88649	0.3181	10	0.15066	T	0.55	-19.2957	11.2071	0.48775	0.8464:0.1536:0.0:0.0	.	596;596	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	H	596	ENSP00000389703:L596H;ENSP00000361266:L596H	ENSP00000361266:L596H	L	-	2	0	PTCH2	45066373	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	5.534000	0.67167	1.807000	0.52817	0.455000	0.32223	CTC	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.607	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	68	0.00	0	A	NM_003738		45293786	45293786	-1	no_errors	ENST00000372192	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	T
PTCHD3	374308	genome.wustl.edu	37	10	27687469	27687470	+	Frame_Shift_Ins	INS	-	-	T	rs143676774		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27687469_27687470insT	ENST00000438700.3	-	4	2174_2175	c.2057_2058insA	c.(2056-2058)aatfs	p.N686fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	686					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTACATAGACATTTTTTTCAAA	0.302																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2058dupA	10.37:g.27687476_27687476dupT	ENSP00000417658:p.Asn686fs	Somatic		WXS	Illumina GAIIx	Phase_IV	I3L499|Q6ZU28	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD	p.N686fs	ENST00000438700.3	37	c.2058_2057	CCDS31173.1	10																																																																																			PTCHD3	-	pfam_Patched	ENSG00000182077		0.302	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	57	0.00	0	-	XM_370541		27687469	27687470	-1	no_errors	ENST00000438700	ensembl	human	known	69_37n	frame_shift_ins	34	29.17	14	INS	0.000:0.000	T
PTCHD3	374308	genome.wustl.edu	37	10	27687482	27687482	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27687482A>T	ENST00000438700.3	-	4	2162	c.2045T>A	c.(2044-2046)aTt>aAt	p.I682N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	682					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTTTTCAAAAATTTTAGTACA	0.303																																						dbGAP											0													36.0	38.0	38.0					10																	27687482		2199	4294	6493	-	-	-	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2045T>A	10.37:g.27687482A>T	ENSP00000417658:p.Ile682Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.I682N	ENST00000438700.3	37	c.2045	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.414291	0.00191	.	.	ENSG00000182077	ENST00000438700	D	0.84873	-1.91	4.2	-1.79	0.07932	.	1.890920	0.02094	N	0.053332	T	0.69070	0.3070	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.57900	-0.7731	10	0.17369	T	0.5	-0.4799	6.9603	0.24593	0.2175:0.0:0.1582:0.6243	.	682	Q3KNS1	PTHD3_HUMAN	N	682	ENSP00000417658:I682N	ENSP00000417658:I682N	I	-	2	0	PTCHD3	27727488	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	0.514000	0.22786	-0.121000	0.11787	-1.795000	0.00624	ATT	PTCHD3	-	pfam_Patched	ENSG00000182077		0.303	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	62	0.00	0	A	XM_370541		27687482	27687482	-1	no_errors	ENST00000438700	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.000	T
PTCHD3	374308	genome.wustl.edu	37	10	27702556	27702556	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27702556G>A	ENST00000438700.3	-	1	741	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	208					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.F208F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GAAGCGAGACGAAATTGGCTT	0.632																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											52.0	55.0	54.0					10																	27702556		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.624C>T	10.37:g.27702556G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	I3L499|Q6ZU28	Silent	SNP	pfam_Patched,pfscan_SSD	p.F208	ENST00000438700.3	37	c.624	CCDS31173.1	10																																																																																			PTCHD3	-	pfam_Patched	ENSG00000182077		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	73	0.00	0	G	XM_370541		27702556	27702556	-1	no_errors	ENST00000438700	ensembl	human	known	69_37n	silent	27	33.33	14	SNP	0.016	A
PTDSS1	9791	genome.wustl.edu	37	8	97318695	97318695	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:97318695C>A	ENST00000517309.1	+	8	1244	c.918C>A	c.(916-918)ttC>ttA	p.F306L	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000455950.2_Missense_Mutation_p.F160L|PTDSS1_ENST00000522072.1_Missense_Mutation_p.F103L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	306					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ATACCTTCTTCTTGAAGCATA	0.398																																						dbGAP											0													191.0	178.0	183.0					8																	97318695		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.918C>A	8.37:g.97318695C>A	ENSP00000430548:p.Phe306Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.F306L	ENST00000517309.1	37	c.918	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480624	0.84747	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.58506	0.39;0.53;0.33	5.63	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.83603	2.65	0.80722	D	1	D	0.60160	0.987	D	0.67382	0.951	T	0.76961	-0.2765	10	0.66056	D	0.02	-23.8866	9.7519	0.40481	0.0:0.8312:0.0:0.1688	.	306	P48651	PTSS1_HUMAN	L	306;160;103	ENSP00000430548:F306L;ENSP00000401248:F160L;ENSP00000430928:F103L	ENSP00000401248:F160L	F	+	3	2	PTDSS1	97387871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.693000	0.61753	1.390000	0.46547	0.655000	0.94253	TTC	PTDSS1	-	pfam_PSS	ENSG00000156471		0.398	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	147	0.00	0	C			97318695	97318695	+1	no_errors	ENST00000517309	ensembl	human	known	69_37n	missense	138	36.99	81	SNP	1.000	A
PTDSS1	9791	genome.wustl.edu	37	8	97318750	97318750	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:97318750C>A	ENST00000517309.1	+	8	1299	c.973C>A	c.(973-975)Ctc>Atc	p.L325I	Y_RNA_ENST00000362862.1_RNA|PTDSS1_ENST00000455950.2_Missense_Mutation_p.L179I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.L122I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	325					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GGGTAGAATTCTCTTTATTGG	0.408																																						dbGAP											0													195.0	181.0	186.0					8																	97318750		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.973C>A	8.37:g.97318750C>A	ENSP00000430548:p.Leu325Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.L325I	ENST00000517309.1	37	c.973	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284578	0.59867	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.47177	0.9;0.9;0.85	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	N	0.13352	0.335	0.80722	D	1	P	0.38223	0.623	B	0.42882	0.401	T	0.10520	-1.0626	10	0.10902	T	0.67	-28.9805	17.8901	0.88869	0.0:1.0:0.0:0.0	.	325	P48651	PTSS1_HUMAN	I	325;179;122	ENSP00000430548:L325I;ENSP00000401248:L179I;ENSP00000430928:L122I	ENSP00000401248:L179I	L	+	1	0	PTDSS1	97387926	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.903000	0.56318	2.652000	0.90054	0.655000	0.94253	CTC	PTDSS1	-	pfam_PSS	ENSG00000156471		0.408	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	164	0.00	0	C			97318750	97318750	+1	no_errors	ENST00000517309	ensembl	human	known	69_37n	missense	105	48.02	97	SNP	1.000	A
PTER	9317	genome.wustl.edu	37	10	16547150	16547150	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:16547150G>T	ENST00000378000.1	+	5	1076	c.830G>T	c.(829-831)aGa>aTa	p.R277I	PTER_ENST00000423462.2_Intron|PTER_ENST00000535784.2_Missense_Mutation_p.R277I|PTER_ENST00000298942.3_Missense_Mutation_p.R277I	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	277					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GATAACAAAAGAATTAGAAGG	0.383																																					Ovarian(2;46 150 15648 38137 47908)	dbGAP											0													132.0	131.0	131.0					10																	16547150		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.830G>T	10.37:g.16547150G>T	ENSP00000367239:p.Arg277Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_superfamily	p.R277I	ENST00000378000.1	37	c.830	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753208	0.89753	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000378000;ENST00000298942	T;T;T	0.65178	-0.14;-0.14;-0.14	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.85474	0.5705	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89569	0.3812	10	0.87932	D	0	-24.7228	18.9747	0.92731	0.0:0.0:1.0:0.0	.	277	Q96BW5	PTER_HUMAN	I	277	ENSP00000439485:R277I;ENSP00000367239:R277I;ENSP00000298942:R277I	ENSP00000298942:R277I	R	+	2	0	PTER	16587156	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.170000	0.94795	2.569000	0.86673	0.556000	0.70494	AGA	PTER	-	pfam_Aryldialkylphosphatase	ENSG00000165983		0.383	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	142	0.00	0	G	NM_030664		16547150	16547150	+1	no_errors	ENST00000298942	ensembl	human	known	69_37n	missense	156	15.68	29	SNP	1.000	T
PTEN	5728	genome.wustl.edu	37	10	89685281	89685281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:89685281C>A	ENST00000371953.3	+	3	1533	c.176C>A	c.(175-177)tCa>tAa	p.S59*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	59	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.S59*(4)|p.Y27fs*1(2)|p.R55fs*2(1)|p.S59L(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTGGATTCAAAGCATAAA	0.254		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	59	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(6)|Substitution - Nonsense(4)|Complex - deletion inframe(1)|Substitution - Missense(1)	prostate(16)|central_nervous_system(12)|lung(7)|skin(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)	GRCh37	CM043772	PTEN	M							31.0	33.0	33.0					10																	89685281		2182	4276	6458	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.176C>A	10.37:g.89685281C>A	ENSP00000361021:p.Ser59*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S59*	ENST00000371953.3	37	c.176	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	50	16.775764	0.99871	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.4254	19.2989	0.94134	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	.	S	+	2	0	PTEN	89675261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.244000	0.78228	2.563000	0.86464	0.655000	0.94253	TCA	PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.254	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	258	0.00	0	C	NM_000314		89685281	89685281	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	nonsense	161	24.30	52	SNP	1.000	A
PTGDR	5729	genome.wustl.edu	37	14	52741596	52741596	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52741596C>T	ENST00000306051.2	+	2	1096	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	332			R -> Q (in dbSNP:rs41312506). {ECO:0000269|Ref.3}.		adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TCCAGTATTTCGGATATTTTT	0.413																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.994C>T	14.37:g.52741596C>T	ENSP00000303424:p.Arg332Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.R332W	ENST00000306051.2	37	c.994	CCDS9707.1	14	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788721	0.70337	.	.	ENSG00000168229	ENST00000306051	T	0.58358	0.34	5.2	5.2	0.72013	.	0.000000	0.43919	D	0.000514	T	0.55847	0.1946	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66081	-0.6012	10	0.87932	D	0	-20.0312	18.2013	0.89839	0.0:1.0:0.0:0.0	.	332	Q13258	PD2R_HUMAN	W	332	ENSP00000303424:R332W	ENSP00000303424:R332W	R	+	1	2	PTGDR	51811346	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	2.263000	0.43293	2.814000	0.96858	0.655000	0.94253	CGG	PTGDR	-	prints_Pglndn_D_rcpt	ENSG00000168229		0.413	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	165	0.00	0	C	NM_000953		52741596	52741596	+1	no_errors	ENST00000306051	ensembl	human	known	69_37n	missense	101	22.73	30	SNP	1.000	T
PTGER2	5732	genome.wustl.edu	37	14	52793942	52793942	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52793942T>G	ENST00000245457.5	+	2	1001	c.847T>G	c.(847-849)Ttt>Gtt	p.F283V	PTGER2_ENST00000557436.1_Missense_Mutation_p.F28V	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	283					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTTACAGATTTTTGCATATAT	0.363																																						dbGAP											0													57.0	60.0	59.0					14																	52793942		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.847T>G	14.37:g.52793942T>G	ENSP00000245457:p.Phe283Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSC0|Q52LG8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn	p.F283V	ENST00000245457.5	37	c.847	CCDS9708.1	14	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575605	0.28092	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	T;T	0.36699	1.24;1.24	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.227882	0.45606	D	0.000355	T	0.22126	0.0533	L	0.29908	0.895	0.33858	D	0.633446	P	0.38677	0.642	B	0.34418	0.182	T	0.30268	-0.9984	10	0.17369	T	0.5	-7.2653	8.6554	0.34060	0.0:0.0846:0.0:0.9154	.	283	P43116	PE2R2_HUMAN	V	28;283	ENSP00000450933:F28V;ENSP00000245457:F283V	ENSP00000245457:F283V	F	+	1	0	PTGER2	51863692	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.057000	0.41365	2.288000	0.76882	0.528000	0.53228	TTT	PTGER2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Prostglndn_EP2_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000125384		0.363	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	204	0.00	0	T			52793942	52793942	+1	no_errors	ENST00000245457	ensembl	human	known	69_37n	missense	152	25.85	53	SNP	1.000	G
PTGES3	10728	genome.wustl.edu	37	12	57066820	57066820	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57066820C>T	ENST00000262033.6	-	2	332	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	PTGES3_ENST00000414274.3_Missense_Mutation_p.R11Q|PTGES3_ENST00000448157.2_Missense_Mutation_p.R11Q|RN7SL809P_ENST00000482040.2_RNA|PTGES3_ENST00000436399.2_Missense_Mutation_p.R11Q|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000456859.2_Missense_Mutation_p.R11Q	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	11	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)			large_intestine(1)|lung(1)	2						ATAGTCCCTTCGATCGTACCA	0.353																																						dbGAP											0													64.0	58.0	60.0					12																	57066820		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.32G>A	12.37:g.57066820C>T	ENSP00000262033:p.Arg11Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	Missense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.R11Q	ENST00000262033.6	37	c.32	CCDS31836.1	12	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958958	0.92726	.	.	ENSG00000110958	ENST00000262033;ENST00000414274;ENST00000436399;ENST00000448157;ENST00000456859	T;T;T;T;T	0.33438	2.54;2.54;1.41;2.54;1.41	5.56	5.56	0.83823	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.111658	0.64402	D	0.000019	T	0.67487	0.2898	M	0.93507	3.425	0.45139	D	0.998155	D;P;D;D	0.89917	1.0;0.898;1.0;1.0	D;B;D;D	0.85130	0.978;0.269;0.99;0.997	T	0.76091	-0.3086	10	0.66056	D	0.02	.	18.297	0.90150	0.0:1.0:0.0:0.0	.	11;11;11;11	B4DP11;B4DHP2;B4DP21;Q15185	.;.;.;TEBP_HUMAN	Q	11	ENSP00000262033:R11Q;ENSP00000405299:R11Q;ENSP00000402385:R11Q;ENSP00000414892:R11Q;ENSP00000389090:R11Q	ENSP00000262033:R11Q	R	-	2	0	PTGES3	55353087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.795000	0.62489	2.624000	0.88883	0.650000	0.86243	CGA	PTGES3	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000110958		0.353	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3	HGNC	protein_coding	OTTHUMT00000408054.1	68	0.00	0	C	NM_006601		57066820	57066820	-1	no_errors	ENST00000262033	ensembl	human	known	69_37n	missense	67	11.84	9	SNP	1.000	T
PTGS2	5743	genome.wustl.edu	37	1	186645671	186645671	+	Missense_Mutation	SNP	C	C	T	rs200204426		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186645671C>T	ENST00000367468.5	-	7	1034	c.898G>A	c.(898-900)Gat>Aat	p.D300N	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	300					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TTAAGCACATCGCATACTCTG	0.463																																						dbGAP											0													153.0	144.0	147.0					1																	186645671		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.898G>A	1.37:g.186645671C>T	ENSP00000356438:p.Asp300Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K802|Q16876	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal	p.D300N	ENST00000367468.5	37	c.898	CCDS1371.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.546195	0.96488	.	.	ENSG00000073756	ENST00000367468	T	0.20881	2.04	5.51	5.51	0.81932	.	0.042915	0.85682	D	0.000000	T	0.59169	0.2174	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.964	T	0.69599	-0.5102	10	0.87932	D	0	-30.0904	19.4407	0.94820	0.0:1.0:0.0:0.0	.	300;300	Q8IZA9;P35354	.;PGH2_HUMAN	N	300	ENSP00000356438:D300N	ENSP00000356438:D300N	D	-	1	0	PTGS2	184912294	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	7.627000	0.83176	2.586000	0.87340	0.650000	0.86243	GAT	PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000073756		0.463	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	221	0.00	0	C	NM_000963		186645671	186645671	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	missense	139	11.46	18	SNP	1.000	T
PTGS2	5743	genome.wustl.edu	37	1	186648332	186648332	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186648332C>T	ENST00000367468.5	-	3	307	c.171G>A	c.(169-171)ccG>ccA	p.P57P	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	57					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TCAAAAATTCCGCTGCAAGAA	0.383																																						dbGAP											0													82.0	82.0	82.0					1																	186648332		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.170-1G>A	1.37:g.186648332C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal	p.P57	ENST00000367468.5	37	c.171	CCDS1371.1	1																																																																																			PTGS2	-	NULL	ENSG00000073756		0.383	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	156	0.00	0	C	NM_000963	Silent	186648332	186648332	-1	no_errors	ENST00000367468	ensembl	human	known	69_37n	silent	78	26.42	28	SNP	0.967	T
PTK2	5747	genome.wustl.edu	37	8	141829013	141829013	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:141829013C>A	ENST00000522684.1	-	9	984	c.755G>T	c.(754-756)aGa>aTa	p.R252I	PTK2_ENST00000340930.3_Missense_Mutation_p.R252I|PTK2_ENST00000395218.2_Missense_Mutation_p.R252I|PTK2_ENST00000535192.1_Missense_Mutation_p.R252I|PTK2_ENST00000519419.1_Missense_Mutation_p.R296I|PTK2_ENST00000517887.1_Missense_Mutation_p.R296I|PTK2_ENST00000521059.1_Missense_Mutation_p.R252I	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	252	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.R162I(1)|p.R274I(1)|p.R252I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTTATCAAATCTGTAGACTGG	0.353																																						dbGAP											3	Substitution - Missense(3)	endometrium(3)											168.0	168.0	168.0					8																	141829013		2203	4299	6502	-	-	-	SO:0001583	missense	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.755G>T	8.37:g.141829013C>A	ENSP00000429911:p.Arg252Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R252I	ENST00000522684.1	37	c.755	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.943379|4.943379	0.92593|0.92593	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000342207	.|T;T;T;T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.6|5.6	4.72|4.72	0.59763|0.59763	.|FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.|0.042711	.|0.85682	.|D	.|0.000000	T|T	0.63070|0.63070	0.2480|0.2480	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;P;D;B;D;P	.|0.76494	.|0.999;0.826;0.998;0.274;0.996;0.739	.|D;P;D;B;D;P	.|0.85130	.|0.997;0.463;0.992;0.257;0.994;0.463	T|T	0.65508|0.65508	-0.6151|-0.6151	5|10	.|0.49607	.|T	.|0.09	.|.	16.1438|16.1438	0.81548|0.81548	0.1347:0.8653:0.0:0.0|0.1347:0.8653:0.0:0.0	.|.	.|252;159;252;274;252;163	.|B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6	.|.;.;FAK1_HUMAN;.;.;.	H|I	262|252;252;296;252;162;252;159;252;296;70	.|ENSP00000429911:R252I;ENSP00000438009:R252I;ENSP00000429082:R296I;ENSP00000429474:R252I;ENSP00000378644:R252I;ENSP00000341189:R252I;ENSP00000429129:R296I	.|ENSP00000341189:R252I	Q|R	-|-	3|2	2|0	PTK2|PTK2	141898195|141898195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.183000|7.183000	0.77697|0.77697	1.490000|1.490000	0.48466|0.48466	0.655000|0.655000	0.94253|0.94253	CAG|AGA	PTK2	-	superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169398		0.353	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	913	0.00	0	C	NM_005607		141829013	141829013	-1	no_errors	ENST00000395218	ensembl	human	known	69_37n	missense	489	25.00	163	SNP	1.000	A
PTPDC1	138639	genome.wustl.edu	37	9	96857615	96857615	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:96857615C>T	ENST00000375360.3	+	6	811	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PTPDC1_ENST00000288976.3_Silent_p.F209F	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	157					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTACAATTTCGGATGGAAGG	0.348																																						dbGAP											0													155.0	154.0	155.0					9																	96857615		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.471C>T	9.37:g.96857615C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.F157	ENST00000375360.3	37	c.471	CCDS6707.1	9																																																																																			PTPDC1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat	ENSG00000158079		0.348	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	HGNC	protein_coding	OTTHUMT00000215007.1	242	0.82	2	C	NM_177995, NM_152422		96857615	96857615	+1	no_errors	ENST00000375360	ensembl	human	known	69_37n	silent	195	14.59	34	SNP	0.793	T
PTPN13	5783	genome.wustl.edu	37	4	87671825	87671825	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:87671825A>C	ENST00000411767.2	+	18	2916	c.2853A>C	c.(2851-2853)aaA>aaC	p.K951N	PTPN13_ENST00000427191.2_Missense_Mutation_p.K951N|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000511467.1_Missense_Mutation_p.K951N|PTPN13_ENST00000436978.1_Missense_Mutation_p.K951N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	951					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGTTCAAAAGAGAAGAATG	0.433																																						dbGAP											0													54.0	51.0	52.0					4																	87671825		1890	4121	6011	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2853A>C	4.37:g.87671825A>C	ENSP00000407249:p.Lys951Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K951N	ENST00000411767.2	37	c.2853	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034982	0.35893	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T	0.52295	0.67;0.7;0.67;0.7	6.16	0.919	0.19392	.	0.000000	0.53938	D	0.000042	T	0.44498	0.1296	L	0.57536	1.79	0.40441	D	0.980043	P;P;P	0.51791	0.82;0.913;0.948	B;B;P	0.47528	0.366;0.347;0.549	T	0.36672	-0.9738	10	0.20519	T	0.43	.	10.0431	0.42171	0.598:0.0:0.402:0.0	.	951;951;951	Q12923-3;Q12923;Q12923-4	.;PTN13_HUMAN;.	N	951;951;951;951;919	ENSP00000408368:K951N;ENSP00000394794:K951N;ENSP00000407249:K951N;ENSP00000426626:K951N	ENSP00000349909:K919N	K	+	3	2	PTPN13	87890849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.931000	0.28871	0.141000	0.18875	0.528000	0.53228	AAA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.433	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	124	0.00	0	A			87671825	87671825	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	0.998	C
PTPN13	5783	genome.wustl.edu	37	4	87691078	87691078	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:87691078A>G	ENST00000411767.2	+	29	4709	c.4646A>G	c.(4645-4647)gAt>gGt	p.D1549G	PTPN13_ENST00000427191.2_Missense_Mutation_p.D1530G|PTPN13_ENST00000316707.6_Missense_Mutation_p.D1358G|PTPN13_ENST00000511467.1_Missense_Mutation_p.D1554G|PTPN13_ENST00000436978.1_Missense_Mutation_p.D1554G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1549	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGAAAAATTGATGTAGGAGAT	0.413																																						dbGAP											0													148.0	146.0	147.0					4																	87691078		1890	4109	5999	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4646A>G	4.37:g.87691078A>G	ENSP00000407249:p.Asp1549Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D1554G	ENST00000411767.2	37	c.4661	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	A	14.62	2.591130	0.46214	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.74	1.93	0.25924	PDZ/DHR/GLGF (4);	0.253070	0.27223	N	0.020349	T	0.10508	0.0257	N	0.04880	-0.145	0.34195	D	0.672463	B;B;P;B	0.41673	0.001;0.202;0.759;0.321	B;B;B;B	0.37731	0.003;0.149;0.257;0.149	T	0.25572	-1.0128	10	0.39692	T	0.17	.	6.7702	0.23589	0.7376:0.1285:0.1339:0.0	.	1358;1530;1549;1554	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	G	1530;1554;1358;1549;1554;1498	ENSP00000408368:D1530G;ENSP00000394794:D1554G;ENSP00000322675:D1358G;ENSP00000407249:D1549G;ENSP00000426626:D1554G	ENSP00000322675:D1358G	D	+	2	0	PTPN13	87910102	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	3.233000	0.51311	0.107000	0.17824	-0.250000	0.11733	GAT	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000163629		0.413	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	197	0.00	0	A			87691078	87691078	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	83	34.13	43	SNP	0.990	G
PTPN13	5783	genome.wustl.edu	37	4	87691337	87691337	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:87691337T>G	ENST00000411767.2	+	30	4851	c.4788T>G	c.(4786-4788)atT>atG	p.I1596M	PTPN13_ENST00000427191.2_Missense_Mutation_p.I1577M|PTPN13_ENST00000316707.6_Missense_Mutation_p.I1405M|PTPN13_ENST00000511467.1_Missense_Mutation_p.I1601M|PTPN13_ENST00000436978.1_Missense_Mutation_p.I1601M			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1596					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACCGGAAATTGATACTGCGC	0.418																																						dbGAP											0													75.0	73.0	74.0					4																	87691337		1858	4102	5960	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4788T>G	4.37:g.87691337T>G	ENSP00000407249:p.Ile1596Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I1601M	ENST00000411767.2	37	c.4803	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	T	15.54	2.864246	0.51482	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.52526	0.66;0.68;0.74;0.66;0.68	5.74	-0.912	0.10504	PDZ/DHR/GLGF (1);	0.125909	0.35124	N	0.003426	T	0.36054	0.0953	L	0.40543	1.245	0.36211	D	0.851356	B;B;B;B	0.27068	0.063;0.097;0.102;0.167	B;B;B;B	0.32211	0.055;0.142;0.052;0.142	T	0.26815	-1.0092	10	0.23302	T	0.38	.	11.9155	0.52763	0.0:0.4381:0.0:0.5619	.	1405;1577;1596;1601	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	M	1577;1601;1405;1596;1601;1545	ENSP00000408368:I1577M;ENSP00000394794:I1601M;ENSP00000322675:I1405M;ENSP00000407249:I1596M;ENSP00000426626:I1601M	ENSP00000322675:I1405M	I	+	3	3	PTPN13	87910361	0.937000	0.31787	0.876000	0.34364	0.869000	0.49853	-0.055000	0.11807	-0.351000	0.08249	0.533000	0.62120	ATT	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ	ENSG00000163629		0.418	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	196	0.00	0	T			87691337	87691337	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	102	20.31	26	SNP	0.992	G
PTPN14	5784	genome.wustl.edu	37	1	214537857	214537857	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214537857C>T	ENST00000366956.5	-	18	3627	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1145	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGACTCACTTCGTTATGTTCC	0.542																																					Colon(92;557 1424 24372 34121 40073)	dbGAP											0													104.0	100.0	101.0					1																	214537857		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3433G>A	1.37:g.214537857C>T	ENSP00000355923:p.Glu1145Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSI0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E1145K	ENST00000366956.5	37	c.3433	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.651528	0.96714	.	.	ENSG00000152104	ENST00000366956	D	0.83419	-1.72	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.85500	0.5711	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.83970	0.0326	10	0.30078	T	0.28	.	19.3945	0.94601	0.0:1.0:0.0:0.0	.	1145	Q15678	PTN14_HUMAN	K	1145	ENSP00000355923:E1145K	ENSP00000355923:E1145K	E	-	1	0	PTPN14	212604480	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	5.936000	0.70153	2.581000	0.87130	0.655000	0.94253	GAA	PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.542	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	171	0.00	0	C	NM_005401		214537857	214537857	-1	no_errors	ENST00000366956	ensembl	human	known	69_37n	missense	123	27.91	48	SNP	1.000	T
PTPN14	5784	genome.wustl.edu	37	1	214543016	214543016	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214543016T>G	ENST00000366956.5	-	17	3249	c.3055A>C	c.(3055-3057)Agc>Cgc	p.S1019R	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1019	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TATCGGTGGCTTTTGGTTCGT	0.438																																					Colon(92;557 1424 24372 34121 40073)	dbGAP											0													187.0	176.0	180.0					1																	214543016		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3055A>C	1.37:g.214543016T>G	ENSP00000355923:p.Ser1019Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSI0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.S1019R	ENST00000366956.5	37	c.3055	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142691	0.77888	.	.	ENSG00000152104	ENST00000366956	T	0.14144	2.53	5.51	4.38	0.52667	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.083308	0.85682	D	0.000000	T	0.30792	0.0776	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01390	-1.1367	10	0.72032	D	0.01	.	11.2307	0.48910	0.0:0.0719:0.0:0.9281	.	1019	Q15678	PTN14_HUMAN	R	1019	ENSP00000355923:S1019R	ENSP00000355923:S1019R	S	-	1	0	PTPN14	212609639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.946000	0.87746	0.907000	0.36646	0.528000	0.53228	AGC	PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.438	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	213	0.00	0	T	NM_005401		214543016	214543016	-1	no_errors	ENST00000366956	ensembl	human	known	69_37n	missense	197	12.78	29	SNP	1.000	G
PTPN14	5784	genome.wustl.edu	37	1	214543024	214543024	+	Missense_Mutation	SNP	C	C	T	rs201803310		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214543024C>T	ENST00000366956.5	-	17	3241	c.3047G>A	c.(3046-3048)cGa>cAa	p.R1016Q	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1016	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.R1016Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTTTTGGTTCGTCCACCCTC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20326	0.001		0.0	False		,,,				2504	0.0				Colon(92;557 1424 24372 34121 40073)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											170.0	160.0	164.0					1																	214543024		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3047G>A	1.37:g.214543024C>T	ENSP00000355923:p.Arg1016Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSI0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.R1016Q	ENST00000366956.5	37	c.3047	CCDS1514.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.2	4.896836	0.91962	.	.	ENSG00000152104	ENST00000366956	D	0.84146	-1.81	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.41824	1.3	0.80722	D	1	D	0.89917	1.0	D	0.64144	0.922	D	0.89949	0.4078	10	0.72032	D	0.01	.	19.4235	0.94732	0.0:1.0:0.0:0.0	.	1016	Q15678	PTN14_HUMAN	Q	1016	ENSP00000355923:R1016Q	ENSP00000355923:R1016Q	R	-	2	0	PTPN14	212609647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.003000	0.70701	2.564000	0.86499	0.650000	0.86243	CGA	PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.428	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	190	0.00	0	C	NM_005401		214543024	214543024	-1	no_errors	ENST00000366956	ensembl	human	known	69_37n	missense	179	13.53	28	SNP	1.000	T
PTPN3	5774	genome.wustl.edu	37	9	112211098	112211098	+	Missense_Mutation	SNP	C	C	T	rs200472346	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:112211098C>T	ENST00000374541.2	-	6	510	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	PTPN3_ENST00000262539.3_Missense_Mutation_p.E27K|PTPN3_ENST00000412145.1_Missense_Mutation_p.E5K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E5K	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	136	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TACCTTCCTTCGCAAATATCC	0.269													C|||	2	0.000399361	0.0	0.0	5008	,	,		19327	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	62.0	62.0					9																	112211098		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.406G>A	9.37:g.112211098C>T	ENSP00000363667:p.Glu136Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin	p.E136K	ENST00000374541.2	37	c.406	CCDS6776.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	30	5.055320	0.93793	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.78	5.78	0.91487	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.093735	0.64402	D	0.000001	D	0.85843	0.5791	M	0.63428	1.95	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.987	P;D;P	0.65233	0.841;0.933;0.851	D	0.84426	0.0574	10	0.44086	T	0.13	.	18.1392	0.89633	0.0:1.0:0.0:0.0	.	27;136;136	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	K	136;5;5;136;27	ENSP00000416654:E5K;ENSP00000395384:E5K;ENSP00000363667:E136K;ENSP00000262539:E27K	ENSP00000262539:E27K	E	-	1	0	PTPN3	111250919	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.066000	0.64351	2.894000	0.99253	0.655000	0.94253	GAA	PTPN3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,prints_Band_41_fam	ENSG00000070159		0.269	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	86	0.00	0	C			112211098	112211098	-1	no_errors	ENST00000374541	ensembl	human	known	69_37n	missense	71	12.35	10	SNP	1.000	T
PTPN5	84867	genome.wustl.edu	37	11	18751371	18751371	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18751371G>A	ENST00000358540.2	-	13	1760				RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Intron|PTPN5_ENST00000396166.3_Nonsense_Mutation_p.R48*|PTPN5_ENST00000396170.1_Intron|PTPN5_ENST00000477854.1_Intron|PTPN5_ENST00000396171.4_Intron|PTPN5_ENST00000396168.1_Intron	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCACTCTGTCGAGGAGACAGA	0.577																																						dbGAP											0													37.0	46.0	43.0					11																	18751371		2175	4276	6451	-	-	-	SO:0001627	intron_variant	0			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1330-6C>T	11.37:g.18751371G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R48*	ENST00000358540.2	37	c.142	CCDS7845.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.679373	0.98912	.	.	ENSG00000110786	ENST00000396166	.	.	.	4.13	-0.582	0.11709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7289	0.28775	0.6145:0.2525:0.133:0.0	.	.	.	.	X	48	.	.	R	-	1	2	PTPN5	18707947	0.000000	0.05858	0.584000	0.28653	0.774000	0.43823	-0.288000	0.08377	0.053000	0.16036	-0.254000	0.11334	CGA	PTPN5	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000110786		0.577	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2	81	0.00	0	G	NM_001039970		18751371	18751371	-1	no_errors	ENST00000396166	ensembl	human	putative	69_37n	nonsense	33	31.25	15	SNP	0.001	A
PTPRB	5787	genome.wustl.edu	37	12	70964877	70964877	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:70964877C>T	ENST00000261266.5	-	11	2674	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	PTPRB_ENST00000451516.2_Missense_Mutation_p.R792H|PTPRB_ENST00000551525.1_Missense_Mutation_p.R1099H|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1100H|PTPRB_ENST00000538708.1_Missense_Mutation_p.R882H|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1012H|PTPRB_ENST00000550857.1_Missense_Mutation_p.R792H	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	882	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTATTGGCGGCCTGGTGT	0.433																																						dbGAP											0													76.0	72.0	73.0					12																	70964877		1915	4134	6049	-	-	-	SO:0001583	missense	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2645G>A	12.37:g.70964877C>T	ENSP00000261266:p.Arg882His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R1100H	ENST00000261266.5	37	c.3299	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986324	0.93044	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.62154	1.92	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.916;1.0;1.0;1.0	T	0.73052	-0.4104	10	0.46703	T	0.11	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	792;882;979;1099;1100;882;1012	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	H	1100;792;1012;882;792;882;1099;979	ENSP00000334928:R1100H;ENSP00000393028:R792H;ENSP00000448058:R1012H;ENSP00000438927:R882H;ENSP00000447302:R792H;ENSP00000261266:R882H;ENSP00000448349:R1099H;ENSP00000446982:R979H	ENSP00000261266:R882H	R	-	2	0	PTPRB	69251144	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.456000	0.80751	2.788000	0.95919	0.650000	0.86243	CGC	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000127329		0.433	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	196	0.00	0	C			70964877	70964877	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	missense	207	16.13	40	SNP	1.000	T
PTPRC	5788	genome.wustl.edu	37	1	198677334	198677334	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:198677334A>C	ENST00000367376.2	+	10	1142	c.971A>C	c.(970-972)aAa>aCa	p.K324T	PTPRC_ENST00000442510.2_Missense_Mutation_p.K326T|PTPRC_ENST00000348564.6_Missense_Mutation_p.K165T|PTPRC_ENST00000352140.3_Missense_Mutation_p.K276T|PTPRC_ENST00000594404.1_Missense_Mutation_p.K163T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	324					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAAAATGGAAAAATATTGAA	0.303																																						dbGAP											0													58.0	60.0	59.0					1																	198677334		2202	4295	6497	-	-	-	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.971A>C	1.37:g.198677334A>C	ENSP00000356346:p.Lys324Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K326T	ENST00000367376.2	37	c.977		1	.	.	.	.	.	.	.	.	.	.	A	8.115	0.779694	0.16120	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T;T;T;T;T	0.12255	4.22;2.7;4.23;3.66;4.21	5.01	1.13	0.20643	.	1.989540	0.02385	N	0.079102	T	0.09686	0.0238	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.20459	0.045;0.026;0.001;0.0;0.0	B;B;B;B;B	0.20184	0.028;0.012;0.004;0.003;0.002	T	0.28459	-1.0043	9	.	.	.	.	1.555	0.02583	0.5502:0.1809:0.095:0.1739	.	260;260;165;276;324	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	T	326;260;276;276;210;324;258;163	ENSP00000193532:K276T;ENSP00000433536:K210T;ENSP00000411355:K324T;ENSP00000356337:K258T;ENSP00000306782:K163T	.	K	+	2	0	PTPRC	196943957	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.707000	0.05041	0.444000	0.26612	0.533000	0.62120	AAA	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.303	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		201	0.00	0	A			198677334	198677334	+1	no_errors	ENST00000367376	ensembl	human	known	69_37n	missense	207	10.00	23	SNP	0.000	C
PTPRD	5789	genome.wustl.edu	37	9	8486198	8486198	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:8486198G>T	ENST00000381196.4	-	25	3162	c.2619C>A	c.(2617-2619)ttC>ttA	p.F873L	PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.F851L|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.F873L|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.F873L|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.F860L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	873	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTTTTTCAGAGAACTCAAGAG	0.483										TSP Lung(15;0.13)																												dbGAP											0													86.0	85.0	85.0					9																	8486198		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2619C>A	9.37:g.8486198G>T	ENSP00000370593:p.Phe873Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.F873L	ENST00000381196.4	37	c.2619	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234788	0.22626	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.78	2.94	0.34122	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.39692	1.235	0.51012	D	0.9999	B;B;B	0.28667	0.088;0.219;0.01	B;B;B	0.29176	0.099;0.054;0.034	T	0.13575	-1.0504	9	.	.	.	.	9.0147	0.36161	0.3437:0.0:0.6563:0.0	.	860;873;873	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	L	873;873;860;851;873	ENSP00000370593:F873L;ENSP00000348812:F873L;ENSP00000353187:F860L;ENSP00000351293:F851L;ENSP00000438164:F873L	.	F	-	3	2	PTPRD	8476198	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.518000	0.45537	0.807000	0.34208	0.655000	0.94253	TTC	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	160	0.00	0	G			8486198	8486198	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	125	14.38	21	SNP	1.000	T
PTPRE	5791	genome.wustl.edu	37	10	129881271	129881271	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:129881271C>A	ENST00000254667.3	+	0	2483				PTPRE_ENST00000306042.5_3'UTR|PTPRE_ENST00000419012.2_Intron	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E						negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TCCCTAATTTCTTTGTATATA	0.234																																					Colon(52;977 1184 20575 41685)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.*101C>A	10.37:g.129881271C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	RNA	SNP	-	NULL	ENST00000254667.3	37	NULL	CCDS7657.1	10																																																																																			PTPRE	-	-	ENSG00000132334		0.234	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	10	0.00	0	C			129881271	129881271	+1	no_errors	ENST00000479896	ensembl	human	known	69_37n	rna	10	28.57	4	SNP	0.461	A
PTPRK	5796	genome.wustl.edu	37	6	128291387	128291387	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:128291387G>A	ENST00000368215.3	-	30	4304	c.4305C>T	c.(4303-4305)taC>taT	p.Y1435Y	PTPRK_ENST00000368210.3_Silent_p.Y1454Y|PTPRK_ENST00000368226.4_Silent_p.Y1436Y|PTPRK_ENST00000368207.3_Silent_p.Y1468Y|PTPRK_ENST00000368213.5_Silent_p.Y1442Y|PTPRK_ENST00000532331.1_Silent_p.Y1458Y|PTPRK_ENST00000368227.3_Silent_p.Y1453Y			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1435	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGATTCCAGGTACTCCAAAG	0.398																																						dbGAP											0													114.0	99.0	104.0					6																	128291387		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4305C>T	6.37:g.128291387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.Y1453	ENST00000368215.3	37	c.4359		6																																																																																			PTPRK	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152894		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	189	0.00	0	G			128291387	128291387	-1	no_errors	ENST00000368227	ensembl	human	known	69_37n	silent	96	10.28	11	SNP	1.000	A
PTPRK	5796	genome.wustl.edu	37	6	128505866	128505866	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:128505866C>T	ENST00000368215.3	-	7	872	c.873G>A	c.(871-873)ccG>ccA	p.P291P	PTPRK_ENST00000368210.3_Silent_p.P291P|PTPRK_ENST00000368226.4_Silent_p.P291P|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.P291P|PTPRK_ENST00000368213.5_Silent_p.P291P|PTPRK_ENST00000532331.1_Silent_p.P291P|PTPRK_ENST00000368227.3_Silent_p.P291P			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	291					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGGTCTTGGCGGTTCTAGGA	0.398																																						dbGAP											0													59.0	56.0	57.0					6																	128505866		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.873G>A	6.37:g.128505866C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_MAM_dom,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_MAM_dom	p.R108H	ENST00000368215.3	37	c.323		6	.	.	.	.	.	.	.	.	.	.	C	7.057	0.565626	0.13560	.	.	ENSG00000152894	ENST00000490332	.	.	.	5.51	0.00339	0.14054	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19321	-1.0309	4	.	.	.	.	1.7943	0.03058	0.4773:0.1332:0.1048:0.2847	.	.	.	.	H	108	.	.	R	-	2	0	PTPRK	128547559	0.000000	0.05858	0.996000	0.52242	0.855000	0.48748	-2.078000	0.01370	-0.225000	0.09913	-2.049000	0.00408	CGC	PTPRK	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152894		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	57	0.00	0	C			128505866	128505866	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000490332	ensembl	human	novel	69_37n	missense	35	20.00	9	SNP	0.792	T
PTPRM	5797	genome.wustl.edu	37	18	8085708	8085708	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:8085708G>T	ENST00000332175.8	+	10	2628	c.1591G>T	c.(1591-1593)Gat>Tat	p.D531Y	PTPRM_ENST00000400053.4_Missense_Mutation_p.D469Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.D318Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.D531Y|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.D531Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	531	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CCCAGAAATAGATTTATCCAA	0.403																																						dbGAP											0													91.0	87.0	89.0					18																	8085708		2203	4299	6502	-	-	-	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1591G>T	18.37:g.8085708G>T	ENSP00000331418:p.Asp531Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D531Y	ENST00000332175.8	37	c.1591	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988392	0.74589	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.53857	0.92;0.92;0.74;0.6	5.86	5.86	0.93980	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	L	0.58428	1.81	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.76071	0.97;0.987;0.987	T	0.71656	-0.4527	10	0.72032	D	0.01	.	20.1986	0.98248	0.0:0.0:1.0:0.0	.	318;531;531	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	531;531;469;318	ENSP00000331418:D531Y;ENSP00000382933:D531Y;ENSP00000382927:D469Y;ENSP00000387608:D318Y	ENSP00000331418:D531Y	D	+	1	0	PTPRM	8075708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.706000	0.74649	2.781000	0.95711	0.650000	0.86243	GAT	PTPRM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173482		0.403	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	167	0.00	0	G			8085708	8085708	+1	no_errors	ENST00000400060	ensembl	human	known	69_37n	missense	100	20.00	25	SNP	1.000	T
PTPRO	5800	genome.wustl.edu	37	12	15656883	15656883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:15656883G>T	ENST00000281171.4	+	6	1477	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E383*|PTPRO_ENST00000543886.1_Nonsense_Mutation_p.E383*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	383	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGAAGCACATGAATTTGTTGC	0.368																																						dbGAP											0													67.0	66.0	66.0					12																	15656883		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1147G>T	12.37:g.15656883G>T	ENSP00000281171:p.Glu383*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E383*	ENST00000281171.4	37	c.1147	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.891233	0.97912	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	.	.	.	4.77	4.77	0.60923	.	0.117207	0.38381	N	0.001704	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	12.244	0.54560	0.0895:0.0:0.9105:0.0	.	.	.	.	X	383	.	ENSP00000281171:E383X	E	+	1	0	PTPRO	15548150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.555000	0.73928	2.627000	0.88993	0.655000	0.94253	GAA	PTPRO	-	NULL	ENSG00000151490		0.368	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	178	0.00	0	G			15656883	15656883	+1	no_errors	ENST00000281171	ensembl	human	known	69_37n	nonsense	107	11.57	14	SNP	1.000	T
PTPRO	5800	genome.wustl.edu	37	12	15704514	15704514	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:15704514A>C	ENST00000281171.4	+	15	2797	c.2467A>C	c.(2467-2469)Atc>Ctc	p.I823L	PTPRO_ENST00000348962.2_Missense_Mutation_p.I823L|PTPRO_ENST00000442921.2_Missense_Mutation_p.I12L|PTPRO_ENST00000445537.2_Missense_Mutation_p.I12L|PTPRO_ENST00000542557.1_Missense_Mutation_p.I12L|PTPRO_ENST00000544244.1_Missense_Mutation_p.I12L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	823					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTGGTAGTGATCTCCGTGCT	0.398																																						dbGAP											0													277.0	244.0	255.0					12																	15704514		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2467A>C	12.37:g.15704514A>C	ENSP00000281171:p.Ile823Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.I823L	ENST00000281171.4	37	c.2467	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	A	19.59	3.857028	0.71834	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.05447	3.44;3.67;3.61;3.72;3.61;3.72	5.2	5.2	0.72013	.	0.000000	0.49916	D	0.000138	T	0.12050	0.0293	N	0.24115	0.695	0.44373	D	0.997279	P;P;P	0.48016	0.904;0.782;0.675	P;B;B	0.58873	0.847;0.255;0.13	T	0.21177	-1.0253	10	0.35671	T	0.21	.	15.2256	0.73348	1.0:0.0:0.0:0.0	.	12;823;823	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	L	823;823;12;12;12;12	ENSP00000281171:I823L;ENSP00000343434:I823L;ENSP00000404188:I12L;ENSP00000437571:I12L;ENSP00000393449:I12L;ENSP00000439234:I12L	ENSP00000281171:I823L	I	+	1	0	PTPRO	15595781	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	8.110000	0.89562	2.175000	0.68902	0.460000	0.39030	ATC	PTPRO	-	NULL	ENSG00000151490		0.398	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	532	0.00	0	A			15704514	15704514	+1	no_errors	ENST00000281171	ensembl	human	known	69_37n	missense	364	11.00	45	SNP	1.000	C
PTPRQ	374462	genome.wustl.edu	37	12	80889144	80889144	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:80889144A>G	ENST00000266688.5	+	17	1864	c.1864A>G	c.(1864-1866)Ata>Gta	p.I622V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	668	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CAGCTTTCTCATAACAGGTAG	0.338																																						dbGAP											0													101.0	86.0	91.0					12																	80889144		692	1588	2280	-	-	-	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1864A>G	12.37:g.80889144A>G	ENSP00000266688:p.Ile622Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I622V	ENST00000266688.5	37	c.1864		12	.	.	.	.	.	.	.	.	.	.	A	13.64	2.297721	0.40694	.	.	ENSG00000139304	ENST00000266688	T	0.53857	0.6	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48519	0.1504	.	.	.	0.34557	D	0.711975	P	0.41008	0.735	P	0.46510	0.519	T	0.54510	-0.8283	8	0.13108	T	0.6	.	13.1601	0.59540	0.8672:0.1328:0.0:0.0	.	668	Q9UMZ3	PTPRQ_HUMAN	V	622	ENSP00000266688:I622V	ENSP00000266688:I622V	I	+	1	0	PTPRQ	79413275	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.926000	0.56491	2.216000	0.71823	0.377000	0.23210	ATA	PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.338	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		99	0.00	0	A	NM_001145026		80889144	80889144	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	1.000	G
PTPRQ	374462	genome.wustl.edu	37	12	80889852	80889852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:80889852G>T	ENST00000266688.5	+	18	1945	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	695	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TTTGTCTGAAGAAAATGACAT	0.348																																						dbGAP											0													116.0	107.0	110.0					12																	80889852		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1945G>T	12.37:g.80889852G>T	ENSP00000266688:p.Glu649*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E649*	ENST00000266688.5	37	c.1945		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.143687|7.143687	0.98092|0.98092	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000266688|ENST00000532722	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|.	.|.	.|.	.|.	.|T	.|0.65048	.|0.2654	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69172	.|-0.5215	.|3	0.14656|.	T|.	0.56|.	.|.	13.5312|13.5312	0.61623|0.61623	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|.	.|.	.|.	X|N	649|349	.|.	ENSP00000266688:E649X|.	E|K	+|+	1|3	0|2	PTPRQ|PTPRQ	79413983|79413983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.002000|5.002000	0.63952|0.63952	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAA|AAG	PTPRQ	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.348	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		130	0.00	0	G	NM_001145026		80889852	80889852	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	nonsense	75	19.35	18	SNP	1.000	T
PTPRQ	374462	genome.wustl.edu	37	12	80889858	80889858	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:80889858G>T	ENST00000266688.5	+	18	1951	c.1951G>T	c.(1951-1953)Gac>Tac	p.D651Y				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	697	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TGAAGAAAATGACATCTTTGT	0.353																																						dbGAP											0													120.0	111.0	113.0					12																	80889858		692	1591	2283	-	-	-	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.1951G>T	12.37:g.80889858G>T	ENSP00000266688:p.Asp651Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D651Y	ENST00000266688.5	37	c.1951		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.69|13.69	2.313189|2.313189	0.40895|0.40895	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000266688|ENST00000532722	T|.	0.37584|.	1.19|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.77054|0.77054	0.4074|0.4074	.|.	.|.	.|.	0.48395|0.48395	D|D	0.999646|0.999646	P|.	0.49696|.	0.927|.	P|.	0.51945|.	0.685|.	T|T	0.73965|0.73965	-0.3816|-0.3816	8|4	0.56958|.	D|.	0.05|.	.|.	20.3539|20.3539	0.98825|0.98825	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	697|.	Q9UMZ3|.	PTPRQ_HUMAN|.	Y|I	651|351	ENSP00000266688:D651Y|.	ENSP00000266688:D651Y|.	D|M	+|+	1|3	0|0	PTPRQ|PTPRQ	79413989|79413989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	5.674000|5.674000	0.68117|0.68117	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAC|ATG	PTPRQ	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.353	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		132	0.00	0	G	NM_001145026		80889858	80889858	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	missense	67	27.96	26	SNP	1.000	T
PTPRQ	374462	genome.wustl.edu	37	12	81014037	81014037	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:81014037A>C	ENST00000266688.5	+	37	5482	c.5482A>C	c.(5482-5484)Aag>Cag	p.K1828Q				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1874					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TACAGAAGGAAAGACAAAGTT	0.368																																						dbGAP											0													152.0	119.0	129.0					12																	81014037		692	1590	2282	-	-	-	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.5482A>C	12.37:g.81014037A>C	ENSP00000266688:p.Lys1828Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K1828Q	ENST00000266688.5	37	c.5482		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.638674|2.638674	0.47153|0.47153	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|T	.|0.38077	.|1.16	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|.	.|.	.|.	.|.	T|T	0.26159|0.26159	0.0638|0.0638	.|.	.|.	.|.	0.31547|0.31547	N|N	0.659232|0.659232	.|B	.|0.21821	.|0.061	.|B	.|0.21360	.|0.034	T|T	0.17410|0.17410	-1.0370|-1.0370	4|8	.|0.20519	.|T	.|0.43	.|.	14.0918|14.0918	0.64995|0.64995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1874	.|Q9UMZ3	.|PTPRQ_HUMAN	D|Q	1528|1828	.|ENSP00000266688:K1828Q	.|ENSP00000266688:K1828Q	E|K	+|+	3|1	2|0	PTPRQ|PTPRQ	79538168|79538168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	5.252000|5.252000	0.65445|0.65445	2.129000|2.129000	0.65627|0.65627	0.454000|0.454000	0.30748|0.30748	GAA|AAG	PTPRQ	-	NULL	ENSG00000139304		0.368	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		157	0.00	0	A	NM_001145026		81014037	81014037	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	missense	112	28.03	44	SNP	1.000	C
PTPRQ	374462	genome.wustl.edu	37	12	81064144	81064144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:81064144C>T	ENST00000266688.5	+	47	6463	c.6463C>T	c.(6463-6465)Cga>Tga	p.R2155*				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	2192	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CATGACTGTTCGACAGTGTAA	0.453																																						dbGAP											0													150.0	126.0	134.0					12																	81064144		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.6463C>T	12.37:g.81064144C>T	ENSP00000266688:p.Arg2155*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R2155*	ENST00000266688.5	37	c.6463		12	.	.	.	.	.	.	.	.	.	.	C	44	10.826609	0.99474	.	.	ENSG00000139304	ENST00000266688	.	.	.	5.8	1.74	0.24563	.	0.531664	0.13976	N	0.349834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5551	0.84482	0.5514:0.4486:0.0:0.0	.	.	.	.	X	2155	.	ENSP00000266688:R2155X	R	+	1	2	PTPRQ	79588275	0.339000	0.24784	0.535000	0.28026	0.890000	0.51754	1.231000	0.32624	0.035000	0.15519	0.563000	0.77884	CGA	PTPRQ	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000139304		0.453	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		237	0.00	0	C	NM_001145026		81064144	81064144	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	nonsense	182	12.08	25	SNP	0.085	T
PTPRT	11122	genome.wustl.edu	37	20	40714431	40714431	+	Silent	SNP	G	G	A	rs34623060		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:40714431G>A	ENST00000373187.1	-	28	3908	c.3909C>T	c.(3907-3909)ttC>ttT	p.F1303F	PTPRT_ENST00000373201.1_Silent_p.F1293F|PTPRT_ENST00000356100.2_Silent_p.F1312F|PTPRT_ENST00000373190.1_Silent_p.F1302F|PTPRT_ENST00000373193.3_Silent_p.F1306F|PTPRT_ENST00000373184.1_Silent_p.F1313F|PTPRT_ENST00000373198.4_Silent_p.F1322F			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1303	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGCGGAGACGAACTCCACCT	0.552																																						dbGAP											0													84.0	87.0	86.0					20																	40714431		1963	4150	6113	-	-	-	SO:0001819	synonymous_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3909C>T	20.37:g.40714431G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.F1325	ENST00000373187.1	37	c.3975	CCDS42874.1	20																																																																																			PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.552	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	92	0.00	0	G			40714431	40714431	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	silent	63	10.00	7	SNP	0.214	A
PTPRT	11122	genome.wustl.edu	37	20	40770576	40770576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:40770576G>A	ENST00000373187.1	-	18	2748	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R907*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R926*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R916*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R920*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R907*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R936*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	917	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCCCATATCGATTCTTATTG	0.488																																						dbGAP											0													244.0	240.0	241.0					20																	40770576		1931	4135	6066	-	-	-	SO:0001587	stop_gained	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2749C>T	20.37:g.40770576G>A	ENSP00000362283:p.Arg917*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R939*	ENST00000373187.1	37	c.2815	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	43	9.912489	0.99294	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7267	0.51714	0.0:0.0:0.7183:0.2817	.	.	.	.	X	916;917;920;926;939;907;907	.	ENSP00000348408:R926X	R	-	1	2	PTPRT	40203990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.982000	0.63825	2.613000	0.88420	0.650000	0.86243	CGA	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.488	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	364	0.00	0	G			40770576	40770576	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	nonsense	219	10.93	27	SNP	1.000	A
PTPRT	11122	genome.wustl.edu	37	20	41385109	41385109	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:41385109G>A	ENST00000373187.1	-	6	851	c.852C>T	c.(850-852)atC>atT	p.I284I	PTPRT_ENST00000373201.1_Silent_p.I284I|PTPRT_ENST00000356100.2_Silent_p.I284I|PTPRT_ENST00000373190.1_Silent_p.I284I|PTPRT_ENST00000373193.3_Silent_p.I284I|PTPRT_ENST00000373184.1_Silent_p.I284I|PTPRT_ENST00000373198.4_Silent_p.I284I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	284	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCTTTCACGATCAGCTCCG	0.577																																						dbGAP											0													53.0	53.0	53.0					20																	41385109		2139	4244	6383	-	-	-	SO:0001819	synonymous_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.852C>T	20.37:g.41385109G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I284	ENST00000373187.1	37	c.852	CCDS42874.1	20																																																																																			PTPRT	-	pfscan_Ig-like	ENSG00000196090		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	126	0.00	0	G			41385109	41385109	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	silent	78	12.36	11	SNP	0.133	A
PTPRU	10076	genome.wustl.edu	37	1	29637972	29637972	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:29637972G>A	ENST00000345512.3	+	21	3021	c.2892G>A	c.(2890-2892)ccG>ccA	p.P964P	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.P954P|PTPRU_ENST00000356870.3_Silent_p.P960P|PTPRU_ENST00000460170.2_Silent_p.P960P|PTPRU_ENST00000323874.8_Silent_p.P960P|PTPRU_ENST00000373779.3_Silent_p.P954P	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	964	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCCAGGGCCGAAGCCTGAGA	0.612																																						dbGAP											0													108.0	88.0	94.0					1																	29637972		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2892G>A	1.37:g.29637972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P964	ENST00000345512.3	37	c.2892	CCDS334.1	1																																																																																			PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000060656		0.612	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	132	0.75	1	G			29637972	29637972	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	silent	68	20.93	18	SNP	0.896	A
PTPRU	10076	genome.wustl.edu	37	1	29642617	29642617	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:29642617G>A	ENST00000345512.3	+	25	3626	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	PTPRU_ENST00000428026.2_Missense_Mutation_p.R1153H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R1162H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1162H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1162H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1156H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1166					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1166H(2)|p.R1162H(2)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAGATGATCCGCATTGATCCT	0.527																																						dbGAP											4	Substitution - Missense(4)	endometrium(3)|large_intestine(1)											146.0	108.0	120.0					1																	29642617		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3497G>A	1.37:g.29642617G>A	ENSP00000334941:p.Arg1166His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R1166H	ENST00000345512.3	37	c.3497	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425034	0.83667	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52	4.51	4.51	0.55191	.	0.076076	0.52532	D	0.000079	T	0.29288	0.0729	M	0.75264	2.295	0.45066	D	0.998085	D;D;D;D;D	0.64830	0.994;0.994;0.994;0.99;0.99	P;P;P;P;P	0.57846	0.828;0.828;0.828;0.677;0.677	T	0.01030	-1.1475	9	.	.	.	.	10.3953	0.44196	0.0899:0.0:0.9101:0.0	.	1153;1162;1156;1162;1166	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	1166;1156;1162;1162;1153;1162	ENSP00000334941:R1166H;ENSP00000362884:R1156H;ENSP00000349333:R1162H;ENSP00000314987:R1162H;ENSP00000392332:R1153H;ENSP00000432906:R1162H	.	R	+	2	0	PTPRU	29515204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.603000	0.67619	2.498000	0.84270	0.561000	0.74099	CGC	PTPRU	-	NULL	ENSG00000060656		0.527	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	130	0.00	0	G			29642617	29642617	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	42	34.33	23	SNP	1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121651597	121651597	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:121651597C>T	ENST00000393386.2	+	12	2908	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	833					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATTGTTTCGCCATCTGCA	0.468																																						dbGAP											0													194.0	165.0	175.0					7																	121651597		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2497C>T	7.37:g.121651597C>T	ENSP00000377047:p.Arg833Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.R833C	ENST00000393386.2	37	c.2497	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658062	0.67586	.	.	ENSG00000106278	ENST00000393386	T	0.47528	0.84	5.86	5.86	0.93980	.	0.623886	0.15868	N	0.240700	T	0.47655	0.1457	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	B	0.43623	0.425	T	0.53344	-0.8452	10	0.87932	D	0	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	833	P23471	PTPRZ_HUMAN	C	833	ENSP00000377047:R833C	ENSP00000377047:R833C	R	+	1	0	PTPRZ1	121438833	0.994000	0.37717	0.995000	0.50966	0.985000	0.73830	3.009000	0.49552	2.774000	0.95407	0.650000	0.86243	CGC	PTPRZ1	-	NULL	ENSG00000106278		0.468	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	167	0.00	0	C	NM_002851		121651597	121651597	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	76	30.00	33	SNP	1.000	T
PTPRZ1	5803	genome.wustl.edu	37	7	121691555	121691555	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:121691555G>A	ENST00000393386.2	+	24	6569	c.6158G>A	c.(6157-6159)cGa>cAa	p.R2053Q	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1186Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2053	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAAAAGAATCGAACTTCTTCT	0.348																																						dbGAP											0													90.0	90.0	90.0					7																	121691555		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6158G>A	7.37:g.121691555G>A	ENSP00000377047:p.Arg2053Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.R2053Q	ENST00000393386.2	37	c.6158	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.467051	0.96257	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.34072	1.38;1.38	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.79436	-0.1804	10	0.87932	D	0	.	19.743	0.96238	0.0:0.0:1.0:0.0	.	1192;1186;2053	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Q	2053;1186	ENSP00000377047:R2053Q;ENSP00000410000:R1186Q	ENSP00000377047:R2053Q	R	+	2	0	PTPRZ1	121478791	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.665000	0.98609	2.667000	0.90743	0.650000	0.86243	CGA	PTPRZ1	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000106278		0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	373	0.00	0	G	NM_002851		121691555	121691555	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	108	54.77	132	SNP	1.000	A
PUS10	150962	genome.wustl.edu	37	2	61189967	61189967	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61189967A>T	ENST00000316752.6	-	9	1043	c.782T>A	c.(781-783)tTc>tAc	p.F261Y	PUS10_ENST00000407787.1_Missense_Mutation_p.F261Y	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	261					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTACTTAAGGAAATCCTCTTC	0.313																																						dbGAP											0													68.0	64.0	65.0					2																	61189967		2195	4296	6491	-	-	-	SO:0001583	missense	0			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.782T>A	2.37:g.61189967A>T	ENSP00000326003:p.Phe261Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom	p.F261Y	ENST00000316752.6	37	c.782	CCDS1865.1	2	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728385	0.89390	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.46	5.46	0.80206	.	0.102325	0.64402	D	0.000002	T	0.78432	0.4282	M	0.77406	2.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.961	T	0.79142	-0.1925	9	0.42905	T	0.14	-14.0859	15.8338	0.78782	1.0:0.0:0.0:0.0	.	261;261	A8K6R4;Q3MIT2	.;PUS10_HUMAN	Y	261	.	ENSP00000326003:F261Y	F	-	2	0	PUS10	61043471	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.160000	0.89653	2.199000	0.70637	0.477000	0.44152	TTC	PUS10	-	NULL	ENSG00000162927		0.313	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	171	0.00	0	A	NM_144709		61189967	61189967	-1	no_errors	ENST00000316752	ensembl	human	known	69_37n	missense	134	22.54	39	SNP	1.000	T
PUS10	150962	genome.wustl.edu	37	2	61192232	61192232	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61192232C>T	ENST00000316752.6	-	8	945	c.684G>A	c.(682-684)gcG>gcA	p.A228A	PUS10_ENST00000407787.1_Silent_p.A228A	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	228					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CTGGGCATATCGCAGCTCTAA	0.323																																						dbGAP											0													82.0	87.0	86.0					2																	61192232		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.684G>A	2.37:g.61192232C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ5|Q96MI8	Silent	SNP	superfamily_PsdUridine_synth_cat_dom	p.A228	ENST00000316752.6	37	c.684	CCDS1865.1	2																																																																																			PUS10	-	NULL	ENSG00000162927		0.323	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	323	0.00	0	C	NM_144709		61192232	61192232	-1	no_errors	ENST00000316752	ensembl	human	known	69_37n	silent	166	26.87	61	SNP	0.001	T
PUS10	150962	genome.wustl.edu	37	2	61235910	61235910	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61235910C>A	ENST00000316752.6	-	3	628	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	PUS10_ENST00000407787.1_Missense_Mutation_p.D123Y	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	123					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTAATGAAATCTTTCTCACAG	0.303																																						dbGAP											0													41.0	44.0	43.0					2																	61235910		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.367G>T	2.37:g.61235910C>A	ENSP00000326003:p.Asp123Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom	p.D123Y	ENST00000316752.6	37	c.367	CCDS1865.1	2	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179366	0.38511	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.49	4.42	0.53409	.	0.696051	0.14872	N	0.293505	T	0.56863	0.2014	L	0.50333	1.59	0.34044	D	0.655395	B	0.29590	0.25	B	0.37047	0.24	T	0.68750	-0.5326	9	0.72032	D	0.01	-21.9189	12.4362	0.55600	0.0:0.9037:0.0:0.0963	.	123	Q3MIT2	PUS10_HUMAN	Y	123	.	ENSP00000326003:D123Y	D	-	1	0	PUS10	61089414	0.967000	0.33354	0.901000	0.35422	0.965000	0.64279	3.299000	0.51826	2.583000	0.87209	0.591000	0.81541	GAT	PUS10	-	NULL	ENSG00000162927		0.303	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	128	0.00	0	C	NM_144709		61235910	61235910	-1	no_errors	ENST00000316752	ensembl	human	known	69_37n	missense	60	34.07	31	SNP	0.467	A
PUS7	54517	genome.wustl.edu	37	7	105112623	105112623	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:105112623G>A	ENST00000356362.2	-	10	1407	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	PUS7_ENST00000469408.1_Missense_Mutation_p.S398F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	398	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCTGTCCAGGAATTTTGTAG	0.284																																					Colon(138;2387 3051 17860)	dbGAP											0													33.0	35.0	34.0					7																	105112623		2200	4294	6494	-	-	-	SO:0001583	missense	0			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1193C>T	7.37:g.105112623G>A	ENSP00000348722:p.Ser398Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.S398F	ENST00000356362.2	37	c.1193	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259294	0.59321	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.23348	1.91;1.91	5.63	4.74	0.60224	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.143042	0.64402	D	0.000011	T	0.17746	0.0426	N	0.19112	0.55	0.37529	D	0.917853	P;P	0.48764	0.862;0.915	P;P	0.44359	0.447;0.447	T	0.02721	-1.1119	10	0.87932	D	0	-20.917	7.3793	0.26845	0.0:0.2031:0.5395:0.2574	.	398;398	B3KY42;Q96PZ0	.;PUS7_HUMAN	F	398	ENSP00000348722:S398F;ENSP00000417402:S398F	ENSP00000348722:S398F	S	-	2	0	PUS7	104899859	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.803000	0.62546	2.676000	0.91093	0.555000	0.69702	TCC	PUS7	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	ENSG00000091127		0.284	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1	76	0.00	0	G	NM_019042		105112623	105112623	-1	no_errors	ENST00000356362	ensembl	human	known	69_37n	missense	54	20.59	14	SNP	1.000	A
PUS7L	83448	genome.wustl.edu	37	12	44124248	44124248	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:44124248G>T	ENST00000416848.2	-	9	2525	c.2037C>A	c.(2035-2037)atC>atA	p.I679I	PUS7L_ENST00000344862.5_Silent_p.I679I|PUS7L_ENST00000431332.3_Silent_p.I366I|PUS7L_ENST00000551923.1_Silent_p.I679I	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	679					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GATCAAAAGAGATCAAAAGAG	0.363																																						dbGAP											0													110.0	102.0	105.0					12																	44124248		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.2037C>A	12.37:g.44124248G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.I679	ENST00000416848.2	37	c.2037	CCDS8743.1	12																																																																																			PUS7L	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD	ENSG00000129317		0.363	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7L	HGNC	protein_coding	OTTHUMT00000403931.1	158	0.63	1	G	NM_031292		44124248	44124248	-1	no_errors	ENST00000344862	ensembl	human	known	69_37n	silent	121	21.94	34	SNP	0.044	T
PUS7L	83448	genome.wustl.edu	37	12	44139860	44139860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:44139860C>A	ENST00000416848.2	-	4	1740	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	PUS7L_ENST00000344862.5_Nonsense_Mutation_p.E418*|PUS7L_ENST00000431332.3_Nonsense_Mutation_p.E105*|PUS7L_ENST00000551923.1_Nonsense_Mutation_p.E418*	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	418					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTAACATTTTCTATTGCTTCC	0.328																																						dbGAP											0													40.0	39.0	39.0					12																	44139860		2201	4293	6494	-	-	-	SO:0001587	stop_gained	0			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1252G>T	12.37:g.44139860C>A	ENSP00000415899:p.Glu418*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Nonsense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.E418*	ENST00000416848.2	37	c.1252	CCDS8743.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.448425	0.96205	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156	.	.	.	4.58	2.73	0.32206	.	0.108385	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-21.6029	5.5414	0.17039	0.1456:0.6371:0.1406:0.0768	.	.	.	.	X	418;418;418;105;105;105	.	ENSP00000343081:E418X	E	-	1	0	PUS7L	42426127	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.990000	0.49401	0.602000	0.29896	0.655000	0.94253	GAA	PUS7L	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD	ENSG00000129317		0.328	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7L	HGNC	protein_coding	OTTHUMT00000403931.1	93	0.00	0	C	NM_031292		44139860	44139860	-1	no_errors	ENST00000344862	ensembl	human	known	69_37n	nonsense	61	19.74	15	SNP	1.000	A
PVR	5817	genome.wustl.edu	37	19	45162113	45162113	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:45162113C>A	ENST00000425690.3	+	6	1394	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L	PVR_ENST00000406449.4_Missense_Mutation_p.F365L|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Intron|PVR_ENST00000403059.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	365					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGATTTATTTCTATTGGTCCA	0.522																																						dbGAP											0													178.0	166.0	170.0					19																	45162113		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1095C>A	19.37:g.45162113C>A	ENSP00000402060:p.Phe365Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F365L	ENST00000425690.3	37	c.1095	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	C	9.779	1.174797	0.21704	.	.	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.87029	-2.2;-2.16	2.65	2.65	0.31530	.	3.094350	0.01787	U	0.032099	T	0.79964	0.4537	L	0.33485	1.01	0.23776	N	0.996878	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.0	T	0.63941	-0.6523	10	0.02654	T	1	.	8.9593	0.35838	0.0:1.0:0.0:0.0	.	365;365	P15151-4;P15151	.;PVR_HUMAN	L	365	ENSP00000402060:F365L;ENSP00000383907:F365L	ENSP00000383907:F365L	F	+	3	2	PVR	49853953	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	1.887000	0.39698	1.795000	0.52594	0.555000	0.69702	TTC	PVR	-	NULL	ENSG00000073008		0.522	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	217	0.00	0	C	NM_006505		45162113	45162113	+1	no_errors	ENST00000425690	ensembl	human	known	69_37n	missense	141	20.34	36	SNP	0.002	A
PXDNL	137902	genome.wustl.edu	37	8	52412308	52412308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:52412308C>A	ENST00000356297.4	-	5	503	c.403G>T	c.(403-405)Gaa>Taa	p.E135*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.E135*	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	135					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTAGCATTTCTAGTTGGTTG	0.378																																						dbGAP											0													159.0	154.0	155.0					8																	52412308		1841	4090	5931	-	-	-	SO:0001587	stop_gained	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.403G>T	8.37:g.52412308C>A	ENSP00000348645:p.Glu135*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like	p.E135*	ENST00000356297.4	37	c.403	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630864	0.67015	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	.	.	.	4.88	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	9.0972	0.36647	0.0:0.8975:0.0:0.1025	.	.	.	.	X	135	.	ENSP00000348645:E135X	E	-	1	0	PXDNL	52574861	0.051000	0.20477	0.036000	0.18154	0.172000	0.22775	2.170000	0.42443	1.057000	0.40506	0.650000	0.86243	GAA	PXDNL	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000147485		0.378	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	586	0.17	1	C	NM_144651		52412308	52412308	-1	no_errors	ENST00000356297	ensembl	human	known	69_37n	nonsense	419	11.58	55	SNP	0.896	A
PXK	54899	genome.wustl.edu	37	3	58351613	58351613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:58351613C>T	ENST00000356151.2	+	2	224	c.115C>T	c.(115-117)Cga>Tga	p.R39*	PXK_ENST00000479241.1_Intron|PXK_ENST00000302779.5_Intron|PXK_ENST00000484288.1_Nonsense_Mutation_p.R39*|PXK_ENST00000383715.4_Intron|PXK_ENST00000536660.1_Intron|PXK_ENST00000463280.1_Intron|PXK_ENST00000383716.3_Intron	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		ATATATTATTCGAGTGCAAAG	0.303																																						dbGAP											0													48.0	49.0	49.0					3																	58351613		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.115C>T	3.37:g.58351613C>T	ENSP00000348472:p.Arg39*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom	p.R39*	ENST00000356151.2	37	c.115	CCDS2889.1	3	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949356	0.92660	.	.	ENSG00000168297	ENST00000356151;ENST00000484288;ENST00000491164	.	.	.	5.03	5.03	0.67393	.	0.114023	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4761	16.5163	0.84301	0.0:1.0:0.0:0.0	.	.	.	.	X	39;39;30	.	ENSP00000348472:R39X	R	+	1	2	PXK	58326653	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	3.015000	0.49599	2.490000	0.84030	0.650000	0.86243	CGA	PXK	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000168297		0.303	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	196	0.00	0	C	NM_017771		58351613	58351613	+1	no_errors	ENST00000356151	ensembl	human	known	69_37n	nonsense	159	12.64	23	SNP	1.000	T
PXN	5829	genome.wustl.edu	37	12	120651738	120651738	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:120651738G>A	ENST00000228307.7	-	11	1557	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	PXN_ENST00000267257.7_Silent_p.F486F|PXN_ENST00000536957.1_Silent_p.F470F|PXN_ENST00000458477.2_Silent_p.F305F|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000424649.2_Silent_p.F438F|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000397506.3_Silent_p.F284F|PXN-AS1_ENST00000539446.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	472	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.F438F(1)|p.F472F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTTGGGTGCGAACATGTCGA	0.597																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											35.0	44.0	41.0					12																	120651738		2048	4185	6233	-	-	-	SO:0001819	synonymous_variant	0			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1416C>T	12.37:g.120651738G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.F486	ENST00000228307.7	37	c.1458	CCDS44997.1	12																																																																																			PXN	-	pfam_Znf_LIM,pfscan_Znf_LIM	ENSG00000089159		0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	59	0.00	0	G	NM_002859		120651738	120651738	-1	no_errors	ENST00000267257	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.646	A
PXMP2	5827	genome.wustl.edu	37	12	133266897	133266897	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:133266897G>T	ENST00000317479.3	+	2	236	c.171G>T	c.(169-171)aaG>aaT	p.K57N	PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|POLE_ENST00000535270.1_5'Flank|PXMP2_ENST00000428960.2_5'Flank|PXMP2_ENST00000543589.1_Missense_Mutation_p.K57N|POLE_ENST00000320574.5_5'Flank|PXMP2_ENST00000539093.1_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	57						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TGATTGAGAAGAAGCGGAAAA	0.512																																						dbGAP											0													115.0	113.0	114.0					12																	133266897		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.171G>T	12.37:g.133266897G>T	ENSP00000321271:p.Lys57Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mpv17_PMP22	p.K57N	ENST00000317479.3	37	c.171	CCDS9279.1	12	.	.	.	.	.	.	.	.	.	.	G	4.941	0.174888	0.09391	.	.	ENSG00000176894	ENST00000317479;ENST00000543589	D	0.89939	-2.59	4.92	0.804	0.18697	.	0.477989	0.24566	N	0.037433	T	0.77994	0.4214	L	0.43923	1.385	0.26827	N	0.968661	P	0.40144	0.704	B	0.33799	0.17	T	0.66578	-0.5888	10	0.17369	T	0.5	.	5.7435	0.18108	0.2524:0.0:0.6073:0.1403	.	57	Q9NR77	PXMP2_HUMAN	N	57	ENSP00000321271:K57N	ENSP00000321271:K57N	K	+	3	2	PXMP2	131776970	0.966000	0.33281	0.880000	0.34516	0.189000	0.23516	0.233000	0.17911	0.512000	0.28257	-0.355000	0.07637	AAG	PXMP2	-	NULL	ENSG00000176894		0.512	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXMP2	HGNC	protein_coding	OTTHUMT00000397553.1	173	0.00	0	G	NM_018663		133266897	133266897	+1	no_errors	ENST00000317479	ensembl	human	known	69_37n	missense	72	21.74	20	SNP	0.164	T
PYROXD2	84795	genome.wustl.edu	37	10	100152324	100152324	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:100152324C>A	ENST00000370575.4	-	10	976		c.e10-1		PYROXD2_ENST00000483923.1_Splice_Site|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2								oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						TCGCCACTGTCTAGAGCCCAC	0.517																																						dbGAP											0													138.0	102.0	114.0					10																	100152324		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.928-1G>T	10.37:g.100152324C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR61|Q5TAA9|Q9BRQ1	Splice_Site	SNP	-	e10-1	ENST00000370575.4	37	c.928-1	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658170	0.47467	.	.	ENSG00000119943	ENST00000370575	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5669	0.87922	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYROXD2	100142314	0.999000	0.42202	0.314000	0.25224	0.021000	0.10359	5.573000	0.67417	2.216000	0.71823	0.655000	0.94253	.	PYROXD2	-	-	ENSG00000119943		0.517	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	197	0.00	0	C	NM_032709	Intron	100152324	100152324	-1	no_errors	ENST00000370575	ensembl	human	known	69_37n	splice_site	188	12.56	27	SNP	0.977	A
PYROXD2	84795	genome.wustl.edu	37	10	100174831	100174831	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:100174831C>A	ENST00000370575.4	-	1	110	c.62G>T	c.(61-63)aGa>aTa	p.R21I	HPS1_ENST00000467246.1_5'Flank	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	21							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GTTATCTCGTCTCCACGCCGG	0.617																																						dbGAP											0													144.0	132.0	136.0					10																	100174831		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.62G>T	10.37:g.100174831C>A	ENSP00000359607:p.Arg21Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.R21I	ENST00000370575.4	37	c.62	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463681	0.63513	.	.	ENSG00000119943	ENST00000370575	T	0.23950	1.88	5.76	3.87	0.44632	.	0.447810	0.25677	N	0.029023	T	0.12092	0.0294	N	0.08118	0	0.37958	D	0.932881	P	0.38642	0.641	B	0.32289	0.143	T	0.17167	-1.0378	10	0.87932	D	0	.	10.8762	0.46913	0.0:0.8419:0.0:0.1581	.	21	Q8N2H3	PYRD2_HUMAN	I	21	ENSP00000359607:R21I	ENSP00000359607:R21I	R	-	2	0	PYROXD2	100164821	0.029000	0.19370	0.160000	0.22671	0.049000	0.14656	2.399000	0.44495	1.404000	0.46819	0.561000	0.74099	AGA	PYROXD2	-	NULL	ENSG00000119943		0.617	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	73	0.00	0	C	NM_032709		100174831	100174831	-1	no_errors	ENST00000370575	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	0.599	A
R3HCC1	203069	genome.wustl.edu	37	8	23150819	23150819	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:23150819G>T	ENST00000411463.1	+	7	1149	c.1149G>T	c.(1147-1149)gaG>gaT	p.E383D	R3HCC1_ENST00000265806.6_Missense_Mutation_p.E156D|R3HCC1_ENST00000518454.1_Missense_Mutation_p.E156D|R3HCC1_ENST00000522012.1_3'UTR			Q9Y3T6	R3HC1_HUMAN	R3H domain and coiled-coil containing 1	383							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			central_nervous_system(1)|skin(2)	3						CGCACAGAGAGAAGGGGTTCA	0.607																																						dbGAP											0													49.0	44.0	45.0					8																	23150819		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47826.1	8p21.3	2012-05-23		2005-11-20	ENSG00000104679	ENSG00000104679			27329	protein-coding gene	gene with protein product						12477932	Standard	XM_005273427		Approved	DKFZp564N123	uc003xdf.3	Q9Y3T6	OTTHUMG00000163786	ENST00000411463.1:c.1149G>T	8.37:g.23150819G>T	ENSP00000397555:p.Glu383Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLI1	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E383D	ENST00000411463.1	37	c.1149		8	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428547	0.43122	.	.	ENSG00000104679	ENST00000518454;ENST00000265806;ENST00000411463;ENST00000520480	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.83	4.04	0.47022	Nucleotide-binding, alpha-beta plait (1);	0.256396	0.40385	N	0.001117	T	0.14270	0.0345	L	0.35414	1.06	0.43099	D	0.994781	B	0.30664	0.289	B	0.26517	0.07	T	0.08806	-1.0704	10	0.19590	T	0.45	-22.0701	10.7037	0.45942	0.0717:0.1324:0.7959:0.0	.	383	Q9Y3T6	R3HC1_HUMAN	D	156;156;383;78	ENSP00000430607:E156D;ENSP00000265806:E156D;ENSP00000397555:E383D;ENSP00000430339:E78D	ENSP00000265806:E156D	E	+	3	2	R3HCC1	23206764	0.974000	0.33945	1.000000	0.80357	0.985000	0.73830	0.222000	0.17699	0.819000	0.34492	0.655000	0.94253	GAG	R3HCC1	-	NULL	ENSG00000104679		0.607	R3HCC1-201	KNOWN	basic|appris_principal	protein_coding	R3HCC1	HGNC	protein_coding		28	0.00	0	G	NM_001136108		23150819	23150819	+1	no_errors	ENST00000411463	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	T
RAB10	10890	genome.wustl.edu	37	2	26332657	26332657	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:26332657G>A	ENST00000264710.4	+	3	708	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	70					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAGGAGCGATTTCACACC	0.368																																						dbGAP											0													90.0	83.0	86.0					2																	26332657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.209G>A	2.37:g.26332657G>A	ENSP00000264710:p.Arg70Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R70Q	ENST00000264710.4	37	c.209	CCDS1720.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.697205	0.96802	.	.	ENSG00000084733	ENST00000264710	T	0.78364	-1.17	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.89694	0.3900	10	0.87932	D	0	.	17.9567	0.89072	0.0:0.0:1.0:0.0	.	70	P61026	RAB10_HUMAN	Q	70	ENSP00000264710:R70Q	ENSP00000264710:R70Q	R	+	2	0	RAB10	26186161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.588000	0.87417	0.585000	0.79938	CGA	RAB10	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000084733		0.368	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	122	0.00	0	G	NM_016131		26332657	26332657	+1	no_errors	ENST00000264710	ensembl	human	known	69_37n	missense	85	23.89	27	SNP	1.000	A
R3HDM1	23518	genome.wustl.edu	37	2	136374262	136374262	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:136374262C>T	ENST00000264160.4	+	5	608	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R80W|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000329971.3_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	80							poly(A) RNA binding (GO:0044822)	p.R80W(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AAAGCTAGTTCGGAGCCTTGC	0.393																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											54.0	50.0	51.0					2																	136374262		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.238C>T	2.37:g.136374262C>T	ENSP00000264160:p.Arg80Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R80W	ENST00000264160.4	37	c.238	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154337	0.78114	.	.	ENSG00000048991	ENST00000264160;ENST00000409606	T;T	0.56444	0.48;0.46	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.72894	2.215	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.50231	0.635;0.635	T	0.67133	-0.5747	10	0.87932	D	0	-11.9555	14.6469	0.68767	0.1455:0.8545:0.0:0.0	.	80;80	E9PBB4;Q15032	.;R3HD1_HUMAN	W	80	ENSP00000264160:R80W;ENSP00000387010:R80W	ENSP00000264160:R80W	R	+	1	2	R3HDM1	136090732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.023000	0.76437	2.689000	0.91719	0.585000	0.79938	CGG	R3HDM1	-	NULL	ENSG00000048991		0.393	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	119	0.00	0	C	NM_015361		136374262	136374262	+1	no_errors	ENST00000264160	ensembl	human	known	69_37n	missense	85	19.81	21	SNP	1.000	T
RAB11B	9230	genome.wustl.edu	37	19	8464850	8464850	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:8464850C>T	ENST00000328024.6	+	2	362	c.144C>T	c.(142-144)ttC>ttT	p.F48F	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Silent_p.F48F	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	48					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GCGTGGAGTTCGCCACCCGCA	0.647																																						dbGAP											0													85.0	72.0	76.0					19																	8464850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.144C>T	19.37:g.8464850C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F48	ENST00000328024.6	37	c.144	CCDS12201.1	19																																																																																			RAB11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000185236		0.647	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11B	HGNC	protein_coding	OTTHUMT00000460343.2	151	0.00	0	C	NM_004218		8464850	8464850	+1	no_errors	ENST00000328024	ensembl	human	known	69_37n	silent	79	33.88	41	SNP	0.883	T
RAB11FIP2	22841	genome.wustl.edu	37	10	119799784	119799784	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:119799784G>T	ENST00000355624.3	-	2	1085	c.646C>A	c.(646-648)Ctc>Atc	p.L216I	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L216I|RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	216					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGACCCAAGAGAAAAGGCTTT	0.438																																						dbGAP											0													187.0	190.0	189.0					10																	119799784		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.646C>A	10.37:g.119799784G>T	ENSP00000347839:p.Leu216Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L216I	ENST00000355624.3	37	c.646	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200110	0.79015	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.70399	-0.48;-0.47	5.5	5.5	0.81552	.	0.189949	0.44902	D	0.000414	D	0.84266	0.5434	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.70935	0.971;0.901	D	0.84399	0.0559	10	0.54805	T	0.06	-16.9153	19.7739	0.96383	0.0:0.0:1.0:0.0	.	216;216	Q3I768;Q7L804	.;RFIP2_HUMAN	I	216	ENSP00000347839:L216I;ENSP00000358200:L216I	ENSP00000347839:L216I	L	-	1	0	RAB11FIP2	119789774	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.132000	0.94455	2.744000	0.94065	0.655000	0.94253	CTC	RAB11FIP2	-	NULL	ENSG00000107560		0.438	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	300	0.00	0	G	NM_014904		119799784	119799784	-1	no_errors	ENST00000369199	ensembl	human	known	69_37n	missense	181	11.27	23	SNP	1.000	T
RAB14	51552	genome.wustl.edu	37	9	123952956	123952956	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:123952956C>T	ENST00000373840.4	-	4	397	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	54					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACTAACTTCGATTATTCTT	0.423																																						dbGAP											0													103.0	100.0	101.0					9																	123952956		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.160G>A	9.37:g.123952956C>T	ENSP00000362946:p.Glu54Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E54K	ENST00000373840.4	37	c.160	CCDS6827.1	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994785	0.93167	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	T;T	0.80480	-1.38;-1.07	5.56	4.66	0.58398	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	N	0.04994	-0.135	0.80722	D	1	D	0.55800	0.973	P	0.47015	0.534	T	0.72157	-0.4375	10	0.42905	T	0.14	.	13.6993	0.62599	0.0:0.9256:0.0:0.0744	.	54	P61106	RAB14_HUMAN	K	54	ENSP00000362946:E54K;ENSP00000400107:E54K	ENSP00000362946:E54K	E	-	1	0	RAB14	122992777	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.347000	0.45714	0.650000	0.86243	GAA	RAB14	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000119396		0.423	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB14	HGNC	protein_coding	OTTHUMT00000053857.1	290	0.00	0	C	NM_016322		123952956	123952956	-1	no_errors	ENST00000373840	ensembl	human	known	69_37n	missense	151	18.82	35	SNP	1.000	T
RAB22A	57403	genome.wustl.edu	37	20	56928356	56928356	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:56928356C>T	ENST00000244040.3	+	4	507	c.226C>T	c.(226-228)Cga>Tga	p.R76*		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	76					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R76*(1)		endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AATGTACTATCGAGGGTCGGC	0.343																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											108.0	109.0	109.0					20																	56928356		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.226C>T	20.37:g.56928356C>T	ENSP00000244040:p.Arg76*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR86|E1P605|Q8TF12|Q9H4E6	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R76*	ENST00000244040.3	37	c.226	CCDS33497.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.641954	0.97726	.	.	ENSG00000124209	ENST00000244040	.	.	.	5.54	4.58	0.56647	.	0.106321	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6553	13.5326	0.61631	0.2812:0.7188:0.0:0.0	.	.	.	.	X	76	.	ENSP00000244040:R76X	R	+	1	2	RAB22A	56361762	1.000000	0.71417	0.954000	0.39281	0.998000	0.95712	3.004000	0.49513	1.422000	0.47177	0.655000	0.94253	CGA	RAB22A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000124209		0.343	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB22A	HGNC	protein_coding	OTTHUMT00000079880.2	376	0.00	0	C			56928356	56928356	+1	no_errors	ENST00000244040	ensembl	human	known	69_37n	nonsense	240	28.36	95	SNP	1.000	T
RAB25	57111	genome.wustl.edu	37	1	156038027	156038027	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156038027C>T	ENST00000361084.5	+	3	480				RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family						positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCCTCTGATCGTATCTCTGT	0.547																																						dbGAP											0													95.0	89.0	91.0					1																	156038027		2085	4235	6320	-	-	-	SO:0001627	intron_variant	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.240-34C>T	1.37:g.156038027C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	RNA	SNP	-	NULL	ENST00000361084.5	37	NULL	CCDS41413.1	1																																																																																			RAB25	-	-	ENSG00000132698		0.547	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	HGNC	protein_coding	OTTHUMT00000046185.1	67	0.00	0	C			156038027	156038027	+1	no_errors	ENST00000497968	ensembl	human	known	69_37n	rna	76	14.61	13	SNP	0.000	T
RAB3D	9545	genome.wustl.edu	37	19	11436206	11436206	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11436206G>A	ENST00000222120.3	-	5	788	c.528C>T	c.(526-528)ttC>ttT	p.F176F	CTC-510F12.6_ENST00000586051.1_RNA|TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Silent_p.F176F|CTC-510F12.4_ENST00000586356.1_RNA	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	176					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CCAGGCGCTCGAAGACCTGCT	0.572																																						dbGAP											0													140.0	124.0	130.0					19																	11436206		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.528C>T	19.37:g.11436206G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F176	ENST00000222120.3	37	c.528	CCDS12257.1	19																																																																																			RAB3D	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000105514		0.572	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3D	HGNC	protein_coding	OTTHUMT00000453211.1	121	0.00	0	G	NM_004283		11436206	11436206	-1	no_errors	ENST00000222120	ensembl	human	known	69_37n	silent	98	13.16	15	SNP	0.975	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220340907	220340907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:220340907C>A	ENST00000358951.2	-	25	3033	c.2917G>T	c.(2917-2919)Gaa>Taa	p.E973*		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	973					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTAACACCTTCTTTGGGTTCA	0.388																																						dbGAP											0													217.0	222.0	220.0					1																	220340907		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2917G>T	1.37:g.220340907C>A	ENSP00000351832:p.Glu973*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.E973*	ENST00000358951.2	37	c.2917	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.319761	0.99135	.	.	ENSG00000118873	ENST00000358951	.	.	.	5.79	5.79	0.91817	.	0.254003	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.0266	0.92934	0.0:1.0:0.0:0.0	.	.	.	.	X	973	.	ENSP00000351832:E973X	E	-	1	0	RAB3GAP2	218407530	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.162000	0.50755	2.748000	0.94277	0.650000	0.86243	GAA	RAB3GAP2	-	NULL	ENSG00000118873		0.388	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	323	0.00	0	C	NM_012414		220340907	220340907	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	nonsense	188	25.69	65	SNP	0.999	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220440365	220440365	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:220440365C>T	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCAATCATTTCGGGGGGCAGG	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+5199G>A	1.37:g.220440365C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-	ENSG00000118873		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	76	0.00	0	C	NM_012414		220440365	220440365	-1	no_errors	ENST00000462353	ensembl	human	known	69_37n	rna	78	15.05	14	SNP	1.000	T
RAB3GAP2	25782	genome.wustl.edu	37	1	220440480	220440480	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:220440480C>T	ENST00000358951.2	-	1	232				RAB3GAP2_ENST00000462353.1_5'UTR	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GAAGTAAGTTCTCTGGCTTAA	0.438																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.115+5084G>A	1.37:g.220440480C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-	ENSG00000118873		0.438	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	122	0.00	0	C	NM_012414		220440480	220440480	-1	no_errors	ENST00000462353	ensembl	human	known	69_37n	rna	93	22.31	27	SNP	1.000	T
ARR3	407	genome.wustl.edu	37	X	69502672	69502672	+	IGR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:69502672C>A	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.F67L|RAB41_ENST00000374473.2_Missense_Mutation_p.F68L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAATTGACTTCTTGTCTAAGA	0.433																																						dbGAP											0													212.0	172.0	185.0					X																	69502672		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502672C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F68L	ENST00000307959.8	37	c.204	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200905	0.58234	.	.	ENSG00000147127	ENST00000509895;ENST00000374473;ENST00000276066	T;T;T	0.80994	-1.44;-1.44;-1.44	4.03	3.17	0.36434	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000010	D	0.88093	0.6344	M	0.87758	2.905	0.32366	N	0.556556	D;D	0.69078	0.991;0.997	P;D	0.65874	0.467;0.939	D	0.88502	0.3083	10	0.87932	D	0	.	7.2853	0.26335	0.0:0.7901:0.0:0.2099	.	67;68	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	L	17;68;67	ENSP00000421643:F17L;ENSP00000363597:F68L;ENSP00000276066:F67L	ENSP00000276066:F67L	F	+	3	2	RAB41	69419397	0.980000	0.34600	0.022000	0.16811	0.810000	0.45777	0.530000	0.23036	0.856000	0.35383	0.513000	0.50165	TTC	RAB41	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000147127		0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB41	HGNC	protein_coding	OTTHUMT00000057055.2	565	0.00	0	C	NM_004312		69502672	69502672	+1	no_errors	ENST00000374473	ensembl	human	known	69_37n	missense	442	25.96	155	SNP	0.996	A
RAB6A	5870	genome.wustl.edu	37	11	73390725	73390725	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:73390725C>T	ENST00000336083.3	-	7	991	c.536G>A	c.(535-537)aGc>aAc	p.S179N	RAB6A_ENST00000541588.1_Missense_Mutation_p.S75N|RAB6A_ENST00000536566.1_Missense_Mutation_p.S146N|RAB6A_ENST00000310653.6_Missense_Mutation_p.S179N	NM_198896.1	NP_942599.1	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	179					antigen processing and presentation (GO:0019882)|early endosome to Golgi transport (GO:0034498)|GTP catabolic process (GO:0006184)|minus-end-directed organelle transport along microtubule (GO:0072385)|peptidyl-cysteine methylation (GO:0018125)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|protein domain specific binding (GO:0019904)			large_intestine(2)|lung(2)	4						GTCCTGTGTGCTTTCCATTCC	0.418																																						dbGAP											0													154.0	158.0	156.0					11																	73390725		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF130986	CCDS8223.1, CCDS8224.1, CCDS58155.1, CCDS58156.1	11q13.3	2008-08-08			ENSG00000175582	ENSG00000175582		"""RAB, member RAS oncogene"""	9786	protein-coding gene	gene with protein product		179513		RAB6			Standard	NM_001243718		Approved		uc001ouf.3	P20340	OTTHUMG00000134308	ENST00000336083.3:c.536G>A	11.37:g.73390725C>T	ENSP00000336850:p.Ser179Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K133|B7Z772|F5H668|Q1W5D8|Q5U0A8|Q9UBE4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S179N	ENST00000336083.3	37	c.536	CCDS8224.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.118992|4.118992	0.77323|0.77323	.|.	.|.	ENSG00000175582|ENSG00000175582	ENST00000541973|ENST00000310653;ENST00000336083;ENST00000393571;ENST00000536566;ENST00000541588;ENST00000540771	.|T;T;T;T	.|0.79845	.|-1.31;-1.31;-1.31;-0.07	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.080364	.|0.85682	.|D	.|0.000000	T|T	0.67221|0.67221	0.2870|0.2870	N|N	0.12182|0.12182	0.205|0.205	0.35856|0.35856	D|D	0.827106|0.827106	.|B;B;B	.|0.28026	.|0.198;0.0;0.0	.|B;B;B	.|0.32289	.|0.143;0.001;0.005	T|T	0.68488|0.68488	-0.5395|-0.5395	5|10	.|0.18276	.|T	.|0.48	-3.7362|-3.7362	15.6746|15.6746	0.77307|0.77307	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|75;179;179	.|Q1W5D8;P20340;P20340-2	.|.;RAB6A_HUMAN;.	T|N	172|179;179;179;146;75;57	.|ENSP00000311449:S179N;ENSP00000336850:S179N;ENSP00000437863:S146N;ENSP00000445350:S75N	.|ENSP00000311449:S179N	A|S	-|-	1|2	0|0	RAB6A|RAB6A	73068373|73068373	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.804000|3.804000	0.55568|0.55568	2.477000|2.477000	0.83638|0.83638	0.557000|0.557000	0.71058|0.71058	GCA|AGC	RAB6A	-	smart_Ran_GTPase	ENSG00000175582		0.418	RAB6A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAB6A	HGNC	protein_coding	OTTHUMT00000259241.2	405	0.25	1	C			73390725	73390725	-1	no_errors	ENST00000310653	ensembl	human	known	69_37n	missense	372	11.61	49	SNP	1.000	T
RAB6C	84084	genome.wustl.edu	37	2	130738363	130738363	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:130738363C>A	ENST00000410061.2	+	1	1129	c.675C>A	c.(673-675)ttC>ttA	p.F225L	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	225					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					CTTACTCTTTCATTGACTGCA	0.458																																						dbGAP											0													41.0	40.0	41.0					2																	130738363		1981	4173	6154	-	-	-	SO:0001583	missense	0			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.675C>A	2.37:g.130738363C>A	ENSP00000387307:p.Phe225Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F225L	ENST00000410061.2	37	c.675	CCDS46408.1	2	.	.	.	.	.	.	.	.	.	.	c	12.93	2.086089	0.36855	.	.	ENSG00000222014	ENST00000410061	T	0.67523	-0.27	0.49	0.49	0.16861	.	.	.	.	.	T	0.42675	0.1213	N	0.08118	0	0.20489	N	0.999899	B	0.11235	0.004	B	0.04013	0.001	T	0.36261	-0.9755	8	0.66056	D	0.02	.	.	.	.	.	225	Q9H0N0	RAB6C_HUMAN	L	225	ENSP00000387307:F225L	ENSP00000387307:F225L	F	+	3	2	RAB6C	130454833	1.000000	0.71417	0.422000	0.26621	0.361000	0.29550	2.144000	0.42197	0.519000	0.28406	0.121000	0.15741	TTC	RAB6C	-	NULL	ENSG00000222014		0.458	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	345	0.00	0	C	NM_032144		130738363	130738363	+1	no_errors	ENST00000410061	ensembl	human	known	69_37n	missense	186	26.48	67	SNP	0.905	A
RAB9B	51209	genome.wustl.edu	37	X	103080350	103080350	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:103080350A>C	ENST00000243298.2	-	3	649	c.365T>G	c.(364-366)cTg>cGg	p.L122R		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	122					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CTTGTTACCCAGAACTACAAA	0.458																																						dbGAP											0													201.0	198.0	199.0					X																	103080350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.365T>G	X.37:g.103080350A>C	ENSP00000243298:p.Leu122Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M0|Q52LX2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L122R	ENST00000243298.2	37	c.365	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	A	16.67	3.186396	0.57909	.	.	ENSG00000123570	ENST00000243298	T	0.78707	-1.2	5.51	5.51	0.81932	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91251	0.5029	10	0.87932	D	0	-14.3876	12.4598	0.55725	1.0:0.0:0.0:0.0	.	122	Q9NP90	RAB9B_HUMAN	R	122	ENSP00000243298:L122R	ENSP00000243298:L122R	L	-	2	0	RAB9B	102967006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	1.849000	0.53698	0.486000	0.48141	CTG	RAB9B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123570		0.458	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	HGNC	protein_coding	OTTHUMT00000057746.1	194	0.00	0	A			103080350	103080350	-1	no_errors	ENST00000243298	ensembl	human	known	69_37n	missense	77	27.78	30	SNP	1.000	C
RAB9B	51209	genome.wustl.edu	37	X	103080650	103080650	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:103080650G>A	ENST00000243298.2	-	3	349	c.65C>T	c.(64-66)tCg>tTg	p.S22L		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	22					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GTTCATAAGCGAACTTTTCCC	0.448																																						dbGAP											0													135.0	125.0	129.0					X																	103080650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.65C>T	X.37:g.103080650G>A	ENSP00000243298:p.Ser22Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M0|Q52LX2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S22L	ENST00000243298.2	37	c.65	CCDS14515.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017601	0.75161	.	.	ENSG00000123570	ENST00000243298	T	0.74315	-0.83	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	D	0.94830	0.7995	10	0.87932	D	0	-3.3122	16.5572	0.84488	0.0:0.0:1.0:0.0	.	22	Q9NP90	RAB9B_HUMAN	L	22	ENSP00000243298:S22L	ENSP00000243298:S22L	S	-	2	0	RAB9B	102967306	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.863000	0.87023	2.518000	0.84900	0.600000	0.82982	TCG	RAB9B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123570		0.448	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB9B	HGNC	protein_coding	OTTHUMT00000057746.1	174	0.00	0	G			103080650	103080650	-1	no_errors	ENST00000243298	ensembl	human	known	69_37n	missense	113	15.67	21	SNP	1.000	A
RABAC1	10567	genome.wustl.edu	37	19	42461190	42461190	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:42461190G>A	ENST00000222008.6	-	4	546	c.449C>T	c.(448-450)tCg>tTg	p.S150L	RABAC1_ENST00000601078.1_Missense_Mutation_p.S56L|RABAC1_ENST00000601891.1_Intron	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	150						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	identical protein binding (GO:0042802)			central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGACGGCCGAGCCCGCACC	0.652																																						dbGAP											0													66.0	67.0	67.0					19																	42461190		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ133534	CCDS12593.1	19q13.2	2012-09-20			ENSG00000105404	ENSG00000105404			9794	protein-coding gene	gene with protein product	"""PRA1 domain family 1"", ""prenylated Rab acceptor 1"""	604925				10329441, 10751420	Standard	NM_006423		Approved	PRA1, PRAF1, YIP3	uc002osf.3	Q9UI14		ENST00000222008.6:c.449C>T	19.37:g.42461190G>A	ENSP00000222008:p.Ser150Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Y2|Q9Y3R1	Missense_Mutation	SNP	pfam_Prenylated_rab_accept_PRA1	p.S150L	ENST00000222008.6	37	c.449	CCDS12593.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991334	0.74703	.	.	ENSG00000105404	ENST00000222008	T	0.42900	0.96	4.53	4.53	0.55603	.	0.220006	0.38605	N	0.001635	T	0.47154	0.1430	L	0.39147	1.195	0.50632	D	0.999887	D	0.63880	0.993	P	0.53689	0.732	T	0.45977	-0.9224	10	0.49607	T	0.09	-1.0599	15.1181	0.72419	0.0:0.0:1.0:0.0	.	150	Q9UI14	PRAF1_HUMAN	L	150	ENSP00000222008:S150L	ENSP00000222008:S150L	S	-	2	0	RABAC1	47153030	1.000000	0.71417	0.900000	0.35374	0.976000	0.68499	8.182000	0.89698	2.258000	0.74832	0.563000	0.77884	TCG	RABAC1	-	pfam_Prenylated_rab_accept_PRA1	ENSG00000105404		0.652	RABAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABAC1	HGNC	protein_coding	OTTHUMT00000463388.1	17	0.00	0	G	NM_006423		42461190	42461190	-1	no_errors	ENST00000222008	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.998	A
RABEP1	9135	genome.wustl.edu	37	17	5264753	5264753	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:5264753C>A	ENST00000546142.2	+	9	1533	c.1346C>A	c.(1345-1347)tCt>tAt	p.S449Y	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000262477.6_Missense_Mutation_p.S449Y|RABEP1_ENST00000341923.6_Missense_Mutation_p.S449Y|RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000537505.1_Missense_Mutation_p.S406Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.S449Y			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	449					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GATTCAGTGTCTGAGAACTTT	0.443																																						dbGAP											0													105.0	101.0	102.0					17																	5264753		1941	4135	6076	-	-	-	SO:0001583	missense	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1346C>A	17.37:g.5264753C>A	ENSP00000437701:p.Ser449Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.S449Y	ENST00000546142.2	37	c.1346	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135146	0.77662	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.49139	0.79;0.8;0.79;0.8;0.79	5.54	5.54	0.83059	.	0.231714	0.44688	D	0.000432	T	0.46964	0.1420	N	0.14661	0.345	0.80722	D	1	D;P;D;P;D	0.59767	0.969;0.947;0.976;0.947;0.986	P;P;P;P;P	0.54100	0.742;0.556;0.556;0.453;0.742	T	0.50048	-0.8873	10	0.52906	T	0.07	-5.0181	18.8588	0.92264	0.0:1.0:0.0:0.0	.	406;406;442;449;449	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2	.;.;.;RABE1_HUMAN;.	Y	449;449;442;449;449;406	ENSP00000262477:S449Y;ENSP00000386150:S449Y;ENSP00000437701:S449Y;ENSP00000339569:S449Y;ENSP00000445408:S406Y	ENSP00000262477:S449Y	S	+	2	0	RABEP1	5205477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.033000	0.57282	2.779000	0.95612	0.655000	0.94253	TCT	RABEP1	-	prints_Rabaptin	ENSG00000029725		0.443	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	219	0.00	0	C	NM_004703		5264753	5264753	+1	no_errors	ENST00000262477	ensembl	human	known	69_37n	missense	108	18.80	25	SNP	1.000	A
RABEP1	9135	genome.wustl.edu	37	17	5284833	5284833	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:5284833G>A	ENST00000546142.2	+	17	2674				NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Intron|RABEP1_ENST00000341923.6_Intron|RABEP1_ENST00000537505.1_Intron|RABEP1_ENST00000408982.2_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TACAGAGCACGAAGGCAGTTT	0.502																																						dbGAP											0													64.0	65.0	65.0					17																	5284833		1941	4139	6080	-	-	-	SO:0001627	intron_variant	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.2487+33G>A	17.37:g.5284833G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom	p.E134K	ENST00000546142.2	37	c.400	CCDS45592.1	17																																																																																			RABEP1	-	NULL	ENSG00000029725		0.502	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	85	0.00	0	G	NM_004703		5284833	5284833	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000572250	ensembl	human	putative	69_37n	missense	56	20.00	14	SNP	0.000	A
RABGAP1	23637	genome.wustl.edu	37	9	125761027	125761027	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:125761027C>A	ENST00000373647.4	+	10	1490	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	452					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTGAAAATTTCTTTTTGAAAC	0.393																																						dbGAP											0													58.0	58.0	58.0					9																	125761027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1356C>A	9.37:g.125761027C>A	ENSP00000362751:p.Phe452Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.F452L	ENST00000373647.4	37	c.1356	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947002	0.73672	.	.	ENSG00000011454	ENST00000373647	T	0.13901	2.55	4.56	2.7	0.31948	.	0.000000	0.85682	D	0.000000	T	0.29389	0.0732	M	0.74467	2.265	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.01635	-1.1307	10	0.87932	D	0	-12.5742	6.2747	0.20973	0.1508:0.6769:0.0:0.1723	.	452	Q9Y3P9	RBGP1_HUMAN	L	452	ENSP00000362751:F452L	ENSP00000362751:F452L	F	+	3	2	RABGAP1	124800848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.471000	0.35365	0.531000	0.28639	0.655000	0.94253	TTC	RABGAP1	-	NULL	ENSG00000011454		0.393	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	152	0.00	0	C	NM_012197		125761027	125761027	+1	no_errors	ENST00000373647	ensembl	human	known	69_37n	missense	93	24.39	30	SNP	1.000	A
RABGGTA	5875	genome.wustl.edu	37	14	24735876	24735876	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24735876C>T	ENST00000399409.3	-	14	1951				RABGGTA_ENST00000216840.6_Intron|RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTTACCTGTTCGGGGTGGAGG	0.592																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1467+105G>A	14.37:g.24735876C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5N2|D3DS69	Missense_Mutation	SNP	NULL	p.R130Q	ENST00000399409.3	37	c.389	CCDS45088.1	14																																																																																			RABGGTA	-	NULL	ENSG00000100949		0.592	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	47	0.00	0	C	NM_182836		24735876	24735876	-1	no_start_codon	ENST00000560243	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	0.002	T
RACGAP1	29127	genome.wustl.edu	37	12	50387974	50387974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:50387974G>A	ENST00000427314.2	-	14	1502	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	RACGAP1_ENST00000551016.1_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000454520.2_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000547905.1_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000312377.5_Nonsense_Mutation_p.R427*|RACGAP1_ENST00000434422.1_Nonsense_Mutation_p.R427*	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1									p.R427*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGAGGTTTCGAAGAAAGTCT	0.423																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											136.0	132.0	133.0					12																	50387974		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1279C>T	12.37:g.50387974G>A	ENSP00000404190:p.Arg427*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.R427*	ENST00000427314.2	37	c.1279	CCDS8795.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.748593	0.96882	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000549342	.	.	.	5.35	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9718	13.0254	0.58812	0.0:0.0:0.5842:0.4158	.	.	.	.	X	427;427;427;427;427;427;163	.	ENSP00000309871:R427X	R	-	1	2	RACGAP1	48674241	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.009000	0.57110	1.238000	0.43771	-0.277000	0.10078	CGA	RACGAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000161800		0.423	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	181	0.00	0	G	NM_013277		50387974	50387974	-1	no_errors	ENST00000312377	ensembl	human	known	69_37n	nonsense	188	21.01	50	SNP	0.999	A
RAD21	5885	genome.wustl.edu	37	8	117859871	117859871	+	Silent	SNP	C	C	T	rs200021994		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:117859871C>T	ENST00000297338.2	-	14	2051	c.1764G>A	c.(1762-1764)acG>acA	p.T588T	UTP23_ENST00000520733.1_Intron|RAD21_ENST00000517749.1_Silent_p.T26T|RAD21_ENST00000523986.1_Silent_p.T92T|RAD21_ENST00000518055.1_Silent_p.T133T|UTP23_ENST00000517820.1_Intron	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	588					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T588T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTTTTCTGTTCGTATTTCGAC	0.393																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											92.0	85.0	87.0					8																	117859871		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1764G>A	8.37:g.117859871C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0E0|Q15001|Q99568	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.T588	ENST00000297338.2	37	c.1764	CCDS6321.1	8																																																																																			RAD21	-	pfam_Rad21/Rec8_C_eu,pfam_ScpA	ENSG00000164754		0.393	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	229	0.43	1	C	NM_006265		117859871	117859871	-1	no_errors	ENST00000297338	ensembl	human	known	69_37n	silent	150	14.29	25	SNP	0.941	T
RAD21	5885	genome.wustl.edu	37	8	117875375	117875375	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:117875375G>A	ENST00000297338.2	-	3	555	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	90					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATACCTGGCCGAAAAGCCATC	0.353																																						dbGAP											0													122.0	116.0	118.0					8																	117875375		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.268C>T	8.37:g.117875375G>A	ENSP00000297338:p.Arg90Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.R90W	ENST00000297338.2	37	c.268	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749274	0.89753	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485;ENST00000519837;ENST00000522699	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.72	5.72	0.89469	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	H	0.95365	3.66	0.80722	D	1	P	0.44478	0.836	B	0.33620	0.167	T	0.71626	-0.4536	10	0.72032	D	0.01	-9.7134	19.877	0.96880	0.0:0.0:1.0:0.0	.	90	O60216	RAD21_HUMAN	W	90	ENSP00000297338:R90W;ENSP00000429342:R90W;ENSP00000427923:R90W;ENSP00000430524:R90W;ENSP00000428158:R90W	ENSP00000297338:R90W	R	-	1	2	RAD21	117944556	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.472000	0.80996	2.696000	0.92011	0.650000	0.86243	CGG	RAD21	-	pfam_Rad21_Rec8_N	ENSG00000164754		0.353	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1	327	0.00	0	G	NM_006265		117875375	117875375	-1	no_errors	ENST00000297338	ensembl	human	known	69_37n	missense	222	26.25	79	SNP	1.000	A
RAD21L1	642636	genome.wustl.edu	37	20	1218722	1218722	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:1218722C>T	ENST00000409241.1	+	6	603	c.510C>T	c.(508-510)ttC>ttT	p.F170F	RAD21L1_ENST00000402452.1_Silent_p.F170F|RAD21L1_ENST00000381882.2_Silent_p.F170F	NM_001136566.2	NP_001130038.2	Q9H4I0	RD21L_HUMAN	RAD21-like 1 (S. pombe)	170					attachment of telomeric heterochromatin to nuclear envelope (GO:0070197)|chromosome segregation (GO:0007059)|double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				NS(1)|breast(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	7						GACATAGCTTCTTTGATGACA	0.338																																						dbGAP											0													103.0	88.0	93.0					20																	1218722		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AL031665	CCDS46568.1	20p13	2011-08-12			ENSG00000244588	ENSG00000244588			16271	protein-coding gene	gene with protein product							Standard	NM_001136566		Approved	dJ545L17.2, RAD21L	uc010gab.1	Q9H4I0	OTTHUMG00000031664	ENST00000409241.1:c.510C>T	20.37:g.1218722C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXL0|B7ZBB1|B7ZW76|Q5W0X5	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.F170	ENST00000409241.1	37	c.510	CCDS46568.1	20																																																																																			RAD21L1	-	NULL	ENSG00000244588		0.338	RAD21L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21L1	HGNC	protein_coding	OTTHUMT00000334022.1	174	0.00	0	C			1218722	1218722	+1	no_errors	ENST00000409241	ensembl	human	known	69_37n	silent	149	12.87	22	SNP	1.000	T
RAD50	10111	genome.wustl.edu	37	5	131923370	131923370	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:131923370G>T	ENST00000265335.6	+	6	1260	c.873G>T	c.(871-873)gaG>gaT	p.E291D	RAD50_ENST00000378823.3_Missense_Mutation_p.E152D|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	291					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.E152D(1)|p.E291D(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGGAAGAGAAAATGGAAA	0.323								Homologous recombination																														dbGAP											2	Substitution - Missense(2)	large_intestine(2)											70.0	74.0	73.0					5																	131923370		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.873G>T	5.37:g.131923370G>T	ENSP00000265335:p.Glu291Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.E291D	ENST00000265335.6	37	c.873	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215413	0.39102	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07327	3.5;3.2;3.2	5.77	5.77	0.91146	.	0.265562	0.43579	D	0.000549	T	0.08358	0.0208	L	0.32530	0.975	0.41700	D	0.989396	B	0.14805	0.011	B	0.19666	0.026	T	0.28522	-1.0041	10	0.11794	T	0.64	-4.3721	17.1336	0.86733	0.0:0.0:1.0:0.0	.	291	Q92878	RAD50_HUMAN	D	152;291;291	ENSP00000368100:E152D;ENSP00000265335:E291D;ENSP00000400049:E291D	ENSP00000265335:E291D	E	+	3	2	RAD50	131951269	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.487000	0.60293	2.709000	0.92574	0.655000	0.94253	GAG	RAD50	-	tigrfam_Rad50	ENSG00000113522		0.323	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	309	0.00	0	G	NM_005732		131923370	131923370	+1	no_errors	ENST00000265335	ensembl	human	known	69_37n	missense	265	21.13	71	SNP	1.000	T
RAD50	10111	genome.wustl.edu	37	5	131953803	131953803	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:131953803G>T	ENST00000265335.6	+	21	3593	c.3206G>T	c.(3205-3207)aGa>aTa	p.R1069I	RAD50_ENST00000378823.3_Missense_Mutation_p.R930I			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1069					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATATAAAAAGAAATCATAAT	0.328								Homologous recombination																														dbGAP											0													130.0	152.0	145.0					5																	131953803		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3206G>T	5.37:g.131953803G>T	ENSP00000265335:p.Arg1069Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.R1069I	ENST00000265335.6	37	c.3206	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898565	0.52227	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.05199	3.48;3.7	5.4	5.4	0.78164	.	0.046700	0.85682	D	0.000000	T	0.05593	0.0147	N	0.24115	0.695	0.58432	D	0.999992	B	0.30763	0.294	B	0.26864	0.074	T	0.46884	-0.9159	10	0.36615	T	0.2	-21.4717	15.0739	0.72063	0.0:0.1414:0.8586:0.0	.	1069	Q92878	RAD50_HUMAN	I	930;1069	ENSP00000368100:R930I;ENSP00000265335:R1069I	ENSP00000265335:R1069I	R	+	2	0	RAD50	131981702	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.443000	0.52907	2.684000	0.91462	0.655000	0.94253	AGA	RAD50	-	tigrfam_Rad50	ENSG00000113522		0.328	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	197	0.00	0	G	NM_005732		131953803	131953803	+1	no_errors	ENST00000265335	ensembl	human	known	69_37n	missense	105	26.06	37	SNP	1.000	T
RAD54L	8438	genome.wustl.edu	37	1	46739837	46739837	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:46739837G>A	ENST00000371975.4	+	15	2312	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	RAD54L_ENST00000442598.1_Silent_p.T546T	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	546	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGGATGGCACGATGTCCATTA	0.428								Direct reversal of damage;Homologous recombination																														dbGAP											0													109.0	101.0	104.0					1																	46739837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.1638G>A	1.37:g.46739837G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TE31|Q6IUY3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T546	ENST00000371975.4	37	c.1638	CCDS532.1	1																																																																																			RAD54L	-	pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C	ENSG00000085999		0.428	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	414	0.00	0	G	NM_003579		46739837	46739837	+1	no_errors	ENST00000371975	ensembl	human	known	69_37n	silent	256	17.63	55	SNP	0.300	A
VPS29	51699	genome.wustl.edu	37	12	110941660	110941660	+	5'Flank	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:110941660G>A	ENST00000549578.1	-	0	0				VPS29_ENST00000551655.1_5'Flank|RAD9B_ENST00000409300.1_Nonsense_Mutation_p.W32*|VPS29_ENST00000447578.2_5'Flank|RAD9B_ENST00000392672.4_Nonsense_Mutation_p.W32*|VPS29_ENST00000549970.1_5'Flank|VPS29_ENST00000546588.1_5'Flank|RAD9B_ENST00000409778.3_Nonsense_Mutation_p.W32*|RAD9B_ENST00000433301.1_3'UTR|VPS29_ENST00000360579.7_5'Flank|RAD9B_ENST00000409425.1_5'UTR|RAD9B_ENST00000409246.1_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)						protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ACGAGTTCTGGCTAGACCCAT	0.368																																						dbGAP											0													85.0	73.0	77.0					12																	110941660		1567	3582	5149	-	-	-	SO:0001631	upstream_gene_variant	0			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527		12.37:g.110941660G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Nonsense_Mutation	SNP	pfam_Rad9,pirsf_Cell_cycle_RAD9	p.W32*	ENST00000549578.1	37	c.96	CCDS41832.1	12	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065559	0.55539	.	.	ENSG00000151164	ENST00000392672;ENST00000409300;ENST00000409778	.	.	.	5.96	5.96	0.96718	.	0.065241	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8897	16.4911	0.84201	0.0:0.1305:0.8694:0.0	.	.	.	.	X	32	.	ENSP00000376440:W32X	W	+	3	0	RAD9B	109426043	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	5.835000	0.69368	2.832000	0.97577	0.655000	0.94253	TGG	RAD9B	-	pfam_Rad9,pirsf_Cell_cycle_RAD9	ENSG00000151164		0.368	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404623.1	185	0.00	0	G			110941660	110941660	+1	no_errors	ENST00000392672	ensembl	human	known	69_37n	nonsense	138	12.66	20	SNP	1.000	A
RADIL	55698	genome.wustl.edu	37	7	4871804	4871804	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:4871804T>G	ENST00000399583.3	-	5	1609	c.1422A>C	c.(1420-1422)aaA>aaC	p.K474N	RADIL_ENST00000538469.1_Missense_Mutation_p.K234N|RADIL_ENST00000536091.1_Missense_Mutation_p.K474N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	474					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTTCTTTGGTTTTCTCCTACA	0.527																																						dbGAP											0													85.0	94.0	91.0					7																	4871804		2004	4198	6202	-	-	-	SO:0001583	missense	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1422A>C	7.37:g.4871804T>G	ENSP00000382492:p.Lys474Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.K474N	ENST00000399583.3	37	c.1422	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504318	0.64410	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.44482	0.92;1.68;0.92	5.15	-1.33	0.09172	.	0.146972	0.43919	D	0.000518	T	0.58177	0.2104	M	0.81239	2.535	0.28098	N	0.931526	D	0.89917	1.0	D	0.69142	0.962	T	0.55685	-0.8102	10	0.72032	D	0.01	-16.5366	9.1802	0.37136	0.0:0.5268:0.0:0.4732	.	474	Q96JH8	RADIL_HUMAN	N	474;445;208;474;234	ENSP00000382492:K474N;ENSP00000442533:K474N;ENSP00000442966:K234N	ENSP00000320946:K445N	K	-	3	2	RADIL	4838330	0.999000	0.42202	0.982000	0.44146	0.829000	0.46940	0.372000	0.20467	-0.501000	0.06605	0.454000	0.30748	AAA	RADIL	-	NULL	ENSG00000157927		0.527	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	160	0.00	0	T	NM_018059		4871804	4871804	-1	no_errors	ENST00000399583	ensembl	human	known	69_37n	missense	83	13.54	13	SNP	0.992	G
RAE1	8480	genome.wustl.edu	37	20	55948751	55948751	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:55948751G>A	ENST00000395841.2	+	10	1202	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	RAE1_ENST00000527947.1_Missense_Mutation_p.R261Q|RAE1_ENST00000371242.2_Missense_Mutation_p.R261Q|RAE1_ENST00000395840.2_Missense_Mutation_p.R261Q	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	261					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AAATGTCATCGATCTAATGGA	0.403																																						dbGAP											0													226.0	217.0	220.0					20																	55948751		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.782G>A	20.37:g.55948751G>A	ENSP00000379182:p.Arg261Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R261Q	ENST00000395841.2	37	c.782	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.071324	0.93950	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000395840	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.75	3.75	0.43078	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88145	0.6358	H	0.97635	4.045	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.91635	0.529;0.999;0.999	D	0.92238	0.5798	10	0.87932	D	0	-19.6719	16.3329	0.83049	0.0:0.2478:0.7522:0.0	.	261;261;261	E9PQ57;A8K882;P78406	.;.;RAE1L_HUMAN	Q	261	ENSP00000379182:R261Q;ENSP00000360286:R261Q;ENSP00000432609:R261Q;ENSP00000379181:R261Q	ENSP00000360286:R261Q	R	+	2	0	RAE1	55382158	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	9.468000	0.97676	0.741000	0.32674	0.655000	0.94253	CGA	RAE1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000101146		0.403	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	376	0.00	0	G			55948751	55948751	+1	no_errors	ENST00000371242	ensembl	human	known	69_37n	missense	289	14.96	51	SNP	1.000	A
RAG1	5896	genome.wustl.edu	37	11	36597340	36597340	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:36597340G>T	ENST00000299440.5	+	2	2598	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	829					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAGAGGAAAGGAAAAGGTGG	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	dbGAP											0													63.0	62.0	62.0					11																	36597340		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2486G>T	11.37:g.36597340G>T	ENSP00000299440:p.Arg829Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.R829M	ENST00000299440.5	37	c.2486	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548700	0.65311	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87491	-2.26;-2.26	6.13	6.13	0.99165	.	0.050961	0.64402	D	0.000001	D	0.95351	0.8491	H	0.95043	3.615	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.95891	0.8907	10	0.87932	D	0	.	13.9619	0.64185	0.0687:0.0:0.9313:0.0	.	829	P15918	RAG1_HUMAN	M	829	ENSP00000434610:R829M;ENSP00000299440:R829M	ENSP00000299440:R829M	R	+	2	0	RAG1	36553916	1.000000	0.71417	0.903000	0.35520	0.984000	0.73092	6.469000	0.73555	2.932000	0.99384	0.644000	0.83932	AGG	RAG1	-	NULL	ENSG00000166349		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	124	0.00	0	G	NM_000448		36597340	36597340	+1	no_errors	ENST00000299440	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	T
RALB	5899	genome.wustl.edu	37	2	121050755	121050755	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:121050755G>A	ENST00000272519.5	+	5	810	c.540G>A	c.(538-540)aaG>aaA	p.K180K	RALB_ENST00000404963.3_Silent_p.K201K|RALB_ENST00000420510.1_Silent_p.K180K|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000474855.2_Silent_p.K202K	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	180					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GAACAAAGAAGATGTCAGAAA	0.353																																						dbGAP											0													95.0	92.0	93.0					2																	121050755		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.540G>A	2.37:g.121050755G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E040|Q53T32|Q6ZS74	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K202	ENST00000272519.5	37	c.606	CCDS2131.1	2																																																																																			RALB	-	smart_Ran_GTPase	ENSG00000144118		0.353	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALB	HGNC	protein_coding	OTTHUMT00000254232.3	572	0.00	0	G	NM_002881		121050755	121050755	+1	no_errors	ENST00000474855	ensembl	human	known	69_37n	silent	492	14.73	85	SNP	1.000	A
RALGAPA1	253959	genome.wustl.edu	37	14	36039830	36039830	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:36039830G>T	ENST00000389698.3	-	38	6361	c.5971C>A	c.(5971-5973)Caa>Aaa	p.Q1991K	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q1991K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q2004K|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q2038K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1991	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACAAGTTTTGATACAATGGA	0.323																																						dbGAP											0													51.0	49.0	50.0					14																	36039830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5971C>A	14.37:g.36039830G>T	ENSP00000374348:p.Gln1991Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.Q2038K	ENST00000389698.3	37	c.6112	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675942	0.88445	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.96	5.06	0.68205	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97331	0.9127	M	0.83012	2.62	0.52099	D	0.999946	D;D;P;D	0.76494	0.986;0.999;0.672;0.997	D;D;B;D	0.76071	0.979;0.987;0.309;0.974	D	0.97912	1.0309	10	0.72032	D	0.01	-12.1389	17.1697	0.86826	0.0:0.1263:0.8737:0.0	.	2038;2004;1991;1991	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	1991;1991;1991;2038;629;2004;2038	ENSP00000374348:Q1991K;ENSP00000302647:Q1991K;ENSP00000258840:Q2038K;ENSP00000451133:Q629K;ENSP00000371803:Q2004K;ENSP00000451877:Q2038K	ENSP00000258840:Q2038K	Q	-	1	0	RALGAPA1	35109581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.505000	0.48720	0.655000	0.94253	CAA	RALGAPA1	-	pfam_Rap_GAP,pfscan_Rap_GAP	ENSG00000174373		0.323	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	92	0.00	0	G	XM_210022		36039830	36039830	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	missense	65	20.73	17	SNP	1.000	T
RALGAPA1	253959	genome.wustl.edu	37	14	36244884	36244884	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:36244884G>T	ENST00000389698.3	-	2	564	c.174C>A	c.(172-174)ttC>ttA	p.F58L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.F58L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.F58L|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.F58L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	58					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATTTTCAAAGAACACATAGT	0.259																																						dbGAP											0													39.0	44.0	42.0					14																	36244884		2200	4285	6485	-	-	-	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.174C>A	14.37:g.36244884G>T	ENSP00000374348:p.Phe58Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.F58L	ENST00000389698.3	37	c.174	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964613	0.53507	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.62	2.64	0.31445	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	L	0.54323	1.7	0.50632	D	0.999886	P;P;P;P	0.43024	0.798;0.696;0.69;0.651	B;B;B;B	0.38264	0.269;0.139;0.269;0.163	T	0.59322	-0.7476	10	0.13853	T	0.58	-11.9928	8.8021	0.34916	0.2445:0.0:0.7555:0.0	.	58;58;58;58	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	58	ENSP00000374348:F58L;ENSP00000302647:F58L;ENSP00000258840:F58L;ENSP00000371803:F58L;ENSP00000451877:F58L	ENSP00000258840:F58L	F	-	3	2	RALGAPA1	35314635	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.464000	0.53057	0.241000	0.21283	0.591000	0.81541	TTC	RALGAPA1	-	NULL	ENSG00000174373		0.259	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	86	0.00	0	G	XM_210022		36244884	36244884	-1	no_errors	ENST00000258840	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	1.000	T
RALGAPA2	57186	genome.wustl.edu	37	20	20493169	20493169	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:20493169G>A	ENST00000202677.7	-	32	4851	c.4844C>T	c.(4843-4845)tCt>tTt	p.S1615F		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1615					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCTGTCCCAAGAATTCATTCC	0.433																																						dbGAP											0													38.0	36.0	37.0					20																	20493169		1848	4086	5934	-	-	-	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4844C>T	20.37:g.20493169G>A	ENSP00000202677:p.Ser1615Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S1615F	ENST00000202677.7	37	c.4844	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.438720|4.438720	0.83885|0.83885	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.93811	.|-3.29;-3.29	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96340|0.96340	0.8806|0.8806	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.89917	.|0.805;1.0;0.63	.|P;D;P	.|0.91635	.|0.453;0.999;0.54	D|D	0.96336|0.96336	0.9247|0.9247	5|10	.|0.87932	.|D	.|0	.|.	19.9934|19.9934	0.97376|0.97376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1453;1615;1615	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	F|F	1432;26|45;1615	.|ENSP00000408332:S45F;ENSP00000202677:S1615F	.|ENSP00000202677:S1615F	L|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20441169|20441169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.426000|9.426000	0.97469|0.97469	2.732000|2.732000	0.93576|0.93576	0.561000|0.561000	0.74099|0.74099	CTT|TCT	RALGAPA2	-	NULL	ENSG00000188559		0.433	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	118	0.00	0	G	NM_020343		20493169	20493169	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	missense	112	15.15	20	SNP	1.000	A
RALGAPA2	57186	genome.wustl.edu	37	20	20571928	20571928	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:20571928G>A	ENST00000202677.7	-	17	2241	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	745					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCTGCAGGTGCATTTTCTGA	0.488																																						dbGAP											0													47.0	52.0	50.0					20																	20571928		2043	4190	6233	-	-	-	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2234C>T	20.37:g.20571928G>A	ENSP00000202677:p.Ala745Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.A745V	ENST00000202677.7	37	c.2234	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.09|10.09	1.256242|1.256242	0.22965|0.22965	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.94687|.	-3.49|.	5.74|5.74	-1.42|-1.42	0.08913|0.08913	.|.	1.283840|.	0.04660|.	N|.	0.408664|.	T|T	0.12603|0.12603	0.0306|0.0306	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.30208|0.30208	-0.9986|-0.9986	10|5	0.17832|.	T|.	0.49|.	.|.	5.4417|5.4417	0.16513|0.16513	0.4793:0.2435:0.2771:0.0|0.4793:0.2435:0.2771:0.0	.|.	583;745|.	A8MSM5;Q2PPJ7|.	.;RGPA2_HUMAN|.	V|Y	745|562	ENSP00000202677:A745V|.	ENSP00000202677:A745V|.	A|H	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20519928|20519928	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.240000|0.240000	0.18042|0.18042	0.093000|0.093000	0.17368|0.17368	-0.136000|-0.136000	0.14681|0.14681	GCA|CAC	RALGAPA2	-	NULL	ENSG00000188559		0.488	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	308	0.00	0	G	NM_020343		20571928	20571928	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	missense	204	14.81	36	SNP	0.000	A
RALGAPB	57148	genome.wustl.edu	37	20	37126021	37126021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:37126021C>T	ENST00000262879.6	+	4	699	c.415C>T	c.(415-417)Cga>Tga	p.R139*	RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.R139*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.R139*|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.R139*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	139					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGTCAGATTCGACTATGCTT	0.493																																						dbGAP											0													125.0	106.0	112.0					20																	37126021		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.415C>T	20.37:g.37126021C>T	ENSP00000262879:p.Arg139*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.R139*	ENST00000262879.6	37	c.415	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.256463	0.97417	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	5.23	4.23	0.50019	.	0.053173	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.5464	0.56201	0.2556:0.7444:0.0:0.0	.	.	.	.	X	139	.	ENSP00000262879:R139X	R	+	1	2	RALGAPB	36559435	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	2.893000	0.48633	2.427000	0.82271	0.585000	0.79938	CGA	RALGAPB	-	NULL	ENSG00000170471		0.493	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	193	0.00	0	C	NM_020336		37126021	37126021	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	nonsense	160	11.60	21	SNP	1.000	T
RALGAPB	57148	genome.wustl.edu	37	20	37154118	37154118	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:37154118C>A	ENST00000262879.6	+	12	2143	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y	RALGAPB_ENST00000397042.3_Missense_Mutation_p.S620Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S620Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S398Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	620					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATCCTGCTTTCTTTGTTGCCC	0.308																																						dbGAP											0													137.0	139.0	138.0					20																	37154118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1859C>A	20.37:g.37154118C>A	ENSP00000262879:p.Ser620Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S620Y	ENST00000262879.6	37	c.1859	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	34	5.305441	0.95601	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.66280	-0.2;-0.2	5.79	5.79	0.91817	.	0.050094	0.85682	D	0.000000	T	0.75539	0.3863	M	0.67700	2.07	0.80722	D	1	D;D;D;D	0.58620	0.983;0.965;0.965;0.965	P;P;P;P	0.56700	0.804;0.804;0.804;0.804	T	0.77213	-0.2670	10	0.87932	D	0	.	20.0308	0.97536	0.0:1.0:0.0:0.0	.	448;620;620;620	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	Y	620;620;620;398;620;448	ENSP00000262879:S620Y;ENSP00000380233:S620Y	ENSP00000262879:S620Y	S	+	2	0	RALGAPB	36587532	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.732000	0.93576	0.585000	0.79938	TCT	RALGAPB	-	superfamily_ARM-type_fold	ENSG00000170471		0.308	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	684	0.00	0	C	NM_020336		37154118	37154118	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	575	11.94	78	SNP	1.000	A
RALGAPB	57148	genome.wustl.edu	37	20	37174915	37174915	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:37174915C>T	ENST00000262879.6	+	19	3028	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.S911L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.S915L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.S693L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	915					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GCATTTCCTTCACCTAGTGGT	0.418																																						dbGAP											0													118.0	108.0	111.0					20																	37174915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2744C>T	20.37:g.37174915C>T	ENSP00000262879:p.Ser915Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S915L	ENST00000262879.6	37	c.2744	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163237	0.78226	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	4.92	4.92	0.64577	.	0.066065	0.64402	D	0.000006	T	0.58264	0.2110	L	0.43923	1.385	0.80722	D	1	B;B;B;B	0.22683	0.034;0.073;0.034;0.034	B;B;B;B	0.25291	0.059;0.059;0.059;0.059	T	0.56872	-0.7907	9	0.46703	T	0.11	.	18.1076	0.89525	0.0:1.0:0.0:0.0	.	743;915;911;915	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	915;911;915;693;915;743	.	ENSP00000262879:S915L	S	+	2	0	RALGAPB	36608329	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.487000	0.81328	2.287000	0.76781	0.313000	0.20887	TCA	RALGAPB	-	NULL	ENSG00000170471		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	203	0.00	0	C	NM_020336		37174915	37174915	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	missense	167	13.47	26	SNP	1.000	T
RANBP1	5902	genome.wustl.edu	37	22	20113872	20113872	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:20113872C>T	ENST00000331821.3	+	5	588	c.486C>T	c.(484-486)atC>atT	p.I162I	SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000430524.1_Silent_p.I72I|RANBP1_ENST00000402752.1_Silent_p.I162I	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	162	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					GGAAAGAGATCGAAGAGAGAG	0.473																																						dbGAP											0													68.0	67.0	68.0					22																	20113872		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.486C>T	22.37:g.20113872C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EY3	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.I162	ENST00000331821.3	37	c.486	CCDS13775.1	22																																																																																			RANBP1	-	pfscan_Ran_bind_dom	ENSG00000099901		0.473	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP1	HGNC	protein_coding	OTTHUMT00000343733.1	50	0.00	0	C	NM_002882		20113872	20113872	+1	no_errors	ENST00000331821	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	0.030	T
RANBP2	5903	genome.wustl.edu	37	2	109381329	109381329	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:109381329A>G	ENST00000283195.6	+	20	4460	c.4334A>G	c.(4333-4335)aAc>aGc	p.N1445S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1445					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATCTGCTAACAAAAGTGGA	0.353																																						dbGAP											0													85.0	83.0	83.0					2																	109381329		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4334A>G	2.37:g.109381329A>G	ENSP00000283195:p.Asn1445Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.N1445S	ENST00000283195.6	37	c.4334	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	A	1.821	-0.472184	0.04445	.	.	ENSG00000153201	ENST00000283195	T	0.26957	1.7	5.33	-1.09	0.09904	.	.	.	.	.	T	0.09468	0.0233	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36792	-0.9733	9	0.05833	T	0.94	-3.8129	10.7297	0.46089	0.5559:0.0:0.4441:0.0	.	1445	P49792	RBP2_HUMAN	S	1445	ENSP00000283195:N1445S	ENSP00000283195:N1445S	N	+	2	0	RANBP2	108747761	0.958000	0.32768	0.878000	0.34440	0.999000	0.98932	0.569000	0.23638	0.014000	0.14944	0.533000	0.62120	AAC	RANBP2	-	NULL	ENSG00000153201		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	121	0.00	0	A	NM_006267		109381329	109381329	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	missense	78	24.27	25	SNP	0.085	G
RANBP2	5903	genome.wustl.edu	37	2	109388956	109388956	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:109388956G>A	ENST00000283195.6	+	22	8158	c.8032G>A	c.(8032-8034)Gaa>Aaa	p.E2678K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2678	2 X 50 AA approximate repeats.|Interaction with UBE2I.|Required for E3 SUMO-ligase activity.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGAAGATTTCGAAACAGCTGT	0.348																																						dbGAP											0													55.0	62.0	59.0					2																	109388956		2202	4297	6499	-	-	-	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8032G>A	2.37:g.109388956G>A	ENSP00000283195:p.Glu2678Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.E2678K	ENST00000283195.6	37	c.8032	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.129977	0.94473	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.37411	1.2	5.15	5.15	0.70609	Nup358/RanBP2 E3 ligase domain (1);	.	.	.	.	T	0.46600	0.1401	L	0.53249	1.67	0.34855	D	0.742046	D	0.63046	0.992	P	0.52554	0.702	T	0.56220	-0.8015	9	0.45353	T	0.12	-4.5621	15.8287	0.78733	0.0:0.0:1.0:0.0	.	2678	P49792	RBP2_HUMAN	K	1702;2678	ENSP00000283195:E2678K	ENSP00000283195:E2678K	E	+	1	0	RANBP2	108755388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.258000	0.78371	2.833000	0.97629	0.585000	0.79938	GAA	RANBP2	-	pfam_IR1-M	ENSG00000153201		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	178	0.00	0	G	NM_006267		109388956	109388956	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	missense	126	12.50	18	SNP	1.000	A
RANBP6	26953	genome.wustl.edu	37	9	6013269	6013269	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:6013269G>T	ENST00000259569.5	-	1	2349	c.2339C>A	c.(2338-2340)tCt>tAt	p.S780Y	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	780					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTTTGCAAAAGAATTCATTAT	0.403																																						dbGAP											0													88.0	94.0	92.0					9																	6013269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2339C>A	9.37:g.6013269G>T	ENSP00000259569:p.Ser780Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.S780Y	ENST00000259569.5	37	c.2339	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220598	0.58560	.	.	ENSG00000137040	ENST00000259569	T	0.12147	2.71	3.72	3.72	0.42706	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.38241	0.1033	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.985;0.999	D;D	0.67231	0.91;0.95	T	0.37079	-0.9721	10	0.72032	D	0.01	-9.3493	11.3164	0.49394	0.0:0.0:1.0:0.0	.	368;780	B4DTX6;O60518	.;RNBP6_HUMAN	Y	780	ENSP00000259569:S780Y	ENSP00000259569:S780Y	S	-	2	0	RANBP6	6003269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.370000	0.80446	0.555000	0.69702	TCT	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.403	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	43	0.00	0	G	NM_012416		6013269	6013269	-1	no_errors	ENST00000259569	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	T
RANBP6	26953	genome.wustl.edu	37	9	6013702	6013702	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:6013702C>T	ENST00000259569.5	-	1	1916	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	636					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAGAGGCTCGATAACCAGT	0.413																																						dbGAP											0													108.0	110.0	110.0					9																	6013702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1906G>A	9.37:g.6013702C>T	ENSP00000259569:p.Glu636Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E636K	ENST00000259569.5	37	c.1906	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142499	0.37825	.	.	ENSG00000137040	ENST00000259569	T	0.68903	-0.36	4.11	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.055231	0.64402	U	0.000001	T	0.51295	0.1666	N	0.25647	0.755	0.42064	D	0.991173	B;B	0.26318	0.084;0.146	B;B	0.14578	0.007;0.011	T	0.50980	-0.8763	10	0.31617	T	0.26	-9.5883	14.2719	0.66157	0.0:1.0:0.0:0.0	.	224;636	B4DTX6;O60518	.;RNBP6_HUMAN	K	636	ENSP00000259569:E636K	ENSP00000259569:E636K	E	-	1	0	RANBP6	6003702	1.000000	0.71417	0.991000	0.47740	0.906000	0.53458	5.675000	0.68123	2.293000	0.77203	0.650000	0.86243	GAG	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	44	0.00	0	C	NM_012416		6013702	6013702	-1	no_errors	ENST00000259569	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	T
RANBP9	10048	genome.wustl.edu	37	6	13641458	13641458	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:13641458C>A	ENST00000011619.3	-	8	1365	c.1307G>T	c.(1306-1308)aGa>aTa	p.R436I	RANBP9_ENST00000539980.1_Missense_Mutation_p.R207I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	436	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ATTAGGATTTCTTTCAAGTAA	0.284																																						dbGAP											0													143.0	138.0	140.0					6																	13641458		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.1307G>T	6.37:g.13641458C>A	ENSP00000011619:p.Arg436Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R436I	ENST00000011619.3	37	c.1307	CCDS4529.1	6	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967744	0.74131	.	.	ENSG00000010017	ENST00000011619;ENST00000539980	T	0.78481	-1.18	5.69	5.69	0.88448	CTLH, C-terminal LisH motif (2);	0.044140	0.85682	D	0.000000	D	0.84352	0.5453	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	D	0.63283	0.913	D	0.83720	0.0192	10	0.51188	T	0.08	-21.7901	19.8057	0.96531	0.0:1.0:0.0:0.0	.	436	Q96S59	RANB9_HUMAN	I	436;207	ENSP00000011619:R436I	ENSP00000011619:R436I	R	-	2	0	RANBP9	13749437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.219000	0.51200	2.677000	0.91161	0.650000	0.86243	AGA	RANBP9	-	smart_CTLH_C,pfscan_CTLH_C	ENSG00000010017		0.284	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP9	HGNC	protein_coding	OTTHUMT00000042373.1	579	0.00	0	C			13641458	13641458	-1	no_errors	ENST00000011619	ensembl	human	known	69_37n	missense	385	14.44	65	SNP	1.000	A
RAP1A	5906	genome.wustl.edu	37	1	112237962	112237962	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:112237962G>A	ENST00000369709.3	+	3	236		c.e3-1		RAP1A_ENST00000494982.1_Splice_Site|RAP1A_ENST00000436150.2_Splice_Site|RAP1A_ENST00000356415.1_Splice_Site|RAP1A_ENST00000545460.1_Splice_Site	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family						activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		TTTTCCCCCAGACAGTTCAGT	0.284																																						dbGAP											0													35.0	34.0	34.0					1																	112237962		2201	4293	6494	-	-	-	SO:0001630	splice_region_variant	0			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.58-1G>A	1.37:g.112237962G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P10113	Splice_Site	SNP	-	e2-1	ENST00000369709.3	37	c.58-1	CCDS840.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359305	0.82353	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2236	0.93808	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAP1A	112039485	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	9.476000	0.97823	2.692000	0.91855	0.650000	0.86243	.	RAP1A	-	-	ENSG00000116473		0.284	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1A	HGNC	protein_coding	OTTHUMT00000033071.1	354	0.00	0	G	NM_002884	Intron	112237962	112237962	+1	no_errors	ENST00000356415	ensembl	human	known	69_37n	splice_site	179	11.33	23	SNP	1.000	A
RAPGEF1	2889	genome.wustl.edu	37	9	134504000	134504000	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:134504000G>A	ENST00000372189.3	-	8	1025	c.902C>T	c.(901-903)gCt>gTt	p.A301V	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.A318V|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A319V	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	301					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCCACCACAGCCACTCGGGT	0.597																																						dbGAP											0													43.0	47.0	46.0					9																	134504000		1938	4135	6073	-	-	-	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.902C>T	9.37:g.134504000G>A	ENSP00000361263:p.Ala301Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A319V	ENST00000372189.3	37	c.956	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.304331	0.95601	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.41758	0.99;0.99;0.99	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.64997	1.995	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.59653	-0.7414	10	0.34782	T	0.22	.	17.2825	0.87132	0.0:0.0:1.0:0.0	.	318;301;319	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	V	301;318;195;301;319;281;227;318	ENSP00000361269:A318V;ENSP00000361263:A301V;ENSP00000361264:A319V	ENSP00000266110:A301V	A	-	2	0	RAPGEF1	133493821	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	9.042000	0.93793	2.310000	0.77875	0.462000	0.41574	GCT	RAPGEF1	-	NULL	ENSG00000107263		0.597	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	108	0.00	0	G	NM_005312		134504000	134504000	-1	no_errors	ENST00000372190	ensembl	human	known	69_37n	missense	70	18.60	16	SNP	0.999	A
RAPGEF2	9693	genome.wustl.edu	37	4	160243587	160243587	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:160243587C>T	ENST00000264431.4	+	4	878	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	153					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGATGGTGTTCGCAGTGGTGG	0.408																																						dbGAP											0													109.0	107.0	108.0					4																	160243587		2012	4194	6206	-	-	-	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.459C>T	4.37:g.160243587C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F153	ENST00000264431.4	37	c.459	CCDS43277.1	4																																																																																			RAPGEF2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000109756		0.408	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	284	0.00	0	C	NM_014247		160243587	160243587	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	silent	131	39.35	85	SNP	0.994	T
RAPGEF2	9693	genome.wustl.edu	37	4	160271394	160271394	+	Missense_Mutation	SNP	C	C	T	rs200253018	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:160271394C>T	ENST00000264431.4	+	20	3754	c.3335C>T	c.(3334-3336)tCg>tTg	p.S1112L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1112	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AATGCATCTTCGCAGCTTTCT	0.353													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15636	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													73.0	71.0	72.0					4																	160271394		1828	4079	5907	-	-	-	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3335C>T	4.37:g.160271394C>T	ENSP00000264431:p.Ser1112Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1112L	ENST00000264431.4	37	c.3335	CCDS43277.1	4	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	25.9|25.9	4.686302|4.686302	0.88639|0.88639	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.50548	.|0.74	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67363|0.67363	0.2885|0.2885	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.68281|0.68281	-0.5450|-0.5450	5|10	.|0.51188	.|T	.|0.08	.|.	18.634|18.634	0.91370|0.91370	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1112	.|Q9Y4G8	.|RPGF2_HUMAN	C|L	144|1112	.|ENSP00000264431:S1112L	.|ENSP00000264431:S1112L	R|S	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160490844|160490844	1.000000|1.000000	0.71417|0.71417	0.601000|0.601000	0.28877|0.28877	0.851000|0.851000	0.48451|0.48451	5.187000|5.187000	0.65087|0.65087	2.469000|2.469000	0.83416|0.83416	0.655000|0.655000	0.94253|0.94253	CGC|TCG	RAPGEF2	-	NULL	ENSG00000109756		0.353	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	143	0.00	0	C	NM_014247		160271394	160271394	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	missense	103	12.71	15	SNP	1.000	T
RAPGEF2	9693	genome.wustl.edu	37	4	160271430	160271430	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:160271430C>A	ENST00000264431.4	+	20	3790	c.3371C>A	c.(3370-3372)tCt>tAt	p.S1124Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1124	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCACAGAGTTCTCCAAGGAAA	0.343																																						dbGAP											0													69.0	65.0	66.0					4																	160271430		1821	4072	5893	-	-	-	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3371C>A	4.37:g.160271430C>A	ENSP00000264431:p.Ser1124Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1124Y	ENST00000264431.4	37	c.3371	CCDS43277.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.2|28.2|28.2	4.900077|4.900077|4.900077	0.92035|0.92035|0.92035	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000510253|ENST00000264431	.|.|T	.|.|0.42900	.|.|0.96	5.45|5.45|5.45	5.45|5.45|5.45	0.79879|0.79879|0.79879	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.56124|0.56124|0.56124	0.1964|0.1964|0.1964	M|M|M	0.64404|0.64404|0.64404	1.975|1.975|1.975	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.58620	.|.|0.983	.|.|P	.|.|0.52598	.|.|0.703	T|T|T	0.59112|0.59112|0.59112	-0.7515|-0.7515|-0.7515	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	.|.|.	19.6556|19.6556|19.6556	0.95837|0.95837|0.95837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1124	.|.|Q9Y4G8	.|.|RPGF2_HUMAN	L|I|Y	17|156|1124	.|.|ENSP00000264431:S1124Y	.|.|ENSP00000264431:S1124Y	F|L|S	+|+|+	3|1|2	2|0|0	RAPGEF2|RAPGEF2|RAPGEF2	160490880|160490880|160490880	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	7.041000|7.041000|7.041000	0.76558|0.76558|0.76558	2.725000|2.725000|2.725000	0.93324|0.93324|0.93324	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTC|TCT	RAPGEF2	-	NULL	ENSG00000109756		0.343	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	94	0.00	0	C	NM_014247		160271430	160271430	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	1.000	A
RAPGEF4	11069	genome.wustl.edu	37	2	173662285	173662285	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:173662285T>C	ENST00000397081.3	+	3	384	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.Y81H|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.Y81H	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	81					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AACAAACTGGTATGCTGTCCT	0.343																																						dbGAP											0													95.0	89.0	91.0					2																	173662285		1826	4079	5905	-	-	-	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.241T>C	2.37:g.173662285T>C	ENSP00000380271:p.Tyr81His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.Y81H	ENST00000397081.3	37	c.241	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728595	0.89390	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036	D;D;D	0.96073	-3.9;-3.9;-3.9	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.994;0.999	D	0.99357	1.0916	10	0.87932	D	0	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	81;81;81	E7EVE5;Q8WZA2;E9PB94	.;RPGF4_HUMAN;.	H	81	ENSP00000264111:Y81H;ENSP00000380271:Y81H;ENSP00000387104:Y81H	ENSP00000264111:Y81H	Y	+	1	0	RAPGEF4	173370531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.288000	0.76882	0.533000	0.62120	TAT	RAPGEF4	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000091428		0.343	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	390	0.00	0	T	NM_007023		173662285	173662285	+1	no_errors	ENST00000397081	ensembl	human	known	69_37n	missense	246	13.33	38	SNP	1.000	C
RAPGEF5	9771	genome.wustl.edu	37	7	22170702	22170702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:22170702C>A	ENST00000401957.2	-	14	1772	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	RAPGEF5_ENST00000344041.6_Nonsense_Mutation_p.E659*			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	509	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTATTTCCTTCATGAATAAAT	0.313																																						dbGAP											0													38.0	32.0	34.0					7																	22170702		1621	3705	5326	-	-	-	SO:0001587	stop_gained	0			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.1525G>T	7.37:g.22170702C>A	ENSP00000384044:p.Glu509*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D140|Q8IXU5	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E659*	ENST00000401957.2	37	c.1975		7	.	.	.	.	.	.	.	.	.	.	C	43	10.217720	0.99361	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1897	0.93660	0.0:1.0:0.0:0.0	.	.	.	.	X	659;511;373;509	.	ENSP00000258735:E373X	E	-	1	0	RAPGEF5	22137227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.143000	0.77348	2.548000	0.85928	0.655000	0.94253	GAA	RAPGEF5	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000136237		0.313	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326590.2	208	0.00	0	C	NM_012294		22170702	22170702	-1	no_errors	ENST00000344041	ensembl	human	known	69_37n	nonsense	106	21.48	29	SNP	1.000	A
RAPGEF5	9771	genome.wustl.edu	37	7	22190072	22190072	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:22190072C>A	ENST00000401957.2	-	8	1175	c.928G>T	c.(928-930)Gca>Tca	p.A310S	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A460S			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	310					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CGACCAGATGCCTCGAGGGAT	0.403																																						dbGAP											0													133.0	131.0	132.0					7																	22190072		1861	4092	5953	-	-	-	SO:0001583	missense	0			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.928G>T	7.37:g.22190072C>A	ENSP00000384044:p.Ala310Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D140|Q8IXU5	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A460S	ENST00000401957.2	37	c.1378		7	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034525	0.35893	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000401957	T;T	0.51817	1.19;0.69	5.62	3.68	0.42216	Ras guanine nucleotide exchange factor, domain (1);	0.486738	0.24014	N	0.042355	T	0.25680	0.0625	N	0.04959	-0.14	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.09377	0.001;0.004	T	0.18587	-1.0332	10	0.51188	T	0.08	.	10.067	0.42311	0.1622:0.522:0.3157:0.0	.	310;460	Q92565;A8MQ07	RPGF5_HUMAN;.	S	460;312;310	ENSP00000343656:A460S;ENSP00000384044:A310S	ENSP00000343656:A460S	A	-	1	0	RAPGEF5	22156597	0.001000	0.12720	0.860000	0.33809	0.992000	0.81027	0.136000	0.15974	1.485000	0.48380	0.650000	0.86243	GCA	RAPGEF5	-	superfamily_Ras_GEF_dom	ENSG00000136237		0.403	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326590.2	181	0.00	0	C	NM_012294		22190072	22190072	-1	no_errors	ENST00000344041	ensembl	human	known	69_37n	missense	149	12.28	21	SNP	0.022	A
RAPGEF5	9771	genome.wustl.edu	37	7	22259538	22259538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:22259538C>A	ENST00000405243.1	-	9	1026	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000344041.6_Nonsense_Mutation_p.E162*			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGATAGTTTTCTTTTGCCAGC	0.443																																						dbGAP											0													120.0	114.0	116.0					7																	22259538		1845	4094	5939	-	-	-	SO:0001587	stop_gained	0			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.943G>T	7.37:g.22259538C>A	ENSP00000384870:p.Glu315*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D140|Q8IXU5	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E162*	ENST00000405243.1	37	c.484		7	.	.	.	.	.	.	.	.	.	.	C	39	7.662012	0.98419	.	.	ENSG00000136237	ENST00000344041;ENST00000420196;ENST00000405243	.	.	.	5.69	5.69	0.88448	.	0.368596	0.27134	N	0.020770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7999	0.96502	0.0:1.0:0.0:0.0	.	.	.	.	X	162;43;315	.	ENSP00000343656:E162X	E	-	1	0	RAPGEF5	22226063	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.650000	0.67944	2.691000	0.91804	0.561000	0.74099	GAA	RAPGEF5	-	NULL	ENSG00000136237		0.443	RAPGEF5-002	PUTATIVE	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326591.1	405	0.00	0	C	NM_012294		22259538	22259538	-1	no_errors	ENST00000344041	ensembl	human	known	69_37n	nonsense	201	23.57	62	SNP	1.000	A
RAPGEF6	51735	genome.wustl.edu	37	5	130846055	130846055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:130846055G>A	ENST00000509018.1	-	8	962	c.757C>T	c.(757-759)Cga>Tga	p.R253*	RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.R253*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.R253*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.R303*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.R253*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.R253*|RAPGEF6_ENST00000512052.1_5'Flank|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.R253*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	253					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGACATTCTCGAACAAGATCT	0.378																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													105.0	100.0	101.0					5																	130846055		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.757C>T	5.37:g.130846055G>A	ENSP00000421684:p.Arg253*	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R253*	ENST00000509018.1	37	c.757	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.513164	0.96402	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000504575;ENST00000504039;ENST00000514667	.	.	.	5.33	4.43	0.53597	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1849	0.59675	0.0:0.0:0.7098:0.2902	.	.	.	.	X	253;253;253;253;253;253;253;81;106;106;303	.	ENSP00000426948:R303X	R	-	1	2	RAPGEF6;FNIP1	130873954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.818000	0.55678	1.337000	0.45525	0.563000	0.77884	CGA	RAPGEF6	-	NULL	ENSG00000158987		0.378	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	192	0.52	1	G	NM_016340		130846055	130846055	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	nonsense	109	31.45	50	SNP	1.000	A
RARB	5915	genome.wustl.edu	37	3	25542811	25542811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:25542811G>T	ENST00000404969.1	+	3	466	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	RARB_ENST00000458646.1_Nonsense_Mutation_p.E37*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Nonsense_Mutation_p.E37*|RARB_ENST00000330688.4_Nonsense_Mutation_p.E149*			P10826	RARB_HUMAN	retinoic acid receptor, beta	156	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGTCCAAAGAATGTAAGTG	0.413																																						dbGAP											0													90.0	89.0	90.0					3																	25542811		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.466G>T	3.37:g.25542811G>T	ENSP00000385865:p.Glu156*	Somatic		WXS	Illumina GAIIx	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.E156*	ENST00000404969.1	37	c.466		3	.	.	.	.	.	.	.	.	.	.	G	42	9.192596	0.99096	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	4.68	4.68	0.58851	.	0.366401	0.27744	N	0.018025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5994	0.88022	0.0:0.0:1.0:0.0	.	.	.	.	X	156;156;156;37;149;37	.	ENSP00000332296:E149X	E	+	1	0	RARB	25517815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.138000	0.66242	0.650000	0.86243	GAA	RARB	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000077092		0.413	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		162	0.00	0	G	NM_000965, NM_016152		25542811	25542811	+1	no_errors	ENST00000404969	ensembl	human	known	69_37n	nonsense	152	11.11	19	SNP	1.000	T
RASA2	5922	genome.wustl.edu	37	3	141292901	141292901	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:141292901G>T	ENST00000452898.1	+	14	1510	c.1475G>T	c.(1474-1476)aGa>aTa	p.R492I	RASA2_ENST00000286364.3_Missense_Mutation_p.R492I	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	492	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCTACTCAGAGATTTCCTAGT	0.303																																						dbGAP											0													79.0	78.0	78.0					3																	141292901		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1475G>T	3.37:g.141292901G>T	ENSP00000391677:p.Arg492Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R492I	ENST00000452898.1	37	c.1475		3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140272	0.56936	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.80566	-1.39;-1.39	5.66	1.84	0.25277	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.299976	0.34411	N	0.003992	D	0.85691	0.5755	M	0.66506	2.035	0.53688	D	0.999977	D;P;P;P	0.61080	0.989;0.94;0.927;0.94	D;P;P;P	0.71656	0.974;0.857;0.776;0.857	D	0.84117	0.0404	10	0.87932	D	0	.	8.7239	0.34458	0.3571:0.0:0.6429:0.0	.	84;492;492;492	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	I	492;492;84	ENSP00000286364:R492I;ENSP00000391677:R492I	ENSP00000286364:R492I	R	+	2	0	RASA2	142775591	0.983000	0.35010	0.971000	0.41717	0.994000	0.84299	2.030000	0.41108	0.317000	0.23160	0.561000	0.74099	AGA	RASA2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000155903		0.303	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		182	0.00	0	G	NM_006506		141292901	141292901	+1	no_errors	ENST00000452898	ensembl	human	known	69_37n	missense	102	35.44	56	SNP	1.000	T
RASA2	5922	genome.wustl.edu	37	3	141328315	141328315	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:141328315G>T	ENST00000452898.1	+	22	2317	c.2282G>T	c.(2281-2283)aGa>aTa	p.R761I	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000286364.3_Missense_Mutation_p.R760I	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	761					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GAAACAGAAAGAATTTATTCC	0.284																																						dbGAP											0													81.0	86.0	85.0					3																	141328315		2203	4291	6494	-	-	-	SO:0001583	missense	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2282G>T	3.37:g.141328315G>T	ENSP00000391677:p.Arg761Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R761I	ENST00000452898.1	37	c.2282		3	.	.	.	.	.	.	.	.	.	.	G	32	5.160862	0.94727	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.75154	-0.9;-0.91	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86248	0.1647	10	0.72032	D	0.01	.	19.4279	0.94751	0.0:0.0:1.0:0.0	.	761;761;760	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	I	760;761	ENSP00000286364:R760I;ENSP00000391677:R761I	ENSP00000286364:R760I	R	+	2	0	RASA2	142811005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.295000	0.78780	2.824000	0.97209	0.655000	0.94253	AGA	RASA2	-	NULL	ENSG00000155903		0.284	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		284	0.00	0	G	NM_006506		141328315	141328315	+1	no_errors	ENST00000452898	ensembl	human	known	69_37n	missense	219	13.78	35	SNP	1.000	T
RASEF	158158	genome.wustl.edu	37	9	85622385	85622385	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:85622385C>T	ENST00000376447.3	-	7	1255	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	332					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAGACTATTTCGATCTTCTGT	0.348																																						dbGAP											0													239.0	217.0	224.0					9																	85622385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.995G>A	9.37:g.85622385C>T	ENSP00000365630:p.Arg332Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_Vinculin/catenin,smart_EF_hand_Ca-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R332Q	ENST00000376447.3	37	c.995	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091807	0.55968	.	.	ENSG00000165105	ENST00000376447	T	0.61158	0.13	5.79	3.97	0.46021	.	0.073678	0.53938	D	0.000042	T	0.45617	0.1351	L	0.45698	1.435	0.80722	D	1	P	0.39376	0.67	B	0.31547	0.132	T	0.36212	-0.9757	10	0.36615	T	0.2	.	12.0197	0.53336	0.0:0.8593:0.0:0.1407	.	332	Q8IZ41	RASEF_HUMAN	Q	332	ENSP00000365630:R332Q	ENSP00000365630:R332Q	R	-	2	0	RASEF	84812205	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.487000	0.60293	0.809000	0.34255	-0.140000	0.14226	CGA	RASEF	-	NULL	ENSG00000165105		0.348	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	700	0.00	0	C	NM_152573		85622385	85622385	-1	no_errors	ENST00000376447	ensembl	human	known	69_37n	missense	568	11.65	75	SNP	1.000	T
RASGRF1	5923	genome.wustl.edu	37	15	79282606	79282606	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:79282606G>A	ENST00000419573.3	-	23	3463	c.3189C>T	c.(3187-3189)ttC>ttT	p.F1063F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.F279F|RASGRF1_ENST00000558480.2_Silent_p.F1047F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1063	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCCTTGTCCGAAGAACTCCC	0.453																																						dbGAP											0													115.0	102.0	106.0					15																	79282606		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3189C>T	15.37:g.79282606G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F1063	ENST00000419573.3	37	c.3189	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000058335		0.453	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	267	0.00	0	G	NM_002891		79282606	79282606	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	silent	288	11.62	38	SNP	0.990	A
RASGRF1	5923	genome.wustl.edu	37	15	79317728	79317728	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:79317728T>C	ENST00000419573.3	-	10	1744	c.1470A>G	c.(1468-1470)cgA>cgG	p.R490R	RASGRF1_ENST00000558480.2_Silent_p.R490R|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	490	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAAGCACTGTCGCTCGCCCT	0.562																																						dbGAP											0													79.0	77.0	78.0					15																	79317728		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1470A>G	15.37:g.79317728T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R490	ENST00000419573.3	37	c.1470	CCDS10309.1	15																																																																																			RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	169	0.00	0	T	NM_002891		79317728	79317728	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	silent	173	11.17	22	SNP	0.368	C
RASGRF2	5924	genome.wustl.edu	37	5	80521576	80521576	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:80521576G>A	ENST00000265080.4	+	27	3768	c.3701G>A	c.(3700-3702)cGa>cAa	p.R1234Q	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1234	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)		ATTGAACCTCGACTCCCTGCT	0.468																																						dbGAP											0													112.0	98.0	103.0					5																	80521576		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.3701G>A	5.37:g.80521576G>A	ENSP00000265080:p.Arg1234Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R1234Q	ENST00000265080.4	37	c.3701	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521159	0.85600	.	.	ENSG00000113319	ENST00000265080	T	0.36157	1.27	5.22	5.22	0.72569	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.88450	2.955	0.58432	D	0.999992	D	0.89917	1.0	D	0.66497	0.944	T	0.74478	-0.3652	10	0.87932	D	0	.	18.7718	0.91894	0.0:0.0:1.0:0.0	.	1234	O14827	RGRF2_HUMAN	Q	1234	ENSP00000265080:R1234Q	ENSP00000265080:R1234Q	R	+	2	0	RASGRF2	80557332	1.000000	0.71417	0.999000	0.59377	0.265000	0.26407	5.421000	0.66447	2.433000	0.82419	0.650000	0.86243	CGA	RASGRF2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000113319		0.468	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	100	0.00	0	G	NM_006909		80521576	80521576	+1	no_errors	ENST00000265080	ensembl	human	known	69_37n	missense	83	13.54	13	SNP	1.000	A
RASGRP3	25780	genome.wustl.edu	37	2	33774812	33774812	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:33774812G>A	ENST00000403687.3	+	14	2276	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	RASGRP3_ENST00000407811.1_Silent_p.A511A|RASGRP3_ENST00000402538.3_Silent_p.A512A	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	512					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.A512A(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AACACTGTGCGGGATTTGTAA	0.378																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											171.0	149.0	156.0					2																	33774812		1872	4102	5974	-	-	-	SO:0001819	synonymous_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1536G>A	2.37:g.33774812G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.A512	ENST00000403687.3	37	c.1536	CCDS46256.1	2																																																																																			RASGRP3	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000152689		0.378	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	603	0.00	0	G	NM_015376		33774812	33774812	+1	no_errors	ENST00000402538	ensembl	human	known	69_37n	silent	523	14.63	90	SNP	0.961	A
RASL11A	387496	genome.wustl.edu	37	13	27845770	27845770	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:27845770C>A	ENST00000480803.1	+	0	48				RASL11A_ENST00000241463.4_Intron					RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CTACTTCATTCTCCAGGCAAG	0.502											OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													96.0	96.0	96.0					13																	27845770		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000480803.1:c.*45C>A	13.37:g.27845770C>A		Somatic	797	WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000480803.1	37	NULL		13																																																																																			RASL11A	-	-	ENSG00000122035		0.502	RASL11A-003	KNOWN	basic	processed_transcript	RASL11A	HGNC	protein_coding	OTTHUMT00000044267.1	107	0.00	0	C	NM_206827		27845770	27845770	+1	no_errors	ENST00000480803	ensembl	human	known	69_37n	rna	46	19.30	11	SNP	0.058	A
RASSF5	83593	genome.wustl.edu	37	1	206758592	206758592	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:206758592T>G	ENST00000355294.4	+	5	1126	c.1069T>G	c.(1069-1071)Ttt>Gtt	p.F357V	EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.F204V	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	357	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTCCTCAGCTTTGTGCTAAA	0.577																																					GBM(162;656 1984 11916 22872 31529)	dbGAP											0													164.0	167.0	166.0					1																	206758592		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1069T>G	1.37:g.206758592T>G	ENSP00000347443:p.Phe357Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.F357V	ENST00000355294.4	37	c.1069	CCDS30998.1	1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.014446	0.93404	.	.	ENSG00000136653	ENST00000355294;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T	0.33438	1.41;1.41;1.41	6.02	6.02	0.97574	Ras-association (3);	0.049326	0.85682	D	0.000000	T	0.54806	0.1881	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.989;0.997;0.997	T	0.54662	-0.8260	10	0.52906	T	0.07	-0.9506	15.7258	0.77756	0.0:0.0:0.0:1.0	.	355;204;357	E9PDW5;Q8WWW0-2;Q8WWW0	.;.;RASF5_HUMAN	V	357;357;357;204	ENSP00000347443:F357V;ENSP00000342620:F357V;ENSP00000306091:F204V	ENSP00000306091:F204V	F	+	1	0	RASSF5	204825215	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	TTT	RASSF5	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000136653		0.577	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	249	0.00	0	T	NM_031437		206758592	206758592	+1	no_errors	ENST00000355294	ensembl	human	known	69_37n	missense	172	13.57	27	SNP	1.000	G
RB1	5925	genome.wustl.edu	37	13	48939108	48939108	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:48939108G>A	ENST00000267163.4	+	9	1077		c.e9+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTCCAGAGGTAATCTGAAA	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											19.0	18.0	18.0					13																	48939108		2123	4234	6357	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.939+1G>A	13.37:g.48939108G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	-	e9+1	ENST00000267163.4	37	c.939+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165514	0.78339	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2315	0.89936	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47837109	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.662000	0.74426	2.657000	0.90304	0.655000	0.94253	.	RB1	-	-	ENSG00000139687		0.284	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	123	0.00	0	G		Intron	48939108	48939108	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	splice_site	59	29.76	25	SNP	1.000	A
RB1CC1	9821	genome.wustl.edu	37	8	53568961	53568961	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:53568961C>A	ENST00000025008.5	-	15	3951	c.3428G>T	c.(3427-3429)aGa>aTa	p.R1143I	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1143I|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1143I	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1143					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.R1143T(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCTTCATGTCTACTAATTAA	0.284																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											48.0	49.0	48.0					8																	53568961		2199	4296	6495	-	-	-	SO:0001583	missense	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3428G>T	8.37:g.53568961C>A	ENSP00000025008:p.Arg1143Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.R1143I	ENST00000025008.5	37	c.3428	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663821	0.67700	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.22134	1.97;1.97;1.97	5.14	5.14	0.70334	.	0.047747	0.85682	D	0.000000	T	0.37892	0.1020	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.66979	0.948;0.888	T	0.12993	-1.0526	10	0.66056	D	0.02	-18.4964	18.9627	0.92682	0.0:1.0:0.0:0.0	.	1143;1143	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	I	1143	ENSP00000025008:R1143I;ENSP00000396067:R1143I;ENSP00000445960:R1143I	ENSP00000025008:R1143I	R	-	2	0	RB1CC1	53731514	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.367000	0.59498	2.556000	0.86216	0.650000	0.86243	AGA	RB1CC1	-	NULL	ENSG00000023287		0.284	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	104	0.00	0	C	NM_014781		53568961	53568961	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	missense	93	12.26	13	SNP	1.000	A
RBBP7	5931	genome.wustl.edu	37	X	16863181	16863181	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:16863181C>T	ENST00000380087.2	-	12	1615	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	RBBP7_ENST00000380084.4_Missense_Mutation_p.E463K|RBBP7_ENST00000404022.1_Missense_Mutation_p.E410K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	419					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CCCTCCAGTTCGGATGTCGTG	0.378																																						dbGAP											0													161.0	128.0	139.0					X																	16863181		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1255G>A	X.37:g.16863181C>T	ENSP00000369427:p.Glu419Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JP00	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E419K	ENST00000380087.2	37	c.1255	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344020	0.61073	.	.	ENSG00000102054	ENST00000425696;ENST00000380087;ENST00000380084;ENST00000404022	T;T;T	0.73047	-0.5;-0.71;-0.56	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.89414	3.03	0.58432	D	0.999995	B;P;P	0.43750	0.308;0.5;0.816	B;B;B	0.29440	0.047;0.102;0.085	T	0.80933	-0.1161	10	0.72032	D	0.01	-21.6668	17.9851	0.89153	0.0:1.0:0.0:0.0	.	410;419;463	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	79;419;463;410	ENSP00000369427:E419K;ENSP00000369424:E463K;ENSP00000386068:E410K	ENSP00000369424:E463K	E	-	1	0	RBBP7	16773102	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.147000	0.77382	2.555000	0.86185	0.513000	0.50165	GAA	RBBP7	-	NULL	ENSG00000102054		0.378	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	HGNC	protein_coding	OTTHUMT00000055920.2	453	0.00	0	C	NM_002893		16863181	16863181	-1	no_errors	ENST00000380087	ensembl	human	known	69_37n	missense	270	14.01	44	SNP	1.000	T
RBBP7	5931	genome.wustl.edu	37	X	16887272	16887272	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:16887272G>T	ENST00000380087.2	-	2	448	c.88C>A	c.(88-90)Cta>Ata	p.L30I	RBBP7_ENST00000380084.4_Missense_Mutation_p.L74I|RBBP7_ENST00000404022.1_Missense_Mutation_p.L30I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	30					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AGGTCATATAGAAACGGTGTA	0.413																																						dbGAP											0													127.0	113.0	118.0					X																	16887272		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.88C>A	X.37:g.16887272G>T	ENSP00000369427:p.Leu30Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JP00	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L30I	ENST00000380087.2	37	c.88	CCDS14179.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964848	0.74131	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000493145	T;T;T	0.76448	-0.78;-1.02;-0.88	5.51	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	H	0.94698	3.57	0.50039	D	0.999847	D;P;P	0.52996	0.957;0.885;0.885	D;P;D	0.63703	0.917;0.863;0.914	D	0.89616	0.3845	10	0.87932	D	0	-30.0149	9.016	0.36170	0.2666:0.0:0.7334:0.0	.	30;30;74	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	I	30;74;30;27	ENSP00000369427:L30I;ENSP00000369424:L74I;ENSP00000386068:L30I	ENSP00000369424:L74I	L	-	1	2	RBBP7	16797193	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.361000	0.44160	1.083000	0.41159	0.594000	0.82650	CTA	RBBP7	-	pfam_Histone-bd_RBBP4	ENSG00000102054		0.413	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	HGNC	protein_coding	OTTHUMT00000055920.2	165	0.00	0	G	NM_002893		16887272	16887272	-1	no_errors	ENST00000380087	ensembl	human	known	69_37n	missense	86	14.00	14	SNP	1.000	T
RBBP8	5932	genome.wustl.edu	37	18	20562314	20562314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:20562314G>T	ENST00000399722.2	+	7	913	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	RBBP8_ENST00000327155.5_Nonsense_Mutation_p.E188*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.E188*|RBBP8_ENST00000360790.5_Nonsense_Mutation_p.E188*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	188					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCGATACATAGAACAAACACA	0.413								Homologous recombination																														dbGAP											0													182.0	167.0	172.0					18																	20562314		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.562G>T	18.37:g.20562314G>T	ENSP00000382628:p.Glu188*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.E188*	ENST00000399722.2	37	c.562	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023587	0.93462	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	.	.	.	5.78	3.97	0.46021	.	0.143087	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.7116	8.9601	0.35842	0.0792:0.1484:0.7723:0.0	.	.	.	.	X	188	.	ENSP00000323050:E188X	E	+	1	0	RBBP8	18816312	1.000000	0.71417	0.373000	0.26003	0.063000	0.16089	5.353000	0.66034	0.769000	0.33313	-0.266000	0.10368	GAA	RBBP8	-	NULL	ENSG00000101773		0.413	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	326	0.31	1	G	NM_203291		20562314	20562314	+1	no_errors	ENST00000327155	ensembl	human	known	69_37n	nonsense	250	13.79	40	SNP	0.811	T
RBM10	8241	genome.wustl.edu	37	X	47028799	47028799	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47028799G>A	ENST00000377604.3	+	3	845	c.103G>A	c.(103-105)Gac>Aac	p.D35N	RBM10_ENST00000329236.7_Missense_Mutation_p.D35N|RBM10_ENST00000345781.6_Missense_Mutation_p.D35N	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	35					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGACCACGACTACCGGGA	0.592																																					Melanoma(171;120 2705 19495 39241)	dbGAP											0													101.0	67.0	79.0					X																	47028799		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.103G>A	X.37:g.47028799G>A	ENSP00000366829:p.Asp35Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.D35N	ENST00000377604.3	37	c.103	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956923	0.73902	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20332	2.77;2.08;2.34	4.62	4.62	0.57501	.	3.273910	0.00827	N	0.001620	T	0.39410	0.1077	L	0.27053	0.805	0.36821	D	0.886381	D;D;D;D;D	0.89917	0.972;0.999;0.999;1.0;0.999	B;P;P;D;D	0.83275	0.425;0.788;0.895;0.996;0.985	T	0.04386	-1.0955	10	0.48119	T	0.1	-22.7118	12.3353	0.55062	0.0:0.0:1.0:0.0	.	35;100;35;35;35	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	N	35	ENSP00000366829:D35N;ENSP00000328848:D35N;ENSP00000329659:D35N	ENSP00000328848:D35N	D	+	1	0	RBM10	46913743	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	5.541000	0.67212	2.049000	0.60858	0.436000	0.28706	GAC	RBM10	-	NULL	ENSG00000182872		0.592	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	454	0.00	0	G	NM_005676		47028799	47028799	+1	no_errors	ENST00000377604	ensembl	human	known	69_37n	missense	252	14.58	43	SNP	1.000	A
RBM12	10137	genome.wustl.edu	37	20	34241693	34241693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:34241693G>A	ENST00000374114.3	-	3	1815	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	RBM12_ENST00000359646.1_Nonsense_Mutation_p.R518*|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Nonsense_Mutation_p.R518*|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317677.5_5'Flank	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	518						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R518*(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGTCTTTTTCGAATCATATCT	0.398																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											179.0	174.0	175.0					20																	34241693		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1552C>T	20.37:g.34241693G>A	ENSP00000363228:p.Arg518*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R518*	ENST00000374114.3	37	c.1552	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.676604	0.96764	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	.	.	.	4.64	2.59	0.31030	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5429	12.819	0.57681	0.0:0.0:0.6381:0.3619	.	.	.	.	X	518;518;518;317	.	ENSP00000339879:R317X	R	-	1	2	RBM12	33705107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.077000	0.57598	0.459000	0.27016	0.561000	0.74099	CGA	RBM12	-	NULL	ENSG00000244462		0.398	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	93	0.00	0	G	NM_006047		34241693	34241693	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	nonsense	60	22.08	17	SNP	1.000	A
RBM12B	389677	genome.wustl.edu	37	8	94745982	94745982	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:94745982A>G	ENST00000399300.2	-	3	2870	c.2657T>C	c.(2656-2658)gTg>gCg	p.V886A	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.V766A|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	886							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACCAAAATTCACAAAAGGGCG	0.448																																						dbGAP											0													158.0	161.0	160.0					8																	94745982		1800	4068	5868	-	-	-	SO:0001583	missense	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2657T>C	8.37:g.94745982A>G	ENSP00000382239:p.Val886Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V886A	ENST00000399300.2	37	c.2657	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343612	0.41498	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06768	3.26;3.28	5.83	3.41	0.39046	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.23043	N	0.998388	B	0.02656	0.0	B	0.04013	0.001	T	0.46148	-0.9212	9	0.17832	T	0.49	2.7294	6.7051	0.23246	0.7346:0.1299:0.1354:0.0	.	886	Q8IXT5	RB12B_HUMAN	A	886;766	ENSP00000382239:V886A;ENSP00000427729:V766A	ENSP00000382239:V886A	V	-	2	0	RBM12B	94815158	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.814000	0.38972	0.447000	0.26695	0.460000	0.39030	GTG	RBM12B	-	NULL	ENSG00000183808		0.448	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	94	0.00	0	A	NM_203390		94745982	94745982	-1	no_errors	ENST00000399300	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	0.997	G
RBM20	282996	genome.wustl.edu	37	10	112581648	112581648	+	Missense_Mutation	SNP	G	G	A	rs565524160		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:112581648G>A	ENST00000369519.3	+	11	3329	c.3271G>A	c.(3271-3273)Gaa>Aaa	p.E1091K		NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1091					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CCCCCCCATCGAAACTGACCT	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16688	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	42.0	41.0					10																	112581648		692	1591	2283	-	-	-	SO:0001583	missense	0			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3271G>A	10.37:g.112581648G>A	ENSP00000358532:p.Glu1091Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E1091K	ENST00000369519.3	37	c.3271	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786130	0.31593	.	.	ENSG00000203867	ENST00000369519;ENST00000539821	T	0.73789	-0.78	5.93	5.93	0.95920	.	0.079952	0.46145	D	0.000311	T	0.65811	0.2727	L	0.52573	1.65	0.36862	D	0.88847	P	0.45428	0.858	B	0.28139	0.086	T	0.74612	-0.3607	10	0.46703	T	0.11	-6.7507	18.5243	0.90965	0.0:0.0:1.0:0.0	.	1091	Q5T481	RBM20_HUMAN	K	1091	ENSP00000358532:E1091K	ENSP00000358532:E1091K	E	+	1	0	RBM20	112571638	0.998000	0.40836	0.111000	0.21465	0.033000	0.12548	6.575000	0.74018	2.815000	0.96918	0.561000	0.74099	GAA	RBM20	-	NULL	ENSG00000203867		0.587	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	125	0.00	0	G	NM_001134363		112581648	112581648	+1	no_errors	ENST00000369519	ensembl	human	known	69_37n	missense	62	36.36	36	SNP	0.806	A
RBM24	221662	genome.wustl.edu	37	6	17283087	17283087	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:17283087C>T	ENST00000379052.5	+	2	456	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	RBM24_ENST00000318204.5_Missense_Mutation_p.P29S|RBM24_ENST00000425446.2_Missense_Mutation_p.P16S	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	74	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GGATCCCAATCCCATCATTGA	0.507																																						dbGAP											0													120.0	98.0	105.0					6																	17283087		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.220C>T	6.37:g.17283087C>T	ENSP00000368341:p.Pro74Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P74S	ENST00000379052.5	37	c.220	CCDS47378.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.059059	0.93846	.	.	ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204	D;T;T;T	0.85339	-1.97;3.16;-0.14;3.47	4.83	4.83	0.62350	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.80374	0.4611	N	0.03324	-0.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87987	0.2747	10	0.87932	D	0	-15.938	17.9271	0.88987	0.0:1.0:0.0:0.0	.	29;74;74	Q9BX46-2;Q9BX46;A8KAI7	.;RBM24_HUMAN;.	S	74;33;16;29	ENSP00000368341:P74S;ENSP00000426222:P33S;ENSP00000396898:P16S;ENSP00000319551:P29S	ENSP00000319551:P29S	P	+	1	0	RBM24	17391066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.614000	0.82996	2.227000	0.72691	0.655000	0.94253	CCC	RBM24	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000112183		0.507	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM24	HGNC	protein_coding	OTTHUMT00000039946.2	107	0.00	0	C	NM_153020		17283087	17283087	+1	no_errors	ENST00000379052	ensembl	human	known	69_37n	missense	73	29.81	31	SNP	1.000	T
RBM25	58517	genome.wustl.edu	37	14	73574558	73574558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:73574558G>T	ENST00000261973.7	+	13	1777	c.1492G>T	c.(1492-1494)Gaa>Taa	p.E498*	RBM25_ENST00000527432.1_Nonsense_Mutation_p.E498*|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	498	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ACGACTAAAAGAATTCTTAGA	0.318																																						dbGAP											0													191.0	209.0	203.0					14																	73574558		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1492G>T	14.37:g.73574558G>T	ENSP00000261973:p.Glu498*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Nonsense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.E498*	ENST00000261973.7	37	c.1492	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.385194	0.98789	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	.	.	.	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.8078	0.78527	0.0:0.0:0.863:0.137	.	.	.	.	X	498	.	ENSP00000261973:E498X	E	+	1	0	RBM25	72644311	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.860000	0.99555	1.317000	0.45149	0.467000	0.42956	GAA	RBM25	-	NULL	ENSG00000119707		0.318	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	445	0.22	1	G	XM_027330		73574558	73574558	+1	no_errors	ENST00000261973	ensembl	human	known	69_37n	nonsense	375	23.16	113	SNP	1.000	T
RBM26	64062	genome.wustl.edu	37	13	79929469	79929469	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:79929469G>A	ENST00000438737.2	-	12	2180	c.1740C>T	c.(1738-1740)taC>taT	p.Y580Y	RBM26_ENST00000438724.1_Silent_p.Y580Y|RBM26_ENST00000267229.7_Silent_p.Y580Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	580	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCTTCTTCGTATGTTGCAA	0.358																																						dbGAP											0													195.0	180.0	185.0					13																	79929469		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1740C>T	13.37:g.79929469G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Y580	ENST00000438737.2	37	c.1740		13																																																																																			RBM26	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000139746		0.358	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	1070	0.00	0	G	NM_022118		79929469	79929469	-1	no_errors	ENST00000327303	ensembl	human	known	69_37n	silent	510	27.38	193	SNP	0.997	A
RBM27	54439	genome.wustl.edu	37	5	145641282	145641282	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:145641282G>A	ENST00000265271.5	+	13	2269	c.2103G>A	c.(2101-2103)caG>caA	p.Q701Q	RBM27_ENST00000506502.1_Silent_p.Q646Q	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	701	Gln-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCACAGCAGCACCATCACC	0.517																																						dbGAP											0													78.0	74.0	75.0					5																	145641282		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2103G>A	5.37:g.145641282G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYW9	Silent	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q701	ENST00000265271.5	37	c.2103	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.517	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	52	0.00	0	G	XM_291128		145641282	145641282	+1	no_errors	ENST00000265271	ensembl	human	known	69_37n	silent	40	28.57	16	SNP	0.987	A
RBM45	129831	genome.wustl.edu	37	2	178988302	178988302	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:178988302A>T	ENST00000286070.5	+	6	999	c.907A>T	c.(907-909)Aaa>Taa	p.K303*		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	305					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TGCAAAATACAAATTACATGG	0.378																																						dbGAP											0													96.0	94.0	94.0					2																	178988302		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.907A>T	2.37:g.178988302A>T	ENSP00000286070:p.Lys303*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NYL0|Q8NFC9	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K303*	ENST00000286070.5	37	c.907	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	A	37	6.140195	0.97320	.	.	ENSG00000155636	ENST00000286070	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0086	13.9331	0.64007	1.0:0.0:0.0:0.0	.	.	.	.	X	303	.	ENSP00000286070:K303X	K	+	1	0	RBM45	178696548	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.527000	0.90594	1.956000	0.56807	0.377000	0.23210	AAA	RBM45	-	smart_RRM_dom	ENSG00000155636		0.378	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	78	0.00	0	A	NM_152945		178988302	178988302	+1	no_errors	ENST00000286070	ensembl	human	known	69_37n	nonsense	86	19.63	21	SNP	1.000	T
RBM46	166863	genome.wustl.edu	37	4	155717951	155717951	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:155717951G>A	ENST00000281722.3	+	2	282	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	RBM46_ENST00000514866.1_Missense_Mutation_p.R16Q|RBM46_ENST00000510397.1_Missense_Mutation_p.R16Q	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	16							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGTAAAGTTCGAACTGGTATT	0.358																																						dbGAP											0													94.0	86.0	89.0					4																	155717951		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.47G>A	4.37:g.155717951G>A	ENSP00000281722:p.Arg16Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU8|B4DZ27	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R16Q	ENST00000281722.3	37	c.47	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397298	0.42512	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397;ENST00000512640	T;T;T;T	0.22336	2.4;2.41;2.54;1.96	5.71	5.71	0.89125	.	0.231640	0.38381	N	0.001708	T	0.09423	0.0232	N	0.14661	0.345	0.25390	N	0.988537	P;P;P	0.46784	0.516;0.884;0.758	B;B;B	0.32211	0.033;0.142;0.098	T	0.30880	-0.9963	10	0.11794	T	0.64	-8.255	13.4919	0.61399	0.0715:0.0:0.9285:0.0	.	16;16;16	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	Q	16	ENSP00000424500:R16Q;ENSP00000281722:R16Q;ENSP00000422813:R16Q;ENSP00000426672:R16Q	ENSP00000281722:R16Q	R	+	2	0	RBM46	155937401	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	3.348000	0.52209	2.873000	0.98535	0.644000	0.83932	CGA	RBM46	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000151962		0.358	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1	269	0.00	0	G	NM_144979		155717951	155717951	+1	no_errors	ENST00000281722	ensembl	human	known	69_37n	missense	180	13.04	27	SNP	0.997	A
RBM8A	9939	genome.wustl.edu	37	1	145509174	145509174	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:145509174G>A	ENST00000330165.8	+	6	557	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.R162Q|RP11-315I20.1_ENST00000598354.1_RNA|GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000595518.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	163					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGGTGGCCGAAGACGCAGC	0.502																																						dbGAP											0													79.0	77.0	78.0					1																	145509174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"""RNA binding motif (RRM) containing"""	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.488G>A	1.37:g.145509174G>A	ENSP00000333001:p.Arg163Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8	p.R163Q	ENST00000330165.8	37	c.488	CCDS916.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005883	0.74932	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.75050	-0.9;-0.9	4.41	4.41	0.53225	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	D	0.000002	T	0.78805	0.4341	L	0.58510	1.815	0.80722	D	1	D;D	0.61697	0.99;0.983	D;P	0.66847	0.947;0.885	T	0.80317	-0.1433	10	0.54805	T	0.06	-10.9017	14.5313	0.67929	0.0:0.0:1.0:0.0	.	162;163	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	Q	163;162	ENSP00000333001:R163Q;ENSP00000358313:R162Q	ENSP00000333001:R163Q	R	+	2	0	RBM8A	144220531	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.648000	0.74359	2.279000	0.76181	0.561000	0.74099	CGA	RBM8A	-	NULL	ENSG00000131795		0.502	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM8A	HGNC	protein_coding	OTTHUMT00000038503.2	555	0.00	0	G	NM_005105		145509174	145509174	+1	no_errors	ENST00000330165	ensembl	human	known	69_37n	missense	482	15.21	87	SNP	1.000	A
RBMS3	27303	genome.wustl.edu	37	3	29781331	29781331	+	Missense_Mutation	SNP	G	G	T	rs547027047		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:29781331G>T	ENST00000383767.2	+	5	856	c.520G>T	c.(520-522)Gac>Tac	p.D174Y	RBMS3_ENST00000445033.1_Missense_Mutation_p.D174Y|RBMS3_ENST00000452462.1_Missense_Mutation_p.D174Y|RBMS3_ENST00000434693.2_Missense_Mutation_p.D173Y|RBMS3_ENST00000383766.2_Missense_Mutation_p.D173Y|RBMS3_ENST00000273139.9_Missense_Mutation_p.D174Y|RBMS3_ENST00000456853.1_Missense_Mutation_p.D174Y|RBMS3_ENST00000396583.3_Missense_Mutation_p.D174Y			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AATACTAAGAGACGCTAATGG	0.388																																						dbGAP											0													133.0	131.0	132.0					3																	29781331		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.520G>T	3.37:g.29781331G>T	ENSP00000373277:p.Asp174Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom	p.D174Y	ENST00000383767.2	37	c.520	CCDS33724.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848300	0.91277	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000445033;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T;T	0.81330	-1.48;1.81;-1.48;-1.48;-1.48;1.81;-1.48;1.81	5.74	5.74	0.90152	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048605	0.85682	D	0.000000	D	0.93785	0.8013	H	0.97051	3.93	0.80722	D	1	P;P;D;D	0.89917	0.956;0.513;1.0;0.995	D;P;D;D	0.87578	0.933;0.841;0.998;0.988	D	0.95259	0.8367	9	.	.	.	.	19.9173	0.97066	0.0:0.0:1.0:0.0	.	174;174;173;174	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	Y	173;174;174;174;174;173;174;174	ENSP00000395592:D173Y;ENSP00000379828:D174Y;ENSP00000373277:D174Y;ENSP00000391934:D174Y;ENSP00000273139:D174Y;ENSP00000373276:D173Y;ENSP00000397926:D174Y;ENSP00000400519:D174Y	.	D	+	1	0	RBMS3	29756335	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	9.855000	0.99526	2.707000	0.92482	0.563000	0.77884	GAC	RBMS3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000144642		0.388	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	320	0.00	0	G	NM_001003792		29781331	29781331	+1	no_errors	ENST00000383767	ensembl	human	known	69_37n	missense	269	11.51	35	SNP	1.000	T
RBMX2	51634	genome.wustl.edu	37	X	129536314	129536314	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:129536314G>A	ENST00000305536.6	+	2	155	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RBMX2_ENST00000370947.1_Missense_Mutation_p.E31K|RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	31							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTGGCACTCCGAGTACAAGGA	0.547																																						dbGAP											0													37.0	37.0	37.0					X																	129536314		2002	4150	6152	-	-	-	SO:0001583	missense	0			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.91G>A	X.37:g.129536314G>A	ENSP00000339090:p.Glu31Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E31K	ENST00000305536.6	37	c.91	CCDS43993.1	X	.	.	.	.	.	.	.	.	.	.	g	15.08	2.726208	0.48833	.	.	ENSG00000134597	ENST00000305536;ENST00000538614;ENST00000370947	T;T	0.74106	-0.81;1.56	3.86	3.86	0.44501	Nucleotide-binding, alpha-beta plait (1);	0.063875	0.64402	D	0.000006	T	0.59459	0.2195	L	0.33293	1	0.43642	D	0.996049	B	0.33494	0.414	B	0.19666	0.026	T	0.62671	-0.6805	10	0.40728	T	0.16	.	12.8265	0.57723	0.0:0.0:1.0:0.0	.	31	Q9Y388	RBMX2_HUMAN	K	31	ENSP00000339090:E31K;ENSP00000359985:E31K	ENSP00000339090:E31K	E	+	1	0	RBMX2	129363995	1.000000	0.71417	0.934000	0.37439	0.993000	0.82548	6.600000	0.74132	2.183000	0.69458	0.579000	0.79373	GAG	RBMX2	-	NULL	ENSG00000134597		0.547	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	121	0.82	1	G	NM_016024		129536314	129536314	+1	no_errors	ENST00000305536	ensembl	human	known	69_37n	missense	52	32.47	25	SNP	0.996	A
RBMX2	51634	genome.wustl.edu	37	X	129543276	129543276	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:129543276T>G	ENST00000305536.6	+	4	283	c.219T>G	c.(217-219)acT>acG	p.T73T	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	73	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ACAAGAAAACTGGGAAATCCA	0.383																																						dbGAP											0													84.0	77.0	79.0					X																	129543276		1816	4074	5890	-	-	-	SO:0001819	synonymous_variant	0			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.219T>G	X.37:g.129543276T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T73	ENST00000305536.6	37	c.219	CCDS43993.1	X																																																																																			RBMX2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000134597		0.383	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	145	0.00	0	T	NM_016024		129543276	129543276	+1	no_errors	ENST00000305536	ensembl	human	known	69_37n	silent	104	14.75	18	SNP	0.998	G
RBMX	27316	genome.wustl.edu	37	X	135957681	135957681	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135957681C>T	ENST00000320676.7	-	6	759	c.605G>A	c.(604-606)cGt>cAt	p.R202H	RBMX_ENST00000565438.1_Missense_Mutation_p.R74H|RBMX_ENST00000562646.1_Missense_Mutation_p.R202H|RBMX_ENST00000570135.1_Missense_Mutation_p.R67H|RBMX_ENST00000431446.3_Missense_Mutation_p.V94I|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	202	Necessary for the association to nascent RNAPII transcripts and nuclear localization.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AACATCTCTACGAGAGGGCAG	0.378																																						dbGAP											0													74.0	72.0	73.0					X																	135957681		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.605G>A	X.37:g.135957681C>T	ENSP00000359645:p.Arg202His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R202H	ENST00000320676.7	37	c.605	CCDS14661.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.81|14.81	2.645367|2.645367	0.47258|0.47258	.|.	.|.	ENSG00000147274|ENSG00000147274	ENST00000320676;ENST00000449161|ENST00000431446	T|T	0.79033|0.05786	-1.23|3.39	5.6|5.6	4.75|4.75	0.60458|0.60458	RBM1CTR (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.05090|0.05090	0.0136|0.0136	.|.	.|.	.|.	0.58432|0.58432	D|D	0.99999|0.99999	B;B|B	0.26512|0.29671	0.151;0.004|0.254	B;B|B	0.31245|0.17098	0.126;0.005|0.017	T|T	0.45702|0.45702	-0.9243|-0.9243	8|7	.|.	.|.	.|.	.|.	14.144|14.144	0.65339|0.65339	0.0:0.926:0.0:0.074|0.0:0.926:0.0:0.074	.|.	202;189|94	P38159;Q8N8Y7|B4E3U4	HNRPG_HUMAN;.|.	H|I	202;189|94	ENSP00000359645:R202H|ENSP00000411989:V94I	.|.	R|V	-|-	2|1	0|0	RBMX|RBMX	135785347|135785347	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.434000|0.434000	0.31775|0.31775	7.445000|7.445000	0.80570|0.80570	1.264000|1.264000	0.44198|0.44198	-0.170000|-0.170000	0.13304|0.13304	CGT|GTA	RBMX	-	pfam_RBM1CTR	ENSG00000147274		0.378	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	227	0.00	0	C	NM_002139		135957681	135957681	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	missense	195	12.50	28	SNP	1.000	T
RBP1	5947	genome.wustl.edu	37	3	139257746	139257746	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:139257746G>A	ENST00000483943.2	-	2	315	c.315C>T	c.(313-315)atC>atT	p.I105I	RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Silent_p.I105I|RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000232219.2_Silent_p.I105I	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	43					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	CGTCCTGCACGATCTCTTTGT	0.537																																						dbGAP											0													217.0	180.0	193.0					3																	139257746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"""Fatty acid binding protein family"""	9919	protein-coding gene	gene with protein product		180260	"""retinol-binding protein 1, cellular"""			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.315C>T	3.37:g.139257746G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.I105	ENST00000483943.2	37	c.315	CCDS46925.1	3																																																																																			RBP1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000114115		0.537	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	RBP1	HGNC	protein_coding	OTTHUMT00000341497.2	206	0.00	0	G	NM_002899		139257746	139257746	-1	no_errors	ENST00000232219	ensembl	human	known	69_37n	silent	99	10.71	12	SNP	0.997	A
RBPJL	11317	genome.wustl.edu	37	20	43945334	43945334	+	Missense_Mutation	SNP	G	G	A	rs201762497	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43945334G>A	ENST00000343694.3	+	12	1361	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	RBPJL_ENST00000372741.3_Silent_p.A433A|RBPJL_ENST00000372743.1_Missense_Mutation_p.R429Q|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	430	IPT/TIG.			SPRS -> YGVEPAV (in Ref. 2; BAA86121/ BAA88232). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGAGCCCGCGGTCCCTGGTG	0.731																																						dbGAP											0													17.0	21.0	19.0					20																	43945334		2193	4273	6466	-	-	-	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1289G>A	20.37:g.43945334G>A	ENSP00000341243:p.Arg430Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.R430Q	ENST00000343694.3	37	c.1289	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367556	0.61513	.	.	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.16743	2.32;2.32	4.94	4.94	0.65067	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.077541	0.47093	D	0.000254	T	0.12050	0.0293	L	0.41236	1.265	0.30919	N	0.728252	P	0.36483	0.555	B	0.26770	0.073	T	0.11179	-1.0598	10	0.62326	D	0.03	-14.4681	9.1461	0.36933	0.106:0.0:0.894:0.0	.	430	Q9UBG7	RBPJL_HUMAN	Q	429;430	ENSP00000361828:R429Q;ENSP00000341243:R430Q	ENSP00000341243:R430Q	R	+	2	0	RBPJL	43378748	0.994000	0.37717	0.994000	0.49952	0.905000	0.53344	2.105000	0.41825	2.442000	0.82660	0.549000	0.68633	CGG	RBPJL	-	superfamily_Ig_E-set	ENSG00000124232		0.731	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	88	0.00	0	G	NM_014276		43945334	43945334	+1	no_errors	ENST00000343694	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.828	A
RC3H1	149041	genome.wustl.edu	37	1	173952756	173952756	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:173952756C>T	ENST00000367696.2	-	4	743	c.392G>A	c.(391-393)cGc>cAc	p.R131H	RC3H1_ENST00000367694.2_Missense_Mutation_p.R131H|RC3H1_ENST00000258349.4_Missense_Mutation_p.R131H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	131					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CTGCATTGGGCGACTCAGAAC	0.458																																						dbGAP											1	Substitution - Missense(1)	lung(1)											124.0	117.0	119.0					1																	173952756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.392G>A	1.37:g.173952756C>T	ENSP00000356669:p.Arg131His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R131H	ENST00000367696.2	37	c.392	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.382409	0.95967	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95622	-3.76;-3.76;-3.76	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.998;0.999	D	0.98516	1.0621	10	0.87932	D	0	-10.182	19.2792	0.94046	0.0:1.0:0.0:0.0	.	131;131;131;131	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	131	ENSP00000356669:R131H;ENSP00000258349:R131H;ENSP00000356667:R131H	ENSP00000258349:R131H	R	-	2	0	RC3H1	172219379	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.630000	0.89119	0.557000	0.71058	CGC	RC3H1	-	NULL	ENSG00000135870		0.458	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	275	0.00	0	C	NM_172071		173952756	173952756	-1	no_errors	ENST00000258349	ensembl	human	known	69_37n	missense	105	13.93	17	SNP	1.000	T
RCBTB2	1102	genome.wustl.edu	37	13	49073879	49073879	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:49073879G>A	ENST00000344532.3	-	13	1685	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	RCBTB2_ENST00000430805.2_Missense_Mutation_p.S426L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.S147L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	421	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTCCAATGACGAACGAAAATG	0.453																																						dbGAP											0													97.0	89.0	92.0					13																	49073879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1262C>T	13.37:g.49073879G>A	ENSP00000345144:p.Ser421Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDW8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S426L	ENST00000344532.3	37	c.1277	CCDS9411.1	13	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734204	0.48939	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.68479	-0.33;-0.33;-0.33	5.24	5.24	0.73138	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.220902	0.48767	D	0.000175	T	0.77765	0.4179	M	0.78916	2.43	0.80722	D	1	P;P;D;P	0.53462	0.954;0.907;0.96;0.907	P;P;P;P	0.52481	0.577;0.7;0.448;0.625	T	0.79037	-0.1967	10	0.46703	T	0.11	.	19.2264	0.93819	0.0:0.0:1.0:0.0	.	147;426;373;421	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	L	421;373;426;426;147	ENSP00000345144:S421L;ENSP00000389910:S426L;ENSP00000443862:S147L	ENSP00000345144:S421L	S	-	2	0	RCBTB2	47971880	1.000000	0.71417	0.969000	0.41365	0.169000	0.22640	7.512000	0.81728	2.616000	0.88540	0.478000	0.44815	TCG	RCBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000136161		0.453	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	193	0.00	0	G	NM_001268		49073879	49073879	-1	no_errors	ENST00000430805	ensembl	human	known	69_37n	missense	156	11.36	20	SNP	0.969	A
RCBTB2	1102	genome.wustl.edu	37	13	49089765	49089765	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:49089765C>A	ENST00000344532.3	-	5	578	c.155G>T	c.(154-156)gGc>gTc	p.G52V	RCBTB2_ENST00000430805.2_Missense_Mutation_p.G57V|RCBTB2_ENST00000481144.1_5'UTR|RCBTB2_ENST00000544904.1_Missense_Mutation_p.G28V|RCBTB2_ENST00000544492.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	52					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GCCAGCACTGCCAAAGACACA	0.353																																						dbGAP											0													78.0	80.0	80.0					13																	49089765		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.155G>T	13.37:g.49089765C>A	ENSP00000345144:p.Gly52Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDW8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.G57V	ENST00000344532.3	37	c.170	CCDS9411.1	13	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658604	0.67586	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904	T;T;T	0.62941	-0.01;-0.01;0.8	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.77731	0.4174	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.987	D;D;D;P	0.97110	0.999;1.0;0.999;0.88	T	0.77351	-0.2620	10	0.66056	D	0.02	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	28;57;56;52	B4DPP7;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	V	52;56;57;57;28	ENSP00000345144:G52V;ENSP00000389910:G57V;ENSP00000443904:G28V	ENSP00000345144:G52V	G	-	2	0	RCBTB2	47987766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	GGC	RCBTB2	-	NULL	ENSG00000136161		0.353	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	88	0.00	0	C	NM_001268		49089765	49089765	-1	no_errors	ENST00000430805	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	A
RCOR1	23186	genome.wustl.edu	37	14	103173723	103173723	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:103173723C>T	ENST00000570597.1	+	5	525	c.525C>T	c.(523-525)atC>atT	p.I175I	RCOR1_ENST00000262241.6_Silent_p.I178I			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	175	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AACATAATATCGAAAAGTCAT	0.363																																						dbGAP											0													135.0	134.0	134.0					14																	103173723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.525C>T	14.37:g.103173723C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15044|Q6P2I9|Q86VG5	Silent	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,prints_Antifreeze_1,pfscan_ELM2_dom	p.I178	ENST00000570597.1	37	c.534		14																																																																																			RCOR1	-	superfamily_Homeodomain-like,pfscan_ELM2_dom	ENSG00000089902		0.363	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	RCOR1	HGNC	protein_coding		249	0.00	0	C	NM_015156		103173723	103173723	+1	no_errors	ENST00000262241	ensembl	human	known	69_37n	silent	137	26.74	50	SNP	1.000	T
RDH10	157506	genome.wustl.edu	37	8	74235228	74235228	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:74235228G>T	ENST00000240285.5	+	6	1661	c.983G>T	c.(982-984)aGa>aTa	p.R328I	RDH10_ENST00000519380.1_Missense_Mutation_p.R163I|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383																																						dbGAP											0													65.0	59.0	61.0					8																	74235228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.983G>T	8.37:g.74235228G>T	ENSP00000240285:p.Arg328Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R328I	ENST00000240285.5	37	c.983	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165993	0.57476	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.84873	-1.91;-0.11	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.82116	0.4967	L	0.42245	1.32	0.80722	D	1	B	0.21753	0.06	B	0.14023	0.01	T	0.76334	-0.2997	10	0.44086	T	0.13	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	328	Q8IZV5	RDH10_HUMAN	I	328;163	ENSP00000240285:R328I;ENSP00000428132:R163I	ENSP00000240285:R328I	R	+	2	0	RDH10	74397782	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.743000	0.85020	2.894000	0.99253	0.591000	0.81541	AGA	RDH10	-	NULL	ENSG00000121039		0.383	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	63	0.00	0	G			74235228	74235228	+1	no_errors	ENST00000240285	ensembl	human	known	69_37n	missense	40	16.98	9	SNP	1.000	T
IPO4	79711	genome.wustl.edu	37	14	24648882	24648882	+	IGR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:24648882T>G	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Silent_p.P466P|REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Silent_p.P466P	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGGAGATGCCTTTGGTGCTGC	0.637																																						dbGAP											0													69.0	79.0	75.0					14																	24648882		2100	4208	6308	-	-	-	SO:0001628	intergenic_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648882T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	NULL	p.F168V	ENST00000354464.6	37	c.502	CCDS9616.1	14																																																																																			REC8	-	NULL	ENSG00000100918		0.637	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	88	0.00	0	T	NM_024658		24648882	24648882	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559797	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	0.473	G
RDH12	145226	genome.wustl.edu	37	14	68191965	68191965	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:68191965C>A	ENST00000551171.1	+	5	661	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	RDH12_ENST00000539142.1_Missense_Mutation_p.L113M|RDH12_ENST00000267502.3_Missense_Mutation_p.L113M	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	113					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGAGGGCTTTCTGGCAGGTGA	0.517																																						dbGAP											0													74.0	70.0	71.0					14																	68191965		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.337C>A	14.37:g.68191965C>A	ENSP00000449079:p.Leu113Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA2|Q8TAW6	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L113M	ENST00000551171.1	37	c.337	CCDS9787.1	14	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806128	0.50421	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.87571	-2.27;-2.27;-2.27	5.52	3.69	0.42338	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.91212	0.7231	M	0.69523	2.12	0.41536	D	0.98848	D	0.76494	0.999	D	0.74023	0.982	D	0.89096	0.3486	10	0.30854	T	0.27	.	10.9274	0.47199	0.0:0.8539:0.0:0.1461	.	113	Q96NR8	RDH12_HUMAN	M	113	ENSP00000449079:L113M;ENSP00000267502:L113M;ENSP00000438715:L113M	ENSP00000267502:L113M	L	+	1	2	RDH12	67261718	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.006000	0.40874	0.876000	0.35872	0.563000	0.77884	CTG	RDH12	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase	ENSG00000139988		0.517	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH12	HGNC	protein_coding	OTTHUMT00000406918.1	119	0.00	0	C			68191965	68191965	+1	no_errors	ENST00000267502	ensembl	human	known	69_37n	missense	65	36.89	38	SNP	0.999	A
RECQL	5965	genome.wustl.edu	37	12	21623140	21623140	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:21623140G>A	ENST00000444129.2	-	15	2406	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	PYROXD1_ENST00000538582.1_3'UTR|PYROXD1_ENST00000240651.9_3'UTR|RECQL_ENST00000421138.2_Silent_p.I646I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	646					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGGCATCATCGATTTTTCTTT	0.313								Other identified genes with known or suspected DNA repair function																														dbGAP											0													82.0	83.0	82.0					12																	21623140		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1938C>T	12.37:g.21623140G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.I646	ENST00000444129.2	37	c.1938	CCDS31756.1	12																																																																																			RECQL	-	NULL	ENSG00000004700		0.313	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	235	0.00	0	G	NM_002907		21623140	21623140	-1	no_errors	ENST00000421138	ensembl	human	known	69_37n	silent	121	16.44	24	SNP	0.009	A
REEP2	51308	genome.wustl.edu	37	5	137780194	137780194	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:137780194C>T	ENST00000254901.5	+	4	395	c.273C>T	c.(271-273)ttC>ttT	p.F91F	REEP2_ENST00000378339.2_Silent_p.F91F|REEP2_ENST00000506158.1_Silent_p.F53F	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	91					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCGCAAGTTCGTGCACCCAA	0.587																																						dbGAP											0													165.0	128.0	140.0					5																	137780194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.273C>T	5.37:g.137780194C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EM8|Q9NYF2	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.S129L	ENST00000254901.5	37	c.386	CCDS4205.1	5	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296378	0.23650	.	.	ENSG00000132563	ENST00000512126	.	.	.	5.13	1.16	0.20824	.	.	.	.	.	T	0.53997	0.1831	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44513	-0.9323	4	.	.	.	-18.0631	6.6809	0.23119	0.0:0.4646:0.0:0.5354	.	.	.	.	L	129	.	.	S	+	2	0	REEP2	137808093	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.715000	0.25822	0.360000	0.24265	-0.742000	0.03525	TCG	REEP2	-	pfam_TB2_DP1_HVA22	ENSG00000132563		0.587	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	REEP2	HGNC	protein_coding	OTTHUMT00000251284.1	140	0.00	0	C	NM_016606		137780194	137780194	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512126	ensembl	human	putative	69_37n	missense	69	24.18	22	SNP	1.000	T
REEP4	80346	genome.wustl.edu	37	8	21996041	21996041	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:21996041G>A	ENST00000306306.3	-	8	1201	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	REEP4_ENST00000523293.1_Missense_Mutation_p.S193L|REEP4_ENST00000334530.5_3'UTR	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	245					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)	microtubule binding (GO:0008017)			kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		TTCCTCGTCCGAACCTTCAGG	0.637											OREG0018606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													149.0	114.0	126.0					8																	21996041		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013048	CCDS6024.1	8p21.3	2008-05-02	2006-02-07	2006-02-07	ENSG00000168476	ENSG00000168476		"""Receptor accessory proteins"""	26176	protein-coding gene	gene with protein product		609349	"""chromosome 8 open reading frame 20"""	C8orf20		16271481, 15550249	Standard	NM_025232		Approved	FLJ22246, FLJ22277, PP432	uc003xau.1	Q9H6H4	OTTHUMG00000131491	ENST00000306306.3:c.733C>T	8.37:g.21996041G>A	ENSP00000303482:p.Arg245Trp	Somatic	752	WXS	Illumina GAIIx	Phase_IV	D3DSQ9|Q86VL1|Q9H6I5|Q9HBP4	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.R245W	ENST00000306306.3	37	c.733	CCDS6024.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.338357|4.338357	0.81911|0.81911	.|.	.|.	ENSG00000168476|ENSG00000168476	ENST00000306306|ENST00000523293	D|D	0.85171|0.89270	-1.95|-2.49	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.134179|.	0.32593|.	N|.	0.005882|.	D|D	0.89361|0.89361	0.6693|0.6693	L|L	0.54323|0.54323	1.7|1.7	0.21416|0.21416	N|N	0.999699|0.999699	D|.	0.60575|.	0.988|.	B|.	0.39258|.	0.295|.	T|T	0.81618|0.81618	-0.0851|-0.0851	10|7	0.87932|0.27082	D|T	0|0.32	-13.8067|-13.8067	14.42|14.42	0.67177|0.67177	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245|.	Q9H6H4|.	REEP4_HUMAN|.	W|L	245|193	ENSP00000303482:R245W|ENSP00000428709:S193L	ENSP00000303482:R245W|ENSP00000428709:S193L	R|S	-|-	1|2	2|0	REEP4|REEP4	22051986|22051986	0.084000|0.084000	0.21492|0.21492	0.166000|0.166000	0.22797|0.22797	0.961000|0.961000	0.63080|0.63080	1.478000|1.478000	0.35442|0.35442	2.470000|2.470000	0.83445|0.83445	0.655000|0.655000	0.94253|0.94253	CGG|TCG	REEP4	-	NULL	ENSG00000168476		0.637	REEP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP4	HGNC	protein_coding	OTTHUMT00000254337.2	106	0.93	1	G	NM_025232		21996041	21996041	-1	no_errors	ENST00000306306	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	0.381	A
REL	5966	genome.wustl.edu	37	2	61128173	61128173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61128173G>T	ENST00000295025.8	+	4	669	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	REL_ENST00000394479.3_Nonsense_Mutation_p.E117*	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	117	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E117*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGAAGTAAAAGAAGCTATTAT	0.289			A		Hodgkin Lymphoma																																	dbGAP		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	1	Substitution - Nonsense(1)	large_intestine(1)											67.0	66.0	66.0					2																	61128173		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.349G>T	2.37:g.61128173G>T	ENSP00000295025:p.Glu117*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RU2|Q2PNZ7|Q6LDY0	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E117*	ENST00000295025.8	37	c.349	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.879040	0.97904	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.95	5.95	0.96441	.	0.093712	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-35.0923	19.3813	0.94536	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	ENSP00000295025:E117X	E	+	1	0	REL	60981677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.967000	0.93402	2.824000	0.97209	0.655000	0.94253	GAA	REL	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000162924		0.289	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	197	0.00	0	G	NM_002908		61128173	61128173	+1	no_errors	ENST00000295025	ensembl	human	known	69_37n	nonsense	165	24.66	54	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103341439	103341439	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:103341439G>A	ENST00000428762.1	-	9	979	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	RELN_ENST00000343529.5_Missense_Mutation_p.R274C|RELN_ENST00000424685.2_Missense_Mutation_p.R274C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	274					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAACTAAAGCGACATGAACCT	0.313																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													97.0	95.0	96.0					7																	103341439		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.820C>T	7.37:g.103341439G>A	ENSP00000392423:p.Arg274Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom	p.R274C	ENST00000428762.1	37	c.820	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366174	0.82463	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.39742	-0.9599	10	0.72032	D	0.01	.	14.8286	0.70132	0.0:0.0:0.8561:0.1439	.	274;274	P78509-2;P78509	.;RELN_HUMAN	C	274	ENSP00000392423:R274C;ENSP00000345694:R274C;ENSP00000388446:R274C	ENSP00000345694:R274C	R	-	1	0	RELN	103128675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.995000	0.76257	2.741000	0.93983	0.585000	0.79938	CGC	RELN	-	NULL	ENSG00000189056		0.313	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	452	0.00	0	G	NM_005045		103341439	103341439	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	missense	174	23.14	53	SNP	1.000	A
REM1	28954	genome.wustl.edu	37	20	30070281	30070281	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:30070281C>A	ENST00000201979.2	+	4	908	c.615C>A	c.(613-615)gtC>gtA	p.V205V		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	205					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCGAGAAGTCTCTGTGGAAG	0.622																																						dbGAP											0													63.0	59.0	60.0					20																	30070281		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.615C>A	20.37:g.30070281C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V205	ENST00000201979.2	37	c.615	CCDS13181.1	20																																																																																			REM1	-	pfam_Small_GTPase,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom	ENSG00000088320		0.622	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM1	HGNC	protein_coding	OTTHUMT00000078508.2	85	0.00	0	C	NM_014012		30070281	30070281	+1	no_errors	ENST00000201979	ensembl	human	known	69_37n	silent	61	18.67	14	SNP	0.965	A
REM2	161253	genome.wustl.edu	37	14	23353905	23353905	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:23353905G>T	ENST00000267396.4	+	2	249	c.126G>T	c.(124-126)aaG>aaT	p.K42N	REM2_ENST00000536884.1_Missense_Mutation_p.K42N	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	42					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		CGCTACTAAAGAAGTCAGAGA	0.522																																						dbGAP											0													47.0	48.0	48.0					14																	23353905		1915	4123	6038	-	-	-	SO:0001583	missense	0				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.126G>T	14.37:g.23353905G>T	ENSP00000267396:p.Lys42Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5P1|Q8N8R8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase	p.K42N	ENST00000267396.4	37	c.126	CCDS45082.1	14	.	.	.	.	.	.	.	.	.	.	G	7.547	0.661877	0.14645	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.67171	-0.25;1.32	5.29	4.37	0.52481	.	0.269392	0.35708	N	0.003038	T	0.43411	0.1246	N	0.08118	0	0.30659	N	0.754641	B;B	0.12013	0.005;0.0	B;B	0.14578	0.011;0.002	T	0.34925	-0.9809	10	0.21014	T	0.42	.	11.5902	0.50941	0.0:0.2753:0.7247:0.0	.	42;42	B7Z5P1;Q8IYK8	.;REM2_HUMAN	N	42	ENSP00000267396:K42N;ENSP00000442774:K42N	ENSP00000267396:K42N	K	+	3	2	REM2	22423745	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	2.284000	0.43478	2.761000	0.94854	0.655000	0.94253	AAG	REM2	-	pirsf_Small_GTPase_GEM/REM/Rad	ENSG00000139890		0.522	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM2	HGNC	protein_coding	OTTHUMT00000408290.1	75	0.00	0	G	NM_173527		23353905	23353905	+1	no_errors	ENST00000267396	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	1.000	T
REPS1	85021	genome.wustl.edu	37	6	139265049	139265049	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:139265049C>A	ENST00000450536.2	-	6	1431	c.857G>T	c.(856-858)aGa>aTa	p.R286I	REPS1_ENST00000367663.4_Missense_Mutation_p.R286I|REPS1_ENST00000409812.2_Missense_Mutation_p.R286I|REPS1_ENST00000415951.2_Missense_Mutation_p.R286I|REPS1_ENST00000258062.5_Missense_Mutation_p.R286I			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	286	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATAATACTGTCTTTGTTCATC	0.383																																						dbGAP											0													169.0	153.0	158.0					6																	139265049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.857G>T	6.37:g.139265049C>A	ENSP00000392065:p.Arg286Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R286I	ENST00000450536.2	37	c.857		6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522451	0.85600	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	6.01	6.01	0.97437	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	L	0.43152	1.355	0.80722	D	1	P;D;P;P	0.63046	0.49;0.992;0.838;0.838	P;D;P;P	0.79108	0.489;0.992;0.907;0.907	T	0.09378	-1.0677	10	0.66056	D	0.02	-14.856	20.5211	0.99222	0.0:1.0:0.0:0.0	.	286;286;286;286	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	I	286;286;272;286;286;286;234	ENSP00000392065:R286I;ENSP00000356635:R286I;ENSP00000434251:R272I;ENSP00000386699:R286I;ENSP00000258062:R286I;ENSP00000397941:R286I	ENSP00000258062:R286I	R	-	2	0	REPS1	139306742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.861000	0.98227	0.650000	0.86243	AGA	REPS1	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000135597		0.383	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	312	0.00	0	C			139265049	139265049	-1	no_errors	ENST00000450536	ensembl	human	known	69_37n	missense	275	10.71	33	SNP	1.000	A
RERE	473	genome.wustl.edu	37	1	8421454	8421454	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:8421454C>T	ENST00000337907.3	-	19	2747	c.2113G>A	c.(2113-2115)Gac>Aac	p.D705N	RERE_ENST00000400908.2_Missense_Mutation_p.D705N|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.D437N|RERE_ENST00000476556.1_Missense_Mutation_p.D151N	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	705					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCCTGGTCGATGTCTTTG	0.612																																						dbGAP											0													141.0	129.0	133.0					1																	8421454		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2113G>A	1.37:g.8421454C>T	ENSP00000338629:p.Asp705Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.D705N	ENST00000337907.3	37	c.2113	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.031516	0.97221	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.62105	0.05;3.39;2.34;0.05	5.6	5.6	0.85130	.	.	.	.	.	T	0.78104	0.4231	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.75428	-0.3321	9	0.36615	T	0.2	-32.307	18.5905	0.91210	0.0:1.0:0.0:0.0	.	437;705	B1AKN3;Q9P2R6	.;RERE_HUMAN	N	705;437;151;705	ENSP00000338629:D705N;ENSP00000366684:D437N;ENSP00000422246:D151N;ENSP00000383700:D705N	ENSP00000338629:D705N	D	-	1	0	RERE	8344041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.766000	0.85320	2.653000	0.90120	0.561000	0.74099	GAC	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.612	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	130	0.00	0	C			8421454	8421454	-1	no_errors	ENST00000337907	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	1.000	T
REV3L	5980	genome.wustl.edu	37	6	111665171	111665171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:111665171G>A	ENST00000358835.3	-	22	7949	c.7495C>T	c.(7495-7497)Cga>Tga	p.R2499*	REV3L_ENST00000435970.1_Nonsense_Mutation_p.R2421*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2499*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2499*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2499					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R2421*(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GACAAGACTCGAAAGGTAAAG	0.353								DNA polymerases (catalytic subunits)																														dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											66.0	62.0	63.0					6																	111665171		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7495C>T	6.37:g.111665171G>A	ENSP00000351697:p.Arg2499*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R2499*	ENST00000358835.3	37	c.7495	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	50	17.244263	0.99882	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4438	20.1935	0.98237	0.0:0.0:1.0:0.0	.	.	.	.	X	2499;2499;2499;2421;572	.	ENSP00000351697:R2499X	R	-	1	2	REV3L	111771864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.215000	0.95146	2.779000	0.95612	0.591000	0.81541	CGA	REV3L	-	superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000009413		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	284	0.00	0	G	NM_002912		111665171	111665171	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	nonsense	211	14.23	35	SNP	1.000	A
REV3L	5980	genome.wustl.edu	37	6	111693940	111693940	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:111693940C>T	ENST00000358835.3	-	14	6072	c.5618G>A	c.(5617-5619)cGa>cAa	p.R1873Q	REV3L_ENST00000435970.1_Missense_Mutation_p.R1795Q|REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1873	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R1795Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGCAGTTCGAGGGGTGAA	0.413								DNA polymerases (catalytic subunits)																														dbGAP											1	Substitution - Missense(1)	large_intestine(1)											185.0	190.0	189.0					6																	111693940		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5618G>A	6.37:g.111693940C>T	ENSP00000351697:p.Arg1873Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R1873Q	ENST00000358835.3	37	c.5618	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530228	0.85706	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.87;4.87;4.87;4.78	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.082380	0.50627	D	0.000107	T	0.03783	0.0107	L	0.51422	1.61	0.46044	D	0.998832	D	0.76494	0.999	P	0.57204	0.815	T	0.55915	-0.8065	10	0.49607	T	0.09	-3.391	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1873	O60673	DPOLZ_HUMAN	Q	1873;1873;1873;1795	ENSP00000357792:R1873Q;ENSP00000357795:R1873Q;ENSP00000351697:R1873Q;ENSP00000402003:R1795Q	ENSP00000351697:R1873Q	R	-	2	0	REV3L	111800633	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.232000	0.78116	2.805000	0.96524	0.655000	0.94253	CGA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	291	0.00	0	C	NM_002912		111693940	111693940	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	156	26.85	58	SNP	1.000	T
REV3L	5980	genome.wustl.edu	37	6	111696988	111696988	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:111696988A>C	ENST00000358835.3	-	14	3024	c.2570T>G	c.(2569-2571)tTt>tGt	p.F857C	REV3L_ENST00000435970.1_Missense_Mutation_p.F779C|REV3L_ENST00000368802.3_Missense_Mutation_p.F857C|REV3L_ENST00000368805.1_Missense_Mutation_p.F857C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	857					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATTTTGTATAAAATTATCTTT	0.353								DNA polymerases (catalytic subunits)																														dbGAP											0													49.0	53.0	51.0					6																	111696988		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2570T>G	6.37:g.111696988A>C	ENSP00000351697:p.Phe857Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.F857C	ENST00000358835.3	37	c.2570	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	A	0.045	-1.269345	0.01421	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01455	4.96;4.96;4.96;4.87	5.34	1.03	0.20045	Ribonuclease H-like (1);	5.748410	0.00166	N	0.000001	T	0.00300	0.0009	N	0.00926	-1.1	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.46386	-0.9195	10	0.36615	T	0.2	-6.339	6.367	0.21461	0.1247:0.5859:0.0:0.2894	.	857	O60673	DPOLZ_HUMAN	C	857;857;857;779	ENSP00000357792:F857C;ENSP00000357795:F857C;ENSP00000351697:F857C;ENSP00000402003:F779C	ENSP00000351697:F857C	F	-	2	0	REV3L	111803681	0.981000	0.34729	0.949000	0.38748	0.006000	0.05464	0.519000	0.22862	0.257000	0.21650	-0.247000	0.11927	TTT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	167	0.00	0	A	NM_002912		111696988	111696988	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	133	12.50	19	SNP	0.604	C
RFC1	5981	genome.wustl.edu	37	4	39329255	39329255	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:39329255C>A	ENST00000381897.1	-	5	586	c.453G>T	c.(451-453)aaG>aaT	p.K151N	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.K151N	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	151					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGCTTATTCTTGGTCTTAG	0.358																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													177.0	152.0	160.0					4																	39329255		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.453G>T	4.37:g.39329255C>A	ENSP00000371321:p.Lys151Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.K151N	ENST00000381897.1	37	c.453	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683152	0.47991	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.29917	1.55;1.55	5.64	1.88	0.25563	.	0.240311	0.48286	D	0.000181	T	0.44829	0.1312	M	0.69823	2.125	0.30854	N	0.734291	D;D	0.65815	0.991;0.995	P;D	0.65233	0.859;0.933	T	0.47222	-0.9134	10	0.56958	D	0.05	-4.8396	4.7348	0.12982	0.0:0.4292:0.2933:0.2775	.	151;151	P35251;P35251-2	RFC1_HUMAN;.	N	151;151;123	ENSP00000371321:K151N;ENSP00000261424:K151N	ENSP00000261424:K151N	K	-	3	2	RFC1	39005650	1.000000	0.71417	0.694000	0.30210	0.644000	0.38419	1.655000	0.37345	0.102000	0.17638	-0.148000	0.13756	AAG	RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.358	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	488	0.00	0	C	NM_002913		39329255	39329255	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	missense	254	26.80	93	SNP	0.540	A
RFC4	5984	genome.wustl.edu	37	3	186507767	186507767	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:186507767C>T	ENST00000392481.2	-	11	1364	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|RFC4_ENST00000433496.1_Silent_p.Q334Q|RFC4_ENST00000296273.2_Silent_p.Q361Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	361					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GTTAACAATTCTGAGATAACT	0.348																																						dbGAP											0													70.0	66.0	67.0					3																	186507767		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.1083G>A	3.37:g.186507767C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM41|D3DNV2|Q6FHX7	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.Q361	ENST00000392481.2	37	c.1083	CCDS3283.1	3																																																																																			RFC4	-	NULL	ENSG00000163918		0.348	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC4	HGNC	protein_coding	OTTHUMT00000344471.1	218	0.00	0	C	NM_002916		186507767	186507767	-1	no_errors	ENST00000296273	ensembl	human	known	69_37n	silent	107	30.97	48	SNP	0.980	T
RFTN2	130132	genome.wustl.edu	37	2	198480650	198480650	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:198480650G>A	ENST00000295049.4	-	7	1640	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	368					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.F368F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GAAGCCATCCGAATTCAGCCA	0.403																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											88.0	73.0	78.0					2																	198480650		2201	4289	6490	-	-	-	SO:0001819	synonymous_variant	0			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1104C>T	2.37:g.198480650G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Silent	SNP	NULL	p.F368	ENST00000295049.4	37	c.1104	CCDS2323.1	2																																																																																			RFTN2	-	NULL	ENSG00000162944		0.403	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	HGNC	protein_coding	OTTHUMT00000256106.2	385	0.00	0	G	NM_144629		198480650	198480650	-1	no_errors	ENST00000295049	ensembl	human	known	69_37n	silent	274	15.17	49	SNP	0.996	A
RFX3	5991	genome.wustl.edu	37	9	3263050	3263050	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:3263050C>T	ENST00000382004.3	-	14	1801	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	RFX3_ENST00000302303.1_Missense_Mutation_p.R497Q|RFX3_ENST00000358730.2_Missense_Mutation_p.R497Q	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	497					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CGTGTATCTTCGCAGAGTCTG	0.488																																						dbGAP											0													160.0	136.0	144.0					9																	3263050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1490G>A	9.37:g.3263050C>T	ENSP00000371434:p.Arg497Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.R497Q	ENST00000382004.3	37	c.1490	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.512595	0.96402	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.16	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.72075	0.976;0.639	T	0.78692	-0.2105	10	0.59425	D	0.04	-11.5406	17.0255	0.86444	0.1283:0.8717:0.0:0.0	.	497;497	P48380-2;P48380	.;RFX3_HUMAN	Q	497;497;497;70	ENSP00000371434:R497Q;ENSP00000351574:R497Q;ENSP00000303847:R497Q;ENSP00000400026:R70Q	ENSP00000303847:R497Q	R	-	2	0	RFX3	3253050	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	1.606000	0.50161	0.650000	0.86243	CGA	RFX3	-	NULL	ENSG00000080298		0.488	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	278	0.00	0	C	NM_002919		3263050	3263050	-1	no_errors	ENST00000382004	ensembl	human	known	69_37n	missense	142	16.96	29	SNP	1.000	T
RFX4	5992	genome.wustl.edu	37	12	107048010	107048010	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:107048010G>A	ENST00000392842.1	+	4	610	c.196G>A	c.(196-198)Gag>Aag	p.E66K	RFX4_ENST00000357881.4_Missense_Mutation_p.E75K|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	66					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CCCTAGGCTGGAGGAGAACTA	0.483																																						dbGAP											0													108.0	109.0	108.0					12																	107048010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.196G>A	12.37:g.107048010G>A	ENSP00000376585:p.Glu66Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.E75K	ENST00000392842.1	37	c.223	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858832	0.71834	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640	D;D;D	0.82433	-1.61;-1.61;-1.61	5.84	5.84	0.93424	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	N	0.10916	0.065	0.80722	D	1	D;P;B	0.61697	0.99;0.567;0.449	D;B;B	0.72982	0.979;0.162;0.235	T	0.75013	-0.3467	10	0.06494	T	0.89	-21.2202	20.1379	0.98040	0.0:0.0:1.0:0.0	.	75;75;66	Q33E94-2;Q33E94-4;Q33E94	.;.;RFX4_HUMAN	K	66;75;75;11	ENSP00000376585:E66K;ENSP00000350552:E75K;ENSP00000448694:E11K	ENSP00000266774:E75K	E	+	1	0	RFX4	105572140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.827000	0.99397	2.779000	0.95612	0.655000	0.94253	GAG	RFX4	-	pfam_DNA-bd_RFX	ENSG00000111783		0.483	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	317	0.00	0	G	NM_032491		107048010	107048010	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	missense	195	15.15	35	SNP	1.000	A
RFX4	5992	genome.wustl.edu	37	12	107103124	107103124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:107103124C>T	ENST00000392842.1	+	9	1264	c.850C>T	c.(850-852)Cga>Tga	p.R284*	RFX4_ENST00000357881.4_Nonsense_Mutation_p.R293*|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Nonsense_Mutation_p.R190*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	284					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R293*(1)|p.R284*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAGGTGATTCGAAAGTTTGC	0.448																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											92.0	81.0	85.0					12																	107103124		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.850C>T	12.37:g.107103124C>T	ENSP00000376585:p.Arg284*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Nonsense_Mutation	SNP	pfam_DNA-bd_RFX	p.R293*	ENST00000392842.1	37	c.877	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.256001	0.98168	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000229387	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9846	13.9022	0.63812	0.2673:0.7327:0.0:0.0	.	.	.	.	X	284;293;293;229;190	.	ENSP00000229387:R190X	R	+	1	2	RFX4	105627254	0.974000	0.33945	1.000000	0.80357	0.995000	0.86356	1.605000	0.36815	2.682000	0.91365	0.650000	0.86243	CGA	RFX4	-	NULL	ENSG00000111783		0.448	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	585	0.00	0	C	NM_032491		107103124	107103124	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	nonsense	474	13.64	75	SNP	1.000	T
RFX6	222546	genome.wustl.edu	37	6	117237188	117237188	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:117237188G>T	ENST00000332958.2	+	8	814	c.798G>T	c.(796-798)atG>atT	p.M266I	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	266					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGCTCATAATGATGTACAAAA	0.328																																						dbGAP											0													134.0	133.0	133.0					6																	117237188		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.798G>T	6.37:g.117237188G>T	ENSP00000332208:p.Met266Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.M266I	ENST00000332958.2	37	c.798	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679287	0.68042	.	.	ENSG00000185002	ENST00000332958	T	0.56444	0.46	5.97	5.97	0.96955	.	0.075813	0.85682	D	0.000000	T	0.24774	0.0601	N	0.10972	0.075	0.80722	D	1	B	0.26041	0.14	B	0.23150	0.044	T	0.06826	-1.0805	10	0.37606	T	0.19	-19.7342	20.4324	0.99085	0.0:0.0:1.0:0.0	.	266	Q8HWS3	RFX6_HUMAN	I	266	ENSP00000332208:M266I	ENSP00000332208:M266I	M	+	3	0	RFX6	117343881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.833000	0.97629	0.585000	0.79938	ATG	RFX6	-	NULL	ENSG00000185002		0.328	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	329	0.30	1	G	NM_173560		117237188	117237188	+1	no_errors	ENST00000332958	ensembl	human	known	69_37n	missense	188	11.74	25	SNP	1.000	T
RFX6	222546	genome.wustl.edu	37	6	117237424	117237424	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:117237424G>A	ENST00000332958.2	+	9	935	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	307					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCCTGCTCGAAAATCCTGT	0.343																																						dbGAP											0													156.0	152.0	153.0					6																	117237424		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.919G>A	6.37:g.117237424G>A	ENSP00000332208:p.Glu307Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.E307K	ENST00000332958.2	37	c.919	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719858	0.30503	.	.	ENSG00000185002	ENST00000332958	T	0.56776	0.44	5.62	5.62	0.85841	.	0.102357	0.64402	D	0.000003	T	0.18383	0.0441	N	0.03967	-0.31	0.58432	D	0.999997	B	0.28512	0.214	B	0.21917	0.037	T	0.08186	-1.0734	10	0.27082	T	0.32	-16.4106	19.6354	0.95731	0.0:0.0:1.0:0.0	.	307	Q8HWS3	RFX6_HUMAN	K	307	ENSP00000332208:E307K	ENSP00000332208:E307K	E	+	1	0	RFX6	117344117	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	7.564000	0.82326	2.641000	0.89580	0.591000	0.81541	GAA	RFX6	-	NULL	ENSG00000185002		0.343	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	301	0.00	0	G	NM_173560		117237424	117237424	+1	no_errors	ENST00000332958	ensembl	human	known	69_37n	missense	153	29.17	63	SNP	1.000	A
RFX6	222546	genome.wustl.edu	37	6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:117245849C>T	ENST00000332958.2	+	15	1589	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											134.0	128.0	130.0					6																	117245849		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1573C>T	6.37:g.117245849C>T	ENSP00000332208:p.Arg525*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6B3	Nonsense_Mutation	SNP	pfam_DNA-bd_RFX	p.R525*	ENST00000332958.2	37	c.1573	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.000857	0.97189	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.32	4.43	0.53597	.	0.127580	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.989	13.7263	0.62761	0.0:0.9256:0.0:0.0743	.	.	.	.	X	525	.	ENSP00000332208:R525X	R	+	1	2	RFX6	117352542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.030000	0.41108	2.646000	0.89796	0.655000	0.94253	CGA	RFX6	-	NULL	ENSG00000185002		0.388	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	282	0.00	0	C	NM_173560		117245849	117245849	+1	no_errors	ENST00000332958	ensembl	human	known	69_37n	nonsense	170	27.35	64	SNP	1.000	T
RFX7	64864	genome.wustl.edu	37	15	56386020	56386020	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:56386020G>A	ENST00000559447.2	-	9	3886	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	RFX7_ENST00000423270.1_Silent_p.I1302I|RFX7_ENST00000317318.6_Silent_p.I1302I|RFX7_ENST00000422057.1_Silent_p.I1205I			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1205					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGGAATCGATCATATTTT	0.418																																						dbGAP											0													87.0	80.0	82.0					15																	56386020		1845	4085	5930	-	-	-	SO:0001819	synonymous_variant	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3615C>T	15.37:g.56386020G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	pfam_DNA-bd_RFX	p.I1302	ENST00000559447.2	37	c.3906		15																																																																																			RFX7	-	NULL	ENSG00000181827		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	78	0.00	0	G	NM_022841		56386020	56386020	-1	no_errors	ENST00000423270	ensembl	human	known	69_37n	silent	55	24.66	18	SNP	0.033	A
RGAG1	57529	genome.wustl.edu	37	X	109694563	109694563	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:109694563G>A	ENST00000465301.2	+	3	964	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	RGAG1_ENST00000540313.1_Missense_Mutation_p.E240K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	240										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAAGACACCGAAGCAATGTC	0.468																																						dbGAP											0													113.0	103.0	107.0					X																	109694563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.718G>A	X.37:g.109694563G>A	ENSP00000419786:p.Glu240Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.E240K	ENST00000465301.2	37	c.718	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966345	0.74131	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.59906	0.23;0.23	4.02	4.02	0.46733	.	0.000000	0.37012	N	0.002291	T	0.55737	0.1939	N	0.19112	0.55	0.30682	N	0.752238	D	0.89917	1.0	D	0.80764	0.994	T	0.54234	-0.8324	9	.	.	.	-8.2763	6.6798	0.23113	0.127:0.0:0.873:0.0	.	240	Q8NET4	RGAG1_HUMAN	K	240	ENSP00000419786:E240K;ENSP00000441452:E240K	.	E	+	1	0	RGAG1	109581219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.278000	0.43426	2.238000	0.73509	0.600000	0.82982	GAA	RGAG1	-	NULL	ENSG00000243978		0.468	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	205	0.00	0	G	NM_020769		109694563	109694563	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	90	29.13	37	SNP	0.996	A
RGL1	23179	genome.wustl.edu	37	1	183711314	183711314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:183711314G>T	ENST00000304685.4	+	2	471	c.22G>T	c.(22-24)Gaa>Taa	p.E8*	RGL1_ENST00000536277.1_Nonsense_Mutation_p.E8*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACCTGTGGGAGAACCTACTCA	0.443																																						dbGAP											0													82.0	77.0	78.0					1																	183711314		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000304685.4:c.22G>T	1.37:g.183711314G>T	ENSP00000303192:p.Glu8*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E8*	ENST00000304685.4	37	c.22	CCDS1359.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.103985	0.97286	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277	.	.	.	5.09	4.11	0.48088	.	0.411983	0.22169	N	0.063675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0072	0.47641	0.0:0.1886:0.8114:0.0	.	.	.	.	X	8	.	ENSP00000303192:E8X	E	+	1	0	RGL1	181977937	0.999000	0.42202	1.000000	0.80357	0.257000	0.26127	1.861000	0.39438	2.522000	0.85027	0.650000	0.86243	GAA	RGL1	-	NULL	ENSG00000143344		0.443	RGL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085481.3	430	0.46	2	G	NM_015149		183711314	183711314	+1	no_errors	ENST00000304685	ensembl	human	known	69_37n	nonsense	301	11.47	39	SNP	1.000	T
RGPD3	653489	genome.wustl.edu	37	2	107040336	107040336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:107040336C>A	ENST00000409886.3	-	20	4174	c.4087G>T	c.(4087-4089)Gaa>Taa	p.E1363*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.E1363*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1363	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGTAGAATTCTGCCCTGTGA	0.363																																						dbGAP											0													79.0	56.0	63.0					2																	107040336		692	1578	2270	-	-	-	SO:0001587	stop_gained	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4087G>T	2.37:g.107040336C>A	ENSP00000386588:p.Glu1363*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM4	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1363*	ENST00000409886.3	37	c.4087	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	37	6.056874	0.97241	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	.	.	.	2.35	1.12	0.20585	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.7795	5.8164	0.18495	0.0:0.1492:0.0:0.8508	.	.	.	.	X	1363	.	ENSP00000303659:E1363X	E	-	1	0	RGPD3	106406768	1.000000	0.71417	0.992000	0.48379	0.058000	0.15608	4.889000	0.63171	0.144000	0.18951	-1.541000	0.00910	GAA	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.363	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	190	0.00	0	C	XM_929931		107040336	107040336	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	nonsense	116	15.94	22	SNP	1.000	A
RGS1	5996	genome.wustl.edu	37	1	192545033	192545033	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:192545033A>C	ENST00000367459.3	+	1	177	c.111A>C	c.(109-111)aaA>aaC	p.K37N	RGS1_ENST00000469578.2_Missense_Mutation_p.K37N	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	37					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TAGACGACAAAATGCAAAAAA	0.383																																						dbGAP											0													83.0	86.0	85.0					1																	192545033		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.111A>C	1.37:g.192545033A>C	ENSP00000356429:p.Lys37Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM9|B4DZY0|Q07918|Q9H1W2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.K37N	ENST00000367459.3	37	c.111	CCDS1375.2	1	.	.	.	.	.	.	.	.	.	.	A	6.642	0.486993	0.12641	.	.	ENSG00000090104	ENST00000367459	T	0.41400	1.0	6.08	-0.309	0.12769	.	0.784874	0.12258	N	0.484973	T	0.27524	0.0676	L	0.29908	0.895	0.09310	N	1	B;P	0.47302	0.012;0.893	B;B	0.42916	0.016;0.402	T	0.16689	-1.0394	10	0.24483	T	0.36	.	6.5893	0.22638	0.583:0.1195:0.2975:0.0	.	37;37	Q08116-2;Q08116	.;RGS1_HUMAN	N	37	ENSP00000356429:K37N	ENSP00000356429:K37N	K	+	3	2	RGS1	190811656	0.005000	0.15991	0.011000	0.14972	0.393000	0.30537	0.195000	0.17155	-0.292000	0.08999	0.482000	0.46254	AAA	RGS1	-	NULL	ENSG00000090104		0.383	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS1	HGNC	protein_coding	OTTHUMT00000086391.1	478	0.00	0	A	NM_002922		192545033	192545033	+1	no_errors	ENST00000367459	ensembl	human	known	69_37n	missense	268	21.41	73	SNP	0.025	C
RGS10	6001	genome.wustl.edu	37	10	121259769	121259769	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:121259769G>T	ENST00000369101.3	-	4	405	c.378C>A	c.(376-378)atC>atA	p.I126I	RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369103.2_Silent_p.I134I|RGS10_ENST00000392865.1_Silent_p.I120I			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	126	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		TGAGATTAAAGATCTAAGGAG	0.403																																						dbGAP											0													75.0	75.0	75.0					10																	121259769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.378C>A	10.37:g.121259769G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K408|B1AMR8|Q6IAZ6|Q96GN0	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.I134	ENST00000369101.3	37	c.402		10																																																																																			RGS10	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000148908		0.403	RGS10-002	KNOWN	basic	protein_coding	RGS10	HGNC	protein_coding	OTTHUMT00000050655.1	138	0.00	0	G	NM_002925		121259769	121259769	-1	no_errors	ENST00000369103	ensembl	human	known	69_37n	silent	93	12.26	13	SNP	1.000	T
RGS13	6003	genome.wustl.edu	37	1	192628676	192628676	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:192628676G>T	ENST00000391995.2	+	0	791				RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AGTTTAAATAGAAAACAGTAT	0.308																																						dbGAP											0													19.0	19.0	19.0					1																	192628676		2192	4293	6485	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.*23G>T	1.37:g.192628676G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PGR2|Q8TD63|Q9BX45	RNA	SNP	-	NULL	ENST00000391995.2	37	NULL	CCDS1376.1	1																																																																																			RGS13	-	-	ENSG00000127074		0.308	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS13	HGNC	protein_coding	OTTHUMT00000086400.1	174	0.00	0	G	NM_002927		192628676	192628676	+1	no_errors	ENST00000462955	ensembl	human	known	69_37n	rna	110	23.61	34	SNP	0.025	T
RGS14	10636	genome.wustl.edu	37	5	176793231	176793231	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176793231C>A	ENST00000408923.3	+	3	309	c.121C>A	c.(121-123)Ctc>Atc	p.L41I		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	41					cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCAGCTCTCTCAGCATCCA	0.692																																					NSCLC(47;353 1896 28036)	dbGAP											0													12.0	20.0	17.0					5																	176793231		1966	4150	6116	-	-	-	SO:0001583	missense	0			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.121C>A	5.37:g.176793231C>A	ENSP00000386229:p.Leu41Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L41I	ENST00000408923.3	37	c.121	CCDS43405.1	5	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491844	0.44249	.	.	ENSG00000169220	ENST00000408923;ENST00000336477	T	0.39592	1.07	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000007	T	0.30293	0.0760	N	0.19112	0.55	0.27152	N	0.961384	B	0.20368	0.044	B	0.19391	0.025	T	0.33033	-0.9884	10	0.72032	D	0.01	-19.8735	13.6634	0.62380	0.0:0.844:0.156:0.0	.	41	O43566	RGS14_HUMAN	I	41	ENSP00000386229:L41I	ENSP00000336864:L41I	L	+	1	0	RGS14	176725837	0.983000	0.35010	1.000000	0.80357	0.984000	0.73092	2.565000	0.45939	2.023000	0.59567	0.442000	0.29010	CTC	RGS14	-	NULL	ENSG00000169220		0.692	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	27	0.00	0	C	NM_006480		176793231	176793231	+1	no_errors	ENST00000408923	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.954	A
RGS17	26575	genome.wustl.edu	37	6	153345440	153345440	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:153345440C>A	ENST00000367225.2	-	3	425	c.401G>T	c.(400-402)aGg>aTg	p.R134M	RGS17_ENST00000206262.1_Missense_Mutation_p.R134M			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	134	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		ATATATCATCCTAGCCTTTTC	0.378																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	dbGAP											0													100.0	91.0	94.0					6																	153345440		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.401G>T	6.37:g.153345440C>A	ENSP00000356194:p.Arg134Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R134M	ENST00000367225.2	37	c.401	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296222	0.81025	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.02085	4.46;4.46	5.88	5.88	0.94601	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.13157	0.0319	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.01262	-1.1402	10	0.87932	D	0	-23.1751	20.2279	0.98344	0.0:1.0:0.0:0.0	.	134	Q9UGC6	RGS17_HUMAN	M	134	ENSP00000356194:R134M;ENSP00000206262:R134M	ENSP00000206262:R134M	R	-	2	0	RGS17	153387133	0.998000	0.40836	0.998000	0.56505	0.977000	0.68977	3.982000	0.56909	2.778000	0.95560	0.655000	0.94253	AGG	RGS17	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000091844		0.378	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	509	0.00	0	C			153345440	153345440	-1	no_errors	ENST00000206262	ensembl	human	known	69_37n	missense	422	10.40	49	SNP	0.998	A
RGS20	8601	genome.wustl.edu	37	8	54866734	54866734	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:54866734G>A	ENST00000297313.3	+	5	934	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	RGS20_ENST00000522225.1_Missense_Mutation_p.R15Q|RGS20_ENST00000344277.6_Missense_Mutation_p.R166Q|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.R134Q	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	281	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R281Q(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAATTCCTCCGAACAGAATTC	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											75.0	74.0	74.0					8																	54866734		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.842G>A	8.37:g.54866734G>A	ENSP00000297313:p.Arg281Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BG9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.R281Q	ENST00000297313.3	37	c.842	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876302	0.72180	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.78	3.91	0.45181	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64404	1.975	0.58432	D	0.999999	P;D;D;D;D	0.64830	0.693;0.987;0.994;0.994;0.99	B;P;D;D;P	0.63597	0.289;0.887;0.916;0.916;0.79	T	0.52495	-0.8568	10	0.72032	D	0.01	.	13.3209	0.60432	0.077:0.0:0.923:0.0	.	45;73;134;166;281	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	Q	281;166;15;134	ENSP00000297313:R281Q;ENSP00000344630:R166Q;ENSP00000430627:R15Q;ENSP00000276500:R134Q	ENSP00000276500:R134Q	R	+	2	0	RGS20	55029287	1.000000	0.71417	0.389000	0.26208	0.384000	0.30261	9.813000	0.99286	1.133000	0.42147	0.563000	0.77884	CGA	RGS20	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,prints_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000147509		0.433	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1	79	0.00	0	G			54866734	54866734	+1	no_errors	ENST00000297313	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	A
RGS22	26166	genome.wustl.edu	37	8	101076051	101076051	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101076051A>C	ENST00000360863.6	-	8	1139	c.945T>G	c.(943-945)ttT>ttG	p.F315L	RGS22_ENST00000523287.1_Missense_Mutation_p.F134L|RGS22_ENST00000523437.1_Missense_Mutation_p.F303L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	315					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGAGCTTAAAAATTCTTCAC	0.353																																						dbGAP											0													64.0	62.0	62.0					8																	101076051		1819	4073	5892	-	-	-	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.945T>G	8.37:g.101076051A>C	ENSP00000354109:p.Phe315Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.F315L	ENST00000360863.6	37	c.945	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747529	0.49257	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.40756	1.06;1.02;1.07	5.86	4.72	0.59763	.	0.069449	0.64402	D	0.000012	T	0.38427	0.1040	M	0.66939	2.045	0.29674	N	0.842226	P;P;P	0.45474	0.779;0.779;0.859	B;B;B	0.40782	0.184;0.184;0.34	T	0.49513	-0.8932	10	0.49607	T	0.09	.	5.8272	0.18560	0.7339:0.0:0.1407:0.1254	.	303;315;134	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	L	315;303;134;303	ENSP00000354109:F315L;ENSP00000429382:F134L;ENSP00000428212:F303L	ENSP00000354109:F315L	F	-	3	2	RGS22	101145227	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	1.448000	0.35112	1.165000	0.42670	0.528000	0.53228	TTT	RGS22	-	NULL	ENSG00000132554		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	158	0.00	0	A	NM_015668		101076051	101076051	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	missense	96	32.39	46	SNP	0.955	C
RGS9	8787	genome.wustl.edu	37	17	63198115	63198115	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:63198115G>T	ENST00000262406.9	+	14	1048	c.981G>T	c.(979-981)gaG>gaT	p.E327D	RGS9_ENST00000443584.3_Missense_Mutation_p.E324D|RGS9_ENST00000449996.3_Missense_Mutation_p.E324D	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	327	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATGCAGGAGAGAATCTGGGAT	0.483																																						dbGAP											0													77.0	74.0	75.0					17																	63198115		1860	4111	5971	-	-	-	SO:0001583	missense	0			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.981G>T	17.37:g.63198115G>T	ENSP00000262406:p.Glu327Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E327D	ENST00000262406.9	37	c.981	CCDS42373.1	17	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554345	0.27739	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T	0.37058	1.22;1.22	5.51	3.5	0.40072	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.92649	3.33	0.58432	D	0.999997	D;D;D	0.67145	0.983;0.996;0.995	P;D;P	0.64410	0.699;0.925;0.877	T	0.73861	-0.3849	10	0.87932	D	0	.	11.9345	0.52866	0.1412:0.0:0.8588:0.0	.	327;327;324	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	327;324;327	ENSP00000262406:E327D;ENSP00000396329:E324D	ENSP00000262406:E327D	E	+	3	2	RGS9	60628577	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	3.926000	0.56491	1.459000	0.47892	0.655000	0.94253	GAG	RGS9	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000108370		0.483	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	120	0.00	0	G	NM_003835		63198115	63198115	+1	no_errors	ENST00000262406	ensembl	human	known	69_37n	missense	81	18.18	18	SNP	1.000	T
RGSL1	353299	genome.wustl.edu	37	1	182443444	182443444	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:182443444C>A	ENST00000294854.8	+	6	1218	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	RGSL1_ENST00000542961.1_Missense_Mutation_p.L435I	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	400					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						GATCCAACTTCTTGACCTCTG	0.478																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)	dbGAP											0													179.0	147.0	156.0					1																	182443444		692	1591	2283	-	-	-	SO:0001583	missense	0			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1198C>A	1.37:g.182443444C>A	ENSP00000457748:p.Leu400Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam	p.L400I	ENST00000294854.8	37	c.1198	CCDS58049.1	1																																																																																			RGSL1	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000121446		0.478	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	459	0.00	0	C	NM_181572		182443444	182443444	+1	no_errors	ENST00000294854	ensembl	human	known	69_37n	missense	294	11.98	40	SNP	0.996	A
RHNO1	83695	genome.wustl.edu	37	12	2997449	2997449	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:2997449A>C	ENST00000489288.2	+	3	693	c.541A>C	c.(541-543)Agc>Cgc	p.S181R	RHNO1_ENST00000464682.2_3'UTR|TULP3_ENST00000448120.2_5'Flank|TULP3_ENST00000397132.2_5'Flank|RHNO1_ENST00000461997.2_Missense_Mutation_p.S167R	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1	Q9BSD3	RHNO1_HUMAN	RAD9-HUS1-RAD1 interacting nuclear orphan 1	181					cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|positive regulation of G0 to G1 transition (GO:0070318)|recombinational repair (GO:0000725)	chromosome (GO:0005694)|nucleus (GO:0005634)											CAGCCTTCTAAGCTGCACTCT	0.483																																						dbGAP											0													115.0	108.0	110.0					12																	2997449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021945	CCDS8518.1, CCDS58199.1	12p13.33	2012-08-23	2012-08-23	2012-08-23	ENSG00000171792	ENSG00000171792			28206	protein-coding gene	gene with protein product	"""Rad9, Rad1, Hus1 interacting nuclear orphan"""	614085	"""chromosome 12 open reading frame 32"""	C12orf32		20811708, 21659603	Standard	NM_001252499		Approved	HKMT1188, MGC13204, RHINO	uc031qfq.1	Q9BSD3	OTTHUMG00000158557	ENST00000489288.2:c.541A>C	12.37:g.2997449A>C	ENSP00000438590:p.Ser181Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z989	Missense_Mutation	SNP	NULL	p.S181R	ENST00000489288.2	37	c.541	CCDS8518.1	12	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867098	0.32977	.	.	ENSG00000171792	ENST00000461997;ENST00000489288	.	.	.	5.21	-4.53	0.03462	.	0.889887	0.10045	N	0.722927	T	0.24890	0.0604	.	.	.	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.18561	0.022;0.022	T	0.29119	-1.0022	8	0.87932	D	0	2.858	2.7797	0.05357	0.358:0.1311:0.3837:0.1272	.	167;181	B7Z989;Q9BSD3	.;RHINO_HUMAN	R	167;181	.	ENSP00000438828:S167R	S	+	1	0	C12orf32	2867710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.753000	0.04792	-0.814000	0.04352	-0.336000	0.08194	AGC	RHNO1	-	NULL	ENSG00000171792		0.483	RHNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHNO1	HGNC	protein_coding	OTTHUMT00000351286.2	78	0.00	0	A	NM_031465		2997449	2997449	+1	no_errors	ENST00000489288	ensembl	human	known	69_37n	missense	101	10.62	12	SNP	0.000	C
RHOB	388	genome.wustl.edu	37	2	20647565	20647565	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:20647565C>A	ENST00000272233.4	+	1	731	c.339C>A	c.(337-339)atC>atA	p.I113I		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	113					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	TGCCCATCATCCTGGTGGCCA	0.617																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.339C>A	2.37:g.20647565C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I113	ENST00000272233.4	37	c.339	CCDS1699.1	2																																																																																			RHOB	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000143878		0.617	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOB	HGNC	protein_coding	OTTHUMT00000207500.1	41	0.00	0	C	NM_004040		20647565	20647565	+1	no_errors	ENST00000272233	ensembl	human	known	69_37n	silent	17	26.09	6	SNP	1.000	A
RHOBTB2	23221	genome.wustl.edu	37	8	22861955	22861955	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:22861955C>T	ENST00000251822.6	+	2	545	c.8C>T	c.(7-9)tCt>tTt	p.S3F	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.S25F|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.S10F|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	3	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TTAATGGATTCTGACATGGAT	0.612											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													107.0	81.0	90.0					8																	22861955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.8C>T	8.37:g.22861955C>T	ENSP00000251822:p.Ser3Phe	Somatic	759	WXS	Illumina GAIIx	Phase_IV	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.S3F	ENST00000251822.6	37	c.8	CCDS6034.1	8	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581496	0.46006	.	.	ENSG00000008853	ENST00000519685;ENST00000524077;ENST00000522948;ENST00000251822	T;T;T;T	0.29655	2.93;1.56;2.96;2.97	4.73	4.73	0.59995	.	0.179987	0.50627	D	0.000120	T	0.27205	0.0667	L	0.29908	0.895	0.38962	D	0.95857	P;P;P	0.43885	0.82;0.82;0.531	B;B;B	0.41813	0.367;0.367;0.154	T	0.10064	-1.0646	10	0.46703	T	0.11	.	16.4336	0.83861	0.0:1.0:0.0:0.0	.	10;3;25	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	F	25;25;10;3	ENSP00000427926:S25F;ENSP00000430785:S25F;ENSP00000429141:S10F;ENSP00000251822:S3F	ENSP00000251822:S3F	S	+	2	0	RHOBTB2	22917900	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.168000	0.50801	2.456000	0.83038	0.561000	0.74099	TCT	RHOBTB2	-	NULL	ENSG00000008853		0.612	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	67	0.00	0	C			22861955	22861955	+1	no_errors	ENST00000251822	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	1.000	T
RHOT1	55288	genome.wustl.edu	37	17	30520205	30520205	+	Missense_Mutation	SNP	G	G	T	rs145734789		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:30520205G>T	ENST00000333942.6	+	10	929	c.690G>T	c.(688-690)aaG>aaT	p.K230N	RHOT1_ENST00000358365.3_Missense_Mutation_p.K230N|RHOT1_ENST00000354266.3_Missense_Mutation_p.K209N|RHOT1_ENST00000394692.2_Missense_Mutation_p.K230N|RHOT1_ENST00000581094.1_Missense_Mutation_p.K230N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.K230N|RHOT1_ENST00000583994.1_Missense_Mutation_p.K103N	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	230					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGGATGTCAAGAATGTAGTCA	0.363																																						dbGAP											0													95.0	91.0	92.0					17																	30520205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.690G>T	17.37:g.30520205G>T	ENSP00000334724:p.Lys230Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K230N	ENST00000333942.6	37	c.690	CCDS32612.1	17	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968007	0.34754	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.52754	0.65;0.65;0.65	5.59	4.57	0.56435	EF hand associated, type-2 (1);EF-hand-like domain (1);	0.043278	0.85682	D	0.000000	T	0.76997	0.4066	H	0.95712	3.71	0.80722	D	1	D;D;D;D	0.67145	0.995;0.996;0.995;0.995	D;D;D;D	0.77557	0.962;0.99;0.972;0.962	D	0.84177	0.0437	10	0.87932	D	0	-5.6961	13.9949	0.64390	0.0764:0.0:0.9236:0.0	.	230;230;230;230	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	230	ENSP00000351132:K230N;ENSP00000378184:K230N;ENSP00000334724:K230N	ENSP00000334724:K230N	K	+	3	2	RHOT1	27544318	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.529000	0.60588	1.249000	0.43950	0.467000	0.42956	AAG	RHOT1	-	pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro	ENSG00000126858		0.363	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	371	0.00	0	G	NM_018307		30520205	30520205	+1	no_errors	ENST00000358365	ensembl	human	known	69_37n	missense	302	14.20	50	SNP	1.000	T
RHPN2	85415	genome.wustl.edu	37	19	33471064	33471064	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:33471064T>G	ENST00000254260.3	-	15	1934	c.1899A>C	c.(1897-1899)aaA>aaC	p.K633N	RHPN2_ENST00000588683.1_5'UTR|RHPN2_ENST00000400226.4_Missense_Mutation_p.K482N	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	633					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCTTGGAGATTTTCTTGGTTT	0.493																																						dbGAP											0													86.0	78.0	80.0					19																	33471064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1899A>C	19.37:g.33471064T>G	ENSP00000254260:p.Lys633Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.K633N	ENST00000254260.3	37	c.1899	CCDS12427.1	19	.	.	.	.	.	.	.	.	.	.	T	19.30	3.800718	0.70567	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.50277	1.72;0.75	5.29	-0.45	0.12223	.	0.277742	0.39615	N	0.001317	T	0.60919	0.2306	M	0.67953	2.075	0.49915	D	0.999839	D	0.89917	1.0	D	0.91635	0.999	T	0.57728	-0.7761	10	0.52906	T	0.07	-0.8938	10.4271	0.44385	0.0:0.4911:0.0:0.5089	.	633	Q8IUC4	RHPN2_HUMAN	N	633;363;482	ENSP00000254260:K633N;ENSP00000402244:K482N	ENSP00000254260:K633N	K	-	3	2	RHPN2	38162904	0.495000	0.26051	0.904000	0.35570	0.928000	0.56348	-0.183000	0.09712	-0.321000	0.08627	0.472000	0.43445	AAA	RHPN2	-	NULL	ENSG00000131941		0.493	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	448	0.00	0	T	NM_033103		33471064	33471064	-1	no_errors	ENST00000254260	ensembl	human	known	69_37n	missense	358	18.26	80	SNP	0.996	G
RIBC1	158787	genome.wustl.edu	37	X	53453288	53453288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:53453288C>T	ENST00000375327.3	+	3	217	c.64C>T	c.(64-66)Cga>Tga	p.R22*	RIBC1_ENST00000414955.2_Nonsense_Mutation_p.R22*|RIBC1_ENST00000457095.1_Nonsense_Mutation_p.R22*	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	22										lung(2)	2						TAGAAGAAATCGAGAAAAAGA	0.502																																						dbGAP											0													111.0	79.0	90.0					X																	53453288		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.64C>T	X.37:g.53453288C>T	ENSP00000364476:p.Arg22*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E297|E9PDU2|Q5H931|Q96A80	Nonsense_Mutation	SNP	pfam_RIB43A	p.R22*	ENST00000375327.3	37	c.64	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	C	37	5.985706	0.97173	.	.	ENSG00000158423	ENST00000329209;ENST00000414955;ENST00000457095;ENST00000375327	.	.	.	4.88	3.99	0.46301	.	0.529195	0.19557	N	0.111411	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8847	12.5478	0.56210	0.1682:0.8318:0.0:0.0	.	.	.	.	X	22	.	ENSP00000332142:R22X	R	+	1	2	RIBC1	53470013	1.000000	0.71417	0.974000	0.42286	0.509000	0.34042	2.948000	0.49066	0.824000	0.34613	0.600000	0.82982	CGA	RIBC1	-	pfam_RIB43A	ENSG00000158423		0.502	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	556	0.00	0	C	NM_144968		53453288	53453288	+1	no_errors	ENST00000375327	ensembl	human	known	69_37n	nonsense	365	13.48	57	SNP	0.997	T
RIMS1	22999	genome.wustl.edu	37	6	72960709	72960709	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:72960709C>T	ENST00000521978.1	+	14	2458	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	RIMS1_ENST00000348717.5_Missense_Mutation_p.R820C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R820C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R820C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R213C|RIMS1_ENST00000264839.7_Missense_Mutation_p.R820C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R820C|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000522291.1_Missense_Mutation_p.R820C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R294C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R279C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R294C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R820C	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	820	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.		R -> H (in CORD7). {ECO:0000269|PubMed:12659814}.		calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACATGTACATCGTAGAGATTT	0.323																																						dbGAP											0													86.0	82.0	83.0					6																	72960709		1822	4075	5897	-	-	-	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2458C>T	6.37:g.72960709C>T	ENSP00000428417:p.Arg820Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R820C	ENST00000521978.1	37	c.2458	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.485864|4.485864	0.84854|0.84854	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.76709|.	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04|.	5.79|5.79	4.92|4.92	0.64577|0.64577	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.298396|.	0.29956|.	N|.	0.010779|.	T|T	0.65133|0.65133	0.2662|0.2662	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	B;D;B;B;B;B;B;B;B;B;B;B|.	0.76494|.	0.047;0.999;0.0;0.068;0.202;0.083;0.016;0.034;0.347;0.001;0.001;0.018|.	B;D;B;B;B;B;B;B;B;B;B;B|.	0.64144|.	0.06;0.922;0.001;0.069;0.218;0.048;0.019;0.016;0.019;0.001;0.0;0.04|.	T|T	0.67098|0.67098	-0.5756|-0.5756	10|5	0.66056|.	D|.	0.02|.	-3.3196|-3.3196	14.9855|14.9855	0.71345|0.71345	0.0:0.9312:0.0:0.0688|0.0:0.9312:0.0:0.0688	.|.	279;294;820;279;294;820;73;820;820;73;820;820|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	C|L	820;820;820;820;820;820;820;820;820;820;820;820;294;294;213;213;279;45|393	ENSP00000430101:R820C;ENSP00000275037:R820C;ENSP00000264839:R820C;ENSP00000429959:R820C;ENSP00000430408:R820C;ENSP00000430502:R820C;ENSP00000430932:R820C;ENSP00000428417:R820C;ENSP00000385649:R294C;ENSP00000428328:R294C;ENSP00000411235:R213C;ENSP00000389503:R213C;ENSP00000428367:R279C;ENSP00000359448:R45C|.	ENSP00000264839:R820C|.	R|S	+|+	1|2	0|0	RIMS1|RIMS1	73017430|73017430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.062000|6.062000	0.71155|0.71155	1.449000|1.449000	0.47699|0.47699	0.585000|0.585000	0.79938|0.79938	CGT|TCG	RIMS1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000079841		0.323	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	348	0.29	1	C			72960709	72960709	+1	no_errors	ENST00000521978	ensembl	human	known	69_37n	missense	196	11.66	26	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104948870	104948870	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:104948870G>T	ENST00000436393.2	+	11	2042	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.E662*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.E823*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.E615*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	885					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCGAAGAGAATTTCGGGA	0.383										HNSCC(12;0.0054)																												dbGAP											0													131.0	122.0	125.0					8																	104948870		1850	4086	5936	-	-	-	SO:0001587	stop_gained	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1801G>T	8.37:g.104948870G>T	ENSP00000390665:p.Glu601*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.E823*	ENST00000436393.2	37	c.2467		8	.	.	.	.	.	.	.	.	.	.	G	39	7.729285	0.98456	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9807	0.89140	0.0:0.0:1.0:0.0	.	.	.	.	X	823;838;823;885;615;662;615;615;601	.	ENSP00000262231:E662X	E	+	1	0	RIMS2	105018046	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.751000	0.98889	2.309000	0.77851	0.467000	0.42956	GAA	RIMS2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000176406		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	219	0.00	0	G	NM_001100117		104948870	104948870	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	nonsense	111	22.38	32	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104948877	104948877	+	Missense_Mutation	SNP	G	G	A	rs574267282	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:104948877G>A	ENST00000436393.2	+	11	2049	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R664Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R825Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R617Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	887					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGAATTTCGGGAACGAATG	0.383										HNSCC(12;0.0054)			G|||	3	0.000599042	0.0	0.0	5008	,	,		15076	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													136.0	126.0	130.0					8																	104948877		1851	4089	5940	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1808G>A	8.37:g.104948877G>A	ENSP00000390665:p.Arg603Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.R825Q	ENST00000436393.2	37	c.2474		8	.	.	.	.	.	.	.	.	.	.	G	33	5.241229	0.95272	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.73353	0.3576	N	0.25789	0.76	0.80722	D	1	D;P;D;P;P;P	0.65815	0.968;0.666;0.995;0.475;0.929;0.475	P;B;D;B;P;B	0.78314	0.686;0.115;0.991;0.168;0.454;0.168	T	0.77694	-0.2492	9	0.72032	D	0.01	.	17.9807	0.89140	0.0:0.0:1.0:0.0	.	887;887;603;664;617;825	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	Q	825;840;825;887;617;664;617;617;603	ENSP00000427018:R825Q;ENSP00000384892:R825Q;ENSP00000425205:R617Q;ENSP00000262231:R664Q;ENSP00000423559:R617Q;ENSP00000386228:R617Q;ENSP00000390665:R603Q	ENSP00000262231:R664Q	R	+	2	0	RIMS2	105018053	1.000000	0.71417	0.984000	0.44739	0.977000	0.68977	9.751000	0.98889	2.309000	0.77851	0.467000	0.42956	CGG	RIMS2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000176406		0.383	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	210	0.00	0	G	NM_001100117		104948877	104948877	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	88	32.82	43	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	104948941	104948941	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:104948941C>A	ENST00000436393.2	+	11	2113	c.1872C>A	c.(1870-1872)ttC>ttA	p.F624L	RIMS2_ENST00000262231.10_Missense_Mutation_p.F685L|RIMS2_ENST00000406091.3_Missense_Mutation_p.F846L|RIMS2_ENST00000507740.1_Missense_Mutation_p.F638L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	908					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGTGAATTCTTAGGCGAGG	0.353										HNSCC(12;0.0054)																												dbGAP											0													132.0	120.0	124.0					8																	104948941		1833	4086	5919	-	-	-	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1872C>A	8.37:g.104948941C>A	ENSP00000390665:p.Phe624Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.F846L	ENST00000436393.2	37	c.2538		8	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889076	0.72524	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.89	-1.92	0.07618	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.78773	0.4336	M	0.79805	2.47	0.80722	D	1	P;P;D;D;D;D	0.63046	0.842;0.666;0.98;0.992;0.987;0.992	P;P;D;D;D;D	0.79784	0.864;0.6;0.993;0.986;0.965;0.986	T	0.78703	-0.2101	9	0.87932	D	0	.	11.006	0.47635	0.0:0.2069:0.0:0.7931	.	908;908;624;685;638;846	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	L	846;861;846;908;638;685;638;638;624	ENSP00000427018:F846L;ENSP00000384892:F846L;ENSP00000425205:F638L;ENSP00000262231:F685L;ENSP00000423559:F638L;ENSP00000386228:F638L;ENSP00000390665:F624L	ENSP00000262231:F685L	F	+	3	2	RIMS2	105018117	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	0.741000	0.26202	-0.327000	0.08551	0.467000	0.42956	TTC	RIMS2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000176406		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	116	0.00	0	C	NM_001100117		104948941	104948941	+1	no_errors	ENST00000406091	ensembl	human	known	69_37n	missense	77	10.47	9	SNP	1.000	A
RIN3	79890	genome.wustl.edu	37	14	93119036	93119036	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:93119036G>A	ENST00000216487.7	+	6	1801	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	548					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACCGACCAGGACTCCTACTC	0.637																																						dbGAP											0													43.0	39.0	41.0					14																	93119036		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1642G>A	14.37:g.93119036G>A	ENSP00000216487:p.Asp548Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.D548N	ENST00000216487.7	37	c.1642	CCDS32144.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.166929|4.166929	0.78339|0.78339	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000216487;ENST00000428147|ENST00000556418	T|.	0.10668|.	2.85|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.123119|.	0.53938|.	D|.	0.000042|.	T|T	0.73329|0.73329	0.3573|0.3573	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.989;0.984;0.997|.	T|T	0.73820|0.73820	-0.3862|-0.3862	10|5	0.39692|.	T|.	0.17|.	-28.8303|-28.8303	17.4162|17.4162	0.87500|0.87500	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	548;594;473;548|.	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24|.	.;.;.;RIN3_HUMAN|.	N|E	548;472|64	ENSP00000216487:D548N|.	ENSP00000216487:D548N|.	D|G	+|+	1|2	0|0	RIN3|RIN3	92188789|92188789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.850000|0.850000	0.48378|0.48378	9.649000|9.649000	0.98487|0.98487	2.117000|2.117000	0.64856|0.64856	0.561000|0.561000	0.74099|0.74099	GAC|GGA	RIN3	-	NULL	ENSG00000100599		0.637	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	27	0.00	0	G			93119036	93119036	+1	no_errors	ENST00000216487	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	A
RLF	6018	genome.wustl.edu	37	1	40702532	40702532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:40702532C>T	ENST00000372771.4	+	8	2185	c.2158C>T	c.(2158-2160)Cga>Tga	p.R720*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	720					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TACTTACTGTCGACGACATTT	0.383																																						dbGAP											0													117.0	118.0	118.0					1																	40702532		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2158C>T	1.37:g.40702532C>T	ENSP00000361857:p.Arg720*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R720*	ENST00000372771.4	37	c.2158	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.337650	0.95758	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2224	14.1492	0.65370	0.2615:0.7385:0.0:0.0	.	.	.	.	X	720;413	.	ENSP00000361857:R720X	R	+	1	2	RLF	40475119	0.996000	0.38824	0.998000	0.56505	0.985000	0.73830	1.667000	0.37471	2.941000	0.99782	0.655000	0.94253	CGA	RLF	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	128	0.00	0	C	NM_012421		40702532	40702532	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	nonsense	96	20.00	24	SNP	1.000	T
RLF	6018	genome.wustl.edu	37	1	40702682	40702682	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:40702682C>T	ENST00000372771.4	+	8	2335	c.2308C>T	c.(2308-2310)Cgt>Tgt	p.R770C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	770					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGACGATCTGCGTTACAAATG	0.383																																						dbGAP											0													139.0	131.0	134.0					1																	40702682		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2308C>T	1.37:g.40702682C>T	ENSP00000361857:p.Arg770Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R770C	ENST00000372771.4	37	c.2308	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669989	0.47677	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15487	2.42	6.17	6.17	0.99709	Zinc finger, C2H2 (1);	0.342654	0.39834	N	0.001260	T	0.43787	0.1263	M	0.62209	1.925	0.49389	D	0.99978	D;D	0.89917	1.0;1.0	D;P	0.79108	0.992;0.854	T	0.08597	-1.0714	10	0.87932	D	0	-20.9207	20.8794	0.99867	0.0:1.0:0.0:0.0	.	463;770	F5H2M5;Q13129	.;RLF_HUMAN	C	770;463	ENSP00000361857:R770C	ENSP00000361857:R770C	R	+	1	0	RLF	40475269	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.542000	0.60677	2.941000	0.99782	0.655000	0.94253	CGT	RLF	-	pfscan_Znf_C2H2	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	95	0.00	0	C	NM_012421		40702682	40702682	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	78	24.04	25	SNP	0.985	T
RNASE11	122651	genome.wustl.edu	37	14	21052475	21052475	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21052475C>G	ENST00000610205.1	-	3	342	c.159G>C	c.(157-159)atG>atC	p.M53I	RNASE11_ENST00000432835.2_Missense_Mutation_p.M53I|RNASE11_ENST00000398008.2_Missense_Mutation_p.M53I|RNASE11_ENST00000398009.2_Missense_Mutation_p.M53I|RNASE11_ENST00000555841.1_Missense_Mutation_p.M53I|RNASE11_ENST00000553849.1_Missense_Mutation_p.M53I	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	53						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GGATCGGGTTCATTAATATCT	0.358																																						dbGAP											0													216.0	204.0	208.0					14																	21052475		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.159G>C	14.37:g.21052475C>G	ENSP00000476537:p.Met53Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.M53I	ENST00000610205.1	37	c.159	CCDS9553.1	14	.	.	.	.	.	.	.	.	.	.	C	0.735	-0.778609	0.02929	.	.	ENSG00000173464	ENST00000335950;ENST00000553849;ENST00000555841;ENST00000398009;ENST00000398008;ENST00000432835;ENST00000443456;ENST00000557503;ENST00000557105;ENST00000413502;ENST00000554842	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.09	1.09	0.20402	.	0.718722	0.12114	N	0.498280	T	0.14787	0.0357	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.09377	0.004	T	0.25117	-1.0141	10	0.22706	T	0.39	-5.8484	2.9908	0.05982	0.215:0.5471:0.0:0.2379	.	53	Q8TAA1	RNS11_HUMAN	I	53	ENSP00000338288:M53I;ENSP00000451318:M53I;ENSP00000451563:M53I;ENSP00000381093:M53I;ENSP00000381092:M53I;ENSP00000395210:M53I;ENSP00000401398:M53I;ENSP00000451839:M53I;ENSP00000452412:M53I;ENSP00000415954:M53I;ENSP00000451466:M53I	ENSP00000338288:M53I	M	-	3	0	RNASE11	20122315	0.050000	0.20438	0.001000	0.08648	0.075000	0.17131	0.378000	0.20569	0.228000	0.21019	0.511000	0.50034	ATG	RNASE11	-	NULL	ENSG00000173464		0.358	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE11	HGNC	protein_coding	OTTHUMT00000073662.3	366	0.00	0	C	NM_145250		21052475	21052475	-1	no_errors	ENST00000335950	ensembl	human	known	69_37n	missense	251	16.28	49	SNP	0.002	G
RNASE7	84659	genome.wustl.edu	37	14	21511424	21511424	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21511424G>T	ENST00000298690.4	+	2	530	c.273G>T	c.(271-273)aaG>aaT	p.K91N	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	91					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TAGCCTGCAAGAATGGCGATA	0.547																																						dbGAP											0													97.0	96.0	96.0					14																	21511424		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.273G>T	14.37:g.21511424G>T	ENSP00000298690:p.Lys91Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	P80927|P83685|Q546N3	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.K91N	ENST00000298690.4	37	c.273	CCDS41914.1	14	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997739	0.54147	.	.	ENSG00000165799	ENST00000298690	T	0.16073	2.37	5.09	5.09	0.68999	Ribonuclease A, domain (4);	0.579078	0.14827	U	0.296129	T	0.48995	0.1531	M	0.89287	3.02	0.37164	D	0.902721	D	0.89917	1.0	D	0.91635	0.999	T	0.58945	-0.7546	10	0.72032	D	0.01	-27.0966	13.8609	0.63559	0.0:0.0:1.0:0.0	.	91	Q9H1E1	RNAS7_HUMAN	N	91	ENSP00000298690:K91N	ENSP00000298690:K91N	K	+	3	2	RNASE7	20581264	1.000000	0.71417	0.986000	0.45419	0.117000	0.20001	2.769000	0.47654	2.652000	0.90054	0.655000	0.94253	AAG	RNASE7	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	ENSG00000165799		0.547	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE7	HGNC	protein_coding	OTTHUMT00000313936.1	330	0.00	0	G	NM_032572		21511424	21511424	+1	no_errors	ENST00000298690	ensembl	human	known	69_37n	missense	351	10.69	42	SNP	0.993	T
RND3	390	genome.wustl.edu	37	2	151326710	151326710	+	Missense_Mutation	SNP	C	C	T	rs536121901		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:151326710C>T	ENST00000375734.2	-	5	775	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.E47K|RND3_ENST00000263895.4_Missense_Mutation_p.E176K	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	176					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCTGAGCATTCGATATAAGTA	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19437	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													102.0	97.0	98.0					2																	151326710		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.526G>A	2.37:g.151326710C>T	ENSP00000364886:p.Glu176Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP95|P52199	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E176K	ENST00000375734.2	37	c.526	CCDS2190.1	2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825250	0.90955	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	D;D;D	0.82893	-1.66;-1.66;-1.66	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.93559	0.7944	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	0.986;1.0;1.0	D;D;D	0.97110	0.956;1.0;1.0	D	0.94436	0.7654	10	0.87932	D	0	-1.4595	19.0713	0.93138	0.0:1.0:0.0:0.0	.	39;175;176	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	K	176;176;47	ENSP00000364886:E176K;ENSP00000263895:E176K;ENSP00000386576:E47K	ENSP00000263895:E176K	E	-	1	0	RND3	151034956	1.000000	0.71417	0.984000	0.44739	0.947000	0.59692	7.814000	0.86154	2.751000	0.94390	0.650000	0.86243	GAA	RND3	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase	ENSG00000115963		0.408	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RND3	HGNC	protein_coding	OTTHUMT00000254809.1	320	0.31	1	C	NM_005168		151326710	151326710	-1	no_errors	ENST00000263895	ensembl	human	known	69_37n	missense	199	11.89	27	SNP	1.000	T
RNF10	9921	genome.wustl.edu	37	12	121002970	121002970	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:121002970G>T	ENST00000325954.4	+	11	2222	c.1761G>T	c.(1759-1761)aaG>aaT	p.K587N	RNF10_ENST00000413266.2_Missense_Mutation_p.K592N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	587					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTCTCTAAGGAAACCCTAG	0.502																																						dbGAP											0													139.0	134.0	135.0					12																	121002970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1761G>T	12.37:g.121002970G>T	ENSP00000322242:p.Lys587Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K592N	ENST00000325954.4	37	c.1776	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814681	0.32053	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.93	2.15	0.27550	.	0.191755	0.56097	D	0.000038	T	0.34135	0.0887	L	0.55103	1.725	0.58432	D	0.999994	D;P	0.59357	0.985;0.947	P;P	0.54590	0.756;0.466	T	0.02004	-1.1231	10	0.38643	T	0.18	.	10.5401	0.45029	0.2568:0.0:0.7432:0.0	.	592;587	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	N	587;587;592;35;131	ENSP00000322242:K587N;ENSP00000415682:K592N;ENSP00000439221:K35N;ENSP00000439859:K131N	ENSP00000322242:K587N	K	+	3	2	RNF10	119487353	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	0.937000	0.28951	0.138000	0.18790	0.655000	0.94253	AAG	RNF10	-	NULL	ENSG00000022840		0.502	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	254	0.00	0	G			121002970	121002970	+1	no_errors	ENST00000413266	ensembl	human	known	69_37n	missense	171	27.23	64	SNP	1.000	T
RNF103	7844	genome.wustl.edu	37	2	86847539	86847539	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:86847539C>T	ENST00000237455.4	-	2	1248	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Missense_Mutation_p.E16K|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.E16K|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	94					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E94K(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAACCGATTCGGATGCTTCT	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											93.0	90.0	91.0					2																	86847539		2203	4300	6503	-	-	-	SO:0001583	missense	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.280G>A	2.37:g.86847539C>T	ENSP00000237455:p.Glu94Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.E94K	ENST00000237455.4	37	c.280	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.412267	0.96072	.	.	ENSG00000115561;ENSG00000249884;ENSG00000239305	ENST00000439940;ENST00000440757;ENST00000237455	D;T;T	0.92249	-3.0;-1.25;0.83	5.96	5.96	0.96718	.	0.047576	0.85682	D	0.000000	D	0.90525	0.7031	L	0.51422	1.61	0.58432	D	0.99999	P;D	0.54964	0.935;0.969	B;B	0.40636	0.212;0.335	D	0.91155	0.4956	10	0.62326	D	0.03	-14.7187	20.422	0.99049	0.0:1.0:0.0:0.0	.	16;94	Q9Y3E7-3;O00237	.;RN103_HUMAN	K	16;94;94	ENSP00000405575:E16K;ENSP00000392995:E94K;ENSP00000237455:E94K	ENSP00000237455:E94K	E	-	1	0	RNF103;VPS24;RNF103-VPS24	86701050	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.484000	0.66844	2.832000	0.97577	0.655000	0.94253	GAA	RNF103	-	NULL	ENSG00000239305		0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	156	0.00	0	C	NM_005667		86847539	86847539	-1	no_errors	ENST00000237455	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	1.000	T
RNF111	54778	genome.wustl.edu	37	15	59323732	59323732	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:59323732G>T	ENST00000557998.1	+	2	998	c.711G>T	c.(709-711)aaG>aaT	p.K237N	RNF111_ENST00000348370.4_Missense_Mutation_p.K237N|RNF111_ENST00000561186.1_Missense_Mutation_p.K237N|RNF111_ENST00000434298.1_Missense_Mutation_p.K237N|RNF111_ENST00000559209.1_Missense_Mutation_p.K237N	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	237					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TGCAGAGGAAGAAACGAGAAG	0.403																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											0													138.0	138.0	138.0					15																	59323732		2192	4291	6483	-	-	-	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.711G>T	15.37:g.59323732G>T	ENSP00000452732:p.Lys237Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K237N	ENST00000557998.1	37	c.711	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472032	0.63737	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.19532	2.14;2.14	5.28	-5.49	0.02584	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.54323	1.7	0.54753	D	0.99998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.29366	-1.0014	10	0.87932	D	0	0.0859	16.8491	0.85989	0.3759:0.0:0.6241:0.0	.	237;237;237	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	N	237	ENSP00000288199:K237N;ENSP00000393641:K237N	ENSP00000288199:K237N	K	+	3	2	RNF111	57111024	1.000000	0.71417	0.905000	0.35620	0.993000	0.82548	1.347000	0.33975	-1.089000	0.03073	-0.312000	0.09012	AAG	RNF111	-	NULL	ENSG00000157450		0.403	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	361	0.00	0	G	NM_017610		59323732	59323732	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	missense	264	12.00	36	SNP	0.937	T
RNF111	54778	genome.wustl.edu	37	15	59368259	59368259	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:59368259G>A	ENST00000557998.1	+	7	2080	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	RNF111_ENST00000348370.4_Missense_Mutation_p.R598Q|RNF111_ENST00000561186.1_Missense_Mutation_p.R598Q|RNF111_ENST00000434298.1_Missense_Mutation_p.R598Q|RNF111_ENST00000559209.1_Missense_Mutation_p.R598Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	598					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCTTCCTCCCGAGCTGCAATC	0.537																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											0													90.0	83.0	85.0					15																	59368259		2192	4291	6483	-	-	-	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1793G>A	15.37:g.59368259G>A	ENSP00000452732:p.Arg598Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R598Q	ENST00000557998.1	37	c.1793	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.737799	0.96865	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.21191	2.04;2.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.996	T	0.05289	-1.0894	10	0.51188	T	0.08	-13.2176	20.1225	0.97967	0.0:0.0:1.0:0.0	.	598;598;598	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	Q	598	ENSP00000288199:R598Q;ENSP00000393641:R598Q	ENSP00000288199:R598Q	R	+	2	0	RNF111	57155551	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.146000	0.94640	2.831000	0.97527	0.650000	0.86243	CGA	RNF111	-	NULL	ENSG00000157450		0.537	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	96	0.00	0	G	NM_017610		59368259	59368259	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	missense	85	14.85	15	SNP	1.000	A
RNF123	63891	genome.wustl.edu	37	3	49753111	49753111	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:49753111C>A	ENST00000327697.6	+	32	3258	c.3114C>A	c.(3112-3114)aaC>aaA	p.N1038K	RNF123_ENST00000433785.1_Missense_Mutation_p.N150K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1038					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ATCAGCTCAACTGGGCCTTCT	0.607																																						dbGAP											0													104.0	92.0	96.0					3																	49753111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3114C>A	3.37:g.49753111C>A	ENSP00000328287:p.Asn1038Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.N1038K	ENST00000327697.6	37	c.3114	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645308	0.87859	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.64085	-0.08;-0.08	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.77945	-0.2397	10	0.87932	D	0	-37.3246	13.1747	0.59619	0.0:0.9237:0.0:0.0763	.	1038	Q5XPI4	RN123_HUMAN	K	1038;1038;150	ENSP00000328287:N1038K;ENSP00000416156:N150K	ENSP00000328287:N1038K	N	+	3	2	RNF123	49728115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.564000	0.60830	2.679000	0.91253	0.655000	0.94253	AAC	RNF123	-	NULL	ENSG00000164068		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	54	0.00	0	C	NM_022064		49753111	49753111	+1	no_errors	ENST00000327697	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	A
RNF135	84282	genome.wustl.edu	37	17	29326194	29326194	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:29326194G>A	ENST00000328381.5	+	5	2157	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	428	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TGATAATAAAGCAAGTAAAGG	0.438																																						dbGAP											1	Unknown(1)	central_nervous_system(1)											69.0	72.0	71.0					17																	29326194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1284G>A	17.37:g.29326194G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.K428	ENST00000328381.5	37	c.1284	CCDS11262.1	17																																																																																			RNF135	-	superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000181481		0.438	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF135	HGNC	protein_coding	OTTHUMT00000256342.3	135	0.00	0	G	NM_032322		29326194	29326194	+1	no_errors	ENST00000328381	ensembl	human	known	69_37n	silent	105	12.50	15	SNP	0.002	A
RNF145	153830	genome.wustl.edu	37	5	158601156	158601156	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:158601156A>G	ENST00000424310.2	-	6	991	c.632T>C	c.(631-633)gTa>gCa	p.V211A	RNF145_ENST00000518802.1_Missense_Mutation_p.V241A|RNF145_ENST00000274542.2_Missense_Mutation_p.V239A|RNF145_ENST00000519865.1_Missense_Mutation_p.V211A|RNF145_ENST00000520638.1_Missense_Mutation_p.V225A|RNF145_ENST00000521606.2_Missense_Mutation_p.V228A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	211						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGGCCATATACCTCCACTAC	0.373																																						dbGAP											0													68.0	62.0	64.0					5																	158601156		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.632T>C	5.37:g.158601156A>G	ENSP00000409064:p.Val211Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.V239A	ENST00000424310.2	37	c.716	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309516	0.60414	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.78126	-1.15;-1.13;-1.13;-1.14;-1.14;-1.15;-1.14	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P;B	0.36086	0.476;0.476;0.476;0.476;0.536;0.42	B;B;B;B;B;B	0.39660	0.159;0.159;0.159;0.159;0.306;0.099	T	0.72928	-0.4143	10	0.46703	T	0.11	-11.7644	15.4247	0.75041	1.0:0.0:0.0:0.0	.	227;228;225;241;211;239	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	A	239;211;211;227;228;241;211;225	ENSP00000274542:V239A;ENSP00000430397:V211A;ENSP00000409064:V211A;ENSP00000430753:V227A;ENSP00000445115:V228A;ENSP00000430955:V241A;ENSP00000429071:V225A	ENSP00000274542:V239A	V	-	2	0	RNF145	158533734	1.000000	0.71417	0.991000	0.47740	0.782000	0.44232	9.287000	0.95975	2.106000	0.64143	0.455000	0.32223	GTA	RNF145	-	NULL	ENSG00000145860		0.373	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	137	0.00	0	A	NM_144726		158601156	158601156	-1	no_errors	ENST00000274542	ensembl	human	known	69_37n	missense	96	32.41	47	SNP	0.999	G
RNF146	81847	genome.wustl.edu	37	6	127607966	127607966	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:127607966C>T	ENST00000368314.1	+	3	632	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	RNF146_ENST00000610153.1_Missense_Mutation_p.R70W|RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.R69W|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.R69W	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	70					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCTTGGAAAGCGGTGTGCTCT	0.458																																						dbGAP											0													140.0	119.0	126.0					6																	127607966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.208C>T	6.37:g.127607966C>T	ENSP00000357297:p.Arg70Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.R70W	ENST00000368314.1	37	c.208	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565580	0.65651	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	D;D;D	0.86366	-2.11;-2.11;-2.11	5.6	4.72	0.59763	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93263	0.6645	10	0.87932	D	0	1.2613	15.7436	0.77920	0.1375:0.8625:0.0:0.0	.	70	Q9NTX7	RN146_HUMAN	W	70;69;69	ENSP00000357297:R70W;ENSP00000349253:R69W;ENSP00000309365:R69W	ENSP00000309365:R69W	R	+	1	2	RNF146	127649659	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	3.860000	0.55995	1.325000	0.45301	0.655000	0.94253	CGG	RNF146	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000118518		0.458	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	298	0.00	0	C	NM_030963		127607966	127607966	+1	no_errors	ENST00000368314	ensembl	human	known	69_37n	missense	165	13.85	27	SNP	1.000	T
RNF17	56163	genome.wustl.edu	37	13	25370278	25370278	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:25370278C>A	ENST00000255324.5	+	11	1296	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	RNF17_ENST00000255325.6_Missense_Mutation_p.S415Y|RNF17_ENST00000381921.1_Missense_Mutation_p.S415Y|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	415					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATCCAGGTTCTGCAGAGCTA	0.343																																						dbGAP											0													104.0	105.0	105.0					13																	25370278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1244C>A	13.37:g.25370278C>A	ENSP00000255324:p.Ser415Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.S415Y	ENST00000255324.5	37	c.1244	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785120	0.31593	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.19806	3.4;3.4;2.12	5.2	2.47	0.30058	.	0.430315	0.22337	N	0.061399	T	0.19406	0.0466	N	0.19112	0.55	0.80722	D	1	D;D	0.52996	0.957;0.957	P;P	0.54210	0.745;0.745	T	0.02404	-1.1164	10	0.30078	T	0.28	.	8.4301	0.32753	0.0:0.6503:0.2658:0.0839	.	415;415	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	Y	415;415;274;416	ENSP00000255324:S415Y;ENSP00000371346:S415Y;ENSP00000255325:S416Y	ENSP00000255324:S415Y	S	+	2	0	RNF17	24268278	1.000000	0.71417	0.990000	0.47175	0.081000	0.17604	1.338000	0.33873	0.314000	0.23086	-0.136000	0.14681	TCT	RNF17	-	NULL	ENSG00000132972		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	267	0.37	1	C	NM_031994		25370278	25370278	+1	no_errors	ENST00000255324	ensembl	human	known	69_37n	missense	183	18.67	42	SNP	1.000	A
RNF2	6045	genome.wustl.edu	37	1	185060751	185060751	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:185060751G>A	ENST00000367510.3	+	3	416	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	RNF2_ENST00000367509.4_Missense_Mutation_p.R43Q	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	43	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTTTCACCTCGAAGTCTACAC	0.353																																						dbGAP											0													170.0	159.0	163.0					1																	185060751		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.128G>A	1.37:g.185060751G>A	ENSP00000356480:p.Arg43Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R43Q	ENST00000367510.3	37	c.128	CCDS1365.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.451539	0.96205	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T;T	0.67865	1.92;-0.29;1.92	4.87	4.87	0.63330	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	L	0.58510	1.815	0.80722	D	1	D;D	0.76494	0.996;0.999	P;P	0.55545	0.778;0.667	T	0.75013	-0.3467	10	0.40728	T	0.16	-18.4266	18.3676	0.90397	0.0:0.0:1.0:0.0	.	43;43	B3KRH1;Q99496	.;RING2_HUMAN	Q	43	ENSP00000356480:R43Q;ENSP00000356479:R43Q;ENSP00000400722:R43Q	ENSP00000356479:R43Q	R	+	2	0	RNF2	183327374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.242000	0.95408	2.419000	0.82065	0.650000	0.86243	CGA	RNF2	-	NULL	ENSG00000121481		0.353	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1	325	0.00	0	G	NM_007212		185060751	185060751	+1	no_errors	ENST00000367510	ensembl	human	known	69_37n	missense	237	25.47	81	SNP	1.000	A
RNF2	6045	genome.wustl.edu	37	1	185062237	185062237	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:185062237G>T	ENST00000367510.3	+	4	581	c.293G>T	c.(292-294)aGa>aTa	p.R98I	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	98	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GTTTCCAAAAGATCACTAAGG	0.393																																						dbGAP											0													92.0	87.0	89.0					1																	185062237		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.293G>T	1.37:g.185062237G>T	ENSP00000356480:p.Arg98Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R98I	ENST00000367510.3	37	c.293	CCDS1365.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602762	0.87157	.	.	ENSG00000121481	ENST00000367510;ENST00000453650	T;T	0.22134	1.97;1.97	5.24	5.24	0.73138	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66152	-0.5995	10	0.87932	D	0	0.1566	19.1921	0.93671	0.0:0.0:1.0:0.0	.	98	Q99496	RING2_HUMAN	I	98	ENSP00000356480:R98I;ENSP00000400722:R98I	ENSP00000356480:R98I	R	+	2	0	RNF2	183328860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.286000	0.78671	2.595000	0.87683	0.650000	0.86243	AGA	RNF2	-	NULL	ENSG00000121481		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1	280	0.00	0	G	NM_007212		185062237	185062237	+1	no_errors	ENST00000367510	ensembl	human	known	69_37n	missense	199	26.47	72	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78321589	78321589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78321589G>T	ENST00000582970.1	+	29	9597	c.9454G>T	c.(9454-9456)Gaa>Taa	p.E3152*	RNF213_ENST00000336301.6_Nonsense_Mutation_p.E1225*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.E3201*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3152					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATTGTCATTGAAGAGAAAGA	0.542																																						dbGAP											0													58.0	54.0	56.0					17																	78321589		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9454G>T	17.37:g.78321589G>T	ENSP00000464087:p.Glu3152*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E3152*	ENST00000582970.1	37	c.9454	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	50	17.245919	0.99882	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.14	5.14	0.70334	.	0.119129	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.9568	0.92661	0.0:0.0:1.0:0.0	.	.	.	.	X	3152;3201;1225	.	ENSP00000338218:E1225X	E	+	1	0	RNF213	75936184	1.000000	0.71417	0.877000	0.34402	0.125000	0.20455	9.592000	0.98245	2.542000	0.85734	0.563000	0.77884	GAA	RNF213	-	NULL	ENSG00000173821		0.542	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	46	0.00	0	G	NM_020914		78321589	78321589	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	nonsense	17	26.09	6	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78326788	78326788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78326788delT	ENST00000582970.1	+	33	10495	c.10352delT	c.(10351-10353)atgfs	p.M3451fs	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Frame_Shift_Del_p.M1524fs|RNF213_ENST00000508628.2_Frame_Shift_Del_p.M3500fs|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3451					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCACCCTCATGGTTTCTGAT	0.602																																						dbGAP											0													99.0	91.0	94.0					17																	78326788		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10352delT	17.37:g.78326788delT	ENSP00000464087:p.Met3451fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.M3451fs	ENST00000582970.1	37	c.10352	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.602	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	70	0.00	0	T	NM_020914		78326788	78326788	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	frame_shift_del	47	25.00	16	DEL	1.000	-
RNF213	57674	genome.wustl.edu	37	17	78326791	78326792	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78326791_78326792insA	ENST00000582970.1	+	33	10498_10499	c.10355_10356insA	c.(10354-10359)gtttctfs	p.S3453fs	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Frame_Shift_Ins_p.S1526fs|RNF213_ENST00000508628.2_Frame_Shift_Ins_p.S3502fs|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3453					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCCTCATGGTTTCTGATGTGA	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		Exception_encountered	17.37:g.78326791_78326792insA	ENSP00000464087:p.Ser3453fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Ins	INS	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S3453fs	ENST00000582970.1	37	c.10355_10356	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.604	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	66	0.00	0	-	NM_020914		78326791	78326792	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	frame_shift_ins	47	25.40	16	INS	0.997:0.918	A
RNF213	57674	genome.wustl.edu	37	17	78351596	78351596	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:78351596G>A	ENST00000582970.1	+	54	13688	c.13545G>A	c.(13543-13545)gaG>gaA	p.E4515E	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Splice_Site_p.E2588E|RNF213_ENST00000508628.2_Splice_Site_p.E4564E|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4515					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGTGGGAGAGGTGAGTCTTG	0.547																																						dbGAP											0													281.0	242.0	255.0					17																	78351596		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13545+1G>A	17.37:g.78351596G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E4515	ENST00000582970.1	37	c.13545	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	218	0.00	0	G	NM_020914	Silent	78351596	78351596	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	111	18.98	26	SNP	1.000	A
RNF214	257160	genome.wustl.edu	37	11	117109324	117109324	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:117109324G>A	ENST00000531452.1	+	3	161	c.115G>A	c.(115-117)Gac>Aac	p.D39N	RNF214_ENST00000300650.4_Missense_Mutation_p.D39N|RNF214_ENST00000531287.1_Missense_Mutation_p.D39N|RNF214_ENST00000530849.1_Missense_Mutation_p.D39N	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	39							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TAGCACCAAAGACTCTGCACA	0.388																																						dbGAP											0													110.0	117.0	115.0					11																	117109324		1878	4104	5982	-	-	-	SO:0001583	missense	0			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.115G>A	11.37:g.117109324G>A	ENSP00000431643:p.Asp39Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUW0|B4DTD1	Missense_Mutation	SNP	pfscan_Znf_RING	p.D39N	ENST00000531452.1	37	c.115	CCDS41720.1	11	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449422	0.63178	.	.	ENSG00000167257	ENST00000534428;ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.62639	2.61;0.01;2.61;0.01	5.6	5.6	0.85130	.	.	.	.	.	T	0.71247	0.3317	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.71674	0.996;0.998	D;D	0.78314	0.981;0.991	T	0.73534	-0.3952	9	0.87932	D	0	-7.7785	15.1129	0.72372	0.0:0.0:1.0:0.0	.	39;39	B4DTD1;Q8ND24	.;RN214_HUMAN	N	39	ENSP00000435361:D39N;ENSP00000431643:D39N;ENSP00000432903:D39N;ENSP00000300650:D39N	ENSP00000300650:D39N	D	+	1	0	RNF214	116614534	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	4.853000	0.62911	2.635000	0.89317	0.655000	0.94253	GAC	RNF214	-	NULL	ENSG00000167257		0.388	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	67	0.00	0	G	NM_001077239		117109324	117109324	+1	no_errors	ENST00000300650	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	1.000	A
RNF41	10193	genome.wustl.edu	37	12	56600452	56600452	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:56600452C>T	ENST00000345093.4	-	7	1102	c.733G>A	c.(733-735)Gag>Aag	p.E245K	RNF41_ENST00000394013.2_Missense_Mutation_p.E174K|RNF41_ENST00000552656.1_Missense_Mutation_p.E245K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	245					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCAATCAGCTCGTTGACAATA	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													87.0	75.0	79.0					12																	56600452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.733G>A	12.37:g.56600452C>T	ENSP00000342755:p.Glu245Lys	Somatic	1016	WXS	Illumina GAIIx	Phase_IV	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E245K	ENST00000345093.4	37	c.733	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487509	0.44249	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.08634	3.07;3.07	5.45	5.45	0.79879	USP8 interacting (1);	0.166180	0.56097	D	0.000027	T	0.05410	0.0143	N	0.14661	0.345	0.80722	D	1	P;B	0.52463	0.953;0.057	B;B	0.38458	0.274;0.008	T	0.51787	-0.8661	10	0.11182	T	0.66	-18.2105	18.4487	0.90695	0.0:1.0:0.0:0.0	.	232;245	B4E353;Q9H4P4	.;RNF41_HUMAN	K	245;174;232;245	ENSP00000342755:E245K;ENSP00000447303:E245K	ENSP00000342755:E245K	E	-	1	0	RNF41	54886719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.996000	0.70639	2.722000	0.93159	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting	ENSG00000181852		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	120	0.00	0	C	NM_005785		56600452	56600452	-1	no_errors	ENST00000345093	ensembl	human	known	69_37n	missense	142	12.27	20	SNP	1.000	T
RNF8	9025	genome.wustl.edu	37	6	37336594	37336594	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:37336594A>G	ENST00000373479.4	+	3	768	c.575A>G	c.(574-576)aAa>aGa	p.K192R	RNF8_ENST00000469731.1_Missense_Mutation_p.K192R|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	192					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TCACAGGGGAAAGGTGAAGTG	0.483																																						dbGAP											0													77.0	78.0	77.0					6																	37336594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.575A>G	6.37:g.37336594A>G	ENSP00000362578:p.Lys192Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING	p.K192R	ENST00000373479.4	37	c.575	CCDS4834.1	6	.	.	.	.	.	.	.	.	.	.	A	0.413	-0.912033	0.02415	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.82711	-1.64;0.86;0.88	6.07	-0.785	0.10950	.	0.993517	0.08183	N	0.985086	T	0.41190	0.1148	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12682	-1.0538	10	0.19147	T	0.46	0.0882	1.8111	0.03090	0.3906:0.1356:0.341:0.1328	.	135;192	C9J858;O76064	.;RNF8_HUMAN	R	192;135;192	ENSP00000362578:K192R;ENSP00000417736:K135R;ENSP00000418879:K192R	ENSP00000362578:K192R	K	+	2	0	RNF8	37444572	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.782000	0.26788	-0.080000	0.12685	-2.025000	0.00428	AAA	RNF8	-	pirsf_E3_Ub_ligase_RNF8	ENSG00000112130		0.483	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	HGNC	protein_coding	OTTHUMT00000040403.2	116	0.00	0	A			37336594	37336594	+1	no_errors	ENST00000373479	ensembl	human	known	69_37n	missense	94	16.81	19	SNP	0.000	G
RNFT1	51136	genome.wustl.edu	37	17	58039977	58039977	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:58039977C>T	ENST00000305783.8	-	3	570	c.515G>A	c.(514-516)gGa>gAa	p.G172E	RP11-178C3.1_ENST00000591035.1_Intron|RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	172						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			AAGAGAAATTCCTGTTAGAAA	0.259																																						dbGAP											0													35.0	41.0	39.0					17																	58039977		2193	4253	6446	-	-	-	SO:0001630	splice_region_variant	0			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.515-1G>A	17.37:g.58039977C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G172E	ENST00000305783.8	37	c.515	CCDS11622.2	17	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519449	0.85495	.	.	ENSG00000189050	ENST00000305783	T	0.60299	0.2	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	T	0.77245	-0.2659	10	0.49607	T	0.09	.	19.4821	0.95014	0.0:1.0:0.0:0.0	.	172;172;172	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	E	172	ENSP00000304670:G172E	ENSP00000304670:G172E	G	-	2	0	RNFT1	55394759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.342000	0.72982	2.578000	0.87016	0.591000	0.81541	GGA	RNFT1	-	NULL	ENSG00000189050		0.259	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT1	HGNC	protein_coding	OTTHUMT00000308958.1	46	0.00	0	C	NM_016125	Missense_Mutation	58039977	58039977	-1	no_errors	ENST00000305783	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	T
RNFT2	84900	genome.wustl.edu	37	12	117217071	117217071	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:117217071A>C	ENST00000257575.4	+	7	1033	c.800A>C	c.(799-801)gAc>gCc	p.D267A	RNU6-558P_ENST00000364512.1_RNA|RNFT2_ENST00000392549.2_Missense_Mutation_p.D267A|RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Missense_Mutation_p.D267A			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	267						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGGATCGCAGACTTTGTTCTG	0.552																																						dbGAP											0													229.0	192.0	204.0					12																	117217071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.800A>C	12.37:g.117217071A>C	ENSP00000257575:p.Asp267Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAM7|Q96SU5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D267A	ENST00000257575.4	37	c.800	CCDS44987.1	12	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149943	0.78001	.	.	ENSG00000135119	ENST00000257575;ENST00000407967;ENST00000392549	T;T	0.66638	-0.22;-0.22	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.991;0.998	T	0.83267	-0.0045	10	0.66056	D	0.02	-46.2405	14.2683	0.66135	1.0:0.0:0.0:0.0	.	267;267	Q96EX2;E9PAM7	RNFT2_HUMAN;.	A	267	ENSP00000257575:D267A;ENSP00000376332:D267A	ENSP00000257575:D267A	D	+	2	0	RNFT2	115701454	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	8.471000	0.90403	1.974000	0.57490	0.459000	0.35465	GAC	RNFT2	-	NULL	ENSG00000135119		0.552	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	HGNC	protein_coding	OTTHUMT00000320417.1	374	0.00	0	A	NM_032814		117217071	117217071	+1	no_errors	ENST00000257575	ensembl	human	known	69_37n	missense	265	34.16	138	SNP	1.000	C
ROBO2	6092	genome.wustl.edu	37	3	77572051	77572051	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:77572051G>A	ENST00000461745.1	+	6	1832	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.R327Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R311Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	311					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTCACCGTCCGAGGTAAGAGA	0.363																																						dbGAP											0													103.0	98.0	99.0					3																	77572051		1840	4079	5919	-	-	-	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.932G>A	3.37:g.77572051G>A	ENSP00000417164:p.Arg311Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R311Q	ENST00000461745.1	37	c.932	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042549	0.55003	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.71817	-0.6;-0.6;-0.6	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.000000	0.38111	N	0.001819	T	0.61788	0.2375	N	0.01128	-1	0.32368	N	0.5562050000000001	D;D;D	0.64830	0.99;0.994;0.99	P;D;P	0.64144	0.837;0.922;0.772	T	0.71269	-0.4643	9	0.22706	T	0.39	.	20.2556	0.98417	0.0:0.0:1.0:0.0	.	327;311;311	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	327;327;327;311;311;28	ENSP00000417335:R327Q;ENSP00000417164:R311Q;ENSP00000327536:R311Q	ENSP00000327536:R311Q	R	+	2	0	ROBO2	77654741	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	5.979000	0.70508	2.791000	0.96007	0.655000	0.94253	CGA	ROBO2	-	smart_Ig_sub	ENSG00000185008		0.363	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	335	0.00	0	G	XM_031246		77572051	77572051	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	missense	195	15.88	37	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77614119	77614119	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:77614119A>G	ENST00000461745.1	+	12	2597	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	ROBO2_ENST00000487694.3_Missense_Mutation_p.N582S|ROBO2_ENST00000332191.8_Missense_Mutation_p.N566S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	566	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGTGAGCAACAGCTGGCAG	0.433																																						dbGAP											0													62.0	60.0	61.0					3																	77614119		1974	4170	6144	-	-	-	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1697A>G	3.37:g.77614119A>G	ENSP00000417164:p.Asn566Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N566S	ENST00000461745.1	37	c.1697	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	A	2.722	-0.266450	0.05754	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57595	0.39;0.39;0.39	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000164	T	0.28267	0.0698	N	0.03268	-0.37	0.36604	D	0.874803	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.15484	0.011;0.013;0.011	T	0.30966	-0.9960	9	0.02654	T	1	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	582;566;566	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	582;582;586;566;566;287	ENSP00000417335:N582S;ENSP00000417164:N566S;ENSP00000327536:N566S	ENSP00000327536:N566S	N	+	2	0	ROBO2	77696809	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	7.306000	0.78905	2.304000	0.77564	0.528000	0.53228	AAC	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	157	0.00	0	A	XM_031246		77614119	77614119	+1	no_errors	ENST00000461745	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	1.000	G
ROBO1	6091	genome.wustl.edu	37	3	78649330	78649330	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:78649330C>A	ENST00000464233.1	-	30	4987	c.4874G>T	c.(4873-4875)aGa>aTa	p.R1625I	ROBO1_ENST00000436010.2_Missense_Mutation_p.R1586I|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1525I|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1580I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1625					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGCAATATTTCTTCGACCTAC	0.373																																						dbGAP											0													178.0	164.0	168.0					3																	78649330		1878	4095	5973	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4874G>T	3.37:g.78649330C>A	ENSP00000420321:p.Arg1625Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1625I	ENST00000464233.1	37	c.4874	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974606	0.92919	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.71579	-0.44;-0.48;-0.51;-0.58	5.61	5.61	0.85477	.	0.040925	0.85682	D	0.000000	T	0.74749	0.3757	N	0.19112	0.55	0.80722	D	1	P;P;B;D	0.64830	0.947;0.838;0.022;0.994	B;B;B;D	0.71870	0.355;0.276;0.008;0.975	T	0.72782	-0.4189	9	.	.	.	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	1625;1580;1525;1586	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	I	1586;1580;1625;1580;1525;1629	ENSP00000406043:R1586I;ENSP00000420321:R1625I;ENSP00000420637:R1580I;ENSP00000417992:R1525I	.	R	-	2	0	ROBO1	78732020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.457000	0.73505	2.652000	0.90054	0.555000	0.69702	AGA	ROBO1	-	NULL	ENSG00000169855		0.373	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	1070	0.09	1	C	NM_002941		78649330	78649330	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	728	14.55	124	SNP	1.000	A
ROBO3	64221	genome.wustl.edu	37	11	124742309	124742309	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:124742309G>A	ENST00000397801.1	+	8	1383	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	ROBO3_ENST00000538940.1_Silent_p.P375P	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	397	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACTTCAGCCGACGGGGCGCT	0.612																																						dbGAP											0													72.0	73.0	73.0					11																	124742309		2022	4183	6205	-	-	-	SO:0001819	synonymous_variant	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1191G>A	11.37:g.124742309G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P397	ENST00000397801.1	37	c.1191	CCDS44755.1	11																																																																																			ROBO3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154134		0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	147	0.00	0	G	XM_370663		124742309	124742309	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	silent	68	22.73	20	SNP	0.010	A
ROBO3	64221	genome.wustl.edu	37	11	124742317	124742317	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:124742317G>A	ENST00000397801.1	+	8	1391	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R378H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	400	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCGACGGGGCGCTTCTCAGTG	0.612																																						dbGAP											0													73.0	75.0	74.0					11																	124742317		2050	4198	6248	-	-	-	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1199G>A	11.37:g.124742317G>A	ENSP00000380903:p.Arg400His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R400H	ENST00000397801.1	37	c.1199	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643303	0.87859	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.79653	-1.29;-1.29	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42053	D	0.000777	D	0.89252	0.6662	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88843	0.3314	10	0.54805	T	0.06	.	19.4278	0.94751	0.0:0.0:1.0:0.0	.	400	Q96MS0	ROBO3_HUMAN	H	400;378	ENSP00000380903:R400H;ENSP00000441797:R378H	ENSP00000380903:R400H	R	+	2	0	ROBO3	124247527	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	5.583000	0.67484	2.695000	0.91970	0.655000	0.94253	CGC	ROBO3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154134		0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	148	0.00	0	G	XM_370663		124742317	124742317	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	1.000	A
ROBO4	54538	genome.wustl.edu	37	11	124764191	124764191	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:124764191G>T	ENST00000306534.3	-	8	1709	c.1224C>A	c.(1222-1224)atC>atA	p.I408I	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Silent_p.I263I	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	408	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I408I(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TATGGGTGGCGATTTCCAGCT	0.592																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											123.0	94.0	104.0					11																	124764191		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1224C>A	11.37:g.124764191G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I408	ENST00000306534.3	37	c.1224	CCDS8455.1	11																																																																																			ROBO4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154133		0.592	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	190	0.00	0	G	NM_019055		124764191	124764191	-1	no_errors	ENST00000306534	ensembl	human	known	69_37n	silent	94	25.40	32	SNP	0.000	T
ROCK1	6093	genome.wustl.edu	37	18	18533611	18533611	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:18533611C>T	ENST00000399799.2	-	32	4929	c.3989G>A	c.(3988-3990)cGa>cAa	p.R1330Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1330	Auto-inhibitory.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGAAAGCGTTCGAGGGGAAGC	0.378																																						dbGAP											0													171.0	180.0	177.0					18																	18533611		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3989G>A	18.37:g.18533611C>T	ENSP00000382697:p.Arg1330Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R1330Q	ENST00000399799.2	37	c.3989	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402476	0.62288	.	.	ENSG00000067900	ENST00000399799	T	0.65916	-0.18	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	N	0.08118	0	0.58432	D	0.999999	D	0.60160	0.987	B	0.36534	0.227	T	0.49303	-0.8954	10	0.38643	T	0.18	.	18.4287	0.90618	0.0:1.0:0.0:0.0	.	1330	Q13464	ROCK1_HUMAN	Q	1330	ENSP00000382697:R1330Q	ENSP00000382697:R1330Q	R	-	2	0	ROCK1	16787609	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.752000	0.85141	2.362000	0.80069	0.404000	0.27445	CGA	ROCK1	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000067900		0.378	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	629	0.00	0	C	NM_005406		18533611	18533611	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	missense	455	14.71	79	SNP	1.000	T
ROCK1	6093	genome.wustl.edu	37	18	18619483	18619483	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:18619483C>A	ENST00000399799.2	-	9	1941	c.1001G>T	c.(1000-1002)cGa>cTa	p.R334L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GAAGAGATGTCGTTTGATTTC	0.348																																						dbGAP											0													151.0	130.0	137.0					18																	18619483		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1001G>T	18.37:g.18619483C>A	ENSP00000382697:p.Arg334Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R334L	ENST00000399799.2	37	c.1001	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754736	0.69648	.	.	ENSG00000067900	ENST00000399799	T	0.65732	-0.17	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.28054	0.825	0.80722	D	1	B	0.21381	0.055	B	0.14023	0.01	T	0.43669	-0.9377	10	0.35671	T	0.21	.	19.0262	0.92932	0.0:1.0:0.0:0.0	.	334	Q13464	ROCK1_HUMAN	L	334	ENSP00000382697:R334L	ENSP00000382697:R334L	R	-	2	0	ROCK1	16873481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.000000	0.70678	2.664000	0.90586	0.650000	0.86243	CGA	ROCK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000067900		0.348	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	441	0.00	0	C	NM_005406		18619483	18619483	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	missense	229	11.54	30	SNP	1.000	A
ROCK1	6093	genome.wustl.edu	37	18	18622538	18622538	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:18622538C>T	ENST00000399799.2	-	7	1748	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACAAGCATTTCGTATAAAAAT	0.348																																						dbGAP											0													97.0	90.0	92.0					18																	18622538		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.808G>A	18.37:g.18622538C>T	ENSP00000382697:p.Glu270Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E270K	ENST00000399799.2	37	c.808	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571784	0.86542	.	.	ENSG00000067900	ENST00000399799	T	0.36878	1.23	4.54	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052295	0.85682	D	0.000000	T	0.62233	0.2411	M	0.87971	2.92	0.80722	D	1	D	0.55385	0.971	P	0.58660	0.843	T	0.71414	-0.4600	10	0.87932	D	0	.	17.8679	0.88801	0.0:1.0:0.0:0.0	.	270	Q13464	ROCK1_HUMAN	K	270	ENSP00000382697:E270K	ENSP00000382697:E270K	E	-	1	0	ROCK1	16876536	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.609000	0.82925	2.515000	0.84797	0.655000	0.94253	GAA	ROCK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000067900		0.348	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	129	0.77	1	C	NM_005406		18622538	18622538	-1	no_errors	ENST00000399799	ensembl	human	known	69_37n	missense	72	17.24	15	SNP	1.000	T
ROCK2	9475	genome.wustl.edu	37	2	11337705	11337705	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:11337705T>G	ENST00000315872.6	-	26	3674	c.3226A>C	c.(3226-3228)Aaa>Caa	p.K1076Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.K833Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1076					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGGGTCAATTTCTCACGTTCA	0.388																																						dbGAP											0													211.0	190.0	197.0					2																	11337705		1879	4114	5993	-	-	-	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3226A>C	2.37:g.11337705T>G	ENSP00000317985:p.Lys1076Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.K1076Q	ENST00000315872.6	37	c.3226	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110582	0.77210	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.70631	-0.5;0.57	5.72	4.57	0.56435	.	0.046272	0.85682	D	0.000000	T	0.81592	0.4855	M	0.78456	2.415	0.52501	D	0.999955	D	0.69078	0.997	D	0.66716	0.946	T	0.80400	-0.1398	10	0.36615	T	0.2	.	11.7095	0.51616	0.0:0.0692:0.0:0.9308	.	1076	O75116	ROCK2_HUMAN	Q	1076;833;434	ENSP00000317985:K1076Q;ENSP00000385509:K833Q	ENSP00000317985:K1076Q	K	-	1	0	ROCK2	11255156	1.000000	0.71417	0.594000	0.28785	0.991000	0.79684	8.036000	0.88901	0.993000	0.38866	0.460000	0.39030	AAA	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000134318		0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	397	0.00	0	T			11337705	11337705	-1	no_errors	ENST00000315872	ensembl	human	known	69_37n	missense	197	30.63	87	SNP	1.000	G
ROCK2	9475	genome.wustl.edu	37	2	11355187	11355187	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:11355187C>T	ENST00000315872.6	-	16	2163	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.R329Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	572	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGACTCTGTTCGCAGTAAAGC	0.378																																						dbGAP											0													85.0	75.0	78.0					2																	11355187		1854	4113	5967	-	-	-	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1715G>A	2.37:g.11355187C>T	ENSP00000317985:p.Arg572Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R572Q	ENST00000315872.6	37	c.1715	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870489	0.51588	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	T;T	0.63255	-0.03;1.02	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.31120	0.905	0.48087	D	0.99958	B	0.32968	0.392	B	0.25987	0.065	T	0.51896	-0.8647	10	0.40728	T	0.16	.	18.3079	0.90189	0.0:1.0:0.0:0.0	.	572	O75116	ROCK2_HUMAN	Q	572;329	ENSP00000317985:R572Q;ENSP00000385509:R329Q	ENSP00000317985:R572Q	R	-	2	0	ROCK2	11272638	1.000000	0.71417	0.993000	0.49108	0.889000	0.51656	5.716000	0.68437	2.318000	0.78349	0.561000	0.74099	CGA	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kinase	ENSG00000134318		0.378	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	162	0.00	0	C			11355187	11355187	-1	no_errors	ENST00000315872	ensembl	human	known	69_37n	missense	98	25.19	33	SNP	0.999	T
ROPN1B	152015	genome.wustl.edu	37	3	125701224	125701224	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:125701224G>A	ENST00000514116.1	+	6	823	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	ROPN1B_ENST00000511082.1_Missense_Mutation_p.E78K|ROPN1B_ENST00000505382.1_Missense_Mutation_p.E78K|ROPN1B_ENST00000251776.4_Missense_Mutation_p.E170K			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	170					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GTATATTGCCGAAGTGGATGG	0.438																																						dbGAP											0													163.0	137.0	146.0					3																	125701224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.508G>A	3.37:g.125701224G>A	ENSP00000426271:p.Glu170Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNA6|Q96BM7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.E170K	ENST00000514116.1	37	c.508	CCDS33841.1	3	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.536918	0.00942	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	2.41	1.53	0.23141	.	0.187449	0.36338	N	0.002659	T	0.07773	0.0195	N	0.11927	0.2	0.25197	N	0.990083	B	0.09022	0.002	B	0.06405	0.002	T	0.37709	-0.9694	10	0.06099	T	0.92	-9.7002	5.3574	0.16069	0.1649:0.0:0.8351:0.0	.	170	Q9BZX4	ROP1B_HUMAN	K	170;170;78;78	ENSP00000426271:E170K;ENSP00000251776:E170K;ENSP00000421662:E78K;ENSP00000424447:E78K	ENSP00000251776:E170K	E	+	1	0	ROPN1B	127183914	1.000000	0.71417	0.918000	0.36340	0.035000	0.12851	4.935000	0.63498	0.568000	0.29311	-0.479000	0.04858	GAA	ROPN1B	-	NULL	ENSG00000114547		0.438	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	179	0.00	0	G	NM_001012337		125701224	125701224	+1	no_errors	ENST00000251776	ensembl	human	known	69_37n	missense	196	14.78	34	SNP	0.956	A
ROR1	4919	genome.wustl.edu	37	1	64516389	64516389	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:64516389G>A	ENST00000371079.1	+	4	857		c.e4+1		ROR1_ENST00000482426.1_Splice_Site|ROR1_ENST00000371080.1_Splice_Site	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1						peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGGATACTCGTAAGTACTTT	0.413																																						dbGAP											0													315.0	281.0	293.0					1																	64516389		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.482+1G>A	1.37:g.64516389G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVX6|Q66K77|Q92776	Splice_Site	SNP	-	e4+1	ENST00000371079.1	37	c.482+1	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553742	0.86231	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2081	0.93742	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ROR1	64288977	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.624000	0.74243	2.532000	0.85374	0.467000	0.42956	.	ROR1	-	-	ENSG00000185483		0.413	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	703	0.28	2	G	NM_005012	Intron	64516389	64516389	+1	no_errors	ENST00000371079	ensembl	human	known	69_37n	splice_site	373	17.11	77	SNP	1.000	A
ROS1	6098	genome.wustl.edu	37	6	117662396	117662396	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:117662396T>G	ENST00000368508.3	-	30	5179	c.4981A>C	c.(4981-4983)Aaa>Caa	p.K1661Q	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1655Q	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1661	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAATAAGGTTTCTCTGGTGTG	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	dbGAP		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													124.0	119.0	121.0					6																	117662396		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4981A>C	6.37:g.117662396T>G	ENSP00000357494:p.Lys1661Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.K1661Q	ENST00000368508.3	37	c.4981	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300688	0.60195	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54675	0.56;0.56	5.1	2.53	0.30540	.	0.578345	0.17018	N	0.190225	T	0.26448	0.0646	N	0.24115	0.695	0.80722	D	1	P	0.51791	0.948	P	0.51918	0.684	T	0.05533	-1.0879	10	0.25751	T	0.34	.	4.7408	0.13012	0.0:0.0994:0.1913:0.7093	.	1661	P08922	ROS1_HUMAN	Q	1661;1655	ENSP00000357494:K1661Q;ENSP00000357493:K1655Q	ENSP00000357493:K1655Q	K	-	1	0	ROS1	117769089	0.447000	0.25673	0.999000	0.59377	0.934000	0.57294	0.855000	0.27805	0.794000	0.33899	0.528000	0.53228	AAA	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000047936		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	334	0.00	0	T			117662396	117662396	-1	no_errors	ENST00000368508	ensembl	human	known	69_37n	missense	222	26.97	82	SNP	0.955	G
RP1	6101	genome.wustl.edu	37	8	55539449	55539449	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:55539449G>A	ENST00000220676.1	+	4	3155	c.3007G>A	c.(3007-3009)Gat>Aat	p.D1003N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1003					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.D1003H(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGTGAAGAAGATCTCCATGA	0.383																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											1	Substitution - Missense(1)	lung(1)											196.0	210.0	205.0					8																	55539449		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3007G>A	8.37:g.55539449G>A	ENSP00000220676:p.Asp1003Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.D1003N	ENST00000220676.1	37	c.3007	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	5.623	0.299663	0.10622	.	.	ENSG00000104237	ENST00000220676	T	0.21734	1.99	5.38	1.18	0.20946	.	0.865873	0.10100	N	0.716123	T	0.19127	0.0459	L	0.51422	1.61	0.09310	N	1	B	0.18741	0.03	B	0.14023	0.01	T	0.25012	-1.0144	10	0.48119	T	0.1	.	7.5107	0.27573	0.0683:0.4452:0.3758:0.1108	.	1003	P56715	RP1_HUMAN	N	1003	ENSP00000220676:D1003N	ENSP00000220676:D1003N	D	+	1	0	RP1	55702002	0.006000	0.16342	0.002000	0.10522	0.124000	0.20399	0.369000	0.20416	0.211000	0.20683	-0.150000	0.13652	GAT	RP1	-	NULL	ENSG00000104237		0.383	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	122	0.00	0	G	NM_006269		55539449	55539449	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	0.080	A
RP1	6101	genome.wustl.edu	37	8	55540661	55540661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:55540661G>T	ENST00000220676.1	+	4	4367	c.4219G>T	c.(4219-4221)Gaa>Taa	p.E1407*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1407					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTGAAAAAGAAGCAGAACT	0.323																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													52.0	57.0	55.0					8																	55540661		2199	4300	6499	-	-	-	SO:0001587	stop_gained	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4219G>T	8.37:g.55540661G>T	ENSP00000220676:p.Glu1407*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1407*	ENST00000220676.1	37	c.4219	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.779397	0.97833	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.48	0.965	0.19661	.	0.902383	0.09362	N	0.812615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.128	3.4746	0.07579	0.0916:0.1426:0.4744:0.2913	.	.	.	.	X	1407	.	ENSP00000220676:E1407X	E	+	1	0	RP1	55703214	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.173000	0.16724	0.248000	0.21435	0.655000	0.94253	GAA	RP1	-	NULL	ENSG00000104237		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	51	0.00	0	G	NM_006269		55540661	55540661	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	nonsense	37	24.49	12	SNP	0.000	T
RP1	6101	genome.wustl.edu	37	8	55542260	55542260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:55542260G>T	ENST00000220676.1	+	4	5966	c.5818G>T	c.(5818-5820)Gaa>Taa	p.E1940*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1940					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATATCGCAAAGAATCTGATAT	0.343																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											0													63.0	64.0	64.0					8																	55542260		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5818G>T	8.37:g.55542260G>T	ENSP00000220676:p.Glu1940*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1940*	ENST00000220676.1	37	c.5818	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.712645	0.99594	.	.	ENSG00000104237	ENST00000220676	.	.	.	5.91	4.12	0.48240	.	0.777137	0.11150	N	0.594229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.2677	0.31824	0.1364:0.1285:0.7351:0.0	.	.	.	.	X	1940	.	ENSP00000220676:E1940X	E	+	1	0	RP1	55704813	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	0.796000	0.26986	0.835000	0.34877	0.655000	0.94253	GAA	RP1	-	NULL	ENSG00000104237		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	90	0.00	0	G	NM_006269		55542260	55542260	+1	no_errors	ENST00000220676	ensembl	human	known	69_37n	nonsense	37	32.73	18	SNP	1.000	T
RP9	6100	genome.wustl.edu	37	7	33140157	33140157	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:33140157G>T	ENST00000297157.3	-	2	186	c.169C>A	c.(169-171)Cct>Act	p.P57T		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	57	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATAAGCCCAGGAGGAGGTTTT	0.343																																						dbGAP											0													65.0	60.0	61.0					7																	33140157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.169C>A	7.37:g.33140157G>T	ENSP00000297157:p.Pro57Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P57T	ENST00000297157.3	37	c.169	CCDS5440.1	7	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893747	0.72639	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	T;D	0.85484	-1.13;-1.99	3.82	3.82	0.43975	.	0.000000	0.85682	U	0.000000	D	0.89698	0.6790	L	0.49778	1.585	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.90946	0.4801	10	0.72032	D	0.01	-21.8463	15.0432	0.71807	0.0:0.0:1.0:0.0	.	57	Q8TA86	RP9_HUMAN	T	57;23	ENSP00000297157:P57T;ENSP00000411577:P23T	ENSP00000297157:P57T	P	-	1	0	RP9	33106682	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.857000	0.86963	1.833000	0.53350	0.557000	0.71058	CCT	RP9	-	NULL	ENSG00000164610		0.343	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP9	HGNC	protein_coding	OTTHUMT00000328914.1	145	0.00	0	G	NM_203288		33140157	33140157	-1	no_errors	ENST00000297157	ensembl	human	known	69_37n	missense	91	28.35	36	SNP	1.000	T
RPA4	29935	genome.wustl.edu	37	X	96140074	96140074	+	Missense_Mutation	SNP	G	G	T	rs369646035		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:96140074G>T	ENST00000373040.3	+	1	1168	c.765G>T	c.(763-765)gaG>gaT	p.E255D	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	255					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TGGATCGGGAGCATTTTAAGT	0.483								Other identified genes with known or suspected DNA repair function																														dbGAP											0													83.0	73.0	76.0					X																	96140074		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.765G>T	X.37:g.96140074G>T	ENSP00000362131:p.Glu255Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32	p.E255D	ENST00000373040.3	37	c.765	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	G	3.670	-0.067806	0.07228	.	.	ENSG00000204086	ENST00000373040	T	0.43688	0.94	3.52	2.65	0.31530	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.26231	0.0640	N	0.05280	-0.08	0.09310	N	1	D	0.61697	0.99	P	0.55577	0.779	T	0.12268	-1.0554	9	0.02654	T	1	-35.5779	5.9034	0.18980	0.1449:0.0:0.8551:0.0	.	255	Q13156	RFA4_HUMAN	D	255	ENSP00000362131:E255D	ENSP00000362131:E255D	E	+	3	2	RPA4	96026730	0.972000	0.33761	0.014000	0.15608	0.115000	0.19883	0.103000	0.15292	0.860000	0.35481	0.600000	0.82982	GAG	RPA4	-	pfam_RPA_C,pirsf_RPA32	ENSG00000204086		0.483	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	115	0.00	0	G	NM_013347		96140074	96140074	+1	no_errors	ENST00000373040	ensembl	human	known	69_37n	missense	67	23.86	21	SNP	0.014	T
RPAP3	79657	genome.wustl.edu	37	12	48062755	48062755	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:48062755C>T	ENST00000005386.3	-	14	1772	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	RPAP3_ENST00000432584.3_Missense_Mutation_p.E394K|RPAP3_ENST00000380650.4_Missense_Mutation_p.E519K	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	553										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AAATCAGATTCGAGCTGGAAC	0.393																																						dbGAP											0													139.0	139.0	139.0					12																	48062755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1657G>A	12.37:g.48062755C>T	ENSP00000005386:p.Glu553Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRW9|Q6PHR5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E553K	ENST00000005386.3	37	c.1657	CCDS8753.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.064114	0.93898	.	.	ENSG00000005175	ENST00000005386;ENST00000432584;ENST00000380650	T;T;T	0.59224	0.28;0.28;0.28	5.85	5.85	0.93711	.	0.243755	0.48286	D	0.000198	T	0.76779	0.4035	M	0.74881	2.28	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74876	-0.3515	10	0.41790	T	0.15	.	18.7387	0.91765	0.0:1.0:0.0:0.0	.	519;553	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	K	553;394;519	ENSP00000005386:E553K;ENSP00000401823:E394K;ENSP00000370024:E519K	ENSP00000005386:E553K	E	-	1	0	RPAP3	46349022	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	5.451000	0.66632	2.754000	0.94517	0.643000	0.83706	GAA	RPAP3	-	NULL	ENSG00000005175		0.393	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1	430	0.00	0	C	NM_024604		48062755	48062755	-1	no_errors	ENST00000005386	ensembl	human	known	69_37n	missense	286	14.33	48	SNP	1.000	T
RPAP3	79657	genome.wustl.edu	37	12	48095371	48095371	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:48095371C>T	ENST00000005386.3	-	3	285	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RPAP3_ENST00000432584.3_5'UTR|RPAP3_ENST00000380650.4_Missense_Mutation_p.R57Q	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	57										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATTCCCATTTCGAATAGGAGG	0.308																																						dbGAP											0													80.0	76.0	77.0					12																	48095371		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.170G>A	12.37:g.48095371C>T	ENSP00000005386:p.Arg57Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRW9|Q6PHR5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R57Q	ENST00000005386.3	37	c.170	CCDS8753.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.330712	0.95733	.	.	ENSG00000005175	ENST00000005386;ENST00000380650	T;T	0.24151	1.87;1.98	5.49	5.49	0.81192	.	0.495911	0.19574	N	0.111022	T	0.59459	0.2195	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.63950	-0.6521	10	0.66056	D	0.02	.	18.7322	0.91739	0.0:1.0:0.0:0.0	.	57;57	Q9H6T3-2;Q9H6T3	.;RPAP3_HUMAN	Q	57	ENSP00000005386:R57Q;ENSP00000370024:R57Q	ENSP00000005386:R57Q	R	-	2	0	RPAP3	46381638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.139000	0.77314	2.739000	0.93911	0.655000	0.94253	CGA	RPAP3	-	NULL	ENSG00000005175		0.308	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1	243	0.00	0	C	NM_024604		48095371	48095371	-1	no_errors	ENST00000005386	ensembl	human	known	69_37n	missense	130	31.05	59	SNP	1.000	T
RPE65	6121	genome.wustl.edu	37	1	68904758	68904758	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:68904758G>A	ENST00000262340.5	-	9	918	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	289					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCAATATGAAGCCAAACCTTG	0.308																																						dbGAP											0													137.0	140.0	139.0					1																	68904758		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.865C>T	1.37:g.68904758G>A	ENSP00000262340:p.Leu289Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.L289F	ENST00000262340.5	37	c.865	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	G	0.519	-0.863103	0.02610	.	.	ENSG00000116745	ENST00000262340	D	0.94330	-3.4	5.15	4.22	0.49857	.	0.122933	0.64402	D	0.000014	T	0.63367	0.2505	N	0.01515	-0.825	0.41178	D	0.986213	B	0.06786	0.001	B	0.06405	0.002	T	0.61821	-0.6984	10	0.02654	T	1	-5.7963	12.4777	0.55823	0.0:0.0:0.5679:0.4321	.	289	Q16518	RPE65_HUMAN	F	289	ENSP00000262340:L289F	ENSP00000262340:L289F	L	-	1	0	RPE65	68677346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.210000	0.42816	1.128000	0.42052	0.655000	0.94253	CTT	RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.308	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	1123	0.00	0	G	NM_000329		68904758	68904758	-1	no_errors	ENST00000262340	ensembl	human	known	69_37n	missense	501	30.76	223	SNP	1.000	A
RPGR	6103	genome.wustl.edu	37	X	38158323	38158323	+	Silent	SNP	G	G	A	rs17852968		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:38158323G>A	ENST00000339363.3	-	10	1298	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	RPGR_ENST00000318842.7_Silent_p.F377F|RPGR_ENST00000338898.3_Silent_p.F377F|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Silent_p.F377F|RPGR_ENST00000378505.2_Silent_p.F377F|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	377					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTATTTCATCGAATTCAATTT	0.423																																						dbGAP											0													107.0	80.0	89.0					X																	38158323		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1131C>T	X.37:g.38158323G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	p.S66L	ENST00000339363.3	37	c.197		X	.	.	.	.	.	.	.	.	.	.	G	4.081	0.013021	0.07912	.	.	ENSG00000156313	ENST00000464437	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.07028	-1.0794	4	.	.	.	.	3.2015	0.06651	0.5096:0.1137:0.2405:0.1362	rs17852968	.	.	.	L	66	.	.	S	-	2	0	RPGR	38043267	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.860000	0.00726	-3.593000	0.00135	-0.987000	0.02553	TCG	RPGR	-	NULL	ENSG00000156313		0.423	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		163	0.00	0	G	NM_000328		38158323	38158323	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000464437	ensembl	human	putative	69_37n	missense	150	11.70	20	SNP	0.000	A
RPGRIP1L	23322	genome.wustl.edu	37	16	53653105	53653105	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:53653105G>A	ENST00000379925.3	-	24	3498	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R1070W|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1116W|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1104W	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1150					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R1150W(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCTCAATCCGAATTTTTTCT	0.338																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											89.0	90.0	90.0					16																	53653105		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3448C>T	16.37:g.53653105G>A	ENSP00000369257:p.Arg1150Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1150W	ENST00000379925.3	37	c.3448	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766863	0.49574	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.79454	-1.04;-1.27	6.08	5.11	0.69529	.	0.130287	0.52532	D	0.000071	D	0.84946	0.5585	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.71414	0.973;0.973;0.973;0.821	D	0.86218	0.1629	10	0.87932	D	0	-4.1156	11.7456	0.51817	0.0647:0.0:0.8109:0.1244	.	1104;1104;1150;1070	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	W	1150;1070	ENSP00000369257:R1150W;ENSP00000262135:R1070W	ENSP00000262135:R1070W	R	-	1	2	RPGRIP1L	52210606	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	2.985000	0.49362	1.561000	0.49584	0.655000	0.94253	CGG	RPGRIP1L	-	NULL	ENSG00000103494		0.338	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	141	0.70	1	G	NM_015272		53653105	53653105	-1	no_errors	ENST00000379925	ensembl	human	known	69_37n	missense	50	35.90	28	SNP	0.998	A
RPL24	6152	genome.wustl.edu	37	3	101401630	101401630	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:101401630C>T	ENST00000394077.3	-	4	419	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	RPL24_ENST00000495401.1_Missense_Mutation_p.R105Q|RPL24_ENST00000469605.1_Missense_Mutation_p.R105Q	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	105					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						AGCTTGTTCTCGTTGAGCCTT	0.418																																						dbGAP											0													113.0	106.0	108.0					3																	101401630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"""L ribosomal proteins"""	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.314G>A	3.37:g.101401630C>T	ENSP00000377640:p.Arg105Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4Y3|P38663|Q6IBS3	Missense_Mutation	SNP	pfam_Ribosomal_L24e_rel,smart_TRASH	p.R105Q	ENST00000394077.3	37	c.314	CCDS33809.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992537	0.93167	.	.	ENSG00000114391	ENST00000394077;ENST00000495401;ENST00000469605	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	U	0.000001	T	0.63271	0.2497	M	0.74467	2.265	0.80722	D	1	D;P	0.71674	0.998;0.917	B;B	0.43838	0.433;0.047	T	0.71636	-0.4533	9	0.66056	D	0.02	.	18.8035	0.92028	0.0:1.0:0.0:0.0	.	105;105	C9JXB8;P83731	.;RL24_HUMAN	Q	105	.	ENSP00000377640:R105Q	R	-	2	0	RPL24	102884320	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.700000	0.84556	2.449000	0.82847	0.467000	0.42956	CGA	RPL24	-	NULL	ENSG00000114391		0.418	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL24	HGNC	protein_coding	OTTHUMT00000353487.1	171	0.00	0	C	NM_000986		101401630	101401630	-1	no_errors	ENST00000394077	ensembl	human	known	69_37n	missense	91	24.79	30	SNP	1.000	T
RPL3L	6123	genome.wustl.edu	37	16	1995840	1995840	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:1995840C>A	ENST00000268661.7	-	8	1137	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	MSRB1_ENST00000361871.3_5'Flank|MSRB1_ENST00000399753.2_5'Flank|MSRB1_ENST00000564908.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	348					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627																																						dbGAP											0													139.0	119.0	126.0					16																	1995840		2199	4300	6499	-	-	-	SO:0001583	missense	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.1043G>T	16.37:g.1995840C>A	ENSP00000268661:p.Arg348Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	p.R348I	ENST00000268661.7	37	c.1043	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751754	0.49362	.	.	ENSG00000140986	ENST00000268661	T	0.29917	1.55	4.25	3.3	0.37823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79453	-0.1797	10	0.87932	D	0	-35.042	11.1468	0.48434	0.0:0.9078:0.0:0.0922	.	348	Q92901	RL3L_HUMAN	I	348	ENSP00000268661:R348I	ENSP00000268661:R348I	R	-	2	0	RPL3L	1935841	0.977000	0.34250	0.996000	0.52242	0.003000	0.03518	7.383000	0.79741	1.125000	0.41998	-0.251000	0.11542	AGA	RPL3L	-	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel	ENSG00000140986		0.627	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3L	HGNC	protein_coding	OTTHUMT00000250582.2	33	0.00	0	C	NM_005061		1995840	1995840	-1	no_errors	ENST00000268661	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.999	A
RPL6P27	645387	genome.wustl.edu	37	18	6462681	6462681	+	RNA	SNP	C	C	T	rs577381872		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:6462681C>T	ENST00000583065.1	-	0	217									ribosomal protein L6 pseudogene 27																		AGGCATTTTGCGAAGTTTAAC	0.473																																						dbGAP											0																																										-	-	-			0					18p11.31	2009-03-11				ENSG00000235552			36133	pseudogene	pseudogene						19123937	Standard	NG_009652		Approved						18.37:g.6462681C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000583065.1	37	NULL		18																																																																																			RPL6P27	-	-	ENSG00000235552		0.473	RPL6P27-002	KNOWN	basic	processed_transcript	RPL6P27	HGNC	pseudogene	OTTHUMT00000444194.1	134	0.00	0	C	NG_009652		6462681	6462681	-1	no_errors	ENST00000583065	ensembl	human	known	69_37n	rna	84	14.29	14	SNP	1.000	T
RPL7A	6130	genome.wustl.edu	37	9	136217431	136217431	+	Intron	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:136217431T>C	ENST00000323345.6	+	6	525				SNORD24_ENST00000383884.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000471524.1_5'Flank|RPL7A_ENST00000315731.4_Intron|MED22_ENST00000491289.1_5'Flank|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000343730.5_5'Flank|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000371999.1_5'Flank|MED22_ENST00000344469.5_5'Flank|SNORD36A_ENST00000362874.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		AATACAGTCTTCAGCTAATGC	0.443																																						dbGAP											0													107.0	94.0	98.0					9																	136217431		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.496-21T>C	9.37:g.136217431T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P11518|Q5T8U4	RNA	SNP	-	NULL	ENST00000323345.6	37	NULL	CCDS6965.1	9																																																																																			RPL7A	-	-	ENSG00000148303		0.443	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	89	0.00	0	T	NM_000972		136217431	136217431	+1	no_errors	ENST00000463740	ensembl	human	known	69_37n	rna	66	12.00	9	SNP	0.000	C
RPL9	6133	genome.wustl.edu	37	4	39456216	39456216	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:39456216A>C	ENST00000449470.2	-	6	974	c.526T>G	c.(526-528)Ttg>Gtg	p.L176V	RPL9_ENST00000295955.9_Missense_Mutation_p.L176V	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	176					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						ATACCATCCAAAAATTTCCTG	0.368																																						dbGAP											0													53.0	52.0	53.0					4																	39456216		2202	4292	6494	-	-	-	SO:0001583	missense	0			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.526T>G	4.37:g.39456216A>C	ENSP00000400467:p.Leu176Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6	p.L176V	ENST00000449470.2	37	c.526	CCDS3452.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.92|14.92	2.680032|2.680032	0.47886|0.47886	.|.	.|.	ENSG00000163682|ENSG00000163682	ENST00000508595;ENST00000506581|ENST00000295955;ENST00000449470;ENST00000503040	.|.	.|.	.|.	5.38|5.38	1.59|1.59	0.23543|0.23543	.|Ribosomal protein L6, alpha-beta domain (3);Ribosomal protein L6, conserved site-2 (1);	.|0.000000	.|0.64402	.|U	.|0.000006	T|T	0.72645|0.72645	0.3486|0.3486	M|M	0.91300|0.91300	3.195|3.195	0.54753|0.54753	D|D	0.999989|0.999989	.|B	.|0.14805	.|0.011	.|B	.|0.34418	.|0.182	T|T	0.68089|0.68089	-0.5501|-0.5501	6|9	0.72032|0.87932	D|D	0.01|0	.|.	6.4095|6.4095	0.21682|0.21682	0.7405:0.1374:0.1221:0.0|0.7405:0.1374:0.1221:0.0	.|.	.|176	.|P32969	.|RL9_HUMAN	C|V	172;74|176;176;171	.|.	ENSP00000424796:F74C|ENSP00000346022:L176V	F|L	-|-	2|1	0|2	RPL9|RPL9	39132611|39132611	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.700000|4.700000	0.61803|0.61803	0.056000|0.056000	0.16144|0.16144	0.459000|0.459000	0.35465|0.35465	TTT|TTG	RPL9	-	pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6	ENSG00000163682		0.368	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL9	HGNC	protein_coding	OTTHUMT00000361018.1	263	0.38	1	A			39456216	39456216	-1	no_errors	ENST00000295955	ensembl	human	known	69_37n	missense	174	17.14	36	SNP	1.000	C
RPLP0P2	113157	genome.wustl.edu	37	11	61405049	61405049	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:61405049G>T	ENST00000496593.1	+	0	1653					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		AGCTAAGGATGAAGCCAAGGA	0.552																																						dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405049G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	35	0.00	0	G	NR_002775		61405049	61405049	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	24	22.58	7	SNP	1.000	T
RPS12	6206	genome.wustl.edu	37	6	133138123	133138123	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:133138123G>A	ENST00000230050.3	+	5	469	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA|SNORD100_ENST00000408573.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GAAACTAGGAGAATGGGTAGG	0.363																																						dbGAP											0													69.0	68.0	68.0					6																	133138123		2203	4300	6503	-	-	-	SO:0001583	missense	0			X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.259G>A	6.37:g.133138123G>A	ENSP00000230050:p.Glu87Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76M58	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e	p.E87K	ENST00000230050.3	37	c.259	CCDS5164.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.682322	0.96774	.	.	ENSG00000112306	ENST00000230050	T	0.59083	0.29	5.4	5.4	0.78164	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.045130	0.85682	N	0.000000	T	0.75932	0.3917	M	0.85099	2.735	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.80079	-0.1532	10	0.87932	D	0	-22.5331	19.1845	0.93637	0.0:0.0:1.0:0.0	.	87	P25398	RS12_HUMAN	K	87	ENSP00000230050:E87K	ENSP00000230050:E87K	E	+	1	0	RPS12	133179816	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.823000	0.99369	2.530000	0.85305	0.655000	0.94253	GAA	RPS12	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e	ENSG00000112306		0.363	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS12	HGNC	protein_coding	OTTHUMT00000042270.2	185	0.54	1	G	NM_001016		133138123	133138123	+1	no_errors	ENST00000230050	ensembl	human	known	69_37n	missense	153	16.30	30	SNP	1.000	A
RPS6KA1	6195	genome.wustl.edu	37	1	26882031	26882031	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:26882031G>A	ENST00000374168.2	+	11	985	c.831G>A	c.(829-831)gcG>gcA	p.A277A	MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000374166.4_Silent_p.A266A|RPS6KA1_ENST00000526792.1_Silent_p.A185A|RPS6KA1_ENST00000530003.1_Silent_p.A261A|RPS6KA1_ENST00000531382.1_Silent_p.A286A|RPS6KA1_ENST00000374162.2_Silent_p.A185A|RPS6KA1_ENST00000488985.1_3'UTR	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	277	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTTTCAGGGCGAAGCTAGGCA	0.637																																						dbGAP											0													24.0	23.0	24.0					1																	26882031		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.831G>A	1.37:g.26882031G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A286	ENST00000374168.2	37	c.858	CCDS284.1	1																																																																																			RPS6KA1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000117676		0.637	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	53	0.00	0	G	NM_002953		26882031	26882031	+1	no_errors	ENST00000531382	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.653	A
RPS6KA3	6197	genome.wustl.edu	37	X	20174289	20174289	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:20174289C>T	ENST00000379565.3	-	21	2245	c.2038G>A	c.(2038-2040)Gtc>Atc	p.V680I	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V650I|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V651I|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V652I	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	680					axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TCCCAGTGGACGATCCAAGGA	0.478																																						dbGAP											0													325.0	253.0	277.0					X																	20174289		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.2038G>A	X.37:g.20174289C>T	ENSP00000368884:p.Val680Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V680I	ENST00000379565.3	37	c.2038	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826317	0.32329	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.78	5.78	0.91487	Protein kinase-like domain (1);	0.176804	0.49916	D	0.000136	T	0.33585	0.0868	N	0.22421	0.69	0.42644	D	0.993428	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.05533	-1.0879	10	0.33141	T	0.24	.	18.9267	0.92548	0.0:1.0:0.0:0.0	.	651;650;652;680	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	I	680;652;650;651	ENSP00000368884:V680I;ENSP00000440220:V652I;ENSP00000368865:V650I;ENSP00000444837:V651I	ENSP00000368865:V650I	V	-	1	0	RPS6KA3	20084210	0.998000	0.40836	0.948000	0.38648	0.985000	0.73830	3.668000	0.54554	2.417000	0.82017	0.600000	0.82982	GTC	RPS6KA3	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II	ENSG00000177189		0.478	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	539	0.00	0	C	NM_004586		20174289	20174289	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	missense	411	19.69	101	SNP	0.997	T
RPS6KA3	6197	genome.wustl.edu	37	X	20183109	20183109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:20183109G>A	ENST00000379565.3	-	18	1879	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	RPS6KA3_ENST00000479809.1_Intron|RPS6KA3_ENST00000379548.4_Nonsense_Mutation_p.R528*|RPS6KA3_ENST00000540702.1_Nonsense_Mutation_p.R529*|RPS6KA3_ENST00000544447.1_Nonsense_Mutation_p.R530*	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	558	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TCACAAATTCGAATAGATTCC	0.363																																						dbGAP											0			GRCh37	CM961265	RPS6KA3	M							105.0	94.0	98.0					X																	20183109		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1672C>T	X.37:g.20183109G>A	ENSP00000368884:p.Arg558*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R558*	ENST00000379565.3	37	c.1672	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.062968	0.98036	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.9452	0.58369	0.0:0.0:0.7167:0.2833	.	.	.	.	X	558;530;528;529	.	ENSP00000368865:R528X	R	-	1	2	RPS6KA3	20093030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.471000	0.35365	2.328000	0.79073	0.600000	0.82982	CGA	RPS6KA3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000177189		0.363	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	185	0.00	0	G	NM_004586		20183109	20183109	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	nonsense	150	30.23	65	SNP	1.000	A
RPS6KA3	6197	genome.wustl.edu	37	X	20213249	20213249	+	Missense_Mutation	SNP	G	G	A	rs122454127		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:20213249G>A	ENST00000379565.3	-	5	547	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R85W|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R86W|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R86W	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	114	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in CLS). {ECO:0000269|PubMed:10094187}.		axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R114W(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATTTTTGTCCGAACTCGGTCT	0.348																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM992428	RPS6KA3	M	rs122454127						175.0	134.0	148.0					X																	20213249		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.340C>T	X.37:g.20213249G>A	ENSP00000368884:p.Arg114Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R114W	ENST00000379565.3	37	c.340	CCDS14197.1	X	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156830	0.78114	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145;ENST00000438357	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.67953	2.075	0.80722	A	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.969;0.99;0.992;0.994	D	0.83586	0.0120	9	0.87932	D	0	.	14.3571	0.66745	0.0:0.0:0.8523:0.1477	.	86;85;86;114	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	W	114;86;85;86;85;86	ENSP00000368884:R114W;ENSP00000440220:R86W;ENSP00000368865:R85W;ENSP00000444837:R86W;ENSP00000407655:R85W;ENSP00000388512:R86W	ENSP00000368865:R85W	R	-	1	2	RPS6KA3	20123170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.212000	0.42835	2.562000	0.86427	0.600000	0.82982	CGG	RPS6KA3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000177189		0.348	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPS6KA3	HGNC	protein_coding	OTTHUMT00000056011.3	364	0.82	3	G	NM_004586		20213249	20213249	-1	no_errors	ENST00000379565	ensembl	human	known	69_37n	missense	275	16.87	56	SNP	1.000	A
RPS6KA4	8986	genome.wustl.edu	37	11	64132805	64132805	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:64132805G>T	ENST00000334205.4	+	9	1004	c.939G>T	c.(937-939)aaG>aaT	p.K313N	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.K313N|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.K313N	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	313	AGC-kinase C-terminal.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CTGCCAGGAAGATTCCAGCCC	0.602																																						dbGAP											0													61.0	63.0	62.0					11																	64132805		2201	4297	6498	-	-	-	SO:0001583	missense	0			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.939G>T	11.37:g.64132805G>T	ENSP00000333896:p.Lys313Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.K313N	ENST00000334205.4	37	c.939	CCDS8073.1	11	.	.	.	.	.	.	.	.	.	.	g	12.33	1.904970	0.33628	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.05	3.08	0.35506	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.051230	0.85682	D	0.000000	T	0.41282	0.1152	L	0.51914	1.62	0.42644	D	0.99342	B;B;B;B	0.34181	0.047;0.44;0.045;0.075	B;B;B;B	0.24701	0.013;0.055;0.011;0.024	T	0.44421	-0.9329	10	0.66056	D	0.02	.	9.3228	0.37975	0.1934:0.0:0.8066:0.0	.	313;313;313;313	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	N	313;313;313;297	ENSP00000435580:K313N;ENSP00000333896:K313N;ENSP00000294261:K313N;ENSP00000432945:K297N	ENSP00000294261:K313N	K	+	3	2	RPS6KA4	63889381	1.000000	0.71417	0.997000	0.53966	0.496000	0.33645	1.822000	0.39052	1.070000	0.40811	0.471000	0.43371	AAG	RPS6KA4	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II	ENSG00000162302		0.602	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2	41	0.00	0	G	NM_003942		64132805	64132805	+1	no_errors	ENST00000334205	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	T
RPS6KA6	27330	genome.wustl.edu	37	X	83402052	83402052	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:83402052G>A	ENST00000262752.2	-	5	362	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R119W	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	119	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCTTTGTCCGAACTCTGTCT	0.289																																						dbGAP											0													116.0	104.0	108.0					X																	83402052		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.355C>T	X.37:g.83402052G>A	ENSP00000262752:p.Arg119Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.R119W	ENST00000262752.2	37	c.355	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910229	0.72983	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.66815	-0.23;-0.23	4.69	3.83	0.44106	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.80661	-0.1283	10	0.87932	D	0	.	11.7339	0.51755	0.0905:0.0:0.9095:0.0	.	119;119	B7ZL90;Q9UK32	.;KS6A6_HUMAN	W	119	ENSP00000262752:R119W;ENSP00000440830:R119W	ENSP00000262752:R119W	R	-	1	2	RPS6KA6	83288708	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	8.824000	0.92023	0.760000	0.33108	0.415000	0.27848	CGG	RPS6KA6	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000072133		0.289	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	1034	0.00	0	G	NM_014496		83402052	83402052	-1	no_errors	ENST00000262752	ensembl	human	known	69_37n	missense	460	24.76	152	SNP	1.000	A
RPS6KB1	6198	genome.wustl.edu	37	17	57990136	57990136	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:57990136C>T	ENST00000225577.4	+	3	304	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R95W|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R95W|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R42W	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAGCTACTTCGGGTACTTGG	0.413																																						dbGAP											0													161.0	162.0	161.0					17																	57990136		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.283C>T	17.37:g.57990136C>T	ENSP00000225577:p.Arg95Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.R95W	ENST00000225577.4	37	c.283	CCDS11621.1	17	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652125	0.88056	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114309	0.56097	D	0.000025	T	0.57125	0.2032	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.70227	0.954;0.968;0.968	T	0.60485	-0.7254	10	0.87932	D	0	.	19.7947	0.96474	0.0:1.0:0.0:0.0	.	95;95;95	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	W	95;95;95;42	ENSP00000441993:R95W;ENSP00000384335:R95W;ENSP00000225577:R95W;ENSP00000376744:R42W	ENSP00000225577:R95W	R	+	1	2	RPS6KB1	55344918	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.739000	0.68622	2.776000	0.95493	0.650000	0.86243	CGG	RPS6KB1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000108443		0.413	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB1	HGNC	protein_coding	OTTHUMT00000319324.1	267	0.00	0	C	NM_003161		57990136	57990136	+1	no_errors	ENST00000225577	ensembl	human	known	69_37n	missense	133	27.72	51	SNP	1.000	T
RPTN	126638	genome.wustl.edu	37	1	152128201	152128201	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152128201G>A	ENST00000316073.3	-	3	1438	c.1374C>T	c.(1372-1374)ggC>ggT	p.G458G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	458	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GGGAACTCTGGCCTTGTCTGT	0.517																																						dbGAP											0													781.0	692.0	719.0					1																	152128201		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1374C>T	1.37:g.152128201G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBZ3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G458	ENST00000316073.3	37	c.1374	CCDS41397.1	1																																																																																			RPTN	-	NULL	ENSG00000215853		0.517	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	HGNC	protein_coding	OTTHUMT00000333867.1	1434	0.07	1	G	XM_371312		152128201	152128201	-1	no_errors	ENST00000316073	ensembl	human	known	69_37n	silent	1172	14.70	203	SNP	0.000	A
RPTN	126638	genome.wustl.edu	37	1	152129395	152129395	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152129395G>T	ENST00000316073.3	-	3	244	c.180C>A	c.(178-180)ctC>ctA	p.L60L		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	60	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like. {ECO:0000250}.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTGATCTAAGAGGTTCAAGA	0.413																																						dbGAP											0													147.0	124.0	131.0					1																	152129395		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.180C>A	1.37:g.152129395G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBZ3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L60	ENST00000316073.3	37	c.180	CCDS41397.1	1																																																																																			RPTN	-	pfscan_EF_HAND_2	ENSG00000215853		0.413	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	HGNC	protein_coding	OTTHUMT00000333867.1	280	0.00	0	G	XM_371312		152129395	152129395	-1	no_errors	ENST00000316073	ensembl	human	known	69_37n	silent	286	13.60	45	SNP	0.944	T
RPUSD3	285367	genome.wustl.edu	37	3	9880756	9880756	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:9880756C>T	ENST00000383820.5	-	8	825	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	RPUSD3_ENST00000485705.1_5'Flank|RPUSD3_ENST00000424438.1_Intron|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R260Q	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	275					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CAGCAGAAATCGCTGGCCCAG	0.587																																						dbGAP											0													123.0	100.0	108.0					3																	9880756		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032135	CCDS2586.2, CCDS46744.1	3p25.3	2013-02-11			ENSG00000156990	ENSG00000156990		"""RNA pseudouridylate synthase domain containing"""	28437	protein-coding gene	gene with protein product						12477932	Standard	NM_173659		Approved	MGC29784	uc011atk.2	Q6P087	OTTHUMG00000128441	ENST00000383820.5:c.824G>A	3.37:g.9880756C>T	ENSP00000373331:p.Arg275Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DS39|Q6P6A9|Q8N1B2|Q8NAV3	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.R275Q	ENST00000383820.5	37	c.824	CCDS2586.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.10|15.10	2.731647|2.731647	0.48939|0.48939	.|.	.|.	ENSG00000156990|ENSG00000156990	ENST00000423108|ENST00000433535;ENST00000383820;ENST00000427174	.|T;T	.|0.22743	.|1.94;1.94	5.24|5.24	4.36|4.36	0.52297|0.52297	.|Pseudouridine synthase, catalytic domain (1);	.|0.242961	.|0.36167	.|N	.|0.002758	T|T	0.17492|0.17492	0.0420|0.0420	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|B;B	.|0.31625	.|0.332;0.053	.|B;B	.|0.22386	.|0.039;0.007	T|T	0.03403|0.03403	-1.1040|-1.1040	5|10	.|0.20519	.|T	.|0.43	.|.	6.5941|6.5941	0.22664|0.22664	0.0:0.6396:0.1968:0.1636|0.0:0.6396:0.1968:0.1636	.|.	.|260;275	.|Q6P087-2;Q6P087	.|.;RUSD3_HUMAN	N|Q	104|260;275;275	.|ENSP00000398921:R260Q;ENSP00000373331:R275Q	.|ENSP00000373331:R275Q	D|R	-|-	1|2	0|0	RPUSD3|RPUSD3	9855756|9855756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.802000|0.802000	0.45316|0.45316	1.785000|1.785000	0.38684|0.38684	2.444000|2.444000	0.82710|0.82710	0.561000|0.561000	0.74099|0.74099	GAT|CGA	RPUSD3	-	superfamily_PsdUridine_synth_cat_dom	ENSG00000156990		0.587	RPUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD3	HGNC	protein_coding	OTTHUMT00000250238.1	298	0.00	0	C	NM_173659		9880756	9880756	-1	no_errors	ENST00000383820	ensembl	human	known	69_37n	missense	128	52.73	145	SNP	1.000	T
RRM1	6240	genome.wustl.edu	37	11	4153626	4153626	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4153626G>A	ENST00000300738.5	+	16	2084	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	RRM1_ENST00000537197.1_Missense_Mutation_p.R289H|RRM1_ENST00000534285.1_Missense_Mutation_p.R405H|RRM1_ENST00000423050.2_Missense_Mutation_p.R530H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	627					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATCTATACTCGCAGAGTCTTG	0.453																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	dbGAP											0													140.0	132.0	134.0					11																	4153626		2201	4298	6499	-	-	-	SO:0001583	missense	0			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1880G>A	11.37:g.4153626G>A	ENSP00000300738:p.Arg627His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UNN2	Missense_Mutation	SNP	pfam_Ribncl_red_lg_C,pfam_Ribncl_Rdtase_lsu_N,pfam_ATP-cone,superfamily_Ribnucl_Rdtase_R1-su_N,pfscan_ATP-cone,prints_Ribncl_red_lg_C,tigrfam_NrdE_NrdA	p.R627H	ENST00000300738.5	37	c.1880	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.055544	0.93793	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.07	5.07	0.68467	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.81346	-0.0974	10	0.87932	D	0	-6.0041	17.39	0.87427	0.0:0.0:1.0:0.0	.	627	P23921	RIR1_HUMAN	H	627;530;540;405;405;289	ENSP00000300738:R627H;ENSP00000390539:R530H;ENSP00000431464:R405H;ENSP00000442148:R289H	ENSP00000300738:R627H	R	+	2	0	RRM1	4110202	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.379000	0.97198	2.515000	0.84797	0.650000	0.86243	CGC	RRM1	-	pfam_Ribncl_red_lg_C,tigrfam_NrdE_NrdA	ENSG00000167325		0.453	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	229	0.00	0	G	NM_001033		4153626	4153626	+1	no_errors	ENST00000300738	ensembl	human	known	69_37n	missense	90	23.73	28	SNP	1.000	A
RRM2B	50484	genome.wustl.edu	37	8	103220448	103220448	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:103220448G>T	ENST00000251810.3	-	9	1212	c.969C>A	c.(967-969)ttC>ttA	p.F323L	RRM2B_ENST00000519317.1_Missense_Mutation_p.F111L|RRM2B_ENST00000395912.2_Missense_Mutation_p.F271L|RRM2B_ENST00000519962.1_Missense_Mutation_p.F38L	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	323					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.F323L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	GTTTCTCAAAGAAATTTGTTT	0.318								Modulation of nucleotide pools																														dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	78.0	75.0					8																	103220448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.969C>A	8.37:g.103220448G>T	ENSP00000251810:p.Phe323Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	pfam_Ribonucl_Rdtase_small,superfamily_Ferritin/RR-like	p.F323L	ENST00000251810.3	37	c.969	CCDS34932.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.444367|4.444367	0.83993|0.83993	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000519962;ENST00000519317;ENST00000395912|ENST00000522368	D;D;D;D|.	0.98249|.	-4.82;-4.82;-4.82;-4.82|.	5.9|5.9	3.8|3.8	0.43715|0.43715	Ferritin/ribonucleotide reductase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87354|0.87354	0.6156|0.6156	H|H	0.97564|0.97564	4.03|4.03	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.981;0.997;0.998|.	P;D;D|.	0.71656|.	0.86;0.974;0.968|.	D|D	0.91420|0.91420	0.5158|0.5158	10|5	0.87932|.	D|.	0|.	.|.	13.4642|13.4642	0.61243|0.61243	0.1463:0.0:0.8537:0.0|0.1463:0.0:0.8537:0.0	.|.	111;271;323|.	Q7LG56-3;Q7LG56-2;Q7LG56|.	.;.;RIR2B_HUMAN|.	L|I	323;269;38;111;271|380	ENSP00000251810:F323L;ENSP00000429140:F38L;ENSP00000430641:F111L;ENSP00000379248:F271L|.	ENSP00000251810:F323L|.	F|L	-|-	3|1	2|0	RRM2B|RRM2B	103289624|103289624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	5.718000|5.718000	0.68455|0.68455	1.499000|1.499000	0.48617|0.48617	0.650000|0.650000	0.86243|0.86243	TTC|CTT	RRM2B	-	superfamily_Ferritin/RR-like	ENSG00000048392		0.318	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2B	HGNC	protein_coding	OTTHUMT00000380191.3	138	0.00	0	G			103220448	103220448	-1	no_errors	ENST00000251810	ensembl	human	known	69_37n	missense	144	14.29	24	SNP	1.000	T
RRP1	8568	genome.wustl.edu	37	21	45212608	45212608	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:45212608C>T	ENST00000497547.1	+	3	389	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_003683.5	NP_003674.1	P05386	RLA1_HUMAN	ribosomal RNA processing 1	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ACCACGGAGGCGCGTGAGTAT	0.502																																						dbGAP											0													177.0	171.0	173.0					21																	45212608		2101	4252	6353	-	-	-	SO:0001583	missense	0			U79775	CCDS42951.1	21q22.3	2013-07-02	2013-07-02		ENSG00000160214	ENSG00000160214			18785	protein-coding gene	gene with protein product	"""DNA segment on chromosome 21 (unique) 2056 expressed sequence"", ""Nnp1 homolog, nucleolar protein (Drosophila)"""	610653	"""ribosomal RNA processing 1 homolog (S. cerevisiae)"""			10830953, 10341208	Standard	NM_003683		Approved	NNP-1, Nop52, NOP52, RRP1A, D21S2056E	uc002zds.2	P56182	OTTHUMG00000086884	ENST00000497547.1:c.272C>T	21.37:g.45212608C>T	ENSP00000417464:p.Ala91Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB2	Missense_Mutation	SNP	pfam_Nop52	p.A91V	ENST00000497547.1	37	c.272	CCDS42951.1	21	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674114	0.47781	.	.	ENSG00000160214	ENST00000497547;ENST00000400387	T	0.47869	0.83	5.09	5.09	0.68999	.	0.824042	0.11401	N	0.567795	T	0.47893	0.1470	M	0.63208	1.945	0.80722	D	1	B;P	0.46784	0.385;0.884	B;B	0.37692	0.164;0.256	T	0.57254	-0.7843	10	0.87932	D	0	.	15.3983	0.74816	0.0:1.0:0.0:0.0	.	91;91	B4DZM3;P56182	.;RRP1_HUMAN	V	91	ENSP00000417464:A91V	ENSP00000383237:A91V	A	+	2	0	RRP1	44037036	1.000000	0.71417	0.998000	0.56505	0.152000	0.21847	3.612000	0.54142	2.349000	0.79799	0.609000	0.83330	GCG	RRP1	-	pfam_Nop52	ENSG00000160214		0.502	RRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1	HGNC	protein_coding	OTTHUMT00000195680.1	130	0.00	0	C	NM_003683		45212608	45212608	+1	no_errors	ENST00000497547	ensembl	human	known	69_37n	missense	79	12.22	11	SNP	0.991	T
RRP12	23223	genome.wustl.edu	37	10	99118588	99118588	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99118588G>T	ENST00000370992.4	-	32	3820				RRP12_ENST00000315563.6_Intron|RRP12_ENST00000536831.1_Intron|RRP12_ENST00000414986.1_Intron|RRP12_ENST00000479481.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCTGGCCTCAGTTGAGTTCCA	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3708+111C>A	10.37:g.99118588G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	RNA	SNP	-	NULL	ENST00000370992.4	37	NULL	CCDS7457.1	10																																																																																			RRP12	-	-	ENSG00000052749		0.552	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	30	0.00	0	G	NM_015179		99118588	99118588	-1	no_errors	ENST00000465394	ensembl	human	known	69_37n	rna	26	38.10	16	SNP	0.000	T
RRP12	23223	genome.wustl.edu	37	10	99160153	99160153	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:99160153C>T	ENST00000370992.4	-	2	389	c.278G>A	c.(277-279)gGt>gAt	p.G93D	RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000315563.6_Missense_Mutation_p.G93D|RRP12_ENST00000414986.1_Missense_Mutation_p.G93D	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	93						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGGAAGGTACCCGAGGACTT	0.597																																						dbGAP											0													127.0	123.0	124.0					10																	99160153		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.278G>A	10.37:g.99160153C>T	ENSP00000360031:p.Gly93Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.G93D	ENST00000370992.4	37	c.278	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	7.630	0.678752	0.14841	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.30448	1.59;1.53;1.53	5.7	-3.39	0.04868	.	0.423757	0.26812	N	0.022380	T	0.26629	0.0651	L	0.43152	1.355	0.24861	N	0.992342	B;P;B	0.36909	0.437;0.573;0.374	B;B;B	0.37346	0.117;0.232;0.247	T	0.15178	-1.0446	10	0.29301	T	0.29	-2.5407	20.2081	0.98283	0.0908:0.1523:0.757:0.0	.	93;93;93	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	D	93	ENSP00000360031:G93D;ENSP00000324315:G93D;ENSP00000414863:G93D	ENSP00000324315:G93D	G	-	2	0	RRP12	99150143	0.057000	0.20700	0.002000	0.10522	0.072000	0.16883	-0.244000	0.08903	-0.558000	0.06118	0.462000	0.41574	GGT	RRP12	-	NULL	ENSG00000052749		0.597	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	80	0.00	0	C	NM_015179		99160153	99160153	-1	no_errors	ENST00000370992	ensembl	human	known	69_37n	missense	74	26.47	27	SNP	0.069	T
RSBN1	54665	genome.wustl.edu	37	1	114311005	114311005	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:114311005C>A	ENST00000261441.5	-	5	1728	c.1665G>T	c.(1663-1665)atG>atT	p.M555I	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	555						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATTTCATTCATTGATCTAG	0.388																																						dbGAP											0													111.0	111.0	111.0					1																	114311005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1665G>T	1.37:g.114311005C>A	ENSP00000261441:p.Met555Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.M555I	ENST00000261441.5	37	c.1665	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674625	0.67928	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	N	0.04508	-0.205	0.58432	D	0.999997	P	0.40834	0.73	B	0.41202	0.35	T	0.21759	-1.0236	9	0.06236	T	0.91	-10.4581	19.8336	0.96646	0.0:1.0:0.0:0.0	.	555	Q5VWQ0	RSBN1_HUMAN	I	555	.	ENSP00000261441:M555I	M	-	3	0	RSBN1	114112528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.559000	0.36320	2.692000	0.91855	0.655000	0.94253	ATG	RSBN1	-	NULL	ENSG00000081019		0.388	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	397	0.00	0	C	NM_018364		114311005	114311005	-1	no_errors	ENST00000261441	ensembl	human	known	69_37n	missense	291	11.55	38	SNP	1.000	A
RSBN1L	222194	genome.wustl.edu	37	7	77407726	77407726	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:77407726G>A	ENST00000334955.8	+	7	1892	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	RSBN1L_ENST00000445288.1_Missense_Mutation_p.R352Q	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	622						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTAGTTCAACGAATGCAGTTA	0.323																																						dbGAP											0													134.0	118.0	123.0					7																	77407726		1841	4102	5943	-	-	-	SO:0001583	missense	0			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1865G>A	7.37:g.77407726G>A	ENSP00000334040:p.Arg622Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.R622Q	ENST00000334955.8	37	c.1865	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644369	0.87859	.	.	ENSG00000187257	ENST00000334955;ENST00000445288;ENST00000445512;ENST00000441514	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.82287	0.5004	M	0.72894	2.215	0.58432	D	0.999996	D	0.76494	0.999	D	0.72338	0.977	T	0.81491	-0.0909	9	0.59425	D	0.04	-7.2435	20.6721	0.99693	0.0:0.0:1.0:0.0	.	622	Q6PCB5	RSBNL_HUMAN	Q	622;352;160;128	.	ENSP00000334040:R622Q	R	+	2	0	RSBN1L	77245662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.414000	0.97362	2.894000	0.99253	0.591000	0.81541	CGA	RSBN1L	-	NULL	ENSG00000187257		0.323	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	244	0.00	0	G	NM_198467		77407726	77407726	+1	no_errors	ENST00000334955	ensembl	human	known	69_37n	missense	138	29.80	59	SNP	1.000	A
RSL1D1	26156	genome.wustl.edu	37	16	11931711	11931711	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:11931711G>T	ENST00000571133.1	-	9	1478	c.1406C>A	c.(1405-1407)tCt>tAt	p.S469Y	RSL1D1_ENST00000542106.1_Missense_Mutation_p.S249Y	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	469					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTCTCACAGATTTACTAGG	0.458																																						dbGAP											0													190.0	207.0	201.0					16																	11931711		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1406C>A	16.37:g.11931711G>T	ENSP00000460871:p.Ser469Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	pfam_Ribosomal_L1,superfamily_Ribosomal_L1_SF	p.S469Y	ENST00000571133.1	37	c.1406	CCDS10551.1	16	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456224	0.43634	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T	0.44482	0.92	4.8	4.8	0.61643	.	0.438355	0.24952	N	0.034297	T	0.59238	0.2179	L	0.54323	1.7	0.43172	D	0.994977	D	0.89917	1.0	D	0.85130	0.997	T	0.61456	-0.7059	10	0.72032	D	0.01	-11.2998	14.0871	0.64964	0.0:0.0:1.0:0.0	.	469	O76021	RL1D1_HUMAN	Y	468;469;249	ENSP00000442089:S249Y	ENSP00000347897:S468Y	S	-	2	0	RSL1D1	11839212	0.946000	0.32159	0.676000	0.29932	0.037000	0.13140	2.442000	0.44873	2.586000	0.87340	0.563000	0.77884	TCT	RSL1D1	-	NULL	ENSG00000171490		0.458	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSL1D1	HGNC	protein_coding	OTTHUMT00000252059.2	288	0.00	0	G	NM_015659		11931711	11931711	-1	no_errors	ENST00000571133	ensembl	human	known	69_37n	missense	202	14.41	34	SNP	0.874	T
RSPH1	89765	genome.wustl.edu	37	21	43896054	43896054	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:43896054C>A	ENST00000291536.3	-	8	998	c.831G>T	c.(829-831)gaG>gaT	p.E277D	RSPH1_ENST00000398352.3_Missense_Mutation_p.E239D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	277					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ACTCCCGGCTCTCTTCCCGGA	0.637																																					Esophageal Squamous(23;63 706 6286 10288 12913)	dbGAP											0													173.0	135.0	148.0					21																	43896054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.831G>T	21.37:g.43896054C>A	ENSP00000291536:p.Glu277Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E277D	ENST00000291536.3	37	c.831	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	C	4.880	0.163597	0.09287	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.61627	0.09;0.16	2.44	-2.2	0.06994	.	3.374130	0.02984	U	0.146024	T	0.34919	0.0914	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13388	-1.0511	10	0.12430	T	0.62	.	6.3332	0.21282	0.0:0.293:0.5741:0.1329	.	277	Q8WYR4	RSPH1_HUMAN	D	277;239	ENSP00000291536:E277D;ENSP00000381395:E239D	ENSP00000291536:E277D	E	-	3	2	RSPH1	42769123	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.352000	0.07701	-0.545000	0.06224	-0.305000	0.09177	GAG	RSPH1	-	NULL	ENSG00000160188		0.637	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	120	0.00	0	C			43896054	43896054	-1	no_errors	ENST00000291536	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	0.000	A
RSPH4A	345895	genome.wustl.edu	37	6	116951691	116951691	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:116951691G>A	ENST00000229554.5	+	5	2029	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	RSPH4A_ENST00000368581.4_Missense_Mutation_p.E586K|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G384E	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	631					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTGGCCTGGAGCATATGCC	0.408									Kartagener syndrome																													dbGAP											0													140.0	116.0	124.0					6																	116951691		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1892G>A	6.37:g.116951691G>A	ENSP00000229554:p.Gly631Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.G631E	ENST00000229554.5	37	c.1892	CCDS34521.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.207545|5.207545	0.95033|0.95033	.|.	.|.	ENSG00000111834|ENSG00000111834	ENST00000368581|ENST00000229554;ENST00000447842;ENST00000368580	T|T;T	0.66099|0.72051	-0.19|-0.62;-0.62	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82504|0.82504	0.5051|0.5051	.|.	.|.	.|.	0.36312|0.36312	D|D	0.857725|0.857725	D|D	0.53619|0.89917	0.961|1.0	P|D	0.54590|0.97110	0.756|1.0	D|D	0.85504|0.85504	0.1193|0.1193	8|9	0.87932|0.87932	D|D	0|0	-28.5613|-28.5613	16.8765|16.8765	0.86053|0.86053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	586|631	Q5TD94-3|Q5TD94	.|RSH4A_HUMAN	K|E	586|631;426;384	ENSP00000357570:E586K|ENSP00000229554:G631E;ENSP00000357569:G384E	ENSP00000357570:E586K|ENSP00000229554:G631E	E|G	+|+	1|2	0|0	RSPH4A|RSPH4A	117058384|117058384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.461000|9.461000	0.97646|0.97646	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	GAG|GGA	RSPH4A	-	pfam_Radial_spoke	ENSG00000111834		0.408	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	272	0.00	0	G	NM_001010892		116951691	116951691	+1	no_errors	ENST00000229554	ensembl	human	known	69_37n	missense	170	27.97	66	SNP	1.000	A
RSPH6A	81492	genome.wustl.edu	37	19	46318102	46318102	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:46318102G>A	ENST00000221538.3	-	1	475	c.333C>T	c.(331-333)gtC>gtT	p.V111V	RSPH6A_ENST00000597055.1_Silent_p.V111V|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	111						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGAGCTCGGCGACCTGCATCC	0.612																																						dbGAP											0													48.0	48.0	48.0					19																	46318102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.333C>T	19.37:g.46318102G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FE2|Q6PEZ9	Silent	SNP	pfam_Radial_spoke	p.V111	ENST00000221538.3	37	c.333	CCDS12675.1	19																																																																																			RSPH6A	-	NULL	ENSG00000104941		0.612	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	49	0.00	0	G			46318102	46318102	-1	no_errors	ENST00000221538	ensembl	human	known	69_37n	silent	22	35.29	12	SNP	0.000	A
RSPRY1	89970	genome.wustl.edu	37	16	57246892	57246892	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:57246892C>T	ENST00000537866.1	+	5	1398	c.525C>T	c.(523-525)ctC>ctT	p.L175L	RSPRY1_ENST00000394420.4_Silent_p.L175L			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	175						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AGGATGCACTCCAGAAATTGA	0.408																																						dbGAP											0													97.0	100.0	99.0					16																	57246892		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.525C>T	16.37:g.57246892C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX21|Q8ND53	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.L175	ENST00000537866.1	37	c.525	CCDS10775.1	16																																																																																			RSPRY1	-	superfamily_ARM-type_fold	ENSG00000159579		0.408	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	88	0.00	0	C	NM_133368		57246892	57246892	+1	no_errors	ENST00000394420	ensembl	human	known	69_37n	silent	21	48.78	20	SNP	1.000	T
RTCA	8634	genome.wustl.edu	37	1	100740417	100740417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:100740417C>T	ENST00000370128.4	+	6	680	c.511C>T	c.(511-513)Cga>Tga	p.R171*	RTCA_ENST00000260563.4_Nonsense_Mutation_p.R184*	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	171					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)	p.R171*(1)									AGTGATTGTTCGAATGTCACC	0.378																																						dbGAP											1	Substitution - Nonsense(1)	skin(1)											145.0	145.0	145.0					1																	100740417		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.511C>T	1.37:g.100740417C>T	ENSP00000359146:p.Arg171*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVL5|Q5VVL6|Q96E99	Nonsense_Mutation	SNP	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1	p.R184*	ENST00000370128.4	37	c.550	CCDS768.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580310	0.86645	.	.	ENSG00000137996	ENST00000370128;ENST00000260563	.	.	.	5.37	5.37	0.77165	.	0.349711	0.30060	N	0.010509	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2547	17.3081	0.87201	0.0:1.0:0.0:0.0	.	.	.	.	X	171;184	.	ENSP00000260563:R184X	R	+	1	2	RTCD1	100513005	0.973000	0.33851	0.986000	0.45419	0.752000	0.42762	5.579000	0.67457	2.534000	0.85438	0.563000	0.77884	CGA	RTCA	-	pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,tigrfam_RNA3'_term_phos_cyc_type_1	ENSG00000137996		0.378	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCA	HGNC	protein_coding	OTTHUMT00000030098.2	306	0.00	0	C			100740417	100740417	+1	no_errors	ENST00000260563	ensembl	human	known	69_37n	nonsense	222	13.23	34	SNP	1.000	T
RTF1	23168	genome.wustl.edu	37	15	41709442	41709442	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:41709442G>T	ENST00000389629.4	+	1	141	c.129G>T	c.(127-129)aaG>aaT	p.K43N	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	43					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CCATGGTAAAGAAGCGGAAAG	0.741																																						dbGAP											0													19.0	21.0	21.0					15																	41709442		692	1591	2283	-	-	-	SO:0001583	missense	0			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.129G>T	15.37:g.41709442G>T	ENSP00000374280:p.Lys43Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.K43N	ENST00000389629.4	37	c.129	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997758	0.93227	.	.	ENSG00000137815	ENST00000389629	.	.	.	4.06	4.06	0.47325	.	0.000000	0.64402	U	0.000001	T	0.77068	0.4076	M	0.72353	2.195	0.51767	D	0.999939	D	0.57899	0.981	D	0.67231	0.95	T	0.81084	-0.1093	9	0.87932	D	0	-3.6793	16.3502	0.83202	0.0:0.0:1.0:0.0	.	43	Q92541	RTF1_HUMAN	N	43	.	ENSP00000374280:K43N	K	+	3	2	RTF1	39496734	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.393000	0.79851	2.252000	0.74401	0.462000	0.41574	AAG	RTF1	-	NULL	ENSG00000137815		0.741	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	21	0.00	0	G	NM_015138		41709442	41709442	+1	no_errors	ENST00000389629	ensembl	human	known	69_37n	missense	1	75.00	3	SNP	1.000	T
RTKN2	219790	genome.wustl.edu	37	10	64022543	64022543	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:64022543C>T	ENST00000373789.3	-	2	194	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q|RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	33					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTCTCGCATTCGAATTTCTAA	0.333																																						dbGAP											0													91.0	79.0	83.0					10																	64022543		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.98G>A	10.37:g.64022543C>T	ENSP00000362894:p.Arg33Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R33Q	ENST00000373789.3	37	c.98	CCDS7263.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.299794	0.95574	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.39997	1.2;1.05;1.32	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.63134	-0.6705	10	0.48119	T	0.1	18.0805	19.3863	0.94557	0.0:1.0:0.0:0.0	.	33;33	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	Q	33	ENSP00000378682:R33Q;ENSP00000362894:R33Q;ENSP00000378678:R33Q	ENSP00000362894:R33Q	R	-	2	0	RTKN2	63692549	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.151000	0.64875	2.739000	0.93911	0.655000	0.94253	CGA	RTKN2	-	superfamily_HR1_rho-bd,smart_HR1_rho-bd	ENSG00000182010		0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1	242	0.00	0	C	NM_145307		64022543	64022543	-1	no_errors	ENST00000373789	ensembl	human	known	69_37n	missense	133	16.35	26	SNP	1.000	T
RTL1	388015	genome.wustl.edu	37	14	101348697	101348697	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:101348697C>T	ENST00000534062.1	-	1	2487	c.2429G>A	c.(2428-2430)cGa>cAa	p.R810Q	MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	810					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATGAAGTTTCGCAGAGATAG	0.562																																						dbGAP											0													138.0	129.0	132.0					14																	101348697		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2429G>A	14.37:g.101348697C>T	ENSP00000435342:p.Arg810Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.R810Q	ENST00000534062.1	37	c.2429	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874532	0.00542	.	.	ENSG00000254656	ENST00000534062	T	0.46063	0.88	3.33	-5.41	0.02648	.	2.502450	0.02302	N	0.071266	T	0.30293	0.0760	L	0.37850	1.14	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47799	-0.9089	10	0.02654	T	1	.	14.0199	0.64547	0.0:0.1716:0.0:0.8284	.	810	E9PKS8	.	Q	810	ENSP00000435342:R810Q	ENSP00000435342:R810Q	R	-	2	0	RTL1	100418450	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.104000	0.10923	-1.483000	0.01858	-0.459000	0.05422	CGA	RTL1	-	NULL	ENSG00000254656		0.562	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	69	0.00	0	C	NM_001134888		101348697	101348697	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	52	20.83	15	SNP	0.000	T
RTL1	388015	genome.wustl.edu	37	14	101349481	101349481	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:101349481T>C	ENST00000534062.1	-	1	1703	c.1645A>G	c.(1645-1647)Atg>Gtg	p.M549V	MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	549					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGCAGGCTCATGCCGTGCCTC	0.597																																						dbGAP											0													44.0	44.0	44.0					14																	101349481		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1645A>G	14.37:g.101349481T>C	ENSP00000435342:p.Met549Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.M549V	ENST00000534062.1	37	c.1645	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	T	4.485	0.089952	0.08632	.	.	ENSG00000254656	ENST00000534062	T	0.20463	2.07	3.8	-2.75	0.05914	.	0.701207	0.11626	N	0.545243	T	0.06690	0.0171	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36578	-0.9742	10	0.23302	T	0.38	.	5.8589	0.18734	0.0:0.3748:0.3366:0.2885	.	549	E9PKS8	.	V	549	ENSP00000435342:M549V	ENSP00000435342:M549V	M	-	1	0	RTL1	100419234	0.005000	0.15991	0.052000	0.19188	0.963000	0.63663	-0.675000	0.05227	-0.543000	0.06240	0.533000	0.62120	ATG	RTL1	-	NULL	ENSG00000254656		0.597	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	64	0.00	0	T	NM_001134888		101349481	101349481	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	37	13.64	6	SNP	0.027	C
RTL1	388015	genome.wustl.edu	37	14	101349583	101349583	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:101349583C>T	ENST00000534062.1	-	1	1601	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	515					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CAGTCGACTTCGGGGGCGTGG	0.597																																						dbGAP											0													37.0	40.0	39.0					14																	101349583		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1543G>A	14.37:g.101349583C>T	ENSP00000435342:p.Glu515Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.E515K	ENST00000534062.1	37	c.1543	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664290	0.14710	.	.	ENSG00000254656	ENST00000534062	T	0.22945	1.93	3.83	3.83	0.44106	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	P	0.43352	0.804	B	0.25140	0.058	T	0.05954	-1.0854	9	0.09338	T	0.73	.	9.7169	0.40281	0.0:0.7888:0.2112:0.0	.	515	E9PKS8	.	K	515	ENSP00000435342:E515K	ENSP00000435342:E515K	E	-	1	0	RTL1	100419336	0.292000	0.24362	0.052000	0.19188	0.627000	0.37826	1.779000	0.38624	2.435000	0.82474	0.655000	0.94253	GAA	RTL1	-	superfamily_Peptidase_aspartic	ENSG00000254656		0.597	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	45	0.00	0	C	NM_001134888		101349583	101349583	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	0.102	T
RTTN	25914	genome.wustl.edu	37	18	67836265	67836265	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:67836265T>G	ENST00000255674.6	-	12	1801	c.1515A>C	c.(1513-1515)ttA>ttC	p.L505F	RTTN_ENST00000437017.1_Missense_Mutation_p.L505F|RTTN_ENST00000454359.1_Missense_Mutation_p.L505F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	505					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAAGGAGAAATAATGCTGTTG	0.308																																						dbGAP											0													75.0	70.0	72.0					18																	67836265		1806	4072	5878	-	-	-	SO:0001583	missense	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1515A>C	18.37:g.67836265T>G	ENSP00000255674:p.Leu505Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L505F	ENST00000255674.6	37	c.1515	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	t	12.89	2.074483	0.36566	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.76316	0.05;-1.01;-1.01	5.4	0.16	0.14972	Armadillo-type fold (1);	0.198544	0.38272	N	0.001742	D	0.82825	0.5121	M	0.66939	2.045	0.29280	N	0.870097	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	T	0.75722	-0.3218	10	0.33141	T	0.24	.	9.2344	0.37457	0.0:0.534:0.0:0.466	.	505;505	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	F	505	ENSP00000255674:L505F;ENSP00000402352:L505F;ENSP00000399520:L505F	ENSP00000255674:L505F	L	-	3	2	RTTN	65987245	0.009000	0.17119	0.971000	0.41717	0.350000	0.29205	-1.183000	0.03079	0.037000	0.15575	-0.394000	0.06481	TTA	RTTN	-	superfamily_ARM-type_fold	ENSG00000176225		0.308	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	265	0.00	0	T	NM_173630		67836265	67836265	-1	no_errors	ENST00000255674	ensembl	human	known	69_37n	missense	178	12.75	26	SNP	0.998	G
RUFY1	80230	genome.wustl.edu	37	5	179016622	179016622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:179016622C>T	ENST00000319449.4	+	9	1114	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	RUFY1_ENST00000393438.2_Nonsense_Mutation_p.R260*|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Nonsense_Mutation_p.R260*	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	368					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAATTAATTCGAGAAAGAAG	0.388										HNSCC(44;0.11)																												dbGAP											0													103.0	101.0	102.0					5																	179016622		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1102C>T	5.37:g.179016622C>T	ENSP00000325594:p.Arg368*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FF3|Q71S93|Q9H6I3	Nonsense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.R368*	ENST00000319449.4	37	c.1102	CCDS4445.2	5	.	.	.	.	.	.	.	.	.	.	C	38	6.909647	0.97928	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438	.	.	.	5.47	5.47	0.80525	.	0.055941	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-12.448	19.3849	0.94553	0.0:1.0:0.0:0.0	.	.	.	.	X	368;260;260	.	ENSP00000325594:R368X	R	+	1	2	RUFY1	178949228	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	4.156000	0.58138	2.581000	0.87130	0.549000	0.68633	CGA	RUFY1	-	NULL	ENSG00000176783		0.388	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	184	0.00	0	C	NM_001040451		179016622	179016622	+1	no_errors	ENST00000319449	ensembl	human	known	69_37n	nonsense	148	21.69	41	SNP	1.000	T
RUFY2	55680	genome.wustl.edu	37	10	70139143	70139143	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70139143G>T	ENST00000602465.1	-	12	1306				RUFY2_ENST00000265865.3_5'Flank|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000388768.2_Intron|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000472394.2_5'Flank			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2							nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						aagggaagaagaaaagaaaaa	0.373																																						dbGAP											0													71.0	71.0	71.0					10																	70139143		1824	4065	5889	-	-	-	SO:0001627	intron_variant	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1205+37C>A	10.37:g.70139143G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	RNA	SNP	-	NULL	ENST00000602465.1	37	NULL		10																																																																																			RUFY2	-	-	ENSG00000204130		0.373	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	171	0.00	0	G	NM_017987		70139143	70139143	-1	no_errors	ENST00000491118	ensembl	human	known	69_37n	rna	158	11.05	20	SNP	0.000	T
RUFY2	55680	genome.wustl.edu	37	10	70143578	70143578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70143578G>A	ENST00000602465.1	-	10	1016	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RUFY2_ENST00000454950.2_Nonsense_Mutation_p.R248*|RUFY2_ENST00000388768.2_Nonsense_Mutation_p.R341*|RUFY2_ENST00000399200.2_Nonsense_Mutation_p.R272*|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	355						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATTCATCTCGAAGCTGCCTT	0.388																																						dbGAP											0													163.0	150.0	154.0					10																	70143578		1882	4118	6000	-	-	-	SO:0001587	stop_gained	0			AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.916C>T	10.37:g.70143578G>A	ENSP00000473462:p.Arg306*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Nonsense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel	p.R341*	ENST00000602465.1	37	c.1021		10	.	.	.	.	.	.	.	.	.	.	G	35	5.532810	0.96446	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	.	.	.	5.08	4.16	0.48862	.	0.190755	0.45867	D	0.000328	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	12.7139	0.57103	0.0:0.0:0.7004:0.2996	.	.	.	.	X	341;272;248	.	ENSP00000373420:R341X	R	-	1	2	RUFY2	69813584	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	3.084000	0.50143	1.331000	0.45412	0.573000	0.79308	CGA	RUFY2	-	NULL	ENSG00000204130		0.388	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	RUFY2	HGNC	protein_coding	OTTHUMT00000467567.1	192	0.00	0	G	NM_017987		70143578	70143578	-1	no_errors	ENST00000388768	ensembl	human	known	69_37n	nonsense	105	24.46	34	SNP	0.995	A
RUNDC3B	154661	genome.wustl.edu	37	7	87407141	87407141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:87407141C>T	ENST00000338056.3	+	9	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RUNDC3B_ENST00000493037.1_Nonsense_Mutation_p.R276*|RUNDC3B_ENST00000394654.3_Nonsense_Mutation_p.R276*	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	293								p.R293*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTACGACTTCGAGAGAACCA	0.363																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											60.0	60.0	60.0					7																	87407141		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.877C>T	7.37:g.87407141C>T	ENSP00000337732:p.Arg293*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Nonsense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.R293*	ENST00000338056.3	37	c.877	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.368325	0.98779	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1015	12.0402	0.53448	0.294:0.706:0.0:0.0	.	.	.	.	X	293;276;276	.	ENSP00000337732:R293X	R	+	1	2	RUNDC3B	87245077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.517000	0.45529	2.431000	0.82371	0.561000	0.74099	CGA	RUNDC3B	-	NULL	ENSG00000105784		0.363	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	177	0.56	1	C	NM_138290		87407141	87407141	+1	no_errors	ENST00000338056	ensembl	human	known	69_37n	nonsense	84	26.96	31	SNP	1.000	T
RUNX1T1	862	genome.wustl.edu	37	8	92983046	92983046	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:92983046G>A	ENST00000523629.1	-	11	1833	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A433V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A423V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A423V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A433V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A423V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A460V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A471V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	460					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCCGTCATCGCCTGGCGCTT	0.587																																						dbGAP											0													66.0	53.0	57.0					8																	92983046		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1379C>T	8.37:g.92983046G>A	ENSP00000428543:p.Ala460Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A471V	ENST00000523629.1	37	c.1412	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.877779	0.97055	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.945;0.999;0.995;0.994	T	0.72944	-0.4138	10	0.59425	D	0.04	-13.3606	20.2181	0.98305	0.0:0.0:1.0:0.0	.	471;423;460;433	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	460;433;460;423;423;423;471;433	ENSP00000428543:A460V;ENSP00000379520:A433V;ENSP00000265814:A460V;ENSP00000353504:A423V;ENSP00000390137:A423V;ENSP00000428742:A423V;ENSP00000402257:A471V;ENSP00000430728:A433V	ENSP00000265814:A460V	A	-	2	0	RUNX1T1	93052222	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GCG	RUNX1T1	-	prints_ETO	ENSG00000079102		0.587	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	55	0.00	0	G	NM_004349, NM_175635		92983046	92983046	-1	no_errors	ENST00000436581	ensembl	human	known	69_37n	missense	46	12.96	7	SNP	1.000	A
FDPS	2224	genome.wustl.edu	37	1	155290407	155290407	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:155290407G>A	ENST00000356657.6	+	0	1429				FDPS_ENST00000368356.4_3'UTR|RUSC1-AS1_ENST00000450199.1_RNA|FDPS_ENST00000447866.1_3'UTR|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase						cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GTGACCTAGAGATTGCAAGGG	0.532																																						dbGAP											0													30.0	31.0	30.0					1																	155290407		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.*7G>A	1.37:g.155290407G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV91|E9PCI9|Q96G29	RNA	SNP	-	NULL	ENST00000356657.6	37	NULL	CCDS1110.1	1																																																																																			RUSC1-AS1	-	-	ENSG00000225855		0.532	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1-AS1	HGNC	protein_coding	OTTHUMT00000039053.1	128	0.00	0	G	NM_002004		155290407	155290407	-1	no_errors	ENST00000450199	ensembl	human	known	69_37n	rna	50	35.06	27	SNP	0.000	A
RUVBL1	8607	genome.wustl.edu	37	3	127816333	127816333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:127816333G>A	ENST00000322623.5	-	8	925	c.826C>T	c.(826-828)Cga>Tga	p.R276*	RUVBL1_ENST00000464873.1_Nonsense_Mutation_p.R216*|RUVBL1_ENST00000417360.1_Nonsense_Mutation_p.R276*	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	276					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATCTCCCCTCGAAGTTTGTCT	0.522																																						dbGAP											0													119.0	97.0	104.0					3																	127816333		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.826C>T	3.37:g.127816333G>A	ENSP00000318297:p.Arg276*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Nonsense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	p.R276*	ENST00000322623.5	37	c.826	CCDS3047.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	46|46	12.867736|12.867736	0.99702|0.99702	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892|ENST00000472125	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65770	.|0.2723	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69815	.|-0.5043	.|3	0.02654|.	T|.	1|.	-26.1486|-26.1486	14.4021|14.4021	0.67053|0.67053	0.0:0.0:0.8524:0.1476|0.0:0.0:0.8524:0.1476	.|.	.|.	.|.	.|.	X|L	216;276;276;75|95	.|.	ENSP00000318297:R276X|.	R|S	-|-	1|2	2|0	RUVBL1|RUVBL1	129299023|129299023	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.994000|0.994000	0.84299|0.84299	4.055000|4.055000	0.57441|0.57441	2.619000|2.619000	0.88677|0.88677	0.491000|0.491000	0.48974|0.48974	CGA|TCG	RUVBL1	-	pfam_TIP49_C,smart_AAA+_ATPase	ENSG00000175792		0.522	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2	271	0.00	0	G			127816333	127816333	-1	no_errors	ENST00000322623	ensembl	human	known	69_37n	nonsense	238	14.03	39	SNP	0.998	A
RUVBL1	8607	genome.wustl.edu	37	3	127819557	127819557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:127819557C>A	ENST00000322623.5	-	6	733	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	RUVBL1_ENST00000464873.1_Nonsense_Mutation_p.E152*|RUVBL1_ENST00000417360.1_Nonsense_Mutation_p.E212*	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	212					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		AGGTCGAATTCTGTGGCATAG	0.468																																						dbGAP											0													130.0	111.0	117.0					3																	127819557		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.634G>T	3.37:g.127819557C>A	ENSP00000318297:p.Glu212*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Nonsense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	p.E212*	ENST00000322623.5	37	c.634	CCDS3047.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.702516|11.702516	0.99593|0.99593	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892|ENST00000472125	.|.	.|.	.|.	5.49|5.49	3.66|3.66	0.41972|0.41972	.|.	0.090596|.	0.85682|.	D|.	0.000000|.	.|T	.|0.61751	.|0.2372	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68116	.|-0.5494	.|3	0.87932|.	D|.	0|.	-23.7852|-23.7852	12.8083|12.8083	0.57626|0.57626	0.1309:0.7436:0.1256:0.0|0.1309:0.7436:0.1256:0.0	.|.	.|.	.|.	.|.	X|I	152;212;212;11|31	.|.	ENSP00000318297:E212X|.	E|R	-|-	1|2	0|0	RUVBL1|RUVBL1	129302247|129302247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.840000|5.840000	0.69402|0.69402	0.764000|0.764000	0.33197|0.33197	0.591000|0.591000	0.81541|0.81541	GAA|AGA	RUVBL1	-	pfam_TIP49_C,smart_AAA+_ATPase	ENSG00000175792		0.468	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2	183	0.00	0	C			127819557	127819557	-1	no_errors	ENST00000322623	ensembl	human	known	69_37n	nonsense	108	28.95	44	SNP	1.000	A
RXFP1	59350	genome.wustl.edu	37	4	159573001	159573001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:159573001G>T	ENST00000307765.5	+	18	2319	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*	RXFP1_ENST00000460056.2_Nonsense_Mutation_p.E609*|RXFP1_ENST00000470033.1_Nonsense_Mutation_p.E657*|RXFP1_ENST00000343542.5_Nonsense_Mutation_p.E642*|RXFP1_ENST00000448688.2_Nonsense_Mutation_p.E585*	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	690					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACCATTTAAAGAAATGATTCA	0.368																																						dbGAP											0													97.0	90.0	92.0					4																	159573001		1849	4088	5937	-	-	-	SO:0001587	stop_gained	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2068G>T	4.37:g.159573001G>T	ENSP00000303248:p.Glu690*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.E690*	ENST00000307765.5	37	c.2068	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	46	12.940647	0.99707	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	19.9449	0.97179	0.0:0.0:1.0:0.0	.	.	.	.	X	609;690;585;642;657;560	.	ENSP00000303248:E690X	E	+	1	0	RXFP1	159792451	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.585000	0.98223	2.696000	0.92011	0.655000	0.94253	GAA	RXFP1	-	NULL	ENSG00000171509		0.368	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	129	0.00	0	G	NM_021634		159573001	159573001	+1	no_errors	ENST00000307765	ensembl	human	known	69_37n	nonsense	89	11.00	11	SNP	1.000	T
RXFP2	122042	genome.wustl.edu	37	13	32360537	32360537	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:32360537C>T	ENST00000298386.2	+	12	1018	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T292M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	316					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTAGCAATACGATAACGGAA	0.358																																						dbGAP											0													122.0	111.0	115.0					13																	32360537		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.947C>T	13.37:g.32360537C>T	ENSP00000298386:p.Thr316Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.T316M	ENST00000298386.2	37	c.947	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	T	11.06	1.527268	0.27299	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.57752	0.38;0.38	5.72	1.32	0.21799	.	0.418879	0.29466	N	0.012063	T	0.24122	0.0584	N	0.05383	-0.06	0.18873	N	0.999987	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.06881	-1.0802	10	0.35671	T	0.21	.	1.9951	0.03455	0.2094:0.0775:0.252:0.4611	.	292;316	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	M	292;316	ENSP00000369670:T292M;ENSP00000298386:T316M	ENSP00000298386:T316M	T	+	2	0	RXFP2	31258537	0.000000	0.05858	0.872000	0.34217	0.879000	0.50718	-0.403000	0.07214	0.419000	0.25927	-0.254000	0.11334	ACG	RXFP2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000133105		0.358	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	276	0.00	0	C	NM_130806		32360537	32360537	+1	no_errors	ENST00000298386	ensembl	human	known	69_37n	missense	183	16.82	37	SNP	0.882	T
RYR1	6261	genome.wustl.edu	37	19	38958302	38958302	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38958302G>A	ENST00000359596.3	+	25	3231	c.3231G>A	c.(3229-3231)gaG>gaA	p.E1077E	RYR1_ENST00000360985.3_Silent_p.E1077E|RYR1_ENST00000355481.4_Silent_p.E1077E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1077	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	TCCGGGCAGAGAAATCCTATA	0.592																																						dbGAP											0													100.0	94.0	96.0					19																	38958302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.3231G>A	19.37:g.38958302G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E1077	ENST00000359596.3	37	c.3231	CCDS33011.1	19																																																																																			RYR1	-	pfscan_B30.2/SPRY	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	198	0.00	0	G			38958302	38958302	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	154	11.86	21	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	39025386	39025386	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:39025386C>A	ENST00000359596.3	+	79	11286	c.11286C>A	c.(11284-11286)ctC>ctA	p.L3762L	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000360985.3_Silent_p.L3762L|RYR1_ENST00000355481.4_Silent_p.L3757L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3762					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)	AGCAGAGGCTCTTGTACCAGC	0.587																																						dbGAP											0													52.0	47.0	49.0					19																	39025386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.11286C>A	19.37:g.39025386C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L3762	ENST00000359596.3	37	c.11286	CCDS33011.1	19																																																																																			RYR1	-	NULL	ENSG00000196218		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	252	0.00	0	C			39025386	39025386	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	silent	154	14.92	27	SNP	0.849	A
RYR1	6261	genome.wustl.edu	37	19	39051876	39051876	+	Missense_Mutation	SNP	C	C	T	rs193922849		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:39051876C>T	ENST00000359596.3	+	90	12406	c.12406C>T	c.(12406-12408)Cgc>Tgc	p.R4136C	RYR1_ENST00000360985.3_Missense_Mutation_p.R4131C|RYR1_ENST00000355481.4_Missense_Mutation_p.R4131C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4136			R -> S (in MHS1). {ECO:0000269|PubMed:12208234}.		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)	GGAGCCAGCACGCGACATCGG	0.592																																						dbGAP											0			GRCh37	CM023977	RYR1	M							84.0	72.0	76.0					19																	39051876		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.12406C>T	19.37:g.39051876C>T	ENSP00000352608:p.Arg4136Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R4136C	ENST00000359596.3	37	c.12406	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675184	0.29783	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97016	-4.21;-4.21;-4.21	3.35	3.35	0.38373	.	0.091449	0.40469	U	0.001086	D	0.95598	0.8569	L	0.55481	1.735	0.49213	D	0.999764	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.53861	0.736;0.736;0.548	D	0.94977	0.8122	10	0.87932	D	0	.	8.9075	0.35532	0.3927:0.6073:0.0:0.0	.	4131;4131;4136	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	C	4136;4131;4131	ENSP00000352608:R4136C;ENSP00000347667:R4131C;ENSP00000354254:R4131C	ENSP00000347667:R4131C	R	+	1	0	RYR1	43743716	0.999000	0.42202	0.991000	0.47740	0.797000	0.45037	3.649000	0.54417	1.904000	0.55121	0.298000	0.19748	CGC	RYR1	-	NULL	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	159	0.00	0	C			39051876	39051876	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	105	25.69	37	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237580419	237580419	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237580419G>C	ENST00000366574.2	+	11	1161	c.844G>C	c.(844-846)Gtt>Ctt	p.V282L	RYR2_ENST00000542537.1_Missense_Mutation_p.V266L|RYR2_ENST00000360064.6_Missense_Mutation_p.V280L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	282					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACGCTAAGAGTTGCGTAAGT	0.443																																						dbGAP											0													119.0	115.0	117.0					1																	237580419		2053	4221	6274	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.844G>C	1.37:g.237580419G>C	ENSP00000355533:p.Val282Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V280L	ENST00000366574.2	37	c.838	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713746	0.68730	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.86432	-2.12;-2.12;-2.12	5.98	5.98	0.97165	MIR (2);	0.000000	0.53938	D	0.000052	D	0.85915	0.5808	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	D	0.85858	0.1408	10	0.51188	T	0.08	.	13.6254	0.62161	0.0702:0.0:0.9297:0.0	.	282	Q92736	RYR2_HUMAN	L	282;280;266	ENSP00000355533:V282L;ENSP00000353174:V280L;ENSP00000443798:V266L	ENSP00000353174:V280L	V	+	1	0	RYR2	235647042	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	4.824000	0.62701	2.835000	0.97688	0.650000	0.86243	GTT	RYR2	-	pfam_MIR,superfamily_MIR,prints_Ryan_recept	ENSG00000198626		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	215	0.00	0	G	NM_001035		237580419	237580419	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	201	11.06	25	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237664017	237664017	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237664017T>C	ENST00000366574.2	+	21	2527	c.2210T>C	c.(2209-2211)aTt>aCt	p.I737T	RYR2_ENST00000542537.1_Missense_Mutation_p.I721T|RYR2_ENST00000360064.6_Missense_Mutation_p.I735T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	737	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATAGGTTGTATTGCTCGTACT	0.393																																						dbGAP											0													277.0	260.0	266.0					1																	237664017		1886	4120	6006	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2210T>C	1.37:g.237664017T>C	ENSP00000355533:p.Ile737Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.I735T	ENST00000366574.2	37	c.2204	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.327755	0.60743	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60171	0.21;0.21;0.21	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.084641	0.42682	D	0.000670	T	0.50343	0.1610	L	0.32530	0.975	0.80722	D	1	B	0.21905	0.062	B	0.27715	0.082	T	0.44283	-0.9338	10	0.38643	T	0.18	.	15.9584	0.79906	0.0:0.0:0.0:1.0	.	737	Q92736	RYR2_HUMAN	T	737;735;721	ENSP00000355533:I737T;ENSP00000353174:I735T;ENSP00000443798:I721T	ENSP00000353174:I735T	I	+	2	0	RYR2	235730640	0.999000	0.42202	0.990000	0.47175	0.954000	0.61252	7.958000	0.87877	2.165000	0.68154	0.528000	0.53228	ATT	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	326	0.31	1	T	NM_001035		237664017	237664017	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	355	10.78	43	SNP	0.977	C
RYR2	6262	genome.wustl.edu	37	1	237777817	237777817	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237777817G>A	ENST00000366574.2	+	37	5706	c.5389G>A	c.(5389-5391)Gaa>Aaa	p.E1797K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1781K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1795K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1797	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGCTGACAGAAGCTGTTAA	0.463																																						dbGAP											0													162.0	155.0	157.0					1																	237777817		1946	4146	6092	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5389G>A	1.37:g.237777817G>A	ENSP00000355533:p.Glu1797Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E1795K	ENST00000366574.2	37	c.5383	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163998	0.78339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74421	-0.84;-0.84;-0.84	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000008	D	0.82995	0.5158	M	0.69523	2.12	0.80722	D	1	D	0.58620	0.983	P	0.54238	0.746	D	0.84562	0.0650	10	0.72032	D	0.01	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1797	Q92736	RYR2_HUMAN	K	1797;1795;1781	ENSP00000355533:E1797K;ENSP00000353174:E1795K;ENSP00000443798:E1781K	ENSP00000353174:E1795K	E	+	1	0	RYR2	235844440	1.000000	0.71417	0.232000	0.24009	0.236000	0.25371	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GAA	RYR2	-	NULL	ENSG00000198626		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	148	0.00	0	G	NM_001035		237777817	237777817	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	163	14.21	27	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237778045	237778045	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237778045G>A	ENST00000366574.2	+	37	5934	c.5617G>A	c.(5617-5619)Gca>Aca	p.A1873T	RYR2_ENST00000542537.1_Missense_Mutation_p.A1857T|RYR2_ENST00000360064.6_Missense_Mutation_p.A1871T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1873	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGGACGATGCAAAGCTGCA	0.542																																						dbGAP											0													51.0	54.0	53.0					1																	237778045		2049	4187	6236	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5617G>A	1.37:g.237778045G>A	ENSP00000355533:p.Ala1873Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A1871T	ENST00000366574.2	37	c.5611	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	3.214	-0.160910	0.06502	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73152	-0.72;-0.72;-0.72	5.62	-7.7	0.01259	.	1.329800	0.05501	N	0.558450	T	0.40886	0.1135	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.16305	-1.0407	10	0.23891	T	0.37	.	3.9654	0.09429	0.0937:0.361:0.3254:0.22	.	1873	Q92736	RYR2_HUMAN	T	1873;1871;1857	ENSP00000355533:A1873T;ENSP00000353174:A1871T;ENSP00000443798:A1857T	ENSP00000353174:A1871T	A	+	1	0	RYR2	235844668	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.162000	0.03141	-1.334000	0.02244	-0.995000	0.02519	GCA	RYR2	-	NULL	ENSG00000198626		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	117	0.85	1	G	NM_001035		237778045	237778045	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	136	24.44	44	SNP	0.001	A
RYR2	6262	genome.wustl.edu	37	1	237947261	237947261	+	Silent	SNP	C	C	T	rs371599450		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237947261C>T	ENST00000366574.2	+	90	12566	c.12249C>T	c.(12247-12249)ttC>ttT	p.F4083F	RYR2_ENST00000542537.1_Silent_p.F4067F|RYR2_ENST00000360064.6_Silent_p.F4089F|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4083					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGAAGAGTTCGTCAAACGCT	0.512																																						dbGAP											0													44.0	43.0	43.0					1																	237947261		2021	4193	6214	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12249C>T	1.37:g.237947261C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.F4089	ENST00000366574.2	37	c.12267	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	113	0.00	0	C	NM_001035		237947261	237947261	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	87	16.04	17	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237947456	237947456	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237947456C>A	ENST00000366574.2	+	90	12761	c.12444C>A	c.(12442-12444)gtC>gtA	p.V4148V	RYR2_ENST00000542537.1_Silent_p.V4132V|RYR2_ENST00000360064.6_Silent_p.V4154V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4148					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V4146V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGAGAGGGTCTATTTTGAAA	0.502																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											82.0	84.0	83.0					1																	237947456		1927	4138	6065	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12444C>A	1.37:g.237947456C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V4154	ENST00000366574.2	37	c.12462	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	120	0.00	0	C	NM_001035		237947456	237947456	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	99	24.43	32	SNP	0.009	A
RYR2	6262	genome.wustl.edu	37	1	237969518	237969518	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237969518G>A	ENST00000366574.2	+	99	14550	c.14233G>A	c.(14233-14235)Gac>Aac	p.D4745N	RYR2_ENST00000542537.1_Missense_Mutation_p.D4729N|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4745					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCACCTTCTCGACATTGCTAT	0.403																																						dbGAP											0													195.0	174.0	181.0					1																	237969518		1892	4113	6005	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14233G>A	1.37:g.237969518G>A	ENSP00000355533:p.Asp4745Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D4751N	ENST00000366574.2	37	c.14251	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.465360	0.96257	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98455	-4.94;-4.94;-4.94	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.64402	U	0.000005	D	0.99309	0.9758	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.98914	1.0781	10	0.87932	D	0	.	19.5999	0.95557	0.0:0.0:1.0:0.0	.	178;4745	F5H3C7;Q92736	.;RYR2_HUMAN	N	4745;4751;4729;178	ENSP00000355533:D4745N;ENSP00000353174:D4751N;ENSP00000443798:D4729N	ENSP00000353174:D4751N	D	+	1	0	RYR2	236036141	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.775000	0.98995	2.700000	0.92200	0.655000	0.94253	GAC	RYR2	-	pfam_Ion_trans_dom	ENSG00000198626		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	321	0.00	0	G	NM_001035		237969518	237969518	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	374	12.93	56	SNP	1.000	A
S1PR1	1901	genome.wustl.edu	37	1	101704657	101704657	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:101704657G>A	ENST00000305352.6	+	2	492	c.117G>A	c.(115-117)gcG>gcA	p.A39A	S1PR1_ENST00000475821.1_3'UTR|RP4-575N6.4_ENST00000432195.1_RNA	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	39					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ATATCAGCGCGGACAAGGAGA	0.488											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													122.0	115.0	118.0					1																	101704657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.117G>A	1.37:g.101704657G>A		Somatic	1360	WXS	Illumina GAIIx	Phase_IV	D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG1_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.A39	ENST00000305352.6	37	c.117	CCDS777.1	1																																																																																			S1PR1	-	prints_EDG1_rcpt	ENSG00000170989		0.488	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	187	0.00	0	G	NM_001400		101704657	101704657	+1	no_errors	ENST00000305352	ensembl	human	known	69_37n	silent	67	31.63	31	SNP	0.000	A
S1PR1	1901	genome.wustl.edu	37	1	101705498	101705498	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:101705498C>T	ENST00000305352.6	+	2	1333	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	320					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GGAGATGCGTCGGGCCTTCAT	0.562																																						dbGAP											0													176.0	178.0	178.0					1																	101705498		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.958C>T	1.37:g.101705498C>T	ENSP00000305416:p.Arg320Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG1_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.R320W	ENST00000305352.6	37	c.958	CCDS777.1	1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210853	0.58343	.	.	ENSG00000170989	ENST00000305352	T	0.40476	1.03	5.13	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.52322	0.1727	M	0.77486	2.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.66351	0.943	T	0.62941	-0.6747	10	0.87932	D	0	.	14.2955	0.66311	0.6575:0.3425:0.0:0.0	.	320	P21453	S1PR1_HUMAN	W	320	ENSP00000305416:R320W	ENSP00000305416:R320W	R	+	1	2	S1PR1	101478086	0.039000	0.19947	0.993000	0.49108	0.941000	0.58515	0.338000	0.19858	0.471000	0.27319	0.305000	0.20034	CGG	S1PR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt	ENSG00000170989		0.562	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	53	0.00	0	C	NM_001400		101705498	101705498	+1	no_errors	ENST00000305352	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	0.905	T
RYR2	6262	genome.wustl.edu	37	1	237972336	237972336	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:237972336G>T	ENST00000366574.2	+	100	14750		c.e100+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATGCTAACAGTAAGTTCATA	0.318																																						dbGAP											0													189.0	184.0	185.0					1																	237972336		1840	4093	5933	-	-	-	SO:0001630	splice_region_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14433+1G>T	1.37:g.237972336G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	-	e102+1	ENST00000366574.2	37	c.14451+1	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029120	0.75504	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3877	0.90472	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	236038959	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.813000	0.99286	2.412000	0.81896	0.563000	0.77884	.	RYR2	-	-	ENSG00000198626		0.318	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	132	0.00	0	G	NM_001035	Intron	237972336	237972336	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	splice_site	164	15.38	30	SNP	1.000	T
SAA4	6291	genome.wustl.edu	37	11	18253073	18253073	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18253073A>G	ENST00000278222.4	-	4	549	c.369T>C	c.(367-369)ccT>ccC	p.P123P	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	123					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GCAGGCCGTCAGGTCTGAAGC	0.557																																						dbGAP											0													125.0	124.0	124.0					11																	18253073		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.369T>C	11.37:g.18253073A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHJ4	Silent	SNP	pfam_Serum_amyloid_A,superfamily_Actin_cross-linking,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A	p.P123	ENST00000278222.4	37	c.369	CCDS7832.1	11																																																																																			SAA4	-	pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A	ENSG00000148965		0.557	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAA4	HGNC	protein_coding	OTTHUMT00000389988.1	548	0.00	0	A	NM_006512		18253073	18253073	-1	no_errors	ENST00000278222	ensembl	human	known	69_37n	silent	311	10.29	36	SNP	0.121	G
SACS	26278	genome.wustl.edu	37	13	23905703	23905703	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:23905703C>A	ENST00000382292.3	-	9	12585	c.12312G>T	c.(12310-12312)atG>atT	p.M4104I	SACS_ENST00000382298.3_Missense_Mutation_p.M4104I|SACS_ENST00000402364.1_Missense_Mutation_p.M3354I			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4104					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTTAAGAGTCATTGCCAATG	0.338																																						dbGAP											0													94.0	90.0	91.0					13																	23905703		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12312G>T	13.37:g.23905703C>A	ENSP00000371729:p.Met4104Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.M4104I	ENST00000382292.3	37	c.12312	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726824	0.30593	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87103	-2.07;-2.21;-2.07	5.3	5.3	0.74995	.	0.035993	0.85682	D	0.000000	T	0.82222	0.4990	L	0.36672	1.1	0.58432	D	0.999995	B	0.26318	0.146	B	0.22152	0.038	T	0.77603	-0.2526	10	0.22109	T	0.4	.	18.948	0.92628	0.0:1.0:0.0:0.0	.	4104	Q9NZJ4	SACS_HUMAN	I	4104;3354;4104	ENSP00000371729:M4104I;ENSP00000385844:M3354I;ENSP00000371735:M4104I	ENSP00000371729:M4104I	M	-	3	0	SACS	22803703	1.000000	0.71417	0.970000	0.41538	0.126000	0.20510	7.754000	0.85163	2.458000	0.83093	0.650000	0.86243	ATG	SACS	-	NULL	ENSG00000151835		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	95	0.00	0	C	NM_014363		23905703	23905703	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	86	11.34	11	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23907076	23907076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:23907076C>A	ENST00000382292.3	-	9	11212	c.10939G>T	c.(10939-10941)Gaa>Taa	p.E3647*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E3647*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E2897*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3647					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAGATAGTTCTTTCAGAAAA	0.363																																						dbGAP											0													39.0	44.0	42.0					13																	23907076		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10939G>T	13.37:g.23907076C>A	ENSP00000371729:p.Glu3647*	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E3647*	ENST00000382292.3	37	c.10939	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	58	31.325535	0.99978	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	X	3647;2897;3647	.	ENSP00000371729:E3647X	E	-	1	0	SACS	22805076	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GAA	SACS	-	NULL	ENSG00000151835		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	65	0.00	0	C	NM_014363		23907076	23907076	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	nonsense	61	10.29	7	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23907634	23907634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:23907634C>A	ENST00000382292.3	-	9	10654	c.10381G>T	c.(10381-10383)Gaa>Taa	p.E3461*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E3461*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E2711*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3461					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATATAGTTCTTTTAAGTGT	0.338																																						dbGAP											0													93.0	96.0	95.0					13																	23907634		2201	4300	6501	-	-	-	SO:0001587	stop_gained	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10381G>T	13.37:g.23907634C>A	ENSP00000371729:p.Glu3461*	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E3461*	ENST00000382292.3	37	c.10381	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	58	31.353157	0.99978	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.68	5.68	0.88126	.	0.171589	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.7891	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	X	3461;2711;3461	.	ENSP00000371729:E3461X	E	-	1	0	SACS	22805634	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.818000	0.86416	2.692000	0.91855	0.561000	0.74099	GAA	SACS	-	NULL	ENSG00000151835		0.338	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	117	0.00	0	C	NM_014363		23907634	23907634	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	nonsense	66	18.52	15	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23908825	23908825	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:23908825C>T	ENST00000382292.3	-	9	9463	c.9190G>A	c.(9190-9192)Gaa>Aaa	p.E3064K	SACS_ENST00000382298.3_Missense_Mutation_p.E3064K|SACS_ENST00000402364.1_Missense_Mutation_p.E2314K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3064					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACCAATTTCTAAAAGGAGA	0.358																																						dbGAP											0													99.0	96.0	97.0					13																	23908825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9190G>A	13.37:g.23908825C>T	ENSP00000371729:p.Glu3064Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E3064K	ENST00000382292.3	37	c.9190	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806061	0.70682	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88046	-2.19;-2.33;-2.19	5.64	5.64	0.86602	.	0.052252	0.85682	D	0.000000	T	0.71281	0.3321	N	0.08118	0	0.46725	D	0.999179	P	0.38922	0.651	B	0.27262	0.078	T	0.74362	-0.3690	10	0.07325	T	0.83	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	3064	Q9NZJ4	SACS_HUMAN	K	3064;2314;3064	ENSP00000371729:E3064K;ENSP00000385844:E2314K;ENSP00000371735:E3064K	ENSP00000371729:E3064K	E	-	1	0	SACS	22806825	1.000000	0.71417	0.929000	0.37066	0.982000	0.71751	7.487000	0.81328	2.653000	0.90120	0.555000	0.69702	GAA	SACS	-	NULL	ENSG00000151835		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	125	0.00	0	C	NM_014363		23908825	23908825	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	91	20.18	23	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23909425	23909425	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:23909425G>T	ENST00000382292.3	-	9	8863	c.8590C>A	c.(8590-8592)Ccc>Acc	p.P2864T	SACS_ENST00000382298.3_Missense_Mutation_p.P2864T|SACS_ENST00000402364.1_Missense_Mutation_p.P2114T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2864					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCCCTATGGGGTTTTTTATAG	0.443																																						dbGAP											0													60.0	64.0	63.0					13																	23909425		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8590C>A	13.37:g.23909425G>T	ENSP00000371729:p.Pro2864Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.P2864T	ENST00000382292.3	37	c.8590	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000213	0.74818	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87179	-2.08;-2.22;-2.08	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89223	0.6654	M	0.62723	1.935	0.44754	D	0.997755	P	0.52842	0.956	P	0.50570	0.644	D	0.87058	0.2151	10	0.25751	T	0.34	.	19.1639	0.93546	0.0:0.0:1.0:0.0	.	2864	Q9NZJ4	SACS_HUMAN	T	2864;2114;2864	ENSP00000371729:P2864T;ENSP00000385844:P2114T;ENSP00000371735:P2864T	ENSP00000371729:P2864T	P	-	1	0	SACS	22807425	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.509000	0.81698	2.525000	0.85131	0.555000	0.69702	CCC	SACS	-	NULL	ENSG00000151835		0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	127	0.78	1	G	NM_014363		23909425	23909425	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	38	36.67	22	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23913541	23913541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:23913541C>A	ENST00000382292.3	-	9	4747	c.4474G>T	c.(4474-4476)Gaa>Taa	p.E1492*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E1492*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E742*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1492					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E1492Q(1)|p.E1345Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACTGCATTCTGTTGCATTT	0.378																																						dbGAP											2	Substitution - Missense(2)	lung(2)											66.0	63.0	64.0					13																	23913541		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4474G>T	13.37:g.23913541C>A	ENSP00000371729:p.Glu1492*	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.E1492*	ENST00000382292.3	37	c.4474	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	55	23.439184	0.99955	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.4084	0.99013	0.0:1.0:0.0:0.0	.	.	.	.	X	1492;742;1492	.	ENSP00000371729:E1492X	E	-	1	0	SACS	22811541	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	5.710000	0.68392	2.833000	0.97629	0.650000	0.86243	GAA	SACS	-	superfamily_ATPase-like_ATP-bd	ENSG00000151835		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	66	0.00	0	C	NM_014363		23913541	23913541	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	nonsense	36	20.00	9	SNP	1.000	A
SAGE1	55511	genome.wustl.edu	37	X	134993748	134993748	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:134993748C>A	ENST00000370709.3	+	17	2157	c.2157C>A	c.(2155-2157)gtC>gtA	p.V719V	SAGE1_ENST00000537770.1_Silent_p.V343V|SAGE1_ENST00000324447.3_Silent_p.V719V|SAGE1_ENST00000535938.1_Silent_p.V719V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	719						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGCTACTGTCATTCACGATA	0.443																																						dbGAP											0													87.0	86.0	86.0					X																	134993748		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2157C>A	X.37:g.134993748C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Silent	SNP	NULL	p.V719	ENST00000370709.3	37	c.2157	CCDS14652.1	X																																																																																			SAGE1	-	NULL	ENSG00000181433		0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	77	0.00	0	C	NM_018666		134993748	134993748	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	silent	53	30.26	23	SNP	0.000	A
SAGE1	55511	genome.wustl.edu	37	X	134994097	134994097	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:134994097C>T	ENST00000370709.3	+	17	2506	c.2506C>T	c.(2506-2508)Cga>Tga	p.R836*	SAGE1_ENST00000537770.1_Nonsense_Mutation_p.R460*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R836*|SAGE1_ENST00000535938.1_Nonsense_Mutation_p.R836*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	836						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GAAAGAAGTTCGAAGGTTTGG	0.353																																						dbGAP											0													40.0	41.0	41.0					X																	134994097		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2506C>T	X.37:g.134994097C>T	ENSP00000359743:p.Arg836*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JNW0	Nonsense_Mutation	SNP	NULL	p.R836*	ENST00000370709.3	37	c.2506	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.796073	0.97845	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	.	.	.	2.86	1.97	0.26223	.	0.193551	0.45867	U	0.000323	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.542	0.33399	0.0:0.8735:0.0:0.1265	.	.	.	.	X	836;836;460;836	.	ENSP00000323191:R836X	R	+	1	2	SAGE1	134821763	0.970000	0.33590	0.355000	0.25773	0.761000	0.43186	1.830000	0.39131	0.202000	0.20498	0.179000	0.17066	CGA	SAGE1	-	NULL	ENSG00000181433		0.353	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	29	0.00	0	C	NM_018666		134994097	134994097	+1	no_errors	ENST00000324447	ensembl	human	known	69_37n	nonsense	22	29.03	9	SNP	0.993	T
SALL4	57167	genome.wustl.edu	37	20	50405503	50405503	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:50405503G>A	ENST00000217086.4	-	3	2750	c.2639C>T	c.(2638-2640)tCg>tTg	p.S880L	SALL4_ENST00000371539.3_Missense_Mutation_p.S103L|SALL4_ENST00000395997.3_Missense_Mutation_p.S443L	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	880					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTAGCAGACGAGAAGTTCTT	0.557																																						dbGAP											0													78.0	66.0	70.0					20																	50405503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2639C>T	20.37:g.50405503G>A	ENSP00000217086:p.Ser880Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S880L	ENST00000217086.4	37	c.2639	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.063532	0.93898	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.07567	3.18;3.18;3.18	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38897	N	0.001533	T	0.34366	0.0895	M	0.81942	2.565	0.80722	D	1	D;B;D	0.89917	1.0;0.291;1.0	D;B;D	0.87578	0.998;0.089;0.99	T	0.02975	-1.1087	10	0.62326	D	0.03	-19.1052	19.8907	0.96929	0.0:0.0:1.0:0.0	.	443;103;880	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	L	880;443;103	ENSP00000217086:S880L;ENSP00000379319:S443L;ENSP00000360594:S103L	ENSP00000217086:S880L	S	-	2	0	SALL4	49838910	1.000000	0.71417	0.962000	0.40283	0.641000	0.38312	9.866000	0.99616	2.706000	0.92434	0.655000	0.94253	TCG	SALL4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000101115		0.557	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	104	0.00	0	G			50405503	50405503	-1	no_errors	ENST00000217086	ensembl	human	known	69_37n	missense	82	10.87	10	SNP	1.000	A
SAMD15	161394	genome.wustl.edu	37	14	77844077	77844077	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:77844077G>A	ENST00000216471.4	+	1	602	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	106										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATACACCAAGAGGTAAAGTC	0.498																																						dbGAP											0													148.0	157.0	154.0					14																	77844077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.316G>A	14.37:g.77844077G>A	ENSP00000216471:p.Glu106Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3P3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E106K	ENST00000216471.4	37	c.316	CCDS32126.1	14	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559635	0.45590	.	.	ENSG00000100583	ENST00000216471	T	0.36340	1.26	4.36	2.5	0.30297	.	0.764959	0.10701	N	0.644060	T	0.30916	0.0780	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21348	-1.0248	10	0.39692	T	0.17	-4.2893	8.9866	0.35997	0.1925:0.0:0.8075:0.0	.	106	Q9P1V8	SAM15_HUMAN	K	106	ENSP00000216471:E106K	ENSP00000216471:E106K	E	+	1	0	SAMD15	76913830	0.013000	0.17824	0.031000	0.17742	0.239000	0.25481	1.762000	0.38451	0.840000	0.34995	-0.234000	0.12200	GAG	SAMD15	-	NULL	ENSG00000100583		0.498	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2	289	0.00	0	G	NM_001010860		77844077	77844077	+1	no_errors	ENST00000216471	ensembl	human	known	69_37n	missense	185	13.95	30	SNP	0.044	A
SAMD7	344658	genome.wustl.edu	37	3	169646334	169646334	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:169646334C>T	ENST00000428432.2	+	7	1398	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SAMD7_ENST00000335556.3_Missense_Mutation_p.R337C	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	337	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAGCTTCATTCGCAGCCTTCC	0.388																																						dbGAP											0													156.0	151.0	153.0					3																	169646334		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.1009C>T	3.37:g.169646334C>T	ENSP00000391299:p.Arg337Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R337C	ENST00000428432.2	37	c.1009	CCDS3209.1	3	.	.	.	.	.	.	.	.	.	.	A	7.548	0.662084	0.14645	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.52295	0.67;0.67	5.55	0.366	0.16136	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.675017	0.16529	N	0.210469	T	0.32010	0.0815	L	0.38733	1.17	0.09310	N	1	P	0.44344	0.833	B	0.38056	0.264	T	0.13308	-1.0514	10	0.52906	T	0.07	-0.0193	7.6665	0.28434	0.3559:0.5027:0.1413:0.0	.	337	Q7Z3H4	SAMD7_HUMAN	C	337	ENSP00000391299:R337C;ENSP00000334668:R337C	ENSP00000334668:R337C	R	+	1	0	SAMD7	171129028	0.003000	0.15002	0.001000	0.08648	0.040000	0.13550	1.555000	0.36277	-0.179000	0.10654	-0.976000	0.02587	CGC	SAMD7	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000187033		0.388	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD7	HGNC	protein_coding	OTTHUMT00000351959.1	355	0.56	2	C	NM_182610		169646334	169646334	+1	no_errors	ENST00000335556	ensembl	human	known	69_37n	missense	252	13.70	40	SNP	0.001	T
SAMD9	54809	genome.wustl.edu	37	7	92731165	92731165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:92731165G>A	ENST00000379958.2	-	3	4515	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1416						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACTTCTCGAAGCTGATCT	0.373																																						dbGAP											0													135.0	140.0	138.0					7																	92731165		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4246C>T	7.37:g.92731165G>A	ENSP00000369292:p.Arg1416*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R1416*	ENST00000379958.2	37	c.4246	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.783278	0.99263	.	.	ENSG00000205413	ENST00000379958	.	.	.	4.56	1.6	0.23607	.	0.305106	0.25994	N	0.026984	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0588	6.8438	0.23977	0.0837:0.0:0.4457:0.4706	.	.	.	.	X	1416	.	ENSP00000369292:R1416X	R	-	1	2	SAMD9	92569101	0.000000	0.05858	0.970000	0.41538	0.937000	0.57800	0.060000	0.14342	0.207000	0.20607	-0.199000	0.12753	CGA	SAMD9	-	NULL	ENSG00000205413		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	130	0.00	0	G	NM_017654		92731165	92731165	-1	no_errors	ENST00000379958	ensembl	human	known	69_37n	nonsense	114	15.56	21	SNP	0.095	A
SAMD9L	219285	genome.wustl.edu	37	7	92761792	92761792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:92761792C>A	ENST00000318238.4	-	5	4709	c.3493G>T	c.(3493-3495)Gaa>Taa	p.E1165*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E1165*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E1165*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1165					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTGGGATTCTTTGAAAGCT	0.413																																						dbGAP											0													151.0	157.0	155.0					7																	92761792		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3493G>T	7.37:g.92761792C>A	ENSP00000326247:p.Glu1165*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.E1165*	ENST00000318238.4	37	c.3493	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	47	13.690861	0.99757	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.88	1.67	0.24075	.	0.434279	0.20305	N	0.094951	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-2.8415	6.0041	0.19537	0.1529:0.6278:0.0:0.2192	.	.	.	.	X	1165	.	ENSP00000326247:E1165X	E	-	1	0	SAMD9L	92599728	0.001000	0.12720	0.861000	0.33841	0.112000	0.19704	-0.122000	0.10627	0.529000	0.28599	0.467000	0.42956	GAA	SAMD9L	-	NULL	ENSG00000177409		0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	209	0.00	0	C	NM_152703		92761792	92761792	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	nonsense	105	17.32	22	SNP	0.658	A
SAMD9L	219285	genome.wustl.edu	37	7	92764432	92764432	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:92764432G>A	ENST00000318238.4	-	5	2069	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	285					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCTCCCGAATACACTTC	0.373																																						dbGAP											0													98.0	102.0	101.0					7																	92764432		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.853C>T	7.37:g.92764432G>A	ENSP00000326247:p.Arg285Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,pfscan_SAM	p.R285W	ENST00000318238.4	37	c.853	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855515	0.51376	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.14516	2.5;2.5;2.5	4.95	1.9	0.25705	.	0.311174	0.23340	N	0.049257	T	0.13157	0.0319	M	0.61703	1.905	0.30918	N	0.728362	B	0.27910	0.193	B	0.23574	0.047	T	0.07693	-1.0759	10	0.87932	D	0	-1.83	6.2589	0.20889	0.1783:0.0:0.6242:0.1975	.	285	Q8IVG5	SAM9L_HUMAN	W	285	ENSP00000326247:R285W;ENSP00000405760:R285W;ENSP00000408796:R285W	ENSP00000326247:R285W	R	-	1	2	SAMD9L	92602368	0.639000	0.27234	1.000000	0.80357	0.893000	0.52053	0.845000	0.27668	0.685000	0.31468	-0.384000	0.06662	CGG	SAMD9L	-	NULL	ENSG00000177409		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	130	0.00	0	G	NM_152703		92764432	92764432	-1	no_errors	ENST00000318238	ensembl	human	known	69_37n	missense	56	16.42	11	SNP	0.999	A
SAP18	10284	genome.wustl.edu	37	13	21715082	21715082	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:21715082G>T	ENST00000607003.1	+	2	162	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	RN7SL80P_ENST00000580631.1_RNA|SAP18_ENST00000485646.1_3'UTR|SAP18_ENST00000382533.4_Missense_Mutation_p.D63Y|SNORD27_ENST00000516319.1_RNA			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	44					mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCACCGAATGGACGAGTTCTC	0.587																																						dbGAP											0													109.0	105.0	106.0					13																	21715082		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.130G>T	13.37:g.21715082G>T	ENSP00000475925:p.Asp44Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	pfam_SAP18	p.D63Y	ENST00000607003.1	37	c.187		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.318299|4.318299	0.81469|0.81469	.|.	.|.	ENSG00000150459|ENSG00000150459	ENST00000382533|ENST00000450573	.|.	.|.	.|.	4.67|4.67	3.81|3.81	0.43845|0.43845	.|.	0.087572|.	0.85682|.	D|.	0.000000|.	T|T	0.75539|0.75539	0.3863|0.3863	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	P|.	0.47409|.	0.895|.	P|.	0.50570|.	0.644|.	T|T	0.77560|0.77560	-0.2542|-0.2542	9|5	0.87932|.	D|.	0|.	-29.2791|-29.2791	14.9386|14.9386	0.70975|0.70975	0.0:0.1441:0.8559:0.0|0.0:0.1441:0.8559:0.0	.|.	44|.	O00422|.	SAP18_HUMAN|.	Y|V	63|57	.|.	ENSP00000371973:D63Y|.	D|G	+|+	1|2	0|0	SAP18|SAP18	20613082|20613082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	7.506000|7.506000	0.81665|0.81665	1.073000|1.073000	0.40885|0.40885	-0.479000|-0.479000	0.04858|0.04858	GAC|GGA	SAP18	-	pfam_SAP18	ENSG00000150459		0.587	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	SAP18	HGNC	protein_coding	OTTHUMT00000470725.1	105	0.00	0	G	NM_005870		21715082	21715082	+1	no_errors	ENST00000382533	ensembl	human	novel	69_37n	missense	60	18.67	14	SNP	1.000	T
SART3	9733	genome.wustl.edu	37	12	108924988	108924988	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:108924988C>A	ENST00000228284.3	-	14	1973	c.1739G>T	c.(1738-1740)aGa>aTa	p.R580I	SART3_ENST00000431469.2_Missense_Mutation_p.R544I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	580					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TACCTTCATTCTCTGCTCATT	0.383									Porokeratosis																													dbGAP											0													154.0	137.0	143.0					12																	108924988		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1739G>T	12.37:g.108924988C>A	ENSP00000228284:p.Arg580Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.R580I	ENST00000228284.3	37	c.1739	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.345324	0.95807	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.35048	1.33;1.33;1.33	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.996;0.994;0.999	T	0.63853	-0.6543	10	0.72032	D	0.01	-24.6239	20.6721	0.99693	0.0:1.0:0.0:0.0	.	528;598;544;580	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	I	580;544;156;528;598	ENSP00000228284:R580I;ENSP00000414453:R544I;ENSP00000449386:R598I	ENSP00000228284:R580I	R	-	2	0	SART3	107449118	1.000000	0.71417	0.981000	0.43875	0.796000	0.44982	6.806000	0.75195	2.894000	0.99253	0.591000	0.81541	AGA	SART3	-	NULL	ENSG00000075856		0.383	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	294	0.00	0	C			108924988	108924988	-1	no_errors	ENST00000228284	ensembl	human	known	69_37n	missense	261	18.69	60	SNP	1.000	A
SASH1	23328	genome.wustl.edu	37	6	148855021	148855021	+	Missense_Mutation	SNP	G	G	A	rs587781245		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:148855021G>A	ENST00000367467.3	+	15	2324	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	617					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGTGAAGACGAGGAGAAACC	0.552																																						dbGAP											0													102.0	93.0	96.0					6																	148855021		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1849G>A	6.37:g.148855021G>A	ENSP00000356437:p.Glu617Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E617K	ENST00000367467.3	37	c.1849	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334375	0.60853	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.31247	1.5	5.09	5.09	0.68999	Src homology-3 domain (1);	0.088701	0.85682	D	0.000000	T	0.20536	0.0494	M	0.73217	2.22	0.46113	D	0.998876	P;P	0.42993	0.618;0.797	B;B	0.28011	0.036;0.085	T	0.26292	-1.0107	10	0.54805	T	0.06	-18.5307	18.8564	0.92254	0.0:0.0:1.0:0.0	.	598;617	Q6P4R9;O94885	.;SASH1_HUMAN	K	617;378;27	ENSP00000356437:E617K	ENSP00000356437:E617K	E	+	1	0	SASH1	148896714	1.000000	0.71417	0.858000	0.33744	0.237000	0.25408	9.813000	0.99286	2.512000	0.84698	0.655000	0.94253	GAG	SASH1	-	superfamily_SH3_domain	ENSG00000111961		0.552	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	158	0.00	0	G	NM_015278		148855021	148855021	+1	no_errors	ENST00000367467	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	0.999	A
SATB1	6304	genome.wustl.edu	37	3	18436217	18436217	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:18436217G>T	ENST00000338745.6	-	7	2677	c.943C>A	c.(943-945)Caa>Aaa	p.Q315K	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'Flank|SATB1_ENST00000454909.2_Missense_Mutation_p.Q315K|SATB1_ENST00000417717.2_Missense_Mutation_p.Q315K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	315					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTGACCAATTGAGGACTGATA	0.542																																						dbGAP											0													149.0	139.0	143.0					3																	18436217		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.943C>A	3.37:g.18436217G>T	ENSP00000341024:p.Gln315Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q315K	ENST00000338745.6	37	c.943	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778471	0.90195	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.51325	0.71;0.71;0.71	5.75	5.75	0.90469	.	0.110979	0.64402	D	0.000007	T	0.67373	0.2886	L	0.56769	1.78	0.80722	D	1	D;P	0.76494	0.999;0.908	D;P	0.83275	0.996;0.596	T	0.63980	-0.6514	10	0.44086	T	0.13	-18.294	19.9522	0.97203	0.0:0.0:1.0:0.0	.	315;315	Q01826-2;Q01826	.;SATB1_HUMAN	K	315	ENSP00000341024:Q315K;ENSP00000399708:Q315K;ENSP00000399518:Q315K	ENSP00000341024:Q315K	Q	-	1	0	SATB1	18411221	1.000000	0.71417	0.993000	0.49108	0.723000	0.41478	9.865000	0.99609	2.725000	0.93324	0.655000	0.94253	CAA	SATB1	-	NULL	ENSG00000182568		0.542	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	267	0.00	0	G	NM_001131010		18436217	18436217	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	209	18.04	46	SNP	1.000	T
SBF2	81846	genome.wustl.edu	37	11	9809272	9809272	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:9809272A>G	ENST00000256190.8	-	36	5083	c.4946T>C	c.(4945-4947)tTg>tCg	p.L1649S	SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1649	Interaction with MTMR2.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTGTGCTCCAATTTTTCAAT	0.453																																						dbGAP											0													104.0	98.0	100.0					11																	9809272		2201	4294	6495	-	-	-	SO:0001583	missense	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4946T>C	11.37:g.9809272A>G	ENSP00000256190:p.Leu1649Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.L1649S	ENST00000256190.8	37	c.4946	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	A	23.6	4.440271	0.83993	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	T	0.11604	2.76	6.03	6.03	0.97812	.	0.075233	0.56097	D	0.000022	T	0.37046	0.0989	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.15549	-1.0433	10	0.72032	D	0.01	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	1649	Q86WG5	MTMRD_HUMAN	S	1649;37	ENSP00000256190:L1649S	ENSP00000256190:L1649S	L	-	2	0	SBF2	9765848	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	8.875000	0.92372	2.302000	0.77476	0.533000	0.62120	TTG	SBF2	-	NULL	ENSG00000133812		0.453	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	314	0.00	0	A	NM_030962		9809272	9809272	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	missense	138	31.86	65	SNP	1.000	G
SBF2	81846	genome.wustl.edu	37	11	9864205	9864205	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:9864205G>A	ENST00000256190.8	-	25	3360	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	RNU7-28P_ENST00000516759.1_RNA|RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1075					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1075S(1)|p.R1075C(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATCCAGGACGATTTACTCTT	0.363																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											162.0	140.0	147.0					11																	9864205		2200	4294	6494	-	-	-	SO:0001583	missense	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3223C>T	11.37:g.9864205G>A	ENSP00000256190:p.Arg1075Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R1075C	ENST00000256190.8	37	c.3223	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035953	0.75617	.	.	ENSG00000133812	ENST00000256190	D	0.85955	-2.05	5.48	5.48	0.80851	.	0.048793	0.85682	D	0.000000	D	0.88768	0.6526	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	D	0.89046	0.3452	10	0.56958	D	0.05	.	19.3452	0.94359	0.0:0.0:1.0:0.0	.	1075	Q86WG5	MTMRD_HUMAN	C	1075	ENSP00000256190:R1075C	ENSP00000256190:R1075C	R	-	1	0	SBF2	9820781	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.787000	0.62432	2.579000	0.87056	0.585000	0.79938	CGT	SBF2	-	NULL	ENSG00000133812		0.363	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	221	0.45	1	G	NM_030962		9864205	9864205	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	missense	174	10.77	21	SNP	1.000	A
SCAF11	9169	genome.wustl.edu	37	12	46321650	46321650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:46321650C>A	ENST00000369367.3	-	11	2067	c.1834G>T	c.(1834-1836)Gaa>Taa	p.E612*	SCAF11_ENST00000549162.1_Nonsense_Mutation_p.E420*|SCAF11_ENST00000465950.1_Nonsense_Mutation_p.E297*|SCAF11_ENST00000419565.2_Nonsense_Mutation_p.E612*	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	612					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCAGAAGATTCTAACTTGGGG	0.368																																						dbGAP											0													59.0	62.0	61.0					12																	46321650		2186	4294	6480	-	-	-	SO:0001587	stop_gained	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1834G>T	12.37:g.46321650C>A	ENSP00000358374:p.Glu612*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEU9|A6NLW5|Q8IW59	Nonsense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E612*	ENST00000369367.3	37	c.1834	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821627	0.90873	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	.	.	.	5.85	4.02	0.46733	.	0.393840	0.24438	N	0.038534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-5.2506	14.1528	0.65398	0.0:0.8135:0.0:0.1865	.	.	.	.	X	297;612;420;612;552	.	ENSP00000358374:E612X	E	-	1	0	SCAF11	44607917	0.024000	0.19004	0.067000	0.19924	0.010000	0.07245	0.464000	0.21988	0.404000	0.25506	-1.119000	0.02030	GAA	SCAF11	-	NULL	ENSG00000139218		0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	160	0.00	0	C	NM_004719		46321650	46321650	-1	no_errors	ENST00000369367	ensembl	human	known	69_37n	nonsense	111	15.91	21	SNP	0.078	A
SBNO1	55206	genome.wustl.edu	37	12	123813290	123813290	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:123813290G>A	ENST00000602398.1	-	10	1414	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	SBNO1_ENST00000267176.4_Silent_p.F428F|SBNO1_ENST00000602750.1_Silent_p.F428F|SBNO1_ENST00000420886.2_Silent_p.F429F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	429					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCACTCCATCGAAGTCATCAC	0.353																																						dbGAP											0													159.0	150.0	153.0					12																	123813290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1287C>T	12.37:g.123813290G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.F429	ENST00000602398.1	37	c.1287	CCDS53844.1	12																																																																																			SBNO1	-	pfam_Helicase/UvrB_dom	ENSG00000139697		0.353	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	413	0.00	0	G	NM_018183		123813290	123813290	-1	no_errors	ENST00000420886	ensembl	human	known	69_37n	silent	276	26.65	101	SNP	0.998	A
SCAF4	57466	genome.wustl.edu	37	21	33066596	33066596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33066596C>A	ENST00000286835.7	-	11	1625	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.E400*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.E415*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	415						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGTTCTACTTCCATTTCCTTA	0.294																																						dbGAP											0													64.0	60.0	61.0					21																	33066596		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1243G>T	21.37:g.33066596C>A	ENSP00000286835:p.Glu415*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.E415*	ENST00000286835.7	37	c.1243	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	42	9.651612	0.99230	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	.	.	.	6.17	5.29	0.74685	.	0.335669	0.33419	N	0.004937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-17.3389	15.5968	0.76590	0.0:0.9345:0.0:0.0655	.	.	.	.	X	400;415;415	.	ENSP00000286835:E415X	E	-	1	0	SCAF4	31988467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.693000	0.61753	1.627000	0.50400	0.655000	0.94253	GAA	SCAF4	-	NULL	ENSG00000156304		0.294	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	144	0.00	0	C	XM_047889		33066596	33066596	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	nonsense	86	22.52	25	SNP	1.000	A
SCAF4	57466	genome.wustl.edu	37	21	33076138	33076138	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33076138T>G	ENST00000286835.7	-	4	643	c.261A>C	c.(259-261)agA>agC	p.R87S	SCAF4_ENST00000434667.3_Missense_Mutation_p.R72S|SCAF4_ENST00000399804.1_Missense_Mutation_p.R87S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	87	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTTTAGAGAATCTTGGCCCAA	0.313																																						dbGAP											0													76.0	76.0	76.0					21																	33076138		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.261A>C	21.37:g.33076138T>G	ENSP00000286835:p.Arg87Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.R87S	ENST00000286835.7	37	c.261	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113422	0.56398	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.41400	1.0;1.0;1.0	5.83	4.69	0.59074	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	M	0.89287	3.02	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	T	0.71787	-0.4487	10	0.72032	D	0.01	-18.0527	10.4019	0.44235	0.0:0.1351:0.0:0.8649	.	72;87;87;87	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	72;87;87	ENSP00000402377:R72S;ENSP00000286835:R87S;ENSP00000382703:R87S	ENSP00000286835:R87S	R	-	3	2	SCAF4	31998009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.634000	0.37123	1.041000	0.40125	0.533000	0.62120	AGA	SCAF4	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	ENSG00000156304		0.313	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	276	0.00	0	T	XM_047889		33076138	33076138	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	missense	150	28.57	60	SNP	1.000	G
SCAF8	22828	genome.wustl.edu	37	6	155129920	155129920	+	Missense_Mutation	SNP	G	G	A	rs200535713		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:155129920G>A	ENST00000367178.3	+	11	1790	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	SCAF8_ENST00000367186.4_Missense_Mutation_p.R471Q|SCAF8_ENST00000417268.1_Missense_Mutation_p.R405Q	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	405	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACACATTCACGATCTCGTTCA	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16282	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													97.0	95.0	96.0					6																	155129920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1214G>A	6.37:g.155129920G>A	ENSP00000356146:p.Arg405Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.R471Q	ENST00000367178.3	37	c.1412	CCDS5247.1	6	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.5	4.002849	0.74932	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.16743	2.32;2.32;2.32	5.97	5.11	0.69529	.	0.063410	0.64402	U	0.000012	T	0.09555	0.0235	M	0.61703	1.905	0.53688	D	0.999976	B;B;B;B	0.20052	0.041;0.041;0.016;0.004	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.03086	-1.1074	10	0.51188	T	0.08	.	11.4307	0.50038	0.1378:0.0:0.8622:0.0	.	450;471;483;405	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	Q	405;405;471	ENSP00000356146:R405Q;ENSP00000413098:R405Q;ENSP00000356154:R471Q	ENSP00000356146:R405Q	R	+	2	0	SCAF8	155171612	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.168000	0.71908	1.536000	0.49237	0.655000	0.94253	CGA	SCAF8	-	NULL	ENSG00000213079		0.388	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	441	0.00	0	G	NM_014892		155129920	155129920	+1	no_errors	ENST00000367186	ensembl	human	known	69_37n	missense	290	26.63	106	SNP	1.000	A
SCAPER	49855	genome.wustl.edu	37	15	77092604	77092604	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:77092604C>T	ENST00000563290.1	-	7	691	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R199Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	199						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTAAGCTTCGTCGAGCATT	0.338																																						dbGAP											0													113.0	99.0	103.0					15																	77092604		1809	4081	5890	-	-	-	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.596G>A	15.37:g.77092604C>T	ENSP00000454973:p.Arg199Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.R199Q	ENST00000563290.1	37	c.596	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.354412	0.95830	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.32753	1.44	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.38531	1.155	0.51233	D	0.999912	D;D	0.89917	1.0;0.972	D;P	0.74023	0.982;0.66	T	0.49437	-0.8940	10	0.72032	D	0.01	.	18.4362	0.90646	0.0:1.0:0.0:0.0	.	199;214	Q6NSF1;Q9BY12-2	.;.	Q	199;215	ENSP00000326924:R199Q	ENSP00000303560:R215Q	R	-	2	0	SCAPER	74879659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.439000	0.80444	2.332000	0.79248	0.650000	0.86243	CGA	SCAPER	-	NULL	ENSG00000140386		0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	287	0.00	0	C	NM_020843		77092604	77092604	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	missense	177	14.49	30	SNP	1.000	T
SCAPER	49855	genome.wustl.edu	37	15	77096879	77096879	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:77096879T>C	ENST00000563290.1	-	6	584	c.489A>G	c.(487-489)caA>caG	p.Q163Q	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Silent_p.Q163Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	163						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTACCTGCTTTGAGCATCTG	0.388																																						dbGAP											0													120.0	111.0	114.0					15																	77096879		1864	4095	5959	-	-	-	SO:0001819	synonymous_variant	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.489A>G	15.37:g.77096879T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	smart_Znf_U1	p.Q163	ENST00000563290.1	37	c.489	CCDS53962.1	15																																																																																			SCAPER	-	NULL	ENSG00000140386		0.388	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	285	0.00	0	T	NM_020843		77096879	77096879	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	silent	202	22.61	59	SNP	1.000	C
SCAND2P	54581	genome.wustl.edu	37	15	85177952	85177952	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:85177952G>A	ENST00000527801.1	-	0	0				SCAND2P_ENST00000348993.5_RNA																							TTGTGAATACGAATAAATGGG	0.358																																						dbGAP											0																																										-	-	-			0																															15.37:g.85177952G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000527801.1	37	NULL		15																																																																																			SCAND2	-	-	ENSG00000176700		0.358	RP11-182J1.1-001	KNOWN	basic|exp_conf	antisense	SCAND2	HGNC	antisense	OTTHUMT00000390220.1	81	0.00	0	G			85177952	85177952	+1	no_errors	ENST00000427525	ensembl	human	known	69_37n	rna	66	14.29	11	SNP	0.983	A
SCARA5	286133	genome.wustl.edu	37	8	27767262	27767262	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:27767262T>C	ENST00000354914.3	-	5	1402		c.e5-2		SCARA5_ENST00000524352.1_Splice_Site|SCARA5_ENST00000380385.2_Splice_Site|SCARA5_ENST00000518030.1_Splice_Site|SCARA5_ENST00000301906.4_Splice_Site|RP11-597M17.1_ENST00000517735.1_RNA	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5						cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCGGTGGCCCTGGAAAGGCAA	0.572																																						dbGAP											0													64.0	43.0	50.0					8																	27767262		2068	3984	6052	-	-	-	SO:0001630	splice_region_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.917-2A>G	8.37:g.27767262T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXZ1|Q7Z4A1|Q8N4Z7	Splice_Site	SNP	-	e4-2	ENST00000354914.3	37	c.917-2	CCDS6064.1	8	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024256	0.54683	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1308	0.48345	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCARA5	27823181	1.000000	0.71417	0.939000	0.37840	0.800000	0.45204	4.098000	0.57748	1.937000	0.56155	0.459000	0.35465	.	SCARA5	-	-	ENSG00000168079		0.572	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	107	0.93	1	T	NM_173833	Intron	27767262	27767262	-1	no_errors	ENST00000354914	ensembl	human	known	69_37n	splice_site	67	36.79	39	SNP	0.993	C
SCD5	79966	genome.wustl.edu	37	4	83601945	83601945	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:83601945G>A	ENST00000319540.4	-	3	803	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	SCD5_ENST00000273908.4_Missense_Mutation_p.R162C	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	162					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGATGCTTGCGAACAAACAGC	0.547																																						dbGAP											0													115.0	116.0	116.0					4																	83601945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.484C>T	4.37:g.83601945G>A	ENSP00000316329:p.Arg162Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R162C	ENST00000319540.4	37	c.484	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305453	0.81247	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.14516	2.5;2.5	5.27	4.43	0.53597	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.66638	-0.5873	10	0.87932	D	0	-10.4342	14.3888	0.66963	0.0717:0.0:0.9283:0.0	.	162;162	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	C	162	ENSP00000316329:R162C;ENSP00000273908:R162C	ENSP00000273908:R162C	R	-	1	0	SCD5	83820969	1.000000	0.71417	0.955000	0.39395	0.764000	0.43329	6.519000	0.73768	1.435000	0.47434	0.467000	0.42956	CGC	SCD5	-	pfam_Fatty_acid_desaturase-1	ENSG00000145284		0.547	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	158	0.63	1	G	NM_024906		83601945	83601945	-1	no_errors	ENST00000319540	ensembl	human	known	69_37n	missense	107	11.57	14	SNP	1.000	A
SCEL	8796	genome.wustl.edu	37	13	78176802	78176802	+	Missense_Mutation	SNP	G	G	A	rs201091090		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:78176802G>A	ENST00000349847.3	+	17	1075	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000535157.1_Missense_Mutation_p.E309K|SCEL_ENST00000377246.3_Missense_Mutation_p.E311K|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000469982.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	331	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAAATCTCGAATCTGTTGC	0.338																																						dbGAP											0													131.0	139.0	136.0					13																	78176802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.991G>A	13.37:g.78176802G>A	ENSP00000302579:p.Glu331Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.E331K	ENST00000349847.3	37	c.991	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157438	0.38119	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.22945	1.93;1.93;1.93	3.93	-0.388	0.12459	.	1.173860	0.06318	N	0.703949	T	0.13628	0.0330	N	0.16307	0.4	0.09310	N	1	B;B;B	0.19583	0.03;0.03;0.037	B;B;B	0.13407	0.007;0.007;0.009	T	0.29822	-0.9999	10	0.27785	T	0.31	-0.7196	3.6653	0.08253	0.3886:0.1889:0.4224:0.0	.	309;311;331	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	K	309;311;331	ENSP00000437895:E309K;ENSP00000366454:E311K;ENSP00000302579:E331K	ENSP00000302579:E331K	E	+	1	0	SCEL	77074803	0.005000	0.15991	0.000000	0.03702	0.586000	0.36452	0.181000	0.16880	-0.231000	0.09825	0.655000	0.94253	GAA	SCEL	-	NULL	ENSG00000136155		0.338	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	394	0.00	0	G	NM_144777		78176802	78176802	+1	no_errors	ENST00000349847	ensembl	human	known	69_37n	missense	259	11.60	34	SNP	0.000	A
SCFD1	23256	genome.wustl.edu	37	14	31107337	31107337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31107337C>T	ENST00000458591.2	+	5	546	c.319C>T	c.(319-321)Cga>Tga	p.R107*	SCFD1_ENST00000544052.2_Nonsense_Mutation_p.R40*|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.R48*|SCFD1_ENST00000396629.2_Nonsense_Mutation_p.R15*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	107					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATAGGATCTTCGAAATCAACT	0.279																																						dbGAP											0													25.0	28.0	27.0					14																	31107337		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.319C>T	14.37:g.31107337C>T	ENSP00000390783:p.Arg107*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Nonsense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R107*	ENST00000458591.2	37	c.319	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.407350	0.97542	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000557076;ENST00000396629	.	.	.	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-16.5801	9.1289	0.36833	0.1436:0.782:0.0:0.0743	.	.	.	.	X	107;40;48;82;15	.	ENSP00000309417:R115X	R	+	1	2	SCFD1	30177088	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.676000	0.37565	2.706000	0.92434	0.655000	0.94253	CGA	SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.279	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	118	0.00	0	C	NM_182835		31107337	31107337	+1	no_errors	ENST00000458591	ensembl	human	known	69_37n	nonsense	64	34.69	34	SNP	1.000	T
SCG3	29106	genome.wustl.edu	37	15	51975585	51975585	+	Silent	SNP	C	C	T	rs2305709	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:51975585C>T	ENST00000220478.3	+	4	754	c.351C>T	c.(349-351)atC>atT	p.I117I	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	117					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAAAACTGATCGATGATTATG	0.323																																						dbGAP											0													111.0	118.0	115.0					15																	51975585		2195	4293	6488	-	-	-	SO:0001819	synonymous_variant	0			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.351C>T	15.37:g.51975585C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	NULL	p.I117	ENST00000220478.3	37	c.351	CCDS10142.1	15																																																																																			SCG3	-	NULL	ENSG00000104112		0.323	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG3	HGNC	protein_coding	OTTHUMT00000254670.2	170	0.00	0	C	NM_013243		51975585	51975585	+1	no_errors	ENST00000220478	ensembl	human	known	69_37n	silent	114	33.91	59	SNP	0.002	T
SCGB3A2	117156	genome.wustl.edu	37	5	147261087	147261087	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:147261087T>G	ENST00000296694.4	+	2	227	c.134T>G	c.(133-135)tTt>tGt	p.F45C	SCGB3A2_ENST00000504320.1_5'UTR|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	45						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTTCCCTTTATGGATCCA	0.473																																						dbGAP											0													175.0	174.0	174.0					5																	147261087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.134T>G	5.37:g.147261087T>G	ENSP00000296694:p.Phe45Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam	p.F45C	ENST00000296694.4	37	c.134	CCDS4287.1	5	.	.	.	.	.	.	.	.	.	.	T	12.63	1.996874	0.35226	.	.	ENSG00000164265	ENST00000296694	.	.	.	5.5	1.7	0.24286	.	1.605010	0.02903	N	0.135665	T	0.47432	0.1445	.	.	.	0.09310	N	1	P	0.46020	0.871	P	0.50791	0.65	T	0.24941	-1.0146	8	0.38643	T	0.18	0.1482	7.2781	0.26296	0.0:0.2619:0.0:0.7381	.	45	Q96PL1	SG3A2_HUMAN	C	45	.	ENSP00000296694:F45C	F	+	2	0	SCGB3A2	147241280	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.545000	0.23268	0.119000	0.18210	0.454000	0.30748	TTT	SCGB3A2	-	pfam_Uteroglobin-like_superfam	ENSG00000164265		0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB3A2	HGNC	protein_coding	OTTHUMT00000251939.1	656	0.00	0	T	NM_054023		147261087	147261087	+1	no_errors	ENST00000296694	ensembl	human	known	69_37n	missense	406	27.11	151	SNP	0.000	G
SCIN	85477	genome.wustl.edu	37	7	12666272	12666272	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:12666272G>T	ENST00000297029.5	+	8	1146	c.1045G>T	c.(1045-1047)Gat>Tat	p.D349Y	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Missense_Mutation_p.D102Y|SCIN_ENST00000445618.2_Missense_Mutation_p.D102Y	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	349	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGACTGGAGAGATAAAGATCA	0.343																																						dbGAP											0													49.0	45.0	47.0					7																	12666272		1828	4070	5898	-	-	-	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1045G>T	7.37:g.12666272G>T	ENSP00000297029:p.Asp349Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.D349Y	ENST00000297029.5	37	c.1045	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703136	0.88924	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.33865	1.39;1.39;1.39	5.94	5.94	0.96194	.	0.325841	0.35615	N	0.003093	T	0.63390	0.2507	M	0.86178	2.8	0.80722	D	1	D	0.61080	0.989	P	0.58721	0.844	T	0.67277	-0.5711	10	0.72032	D	0.01	-14.2858	20.3594	0.98849	0.0:0.0:1.0:0.0	.	349	Q9Y6U3	ADSV_HUMAN	Y	349;102;102	ENSP00000297029:D349Y;ENSP00000430997:D102Y;ENSP00000390189:D102Y	ENSP00000297029:D349Y	D	+	1	0	SCIN	12632797	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.476000	0.97823	2.816000	0.96949	0.563000	0.77884	GAT	SCIN	-	NULL	ENSG00000006747		0.343	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	203	0.49	1	G	NM_033128		12666272	12666272	+1	no_errors	ENST00000297029	ensembl	human	known	69_37n	missense	93	23.77	29	SNP	1.000	T
SCLT1	132320	genome.wustl.edu	37	4	129913344	129913344	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:129913344C>T	ENST00000281142.5	-	9	1167	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Missense_Mutation_p.E222K|SCLT1_ENST00000503215.1_Missense_Mutation_p.E199K	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	222					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CGGAGTTGTTCGATTATCACA	0.294																																						dbGAP											0													64.0	60.0	61.0					4																	129913344		2199	4295	6494	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.664G>A	4.37:g.129913344C>T	ENSP00000281142:p.Glu222Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E222K	ENST00000281142.5	37	c.664	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421676	0.43020	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.08720	3.06;3.06;3.06	4.94	4.07	0.47477	.	0.051980	0.85682	D	0.000000	T	0.26122	0.0637	M	0.68952	2.095	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.00995	-1.1487	9	.	.	.	-8.6908	14.3334	0.66572	0.0:0.8502:0.1498:0.0	.	222;222	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	K	222;222;199	ENSP00000281142:E222K;ENSP00000401539:E222K;ENSP00000424029:E199K	.	E	-	1	0	SCLT1	130132794	0.994000	0.37717	0.661000	0.29709	0.084000	0.17831	4.215000	0.58534	1.163000	0.42636	0.650000	0.86243	GAA	SCLT1	-	NULL	ENSG00000151466		0.294	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	290	0.00	0	C	NM_144643		129913344	129913344	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	165	10.81	20	SNP	0.975	T
SCMH1	22955	genome.wustl.edu	37	1	41499667	41499667	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:41499667T>G	ENST00000326197.7	-	13	2001	c.1702A>C	c.(1702-1704)Aat>Cat	p.N568H	SCMH1_ENST00000337495.5_Intron|SCMH1_ENST00000372595.1_Missense_Mutation_p.N507H|SCMH1_ENST00000402904.2_Missense_Mutation_p.N568H|SCMH1_ENST00000372596.1_Intron|SCMH1_ENST00000361705.3_Intron|SCMH1_ENST00000397171.2_Intron|SCMH1_ENST00000397174.2_Intron|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361191.5_Intron|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000372597.1_Intron					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ggggaacgatttagtttccaa	0.448																																						dbGAP											0													145.0	132.0	136.0					1																	41499667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1702A>C	1.37:g.41499667T>G	ENSP00000318094:p.Asn568His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.N568H	ENST00000326197.7	37	c.1702	CCDS30688.1	1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.456121	0.26161	.	.	ENSG00000010803	ENST00000402904;ENST00000372595;ENST00000326197	T;T;T	0.19105	2.17;2.18;2.17	2.37	2.37	0.29283	.	2.733100	0.01459	N	0.015816	T	0.14227	0.0344	N	0.14661	0.345	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	T	0.28554	-1.0040	10	0.31617	T	0.26	.	6.6574	0.22994	0.0:0.0:0.0:1.0	.	568	Q96GD3	SCMH1_HUMAN	H	568;507;568	ENSP00000386079:N568H;ENSP00000361676:N507H;ENSP00000318094:N568H	ENSP00000318094:N568H	N	-	1	0	SCMH1	41272254	0.730000	0.28100	0.939000	0.37840	0.797000	0.45037	2.105000	0.41825	1.349000	0.45751	0.379000	0.24179	AAT	SCMH1	-	NULL	ENSG00000010803		0.448	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SCMH1	HGNC	protein_coding	OTTHUMT00000015656.1	543	0.00	0	T			41499667	41499667	-1	no_errors	ENST00000326197	ensembl	human	known	69_37n	missense	518	28.25	204	SNP	0.962	G
SCML1	6322	genome.wustl.edu	37	X	17768339	17768339	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:17768339G>T	ENST00000380041.3	+	6	957	c.629G>T	c.(628-630)tGc>tTc	p.C210F	SCML1_ENST00000398080.1_Missense_Mutation_p.C89F|SCML1_ENST00000380043.3_Missense_Mutation_p.C183F|SCML1_ENST00000380045.3_Missense_Mutation_p.C89F	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	210					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TCAGGGCTCTGCCTTGGCAAC	0.532																																						dbGAP											0													112.0	87.0	95.0					X																	17768339		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.629G>T	X.37:g.17768339G>T	ENSP00000369380:p.Cys210Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.C210F	ENST00000380041.3	37	c.629	CCDS35210.1	X	.	.	.	.	.	.	.	.	.	.	G	3.589	-0.084074	0.07097	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	2.98	-1.1	0.09872	.	0.607114	0.14385	N	0.322896	T	0.14960	0.0361	L	0.27053	0.805	0.09310	N	1	B;B	0.28291	0.206;0.131	B;B	0.23275	0.045;0.02	T	0.20739	-1.0266	9	0.09843	T	0.71	-4.233	0.4279	0.00467	0.264:0.1945:0.3407:0.2008	.	183;210	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	F	89;210;183;89	.	ENSP00000369380:C210F	C	+	2	0	SCML1	17678260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.154000	0.10130	-0.431000	0.07307	-1.380000	0.01176	TGC	SCML1	-	NULL	ENSG00000047634		0.532	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	132	0.00	0	G	NM_006746		17768339	17768339	+1	no_errors	ENST00000380041	ensembl	human	known	69_37n	missense	67	16.87	14	SNP	0.000	T
SCML2	10389	genome.wustl.edu	37	X	18264849	18264849	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:18264849G>A	ENST00000251900.4	-	13	1829	c.1670C>T	c.(1669-1671)cCt>cTt	p.P557L	SCML2_ENST00000398048.3_Missense_Mutation_p.P293L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	557					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCTACAGGCAGGATTCAAATA	0.428																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0													87.0	90.0	89.0					X																	18264849		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1670C>T	X.37:g.18264849G>A	ENSP00000251900:p.Pro557Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.P557L	ENST00000251900.4	37	c.1670	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167589	0.57476	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.73789	2.05;-0.78	5.84	4.98	0.66077	.	3.781100	0.00496	N	0.000151	D	0.84929	0.5581	M	0.68952	2.095	0.25091	N	0.99086	B;B;P;D	0.65815	0.264;0.383;0.8;0.995	B;B;B;P	0.57960	0.054;0.116;0.177;0.83	T	0.63941	-0.6523	10	0.49607	T	0.09	.	12.4169	0.55498	0.0794:0.0:0.9206:0.0	.	525;72;293;557	B4DZR9;Q5JXE7;B4DRC2;Q9UQR0	.;.;.;SCML2_HUMAN	L	557;293;525	ENSP00000251900:P557L;ENSP00000381126:P293L	ENSP00000251900:P557L	P	-	2	0	SCML2	18174770	0.870000	0.30015	0.009000	0.14445	0.027000	0.11550	3.494000	0.53273	1.221000	0.43506	-0.192000	0.12808	CCT	SCML2	-	NULL	ENSG00000102098		0.428	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	169	0.00	0	G	NM_006089		18264849	18264849	-1	no_errors	ENST00000251900	ensembl	human	known	69_37n	missense	148	10.24	17	SNP	0.031	A
SCML4	256380	genome.wustl.edu	37	6	108070954	108070954	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:108070954C>T	ENST00000369020.3	-	3	465	c.220G>A	c.(220-222)Gac>Aac	p.D74N	SCML4_ENST00000369022.2_Missense_Mutation_p.D16N|SCML4_ENST00000369021.3_Missense_Mutation_p.D45N	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GAGCTGAGGTCGGGCTCTGGG	0.592																																						dbGAP											0													75.0	79.0	78.0					6																	108070954		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.220G>A	6.37:g.108070954C>T	ENSP00000358016:p.Asp74Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.D45N	ENST00000369020.3	37	c.133	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940611	0.73557	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.57273	0.63;0.73;0.41;0.59	5.15	4.29	0.51040	.	0.512331	0.20539	N	0.090343	T	0.61337	0.2339	M	0.68952	2.095	0.58432	D	0.999994	P;D;D	0.89917	0.696;0.976;1.0	B;P;D	0.85130	0.075;0.457;0.997	T	0.64283	-0.6444	10	0.49607	T	0.09	.	13.6592	0.62357	0.0:0.925:0.0:0.075	.	74;74;45	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	N	16;74;45;45	ENSP00000358018:D16N;ENSP00000358016:D74N;ENSP00000358017:D45N;ENSP00000404688:D45N	ENSP00000358016:D74N	D	-	1	0	SCML4	108177647	1.000000	0.71417	0.991000	0.47740	0.433000	0.31745	5.708000	0.68377	1.149000	0.42402	-0.140000	0.14226	GAC	SCML4	-	NULL	ENSG00000146285		0.592	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3	318	0.00	0	C	XM_171128		108070954	108070954	-1	no_errors	ENST00000369021	ensembl	human	known	69_37n	missense	234	27.69	90	SNP	0.999	T
SCN10A	6336	genome.wustl.edu	37	3	38797326	38797326	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:38797326C>A	ENST00000449082.2	-	10	1413	c.1414G>T	c.(1414-1416)Gaa>Taa	p.E472*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	472					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTGTTGTCTTCTGTGGAGCCC	0.493																																						dbGAP											0													315.0	263.0	280.0					3																	38797326		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1414G>T	3.37:g.38797326C>A	ENSP00000390600:p.Glu472*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.E472*	ENST00000449082.2	37	c.1414	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764746	0.90020	.	.	ENSG00000185313	ENST00000449082	.	.	.	5.77	5.77	0.91146	.	0.739526	0.13052	N	0.417565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.0645	0.86556	0.0:1.0:0.0:0.0	.	.	.	.	X	472	.	ENSP00000390600:E472X	E	-	1	0	SCN10A	38772330	0.963000	0.33076	0.883000	0.34634	0.111000	0.19643	4.703000	0.61824	2.884000	0.98904	0.655000	0.94253	GAA	SCN10A	-	NULL	ENSG00000185313		0.493	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	380	0.00	0	C	NM_006514		38797326	38797326	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	nonsense	358	10.95	44	SNP	0.917	A
SCN10A	6336	genome.wustl.edu	37	3	38804996	38804996	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:38804996C>A	ENST00000449082.2	-	5	690	c.691G>T	c.(691-693)Ggc>Tgc	p.G231C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	231					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AAATGCTCACCTGGGATCACA	0.438																																						dbGAP											0													163.0	159.0	161.0					3																	38804996		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.691+1G>T	3.37:g.38804996C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.G231C	ENST00000449082.2	37	c.691	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381272	0.82792	.	.	ENSG00000185313	ENST00000449082	D	0.98901	-5.22	4.42	4.42	0.53409	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.99169	4.455	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.97470	1.0040	9	.	.	.	.	17.5798	0.87963	0.0:1.0:0.0:0.0	.	231	Q9Y5Y9	SCNAA_HUMAN	C	231	ENSP00000390600:G231C	.	G	-	1	0	SCN10A	38780000	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.514000	0.81750	2.431000	0.82371	0.557000	0.71058	GGC	SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.438	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	559	0.00	0	C	NM_006514	Missense_Mutation	38804996	38804996	-1	no_errors	ENST00000449082	ensembl	human	known	69_37n	missense	525	15.32	95	SNP	1.000	A
SCN11A	11280	genome.wustl.edu	37	3	38936052	38936052	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:38936052C>T	ENST00000302328.3	-	15	3005	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	SCN11A_ENST00000450244.1_Missense_Mutation_p.R936H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R936H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	936					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGTGTGATGCGCTGTGCATT	0.498																																						dbGAP											0													233.0	234.0	234.0					3																	38936052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2807G>A	3.37:g.38936052C>T	ENSP00000307599:p.Arg936His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R936H	ENST00000302328.3	37	c.2807	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334966	0.24253	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.2	0.737	0.18314	Sodium ion transport-associated (1);	3.917410	0.00496	N	0.000151	T	0.64832	0.2634	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56932	-0.7897	10	0.40728	T	0.16	.	8.8037	0.34925	0.0:0.3173:0.3741:0.3086	.	936	Q9UI33	SCNBA_HUMAN	H	936	ENSP00000307599:R936H;ENSP00000400945:R936H;ENSP00000416757:R936H;ENSP00000408028:R936H	ENSP00000307599:R936H	R	-	2	0	SCN11A	38911056	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.380000	0.07427	0.194000	0.20326	-0.139000	0.14373	CGC	SCN11A	-	pfam_Na_trans_assoc	ENSG00000168356		0.498	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	268	0.00	0	C	NM_014139		38936052	38936052	-1	no_errors	ENST00000302328	ensembl	human	known	69_37n	missense	201	12.23	28	SNP	0.000	T
SCN1A	6323	genome.wustl.edu	37	2	166848159	166848159	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166848159G>T	ENST00000303395.4	-	26	5625	c.5626C>A	c.(5626-5628)Cta>Ata	p.L1876I	SCN1A_ENST00000423058.2_Missense_Mutation_p.L1876I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1865I|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1848I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1876					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCTCTCCTAGAACCCGCTTT	0.463																																						dbGAP											0													83.0	77.0	79.0					2																	166848159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5626C>A	2.37:g.166848159G>T	ENSP00000303540:p.Leu1876Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.L1876I	ENST00000303395.4	37	c.5626	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458818	0.63401	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97209	-4.29;-4.29;-4.24;-4.21	5.6	2.29	0.28610	.	0.000000	0.49305	D	0.000151	D	0.97958	0.9328	M	0.84846	2.72	0.41335	D	0.987266	D	0.56968	0.978	D	0.81914	0.995	D	0.97448	1.0026	10	0.87932	D	0	.	7.4421	0.27190	0.4247:0.0:0.5753:0.0	.	1865	P35498-2	.	I	1876;1876;1865;1848	ENSP00000407030:L1876I;ENSP00000303540:L1876I;ENSP00000364554:L1865I;ENSP00000386312:L1848I	ENSP00000303540:L1876I	L	-	1	2	SCN1A	166556405	0.038000	0.19896	0.604000	0.28916	0.995000	0.86356	0.401000	0.20948	0.812000	0.34326	0.650000	0.86243	CTA	SCN1A	-	NULL	ENSG00000144285		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	154	0.00	0	G	NM_006920		166848159	166848159	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	119	26.38	43	SNP	0.915	T
SCN1A	6323	genome.wustl.edu	37	2	166892889	166892889	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166892889A>C	ENST00000303395.4	-	16	3097	c.3098T>G	c.(3097-3099)tTt>tGt	p.F1033C	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.F1033C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1022C|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1005C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1033					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGTTGAATAAATTCATATAT	0.318																																						dbGAP											0													55.0	57.0	56.0					2																	166892889		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3098T>G	2.37:g.166892889A>C	ENSP00000303540:p.Phe1033Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.F1033C	ENST00000303395.4	37	c.3098	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	14.65	2.600211	0.46423	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.44	5.44	0.79542	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.89567	0.6752	L	0.61036	1.89	0.44652	D	0.997637	B;B;D	0.76494	0.001;0.001;0.999	B;B;D	0.72075	0.002;0.003;0.976	D	0.87534	0.2454	10	0.27082	T	0.32	.	11.7416	0.51796	0.8528:0.1472:0.0:0.0	.	1022;1005;1033	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	1033;1033;1022;1005	ENSP00000407030:F1033C;ENSP00000303540:F1033C;ENSP00000364554:F1022C;ENSP00000386312:F1005C	ENSP00000303540:F1033C	F	-	2	0	SCN1A	166601135	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.828000	0.48120	2.187000	0.69744	0.533000	0.62120	TTT	SCN1A	-	pfam_Na_trans_assoc	ENSG00000144285		0.318	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	105	0.00	0	A	NM_006920		166892889	166892889	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	1.000	C
SCN2A	6326	genome.wustl.edu	37	2	166165719	166165719	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166165719G>A	ENST00000375437.2	+	6	895				SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000357398.3_Missense_Mutation_p.R217Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R217Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R217Q(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGCTCTTCGAACTTTCAGA	0.363																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											74.0	73.0	73.0					2																	166165719		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.606-143G>A	2.37:g.166165719G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R217Q	ENST00000375437.2	37	c.650	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475952	0.84640	.	.	ENSG00000136531	ENST00000357398;ENST00000375427	D;D	0.98617	-5.03;-5.03	5.48	5.48	0.80851	.	0.220091	0.32328	N	0.006260	D	0.99196	0.9721	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99727	1.1011	9	0.87932	D	0	.	19.706	0.96072	0.0:0.0:1.0:0.0	.	217	Q99250-2	.	Q	217	ENSP00000349973:R217Q;ENSP00000364576:R217Q	ENSP00000349973:R217Q	R	+	2	0	SCN2A	165873965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	CGA	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.363	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	411	0.00	0	G	NM_021007		166165719	166165719	+1	no_errors	ENST00000357398	ensembl	human	known	69_37n	missense	213	24.73	70	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166165920	166165920	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166165920C>A	ENST00000375437.2	+	6	954	c.664C>A	c.(664-666)Ctc>Atc	p.L222I	SCN2A_ENST00000283256.6_Missense_Mutation_p.L222I|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	222					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L222F(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCAGAGTTCTCCGAGCATT	0.448																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	93.0	97.0					2																	166165920		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.664C>A	2.37:g.166165920C>A	ENSP00000364586:p.Leu222Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L222I	ENST00000375437.2	37	c.664	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732522	0.69189	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000283256	D;D;D	0.99014	-5.33;-5.33;-5.33	5.58	5.58	0.84498	Ion transport (1);	.	.	.	.	D	0.99515	0.9827	H	0.94925	3.6	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98393	1.0564	9	0.87932	D	0	.	18.1063	0.89521	0.0:1.0:0.0:0.0	.	222	Q99250	SCN2A_HUMAN	I	222	ENSP00000406454:L222I;ENSP00000364586:L222I;ENSP00000283256:L222I	ENSP00000283256:L222I	L	+	1	0	SCN2A	165874166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.052000	0.71080	2.789000	0.95967	0.655000	0.94253	CTC	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	335	0.00	0	C	NM_021007		166165920	166165920	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	205	27.05	76	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166166992	166166992	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166166992C>A	ENST00000375437.2	+	7	1147	c.857C>A	c.(856-858)tCt>tAt	p.S286Y	SCN2A_ENST00000283256.6_Missense_Mutation_p.S286Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.S286Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.S286Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	286					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGATAATTCTTCCTTTGAA	0.368																																						dbGAP											0													149.0	146.0	147.0					2																	166166992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.857C>A	2.37:g.166166992C>A	ENSP00000364586:p.Ser286Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.S286Y	ENST00000375437.2	37	c.857	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	9.339	1.062438	0.19987	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96587	-4.06;-3.97;-3.97;-3.97;-3.97	5.17	5.17	0.71159	Ion transport (1);	0.302373	0.23813	N	0.044304	D	0.94994	0.8380	L	0.55103	1.725	0.35003	D	0.756154	B;B	0.29805	0.257;0.003	B;B	0.34536	0.185;0.008	D	0.95259	0.8367	10	0.20519	T	0.43	.	19.0206	0.92912	0.0:1.0:0.0:0.0	.	286;286	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	286	ENSP00000406454:S286Y;ENSP00000364586:S286Y;ENSP00000349973:S286Y;ENSP00000283256:S286Y;ENSP00000364576:S286Y	ENSP00000283256:S286Y	S	+	2	0	SCN2A	165875238	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	0.456000	0.21859	2.571000	0.86741	0.557000	0.71058	TCT	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.368	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	500	0.00	0	C	NM_021007		166166992	166166992	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	257	18.67	59	SNP	1.000	A
SCN2A	6326	genome.wustl.edu	37	2	166210776	166210776	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166210776C>T	ENST00000375437.2	+	17	3284	c.2994C>T	c.(2992-2994)aaC>aaT	p.N998N	SCN2A_ENST00000283256.6_Silent_p.N998N|SCN2A_ENST00000357398.3_Silent_p.N998N|SCN2A_ENST00000375427.2_Silent_p.N998N	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	998					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGATGATAACGAAATGAATA	0.393																																						dbGAP											0													164.0	169.0	167.0					2																	166210776		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2994C>T	2.37:g.166210776C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.N998	ENST00000375437.2	37	c.2994	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Na_trans_assoc	ENSG00000136531		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	178	0.00	0	C	NM_021007		166210776	166210776	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	silent	111	18.38	25	SNP	1.000	T
SCN2A	6326	genome.wustl.edu	37	2	166243460	166243460	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166243460C>T	ENST00000375437.2	+	26	5046	c.4756C>T	c.(4756-4758)Cgt>Tgt	p.R1586C	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1586C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1586C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1586C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1586					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTCTCTTCGTTACTACTA	0.363																																						dbGAP											0													229.0	210.0	217.0					2																	166243460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4756C>T	2.37:g.166243460C>T	ENSP00000364586:p.Arg1586Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R1586C	ENST00000375437.2	37	c.4756	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817016	0.90790	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.967	D	0.98333	1.0534	10	0.87932	D	0	.	18.6724	0.91516	0.0:1.0:0.0:0.0	.	1586;1586	Q99250-2;Q99250	.;SCN2A_HUMAN	C	1586	ENSP00000364586:R1586C;ENSP00000349973:R1586C;ENSP00000283256:R1586C;ENSP00000364576:R1586C	ENSP00000283256:R1586C	R	+	1	0	SCN2A	165951706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.920000	0.70017	2.418000	0.82041	0.650000	0.86243	CGT	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.363	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	1364	0.07	1	C	NM_021007		166243460	166243460	+1	no_errors	ENST00000283256	ensembl	human	known	69_37n	missense	670	12.74	98	SNP	1.000	T
SCN1A	6323	genome.wustl.edu	37	2	166894582	166894582	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166894582C>T	ENST00000303395.4	-	15	2649	c.2650G>A	c.(2650-2652)Ggc>Agc	p.G884S	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.G884S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G873S|SCN1A_ENST00000409050.1_Missense_Mutation_p.G856S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	884					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGGAATTGCCGATGATCTTT	0.403																																						dbGAP											0													61.0	63.0	62.0					2																	166894582		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2650G>A	2.37:g.166894582C>T	ENSP00000303540:p.Gly884Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.G884S	ENST00000303395.4	37	c.2650	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634952	0.87760	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98902	0.9628	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;P	0.91635	0.999;0.999;0.745	D	0.99905	1.1175	10	0.87932	D	0	.	18.5005	0.90879	0.0:1.0:0.0:0.0	.	873;856;884	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	884;884;873;856	ENSP00000407030:G884S;ENSP00000303540:G884S;ENSP00000364554:G873S;ENSP00000386312:G856S	ENSP00000303540:G884S	G	-	1	0	SCN1A	166602828	1.000000	0.71417	0.992000	0.48379	0.583000	0.36354	7.726000	0.84824	2.437000	0.82529	0.591000	0.81541	GGC	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.403	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	154	0.65	1	C	NM_006920		166894582	166894582	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	108	12.90	16	SNP	1.000	T
SCN4A	6329	genome.wustl.edu	37	17	62021172	62021172	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:62021172C>A	ENST00000435607.1	-	22	4027	c.3951G>T	c.(3949-3951)aaG>aaT	p.K1317N	SCN4A_ENST00000578147.1_Missense_Mutation_p.K1317N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1317					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TATAGTATTTCTTCTGTTCCT	0.547																																						dbGAP											0													95.0	96.0	96.0					17																	62021172		2154	4292	6446	-	-	-	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3951G>T	17.37:g.62021172C>A	ENSP00000396320:p.Lys1317Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.K1317N	ENST00000435607.1	37	c.3951	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772124	0.69992	.	.	ENSG00000007314	ENST00000435607	D	0.96830	-4.14	3.38	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	H	0.98351	4.21	0.51233	D	0.999913	D	0.89917	1.0	D	0.76071	0.987	D	0.98994	1.0809	10	0.87932	D	0	.	14.2846	0.66238	0.0:1.0:0.0:0.0	.	1317	P35499	SCN4A_HUMAN	N	1317	ENSP00000396320:K1317N	ENSP00000396320:K1317N	K	-	3	2	SCN4A	59374904	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.882000	0.56160	1.903000	0.55091	0.448000	0.29417	AAG	SCN4A	-	NULL	ENSG00000007314		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		221	0.45	1	C	NM_000334		62021172	62021172	-1	no_errors	ENST00000435607	ensembl	human	known	69_37n	missense	148	11.83	20	SNP	1.000	A
SCN4A	6329	genome.wustl.edu	37	17	62038792	62038792	+	Splice_Site	SNP	C	C	A	rs267604991		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:62038792C>A	ENST00000435607.1	-	11	1683		c.e11-1		SCN4A_ENST00000578147.1_Splice_Site	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit						membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTCCAGTTCTGGGAGAGGG	0.577																																						dbGAP											0													111.0	112.0	111.0					17																	62038792		1928	4121	6049	-	-	-	SO:0001630	splice_region_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1607-1G>T	17.37:g.62038792C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15478|Q16447|Q7Z6B1	Splice_Site	SNP	-	e11-1	ENST00000435607.1	37	c.1607-1	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	c	19.54	3.847650	0.71603	.	.	ENSG00000007314	ENST00000435607	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9049	0.79419	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN4A	59392524	1.000000	0.71417	0.996000	0.52242	0.838000	0.47535	7.614000	0.82996	2.226000	0.72624	0.450000	0.29827	.	SCN4A	-	-	ENSG00000007314		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		49	0.00	0	C	NM_000334	Intron	62038792	62038792	-1	no_errors	ENST00000435607	ensembl	human	known	69_37n	splice_site	21	16.00	4	SNP	1.000	A
SCN4B	6330	genome.wustl.edu	37	11	118015788	118015788	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118015788C>A	ENST00000324727.4	-	2	364	c.218G>T	c.(217-219)aGt>aTt	p.S73I	SCN4B_ENST00000423160.2_5'Flank|SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	73	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATGCGTCACTGCTGTTGTA	0.562											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													264.0	245.0	251.0					11																	118015788		2200	4296	6496	-	-	-	SO:0001583	missense	0			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.218G>T	11.37:g.118015788C>A	ENSP00000322460:p.Ser73Ile	Somatic	1485	WXS	Illumina GAIIx	Phase_IV	E9PPT5|Q6PIG5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S73I	ENST00000324727.4	37	c.218	CCDS8389.1	11	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019513	0.35606	.	.	ENSG00000177098	ENST00000324727	T	0.67171	-0.25	5.36	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.168332	0.50627	D	0.000116	T	0.62490	0.2432	L	0.54323	1.7	0.80722	D	1	P	0.39624	0.681	P	0.44860	0.462	T	0.59841	-0.7378	10	0.37606	T	0.19	-21.3289	6.908	0.24319	0.0:0.6186:0.2781:0.1032	.	73	Q8IWT1	SCN4B_HUMAN	I	73	ENSP00000322460:S73I	ENSP00000322460:S73I	S	-	2	0	SCN4B	117520998	0.007000	0.16637	0.663000	0.29738	0.120000	0.20174	-0.057000	0.11768	1.267000	0.44247	-0.145000	0.13849	AGT	SCN4B	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000177098		0.562	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN4B	HGNC	protein_coding	OTTHUMT00000392326.1	104	0.00	0	C			118015788	118015788	-1	no_errors	ENST00000324727	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	0.821	A
SCN9A	6335	genome.wustl.edu	37	2	167055613	167055613	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:167055613T>C	ENST00000409435.1	-	26	5535	c.5536A>G	c.(5536-5538)Aca>Gca	p.T1846A	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.T1847A|SCN9A_ENST00000409672.1_Missense_Mutation_p.T1835A|SCN9A_ENST00000375387.4_Missense_Mutation_p.T1847A			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1846					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACACGCTTTGTAAAAGCAAAT	0.448																																						dbGAP											0													128.0	130.0	129.0					2																	167055613		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5536A>G	2.37:g.167055613T>C	ENSP00000386330:p.Thr1846Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.T1847A	ENST00000409435.1	37	c.5539	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662382	0.67700	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96491	-4.0;-4.02;-4.02;-4.03	6.07	4.9	0.64082	.	0.175866	0.40554	N	0.001065	D	0.97785	0.9273	M	0.84948	2.725	0.50467	D	0.999876	P	0.36412	0.552	P	0.53035	0.716	D	0.97749	1.0213	10	0.87932	D	0	.	13.4669	0.61260	0.0:0.0:0.1306:0.8694	.	1835	E7EUN6	.	A	1835;1847;1847;1846	ENSP00000386306:T1835A;ENSP00000364536:T1847A;ENSP00000304748:T1847A;ENSP00000386330:T1846A	ENSP00000304748:T1847A	T	-	1	0	SCN9A	166763859	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.997000	0.88414	1.078000	0.41014	0.533000	0.62120	ACA	SCN9A	-	NULL	ENSG00000169432		0.448	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	189	0.00	0	T	NM_002977		167055613	167055613	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	121	10.37	14	SNP	1.000	C
SCN9A	6335	genome.wustl.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A	rs202083986		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:167162345G>A	ENST00000409435.1	-	4	552	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_ENST00000303354.6_Missense_Mutation_p.R186C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R185C|SCN9A_ENST00000375387.4_Missense_Mutation_p.R186C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	185					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGGGTCACGAAGAAAAGTG	0.378																																						dbGAP											0													84.0	82.0	83.0					2																	167162345		1843	4105	5948	-	-	-	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.553C>T	2.37:g.167162345G>A	ENSP00000386330:p.Arg185Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R186C	ENST00000409435.1	37	c.556	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	g	24.1	4.490953	0.84962	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98937	-5.25;-5.25;-5.25;-5.25;-5.25;-5.25	5.96	5.96	0.96718	Ion transport (1);	0.089808	0.49916	D	0.000134	D	0.99477	0.9814	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98485	1.0607	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	185;185;186	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	C	185;186;186;185;50;50	ENSP00000386306:R185C;ENSP00000364536:R186C;ENSP00000304748:R186C;ENSP00000386330:R185C;ENSP00000413212:R50C;ENSP00000393141:R50C	ENSP00000304748:R186C	R	-	1	0	SCN9A	166870591	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	2.299000	0.43611	2.831000	0.97527	0.650000	0.86243	CGT	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.378	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	150	0.66	1	G	NM_002977		167162345	167162345	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	missense	128	13.51	20	SNP	1.000	A
SCPEP1	59342	genome.wustl.edu	37	17	55065597	55065597	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:55065597C>A	ENST00000262288.3	+	5	547	c.492C>A	c.(490-492)ttC>ttA	p.F164L	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	164					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCTACATTTTCTCAGAGTCCT	0.333																																						dbGAP											0													144.0	143.0	143.0					17																	55065597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.492C>A	17.37:g.55065597C>A	ENSP00000262288:p.Phe164Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A94|Q9H3F0	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.F164L	ENST00000262288.3	37	c.492	CCDS11593.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264441	0.80358	.	.	ENSG00000121064	ENST00000262288	T	0.39997	1.05	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	M	0.84948	2.725	0.80722	D	1	P	0.49635	0.926	P	0.56612	0.802	T	0.57602	-0.7783	10	0.15499	T	0.54	-0.8754	13.5601	0.61784	0.0:0.9192:0.0:0.0808	.	164	Q9HB40	RISC_HUMAN	L	164	ENSP00000262288:F164L	ENSP00000262288:F164L	F	+	3	2	SCPEP1	52420596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.091000	0.41691	2.763000	0.94921	0.563000	0.77884	TTC	SCPEP1	-	pfam_Peptidase_S10,prints_Peptidase_S10	ENSG00000121064		0.333	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	265	0.00	0	C	NM_021626		55065597	55065597	+1	no_errors	ENST00000262288	ensembl	human	known	69_37n	missense	235	31.29	107	SNP	1.000	A
SCRN3	79634	genome.wustl.edu	37	2	175263038	175263038	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:175263038C>T	ENST00000272732.6	+	2	109	c.27C>T	c.(25-27)ttC>ttT	p.F9F	CIR1_ENST00000362053.5_5'Flank|SCRN3_ENST00000409673.3_Intron|CIR1_ENST00000342016.3_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	9							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GTGACACTTTCGTGGCATTAC	0.294																																						dbGAP											0													82.0	87.0	86.0					2																	175263038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.27C>T	2.37:g.175263038C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Silent	SNP	pfam_Peptidase_C69	p.F9	ENST00000272732.6	37	c.27	CCDS2258.1	2																																																																																			SCRN3	-	NULL	ENSG00000144306		0.294	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	186	0.53	1	C	NM_024583		175263038	175263038	+1	no_errors	ENST00000272732	ensembl	human	known	69_37n	silent	64	31.18	29	SNP	0.983	T
SCUBE2	57758	genome.wustl.edu	37	11	9069074	9069074	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:9069074C>T	ENST00000309263.3	-	15	1816	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	SCUBE2_ENST00000457346.2_Missense_Mutation_p.E611K|SCUBE2_ENST00000450649.2_Missense_Mutation_p.E456K|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E611K|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	582						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGCCGCTTCTCGGTTCGCTTT	0.562																																						dbGAP											0													72.0	59.0	64.0					11																	9069074		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1744G>A	11.37:g.9069074C>T	ENSP00000310658:p.Glu582Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E611K	ENST00000309263.3	37	c.1831		11	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842874	0.91197	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;D;D;D	0.84223	-1.48;-1.56;-1.82;-1.71	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.90655	0.7069	L	0.61036	1.89	0.80722	D	1	D;B;B	0.89917	1.0;0.176;0.127	P;B;B	0.62298	0.9;0.128;0.025	D	0.90981	0.4827	10	0.59425	D	0.04	.	19.1303	0.93402	0.0:1.0:0.0:0.0	.	456;611;582	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	K	611;582;456;611	ENSP00000390481:E611K;ENSP00000310658:E582K;ENSP00000415187:E456K;ENSP00000429969:E611K	ENSP00000310658:E582K	E	-	1	0	SCUBE2	9025650	1.000000	0.71417	0.998000	0.56505	0.759000	0.43091	7.624000	0.83124	2.603000	0.88011	0.655000	0.94253	GAG	SCUBE2	-	NULL	ENSG00000175356		0.562	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	158	0.00	0	C	NM_020974		9069074	9069074	-1	no_errors	ENST00000457346	ensembl	human	known	69_37n	missense	140	11.39	18	SNP	1.000	T
SCUBE3	222663	genome.wustl.edu	37	6	35207566	35207566	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:35207566C>A	ENST00000274938.7	+	8	867	c.867C>A	c.(865-867)gaC>gaA	p.D289E	SCUBE3_ENST00000394681.1_Missense_Mutation_p.D305E	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGGGCTGTGACCATATTTGCC	0.463																																						dbGAP											0													108.0	105.0	106.0					6																	35207566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.867C>A	6.37:g.35207566C>A	ENSP00000274938:p.Asp289Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,prints_Thrombomodulin,pfscan_CUB,pfscan_EG-like_dom	p.D305E	ENST00000274938.7	37	c.915	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573646	0.65765	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.95756	-3.8;-3.8	5.66	4.8	0.61643	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90253	0.6952	N	0.01779	-0.725	0.58432	D	0.999995	D;D	0.69078	0.997;0.995	D;D	0.80764	0.994;0.984	D	0.92775	0.6235	10	0.34782	T	0.22	.	14.571	0.68210	0.0:0.9301:0.0:0.0699	.	305;289	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	E	305;289	ENSP00000378174:D305E;ENSP00000274938:D289E	ENSP00000274938:D289E	D	+	3	2	SCUBE3	35315544	1.000000	0.71417	0.997000	0.53966	0.868000	0.49771	1.985000	0.40668	1.385000	0.46445	-0.136000	0.14681	GAC	SCUBE3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000146197		0.463	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	114	0.00	0	C	NM_152753		35207566	35207566	+1	no_errors	ENST00000394681	ensembl	human	known	69_37n	missense	106	10.17	12	SNP	1.000	A
SCUBE3	222663	genome.wustl.edu	37	6	35213815	35213815	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:35213815C>A	ENST00000274938.7	+	20	2694	c.2694C>A	c.(2692-2694)ttC>ttA	p.F898L	SCUBE3_ENST00000394681.1_Missense_Mutation_p.F914L	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGATCAACTTCAAGACAAGCG	0.542																																						dbGAP											0													189.0	185.0	187.0					6																	35213815		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2694C>A	6.37:g.35213815C>A	ENSP00000274938:p.Phe898Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,prints_Thrombomodulin,pfscan_CUB,pfscan_EG-like_dom	p.F914L	ENST00000274938.7	37	c.2742	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171169	0.78452	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.33654	1.4;1.4	5.63	0.881	0.19166	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	M	0.73319	2.225	0.53005	D	0.999967	D;D	0.63046	0.99;0.992	D;D	0.76071	0.979;0.987	T	0.45131	-0.9282	10	0.87932	D	0	.	10.0778	0.42370	0.0:0.6052:0.0:0.3948	.	914;898	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	L	914;898	ENSP00000378174:F914L;ENSP00000274938:F898L	ENSP00000274938:F898L	F	+	3	2	SCUBE3	35321793	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.747000	0.38298	-0.123000	0.11745	-0.145000	0.13849	TTC	SCUBE3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000146197		0.542	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	245	0.81	2	C	NM_152753		35213815	35213815	+1	no_errors	ENST00000394681	ensembl	human	known	69_37n	missense	199	16.74	40	SNP	1.000	A
SCYL3	57147	genome.wustl.edu	37	1	169823532	169823532	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169823532A>C	ENST00000367770.1	-	12	2095	c.2048T>G	c.(2047-2049)aTt>aGt	p.I683S	SCYL3_ENST00000367772.4_Missense_Mutation_p.I683S|SCYL3_ENST00000367771.6_Missense_Mutation_p.I629S			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	683	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393																																						dbGAP											0													135.0	139.0	138.0					1																	169823532		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.2048T>G	1.37:g.169823532A>C	ENSP00000356744:p.Ile683Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.I683S	ENST00000367770.1	37	c.2048	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625326	0.87560	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770	T;T;T	0.60299	0.2;0.2;0.2	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.991	T	0.73953	-0.3820	10	0.87932	D	0	-24.0871	15.7969	0.78420	1.0:0.0:0.0:0.0	.	275;629;683	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	S	683;629;683	ENSP00000356746:I683S;ENSP00000356745:I629S;ENSP00000356744:I683S	ENSP00000356744:I683S	I	-	2	0	SCYL3	168090156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.919000	0.92770	2.207000	0.71202	0.533000	0.62120	ATT	SCYL3	-	NULL	ENSG00000000457		0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	307	0.00	0	A	NM_181093		169823532	169823532	-1	no_errors	ENST00000367770	ensembl	human	known	69_37n	missense	184	12.38	26	SNP	1.000	C
BNIP3L	665	genome.wustl.edu	37	8	26237898	26237898	+	5'Flank	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:26237898A>C	ENST00000380629.2	+	0	0				BNIP3L_ENST00000523515.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like						defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		TTGTGCAGCAAACAGAAGGTT	0.413																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433		8.37:g.26237898A>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZS9|Q5JW63|Q8NF87	RNA	SNP	-	NULL	ENST00000380629.2	37	NULL	CCDS6050.1	8																																																																																			SDAD1P1	-	-	ENSG00000228451		0.413	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1P1	HGNC	protein_coding	OTTHUMT00000216895.1	53	0.00	0	A	NM_004331		26237898	26237898	-1	no_errors	ENST00000519902	ensembl	human	known	69_37n	rna	48	22.58	14	SNP	1.000	C
SDCCAG3	10807	genome.wustl.edu	37	9	139297260	139297260	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:139297260C>A	ENST00000357365.3	-	10	1417	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.D357Y|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.D407Y	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	430						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCTCCTCGTCTTTAACTTCA	0.468																																						dbGAP											0													44.0	44.0	44.0					9																	139297260		1875	4094	5969	-	-	-	SO:0001583	missense	0			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.1288G>T	9.37:g.139297260C>A	ENSP00000349929:p.Asp430Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.D430Y	ENST00000357365.3	37	c.1288	CCDS43904.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.88|11.88	1.769381|1.769381	0.31320|0.31320	.|.	.|.	ENSG00000165689|ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725|ENST00000417512	T;T;T|T	0.16073|0.26067	2.37;2.4;2.4|1.76	3.33|3.33	3.33|3.33	0.38152|0.38152	.|.	0.615793|.	0.17211|.	N|.	0.182734|.	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.44542|0.44542	1.39|1.39	0.35257|0.35257	D|D	0.779273|0.779273	D;D;D|.	0.62365|.	0.991;0.991;0.991|.	P;P;P|.	0.56823|.	0.807;0.807;0.807|.	T|T	0.44667|0.44667	-0.9313|-0.9313	10|7	0.72032|0.56958	D|D	0.01|0.05	-19.9807|-19.9807	10.9049|10.9049	0.47073|0.47073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	357;407;430|.	Q96C92-4;Q96C92-2;Q96C92|.	.;.;SDCG3_HUMAN|.	Y|N	430;407;357|161	ENSP00000349929:D430Y;ENSP00000298537:D407Y;ENSP00000360790:D357Y|ENSP00000409255:K161N	ENSP00000298537:D407Y|ENSP00000409255:K161N	D|K	-|-	1|3	0|2	SDCCAG3|SDCCAG3	138417081|138417081	0.990000|0.990000	0.36364|0.36364	0.150000|0.150000	0.22450|0.22450	0.051000|0.051000	0.14879|0.14879	2.136000|2.136000	0.42121|0.42121	1.812000|1.812000	0.52913|0.52913	0.645000|0.645000	0.84053|0.84053	GAC|AAG	SDCCAG3	-	NULL	ENSG00000165689		0.468	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	21	0.00	0	C	NM_006643		139297260	139297260	-1	no_errors	ENST00000357365	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.945	A
LINC00969	440993	genome.wustl.edu	37	3	195410673	195410673	+	lincRNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:195410673G>A	ENST00000445430.1	+	0	1870									long intergenic non-protein coding RNA 969																		GGCAACAGAAGAAGCCCTTTG	0.532																																						dbGAP											0																																										-	-	-			0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410673G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			SDHAP2	-	-	ENSG00000215837		0.532	LINC00969-038	KNOWN	basic	lincRNA	SDHAP2	HGNC	lincRNA	OTTHUMT00000341951.1	151	0.00	0	G			195410673	195410673	+1	no_errors	ENST00000429897	ensembl	human	known	69_37n	rna	96	20.66	25	SNP	1.000	A
SDHAP1	255812	genome.wustl.edu	37	3	195701367	195701367	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:195701367G>A	ENST00000427841.1	-	0	1457					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		ATGTGCAGAGGCACAGGCGGC	0.602																																					Ovarian(67;1158 1227 12109 20189 43170)	dbGAP											0																																										-	-	-			0			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701367G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-	ENSG00000185485		0.602	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	165	0.00	0	G			195701367	195701367	-1	no_errors	ENST00000427841	ensembl	human	known	69_37n	rna	122	11.97	17	SNP	1.000	A
SDHB	6390	genome.wustl.edu	37	1	17354230	17354230	+	Intron	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:17354230T>C	ENST00000375499.3	-	5	691					NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	AAACAATAAATAGGGACTAAT	0.418			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													dbGAP	yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""		O	0													141.0	137.0	138.0					1																	17354230		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.540+13A>G	1.37:g.17354230T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R545|Q0QEY7|Q9NQ12	RNA	SNP	-	NULL	ENST00000375499.3	37	NULL	CCDS176.1	1																																																																																			SDHB	-	-	ENSG00000117118		0.418	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHB	HGNC	protein_coding	OTTHUMT00000006603.1	199	0.00	0	T	NM_003000		17354230	17354230	-1	no_errors	ENST00000475506	ensembl	human	known	69_37n	rna	150	12.72	22	SNP	0.000	C
SDK1	221935	genome.wustl.edu	37	7	4107566	4107566	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:4107566C>A	ENST00000404826.2	+	20	3147	c.3008C>A	c.(3007-3009)aCt>aAt	p.T1003N	SDK1_ENST00000389531.3_Missense_Mutation_p.T1003N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1003	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCATCATTACTGGTAAGTAG	0.473																																						dbGAP											0													55.0	54.0	54.0					7																	4107566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3008C>A	7.37:g.4107566C>A	ENSP00000385899:p.Thr1003Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1003N	ENST00000404826.2	37	c.3008	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388914	0.42308	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.59638	0.25;0.25	4.54	2.26	0.28386	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.151935	0.41712	D	0.000824	T	0.68430	0.3000	M	0.86805	2.84	0.35301	D	0.782992	B;P	0.35033	0.174;0.481	B;P	0.44623	0.161;0.455	T	0.79145	-0.1924	10	0.72032	D	0.01	.	11.9602	0.53005	0.0:0.8266:0.0:0.1734	.	1003;1003	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	N	1003	ENSP00000385899:T1003N;ENSP00000374182:T1003N	ENSP00000374182:T1003N	T	+	2	0	SDK1	4074092	1.000000	0.71417	0.870000	0.34147	0.691000	0.40173	1.681000	0.37618	0.858000	0.35431	0.655000	0.94253	ACT	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.473	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	158	0.63	1	C	NM_152744		4107566	4107566	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	92	25.81	32	SNP	0.995	A
SDK1	221935	genome.wustl.edu	37	7	4259823	4259823	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:4259823C>A	ENST00000404826.2	+	39	5761	c.5622C>A	c.(5620-5622)acC>acA	p.T1874T	SDK1_ENST00000389531.3_Silent_p.T1854T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1874	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGGAGTGACCTATTTCTTCC	0.627																																						dbGAP											0													112.0	113.0	113.0					7																	4259823		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5622C>A	7.37:g.4259823C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1874	ENST00000404826.2	37	c.5622	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.627	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	63	0.00	0	C	NM_152744		4259823	4259823	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	silent	27	32.50	13	SNP	1.000	A
SDPR	8436	genome.wustl.edu	37	2	192701198	192701198	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:192701198C>A	ENST00000304141.4	-	2	1058	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			AAAATGCTTTCTTGAGGCTAT	0.448																																						dbGAP											0													216.0	227.0	223.0					2																	192701198		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.729G>T	2.37:g.192701198C>A	ENSP00000305675:p.Lys243Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.K243N	ENST00000304141.4	37	c.729	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237916	0.79800	.	.	ENSG00000168497	ENST00000304141	T	0.70164	-0.46	5.16	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.82193	2.58	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.80279	-0.1449	10	0.87932	D	0	-40.3959	10.1386	0.42721	0.0:0.7851:0.0:0.2149	.	243	O95810	SDPR_HUMAN	N	243	ENSP00000305675:K243N	ENSP00000305675:K243N	K	-	3	2	SDPR	192409443	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.222000	0.51223	0.362000	0.24319	0.563000	0.77884	AAG	SDPR	-	NULL	ENSG00000168497		0.448	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	212	0.00	0	C	NM_004657		192701198	192701198	-1	no_errors	ENST00000304141	ensembl	human	known	69_37n	missense	139	13.66	22	SNP	1.000	A
SDPR	8436	genome.wustl.edu	37	2	192701375	192701375	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:192701375C>A	ENST00000304141.4	-	2	881	c.552G>T	c.(550-552)gaG>gaT	p.E184D		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CCGGAAGCTCCTCCTTCCCTT	0.527																																						dbGAP											0													55.0	61.0	59.0					2																	192701375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.552G>T	2.37:g.192701375C>A	ENSP00000305675:p.Glu184Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E184D	ENST00000304141.4	37	c.552	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821283	0.50633	.	.	ENSG00000168497	ENST00000304141	T	0.60672	0.17	5.15	0.937	0.19494	.	0.281545	0.28549	N	0.014957	T	0.43322	0.1242	M	0.63843	1.955	0.48452	D	0.99965	B	0.32753	0.383	B	0.26094	0.066	T	0.35624	-0.9781	10	0.56958	D	0.05	-14.1383	1.3458	0.02163	0.1559:0.4031:0.1544:0.2867	.	184	O95810	SDPR_HUMAN	D	184	ENSP00000305675:E184D	ENSP00000305675:E184D	E	-	3	2	SDPR	192409620	0.000000	0.05858	0.984000	0.44739	0.926000	0.56050	-0.297000	0.08276	0.309000	0.22966	0.557000	0.71058	GAG	SDPR	-	NULL	ENSG00000168497		0.527	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	131	0.00	0	C	NM_004657		192701375	192701375	-1	no_errors	ENST00000304141	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	0.988	A
TMEM199	147007	genome.wustl.edu	37	17	26691534	26691534	+	IGR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26691534C>T	ENST00000292114.3	+	0	3148				CTB-96E2.2_ENST00000555059.2_3'UTR|VTN_ENST00000431468.1_Missense_Mutation_p.G136D|CTB-96E2.7_ENST00000577850.1_RNA|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_Missense_Mutation_p.G135D|VTN_ENST00000438614.1_Missense_Mutation_p.G135D	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGGAGGTTGGCCTGGCATTTG	0.617																																						dbGAP											0													43.0	49.0	47.0					17																	26691534		2036	4192	6228	-	-	-	SO:0001628	intergenic_variant	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691534C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G136D	ENST00000292114.3	37	c.407	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370833	0.24771	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.92545	-2.99;-3.06;-3.06	4.68	4.68	0.58851	.	0.350754	0.24740	N	0.035988	D	0.89911	0.6852	L	0.29908	0.895	0.09310	N	0.999998	D;D	0.59767	0.986;0.986	P;P	0.56343	0.796;0.796	T	0.81711	-0.0808	10	0.33141	T	0.24	.	8.0722	0.30695	0.1771:0.6515:0.1713:0.0	.	136;135	Q9HB31;C9JDG5	SEBOX_HUMAN;.	D	136;135;135;140;161	ENSP00000416240:G136D;ENSP00000444503:G135D;ENSP00000395142:G135D	ENSP00000247029:G140D	G	-	2	0	VTN;CTB-96E2.2	23715661	0.010000	0.17322	0.790000	0.31976	0.004000	0.04260	0.086000	0.14935	2.442000	0.82660	0.561000	0.74099	GGC	SEBOX	-	NULL	ENSG00000109072		0.617	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEBOX	HGNC	protein_coding	OTTHUMT00000255676.2	123	0.00	0	C	NM_152464		26691534	26691534	-1	no_errors	ENST00000431468	ensembl	human	known	69_37n	missense	62	13.89	10	SNP	0.018	T
SEC24A	10802	genome.wustl.edu	37	5	134028330	134028330	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:134028330T>G	ENST00000398844.2	+	12	2050	c.1762T>G	c.(1762-1764)Tta>Gta	p.L588V	SEC24A_ENST00000322887.4_Missense_Mutation_p.L588V	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	588					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTAGTAAACTTAAATGAAAG	0.244																																						dbGAP											0													54.0	54.0	54.0					5																	134028330		1788	4046	5834	-	-	-	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1762T>G	5.37:g.134028330T>G	ENSP00000381823:p.Leu588Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.L588V	ENST00000398844.2	37	c.1762	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285952	0.40394	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.74842	-0.88;-0.88	5.77	5.77	0.91146	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	M	0.63169	1.94	0.80722	D	1	P;D	0.54047	0.823;0.964	P;D	0.65323	0.882;0.934	T	0.81075	-0.1097	10	0.30078	T	0.28	-12.2448	16.0957	0.81123	0.0:0.0:0.0:1.0	.	352;588	B4E205;O95486	.;SC24A_HUMAN	V	588	ENSP00000381823:L588V;ENSP00000321749:L588V	ENSP00000321749:L588V	L	+	1	2	SEC24A	134056229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.511000	0.35801	2.199000	0.70637	0.533000	0.62120	TTA	SEC24A	-	pfam_Sec23/24_trunk_dom	ENSG00000113615		0.244	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	90	0.00	0	T			134028330	134028330	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	G
SEC24B	10427	genome.wustl.edu	37	4	110453844	110453844	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:110453844A>C	ENST00000265175.5	+	21	3495	c.3440A>C	c.(3439-3441)aAa>aCa	p.K1147T	SEC24B_ENST00000504968.2_Missense_Mutation_p.K1177T|SEC24B_ENST00000399100.2_Missense_Mutation_p.K1112T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1147					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTCTTCAAAAATTGTCTGCA	0.423																																						dbGAP											0													101.0	96.0	98.0					4																	110453844		1895	4117	6012	-	-	-	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3440A>C	4.37:g.110453844A>C	ENSP00000265175:p.Lys1147Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.K1147T	ENST00000265175.5	37	c.3440	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759181	0.49468	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.30182	1.54;1.54;1.54	5.75	5.75	0.90469	Gelsolin domain (1);	0.206181	0.53938	D	0.000047	T	0.31071	0.0785	L	0.45581	1.43	0.29234	N	0.873051	B;B;B;B;B	0.26195	0.144;0.021;0.144;0.118;0.144	B;B;B;B;B	0.36845	0.234;0.109;0.234;0.15;0.234	T	0.35798	-0.9774	10	0.62326	D	0.03	-23.8112	7.2264	0.26018	0.7797:0.1472:0.0731:0.0	.	1061;746;1177;1112;1147	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	1177;1112;1147	ENSP00000428564:K1177T;ENSP00000382051:K1112T;ENSP00000265175:K1147T	ENSP00000265175:K1147T	K	+	2	0	SEC24B	110673293	0.932000	0.31603	0.594000	0.28785	0.986000	0.74619	5.615000	0.67702	2.189000	0.69895	0.460000	0.39030	AAA	SEC24B	-	pfam_Gelsolin_dom	ENSG00000138802		0.423	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	167	0.00	0	A			110453844	110453844	+1	no_errors	ENST00000265175	ensembl	human	known	69_37n	missense	143	13.33	22	SNP	0.470	C
SEC24D	9871	genome.wustl.edu	37	4	119661913	119661913	+	Missense_Mutation	SNP	C	C	T	rs151309585		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:119661913C>T	ENST00000280551.6	-	17	2381	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	SEC24D_ENST00000429811.2_Missense_Mutation_p.D271N|SEC24D_ENST00000379735.5_Missense_Mutation_p.D716N|SEC24D_ENST00000419654.2_Missense_Mutation_p.D271N|SEC24D_ENST00000511481.1_Missense_Mutation_p.D346N|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	715					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATTTCTACATCGGTGGTGTTG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18705	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													139.0	122.0	127.0					4																	119661913		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2143G>A	4.37:g.119661913C>T	ENSP00000280551:p.Asp715Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.D716N	ENST00000280551.6	37	c.2146	CCDS3710.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.9	4.873229	0.91664	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	6.06	6.06	0.98353	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.90923	0.7147	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.92231	0.5792	10	0.87932	D	0	-31.0231	20.6397	0.99537	0.0:1.0:0.0:0.0	.	716;715	O94855-2;O94855	.;SC24D_HUMAN	N	715;716;271;346;271	ENSP00000280551:D715N;ENSP00000369059:D716N;ENSP00000409775:D271N;ENSP00000425491:D346N;ENSP00000388324:D271N	ENSP00000280551:D715N	D	-	1	0	SEC24D	119881361	1.000000	0.71417	0.351000	0.25721	0.165000	0.22458	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAT	SEC24D	-	pfam_Sec23_24_beta_S	ENSG00000150961		0.428	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	270	0.00	0	C			119661913	119661913	-1	no_errors	ENST00000379735	ensembl	human	known	69_37n	missense	129	16.77	26	SNP	1.000	T
SEC31B	25956	genome.wustl.edu	37	10	102250466	102250466	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:102250466G>A	ENST00000370345.3	-	20	2744	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	883	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACTCACCAGGCCTTACCCCA	0.547																																						dbGAP											0													41.0	40.0	40.0					10																	102250466		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2647C>T	10.37:g.102250466G>A	ENSP00000359370:p.Pro883Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P883S	ENST00000370345.3	37	c.2647	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	5.134	0.210251	0.09757	.	.	ENSG00000075826	ENST00000370345	T	0.55760	0.5	4.92	2.89	0.33648	.	0.286199	0.39020	N	0.001489	T	0.49983	0.1589	M	0.66939	2.045	0.80722	D	1	P;P	0.44734	0.481;0.842	B;B	0.43575	0.133;0.424	T	0.46952	-0.9154	10	0.24483	T	0.36	.	10.5675	0.45181	0.0:0.0:0.6599:0.3401	.	882;883	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	883	ENSP00000359370:P883S	ENSP00000359370:P883S	P	-	1	0	SEC31B	102240456	0.967000	0.33354	1.000000	0.80357	0.294000	0.27393	1.032000	0.30178	1.186000	0.42985	0.555000	0.69702	CCT	SEC31B	-	NULL	ENSG00000075826		0.547	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	219	0.00	0	G	NM_015490		102250466	102250466	-1	no_errors	ENST00000370345	ensembl	human	known	69_37n	missense	177	11.44	23	SNP	0.998	A
SEC31B	25956	genome.wustl.edu	37	10	102267700	102267700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:102267700C>A	ENST00000370345.3	-	6	701	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	SEC31B_ENST00000451524.1_Nonsense_Mutation_p.E202*|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Nonsense_Mutation_p.E45*|SEC31B_ENST00000370329.5_Nonsense_Mutation_p.E205*|NDUFB8_ENST00000531258.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	202					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATGATAGGTTCATTCTTCCTG	0.522																																						dbGAP											0													192.0	167.0	176.0					10																	102267700		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.604G>T	10.37:g.102267700C>A	ENSP00000359370:p.Glu202*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E202*	ENST00000370345.3	37	c.604	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.971753	0.97162	.	.	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000535773;ENST00000370329	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-10.784	19.0668	0.93114	0.0:1.0:0.0:0.0	.	.	.	.	X	202;202;45;205	.	ENSP00000359354:E205X	E	-	1	0	SEC31B	102257690	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	6.088000	0.71371	2.757000	0.94681	0.462000	0.41574	GAA	SEC31B	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000075826		0.522	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	140	0.00	0	C	NM_015490		102267700	102267700	-1	no_errors	ENST00000370345	ensembl	human	known	69_37n	nonsense	86	19.44	21	SNP	1.000	A
SEC61A1	29927	genome.wustl.edu	37	3	127786643	127786643	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:127786643G>T	ENST00000243253.3	+	11	1351				SEC61A1_ENST00000464451.1_Intron|SEC61A1_ENST00000483956.1_Intron|SEC61A1_ENST00000424880.2_Intron|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTGGGTATGAGAATCTGAATC	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1168-183G>T	3.37:g.127786643G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	RNA	SNP	-	NULL	ENST00000243253.3	37	NULL	CCDS3046.1	3																																																																																			SEC61A1	-	-	ENSG00000058262		0.448	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	12	0.00	0	G	NM_013336		127786643	127786643	+1	no_errors	ENST00000498837	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.007	T
SECISBP2	79048	genome.wustl.edu	37	9	91953429	91953429	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:91953429G>A	ENST00000375807.3	+	8	1217	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	SECISBP2_ENST00000339901.4_Silent_p.K309K|SECISBP2_ENST00000534113.2_Silent_p.K314K	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	382	Poly-Lys.				translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GAAAGAATAAGAAAAAGAAAG	0.333																																						dbGAP											0													56.0	61.0	60.0					9																	91953429		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1146G>A	9.37:g.91953429G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.K382	ENST00000375807.3	37	c.1146	CCDS6683.1	9																																																																																			SECISBP2	-	NULL	ENSG00000187742		0.333	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	169	0.00	0	G	NM_024077		91953429	91953429	+1	no_errors	ENST00000375807	ensembl	human	known	69_37n	silent	143	26.67	52	SNP	1.000	A
SEL1L2	80343	genome.wustl.edu	37	20	13912263	13912263	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:13912263C>A	ENST00000284951.5	-	3	343	c.269G>T	c.(268-270)aGa>aTa	p.R90I	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.R90I			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	90						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTCTTATTTCTCTTCAAGAT	0.249																																						dbGAP											0													39.0	35.0	36.0					20																	13912263		1763	3997	5760	-	-	-	SO:0001583	missense	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.269G>T	20.37:g.13912263C>A	ENSP00000284951:p.Arg90Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXX5	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.R90I	ENST00000284951.5	37	c.269		20	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383804	0.25031	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.26373	1.74;2.1	5.25	1.88	0.25563	Tetratricopeptide-like helical (1);	0.430930	0.22473	N	0.059593	T	0.14184	0.0343	N	0.24115	0.695	0.19945	N	0.999943	B;B	0.29085	0.031;0.232	B;B	0.24701	0.006;0.055	T	0.15838	-1.0423	10	0.39692	T	0.17	-6.6223	7.09	0.25279	0.0:0.5765:0.3311:0.0924	.	90;90	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	I	90	ENSP00000367312:R90I;ENSP00000284951:R90I	ENSP00000284951:R90I	R	-	2	0	SEL1L2	13860263	0.629000	0.27146	0.417000	0.26559	0.831000	0.47069	0.303000	0.19210	0.645000	0.30675	0.655000	0.94253	AGA	SEL1L2	-	NULL	ENSG00000101251		0.249	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	109	0.00	0	C	NM_025229		13912263	13912263	-1	no_errors	ENST00000284951	ensembl	human	known	69_37n	missense	105	21.05	28	SNP	0.178	A
SEL1L3	23231	genome.wustl.edu	37	4	25849037	25849037	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:25849037G>A	ENST00000399878.3	-	2	734	c.612C>T	c.(610-612)ctC>ctT	p.L204L	SEL1L3_ENST00000502949.1_Silent_p.L51L|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.L169L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	204						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGGTCTGCAGGAGGGTATAAT	0.458																																						dbGAP											0													96.0	90.0	92.0					4																	25849037		1927	4136	6063	-	-	-	SO:0001819	synonymous_variant	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.612C>T	4.37:g.25849037G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.L204	ENST00000399878.3	37	c.612	CCDS47037.1	4																																																																																			SEL1L3	-	NULL	ENSG00000091490		0.458	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	172	0.00	0	G	NM_015187		25849037	25849037	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	silent	149	10.24	17	SNP	1.000	A
SELP	6403	genome.wustl.edu	37	1	169578790	169578790	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169578790G>A	ENST00000263686.6	-	8	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000458599.2_Missense_Mutation_p.R367W|SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W|SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	429	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TTATCACACCGAACTATATCG	0.488																																						dbGAP											0													167.0	138.0	148.0					1																	169578790		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1285C>T	1.37:g.169578790G>A	ENSP00000263686:p.Arg429Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.R429W	ENST00000263686.6	37	c.1285	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.29|11.29	1.596485|1.596485	0.28445|0.28445	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599|ENST00000446728	T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19|.	5.74|5.74	0.575|0.575	0.17374|0.17374	Complement control module (2);Sushi/SCR/CCP (3);|.	1.962390|.	0.01965|.	N|.	0.043581|.	T|T	0.17152|0.17152	0.0412|0.0412	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	D;B;D|.	0.71674|.	0.997;0.033;0.998|.	P;B;P|.	0.60345|.	0.873;0.015;0.857|.	T|T	0.27739|0.27739	-1.0065|-1.0065	10|5	0.66056|.	D|.	0.02|.	-0.1187|-0.1187	1.0667|1.0667	0.01612|0.01612	0.2603:0.2251:0.3722:0.1424|0.2603:0.2251:0.3722:0.1424	.|.	429;429;429|.	Q6NUL9;P16109;G3V1U2|.	.;LYAM3_HUMAN;.|.	W|L	429;428;367;429;429;367;367;367;367;367;352|366	ENSP00000263686:R429W;ENSP00000356767:R367W;ENSP00000356768:R367W;ENSP00000356766:R367W;ENSP00000356762:R367W;ENSP00000356760:R367W|.	ENSP00000263686:R429W|.	R|S	-|-	1|2	2|0	SELP|SELP	167845414|167845414	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.060000|0.060000	0.15804|0.15804	-0.726000|-0.726000	0.04936|0.04936	0.791000|0.791000	0.33826|0.33826	0.650000|0.650000	0.86243|0.86243	CGG|TCG	SELP	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174175		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	433	0.00	0	G	NM_003005		169578790	169578790	-1	no_errors	ENST00000263686	ensembl	human	known	69_37n	missense	247	15.93	47	SNP	0.000	A
SEMA3D	223117	genome.wustl.edu	37	7	84629132	84629132	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:84629132C>T	ENST00000284136.6	-	17	2001	c.1958G>A	c.(1957-1959)cGa>cAa	p.R653Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	653	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGCAAACTTCGAATCAGTAG	0.398																																					Ovarian(63;442 1191 17318 29975 31528)	dbGAP											0													63.0	56.0	58.0					7																	84629132		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1958G>A	7.37:g.84629132C>T	ENSP00000284136:p.Arg653Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R653Q	ENST00000284136.6	37	c.1958	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.223146	0.95139	.	.	ENSG00000153993	ENST00000284136	T	0.63096	-0.02	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	M	0.74647	2.275	0.80722	D	1	P	0.48834	0.916	B	0.41036	0.346	T	0.72272	-0.4342	10	0.59425	D	0.04	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	653	O95025	SEM3D_HUMAN	Q	653	ENSP00000284136:R653Q	ENSP00000284136:R653Q	R	-	2	0	SEMA3D	84467068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.171000	0.77595	2.756000	0.94617	0.655000	0.94253	CGA	SEMA3D	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000153993		0.398	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	129	0.00	0	C	NM_152754		84629132	84629132	-1	no_errors	ENST00000284136	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	1.000	T
SEMA3E	9723	genome.wustl.edu	37	7	83035376	83035376	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:83035376C>A	ENST00000307792.3	-	8	1281		c.e8-1		SEMA3E_ENST00000427262.1_Splice_Site	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E						axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTACATCATTCTGTGAAAACC	0.378																																						dbGAP											0													117.0	107.0	110.0					7																	83035376		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.814-1G>T	7.37:g.83035376C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1P1|Q75M94|Q75M97	Splice_Site	SNP	-	e8-1	ENST00000307792.3	37	c.814-1	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553511	0.86127	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9001	0.96983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3E	82873312	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.792000	0.85828	2.698000	0.92095	0.650000	0.86243	.	SEMA3E	-	-	ENSG00000170381		0.378	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	290	0.00	0	C	NM_012431	Intron	83035376	83035376	-1	no_errors	ENST00000307792	ensembl	human	known	69_37n	splice_site	154	26.32	55	SNP	1.000	A
SEMA3D	223117	genome.wustl.edu	37	7	84697514	84697514	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:84697514T>C	ENST00000284136.6	-	5	625	c.582A>G	c.(580-582)gtA>gtG	p.V194V	SEMA3D_ENST00000444867.1_Silent_p.V194V	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	194	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TACCTGTCATTACTGAAGCAA	0.353																																					Ovarian(63;442 1191 17318 29975 31528)	dbGAP											0													96.0	93.0	94.0					7																	84697514		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.582A>G	7.37:g.84697514T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.V194	ENST00000284136.6	37	c.582	CCDS34676.1	7																																																																																			SEMA3D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000153993		0.353	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	538	0.00	0	T	NM_152754		84697514	84697514	-1	no_errors	ENST00000284136	ensembl	human	known	69_37n	silent	392	13.08	59	SNP	0.985	C
SEMA3G	56920	genome.wustl.edu	37	3	52469831	52469831	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:52469831G>A	ENST00000231721.2	-	16	2136	c.2137C>T	c.(2137-2139)Ctc>Ttc	p.L713F		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	713					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AAGCCAATGAGCTGCAGGATG	0.667																																						dbGAP											0													70.0	76.0	74.0					3																	52469831		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.2137C>T	3.37:g.52469831G>A	ENSP00000231721:p.Leu713Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L713F	ENST00000231721.2	37	c.2137	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741989	0.69418	.	.	ENSG00000010319	ENST00000231721	T	0.79749	-1.3	4.84	3.94	0.45596	.	0.000000	0.64402	D	0.000002	D	0.89722	0.6797	M	0.84219	2.685	0.44652	D	0.997632	D	0.89917	1.0	D	0.91635	0.999	D	0.91264	0.5039	10	0.87932	D	0	.	14.4304	0.67246	0.0:0.0:0.8515:0.1485	.	713	Q9NS98	SEM3G_HUMAN	F	713	ENSP00000231721:L713F	ENSP00000231721:L713F	L	-	1	0	SEMA3G	52444871	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	6.223000	0.72257	1.226000	0.43582	0.650000	0.86243	CTC	SEMA3G	-	NULL	ENSG00000010319		0.667	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	57	0.00	0	G	NM_020163		52469831	52469831	-1	no_errors	ENST00000231721	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	1.000	A
SEMA4F	10505	genome.wustl.edu	37	2	74885070	74885070	+	Missense_Mutation	SNP	G	G	A	rs200194422		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74885070G>A	ENST00000357877.2	+	4	597	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	150	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCCGAAGTGCGGGGTTATTGT	0.552																																						dbGAP											0													122.0	106.0	111.0					2																	74885070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.448G>A	2.37:g.74885070G>A	ENSP00000350547:p.Gly150Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.G150R	ENST00000357877.2	37	c.448	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293153	0.80914	.	.	ENSG00000135622	ENST00000357877	T	0.09630	2.96	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.225743	0.37483	N	0.002072	T	0.12817	0.0311	N	0.03294	-0.36	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.42932	-0.9422	10	0.40728	T	0.16	.	15.4026	0.74852	0.0:0.0:1.0:0.0	.	150	O95754	SEM4F_HUMAN	R	150	ENSP00000350547:G150R	ENSP00000350547:G150R	G	+	1	0	SEMA4F	74738578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.883000	0.63128	2.722000	0.93159	0.655000	0.94253	GGG	SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000135622		0.552	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	213	0.00	0	G	NM_004263		74885070	74885070	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	missense	192	13.84	31	SNP	1.000	A
SEMA4F	10505	genome.wustl.edu	37	2	74900842	74900842	+	Missense_Mutation	SNP	G	G	A	rs199684823		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74900842G>A	ENST00000357877.2	+	7	858	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	237	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GAGCCCAGCCGAATGGGGGGA	0.562																																						dbGAP											0													72.0	73.0	72.0					2																	74900842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.709G>A	2.37:g.74900842G>A	ENSP00000350547:p.Glu237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.E237K	ENST00000357877.2	37	c.709	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291466	0.23564	.	.	ENSG00000135622	ENST00000357877	T	0.11063	2.81	4.26	3.37	0.38596	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	44.320000	0.00166	N	0.000000	T	0.06554	0.0168	N	0.08118	0	0.19300	N	0.999973	B	0.20780	0.048	B	0.17722	0.019	T	0.33369	-0.9871	10	0.06494	T	0.89	.	9.5549	0.39332	0.0:0.0:0.7904:0.2096	.	237	O95754	SEM4F_HUMAN	K	237	ENSP00000350547:E237K	ENSP00000350547:E237K	E	+	1	0	SEMA4F	74754350	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.733000	0.62036	1.128000	0.42052	0.462000	0.41574	GAA	SEMA4F	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000135622		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	132	0.00	0	G	NM_004263		74900842	74900842	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	0.304	A
SEMA5A	9037	genome.wustl.edu	37	5	9122852	9122852	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:9122852C>T	ENST00000382496.5	-	14	2362	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	566	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGAGCGGGTTCGACAGAGGCA	0.647																																						dbGAP											0													57.0	60.0	59.0					5																	9122852		2203	4299	6502	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1697G>A	5.37:g.9122852C>T	ENSP00000371936:p.Arg566Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.R566Q	ENST00000382496.5	37	c.1697	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414431	0.83449	.	.	ENSG00000112902	ENST00000382496	T	0.48522	0.81	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.88241	2.94	0.80722	D	1	D	0.62365	0.991	P	0.49752	0.621	T	0.70114	-0.4961	10	0.40728	T	0.16	.	16.0463	0.80724	0.0:1.0:0.0:0.0	.	566	Q13591	SEM5A_HUMAN	Q	566	ENSP00000371936:R566Q	ENSP00000371936:R566Q	R	-	2	0	SEMA5A	9175852	1.000000	0.71417	0.402000	0.26371	0.368000	0.29767	7.601000	0.82783	2.457000	0.83068	0.650000	0.86243	CGA	SEMA5A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112902		0.647	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	26	0.00	0	C			9122852	9122852	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.996	T
SEMA5A	9037	genome.wustl.edu	37	5	9224845	9224845	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:9224845C>T	ENST00000382496.5	-	8	1252	c.587G>A	c.(586-588)cGa>cAa	p.R196Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	196	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCTAGGCTTCGGTAAATGGC	0.532																																						dbGAP											0													123.0	103.0	110.0					5																	9224845		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.587G>A	5.37:g.9224845C>T	ENSP00000371936:p.Arg196Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.R196Q	ENST00000382496.5	37	c.587	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068126	0.76301	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.59224	0.28;0.28	5.38	3.62	0.41486	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.057320	0.64402	N	0.000001	T	0.79191	0.4404	M	0.92738	3.34	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.81116	-0.1079	10	0.87932	D	0	.	10.0752	0.42355	0.0:0.8366:0.0:0.1634	.	196	Q13591	SEM5A_HUMAN	Q	196	ENSP00000371936:R196Q;ENSP00000421961:R196Q	ENSP00000371936:R196Q	R	-	2	0	SEMA5A	9277845	1.000000	0.71417	0.222000	0.23844	0.688000	0.40055	5.561000	0.67339	0.667000	0.31107	-0.133000	0.14855	CGA	SEMA5A	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000112902		0.532	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	369	0.00	0	C			9224845	9224845	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	278	16.72	56	SNP	0.980	T
SEMA6A	57556	genome.wustl.edu	37	5	115803401	115803401	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:115803401G>A	ENST00000343348.6	-	18	2559	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S608L|SEMA6A_ENST00000282394.6_Intron|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S18L|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S591L|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	591					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTGAGCCGTCGAATCTGATGT	0.512																																						dbGAP											0													103.0	100.0	101.0					5																	115803401		1983	4161	6144	-	-	-	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1772C>T	5.37:g.115803401G>A	ENSP00000345512:p.Ser591Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2H9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S608L	ENST00000343348.6	37	c.1823	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297660	0.60086	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000510263	T;T;T;T	0.49139	2.27;2.23;0.79;2.27	5.95	5.95	0.96441	.	4.332300	0.00166	N	0.000016	T	0.43344	0.1243	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.20550	0.0;0.0;0.001;0.046	B;B;B;B	0.16722	0.0;0.0;0.001;0.016	T	0.07712	-1.0758	10	0.28530	T	0.3	.	19.9975	0.97389	0.0:0.0:1.0:0.0	.	591;135;608;18	Q9H2E6;Q96SM8;Q9H2E6-2;B3KU01	SEM6A_HUMAN;.;.;.	L	591;608;18;591	ENSP00000345512:S591L;ENSP00000257414:S608L;ENSP00000422997:S18L;ENSP00000424388:S591L	ENSP00000257414:S608L	S	-	2	0	SEMA6A	115831300	1.000000	0.71417	0.868000	0.34077	0.994000	0.84299	7.159000	0.77483	2.827000	0.97445	0.650000	0.86243	TCG	SEMA6A	-	NULL	ENSG00000092421		0.512	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	534	0.00	0	G	NM_020796		115803401	115803401	-1	no_errors	ENST00000257414	ensembl	human	known	69_37n	missense	276	25.60	96	SNP	0.961	A
SEMA6D	80031	genome.wustl.edu	37	15	48052587	48052587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:48052587C>T	ENST00000316364.5	+	3	635	c.196C>T	c.(196-198)Cga>Tga	p.R66*	SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.R66*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.R66*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	66	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTTGAAAATTCGAGACACACT	0.393																																						dbGAP											0													96.0	94.0	95.0					15																	48052587		2198	4297	6495	-	-	-	SO:0001587	stop_gained	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.196C>T	15.37:g.48052587C>T	ENSP00000324857:p.Arg66*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.R66*	ENST00000316364.5	37	c.196	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.909132	0.98557	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	.	.	.	5.76	5.76	0.90799	.	0.256383	0.41097	D	0.000941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9813	0.97326	0.0:1.0:0.0:0.0	.	.	.	.	X	66	.	ENSP00000324857:R66X	R	+	1	2	SEMA6D	45839879	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.644000	0.67902	2.726000	0.93360	0.655000	0.94253	CGA	SEMA6D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000137872		0.393	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	393	0.00	0	C	NM_024966		48052587	48052587	+1	no_errors	ENST00000316364	ensembl	human	known	69_37n	nonsense	235	24.36	76	SNP	1.000	T
SEMG2	6407	genome.wustl.edu	37	20	43850672	43850672	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43850672C>T	ENST00000372769.3	+	2	489	c.399C>T	c.(397-399)ggC>ggT	p.G133G		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	133	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ATAAAGGAGGCCAAGCTCATC	0.388																																						dbGAP											0													103.0	93.0	97.0					20																	43850672		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.399C>T	20.37:g.43850672C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	pfam_Semenogelin	p.G133	ENST00000372769.3	37	c.399	CCDS13346.1	20																																																																																			SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.388	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	245	0.00	0	C	NM_003008		43850672	43850672	+1	no_errors	ENST00000372769	ensembl	human	known	69_37n	silent	171	11.86	23	SNP	0.000	T
SENP2	59343	genome.wustl.edu	37	3	185332508	185332508	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:185332508G>A	ENST00000296257.5	+	11	1330	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	SENP2_ENST00000427465.2_Missense_Mutation_p.D188N|SENP2_ENST00000545472.1_Missense_Mutation_p.D354N	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	364					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)	p.D364N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AAGAACGGACGATCTCCTTGA	0.393																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											103.0	100.0	101.0					3																	185332508		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"""SUMO1/sentrin/SMT3 specific protease 2"""			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1090G>A	3.37:g.185332508G>A	ENSP00000296257:p.Asp364Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D364N	ENST00000296257.5	37	c.1090	CCDS33902.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032491	0.75504	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465;ENST00000444509	T;T;T;T	0.32023	1.86;1.87;1.9;1.47	5.46	5.46	0.80206	.	0.069871	0.53938	D	0.000044	T	0.29945	0.0749	L	0.29908	0.895	0.41359	D	0.987419	D;D	0.67145	0.996;0.996	P;P	0.50490	0.642;0.642	T	0.01198	-1.1421	10	0.25106	T	0.35	-15.1915	12.9077	0.58162	0.0:0.163:0.837:0.0	.	354;364	B4DQ42;Q9HC62	.;SENP2_HUMAN	N	354;364;235;188;71	ENSP00000439653:D354N;ENSP00000296257:D364N;ENSP00000394562:D188N;ENSP00000399201:D71N	ENSP00000296257:D364N	D	+	1	0	SENP2	186815202	0.996000	0.38824	1.000000	0.80357	0.961000	0.63080	3.466000	0.53071	2.734000	0.93682	0.655000	0.94253	GAT	SENP2	-	NULL	ENSG00000163904		0.393	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	291	0.00	0	G	NM_021627		185332508	185332508	+1	no_errors	ENST00000296257	ensembl	human	known	69_37n	missense	253	10.60	30	SNP	1.000	A
SENP6	26054	genome.wustl.edu	37	6	76425110	76425110	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:76425110C>T	ENST00000447266.2	+	24	3617	c.3139C>T	c.(3139-3141)Ctc>Ttc	p.L1047F	SENP6_ENST00000370014.3_Missense_Mutation_p.L1047F|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Missense_Mutation_p.L1040F	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1047	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GAATCCAATTCTCAGTTTTGA	0.308																																						dbGAP											0													97.0	93.0	94.0					6																	76425110		1805	4073	5878	-	-	-	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3139C>T	6.37:g.76425110C>T	ENSP00000402527:p.Leu1047Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L1047F	ENST00000447266.2	37	c.3139	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	C	8.557	0.876874	0.17395	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266	T;T;T	0.28666	1.6;1.6;1.6	5.36	3.55	0.40652	.	0.203167	0.43416	N	0.000572	T	0.15609	0.0376	M	0.64997	1.995	0.80722	D	1	B;B	0.14805	0.009;0.011	B;B	0.24155	0.03;0.051	T	0.04593	-1.0940	10	0.34782	T	0.22	-1.8827	8.4161	0.32672	0.0:0.6818:0.1206:0.1976	.	1040;1047	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	F	1040;1047;1047	ENSP00000359027:L1040F;ENSP00000359031:L1047F;ENSP00000402527:L1047F	ENSP00000359027:L1040F	L	+	1	0	SENP6	76481830	0.986000	0.35501	1.000000	0.80357	0.813000	0.45954	1.068000	0.30629	1.395000	0.46643	0.591000	0.81541	CTC	SENP6	-	pfam_Peptidase_C48	ENSG00000112701		0.308	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	60	0.00	0	C	NM_015571		76425110	76425110	+1	no_errors	ENST00000370014	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	0.998	T
SENP7	57337	genome.wustl.edu	37	3	101056428	101056428	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:101056428T>G	ENST00000394095.2	-	17	2458	c.2405A>C	c.(2404-2406)cAc>cCc	p.H802P	SENP7_ENST00000314261.7_Missense_Mutation_p.H736P|SENP7_ENST00000348610.3_Missense_Mutation_p.H769P|SENP7_ENST00000394094.2_Missense_Mutation_p.H737P|SENP7_ENST00000394091.1_Missense_Mutation_p.H638P|SENP7_ENST00000358203.3_Missense_Mutation_p.H638P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	802	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTAAAAATGTGACTTCGTTC	0.299																																						dbGAP											0													71.0	75.0	74.0					3																	101056428		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2405A>C	3.37:g.101056428T>G	ENSP00000377655:p.His802Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.H802P	ENST00000394095.2	37	c.2405	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158799	0.78226	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	0.999;1.0;1.0;0.995	T	0.79220	-0.1893	10	0.87932	D	0	-7.761	13.9042	0.63823	0.0:0.0:0.0:1.0	.	638;736;769;802	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	P	802;737;736;638;638;769	ENSP00000377655:H802P;ENSP00000377654:H737P;ENSP00000313624:H736P;ENSP00000377651:H638P;ENSP00000350936:H638P;ENSP00000342159:H769P	ENSP00000313624:H736P	H	-	2	0	SENP7	102539118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.842000	0.75379	2.097000	0.63578	0.533000	0.62120	CAC	SENP7	-	pfam_Peptidase_C48,pfscan_Peptidase_C48	ENSG00000138468		0.299	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	298	0.00	0	T	NM_020654		101056428	101056428	-1	no_errors	ENST00000394095	ensembl	human	known	69_37n	missense	202	12.17	28	SNP	1.000	G
SENP7	57337	genome.wustl.edu	37	3	101083788	101083788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:101083788C>A	ENST00000394095.2	-	10	1419	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	SENP7_ENST00000314261.7_Nonsense_Mutation_p.E390*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.E423*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.E391*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.E292*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.E292*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	456						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTAAGAATTTCTGAACTTTTA	0.289																																						dbGAP											0													94.0	90.0	92.0					3																	101083788		2202	4297	6499	-	-	-	SO:0001587	stop_gained	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1366G>T	3.37:g.101083788C>A	ENSP00000377655:p.Glu456*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.E456*	ENST00000394095.2	37	c.1366	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813188	0.90707	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.57	4.7	0.59300	.	0.804206	0.11530	N	0.554756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-0.1605	8.5062	0.33188	0.0:0.8257:0.0:0.1743	.	.	.	.	X	456;391;390;292;292;423	.	ENSP00000313624:E390X	E	-	1	0	SENP7	102566478	1.000000	0.71417	0.947000	0.38551	0.713000	0.41058	1.892000	0.39748	1.365000	0.46057	0.650000	0.86243	GAA	SENP7	-	NULL	ENSG00000138468		0.289	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	146	0.00	0	C	NM_020654		101083788	101083788	-1	no_errors	ENST00000394095	ensembl	human	known	69_37n	nonsense	98	23.44	30	SNP	0.859	A
SEPT2	4735	genome.wustl.edu	37	2	242265527	242265527	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:242265527C>T	ENST00000391973.2	+	3	657	c.129C>T	c.(127-129)gtC>gtT	p.V43V	SEPT2_ENST00000360051.3_Splice_Site_p.V43V|SEPT2_ENST00000402092.2_Splice_Site_p.V43V|SEPT2_ENST00000401990.1_Splice_Site_p.V43V|SEPT2_ENST00000407971.1_Splice_Site_p.V3V|SEPT2_ENST00000391971.2_Splice_Site_p.V43V	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	43	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TGATGGTGGTCGGTAAGAAAT	0.368																																						dbGAP											0													68.0	67.0	67.0					2																	242265527		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.130+1C>T	2.37:g.242265527C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Silent	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2	p.V43	ENST00000391973.2	37	c.129	CCDS2548.1	2																																																																																			SEPT2	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000168385		0.368	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	208	0.00	0	C	NM_006155	Silent	242265527	242265527	+1	no_errors	ENST00000360051	ensembl	human	known	69_37n	silent	167	21.60	46	SNP	0.384	T
SEPT4	5414	genome.wustl.edu	37	17	56604083	56604083	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:56604083C>T	ENST00000317268.3	-	2	493	c.317G>A	c.(316-318)cGc>cAc	p.R106H	SEPT4_ENST00000412945.3_Missense_Mutation_p.R98H|SEPT4_ENST00000457347.2_Missense_Mutation_p.R121H|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.R87H|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_5'UTR|SEPT4_ENST00000317256.6_Missense_Mutation_p.R87H|SEPT4_ENST00000580791.1_5'UTR|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.R87H|RP11-112H10.4_ENST00000580589.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	106					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATGGGCTGCGGGGCCTGGC	0.632																																						dbGAP											0													33.0	41.0	38.0					17																	56604083		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.317G>A	17.37:g.56604083C>T	ENSP00000321674:p.Arg106His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.R121H	ENST00000317268.3	37	c.362	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360856	0.61403	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.66460	0.61;0.63;0.61;0.63;-0.21	5.01	5.01	0.66863	.	0.737822	0.11918	N	0.516984	T	0.71896	0.3394	L	0.29908	0.895	0.34398	D	0.694945	D;D;D;D;D	0.89917	0.995;0.997;1.0;0.986;0.974	P;P;D;P;P	0.83275	0.635;0.855;0.996;0.541;0.499	T	0.75300	-0.3366	10	0.72032	D	0.01	.	9.4414	0.38670	0.0:0.903:0.0:0.097	.	98;121;87;87;106	O43236-3;O43236-4;O43236-6;O43236-2;O43236	.;.;.;.;SEPT4_HUMAN	H	98;120;87;106;87;87	ENSP00000414779:R98H;ENSP00000321071:R87H;ENSP00000321674:R106H;ENSP00000376801:R87H;ENSP00000402348:R87H	ENSP00000321071:R87H	R	-	2	0	SEPT4	53959082	0.927000	0.31430	1.000000	0.80357	0.978000	0.69477	2.047000	0.41269	2.339000	0.79563	0.561000	0.74099	CGC	SEPT4	-	NULL	ENSG00000108387		0.632	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1	38	0.00	0	C	NM_080417		56604083	56604083	-1	no_errors	ENST00000457347	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	T
SERAC1	84947	genome.wustl.edu	37	6	158567853	158567853	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:158567853C>T	ENST00000367104.3	-	6	579	c.448G>A	c.(448-450)Gag>Aag	p.E150K	SERAC1_ENST00000607000.1_Missense_Mutation_p.E150K|SERAC1_ENST00000367102.2_Missense_Mutation_p.E150K|SERAC1_ENST00000367101.1_Missense_Mutation_p.E150K	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	150					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGCACAGCCTCGAGTCGCGTG	0.483																																						dbGAP											0													214.0	188.0	197.0					6																	158567853		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.448G>A	6.37:g.158567853C>T	ENSP00000356071:p.Glu150Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	pfam_PGAP1-like,superfamily_ARM-type_fold	p.E150K	ENST00000367104.3	37	c.448	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	C	0.492	-0.874894	0.02550	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.39056	1.1;1.1;1.1	5.66	3.87	0.44632	Armadillo-like helical (1);	0.276616	0.41823	D	0.000811	T	0.04588	0.0125	N	0.03608	-0.345	0.25742	N	0.98515	B	0.14012	0.009	B	0.08055	0.003	T	0.42816	-0.9429	10	0.02654	T	1	-10.8481	8.4854	0.33067	0.0:0.2065:0.5992:0.1943	.	150	Q96JX3	SRAC1_HUMAN	K	150	ENSP00000356069:E150K;ENSP00000356071:E150K;ENSP00000356068:E150K	ENSP00000356068:E150K	E	-	1	0	SERAC1	158487841	1.000000	0.71417	0.963000	0.40424	0.005000	0.04900	2.445000	0.44899	0.756000	0.33013	-1.412000	0.01120	GAG	SERAC1	-	NULL	ENSG00000122335		0.483	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	231	0.00	0	C	NM_032861		158567853	158567853	-1	no_errors	ENST00000367104	ensembl	human	known	69_37n	missense	112	19.86	28	SNP	0.951	T
SERGEF	26297	genome.wustl.edu	37	11	17981062	17981062	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:17981062C>T	ENST00000265965.5	-	9	1117	c.966G>A	c.(964-966)ccG>ccA	p.P322P	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	322					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						GCATGCTGTTCGGTGGTCTTG	0.478																																						dbGAP											0													110.0	105.0	107.0					11																	17981062		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.966G>A	11.37:g.17981062C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UGK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R186Q	ENST00000265965.5	37	c.557	CCDS7828.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.23|10.23	1.292788|1.292788	0.23564|0.23564	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000533241|ENST00000529151	.|.	.|.	.|.	6.08|6.08	4.21|4.21	0.49690|0.49690	.|.	.|.	.|.	.|.	.|.	T|T	0.36663|0.36663	0.0975|0.0975	.|.	.|.	.|.	0.19775|0.19775	N|N	0.99996|0.99996	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.20371|0.20371	-1.0277|-1.0277	4|4	.|.	.|.	.|.	21.8301|21.8301	8.6194|8.6194	0.33851|0.33851	0.0:0.8315:0.0:0.1685|0.0:0.8315:0.0:0.1685	.|.	.|.	.|.	.|.	K|Q	95|186	.|.	.|.	E|R	-|-	1|2	0|0	SERGEF|SERGEF	17937638|17937638	0.000000|0.000000	0.05858|0.05858	0.214000|0.214000	0.23707|0.23707	0.553000|0.553000	0.35397|0.35397	0.387000|0.387000	0.20718|0.20718	1.590000|1.590000	0.49995|0.49995	0.655000|0.655000	0.94253|0.94253	GAA|CGA	SERGEF	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000129158		0.478	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERGEF	HGNC	protein_coding	OTTHUMT00000389538.1	205	0.00	0	C	NM_012139		17981062	17981062	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000529151	ensembl	human	putative	69_37n	missense	172	26.81	63	SNP	0.008	T
SERINC4	619189	genome.wustl.edu	37	15	44087639	44087639	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:44087639G>A	ENST00000319327.6	-	11	1524	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	SERINC4_ENST00000249714.3_Silent_p.F186F|SERINC4_ENST00000299969.6_Missense_Mutation_p.S356L|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_3'UTR|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	430					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGAAGAAGACGAAGTGGAAGG	0.517																																						dbGAP											0													154.0	134.0	141.0					15																	44087639		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1290C>T	15.37:g.44087639G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN41|Q3YL75	Missense_Mutation	SNP	pfam_TMS_TDE	p.S356L	ENST00000319327.6	37	c.1067	CCDS58360.1	15	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212241	0.39102	.	.	ENSG00000184716	ENST00000299969	T	0.28454	1.61	5.71	-6.92	0.01644	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.58432	D	0.999999	B	0.12013	0.005	B	0.04013	0.001	T	0.03684	-1.1013	8	0.59425	D	0.04	-18.1033	19.1016	0.93276	0.7694:0.0:0.2306:0.0	.	356	A6NM42	.	L	356	ENSP00000299969:S356L	ENSP00000299969:S356L	S	-	2	0	SERINC4	41874931	0.004000	0.15560	0.365000	0.25901	0.832000	0.47134	-1.115000	0.03289	-1.594000	0.01615	-0.768000	0.03414	TCG	SERINC4	-	NULL	ENSG00000184716		0.517	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SERINC4	HGNC	protein_coding	OTTHUMT00000133485.2	154	0.00	0	G			44087639	44087639	-1	no_errors	ENST00000299969	ensembl	human	novel	69_37n	missense	119	14.39	20	SNP	0.150	A
SERPINA1	5265	genome.wustl.edu	37	14	94848936	94848936	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:94848936G>A	ENST00000448921.1	-	4	1211	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SERPINA1_ENST00000355814.4_Silent_p.F213F|SERPINA1_ENST00000393088.4_Silent_p.F213F|SERPINA1_ENST00000437397.1_Silent_p.F213F|SERPINA1_ENST00000449399.3_Silent_p.F213F|SERPINA1_ENST00000393087.4_Silent_p.F213F|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000404814.4_Silent_p.F213F|SERPINA1_ENST00000402629.1_Silent_p.F213F|SERPINA1_ENST00000440909.1_Silent_p.F213F	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	213					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TACCTTTAAAGAAGATGTAAT	0.413																																						dbGAP											0													97.0	100.0	99.0					14																	94848936		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.639C>T	14.37:g.94848936G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.F213	ENST00000448921.1	37	c.639	CCDS9925.1	14																																																																																			SERPINA1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000197249		0.413	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	99	0.00	0	G	NM_001002235		94848936	94848936	-1	no_errors	ENST00000355814	ensembl	human	known	69_37n	silent	70	27.84	27	SNP	0.703	A
SERPINA12	145264	genome.wustl.edu	37	14	94956041	94956041	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:94956041G>A	ENST00000341228.2	-	5	1764	c.969C>T	c.(967-969)ctC>ctT	p.L323L	SERPINA12_ENST00000556881.1_Silent_p.L323L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	323					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CTATGTAGGAGAGAGTCTTCT	0.542																																						dbGAP											0													137.0	110.0	119.0					14																	94956041		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.969C>T	14.37:g.94956041G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L323	ENST00000341228.2	37	c.969	CCDS9926.1	14																																																																																			SERPINA12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000165953		0.542	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	264	0.00	0	G	NM_173850		94956041	94956041	-1	no_errors	ENST00000341228	ensembl	human	known	69_37n	silent	258	13.04	39	SNP	0.000	A
SERPINA4	5267	genome.wustl.edu	37	14	95033426	95033426	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:95033426C>A	ENST00000557004.1	+	3	1190	c.769C>A	c.(769-771)Cat>Aat	p.H257N	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.H257N|SERPINA4_ENST00000555095.1_Missense_Mutation_p.H257N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	257					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGGTATCTTCATGACAGATA	0.488																																						dbGAP											0													115.0	99.0	105.0					14																	95033426		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.769C>A	14.37:g.95033426C>A	ENSP00000450838:p.His257Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.H257N	ENST00000557004.1	37	c.769	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	C	9.550	1.115781	0.20795	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.83673	-1.75;-1.75;-1.75	4.56	-0.458	0.12182	Serpin domain (3);	0.791334	0.10745	N	0.638950	T	0.69223	0.3087	L	0.37800	1.135	0.09310	N	1	B;B	0.15719	0.005;0.014	B;B	0.19148	0.02;0.024	T	0.55159	-0.8184	10	0.39692	T	0.17	.	0.7303	0.00956	0.3864:0.2483:0.21:0.1553	.	257;257	B2R815;P29622	.;KAIN_HUMAN	N	257	ENSP00000450838:H257N;ENSP00000451172:H257N;ENSP00000298841:H257N	ENSP00000298841:H257N	H	+	1	0	SERPINA4	94103179	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.419000	0.21247	0.059000	0.16252	0.561000	0.74099	CAT	SERPINA4	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000100665		0.488	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	146	0.00	0	C	NM_006215		95033426	95033426	+1	no_errors	ENST00000298841	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	0.000	A
SERPINA4	5267	genome.wustl.edu	37	14	95033487	95033487	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:95033487T>G	ENST00000557004.1	+	3	1251	c.830T>G	c.(829-831)tTt>tGt	p.F277C	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.F277C|SERPINA4_ENST00000555095.1_Missense_Mutation_p.F277C			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	277					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCAACCGTGTTTTTCATTCTC	0.483																																						dbGAP											0													111.0	103.0	106.0					14																	95033487		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.830T>G	14.37:g.95033487T>G	ENSP00000450838:p.Phe277Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.F277C	ENST00000557004.1	37	c.830	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661619	0.47572	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84730	-1.89;-1.89;-1.89	4.45	4.45	0.53987	Serpin domain (3);	0.496053	0.17719	N	0.164310	D	0.92378	0.7581	M	0.84433	2.695	0.80722	D	1	D;P	0.76494	0.999;0.759	D;P	0.73708	0.981;0.604	D	0.92969	0.6396	10	0.66056	D	0.02	.	13.2156	0.59859	0.0:0.0:0.0:1.0	.	277;277	B2R815;P29622	.;KAIN_HUMAN	C	277	ENSP00000450838:F277C;ENSP00000451172:F277C;ENSP00000298841:F277C	ENSP00000298841:F277C	F	+	2	0	SERPINA4	94103240	0.757000	0.28394	0.022000	0.16811	0.018000	0.09664	5.298000	0.65710	1.769000	0.52152	0.459000	0.35465	TTT	SERPINA4	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000100665		0.483	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	188	0.00	0	T	NM_006215		95033487	95033487	+1	no_errors	ENST00000298841	ensembl	human	known	69_37n	missense	123	15.75	23	SNP	0.674	G
SERPINA7	6906	genome.wustl.edu	37	X	105280612	105280612	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:105280612G>T	ENST00000327674.4	-	1	773	c.438C>A	c.(436-438)ttC>ttA	p.F146L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.F146L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	146					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CATCATTCAAGAACTTTGCCA	0.433																																						dbGAP											0													169.0	162.0	164.0					X																	105280612		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.438C>A	X.37:g.105280612G>T	ENSP00000329374:p.Phe146Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUX1	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.F146L	ENST00000327674.4	37	c.438	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604275	0.28534	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.94184	-3.37;-3.37	4.7	-1.61	0.08399	Serpin domain (3);	0.077505	0.56097	D	0.000040	D	0.96473	0.8849	H	0.97340	3.985	0.31891	N	0.617167	D	0.55800	0.973	D	0.63113	0.911	D	0.92689	0.6165	10	0.72032	D	0.01	.	3.7553	0.08582	0.3399:0.0:0.3931:0.267	.	146	P05543	THBG_HUMAN	L	146	ENSP00000329374:F146L;ENSP00000361644:F146L	ENSP00000329374:F146L	F	-	3	2	SERPINA7	105167268	0.790000	0.28787	0.275000	0.24674	0.041000	0.13682	0.075000	0.14686	-0.674000	0.05253	-0.199000	0.12753	TTC	SERPINA7	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000123561		0.433	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	365	0.00	0	G	NM_000354		105280612	105280612	-1	no_errors	ENST00000327674	ensembl	human	known	69_37n	missense	228	10.94	28	SNP	0.902	T
SERPINB4	6318	genome.wustl.edu	37	18	61305018	61305018	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:61305018G>T	ENST00000341074.5	-	8	1223	c.1108C>A	c.(1108-1110)Cta>Ata	p.L370I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.L318I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	370					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATGAAGAATAGGAAAGGGTGA	0.423																																						dbGAP											0													172.0	165.0	167.0					18																	61305018		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1108C>A	18.37:g.61305018G>T	ENSP00000343445:p.Leu370Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K847	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.L370I	ENST00000341074.5	37	c.1108	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339743	0.41398	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.86230	-2.09;-2.09	4.43	0.262	0.15597	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.259629	0.20271	N	0.095648	D	0.88325	0.6406	L	0.60067	1.865	0.27210	N	0.959932	D;D;D	0.59767	0.965;0.982;0.986	D;D;D	0.71870	0.955;0.975;0.913	T	0.78155	-0.2314	10	0.48119	T	0.1	.	3.0527	0.06174	0.1557:0.1409:0.5583:0.1451	.	370;370;349	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	370;318	ENSP00000343445:L370I;ENSP00000348795:L318I	ENSP00000343445:L370I	L	-	1	2	SERPINB4	59455998	0.761000	0.28439	0.809000	0.32408	0.443000	0.32047	0.084000	0.14891	-0.070000	0.12908	0.609000	0.83330	CTA	SERPINB4	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000206073		0.423	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	HGNC	protein_coding	OTTHUMT00000133794.2	412	0.00	0	G	NM_175041		61305018	61305018	-1	no_errors	ENST00000341074	ensembl	human	known	69_37n	missense	239	13.09	36	SNP	0.993	T
SERPINB7	8710	genome.wustl.edu	37	18	61463518	61463518	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:61463518G>A	ENST00000398019.2	+	5	680	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	SERPINB7_ENST00000540675.1_Missense_Mutation_p.E102K|SERPINB7_ENST00000336429.2_Missense_Mutation_p.E119K|SERPINB7_ENST00000546027.1_Missense_Mutation_p.E119K	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	119					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E119*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TGAGTGTGCCGAAAAATTATA	0.308																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											77.0	77.0	77.0					18																	61463518		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.355G>A	18.37:g.61463518G>A	ENSP00000381101:p.Glu119Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.E119K	ENST00000398019.2	37	c.355	CCDS11988.1	18	.	.	.	.	.	.	.	.	.	.	G	6.753	0.507726	0.12883	.	.	ENSG00000166396	ENST00000425392;ENST00000336429;ENST00000398019;ENST00000540675;ENST00000447428;ENST00000546027;ENST00000431370	D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.56	-0.441	0.12257	Serpin domain (3);	0.519798	0.17727	N	0.164006	T	0.57592	0.2064	N	0.11154	0.105	0.24510	N	0.994213	B;B	0.14012	0.007;0.009	B;B	0.12837	0.004;0.008	T	0.48305	-0.9047	10	0.02654	T	1	.	5.8222	0.18534	0.4304:0.2357:0.3339:0.0	.	102;119	F5GZC0;O75635	.;SPB7_HUMAN	K	119;119;119;102;119;119;119	ENSP00000397301:E119K;ENSP00000337212:E119K;ENSP00000381101:E119K;ENSP00000444572:E102K;ENSP00000402362:E119K;ENSP00000444861:E119K;ENSP00000393947:E119K	ENSP00000337212:E119K	E	+	1	0	SERPINB7	59614498	0.011000	0.17503	0.543000	0.28128	0.027000	0.11550	0.050000	0.14120	-0.308000	0.08792	-1.825000	0.00597	GAA	SERPINB7	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166396		0.308	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB7	HGNC	protein_coding	OTTHUMT00000134007.1	204	0.00	0	G	NM_003784		61463518	61463518	+1	no_errors	ENST00000336429	ensembl	human	known	69_37n	missense	131	29.19	54	SNP	0.608	A
SERPINB7	8710	genome.wustl.edu	37	18	61468152	61468152	+	Missense_Mutation	SNP	C	C	T	rs534014297	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:61468152C>T	ENST00000398019.2	+	7	975	c.650C>T	c.(649-651)tCt>tTt	p.S217F	SERPINB7_ENST00000540675.1_Missense_Mutation_p.S200F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.S217F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.S217F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	217					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTCAATTTGTCTGTTATTGAG	0.418																																						dbGAP											0													192.0	169.0	177.0					18																	61468152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.650C>T	18.37:g.61468152C>T	ENSP00000381101:p.Ser217Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.S217F	ENST00000398019.2	37	c.650	CCDS11988.1	18	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134883	0.56828	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.1	5.1	0.69264	Serpin domain (3);	0.242522	0.29537	N	0.011874	D	0.87509	0.6195	L	0.37750	1.13	0.35090	D	0.764254	D;D	0.62365	0.989;0.991	P;D	0.64877	0.885;0.93	D	0.89005	0.3424	10	0.33940	T	0.23	.	15.6138	0.76748	0.0:1.0:0.0:0.0	.	200;217	F5GZC0;O75635	.;SPB7_HUMAN	F	217;217;200;217	ENSP00000337212:S217F;ENSP00000381101:S217F;ENSP00000444572:S200F;ENSP00000444861:S217F	ENSP00000337212:S217F	S	+	2	0	SERPINB7	59619132	0.766000	0.28496	0.981000	0.43875	0.363000	0.29612	1.935000	0.40173	2.531000	0.85337	0.650000	0.86243	TCT	SERPINB7	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166396		0.418	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB7	HGNC	protein_coding	OTTHUMT00000134007.1	189	0.00	0	C	NM_003784		61468152	61468152	+1	no_errors	ENST00000336429	ensembl	human	known	69_37n	missense	104	26.76	38	SNP	0.995	T
SERPINE2	5270	genome.wustl.edu	37	2	224866465	224866465	+	Silent	SNP	G	G	A	rs3795875		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:224866465G>A	ENST00000258405.4	-	2	395	c.153C>T	c.(151-153)atC>atT	p.I51I	SERPINE2_ENST00000447280.2_Silent_p.I63I|SERPINE2_ENST00000409840.3_Silent_p.I51I|SERPINE2_ENST00000409304.1_Silent_p.I51I	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	51			I -> M (in dbSNP:rs3795875).		blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16824	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													119.0	112.0	114.0					2																	224866465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.153C>T	2.37:g.224866465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.I51	ENST00000258405.4	37	c.153	CCDS2460.1	2																																																																																			SERPINE2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000135919		0.567	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	HGNC	protein_coding	OTTHUMT00000256865.2	260	0.00	0	G	NM_006216		224866465	224866465	-1	no_errors	ENST00000258405	ensembl	human	known	69_37n	silent	195	20.41	50	SNP	0.095	A
SERPINF1	5176	genome.wustl.edu	37	17	1674335	1674335	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:1674335G>A	ENST00000254722.4	+	4	459	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	99					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCGGAGCAGCGAACAGAATCC	0.542																																						dbGAP											0													135.0	132.0	133.0					17																	1674335		2203	4300	6503	-	-	-	SO:0001583	missense	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.296G>A	17.37:g.1674335G>A	ENSP00000254722:p.Arg99Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.R99Q	ENST00000254722.4	37	c.296	CCDS11012.1	17	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143205	0.37825	.	.	ENSG00000132386	ENST00000254722	T	0.35789	1.29	5.21	3.1	0.35709	Serpin domain (3);	0.374484	0.28236	N	0.016089	T	0.20981	0.0505	L	0.39397	1.21	0.80722	D	1	P	0.37731	0.607	B	0.22880	0.042	T	0.05699	-1.0869	10	0.13470	T	0.59	.	11.0752	0.48027	0.1607:0.0:0.8393:0.0	.	99	P36955	PEDF_HUMAN	Q	99	ENSP00000254722:R99Q	ENSP00000254722:R99Q	R	+	2	0	SERPINF1	1621085	1.000000	0.71417	0.990000	0.47175	0.435000	0.31806	3.070000	0.50033	1.105000	0.41606	-0.355000	0.07637	CGA	SERPINF1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000132386		0.542	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4	124	0.00	0	G	NM_002615		1674335	1674335	+1	no_errors	ENST00000254722	ensembl	human	known	69_37n	missense	43	31.75	20	SNP	0.823	A
SERPINI2	5276	genome.wustl.edu	37	3	167170822	167170822	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:167170822C>A	ENST00000476257.1	-	7	1165		c.e7-1		SERPINI2_ENST00000461846.1_Splice_Site|SERPINI2_ENST00000264677.4_Splice_Site|SERPINI2_ENST00000471111.1_Splice_Site			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2						cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TACTTTAAATCTGTTATTAAA	0.299																																						dbGAP											0													39.0	37.0	37.0					3																	167170822		2202	4295	6497	-	-	-	SO:0001630	splice_region_variant	0			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.867-1G>T	3.37:g.167170822C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e5-1	ENST00000476257.1	37	c.867-1	CCDS3200.1	3	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961321	0.53400	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2064	0.86920	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINI2	168653516	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	4.440000	0.59975	2.724000	0.93272	0.563000	0.77884	.	SERPINI2	-	-	ENSG00000114204		0.299	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINI2	HGNC	protein_coding	OTTHUMT00000350450.1	165	0.00	0	C	NM_006217	Intron	167170822	167170822	-1	no_errors	ENST00000264677	ensembl	human	known	69_37n	splice_site	132	12.58	19	SNP	1.000	A
SESN3	143686	genome.wustl.edu	37	11	94922994	94922994	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:94922994A>C	ENST00000536441.1	-	4	810	c.474T>G	c.(472-474)atT>atG	p.I158M	RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000537480.1_5'Flank|SESN3_ENST00000393234.1_Missense_Mutation_p.I158M|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Intron|SESN3_ENST00000416495.2_Missense_Mutation_p.I158M	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	158					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GCAGCTTATTAATTTCATTAA	0.348																																						dbGAP											0													108.0	105.0	106.0					11																	94922994		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.474T>G	11.37:g.94922994A>C	ENSP00000441927:p.Ile158Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7P9|Q96AD1	Missense_Mutation	SNP	pfam_PA26	p.I158M	ENST00000536441.1	37	c.474	CCDS8303.1	11	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962601	0.53400	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.26067	1.76;1.76;1.76	5.78	1.82	0.25136	.	0.051489	0.64402	D	0.000001	T	0.37625	0.1010	L	0.61218	1.895	0.54753	D	0.999989	D;P	0.57571	0.98;0.94	P;P	0.59546	0.748;0.859	T	0.05767	-1.0865	10	0.56958	D	0.05	-9.4921	6.9763	0.24677	0.2712:0.0:0.3936:0.3352	.	158;158	P58005-3;P58005	.;SESN3_HUMAN	M	158	ENSP00000441927:I158M;ENSP00000376926:I158M;ENSP00000407008:I158M	ENSP00000376926:I158M	I	-	3	3	SESN3	94562642	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	0.630000	0.24553	0.009000	0.14813	-0.490000	0.04691	ATT	SESN3	-	pfam_PA26	ENSG00000149212		0.348	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN3	HGNC	protein_coding	OTTHUMT00000396475.3	337	0.00	0	A	NM_144665		94922994	94922994	-1	no_errors	ENST00000536441	ensembl	human	known	69_37n	missense	188	10.90	23	SNP	0.999	C
SESTD1	91404	genome.wustl.edu	37	2	179989132	179989132	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179989132G>T	ENST00000428443.3	-	11	1442	c.1126C>A	c.(1126-1128)Ctc>Atc	p.L376I	snoU13_ENST00000459087.1_RNA	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	376							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTGTAAGAGATTTTGCCTA	0.403																																						dbGAP											0													101.0	96.0	98.0					2																	179989132		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1126C>A	2.37:g.179989132G>T	ENSP00000415332:p.Leu376Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L376I	ENST00000428443.3	37	c.1126	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069884	0.36566	.	.	ENSG00000187231	ENST00000428443	T	0.08008	3.14	4.71	4.71	0.59529	.	0.062989	0.64402	D	0.000005	T	0.06917	0.0176	N	0.19112	0.55	0.51012	D	0.999904	B	0.21452	0.056	B	0.18561	0.022	T	0.38001	-0.9681	9	.	.	.	-5.189	17.9976	0.89188	0.0:0.0:1.0:0.0	.	376	Q86VW0	SESD1_HUMAN	I	376	ENSP00000415332:L376I	.	L	-	1	0	SESTD1	179697377	1.000000	0.71417	0.969000	0.41365	0.972000	0.66771	5.191000	0.65110	2.319000	0.78375	0.467000	0.42956	CTC	SESTD1	-	NULL	ENSG00000187231		0.403	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	410	0.73	3	G	NM_178123		179989132	179989132	-1	no_errors	ENST00000428443	ensembl	human	known	69_37n	missense	205	28.07	80	SNP	1.000	T
SETBP1	26040	genome.wustl.edu	37	18	42532520	42532520	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:42532520C>A	ENST00000282030.5	+	4	3511	c.3215C>A	c.(3214-3216)cCt>cAt	p.P1072H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1072						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TACCCAGCTCCTTTGTACCTA	0.498									Schinzel-Giedion syndrome																													dbGAP											0													117.0	97.0	104.0					18																	42532520		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3215C>A	18.37:g.42532520C>A	ENSP00000282030:p.Pro1072His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.P1072H	ENST00000282030.5	37	c.3215	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	17.29	3.350906	0.61183	.	.	ENSG00000152217	ENST00000282030	D	0.90324	-2.65	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	N	0.24115	0.695	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.93401	0.6760	10	0.87932	D	0	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	1072	Q9Y6X0	SETBP_HUMAN	H	1072	ENSP00000282030:P1072H	ENSP00000282030:P1072H	P	+	2	0	SETBP1	40786518	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	4.693000	0.61753	2.750000	0.94351	0.561000	0.74099	CCT	SETBP1	-	NULL	ENSG00000152217		0.498	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	199	0.50	1	C	NM_001130110		42532520	42532520	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	missense	140	15.66	26	SNP	1.000	A
SETBP1	26040	genome.wustl.edu	37	18	42533106	42533106	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:42533106C>T	ENST00000282030.5	+	4	4097	c.3801C>T	c.(3799-3801)ggC>ggT	p.G1267G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1267						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTGGCAGTGGCGGGGATGGTG	0.527									Schinzel-Giedion syndrome																													dbGAP											0													88.0	81.0	83.0					18																	42533106		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3801C>T	18.37:g.42533106C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.G1267	ENST00000282030.5	37	c.3801	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.527	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	312	0.32	1	C	NM_001130110		42533106	42533106	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	silent	198	16.32	39	SNP	0.000	T
SETBP1	26040	genome.wustl.edu	37	18	42643264	42643264	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:42643264C>T	ENST00000282030.5	+	6	4688	c.4392C>T	c.(4390-4392)ttC>ttT	p.F1464F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1464						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCACCCAGTTCGATGAGGACT	0.582									Schinzel-Giedion syndrome																													dbGAP											0													31.0	28.0	29.0					18																	42643264		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4392C>T	18.37:g.42643264C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	smart_AT_hook_DNA-bd_motif	p.F1464	ENST00000282030.5	37	c.4392	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.582	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	75	0.00	0	C	NM_001130110		42643264	42643264	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47108598	47108598	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:47108598C>T	ENST00000409792.3	-	13	6113	c.6071G>A	c.(6070-6072)cGa>cAa	p.R2024Q	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2024					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1521P(1)|p.R2024P(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTGGAATTCGATATACCTC	0.358			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	endometrium(2)											154.0	156.0	155.0					3																	47108598		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6071G>A	3.37:g.47108598C>T	ENSP00000386759:p.Arg2024Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.R2024Q	ENST00000409792.3	37	c.6071	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	33	5.262549	0.95399	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23754	1.89	4.61	4.61	0.57282	.	0.000000	0.41294	D	0.000904	T	0.48892	0.1525	L	0.59436	1.845	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.49418	-0.8942	10	0.62326	D	0.03	.	18.0032	0.89203	0.0:1.0:0.0:0.0	.	2024;2024	F2Z317;Q9BYW2	.;SETD2_HUMAN	Q	2024	ENSP00000386759:R2024Q	ENSP00000386759:R2024Q	R	-	2	0	SETD2	47083602	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.791000	0.75120	2.552000	0.86080	0.563000	0.77884	CGA	SETD2	-	NULL	ENSG00000181555		0.358	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	507	0.00	0	C	NM_014159		47108598	47108598	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	418	11.63	55	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47162413	47162413	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:47162413G>T	ENST00000409792.3	-	3	3755	c.3713C>A	c.(3712-3714)tCt>tAt	p.S1238Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1238					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACAAGAGGAAGAAAAACTCAA	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													111.0	112.0	112.0					3																	47162413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3713C>A	3.37:g.47162413G>T	ENSP00000386759:p.Ser1238Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1238Y	ENST00000409792.3	37	c.3713	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052264	0.36181	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89552	-2.53;1.35	5.28	3.46	0.39613	.	0.212694	0.33572	N	0.004770	T	0.80065	0.4555	N	0.24115	0.695	0.31709	N	0.639807	P;P	0.35383	0.498;0.498	B;B	0.31191	0.125;0.125	D	0.83390	0.0017	10	0.87932	D	0	.	12.0435	0.53466	0.1423:0.0:0.8577:0.0	.	1238;1238	F2Z317;Q9BYW2	.;SETD2_HUMAN	Y	1238;1238;1238;1194	ENSP00000386759:S1238Y;ENSP00000416401:S1194Y	ENSP00000386759:S1238Y	S	-	2	0	SETD2	47137417	1.000000	0.71417	0.998000	0.56505	0.425000	0.31504	4.771000	0.62318	1.474000	0.48178	0.655000	0.94253	TCT	SETD2	-	NULL	ENSG00000181555		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	97	0.00	0	G	NM_014159		47162413	47162413	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	98	14.04	16	SNP	0.991	T
SETD3	84193	genome.wustl.edu	37	14	99925516	99925516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:99925516C>A	ENST00000331768.5	-	5	511	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	SETD3_ENST00000436070.2_Nonsense_Mutation_p.E118*|SETD3_ENST00000329331.3_Nonsense_Mutation_p.E118*|SETD3_ENST00000453938.1_5'UTR	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	118	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AAAAACAATTCTTCTGCCTAG	0.363																																						dbGAP											0													90.0	95.0	93.0					14																	99925516		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.352G>T	14.37:g.99925516C>A	ENSP00000327436:p.Glu118*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Nonsense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.E118*	ENST00000331768.5	37	c.352	CCDS9951.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.560880	0.97663	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.2333	19.4817	0.95013	0.0:1.0:0.0:0.0	.	.	.	.	X	118	.	ENSP00000327910:E118X	E	-	1	0	SETD3	98995269	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.719000	0.84751	2.673000	0.90976	0.557000	0.71058	GAA	SETD3	-	pfam_SET_dom	ENSG00000183576		0.363	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	268	0.00	0	C	NM_032233		99925516	99925516	-1	no_errors	ENST00000331768	ensembl	human	known	69_37n	nonsense	220	15.71	41	SNP	1.000	A
SETD3	84193	genome.wustl.edu	37	14	99932119	99932119	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:99932119T>G	ENST00000331768.5	-	2	183	c.24A>C	c.(22-24)aaA>aaC	p.K8N	SETD3_ENST00000436070.2_Missense_Mutation_p.K8N|SETD3_ENST00000329331.3_Missense_Mutation_p.K8N|SETD3_ENST00000453938.1_5'UTR	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	8					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTCTGAGTTTTTACTCGAC	0.398																																						dbGAP											0													149.0	140.0	143.0					14																	99932119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.24A>C	14.37:g.99932119T>G	ENSP00000327436:p.Lys8Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.K8N	ENST00000331768.5	37	c.24	CCDS9951.1	14	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522593	0.85600	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.27557	2.34;1.66;1.68	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.53367	0.1792	M	0.62723	1.935	0.58432	D	0.999994	D;D;D	0.89917	0.982;0.999;1.0	P;D;D	0.78314	0.781;0.991;0.986	T	0.51601	-0.8685	10	0.46703	T	0.11	-20.4216	16.1549	0.81657	0.0:0.0:0.0:1.0	.	8;8;8	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	N	8	ENSP00000327436:K8N;ENSP00000327910:K8N;ENSP00000408602:K8N	ENSP00000327910:K8N	K	-	3	2	SETD3	99001872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.750000	0.68712	2.209000	0.71365	0.533000	0.62120	AAA	SETD3	-	NULL	ENSG00000183576		0.398	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	467	0.00	0	T	NM_032233		99932119	99932119	-1	no_errors	ENST00000331768	ensembl	human	known	69_37n	missense	417	13.46	65	SNP	1.000	G
SETD4	54093	genome.wustl.edu	37	21	37431203	37431203	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:37431203C>A	ENST00000399215.1	-	0	1356				AP000688.11_ENST00000436303.1_RNA|SETD4_ENST00000399205.1_5'UTR|SETD4_ENST00000399207.1_5'UTR|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000332131.4_5'UTR|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_5'UTR|SETD4_ENST00000399201.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4								methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						ACTGTAGTTTCTTTTTTCTGA	0.328																																						dbGAP											0													129.0	131.0	130.0					21																	37431203		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.-17G>T	21.37:g.37431203C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	RNA	SNP	-	NULL	ENST00000399215.1	37	NULL	CCDS13640.1	21																																																																																			SETD4	-	-	ENSG00000185917		0.328	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD4	HGNC	protein_coding	OTTHUMT00000194456.1	720	0.14	1	C	NM_017438		37431203	37431203	-1	no_errors	ENST00000481477	ensembl	human	known	69_37n	rna	428	13.01	64	SNP	0.356	A
SETD5	55209	genome.wustl.edu	37	3	9489440	9489440	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:9489440G>A	ENST00000406341.1	+	14	2043	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q|SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q|SETD5_ENST00000402466.1_Missense_Mutation_p.R520Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q			Q9C0A6	SETD5_HUMAN	SET domain containing 5	618								p.R520L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCGAAGAGTCGAATTTCTCGG	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	95.0	94.0					3																	9489440		1936	4132	6068	-	-	-	SO:0001583	missense	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.1853G>A	3.37:g.9489440G>A	ENSP00000383939:p.Arg618Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.R618Q	ENST00000406341.1	37	c.1853	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.191728	0.94923	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.93547	-2.9;-3.24;-2.9;-2.88;-3.24	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.59436	1.845	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.988;0.988	D	0.95672	0.8724	10	0.52906	T	0.07	-7.3921	19.8199	0.96589	0.0:0.0:1.0:0.0	.	287;520;618;637	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	Q	618;520;618;637;520	ENSP00000385852:R618Q;ENSP00000384429:R520Q;ENSP00000383939:R618Q;ENSP00000384114:R637Q;ENSP00000302028:R520Q	ENSP00000302028:R520Q	R	+	2	0	SETD5	9464440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.275000	0.95738	2.677000	0.91161	0.655000	0.94253	CGA	SETD5	-	NULL	ENSG00000168137		0.522	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	68	0.00	0	G	XM_371614		9489440	9489440	+1	no_errors	ENST00000402198	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	A
SETD5	55209	genome.wustl.edu	37	3	9512216	9512216	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:9512216G>T	ENST00000406341.1	+	18	2988	c.2798G>T	c.(2797-2799)aGa>aTa	p.R933I	SETD5_ENST00000407969.1_Missense_Mutation_p.R952I|SETD5_ENST00000402198.1_Missense_Mutation_p.R933I|SETD5_ENST00000402466.1_Missense_Mutation_p.R835I|SETD5_ENST00000302463.6_Missense_Mutation_p.R835I			Q9C0A6	SETD5_HUMAN	SET domain containing 5	933										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTGCTGATAGACCTTCCCTA	0.478																																						dbGAP											0													201.0	190.0	193.0					3																	9512216		1933	4129	6062	-	-	-	SO:0001583	missense	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2798G>T	3.37:g.9512216G>T	ENSP00000383939:p.Arg933Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.R933I	ENST00000406341.1	37	c.2798	CCDS46741.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.70|16.70	3.195212|3.195212	0.58017|0.58017	.|.	.|.	ENSG00000168137|ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463|ENST00000399686;ENST00000421188	D;D;D;D;D|.	0.92249|.	-2.68;-3.0;-2.68;-2.67;-3.0|.	5.31|5.31	4.43|4.43	0.53597|0.53597	.|.	0.142017|.	0.49916|.	D|.	0.000139|.	T|.	0.41488|.	0.1161|.	N|N	0.19112|0.19112	0.55|0.55	0.45139|0.45139	D|D	0.998156|0.998156	P;B;P|.	0.44578|.	0.776;0.429;0.838|.	P;B;B|.	0.47573|.	0.55;0.344;0.202|.	T|.	0.17501|.	-1.0367|.	10|.	0.87932|.	D|.	0|.	-14.8244|-14.8244	9.7246|9.7246	0.40324|0.40324	0.1552:0.0:0.8448:0.0|0.1552:0.0:0.8448:0.0	.|.	602;835;933|.	B3KXG4;Q9C0A6-3;Q9C0A6|.	.;.;SETD5_HUMAN|.	I|Y	933;835;933;952;835|600;263	ENSP00000385852:R933I;ENSP00000384429:R835I;ENSP00000383939:R933I;ENSP00000384114:R952I;ENSP00000302028:R835I|.	ENSP00000302028:R835I|.	R|X	+|+	2|3	0|2	SETD5|SETD5	9487216|9487216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.914000|3.914000	0.56401|0.56401	2.478000|2.478000	0.83669|0.83669	0.585000|0.585000	0.79938|0.79938	AGA|TAG	SETD5	-	NULL	ENSG00000168137		0.478	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	272	0.00	0	G	XM_371614		9512216	9512216	+1	no_errors	ENST00000402198	ensembl	human	known	69_37n	missense	314	19.69	77	SNP	1.000	T
SETD7	80854	genome.wustl.edu	37	4	140468192	140468192	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:140468192C>T	ENST00000274031.3	-	2	688	c.52G>A	c.(52-54)Gat>Aat	p.D18N	SETD7_ENST00000406354.1_5'UTR|SETD7_ENST00000506866.2_Missense_Mutation_p.D18N|SETD7_ENST00000404104.3_Missense_Mutation_p.D18N	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	18					chromatin modification (GO:0016568)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AATCCGTCATCGTCCAGGTGC	0.522																																						dbGAP											0													86.0	77.0	80.0					4																	140468192		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051504	CCDS3748.1	4q31.1	2011-07-01			ENSG00000145391	ENSG00000145391		"""Chromatin-modifying enzymes / K-methyltransferases"""	30412	protein-coding gene	gene with protein product		606594				11850410, 11779497	Standard	NM_030648		Approved	KIAA1717, SET7, SET7/9, Set9, KMT7	uc003ihw.3	Q8WTS6	OTTHUMG00000133385	ENST00000274031.3:c.52G>A	4.37:g.140468192C>T	ENSP00000274031:p.Asp18Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5WWL3|Q0VAH3|Q4W5A9|Q9C0E6	Missense_Mutation	SNP	pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom	p.D18N	ENST00000274031.3	37	c.52	CCDS3748.1	4	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027844	0.93518	.	.	ENSG00000145391	ENST00000506866;ENST00000274031;ENST00000404104	T;T;T	0.41758	1.47;1.51;0.99	6.07	6.07	0.98685	.	0.094046	0.64402	D	0.000001	T	0.50446	0.1616	L	0.38531	1.155	0.80722	D	1	D;P	0.61697	0.99;0.799	P;B	0.55055	0.767;0.333	T	0.19549	-1.0302	10	0.29301	T	0.29	-18.3734	20.6593	0.99626	0.0:1.0:0.0:0.0	.	18;18	B5MCZ8;Q8WTS6	.;SETD7_HUMAN	N	18	ENSP00000427300:D18N;ENSP00000274031:D18N;ENSP00000385913:D18N	ENSP00000274031:D18N	D	-	1	0	SETD7	140687642	1.000000	0.71417	0.330000	0.25442	0.391000	0.30476	7.313000	0.78978	2.885000	0.99019	0.655000	0.94253	GAT	SETD7	-	pirsf_Hist-Lys_N-MeTrfase_SET	ENSG00000145391		0.522	SETD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD7	HGNC	protein_coding	OTTHUMT00000257236.1	226	0.00	0	C	NM_030648		140468192	140468192	-1	no_errors	ENST00000274031	ensembl	human	known	69_37n	missense	140	25.93	49	SNP	1.000	T
SETDB1	9869	genome.wustl.edu	37	1	150923291	150923291	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150923291C>T	ENST00000271640.5	+	13	2128	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.F646F	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	646	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTACCTTTTCGAGACTGGCT	0.458																																						dbGAP											0													150.0	134.0	139.0					1																	150923291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1938C>T	1.37:g.150923291C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.F646	ENST00000271640.5	37	c.1938	CCDS44217.1	1																																																																																			SETDB1	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000143379		0.458	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	324	0.00	0	C			150923291	150923291	+1	no_errors	ENST00000271640	ensembl	human	known	69_37n	silent	247	10.18	28	SNP	1.000	T
SETX	23064	genome.wustl.edu	37	9	135150709	135150709	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135150709A>G	ENST00000224140.5	-	23	7216	c.7034T>C	c.(7033-7035)aTa>aCa	p.I2345T	SETX_ENST00000372169.2_Missense_Mutation_p.I2345T|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Missense_Mutation_p.I2345T	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2345					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTAATGAGTTATTATGCCAAT	0.308																																						dbGAP											0													200.0	197.0	198.0					9																	135150709		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7034T>C	9.37:g.135150709A>G	ENSP00000224140:p.Ile2345Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.I2345T	ENST00000224140.5	37	c.7034	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	A	22.0	4.227881	0.79576	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95367	0.8496	H	0.98068	4.14	0.54753	D	0.999986	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	D	0.97031	0.9750	10	0.87932	D	0	.	14.9898	0.71377	1.0:0.0:0.0:0.0	.	2345;2345;2345	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	T	2345;587;2345;2345	ENSP00000224140:I2345T;ENSP00000409143:I587T;ENSP00000361242:I2345T;ENSP00000376913:I2345T	ENSP00000224140:I2345T	I	-	2	0	SETX	134140530	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.590000	0.74085	2.136000	0.66102	0.454000	0.30748	ATA	SETX	-	NULL	ENSG00000107290		0.308	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	554	0.00	0	A	NM_015046		135150709	135150709	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	466	13.65	74	SNP	1.000	G
SETX	23064	genome.wustl.edu	37	9	135163695	135163695	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135163695C>A	ENST00000224140.5	-	17	6434	c.6252G>T	c.(6250-6252)aaG>aaT	p.K2084N	SETX_ENST00000372169.2_Missense_Mutation_p.K2084N|SETX_ENST00000393220.1_Missense_Mutation_p.K2084N	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2084					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTAGAAATTCCTTTCTTTTAT	0.353																																						dbGAP											0													53.0	52.0	52.0					9																	135163695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6252G>T	9.37:g.135163695C>A	ENSP00000224140:p.Lys2084Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.K2084N	ENST00000224140.5	37	c.6252	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271898	0.59649	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.4	3.25	0.37280	.	0.130425	0.53938	D	0.000046	D	0.87637	0.6227	M	0.67953	2.075	0.43902	D	0.996537	P;D;D	0.89917	0.528;1.0;1.0	P;D;D	0.91635	0.502;0.999;0.996	D	0.85123	0.0970	10	0.54805	T	0.06	.	6.6961	0.23199	0.0:0.4332:0.0:0.5667	.	2084;2084;2084	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	N	2084;326;2084;2084	ENSP00000224140:K2084N;ENSP00000409143:K326N;ENSP00000361242:K2084N;ENSP00000376913:K2084N	ENSP00000224140:K2084N	K	-	3	2	SETX	134153516	0.965000	0.33210	0.995000	0.50966	0.744000	0.42396	-0.151000	0.10175	0.500000	0.27991	0.650000	0.86243	AAG	SETX	-	NULL	ENSG00000107290		0.353	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	106	0.00	0	C	NM_015046		135163695	135163695	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	79	34.71	42	SNP	1.000	A
SETX	23064	genome.wustl.edu	37	9	135202871	135202871	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135202871C>A	ENST00000224140.5	-	10	4296	c.4114G>T	c.(4114-4116)Gat>Tat	p.D1372Y	SETX_ENST00000372169.2_Missense_Mutation_p.D1372Y|SETX_ENST00000393220.1_Missense_Mutation_p.D1372Y	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1372					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTTTTAACATCTGTACTTTCA	0.368																																						dbGAP											0													109.0	107.0	108.0					9																	135202871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4114G>T	9.37:g.135202871C>A	ENSP00000224140:p.Asp1372Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.D1372Y	ENST00000224140.5	37	c.4114	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	4.628	0.116724	0.08881	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87334	-2.15;-2.24;-1.85	5.75	1.76	0.24704	.	3.530630	0.00735	N	0.000966	D	0.85492	0.5709	M	0.63428	1.95	0.09310	N	1	B;B;B	0.14438	0.01;0.003;0.01	B;B;B	0.17433	0.012;0.003;0.018	T	0.65360	-0.6187	10	0.72032	D	0.01	.	4.1486	0.10227	0.1328:0.5988:0.1282:0.1403	.	1372;1372;1372	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Y	1372	ENSP00000224140:D1372Y;ENSP00000361242:D1372Y;ENSP00000376913:D1372Y	ENSP00000224140:D1372Y	D	-	1	0	SETX	134192692	0.013000	0.17824	0.000000	0.03702	0.035000	0.12851	1.213000	0.32407	0.315000	0.23110	0.650000	0.86243	GAT	SETX	-	NULL	ENSG00000107290		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	334	0.30	1	C	NM_015046		135202871	135202871	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	238	27.66	91	SNP	0.001	A
SETX	23064	genome.wustl.edu	37	9	135203976	135203976	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135203976A>C	ENST00000224140.5	-	10	3191	c.3009T>G	c.(3007-3009)aaT>aaG	p.N1003K	SETX_ENST00000372169.2_Missense_Mutation_p.N1003K|SETX_ENST00000393220.1_Missense_Mutation_p.N1003K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1003					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTCCAACATTATTTTGGTTAG	0.388																																						dbGAP											0													112.0	114.0	113.0					9																	135203976		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3009T>G	9.37:g.135203976A>C	ENSP00000224140:p.Asn1003Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.N1003K	ENST00000224140.5	37	c.3009	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	A	7.386	0.629763	0.14257	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86562	-2.05;-2.14;-1.76	5.45	1.32	0.21799	.	11.671600	0.00166	N	0.000000	T	0.80768	0.4686	L	0.32530	0.975	0.09310	N	1	P;P;P	0.41848	0.763;0.651;0.763	B;B;B	0.33960	0.173;0.084;0.173	T	0.69636	-0.5092	10	0.56958	D	0.05	.	8.6663	0.34123	0.6117:0.0:0.3883:0.0	.	1003;1003;1003	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	1003	ENSP00000224140:N1003K;ENSP00000361242:N1003K;ENSP00000376913:N1003K	ENSP00000224140:N1003K	N	-	3	2	SETX	134193797	0.008000	0.16893	0.002000	0.10522	0.198000	0.23893	1.479000	0.35453	0.040000	0.15660	0.533000	0.62120	AAT	SETX	-	NULL	ENSG00000107290		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	333	0.00	0	A	NM_015046		135203976	135203976	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	225	13.79	36	SNP	0.000	C
SETX	23064	genome.wustl.edu	37	9	135204368	135204368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135204368C>A	ENST00000224140.5	-	10	2799	c.2617G>T	c.(2617-2619)Gaa>Taa	p.E873*	SETX_ENST00000372169.2_Nonsense_Mutation_p.E873*|SETX_ENST00000393220.1_Nonsense_Mutation_p.E873*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	873					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACTAATTCTTCATTCTTT	0.308																																						dbGAP											0													38.0	38.0	38.0					9																	135204368		2200	4297	6497	-	-	-	SO:0001587	stop_gained	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2617G>T	9.37:g.135204368C>A	ENSP00000224140:p.Glu873*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	NULL	p.E873*	ENST00000224140.5	37	c.2617	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	C	38	7.283522	0.98186	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	.	.	.	5.43	-0.0153	0.13976	.	7739.210000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	4.3239	0.11031	0.0:0.4507:0.1625:0.3868	.	.	.	.	X	873	.	ENSP00000224140:E873X	E	-	1	0	SETX	134194189	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-0.216000	0.09266	0.320000	0.23234	0.655000	0.94253	GAA	SETX	-	NULL	ENSG00000107290		0.308	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	199	0.00	0	C	NM_015046		135204368	135204368	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	nonsense	157	14.67	27	SNP	0.000	A
SF3B6	51639	genome.wustl.edu	37	2	24297061	24297061	+	Nonsense_Mutation	SNP	G	G	A	rs565683212		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:24297061G>A	ENST00000233468.4	-	2	247	c.34C>T	c.(34-36)Cga>Tga	p.R12*		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAAGTCGAATCTAAAAT	0.279																																						dbGAP											0													72.0	69.0	70.0					2																	24297061		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0																														ENST00000233468.4:c.34C>T	2.37:g.24297061G>A	ENSP00000233468:p.Arg12*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R12*	ENST00000233468.4	37	c.34	CCDS1707.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.016525	0.97205	.	.	ENSG00000115128	ENST00000233468	.	.	.	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5818	17.7002	0.88292	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000233468:R12X	R	-	1	2	AC008073.5	24150565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.607000	0.98328	2.351000	0.79841	0.467000	0.42956	CGA	AC008073.5	-	NULL	ENSG00000115128		0.279	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B14	Clone_based_vega_gene	protein_coding	OTTHUMT00000246826.1	201	0.00	0	G			24297061	24297061	-1	no_errors	ENST00000233468	ensembl	human	known	69_37n	nonsense	172	13.13	26	SNP	1.000	A
SF3B1	23451	genome.wustl.edu	37	2	198285249	198285249	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:198285249C>T	ENST00000335508.6	-	4	409	c.318G>A	c.(316-318)gaG>gaA	p.E106E	SF3B1_ENST00000409915.4_Silent_p.E106E|SF3B1_ENST00000487698.1_Silent_p.E106E|SF3B1_ENST00000414963.2_Silent_p.E106E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	106					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAGGTCTGTGCTCAGCAAATG	0.373			Mis		myelodysplastic syndrome																																	dbGAP		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													146.0	141.0	143.0					2																	198285249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.318G>A	2.37:g.198285249C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCH3	Silent	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.E106	ENST00000335508.6	37	c.318	CCDS33356.1	2																																																																																			SF3B1	-	NULL	ENSG00000115524		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	691	0.00	0	C			198285249	198285249	-1	no_errors	ENST00000335508	ensembl	human	known	69_37n	silent	571	13.83	92	SNP	1.000	T
SFMBT1	51460	genome.wustl.edu	37	3	52954561	52954561	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:52954561C>T	ENST00000394752.3	-	12	1746	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	SFMBT1_ENST00000394750.1_Missense_Mutation_p.R455Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R455Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R455Q	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	455					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ACCTCGTGCTCGGCGAGGAGT	0.443																																						dbGAP											0													55.0	56.0	56.0					3																	52954561		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.1364G>A	3.37:g.52954561C>T	ENSP00000378235:p.Arg455Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.R455Q	ENST00000394752.3	37	c.1364	CCDS2867.1	3	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880256	0.72294	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.1	5.1	0.69264	.	0.141721	0.49305	D	0.000160	T	0.31765	0.0807	M	0.68317	2.08	0.42940	D	0.994341	P;P	0.43542	0.791;0.81	B;B	0.38327	0.149;0.271	T	0.11817	-1.0572	10	0.44086	T	0.13	.	12.8443	0.57821	0.0:0.9152:0.0:0.0848	.	455;455	Q9UHJ3-2;Q9UHJ3	.;SMBT1_HUMAN	Q	455	ENSP00000378235:R455Q;ENSP00000350789:R455Q;ENSP00000296295:R455Q;ENSP00000378233:R455Q	ENSP00000296295:R455Q	R	-	2	0	SFMBT1	52929601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.720000	0.47252	2.822000	0.97130	0.650000	0.86243	CGA	SFMBT1	-	pfam_Mbt	ENSG00000163935		0.443	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	157	0.00	0	C	NM_016329		52954561	52954561	-1	no_errors	ENST00000358080	ensembl	human	known	69_37n	missense	107	15.08	19	SNP	1.000	T
SFMBT2	57713	genome.wustl.edu	37	10	7205865	7205865	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:7205865T>C	ENST00000361972.4	-	21	2642	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D851G	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	851	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGCTTGGCCGTCAATATCCTG	0.572																																						dbGAP											0													65.0	58.0	60.0					10																	7205865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2552A>G	10.37:g.7205865T>C	ENSP00000355109:p.Asp851Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.D851G	ENST00000361972.4	37	c.2552	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321008	0.60634	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.66460	-0.21;-0.21	5.61	5.61	0.85477	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.90029	0.4133	10	0.87932	D	0	.	15.8067	0.78520	0.0:0.0:0.0:1.0	.	851	Q5VUG0	SMBT2_HUMAN	G	851	ENSP00000355109:D851G;ENSP00000380353:D851G	ENSP00000355109:D851G	D	-	2	0	SFMBT2	7245871	1.000000	0.71417	0.280000	0.24747	0.091000	0.18340	7.893000	0.87330	2.131000	0.65755	0.533000	0.62120	GAC	SFMBT2	-	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM	ENSG00000198879		0.572	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	65	0.00	0	T	NM_001029880		7205865	7205865	-1	no_errors	ENST00000361972	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	0.998	C
SFTA3	253970	genome.wustl.edu	37	14	36946216	36946216	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:36946216G>T	ENST00000518529.2	-	3	896	c.221C>A	c.(220-222)cCc>cAc	p.P74H	RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	74										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						CAGCGTCGTGGGATGCAGCAG	0.532																																						dbGAP											0													200.0	207.0	205.0					14																	36946216		2146	4246	6392	-	-	-	SO:0001583	missense	0			AY102071	CCDS45097.1	14q13.3	2014-06-19	2008-08-26	2008-08-26	ENSG00000229415	ENSG00000229415			18387	protein-coding gene	gene with protein product			"""surfactant associated protein H"""	SFTPH			Standard	NM_001101341		Approved	NANCI	uc001wtr.3	P0C7M3	OTTHUMG00000170540	ENST00000518529.2:c.221C>A	14.37:g.36946216G>T	ENSP00000428331:p.Pro74His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P74H	ENST00000518529.2	37	c.221	CCDS45097.1	14	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309973	0.23821	.	.	ENSG00000229415	ENST00000518529	.	.	.	4.0	-1.58	0.08479	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.09310	N	1	P	0.51240	0.943	P	0.47915	0.561	T	0.20571	-1.0271	7	0.87932	D	0	.	1.2457	0.01972	0.2162:0.3287:0.2982:0.1569	.	74	P0C7M3	SFTA3_HUMAN	H	74	.	ENSP00000428247:P74H	P	-	2	0	SFTA3	36015967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.751000	0.04803	-0.299000	0.08909	-0.345000	0.07892	CCC	SFTA3	-	NULL	ENSG00000229415		0.532	SFTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTA3	HGNC	protein_coding	OTTHUMT00000376217.2	266	0.37	1	G	NM_001101341		36946216	36946216	-1	no_errors	ENST00000518002	ensembl	human	known	69_37n	missense	210	11.76	28	SNP	0.000	T
SGCB	6443	genome.wustl.edu	37	4	52890182	52890182	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:52890182C>A	ENST00000381431.5	-	6	1120	c.898G>T	c.(898-900)Gta>Tta	p.V300L	SGCB_ENST00000535450.1_Missense_Mutation_p.V230L	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	300	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGGCTGGTTACTTGCACCTTG	0.512																																						dbGAP											0													122.0	103.0	110.0					4																	52890182		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.898G>T	4.37:g.52890182C>A	ENSP00000370839:p.Val300Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z635|O00661	Missense_Mutation	SNP	pfam_Sarcoglycan	p.V300L	ENST00000381431.5	37	c.898	CCDS3488.1	4	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815119	0.70912	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94723	-3.5;-3.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	L	0.59436	1.845	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.77004	0.989;0.989	D	0.96539	0.9399	10	0.59425	D	0.04	-24.9222	18.8304	0.92137	0.0:1.0:0.0:0.0	.	230;300	B7Z635;Q16585	.;SGCB_HUMAN	L	300;230	ENSP00000370839:V300L;ENSP00000441199:V230L	ENSP00000370839:V300L	V	-	1	0	SGCB	52584939	1.000000	0.71417	0.561000	0.28357	0.450000	0.32258	7.663000	0.83820	2.751000	0.94390	0.591000	0.81541	GTA	SGCB	-	pfam_Sarcoglycan	ENSG00000163069		0.512	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCB	HGNC	protein_coding	OTTHUMT00000250596.2	116	0.00	0	C			52890182	52890182	-1	no_errors	ENST00000381431	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	1.000	A
SGK1	6446	genome.wustl.edu	37	6	134491430	134491430	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:134491430C>T	ENST00000237305.7	-	12	1360	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	SGK1_ENST00000367857.5_Silent_p.A414A|SGK1_ENST00000475719.2_Silent_p.A380A|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367858.5_Silent_p.A519A|SGK1_ENST00000413996.3_Silent_p.A438A|SGK1_ENST00000528577.1_Silent_p.A452A	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	424	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.A519A(1)|p.A452A(1)|p.A414A(1)|p.A424A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CCGTGGGAGGCGCATAGGAAA	0.527																																						dbGAP											4	Substitution - coding silent(4)	lung(4)											65.0	66.0	66.0					6																	134491430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1272G>A	6.37:g.134491430C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.A519	ENST00000237305.7	37	c.1557	CCDS5170.1	6																																																																																			SGK1	-	pfam_Pkinase_C,smart_AGC-kinase_C	ENSG00000118515		0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK1	HGNC	protein_coding	OTTHUMT00000042312.2	195	0.00	0	C			134491430	134491430	-1	no_errors	ENST00000367858	ensembl	human	known	69_37n	silent	98	23.26	30	SNP	0.047	T
SGMS2	166929	genome.wustl.edu	37	4	108831624	108831624	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:108831624C>A	ENST00000394684.4	+	7	1570	c.1013C>A	c.(1012-1014)tCt>tAt	p.S338Y	RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.S338Y|SGMS2_ENST00000359079.4_Missense_Mutation_p.S338Y|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	338					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TGGCCGCTGTCTTGGCCTCCT	0.433																																						dbGAP											0													64.0	66.0	65.0					4																	108831624		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.1013C>A	4.37:g.108831624C>A	ENSP00000378176:p.Ser338Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S9|B2RA61	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase	p.S338Y	ENST00000394684.4	37	c.1013	CCDS3677.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468604	0.84533	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.48522	0.81;0.81;0.81	6.07	6.07	0.98685	.	0.157065	0.56097	D	0.000023	T	0.54615	0.1869	L	0.47190	1.495	0.54753	D	0.999985	D	0.56968	0.978	P	0.49012	0.598	T	0.55579	-0.8119	10	0.87932	D	0	-14.7154	20.6593	0.99626	0.0:1.0:0.0:0.0	.	338	Q8NHU3	SMS2_HUMAN	Y	338	ENSP00000378176:S338Y;ENSP00000351981:S338Y;ENSP00000378178:S338Y	ENSP00000351981:S338Y	S	+	2	0	SGMS2	109051073	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	5.522000	0.67092	2.885000	0.99019	0.655000	0.94253	TCT	SGMS2	-	NULL	ENSG00000164023		0.433	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGMS2	HGNC	protein_coding	OTTHUMT00000254752.1	231	0.00	0	C	NM_152621		108831624	108831624	+1	no_errors	ENST00000359079	ensembl	human	known	69_37n	missense	93	27.91	36	SNP	0.993	A
SGPL1	8879	genome.wustl.edu	37	10	72604297	72604297	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:72604297G>A	ENST00000373202.3	+	3	295	c.95G>A	c.(94-96)gGa>gAa	p.G32E		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	32					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						TATGTAAATGGACATTGCACC	0.418																																					Colon(151;1054 2458 6676 40971)	dbGAP											0													131.0	120.0	123.0					10																	72604297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.95G>A	10.37:g.72604297G>A	ENSP00000362298:p.Gly32Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.G32E	ENST00000373202.3	37	c.95	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372798	0.42003	.	.	ENSG00000166224	ENST00000373202;ENST00000299297	T;T	0.39229	1.09;1.14	5.87	5.87	0.94306	.	0.229694	0.43919	D	0.000512	T	0.23766	0.0575	N	0.20685	0.6	0.37414	D	0.913355	B	0.06786	0.001	B	0.08055	0.003	T	0.13229	-1.0517	10	0.02654	T	1	-19.9002	11.1118	0.48237	0.0835:0.0:0.9165:0.0	.	32	O95470	SGPL1_HUMAN	E	32;15	ENSP00000362298:G32E;ENSP00000299297:G15E	ENSP00000299297:G15E	G	+	2	0	SGPL1	72274303	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.142000	0.42177	2.778000	0.95560	0.650000	0.86243	GGA	SGPL1	-	NULL	ENSG00000166224		0.418	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	368	0.00	0	G	NM_003901		72604297	72604297	+1	no_errors	ENST00000373202	ensembl	human	known	69_37n	missense	370	10.82	45	SNP	0.997	A
SH3BGR	6450	genome.wustl.edu	37	21	40834351	40834351	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:40834351C>T	ENST00000333634.4	+	2	363	c.285C>T	c.(283-285)atC>atT	p.I95I	SH3BGR_ENST00000380637.3_5'UTR|SH3BGR_ENST00000458295.1_5'UTR|SH3BGR_ENST00000380634.1_5'UTR|SH3BGR_ENST00000380631.1_5'UTR	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	95					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CGAATAAAATCGACTTTAAGG	0.368																																						dbGAP											0													99.0	107.0	104.0					21																	40834351		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.285C>T	21.37:g.40834351C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND59|D3DSI2|Q9BRB8	Nonsense_Mutation	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.R24*	ENST00000333634.4	37	c.70	CCDS13666.1	21	.	.	.	.	.	.	.	.	.	.	C	9.504	1.104036	0.20632	.	.	ENSG00000185437	ENST00000452550	.	.	.	5.09	-5.21	0.02815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2693	0.20945	0.2154:0.2255:0.0:0.559	.	.	.	.	X	24	.	.	R	+	1	2	SH3BGR	39756221	0.020000	0.18652	0.920000	0.36463	0.978000	0.69477	-0.924000	0.03996	-0.950000	0.03659	-0.768000	0.03414	CGA	SH3BGR	-	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	ENSG00000185437		0.368	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	HGNC	protein_coding	OTTHUMT00000157377.6	448	0.00	0	C	NM_007341		40834351	40834351	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452550	ensembl	human	novel	69_37n	nonsense	304	12.86	45	SNP	0.631	T
SH3BGR	6450	genome.wustl.edu	37	21	40883691	40883691	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:40883691G>A	ENST00000333634.4	+	6	787	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SH3BGR_ENST00000380637.3_Missense_Mutation_p.E126K|SH3BGR_ENST00000458295.1_Missense_Mutation_p.E95K|SH3BGR_ENST00000380634.1_Missense_Mutation_p.E126K|SH3BGR_ENST00000380631.1_Missense_Mutation_p.E126K	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	237	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TGGAGAAGACGAAGATTCCTA	0.478																																						dbGAP											0													104.0	94.0	97.0					21																	40883691		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.709G>A	21.37:g.40883691G>A	ENSP00000332513:p.Glu237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.E237K	ENST00000333634.4	37	c.709	CCDS13666.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.807|7.807	0.714831|0.714831	0.15306|0.15306	.|.	.|.	ENSG00000185437|ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000380631;ENST00000333634;ENST00000423596|ENST00000452550	T;T;T;T;T|.	0.57595|.	0.65;0.65;0.65;1.46;0.39|.	3.47|3.47	3.47|3.47	0.39725|0.39725	.|.	0.574459|.	0.16299|.	N|.	0.220537|.	T|T	0.32763|0.32763	0.0840|0.0840	N|N	0.24115|0.24115	0.695|0.695	0.28932|0.28932	N|N	0.891512|0.891512	D|.	0.76494|.	0.999|.	D|.	0.70716|.	0.97|.	T|T	0.18209|0.18209	-1.0344|-1.0344	10|5	0.23891|.	T|.	0.37|.	.|.	10.6918|10.6918	0.45875|0.45875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	237|.	P55822|.	SH3BG_HUMAN|.	K|Q	126;126;95;126;237;79|134	ENSP00000370011:E126K;ENSP00000370008:E126K;ENSP00000370005:E126K;ENSP00000332513:E237K;ENSP00000413981:E79K|.	ENSP00000332513:E237K|.	E|R	+|+	1|2	0|0	SH3BGR|SH3BGR	39805561|39805561	0.768000|0.768000	0.28519|0.28519	0.888000|0.888000	0.34837|0.34837	0.167000|0.167000	0.22549|0.22549	3.480000|3.480000	0.53172|0.53172	1.948000|1.948000	0.56530|0.56530	0.567000|0.567000	0.79289|0.79289	GAA|CGA	SH3BGR	-	NULL	ENSG00000185437		0.478	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	HGNC	protein_coding	OTTHUMT00000157377.6	490	0.00	0	G	NM_007341		40883691	40883691	+1	no_errors	ENST00000333634	ensembl	human	known	69_37n	missense	287	22.99	86	SNP	0.929	A
SH3D19	152503	genome.wustl.edu	37	4	152095845	152095845	+	Missense_Mutation	SNP	G	G	T	rs531866009		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:152095845G>T	ENST00000409252.2	-	6	1378	c.671C>A	c.(670-672)tCt>tAt	p.S224Y	SH3D19_ENST00000455740.1_Missense_Mutation_p.S224Y|SH3D19_ENST00000304527.4_Missense_Mutation_p.S224Y|SH3D19_ENST00000424281.1_Missense_Mutation_p.S224Y|SH3D19_ENST00000409598.4_Missense_Mutation_p.S224Y|SH3D19_ENST00000427414.2_Missense_Mutation_p.S224Y|SH3D19_ENST00000514152.1_Missense_Mutation_p.S224Y|SH3D19_ENST00000604030.1_5'Flank			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	224	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGAACCAACAGATTCTTCAGC	0.458																																						dbGAP											0													87.0	93.0	91.0					4																	152095845		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.671C>A	4.37:g.152095845G>T	ENSP00000386848:p.Ser224Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain	p.S224Y	ENST00000409252.2	37	c.671	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	0	-2.626156	0.00117	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70869	-0.49;0.16;-0.49;-0.52;-0.52;0.16;-0.49	5.69	0.0882	0.14454	.	2.163800	0.01565	N	0.020293	T	0.51787	0.1695	L	0.27053	0.805	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.11329	0.002;0.002;0.006	T	0.39292	-0.9621	10	0.02654	T	1	-0.9415	3.7066	0.08403	0.1345:0.2181:0.458:0.1894	.	224;224;224	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	Y	224	ENSP00000387030:S224Y;ENSP00000302913:S224Y;ENSP00000416708:S224Y;ENSP00000404542:S224Y;ENSP00000415694:S224Y;ENSP00000386848:S224Y;ENSP00000423449:S224Y	ENSP00000302913:S224Y	S	-	2	0	SH3D19	152315295	0.000000	0.05858	0.012000	0.15200	0.987000	0.75469	0.199000	0.17237	0.039000	0.15632	0.549000	0.68633	TCT	SH3D19	-	NULL	ENSG00000109686		0.458	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	117	0.00	0	G	NM_001009555		152095845	152095845	-1	no_errors	ENST00000304527	ensembl	human	known	69_37n	missense	54	33.33	27	SNP	0.000	T
SH3GL1	6455	genome.wustl.edu	37	19	4365582	4365582	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:4365582C>A	ENST00000269886.3	-	4	406	c.228G>T	c.(226-228)aaG>aaT	p.K76N	SH3GL1_ENST00000598564.1_Missense_Mutation_p.K76N|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	76	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GGCCCCGGATCTTGGACACCG	0.662			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	dbGAP		Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													87.0	89.0	88.0					19																	4365582		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.228G>T	19.37:g.4365582C>A	ENSP00000269886:p.Lys76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,prints_SH3_domain,prints_p67phox,pfscan_BAR_dom,pfscan_SH3_domain	p.K76N	ENST00000269886.3	37	c.228	CCDS32874.1	19	.	.	.	.	.	.	.	.	.	.	.	18.82	3.706160	0.68615	.	.	ENSG00000141985	ENST00000269886	T	0.33438	1.41	4.13	1.96	0.26148	BAR (3);	0.000000	0.85682	U	0.000000	T	0.60534	0.2276	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.64007	-0.6508	10	0.87932	D	0	-0.3626	9.1838	0.37158	0.0:0.8141:0.0:0.1859	.	76;76	Q6FGM0;Q99961	.;SH3G1_HUMAN	N	76	ENSP00000269886:K76N	ENSP00000269886:K76N	K	-	3	2	SH3GL1	4316582	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.619000	0.36965	0.243000	0.21327	-0.289000	0.09944	AAG	SH3GL1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000141985		0.662	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	50	0.00	0	C	NM_003025		4365582	4365582	-1	no_errors	ENST00000269886	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	A
SH3GLB2	56904	genome.wustl.edu	37	9	131784616	131784616	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:131784616C>A	ENST00000372564.3	-	2	295	c.150G>T	c.(148-150)aaG>aaT	p.K50N	SH3GLB2_ENST00000372554.4_Missense_Mutation_p.K50N|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.K50N|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.K50N|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.K50N	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	50	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTGTCCAGTTCTTGGTGCTGT	0.587																																						dbGAP											0													91.0	73.0	79.0					9																	131784616		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.150G>T	9.37:g.131784616C>A	ENSP00000361645:p.Lys50Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.K50N	ENST00000372564.3	37	c.150	CCDS6916.1	9	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338589	0.81911	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.82	4.93	0.64822	BAR (3);	0.043681	0.85682	D	0.000000	T	0.59046	0.2165	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.76575	0.988;0.868	T	0.60642	-0.7223	10	0.42905	T	0.14	-10.8153	14.0455	0.64702	0.0:0.9278:0.0:0.0722	.	50;50	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	N	50	ENSP00000361645:K50N;ENSP00000361640:K50N;ENSP00000361634:K50N;ENSP00000402566:K50N;ENSP00000388282:K50N	ENSP00000361634:K50N	K	-	3	2	SH3GLB2	130824437	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.580000	0.46068	1.474000	0.48178	-0.140000	0.14226	AAG	SH3GLB2	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000148341		0.587	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB2	HGNC	protein_coding	OTTHUMT00000054535.2	186	0.00	0	C			131784616	131784616	-1	no_errors	ENST00000372554	ensembl	human	known	69_37n	missense	97	11.82	13	SNP	1.000	A
SH3PXD2A	9644	genome.wustl.edu	37	10	105372948	105372948	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:105372948C>T	ENST00000369774.4	-	12	1197		c.e12-1		SH3PXD2A_ENST00000540321.1_Splice_Site|SH3PXD2A_ENST00000315994.6_Splice_Site|SH3PXD2A_ENST00000355946.2_Splice_Site|SH3PXD2A_ENST00000538130.1_Splice_Site|SH3PXD2A_ENST00000427662.2_Splice_Site			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A						superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCCCAGGTATCTGTGGGGAGG	0.607																																						dbGAP											0													70.0	73.0	72.0					10																	105372948		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.921-1G>A	10.37:g.105372948C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR98|O43302|Q5TCZ2|Q5TDQ8	Splice_Site	SNP	-	e12-1	ENST00000369774.4	37	c.921-1		10	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786470	0.90367	.	.	ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000420222;ENST00000538130	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.297	0.94126	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SH3PXD2A	105362938	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.559000	0.86315	0.491000	0.48974	.	SH3PXD2A	-	-	ENSG00000107957		0.607	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	35	0.00	0	C	NM_014631	Intron	105372948	105372948	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	splice_site	21	22.22	6	SNP	1.000	T
SH3TC1	54436	genome.wustl.edu	37	4	8216249	8216249	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:8216249C>T	ENST00000245105.3	+	5	490	c.423C>T	c.(421-423)atC>atT	p.I141I	SH3TC1_ENST00000539824.1_Silent_p.I65I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	141										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGACCGGATCGTGGTGACGT	0.512																																					NSCLC(145;2298 2623 35616 37297)	dbGAP											0													94.0	90.0	91.0					4																	8216249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.423C>T	4.37:g.8216249C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.I141	ENST00000245105.3	37	c.423	CCDS3399.1	4																																																																																			SH3TC1	-	NULL	ENSG00000125089		0.512	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	54	0.00	0	C	NM_018986		8216249	8216249	+1	no_errors	ENST00000245105	ensembl	human	known	69_37n	silent	22	37.14	13	SNP	0.589	T
SHANK2	22941	genome.wustl.edu	37	11	70803521	70803521	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:70803521C>T	ENST00000338508.4	-	6	858	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K				Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1202	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGGCGTGTTCGTGCAGGAGA	0.567																																						dbGAP											0													119.0	116.0	117.0					11																	70803521		692	1591	2283	-	-	-	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000338508.4:c.859G>A	11.37:g.70803521C>T	ENSP00000345193:p.Glu287Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E287K	ENST00000338508.4	37	c.859		11	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107098	0.56291	.	.	ENSG00000162105	ENST00000338508;ENST00000457074;ENST00000413503	T;T;T	0.65916	2.31;-0.18;-0.18	4.07	4.07	0.47477	.	1.106060	0.07378	U	0.886968	T	0.51770	0.1694	.	.	.	0.80722	D	1	D	0.57899	0.981	B	0.38156	0.266	T	0.52741	-0.8535	9	0.44086	T	0.13	.	10.2082	0.43126	0.0:0.9082:0.0:0.0918	.	287	Q9UPX8-3	.	K	287	ENSP00000345193:E287K;ENSP00000388513:E287K;ENSP00000390735:E287K	ENSP00000345193:E287K	E	-	1	0	SHANK2	70481169	0.996000	0.38824	0.027000	0.17364	0.908000	0.53690	3.563000	0.53784	2.110000	0.64415	0.555000	0.69702	GAA	SHANK2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000162105		0.567	SHANK2-201	KNOWN	basic|appris_principal	protein_coding	SHANK2	HGNC	protein_coding		216	0.00	0	C	NM_012309		70803521	70803521	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	missense	172	10.82	21	SNP	0.779	T
SHISA9	729993	genome.wustl.edu	37	16	12996267	12996267	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:12996267A>C	ENST00000424107.3	+	1	791	c.346A>C	c.(346-348)Aac>Cac	p.N116H	SHISA9_ENST00000558318.1_Missense_Mutation_p.N157H|SHISA9_ENST00000423335.2_Missense_Mutation_p.N116H|SHISA9_ENST00000558583.1_Missense_Mutation_p.N157H			B4DS77	SHSA9_HUMAN	shisa family member 9	116					regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|dendritic spine membrane (GO:0032591)|ionotropic glutamate receptor complex (GO:0008328)|synapse (GO:0045202)				breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						GCGGCGACTGAACCAAAGCAC	0.627																																						dbGAP											0													74.0	68.0	70.0					16																	12996267		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45417.1, CCDS45418.1, CCDS45417.2, CCDS45418.2	16p13.12	2013-07-31	2013-07-31		ENSG00000237515	ENSG00000237515		"""Shisa homologs"""	37231	protein-coding gene	gene with protein product		613346	"""shisa homolog 9 (Xenopus laevis)"""				Standard	NM_001145205		Approved		uc010uyy.2	B4DS77	OTTHUMG00000154258	ENST00000424107.3:c.346A>C	16.37:g.12996267A>C	ENSP00000407958:p.Asn116His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J314|C9JCE9	Missense_Mutation	SNP	NULL	p.N157H	ENST00000424107.3	37	c.469	CCDS45417.2	16	.	.	.	.	.	.	.	.	.	.	A	17.10	3.304262	0.60305	.	.	ENSG00000237515	ENST00000424107;ENST00000423335	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	T	0.39306	0.1073	N	0.14661	0.345	0.31483	N	0.66696	D;D	0.71674	0.971;0.998	P;D	0.63597	0.77;0.916	T	0.42327	-0.9458	8	0.87932	D	0	.	4.9191	0.13860	0.8557:0.0:0.1443:0.0	.	116;116	B4DS77;B4DS77-3	SHSA9_HUMAN;.	H	157	.	ENSP00000395245:N157H	N	+	1	0	SHISA9	12903768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.762000	0.74950	1.375000	0.46248	0.379000	0.24179	AAC	SHISA9	-	NULL	ENSG00000237515		0.627	SHISA9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHISA9	HGNC	protein_coding	OTTHUMT00000334564.5	28	0.00	0	A	NM_001145204		12996267	12996267	+1	no_errors	ENST00000558583	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	1.000	C
SHOC2	8036	genome.wustl.edu	37	10	112724655	112724655	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:112724655A>C	ENST00000369452.4	+	2	884	c.539A>C	c.(538-540)aAa>aCa	p.K180T	SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Missense_Mutation_p.K180T	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	180					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CGGCATAATAAACTGAGAGAA	0.398																																						dbGAP											0													89.0	94.0	92.0					10																	112724655		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.539A>C	10.37:g.112724655A>C	ENSP00000358464:p.Lys180Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K180T	ENST00000369452.4	37	c.539	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156655	0.78114	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.58940	0.3;0.3;2.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.87578	0.979;0.998	T	0.71839	-0.4471	10	0.49607	T	0.09	.	16.1328	0.81454	1.0:0.0:0.0:0.0	.	180;180	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	T	180;180;16	ENSP00000265277:K180T;ENSP00000358464:K180T;ENSP00000408275:K16T	ENSP00000265277:K180T	K	+	2	0	SHOC2	112714645	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.339000	0.96797	2.208000	0.71279	0.533000	0.62120	AAA	SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000108061		0.398	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	126	0.00	0	A	NM_007373		112724655	112724655	+1	no_errors	ENST00000369452	ensembl	human	known	69_37n	missense	70	27.84	27	SNP	1.000	C
SHOC2	8036	genome.wustl.edu	37	10	112771504	112771504	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:112771504G>T	ENST00000369452.4	+	9	2022	c.1677G>T	c.(1675-1677)caG>caT	p.Q559H	SHOC2_ENST00000265277.5_Missense_Mutation_p.Q513H	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	559					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TTCCACCTCAGATTGTTGCTG	0.483																																						dbGAP											0													110.0	105.0	107.0					10																	112771504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1677G>T	10.37:g.112771504G>T	ENSP00000358464:p.Gln559His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q559H	ENST00000369452.4	37	c.1677	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908549	0.52439	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;D	0.83673	1.52;1.28;-1.75	5.64	4.74	0.60224	.	0.159960	0.64402	D	0.000018	T	0.76111	0.3942	N	0.14661	0.345	0.80722	D	1	D;B	0.54207	0.965;0.047	P;B	0.47981	0.563;0.012	T	0.80269	-0.1453	10	0.72032	D	0.01	.	14.2419	0.65963	0.0717:0.0:0.9283:0.0	.	513;559	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	H	513;559;349	ENSP00000265277:Q513H;ENSP00000358464:Q559H;ENSP00000408275:Q349H	ENSP00000265277:Q513H	Q	+	3	2	SHOC2	112761494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.665000	0.61547	1.367000	0.46095	0.655000	0.94253	CAG	SHOC2	-	NULL	ENSG00000108061		0.483	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	209	0.00	0	G	NM_007373		112771504	112771504	+1	no_errors	ENST00000369452	ensembl	human	known	69_37n	missense	114	13.64	18	SNP	1.000	T
SHPRH	257218	genome.wustl.edu	37	6	146276436	146276436	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:146276436G>A	ENST00000367505.2	-	2	287	c.23C>T	c.(22-24)gCt>gTt	p.A8V	SHPRH_ENST00000367503.3_Missense_Mutation_p.A8V|SHPRH_ENST00000438092.2_Missense_Mutation_p.A8V|SHPRH_ENST00000275233.7_Missense_Mutation_p.A8V			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	8					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CACTGGAGGAGCACGTTTCCG	0.433																																						dbGAP											0													121.0	117.0	118.0					6																	146276436		1947	4152	6099	-	-	-	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.23C>T	6.37:g.146276436G>A	ENSP00000356475:p.Ala8Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.A8V	ENST00000367505.2	37	c.23	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	G	35	5.555047	0.96514	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.74839	0.3769	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.922;0.996;0.998	T	0.76066	-0.3095	10	0.72032	D	0.01	-13.6163	19.7365	0.96208	0.0:0.0:1.0:0.0	.	8;8;8	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	V	8	ENSP00000356475:A8V;ENSP00000356473:A8V;ENSP00000412797:A8V;ENSP00000275233:A8V	ENSP00000275233:A8V	A	-	2	0	SHPRH	146318129	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.437000	0.73421	2.672000	0.90937	0.655000	0.94253	GCT	SHPRH	-	NULL	ENSG00000146414		0.433	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	188	0.00	0	G	NM_173082		146276436	146276436	-1	no_errors	ENST00000367503	ensembl	human	known	69_37n	missense	173	11.22	22	SNP	1.000	A
SHROOM2	357	genome.wustl.edu	37	X	9900234	9900234	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:9900234C>T	ENST00000380913.3	+	6	3001	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	971					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGCCCAGTGTCGGGAAGGCAG	0.532																																						dbGAP											0													95.0	81.0	86.0					X																	9900234		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2911C>T	X.37:g.9900234C>T	ENSP00000370299:p.Arg971Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R971W	ENST00000380913.3	37	c.2911	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	c	8.305	0.820907	0.16678	.	.	ENSG00000146950	ENST00000380913	T	0.15718	2.4	4.35	-0.969	0.10310	.	9.846910	0.00166	N	0.000000	T	0.14356	0.0347	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.29243	-1.0018	10	0.52906	T	0.07	.	6.7163	0.23304	0.0:0.5351:0.232:0.2329	.	971	Q13796	SHRM2_HUMAN	W	971	ENSP00000370299:R971W	ENSP00000370299:R971W	R	+	1	2	SHROOM2	9860234	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.185000	0.09684	-1.315000	0.02297	-0.937000	0.02696	CGG	SHROOM2	-	NULL	ENSG00000146950		0.532	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	140	0.00	0	C	NM_001649		9900234	9900234	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	63	29.67	27	SNP	0.000	T
SHROOM4	57477	genome.wustl.edu	37	X	50341289	50341289	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:50341289C>T	ENST00000289292.7	-	8	4472	c.4189G>A	c.(4189-4191)Gat>Aat	p.D1397N	SHROOM4_ENST00000483955.1_5'Flank|SHROOM4_ENST00000460112.3_Missense_Mutation_p.D1281N|SHROOM4_ENST00000376020.2_Missense_Mutation_p.D1397N			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1397	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCCTCTGAATCGATGCTGTTC	0.522																																						dbGAP											0													85.0	68.0	74.0					X																	50341289		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4189G>A	X.37:g.50341289C>T	ENSP00000289292:p.Asp1397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1397N	ENST00000289292.7	37	c.4189	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486033	0.63962	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.39229	1.09;1.09;1.09	5.18	5.18	0.71444	Apx/shroom, ASD2 (2);	0.285191	0.30959	N	0.008540	T	0.64427	0.2597	M	0.72894	2.215	0.43942	D	0.996606	D	0.76494	0.999	D	0.81914	0.995	T	0.68277	-0.5451	10	0.66056	D	0.02	.	16.5436	0.84408	0.0:1.0:0.0:0.0	.	1397	Q9ULL8	SHRM4_HUMAN	N	1397;1397;1281	ENSP00000289292:D1397N;ENSP00000365188:D1397N;ENSP00000421450:D1281N	ENSP00000289292:D1397N	D	-	1	0	SHROOM4	50358029	0.986000	0.35501	0.931000	0.37212	0.949000	0.60115	3.866000	0.56040	2.162000	0.67917	0.600000	0.82982	GAT	SHROOM4	-	pfam_ASD2	ENSG00000158352		0.522	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	270	0.00	0	C	NM_020717		50341289	50341289	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	176	25.74	61	SNP	0.998	T
SI	6476	genome.wustl.edu	37	3	164739077	164739077	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:164739077A>G	ENST00000264382.3	-	27	3256	c.3194T>C	c.(3193-3195)gTg>gCg	p.V1065A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1065	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTGATTTCCACATCATAAAG	0.343										HNSCC(35;0.089)																												dbGAP											0													188.0	189.0	189.0					3																	164739077		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3194T>C	3.37:g.164739077A>G	ENSP00000264382:p.Val1065Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.V1065A	ENST00000264382.3	37	c.3194	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328110	0.81690	.	.	ENSG00000090402	ENST00000264382	T	0.14022	2.54	4.58	4.58	0.56647	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	H	0.95816	3.725	0.53005	D	0.999964	D	0.89917	1.0	D	0.76575	0.988	T	0.65772	-0.6087	10	0.87932	D	0	.	14.1201	0.65182	1.0:0.0:0.0:0.0	.	1065	P14410	SUIS_HUMAN	A	1065	ENSP00000264382:V1065A	ENSP00000264382:V1065A	V	-	2	0	SI	166221771	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.056000	0.89455	1.927000	0.55829	0.477000	0.44152	GTG	SI	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000090402		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	477	0.00	0	A	NM_001041		164739077	164739077	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	missense	218	28.52	87	SNP	1.000	G
SI	6476	genome.wustl.edu	37	3	164741402	164741402	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:164741402G>A	ENST00000264382.3	-	26	3117	c.3055C>T	c.(3055-3057)Cgt>Tgt	p.R1019C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1019	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACCTCCACACGAAGAGTTGAG	0.393										HNSCC(35;0.089)																												dbGAP											0													130.0	122.0	125.0					3																	164741402		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3055C>T	3.37:g.164741402G>A	ENSP00000264382:p.Arg1019Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R1019C	ENST00000264382.3	37	c.3055	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642053	0.87859	.	.	ENSG00000090402	ENST00000264382	T	0.14022	2.54	5.39	5.39	0.77823	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	P	0.61328	0.887	T	0.58142	-0.7688	10	0.72032	D	0.01	.	18.9507	0.92640	0.0:0.0:1.0:0.0	.	1019	P14410	SUIS_HUMAN	C	1019	ENSP00000264382:R1019C	ENSP00000264382:R1019C	R	-	1	0	SI	166224096	0.916000	0.31088	0.977000	0.42913	0.985000	0.73830	3.186000	0.50942	2.795000	0.96236	0.655000	0.94253	CGT	SI	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000090402		0.393	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	313	0.00	0	G	NM_001041		164741402	164741402	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	missense	220	26.91	81	SNP	0.993	A
SIAH1	6477	genome.wustl.edu	37	16	48395618	48395618	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:48395618C>T	ENST00000380006.2	-	1	2175	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	SIAH1_ENST00000394725.2_Missense_Mutation_p.R241Q|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000356721.3_Missense_Mutation_p.R272Q			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	241	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATGAATAGATCGAGGAGTCGC	0.438																																						dbGAP											0													81.0	69.0	73.0					16																	48395618		2200	4300	6500	-	-	-	SO:0001583	missense	0			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.722G>A	16.37:g.48395618C>T	ENSP00000369343:p.Arg241Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH	p.R272Q	ENST00000380006.2	37	c.815	CCDS10735.1	16	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810373	0.50421	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.30714	1.52;1.52	5.55	4.6	0.57074	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.64402	U	0.000001	T	0.61135	0.2323	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.977	T	0.69045	-0.5249	10	0.54805	T	0.06	-19.5069	14.6855	0.69047	0.0:0.9301:0.0:0.0698	.	241;272	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	Q	272;241;257	ENSP00000349156:R272Q;ENSP00000378214:R241Q	ENSP00000349156:R272Q	R	-	2	0	SIAH1	46953119	1.000000	0.71417	0.916000	0.36221	0.095000	0.18619	6.054000	0.71096	1.491000	0.48482	-0.136000	0.14681	CGA	SIAH1	-	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like	ENSG00000196470		0.438	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SIAH1	HGNC	protein_coding	OTTHUMT00000256842.12	128	0.00	0	C			48395618	48395618	-1	no_errors	ENST00000356721	ensembl	human	known	69_37n	missense	37	37.29	22	SNP	1.000	T
SIAH3	283514	genome.wustl.edu	37	13	46357806	46357806	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46357806C>A	ENST00000400405.2	-	2	628	c.522G>T	c.(520-522)caG>caT	p.Q174H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	174					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CATGCCTCTCCTGTTTCCTCA	0.592																																						dbGAP											0													41.0	49.0	46.0					13																	46357806		2073	4210	6283	-	-	-	SO:0001583	missense	0				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.522G>T	13.37:g.46357806C>A	ENSP00000383256:p.Gln174His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBP0|Q8N8M6	Missense_Mutation	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like	p.Q174H	ENST00000400405.2	37	c.522	CCDS41883.1	13	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335455	0.60853	.	.	ENSG00000215475	ENST00000400405	T	0.32515	1.45	5.19	3.08	0.35506	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.38295	0.1035	M	0.73598	2.24	0.37218	D	0.905094	P	0.40476	0.718	P	0.44772	0.46	T	0.49670	-0.8915	10	0.66056	D	0.02	.	9.5939	0.39563	0.0:0.7482:0.0:0.2518	.	174	Q8IW03	SIAH3_HUMAN	H	174	ENSP00000383256:Q174H	ENSP00000383256:Q174H	Q	-	3	2	SIAH3	45255807	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	3.281000	0.51685	1.182000	0.42928	0.561000	0.74099	CAG	SIAH3	-	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like	ENSG00000215475		0.592	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAH3	HGNC	protein_coding	OTTHUMT00000044788.2	202	0.00	0	C	NM_198849		46357806	46357806	-1	no_errors	ENST00000400405	ensembl	human	known	69_37n	missense	72	32.41	35	SNP	1.000	A
SIGLEC1	6614	genome.wustl.edu	37	20	3675137	3675137	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:3675137C>T	ENST00000344754.4	-	12	2986	c.2987G>A	c.(2986-2988)gGc>gAc	p.G996D	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G996D	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	996	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCGTCCAGGGCCTGTGTCCAT	0.667																																						dbGAP											0													35.0	41.0	39.0					20																	3675137		2198	4294	6492	-	-	-	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2987G>A	20.37:g.3675137C>T	ENSP00000341141:p.Gly996Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G996D	ENST00000344754.4	37	c.2987	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025832	0.35701	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.28666	1.6;1.6	5.15	2.76	0.32466	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.172517	0.28135	N	0.016478	T	0.18551	0.0445	L	0.28274	0.84	0.27326	N	0.9569	B;B	0.21452	0.019;0.056	B;B	0.24848	0.046;0.056	T	0.10154	-1.0642	10	0.34782	T	0.22	.	5.5261	0.16959	0.0:0.6543:0.0:0.3457	.	996;996	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	D	996	ENSP00000341141:G996D;ENSP00000202578:G996D	ENSP00000202578:G996D	G	-	2	0	SIGLEC1	3623137	0.977000	0.34250	1.000000	0.80357	0.954000	0.61252	1.603000	0.36794	1.282000	0.44496	0.561000	0.74099	GGC	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000088827		0.667	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	49	0.00	0	C	NM_023068		3675137	3675137	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.853	T
SIGLEC9	27180	genome.wustl.edu	37	19	51628531	51628531	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:51628531G>A	ENST00000250360.3	+	1	367	c.300G>A	c.(298-300)aaG>aaA	p.K100K	SIGLEC9_ENST00000440804.3_Silent_p.K100K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	100	Ig-like V-type.		K -> E (in dbSNP:rs2075803). {ECO:0000269|PubMed:15489334}.		cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CACATACCAAGAATTGCACCC	0.502																																						dbGAP											0													105.0	98.0	100.0					19																	51628531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.300G>A	19.37:g.51628531G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTU4|Q9BYI9	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.K100	ENST00000250360.3	37	c.300	CCDS12825.1	19																																																																																			SIGLEC9	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000129450		0.502	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	190	0.00	0	G	NM_014441		51628531	51628531	+1	no_errors	ENST00000440804	ensembl	human	known	69_37n	silent	143	10.00	16	SNP	0.000	A
SIGLEC9	27180	genome.wustl.edu	37	19	51633301	51633301	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:51633301G>T	ENST00000250360.3	+	7	1424	c.1357G>T	c.(1357-1359)Gac>Tac	p.D453Y	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	453					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAGGCCACTGACACCGAGTA	0.582																																						dbGAP											0													65.0	63.0	64.0					19																	51633301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1357G>T	19.37:g.51633301G>T	ENSP00000250360:p.Asp453Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.D453Y	ENST00000250360.3	37	c.1357	CCDS12825.1	19	.	.	.	.	.	.	.	.	.	.	.	3.726	-0.056588	0.07362	.	.	ENSG00000129450	ENST00000250360	T	0.04706	3.57	1.96	-3.92	0.04155	.	.	.	.	.	T	0.05731	0.0150	L	0.40543	1.245	0.09310	N	1	D	0.54047	0.964	P	0.47430	0.547	T	0.14172	-1.0482	9	0.49607	T	0.09	.	8.0708	0.30689	0.3502:0.0:0.6498:0.0	.	453	Q9Y336	SIGL9_HUMAN	Y	453	ENSP00000250360:D453Y	ENSP00000250360:D453Y	D	+	1	0	SIGLEC9	56325113	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.212000	0.01225	-1.115000	0.02973	-1.347000	0.01240	GAC	SIGLEC9	-	NULL	ENSG00000129450		0.582	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	89	0.00	0	G	NM_014441		51633301	51633301	+1	no_errors	ENST00000250360	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	0.000	T
SIK3	23387	genome.wustl.edu	37	11	116747071	116747071	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:116747071A>G	ENST00000292055.4	-	8	854	c.819T>C	c.(817-819)gcT>gcC	p.A273A	SIK3_ENST00000375300.1_Silent_p.A331A|SIK3_ENST00000542607.1_Silent_p.A273A|SIK3_ENST00000446921.2_Silent_p.A331A|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.A172A	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	273					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GTTGGCATTCAGCTATTAACT	0.463																																						dbGAP											0													157.0	131.0	140.0					11																	116747071		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.819T>C	11.37:g.116747071A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonstop_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.*325R	ENST00000292055.4	37	c.973	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	A	4.152	0.026547	0.08054	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	.	.	.	5.59	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.2135	0.03954	0.2851:0.1037:0.383:0.2282	.	.	.	.	R	325;296;234	.	.	X	-	1	0	SIK3	116252281	0.036000	0.19791	0.990000	0.47175	0.378000	0.30076	-0.726000	0.04936	-0.446000	0.07149	-0.256000	0.11100	TGA	SIK3	-	superfamily_Kinase-like_dom	ENSG00000160584		0.463	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		499	0.00	0	A	NM_025164		116747071	116747071	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445177	ensembl	human	novel	69_37n	nonstop	370	12.11	51	SNP	0.965	G
SIN3A	25942	genome.wustl.edu	37	15	75694278	75694278	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:75694278C>T	ENST00000394947.3	-	10	1755	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	SIN3A_ENST00000394949.4_Missense_Mutation_p.E481K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E481K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.E481K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGGAAATTTTCGTAGGCTTCT	0.458																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											95.0	91.0	92.0					15																	75694278		2197	4294	6491	-	-	-	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1441G>A	15.37:g.75694278C>T	ENSP00000378402:p.Glu481Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.E481K	ENST00000394947.3	37	c.1441	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991377	0.93106	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	5.72	5.72	0.89469	.	0.092193	0.85682	D	0.000000	T	0.62853	0.2462	M	0.77820	2.39	0.80722	D	1	D	0.60160	0.987	P	0.53689	0.732	T	0.59473	-0.7448	10	0.24483	T	0.36	-22.2566	18.8673	0.92298	0.0:1.0:0.0:0.0	.	481	Q96ST3	SIN3A_HUMAN	K	481	ENSP00000378402:E481K;ENSP00000378403:E481K;ENSP00000353622:E481K	ENSP00000353622:E481K	E	-	1	0	SIN3A	73481331	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.996000	0.70639	2.706000	0.92434	0.467000	0.42956	GAA	SIN3A	-	pfam_PAH,superfamily_PAH	ENSG00000169375		0.458	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	258	0.00	0	C	NM_015477		75694278	75694278	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	missense	185	16.67	37	SNP	1.000	T
SIPA1L1	26037	genome.wustl.edu	37	14	72055816	72055816	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:72055816G>A	ENST00000555818.1	+	2	1575	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	SIPA1L1_ENST00000358550.2_Silent_p.E409E|SIPA1L1_ENST00000381232.3_Silent_p.E409E	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	409					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAGCAATGAGCTTGTAATGA	0.458																																						dbGAP											0													98.0	97.0	97.0					14																	72055816		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1227G>A	14.37:g.72055816G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E409	ENST00000555818.1	37	c.1227	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL	ENSG00000197555		0.458	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	520	0.00	0	G	NM_015556		72055816	72055816	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	silent	291	12.28	41	SNP	0.321	A
SIPA1L1	26037	genome.wustl.edu	37	14	72191548	72191548	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:72191548T>C	ENST00000555818.1	+	17	5021	c.4673T>C	c.(4672-4674)tTt>tCt	p.F1558S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.F1537S|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.F1537S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.F1012S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1558					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGAAGAGTTTTAAGGTACAA	0.433																																						dbGAP											0													57.0	53.0	54.0					14																	72191548		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4673T>C	14.37:g.72191548T>C	ENSP00000450832:p.Phe1558Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F1558S	ENST00000555818.1	37	c.4673	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126175	0.37533	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.54	5.54	0.83059	.	0.443128	0.26753	N	0.022676	T	0.25644	0.0624	N	0.17474	0.49	0.50632	D	0.999887	B;P;B;P;B	0.41748	0.005;0.761;0.026;0.718;0.249	B;P;B;B;B	0.45449	0.005;0.481;0.013;0.349;0.042	T	0.04373	-1.0956	10	0.19147	T	0.46	-19.2859	15.6762	0.77326	0.0:0.0:0.0:1.0	.	1012;1558;1012;1537;1558	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	1537;1558;1537;1012	ENSP00000370630:F1537S;ENSP00000450832:F1558S;ENSP00000351352:F1537S;ENSP00000440682:F1012S	ENSP00000351352:F1558S	F	+	2	0	SIPA1L1	71261301	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	5.131000	0.64751	2.102000	0.63906	0.533000	0.62120	TTT	SIPA1L1	-	pfam_DUF3401	ENSG00000197555		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	82	0.00	0	T	NM_015556		72191548	72191548	+1	no_errors	ENST00000555818	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	C
SIPA1L2	57568	genome.wustl.edu	37	1	232577041	232577041	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:232577041G>T	ENST00000366630.1	-	13	3996	c.3638C>A	c.(3637-3639)tCt>tAt	p.S1213Y	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S287Y|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1213Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1213					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTTACGTGAGAAAGCTTATT	0.488																																						dbGAP											0													323.0	328.0	327.0					1																	232577041		1878	4109	5987	-	-	-	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3638C>A	1.37:g.232577041G>T	ENSP00000355589:p.Ser1213Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.S1213Y	ENST00000366630.1	37	c.3638	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542005	0.85917	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.50548	0.74;0.74;0.74	6.16	5.24	0.73138	.	0.147081	0.46145	D	0.000317	T	0.64875	0.2638	L	0.58101	1.795	0.47441	D	0.99942	D;D	0.71674	0.991;0.998	P;D	0.65443	0.687;0.935	T	0.66885	-0.5810	10	0.52906	T	0.07	-17.929	17.4781	0.87666	0.0:0.1241:0.8759:0.0	.	1213;287	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Y	1213;1213;287	ENSP00000355589:S1213Y;ENSP00000262861:S1213Y;ENSP00000309102:S287Y	ENSP00000262861:S1213Y	S	-	2	0	SIPA1L2	230643664	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.426000	0.90273	1.583000	0.49898	0.650000	0.86243	TCT	SIPA1L2	-	NULL	ENSG00000116991		0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	140	0.00	0	G	XM_045839		232577041	232577041	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	missense	107	21.90	30	SNP	1.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232579360	232579360	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:232579360A>G	ENST00000366630.1	-	11	3783	c.3425T>C	c.(3424-3426)gTg>gCg	p.V1142A	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.V216A|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V1142A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1142					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCGTAGCCCACTTGTGGTCT	0.502																																						dbGAP											0													83.0	93.0	90.0					1																	232579360		1912	4128	6040	-	-	-	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3425T>C	1.37:g.232579360A>G	ENSP00000355589:p.Val1142Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.V1142A	ENST00000366630.1	37	c.3425	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	A	6.599	0.478823	0.12581	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.77489	-1.1;-1.1;2.83	5.75	3.4	0.38934	.	0.423582	0.24316	N	0.039600	T	0.53867	0.1823	N	0.12182	0.205	0.32125	N	0.58746	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49214	-0.8963	10	0.05959	T	0.93	-7.0736	8.694	0.34284	0.847:0.0:0.153:0.0	.	1142;216	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	A	1142;1142;216	ENSP00000355589:V1142A;ENSP00000262861:V1142A;ENSP00000309102:V216A	ENSP00000262861:V1142A	V	-	2	0	SIPA1L2	230645983	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	4.053000	0.57427	0.424000	0.26061	0.528000	0.53228	GTG	SIPA1L2	-	NULL	ENSG00000116991		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	260	0.00	0	A	XM_045839		232579360	232579360	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	missense	130	26.67	48	SNP	0.999	G
SIPA1L2	57568	genome.wustl.edu	37	1	232650068	232650068	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:232650068T>A	ENST00000366630.1	-	2	1376	c.1018A>T	c.(1018-1020)Aat>Tat	p.N340Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N340Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	340					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCGTTGATATTAAACAAAATG	0.507																																						dbGAP											0													77.0	78.0	77.0					1																	232650068		1944	4160	6104	-	-	-	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1018A>T	1.37:g.232650068T>A	ENSP00000355589:p.Asn340Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.N340Y	ENST00000366630.1	37	c.1018	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568244	0.65651	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.80738	-1.41;-1.41	5.39	5.39	0.77823	.	0.116098	0.64402	D	0.000009	D	0.86818	0.6024	L	0.59436	1.845	0.53005	D	0.999964	D	0.69078	0.997	D	0.64042	0.921	D	0.88217	0.2894	10	0.87932	D	0	-40.8284	15.5813	0.76445	0.0:0.0:0.0:1.0	.	340	Q9P2F8	SI1L2_HUMAN	Y	340	ENSP00000355589:N340Y;ENSP00000262861:N340Y	ENSP00000262861:N340Y	N	-	1	0	SIPA1L2	230716691	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.117000	0.57877	2.267000	0.75376	0.528000	0.53228	AAT	SIPA1L2	-	NULL	ENSG00000116991		0.507	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	175	0.00	0	T	XM_045839		232650068	232650068	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	missense	79	35.25	43	SNP	1.000	A
SIPA1L3	23094	genome.wustl.edu	37	19	38590710	38590710	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38590710G>A	ENST00000222345.6	+	5	2283	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	592					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.E592K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTCATCCCCGAGCTCAACAT	0.642																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											69.0	61.0	64.0					19																	38590710		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1774G>A	19.37:g.38590710G>A	ENSP00000222345:p.Glu592Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E592K	ENST00000222345.6	37	c.1774	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.895053	0.97074	.	.	ENSG00000105738	ENST00000222345	D	0.94417	-3.42	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	M	0.73372	2.23	0.80722	D	1	P	0.38078	0.617	B	0.31101	0.124	D	0.93298	0.6674	10	0.62326	D	0.03	-41.2177	19.012	0.92877	0.0:0.0:1.0:0.0	.	592	O60292	SI1L3_HUMAN	K	592	ENSP00000222345:E592K	ENSP00000222345:E592K	E	+	1	0	SIPA1L3	43282550	1.000000	0.71417	0.968000	0.41197	0.918000	0.54935	9.692000	0.98682	2.797000	0.96272	0.561000	0.74099	GAG	SIPA1L3	-	NULL	ENSG00000105738		0.642	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	86	0.00	0	G	XM_032278		38590710	38590710	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	1.000	A
SIRPG	55423	genome.wustl.edu	37	20	1616867	1616867	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:1616867G>A	ENST00000303415.3	-	3	779	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	SIRPG_ENST00000381583.2_Missense_Mutation_p.R239C|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.R206C|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.R239C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	239	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCAGTCCCACGAAGAGGGTCC	0.647																																						dbGAP											0													88.0	81.0	84.0					20																	1616867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.715C>T	20.37:g.1616867G>A	ENSP00000305529:p.Arg239Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.R239C	ENST00000303415.3	37	c.715	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	16.83	3.230531	0.58777	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.14640	2.93;2.49;4.99;4.99	1.95	0.943	0.19531	Immunoglobulin-like (1);	0.228496	0.29362	N	0.012364	T	0.29620	0.0739	M	0.84219	2.685	0.46542	D	0.999095	D;D	0.89917	0.999;1.0	D;D	0.64237	0.911;0.923	T	0.02378	-1.1168	10	0.56958	D	0.05	.	4.3155	0.10991	0.2205:0.0:0.7795:0.0	.	239;239	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	C	206;239;239;239	ENSP00000370992:R206C;ENSP00000305529:R239C;ENSP00000370995:R239C;ENSP00000216927:R239C	ENSP00000216927:R239C	R	-	1	0	SIRPG	1564867	0.952000	0.32445	0.952000	0.39060	0.599000	0.36880	3.804000	0.55568	0.142000	0.18901	0.195000	0.17529	CGT	SIRPG	-	pfscan_Ig-like	ENSG00000089012		0.647	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	424	0.00	0	G	NM_018556		1616867	1616867	-1	no_errors	ENST00000303415	ensembl	human	known	69_37n	missense	244	14.04	40	SNP	0.985	A
SIRT5	23408	genome.wustl.edu	37	6	13588578	13588578	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:13588578G>A	ENST00000606117.1	+	4	427	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q	NM_012241.4	NP_036373.1			sirtuin 5									p.R44Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCAGATTTTCGAAAGTTTTTT	0.403																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											102.0	96.0	98.0					6																	13588578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.131G>A	6.37:g.13588578G>A	ENSP00000476228:p.Arg44Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.R44Q	ENST00000606117.1	37	c.131	CCDS4526.1	6	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106034	0.77096	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.41758	0.99;0.99;0.99	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.43646	1.37	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.55222	0.771;0.733;0.705	T	0.10965	-1.0607	10	0.33141	T	0.24	-19.5395	17.7879	0.88543	0.0:0.0:1.0:0.0	.	44;44;44	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	Q	44	ENSP00000352830:R44Q;ENSP00000368564:R44Q;ENSP00000368552:R44Q	ENSP00000352830:R44Q	R	+	2	0	SIRT5	13696557	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.466000	0.80914	2.287000	0.76781	0.585000	0.79938	CGA	SIRT5	-	pfscan_NAD-dep_deAcase_sirtuin	ENSG00000124523		0.403	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT5	HGNC	protein_coding	OTTHUMT00000039908.2	179	0.00	0	G			13588578	13588578	+1	no_errors	ENST00000379250	ensembl	human	known	69_37n	missense	200	11.45	26	SNP	1.000	A
SIX6	4990	genome.wustl.edu	37	14	60976412	60976412	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:60976412C>A	ENST00000327720.5	+	1	744	c.296C>A	c.(295-297)gCt>gAt	p.A99D		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	99					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TACCAGGAGGCTGAGAAGCTG	0.567																																						dbGAP											0													46.0	49.0	48.0					14																	60976412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.296C>A	14.37:g.60976412C>A	ENSP00000328596:p.Ala99Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A99D	ENST00000327720.5	37	c.296	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	C	18.67	3.672946	0.67928	.	.	ENSG00000184302	ENST00000327720	D	0.97279	-4.32	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	H	0.97158	3.95	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.99264	1.0891	10	0.87932	D	0	.	18.6065	0.91268	0.0:1.0:0.0:0.0	.	99	O95475	SIX6_HUMAN	D	99	ENSP00000328596:A99D	ENSP00000328596:A99D	A	+	2	0	SIX6	60046165	1.000000	0.71417	0.963000	0.40424	0.157000	0.22087	7.651000	0.83577	2.873000	0.98535	0.563000	0.77884	GCT	SIX6	-	NULL	ENSG00000184302		0.567	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	79	0.00	0	C			60976412	60976412	+1	no_errors	ENST00000327720	ensembl	human	known	69_37n	missense	18	37.93	11	SNP	1.000	A
SKA1	220134	genome.wustl.edu	37	18	47902280	47902280	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:47902280G>T	ENST00000285116.3	+	2	291	c.80G>T	c.(79-81)aGa>aTa	p.R27I	SKA1_ENST00000417656.2_Missense_Mutation_p.R27I|SKA1_ENST00000488454.1_5'UTR|SKA1_ENST00000398452.2_Missense_Mutation_p.R27I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	27					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TTATCATTAAGAAACTGTGGT	0.338																																						dbGAP											0													73.0	74.0	74.0					18																	47902280		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.80G>T	18.37:g.47902280G>T	ENSP00000285116:p.Arg27Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Y6|B4E0P4	Missense_Mutation	SNP	pfam_DUF1395	p.R27I	ENST00000285116.3	37	c.80	CCDS11946.1	18	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810119	0.70797	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.64618	-0.11;-0.11;-0.11	5.84	4.79	0.61399	.	0.210868	0.47093	D	0.000258	T	0.74351	0.3705	M	0.69823	2.125	0.80722	D	1	D;D	0.69078	0.971;0.997	P;D	0.65443	0.839;0.935	T	0.76296	-0.3011	10	0.87932	D	0	-14.0592	10.6883	0.45856	0.0991:0.0:0.9009:0.0	.	27;27	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	I	27	ENSP00000285116:R27I;ENSP00000397222:R27I;ENSP00000381470:R27I	ENSP00000285116:R27I	R	+	2	0	SKA1	46156278	1.000000	0.71417	0.995000	0.50966	0.644000	0.38419	3.594000	0.54008	2.779000	0.95612	0.655000	0.94253	AGA	SKA1	-	pfam_DUF1395	ENSG00000154839		0.338	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA1	HGNC	protein_coding	OTTHUMT00000255982.2	129	0.00	0	G	NM_145060		47902280	47902280	+1	no_errors	ENST00000285116	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	1.000	T
SKA2	348235	genome.wustl.edu	37	17	57196664	57196664	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:57196664C>A	ENST00000330137.7	-	3	403				SKA2_ENST00000578105.1_Intron|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.D105Y|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|AC099850.1_ENST00000451775.1_RNA	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2						cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						TCTAACCTGTCAACTGAAAGC	0.353																																						dbGAP											0													116.0	102.0	106.0					17																	57196664		1848	4087	5935	-	-	-	SO:0001627	intron_variant	0			BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.297+15G>T	17.37:g.57196664C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	NULL	p.D105Y	ENST00000330137.7	37	c.313	CCDS45747.1	17																																																																																			SKA2	-	NULL	ENSG00000182628		0.353	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA2	HGNC	protein_coding	OTTHUMT00000445939.1	153	0.00	0	C	NM_182620		57196664	57196664	-1	no_errors	ENST00000583380	ensembl	human	novel	69_37n	missense	151	13.14	23	SNP	0.002	A
SKP2	6502	genome.wustl.edu	37	5	36152892	36152892	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:36152892C>A	ENST00000274255.6	+	2	224	c.28C>A	c.(28-30)Cca>Aca	p.P10T	SKP2_ENST00000274254.5_Missense_Mutation_p.P10T|SKP2_ENST00000546211.1_5'UTR|RNU6-1305P_ENST00000364353.1_RNA|LMBRD2_ENST00000296603.4_5'Flank|SKP2_ENST00000508514.1_Missense_Mutation_p.P10T	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAGGAGATTCCAGACCTGAG	0.512																																						dbGAP											0													75.0	71.0	72.0					5																	36152892		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.28C>A	5.37:g.36152892C>A	ENSP00000274255:p.Pro10Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.P10T	ENST00000274255.6	37	c.28	CCDS3916.1	5	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300250	0.60195	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000508514;ENST00000513151	T;T;T;T	0.44083	2.95;3.02;0.93;1.28	5.88	4.96	0.65561	.	0.110930	0.64402	D	0.000007	T	0.35770	0.0943	L	0.29908	0.895	0.80722	D	1	P;P	0.51537	0.946;0.911	B;B	0.43155	0.41;0.232	T	0.28870	-1.0030	10	0.72032	D	0.01	-23.5398	15.8372	0.78808	0.1364:0.8636:0.0:0.0	.	10;10	Q13309-2;Q13309	.;SKP2_HUMAN	T	10	ENSP00000274254:P10T;ENSP00000274255:P10T;ENSP00000421941:P10T;ENSP00000423188:P10T	ENSP00000274254:P10T	P	+	1	0	SKP2	36188649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.314000	0.51943	2.785000	0.95823	0.650000	0.86243	CCA	SKP2	-	NULL	ENSG00000145604		0.512	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SKP2	HGNC	protein_coding	OTTHUMT00000253769.2	113	0.00	0	C	NM_005983		36152892	36152892	+1	no_errors	ENST00000274255	ensembl	human	known	69_37n	missense	73	26.26	26	SNP	1.000	A
SKIV2L2	23517	genome.wustl.edu	37	5	54710022	54710022	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:54710022C>T	ENST00000230640.5	+	24	3018	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P821S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	922					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TAGTGAGATGCCCAAATTAAC	0.299																																					Melanoma(2;92 134 23744 29976 33782)	dbGAP											0													149.0	145.0	146.0					5																	54710022		2203	4300	6503	-	-	-	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2764C>T	5.37:g.54710022C>T	ENSP00000230640:p.Pro922Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P922S	ENST00000230640.5	37	c.2764	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449162	0.63178	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.24538	1.85;1.85	5.42	5.42	0.78866	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.84773	2.715	0.80722	D	1	P;B	0.42961	0.795;0.374	B;B	0.36335	0.222;0.152	T	0.50684	-0.8799	10	0.62326	D	0.03	-19.1472	19.5742	0.95434	0.0:1.0:0.0:0.0	.	821;922	F5H7E2;P42285	.;SK2L2_HUMAN	S	922;821	ENSP00000230640:P922S;ENSP00000442583:P821S	ENSP00000230640:P922S	P	+	1	0	SKIV2L2	54745779	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.375000	0.79646	2.698000	0.92095	0.591000	0.81541	CCC	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000039123		0.299	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	523	0.00	0	C			54710022	54710022	+1	no_errors	ENST00000230640	ensembl	human	known	69_37n	missense	317	23.74	99	SNP	1.000	T
SLAMF8	56833	genome.wustl.edu	37	1	159802730	159802730	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:159802730G>T	ENST00000289707.5	+	3	581	c.432G>T	c.(430-432)aaG>aaT	p.K144N	SLAMF8_ENST00000368104.4_Missense_Mutation_p.K35N|C1orf204_ENST00000491974.1_5'Flank|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	144	Ig-like C2-type.				cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					AGCCCTCCAAGACCTGCCAGG	0.527																																						dbGAP											0													98.0	101.0	100.0					1																	159802730		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.432G>T	1.37:g.159802730G>T	ENSP00000289707:p.Lys144Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MC6|Q5VU15	Missense_Mutation	SNP	pfscan_Ig-like	p.K144N	ENST00000289707.5	37	c.432	CCDS1188.1	1	.	.	.	.	.	.	.	.	.	.	G	0.198	-1.047526	0.01981	.	.	ENSG00000158714	ENST00000289707;ENST00000368104	T;T	0.38240	1.15;1.15	4.87	-1.16	0.09678	Immunoglobulin-like (1);	0.731197	0.13485	N	0.384414	T	0.05547	0.0146	N	0.17474	0.49	0.09310	N	0.999999	B	0.12013	0.005	B	0.16722	0.016	T	0.39461	-0.9613	10	0.25106	T	0.35	-2.2173	3.4019	0.07327	0.1589:0.2861:0.4376:0.1173	.	144	Q9P0V8	SLAF8_HUMAN	N	144;35	ENSP00000289707:K144N;ENSP00000357084:K35N	ENSP00000289707:K144N	K	+	3	2	SLAMF8	158069354	0.736000	0.28164	0.007000	0.13788	0.009000	0.06853	0.091000	0.15046	-0.752000	0.04728	-0.813000	0.03139	AAG	SLAMF8	-	pfscan_Ig-like	ENSG00000158714		0.527	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF8	HGNC	protein_coding	OTTHUMT00000085983.1	177	0.00	0	G	NM_020125		159802730	159802730	+1	no_errors	ENST00000289707	ensembl	human	known	69_37n	missense	191	11.16	24	SNP	0.030	T
SLC12A1	6557	genome.wustl.edu	37	15	48513188	48513188	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:48513188G>A	ENST00000558405.1	+	3	637	c.623G>A	c.(622-624)gGa>gAa	p.G208E	SLC12A1_ENST00000396577.3_Missense_Mutation_p.G208E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G208E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G208E|SLC12A1_ENST00000561031.1_Missense_Mutation_p.G208E			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	208					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGAGAAGCTGGAATTGGTAAG	0.393																																						dbGAP											0													106.0	103.0	104.0					15																	48513188		2198	4297	6495	-	-	-	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.623G>A	15.37:g.48513188G>A	ENSP00000453409:p.Gly208Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G208E	ENST00000558405.1	37	c.623	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	32	5.119247	0.94385	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.99311	-5.73;-5.73;-5.73	5.96	5.96	0.96718	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97318	0.9942	10	0.87932	D	0	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	208;208	Q8IUN5;Q13621	.;S12A1_HUMAN	E	21;208;208;208	ENSP00000370381:G208E;ENSP00000379822:G208E;ENSP00000331550:G208E	ENSP00000331550:G208E	G	+	2	0	SLC12A1	46300480	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GGA	SLC12A1	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.393	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	169	0.00	0	G			48513188	48513188	+1	no_errors	ENST00000380993	ensembl	human	known	69_37n	missense	115	11.54	15	SNP	1.000	A
SLC12A1	6557	genome.wustl.edu	37	15	48521450	48521450	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:48521450C>A	ENST00000558405.1	+	5	803	c.789C>A	c.(787-789)atC>atA	p.I263I	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Silent_p.I263I|SLC12A1_ENST00000330289.6_Silent_p.I263I|SLC12A1_ENST00000380993.3_Silent_p.I263I			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	263					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TAGGCCTGATCTTTGCTTTTG	0.408																																						dbGAP											0													136.0	118.0	124.0					15																	48521450		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.789C>A	15.37:g.48521450C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8JYA2|E9PDW4	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I263	ENST00000558405.1	37	c.789	CCDS10129.2	15																																																																																			SLC12A1	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.408	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	443	0.00	0	C			48521450	48521450	+1	no_errors	ENST00000380993	ensembl	human	known	69_37n	silent	245	35.70	136	SNP	1.000	A
SLC12A3	6559	genome.wustl.edu	37	16	56936405	56936405	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:56936405G>A	ENST00000563236.1	+	24	2866	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	SLC12A3_ENST00000262502.5_Silent_p.T946T|SLC12A3_ENST00000566786.1_Silent_p.T955T|SLC12A3_ENST00000438926.2_Silent_p.T956T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	947					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.T956T(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGGAGATTACGAAGAACAGAG	0.582																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											75.0	67.0	69.0					16																	56936405		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2841G>A	16.37:g.56936405G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.T956	ENST00000563236.1	37	c.2868	CCDS58464.1	16																																																																																			SLC12A3	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	72	0.00	0	G			56936405	56936405	+1	no_errors	ENST00000438926	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.019	A
SLC12A6	9990	genome.wustl.edu	37	15	34534357	34534357	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:34534357G>A	ENST00000354181.3	-	17	2600	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V	SLC12A6_ENST00000397702.2_Missense_Mutation_p.A644V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A515V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A515V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A652V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A703V|SLC12A6_ENST00000397707.2_Missense_Mutation_p.A688V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A694V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A644V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A703V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	703					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGCTACAATGGCATAATACCA	0.363																																						dbGAP											0													132.0	123.0	126.0					15																	34534357		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2108C>T	15.37:g.34534357G>A	ENSP00000346112:p.Ala703Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A694V	ENST00000354181.3	37	c.2081	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.203725	0.95033	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37	4.93	4.93	0.64822	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.95982	3.75	0.80722	D	1	D;D;D;D	0.89917	0.996;0.998;0.997;1.0	P;D;D;D	0.79784	0.899;0.976;0.992;0.993	D	0.98047	1.0385	10	0.87932	D	0	.	17.072	0.86577	0.0:0.0:1.0:0.0	.	688;703;652;515	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	V	652;688;694;644;644;515	ENSP00000290209:A652V;ENSP00000380819:A688V;ENSP00000380814:A644V;ENSP00000387725:A644V;ENSP00000390199:A515V	ENSP00000290209:A652V	A	-	2	0	SLC12A6	32321649	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.569000	0.86673	0.561000	0.74099	GCC	SLC12A6	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.363	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	169	0.00	0	G	NM_005135		34534357	34534357	-1	no_errors	ENST00000558589	ensembl	human	known	69_37n	missense	92	33.33	46	SNP	1.000	A
SLC12A8	84561	genome.wustl.edu	37	3	124906179	124906179	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:124906179G>A	ENST00000393469.4	-	3	341	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R98C|SLC12A8_ENST00000423114.2_Missense_Mutation_p.R127C	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	98					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ATGCTGCTGCGCTCCCCGACG	0.632																																						dbGAP											0													65.0	88.0	80.0					3																	124906179		2178	4281	6459	-	-	-	SO:0001583	missense	0				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.292C>T	3.37:g.124906179G>A	ENSP00000377112:p.Arg98Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.R127C	ENST00000393469.4	37	c.379	CCDS43143.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.609086|2.609086	0.46527|0.46527	.|.	.|.	ENSG00000221955|ENSG00000221955	ENST00000479826|ENST00000393469;ENST00000423114;ENST00000469902;ENST00000462437	T|D;D;D;D	0.77877|0.98666	-1.13|-5.06;-5.06;-5.06;-5.06	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Amino acid permease domain (1);	.|.	.|.	.|.	.|.	D|D	0.96725|0.96725	0.8931|0.8931	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33857	.|0.429;0.013	.|B;B	.|0.32289	.|0.143;0.016	D|D	0.96081|0.96081	0.9054|0.9054	6|9	.|0.59425	.|D	.|0.04	.|.	13.0506|13.0506	0.58952|0.58952	0.0:0.0:0.7421:0.2579|0.0:0.0:0.7421:0.2579	.|.	.|127;98	.|A0AV02-2;A0AV02	.|.;S12A8_HUMAN	V|C	57|98;127;98;66	ENSP00000420197:A57V|ENSP00000377112:R98C;ENSP00000404243:R127C;ENSP00000418783:R98C;ENSP00000418636:R66C	.|ENSP00000377112:R98C	A|R	-|-	2|1	0|0	SLC12A8|SLC12A8	126388869|126388869	1.000000|1.000000	0.71417|0.71417	0.149000|0.149000	0.22428|0.22428	0.290000|0.290000	0.27261|0.27261	4.182000|4.182000	0.58310|0.58310	2.703000|2.703000	0.92315|0.92315	0.637000|0.637000	0.83480|0.83480	GCG|CGC	SLC12A8	-	pfam_AA-permease_dom	ENSG00000221955		0.632	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	149	0.00	0	G	NM_024628		124906179	124906179	-1	no_errors	ENST00000423114	ensembl	human	known	69_37n	missense	82	28.81	34	SNP	0.993	A
SLC13A1	6561	genome.wustl.edu	37	7	122759256	122759256	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:122759256G>T	ENST00000194130.2	-	13	1430	c.1391C>A	c.(1390-1392)cCt>cAt	p.P464H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	464					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGAACCCAGAGGAGATAATTT	0.338																																						dbGAP											0													80.0	84.0	83.0					7																	122759256		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1391C>A	7.37:g.122759256G>T	ENSP00000194130:p.Pro464His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.P464H	ENST00000194130.2	37	c.1391	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760715	0.89932	.	.	ENSG00000081800	ENST00000194130	T	0.02974	4.09	5.53	5.53	0.82687	.	0.102265	0.64402	D	0.000002	T	0.17959	0.0431	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01786	-1.1274	10	0.28530	T	0.3	-14.4389	18.4277	0.90614	0.0:0.0:1.0:0.0	.	464;464	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	464	ENSP00000194130:P464H	ENSP00000194130:P464H	P	-	2	0	SLC13A1	122546492	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.578000	0.98200	2.591000	0.87537	0.591000	0.81541	CCT	SLC13A1	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000081800		0.338	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	333	0.00	0	G	NM_022444		122759256	122759256	-1	no_errors	ENST00000194130	ensembl	human	known	69_37n	missense	224	13.18	34	SNP	1.000	T
SLC13A3	64849	genome.wustl.edu	37	20	45239120	45239120	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45239120C>T	ENST00000279027.4	-	3	524	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	SLC13A3_ENST00000417157.2_Missense_Mutation_p.R122Q|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R122Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R169Q|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R122Q|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R122Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R122Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R169Q|SLC13A3_ENST00000339636.3_Missense_Mutation_p.R169Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	169					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGTCCTTTCGAACCTCCTT	0.537																																						dbGAP											0													240.0	227.0	231.0					20																	45239120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.506G>A	20.37:g.45239120C>T	ENSP00000279027:p.Arg169Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.R169Q	ENST00000279027.4	37	c.506	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	C	8.198	0.797449	0.16327	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.32988	3.85;3.85;4.13;3.85;3.62;3.85;3.27;2.9;2.89;1.43;2.43	5.36	-10.7	0.00240	.	5.163230	0.00357	N	0.000022	T	0.15003	0.0362	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.0;0.0;0.008;0.0	B;B;B;B;B	0.12837	0.005;0.002;0.002;0.008;0.003	T	0.08534	-1.0717	10	0.12103	T	0.63	0.0	11.2213	0.48857	0.0:0.2188:0.2735:0.5077	.	169;122;122;122;169	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	Q	122;122;169;122;169;122;122;132;169;122;169	ENSP00000290317:R122Q;ENSP00000379648:R122Q;ENSP00000279027:R169Q;ENSP00000420177:R122Q;ENSP00000415852:R169Q;ENSP00000419621:R122Q;ENSP00000417784:R122Q;ENSP00000395095:R132Q;ENSP00000361193:R169Q;ENSP00000397955:R122Q;ENSP00000344912:R169Q	ENSP00000279027:R169Q	R	-	2	0	SLC13A3	44672527	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	0.088000	0.14979	-2.726000	0.00386	-0.670000	0.03821	CGA	SLC13A3	-	pfam_Na/sul_symport	ENSG00000158296		0.537	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	533	0.19	1	C			45239120	45239120	-1	no_errors	ENST00000279027	ensembl	human	known	69_37n	missense	279	23.29	85	SNP	0.000	T
SLC13A3	64849	genome.wustl.edu	37	20	45239205	45239205	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45239205A>G	ENST00000279027.4	-	3	439	c.421T>C	c.(421-423)Tgg>Cgg	p.W141R	SLC13A3_ENST00000417157.2_Missense_Mutation_p.W94R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.W94R|SLC13A3_ENST00000372121.1_Missense_Mutation_p.W141R|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000290317.5_Missense_Mutation_p.W94R|SLC13A3_ENST00000495082.1_Missense_Mutation_p.W94R|SLC13A3_ENST00000472148.1_Missense_Mutation_p.W94R|SLC13A3_ENST00000413164.2_Missense_Mutation_p.W141R|SLC13A3_ENST00000339636.3_Missense_Mutation_p.W141R	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	141					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTGCTCAGCCACATGGACAAG	0.557																																						dbGAP											0													167.0	147.0	154.0					20																	45239205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.421T>C	20.37:g.45239205A>G	ENSP00000279027:p.Trp141Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.W141R	ENST00000279027.4	37	c.421	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634012	0.87660	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121;ENST00000417157;ENST00000339636	T;T;T;T;T;T;T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09;4.09;4.09;4.09;4.09;4.09;4.09	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	H	0.97131	3.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.43637	-0.9379	10	0.87932	D	0	-11.6386	16.1297	0.81418	1.0:0.0:0.0:0.0	.	141;94;94;94;141	B4DIR8;Q8WWT9-3;F6WI18;C9J4A3;Q8WWT9	.;.;.;.;S13A3_HUMAN	R	94;94;141;94;141;94;94;104;141;94;141	ENSP00000290317:W94R;ENSP00000379648:W94R;ENSP00000279027:W141R;ENSP00000420177:W94R;ENSP00000415852:W141R;ENSP00000419621:W94R;ENSP00000417784:W94R;ENSP00000395095:W104R;ENSP00000361193:W141R;ENSP00000397955:W94R;ENSP00000344912:W141R	ENSP00000279027:W141R	W	-	1	0	SLC13A3	44672612	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.287000	0.95975	2.270000	0.75569	0.460000	0.39030	TGG	SLC13A3	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000158296		0.557	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	447	0.22	1	A			45239205	45239205	-1	no_errors	ENST00000279027	ensembl	human	known	69_37n	missense	268	11.40	35	SNP	1.000	G
SLC14A2	8170	genome.wustl.edu	37	18	43247820	43247820	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:43247820C>A	ENST00000255226.6	+	14	2556	c.1740C>A	c.(1738-1740)ttC>ttA	p.F580L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.F580L|SLC14A2_ENST00000589658.1_Missense_Mutation_p.F57L|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	580					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTCCAGTTCTTTGACTGGG	0.577																																						dbGAP											0													131.0	121.0	124.0					18																	43247820		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1740C>A	18.37:g.43247820C>A	ENSP00000255226:p.Phe580Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.F580L	ENST00000255226.6	37	c.1740	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	c	9.551	1.115835	0.20795	.	.	ENSG00000132874	ENST00000255226	T	0.50277	0.75	4.22	-1.07	0.09968	.	0.000000	0.51477	D	0.000092	T	0.46308	0.1386	L	0.58669	1.825	0.80722	D	1	B	0.16166	0.016	B	0.37144	0.242	T	0.40308	-0.9570	10	0.37606	T	0.19	-24.8659	10.8935	0.47008	0.0:0.5976:0.0:0.4024	.	580	Q15849	UT2_HUMAN	L	580	ENSP00000255226:F580L	ENSP00000255226:F580L	F	+	3	2	SLC14A2	41501818	0.001000	0.12720	0.557000	0.28306	0.474000	0.32979	-0.398000	0.07259	-0.087000	0.12528	-0.260000	0.10688	TTC	SLC14A2	-	pfam_Urea_transporter	ENSG00000132874		0.577	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	222	0.00	0	C			43247820	43247820	+1	no_errors	ENST00000255226	ensembl	human	known	69_37n	missense	155	15.76	29	SNP	0.041	A
SLC14A2	8170	genome.wustl.edu	37	18	43262473	43262473	+	Missense_Mutation	SNP	G	G	A	rs368161253		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:43262473G>A	ENST00000255226.6	+	20	3568	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	SLC14A2_ENST00000586448.1_Missense_Mutation_p.D918N|SLC14A2_ENST00000589658.1_Missense_Mutation_p.D395N|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	918					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.D918N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGGCCTACGATGTCTCCTA	0.498																																						dbGAP											1	Substitution - Missense(1)	lung(1)											124.0	114.0	117.0					18																	43262473		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2752G>A	18.37:g.43262473G>A	ENSP00000255226:p.Asp918Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.D918N	ENST00000255226.6	37	c.2752	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181538	0.57800	.	.	ENSG00000132874	ENST00000255226	T	0.37411	1.2	4.82	4.82	0.62117	.	0.205992	0.33916	N	0.004440	T	0.32763	0.0840	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.44597	0.454	T	0.16453	-1.0402	10	0.66056	D	0.02	-8.069	13.7458	0.62874	0.0:0.0:1.0:0.0	.	918	Q15849	UT2_HUMAN	N	918	ENSP00000255226:D918N	ENSP00000255226:D918N	D	+	1	0	SLC14A2	41516471	0.886000	0.30341	0.950000	0.38849	0.182000	0.23217	4.670000	0.61583	2.362000	0.80069	0.561000	0.74099	GAT	SLC14A2	-	NULL	ENSG00000132874		0.498	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	203	0.00	0	G			43262473	43262473	+1	no_errors	ENST00000255226	ensembl	human	known	69_37n	missense	206	16.19	40	SNP	0.925	A
SLC16A1	6566	genome.wustl.edu	37	1	113464717	113464717	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:113464717G>A	ENST00000538576.1	-	3	1087	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	SLC16A1_ENST00000433570.4_Missense_Mutation_p.R86C|SLC16A1_ENST00000369626.3_Missense_Mutation_p.R86C	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	86					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ATGACTATACGACTTCCATAT	0.408																																						dbGAP											0													119.0	99.0	106.0					1																	113464717		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.256C>T	1.37:g.113464717G>A	ENSP00000441065:p.Arg86Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.R86C	ENST00000538576.1	37	c.256	CCDS858.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362212	0.61403	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87873	0.6287	H	0.96833	3.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90955	0.4808	10	0.87932	D	0	.	19.8655	0.96803	0.0:0.0:1.0:0.0	.	86;86	Q49A45;P53985	.;MOT1_HUMAN	C	86	ENSP00000358640:R86C;ENSP00000441065:R86C;ENSP00000416167:R86C;ENSP00000445061:R86C;ENSP00000399104:R86C;ENSP00000397106:R86C	ENSP00000358640:R86C	R	-	1	0	SLC16A1	113266240	1.000000	0.71417	0.998000	0.56505	0.226000	0.24999	4.478000	0.60230	2.793000	0.96121	0.591000	0.81541	CGT	SLC16A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000155380		0.408	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A1	HGNC	protein_coding	OTTHUMT00000033539.1	208	0.00	0	G	NM_003051		113464717	113464717	-1	no_errors	ENST00000369626	ensembl	human	known	69_37n	missense	184	13.15	28	SNP	1.000	A
SLC16A10	117247	genome.wustl.edu	37	6	111527814	111527814	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:111527814G>T	ENST00000368851.5	+	4	1137	c.962G>T	c.(961-963)aGa>aTa	p.R321I	SLC16A10_ENST00000368850.3_Missense_Mutation_p.R7I	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	321					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GTAAATGAAAGATTTCAAGAT	0.383																																						dbGAP											0													125.0	123.0	123.0					6																	111527814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.962G>T	6.37:g.111527814G>T	ENSP00000357844:p.Arg321Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R321I	ENST00000368851.5	37	c.962	CCDS5089.1	6	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531892	0.45073	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.58797	0.31;1.81	5.44	-0.151	0.13411	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.237465	0.48767	D	0.000175	T	0.29093	0.0723	L	0.38175	1.15	0.58432	D	0.999999	B	0.27765	0.188	B	0.38755	0.281	T	0.08889	-1.0700	10	0.33940	T	0.23	.	6.0841	0.19958	0.3201:0.1209:0.559:0.0	.	321	Q8TF71	MOT10_HUMAN	I	321;7	ENSP00000357844:R321I;ENSP00000357843:R7I	ENSP00000357843:R7I	R	+	2	0	SLC16A10	111634507	0.851000	0.29673	0.940000	0.37924	0.958000	0.62258	0.257000	0.18369	-0.088000	0.12506	0.313000	0.20887	AGA	SLC16A10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112394		0.383	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A10	HGNC	protein_coding	OTTHUMT00000041822.2	248	0.00	0	G			111527814	111527814	+1	no_errors	ENST00000368851	ensembl	human	known	69_37n	missense	176	26.97	65	SNP	0.955	T
SLC16A10	117247	genome.wustl.edu	37	6	111543214	111543214	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:111543214C>T	ENST00000368851.5	+	6	1499	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	SLC16A10_ENST00000368850.3_Missense_Mutation_p.R128C	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	442					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	AGGGTTACTTCGTGACAAACT	0.502																																						dbGAP											0													117.0	112.0	114.0					6																	111543214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1324C>T	6.37:g.111543214C>T	ENSP00000357844:p.Arg442Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R442C	ENST00000368851.5	37	c.1324	CCDS5089.1	6	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931580	0.52866	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.38240	1.15;1.15	5.52	2.62	0.31277	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.348037	0.29814	N	0.011137	T	0.33323	0.0859	L	0.55743	1.74	0.26933	N	0.966417	D	0.76494	0.999	D	0.67725	0.953	T	0.08086	-1.0739	10	0.62326	D	0.03	.	7.3796	0.26847	0.1273:0.6829:0.1227:0.0671	.	442	Q8TF71	MOT10_HUMAN	C	442;128	ENSP00000357844:R442C;ENSP00000357843:R128C	ENSP00000357843:R128C	R	+	1	0	SLC16A10	111649907	0.994000	0.37717	0.157000	0.22605	0.854000	0.48673	3.577000	0.53885	0.657000	0.30906	0.655000	0.94253	CGT	SLC16A10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112394		0.502	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A10	HGNC	protein_coding	OTTHUMT00000041822.2	255	0.00	0	C			111543214	111543214	+1	no_errors	ENST00000368851	ensembl	human	known	69_37n	missense	169	13.33	26	SNP	0.259	T
SLC16A2	6567	genome.wustl.edu	37	X	73749120	73749120	+	Missense_Mutation	SNP	G	G	A	rs1049487		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:73749120G>A	ENST00000587091.1	+	5	1420	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	SLC16A2_ENST00000276033.5_Missense_Mutation_p.V489I	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	415					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGGCCTTATCGTCGTCTGTCT	0.577													G|||	1	0.000264901	0.0	0.0014	3775	,	,		13284	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													114.0	100.0	105.0					X																	73749120		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1243G>A	X.37:g.73749120G>A	ENSP00000465734:p.Val415Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V489I	ENST00000587091.1	37	c.1465	CCDS14426.2	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.91	3.724568	0.68959	.	.	ENSG00000147100	ENST00000276033	T	0.58506	0.33	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	L	0.46741	1.465	0.58432	D	0.999999	P	0.38535	0.635	B	0.38458	0.274	T	0.49409	-0.8943	10	0.19590	T	0.45	.	18.3365	0.90290	0.0:0.0:1.0:0.0	rs1049487;rs3189655;rs52810835;rs1049487	415	P36021	MOT8_HUMAN	I	489	ENSP00000276033:V489I	ENSP00000276033:V489I	V	+	1	0	SLC16A2	73665845	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.649000	0.83500	2.269000	0.75478	0.529000	0.55759	GTC	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000147100		0.577	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	667	0.00	0	G			73749120	73749120	+1	no_errors	ENST00000276033	ensembl	human	known	69_37n	missense	402	11.96	55	SNP	1.000	A
SLC16A2	6567	genome.wustl.edu	37	X	73749122	73749122	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:73749122C>T	ENST00000587091.1	+	5	1422	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	SLC16A2_ENST00000276033.5_Silent_p.V489V	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	415					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GCCTTATCGTCGTCTGTCTTT	0.577																																						dbGAP											0													114.0	101.0	105.0					X																	73749122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1245C>T	X.37:g.73749122C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z797	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V489	ENST00000587091.1	37	c.1467	CCDS14426.2	X																																																																																			SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000147100		0.577	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	661	0.00	0	C			73749122	73749122	+1	no_errors	ENST00000276033	ensembl	human	known	69_37n	silent	361	20.66	94	SNP	0.994	T
SLC16A6	9120	genome.wustl.edu	37	17	66274363	66274363	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:66274363G>A	ENST00000327268.4	-	3	263	c.99C>T	c.(97-99)ttC>ttT	p.F33F	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.F33F	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	33					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGACTTCAACGAAGAAAAATG	0.398																																						dbGAP											0													99.0	96.0	97.0					17																	66274363		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.99C>T	17.37:g.66274363G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1X3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F33	ENST00000327268.4	37	c.99	CCDS11675.1	17																																																																																			SLC16A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000108932		0.398	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	HGNC	protein_coding	OTTHUMT00000448323.1	161	0.00	0	G	NM_004694		66274363	66274363	-1	no_errors	ENST00000327268	ensembl	human	known	69_37n	silent	149	12.28	21	SNP	0.993	A
SLC16A7	9194	genome.wustl.edu	37	12	60168690	60168690	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:60168690C>A	ENST00000261187.4	+	4	778	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	SLC16A7_ENST00000547379.1_Missense_Mutation_p.S205Y|SLC16A7_ENST00000543448.1_Missense_Mutation_p.S106Y|SLC16A7_ENST00000552432.1_Missense_Mutation_p.S205Y|SLC16A7_ENST00000552024.1_Missense_Mutation_p.S205Y	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	205					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CAAACCACTTCTAAGTCTAAA	0.388																																						dbGAP											0													39.0	40.0	40.0					12																	60168690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.614C>A	12.37:g.60168690C>A	ENSP00000261187:p.Ser205Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S205Y	ENST00000261187.4	37	c.614	CCDS8961.1	12	.	.	.	.	.	.	.	.	.	.	C	8.839	0.941874	0.18281	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35	3.97	-3.97	0.04094	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	4.568540	0.00424	N	0.000070	T	0.52403	0.1732	L	0.49126	1.545	0.09310	N	1	P	0.52170	0.951	P	0.53266	0.722	T	0.49916	-0.8888	9	.	.	.	.	0.8058	0.01084	0.2563:0.3606:0.128:0.2551	.	205	O60669	MOT2_HUMAN	Y	205;205;205;205;205;106;90	ENSP00000449547:S205Y;ENSP00000448071:S205Y;ENSP00000448742:S205Y;ENSP00000446722:S205Y;ENSP00000261187:S205Y;ENSP00000443731:S106Y;ENSP00000447814:S90Y	.	S	+	2	0	SLC16A7	58454957	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	0.340000	0.19892	-1.035000	0.03291	0.650000	0.86243	TCT	SLC16A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000118596		0.388	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A7	HGNC	protein_coding	OTTHUMT00000406587.1	172	0.00	0	C	NM_004731		60168690	60168690	+1	no_errors	ENST00000261187	ensembl	human	known	69_37n	missense	90	26.83	33	SNP	0.000	A
SLC18A2	6571	genome.wustl.edu	37	10	119027222	119027222	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:119027222G>A	ENST00000298472.5	+	13	1304	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	387					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCATAGCTCCGAACTTTGGAG	0.383																																						dbGAP											0													96.0	91.0	93.0					10																	119027222		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1161G>A	10.37:g.119027222G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P387	ENST00000298472.5	37	c.1161	CCDS7599.1	10																																																																																			SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.383	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	310	0.00	0	G	NM_003054		119027222	119027222	+1	no_errors	ENST00000298472	ensembl	human	known	69_37n	silent	256	27.27	96	SNP	1.000	A
SLC19A2	10560	genome.wustl.edu	37	1	169446716	169446716	+	Nonsense_Mutation	SNP	G	G	A	rs74315373		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:169446716G>A	ENST00000236137.5	-	2	720	c.484C>T	c.(484-486)Cga>Tga	p.R162*	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	162					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	GTGGCACTTCGACAGTAACTT	0.483																																						dbGAP											0			GRCh37	CM991264	SLC19A2	M	rs74315373						87.0	90.0	89.0					1																	169446716		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.484C>T	1.37:g.169446716G>A	ENSP00000236137:p.Arg162*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Nonsense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	p.R162*	ENST00000236137.5	37	c.484	CCDS1280.1	1	.	.	.	.	.	.	.	.	.	.	G	37	5.996997	0.97184	.	.	ENSG00000117479	ENST00000236137;ENST00000367802	.	.	.	4.87	1.55	0.23275	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5896	14.5816	0.68295	0.0:0.0:0.6035:0.3965	.	.	.	.	X	162	.	ENSP00000236137:R162X	R	-	1	2	SLC19A2	167713340	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.888000	0.39708	0.591000	0.29711	0.650000	0.86243	CGA	SLC19A2	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier	ENSG00000117479		0.483	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A2	HGNC	protein_coding	OTTHUMT00000086106.1	155	0.00	0	G	NM_006996		169446716	169446716	-1	no_errors	ENST00000236137	ensembl	human	known	69_37n	nonsense	98	29.50	41	SNP	1.000	A
SLC1A3	6507	genome.wustl.edu	37	5	36677236	36677236	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:36677236C>A	ENST00000265113.4	+	6	1286	c.810C>A	c.(808-810)ttC>ttA	p.F270L	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.F270L	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	270					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGAGAGTTCTTTGATTCTC	0.418																																						dbGAP											0													120.0	118.0	119.0					5																	36677236		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.810C>A	5.37:g.36677236C>A	ENSP00000265113:p.Phe270Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.F270L	ENST00000265113.4	37	c.810	CCDS3919.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803030	0.90623	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.59083	0.29;0.29	5.92	5.92	0.95590	.	0.041188	0.85682	D	0.000000	T	0.63604	0.2525	L	0.43554	1.36	0.53688	D	0.999978	B;D	0.60160	0.171;0.987	B;P	0.59643	0.241;0.861	T	0.64368	-0.6424	10	0.59425	D	0.04	-24.4582	10.6463	0.45621	0.0:0.8584:0.0:0.1416	.	270;270	Q4JCQ8;P43003	.;EAA1_HUMAN	L	270;218;270	ENSP00000265113:F270L;ENSP00000371343:F270L	ENSP00000265113:F270L	F	+	3	2	SLC1A3	36712993	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.370000	0.52372	2.809000	0.96659	0.655000	0.94253	TTC	SLC1A3	-	pfam_Na-dicarboxylate_symporter	ENSG00000079215		0.418	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	274	0.00	0	C	NM_004172		36677236	36677236	+1	no_errors	ENST00000265113	ensembl	human	known	69_37n	missense	169	29.88	72	SNP	1.000	A
SLC1A6	6511	genome.wustl.edu	37	19	15075174	15075174	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:15075174C>T	ENST00000221742.3	-	4	556		c.e4-1		SLC1A6_ENST00000430939.2_Splice_Site|SLC1A6_ENST00000544886.2_Splice_Site|SLC1A6_ENST00000600144.1_Splice_Site|SLC1A6_ENST00000598504.1_Splice_Site	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6						aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AAACATATTTCTGCAGAAAAA	0.463																																						dbGAP											0													208.0	201.0	203.0					19																	15075174		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.549-1G>A	19.37:g.15075174C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N753	Splice_Site	SNP	-	e4-1	ENST00000221742.3	37	c.549-1	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677237	0.68042	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886;ENST00000542610	.	.	.	3.9	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3883	0.60809	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC1A6	14936174	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.158000	0.77470	2.005000	0.58758	0.491000	0.48974	.	SLC1A6	-	-	ENSG00000105143		0.463	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	502	0.00	0	C	NM_005071	Intron	15075174	15075174	-1	no_errors	ENST00000221742	ensembl	human	known	69_37n	splice_site	468	14.60	80	SNP	1.000	T
SLC1A6	6511	genome.wustl.edu	37	19	15083559	15083559	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:15083559C>T	ENST00000221742.3	-	1	171	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	SLC1A6_ENST00000430939.2_Silent_p.P59P|SLC1A6_ENST00000544886.2_Missense_Mutation_p.R55Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R55Q|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R55Q	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	55					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GAAGGCGTTTCGGCGCAGGAA	0.642																																						dbGAP											0													29.0	29.0	29.0					19																	15083559		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.164G>A	19.37:g.15083559C>T	ENSP00000221742:p.Arg55Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R55Q	ENST00000221742.3	37	c.164	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575129	0.45902	.	.	ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610	T;T	0.56941	0.43;1.17	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	L	0.27053	0.805	0.43351	D	0.995415	D;D;B	0.76494	0.997;0.999;0.449	D;D;B	0.66084	0.914;0.941;0.029	T	0.57046	-0.7878	10	0.46703	T	0.11	-18.6393	12.4519	0.55681	0.0:1.0:0.0:0.0	.	55;56;55	Q8N753;Q59GB0;P48664	.;.;EAA4_HUMAN	Q	55;55;56	ENSP00000221742:R55Q;ENSP00000446175:R55Q	ENSP00000221742:R55Q	R	-	2	0	SLC1A6	14944559	0.972000	0.33761	0.994000	0.49952	0.536000	0.34869	1.511000	0.35801	2.306000	0.77630	0.313000	0.20887	CGA	SLC1A6	-	NULL	ENSG00000105143		0.642	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	42	0.00	0	C	NM_005071		15083559	15083559	-1	no_errors	ENST00000221742	ensembl	human	known	69_37n	missense	21	15.38	4	SNP	0.998	T
SLC20A2	6575	genome.wustl.edu	37	8	42294941	42294941	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:42294941G>A	ENST00000342228.3	-	8	1458	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	SLC20A2_ENST00000520262.1_Silent_p.I363I|SLC20A2_ENST00000520179.1_Silent_p.I363I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	363					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCCCCTGTCGATGTGGATTT	0.592																																						dbGAP											0													114.0	114.0	114.0					8																	42294941		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1089C>T	8.37:g.42294941G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Phos_transporter	p.I363	ENST00000342228.3	37	c.1089	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.592	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	72	0.00	0	G			42294941	42294941	-1	no_errors	ENST00000342228	ensembl	human	known	69_37n	silent	35	14.29	6	SNP	0.000	A
SLC20A2	6575	genome.wustl.edu	37	8	42295031	42295031	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:42295031G>A	ENST00000342228.3	-	8	1368	c.999C>T	c.(997-999)ttC>ttT	p.F333F	SLC20A2_ENST00000520262.1_Silent_p.F333F|SLC20A2_ENST00000520179.1_Silent_p.F333F	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	333					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGCCGTCGAAGCCGAAGG	0.547																																						dbGAP											0													72.0	67.0	69.0					8																	42295031		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.999C>T	8.37:g.42295031G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Phos_transporter	p.F333	ENST00000342228.3	37	c.999	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.547	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	74	0.00	0	G			42295031	42295031	-1	no_errors	ENST00000342228	ensembl	human	known	69_37n	silent	35	20.00	9	SNP	0.335	A
SLC22A16	85413	genome.wustl.edu	37	6	110763920	110763920	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:110763920T>G	ENST00000368919.3	-	4	776	c.710A>C	c.(709-711)aAg>aCg	p.K237T	SLC22A16_ENST00000439654.1_Missense_Mutation_p.K237T|SLC22A16_ENST00000456137.2_3'UTR|RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000330550.4_Missense_Mutation_p.K203T	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	237					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TGTCCGAGACTTCATGCCAAT	0.443																																						dbGAP											0													76.0	74.0	75.0					6																	110763920		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.710A>C	6.37:g.110763920T>G	ENSP00000357915:p.Lys237Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K237T	ENST00000368919.3	37	c.710	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758190	0.49468	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	4.74	4.74	0.60224	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.68593	2.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.951	T	0.66559	-0.5893	10	0.40728	T	0.16	.	14.2102	0.65759	0.0:0.0:0.0:1.0	.	237;203	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	T	237;154;203;237;67;194	ENSP00000357915:K237T;ENSP00000395642:K154T;ENSP00000328583:K203T;ENSP00000408799:K237T;ENSP00000409306:K67T;ENSP00000416310:K194T	ENSP00000328583:K203T	K	-	2	0	SLC22A16	110870613	1.000000	0.71417	0.389000	0.26208	0.075000	0.17131	5.604000	0.67626	1.762000	0.52044	0.533000	0.62120	AAG	SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.443	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	453	0.00	0	T	NM_033125		110763920	110763920	-1	no_errors	ENST00000368919	ensembl	human	known	69_37n	missense	245	27.08	91	SNP	0.997	G
SLC22A2	6582	genome.wustl.edu	37	6	160668235	160668235	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:160668235G>T	ENST00000366953.3	-	5	1196	c.938C>A	c.(937-939)tCt>tAt	p.S313Y	SLC22A2_ENST00000366952.1_Missense_Mutation_p.S292Y|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	313					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GGCGGGTAGAGATTTTCCATT	0.483																																						dbGAP											0													129.0	117.0	121.0					6																	160668235		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.938C>A	6.37:g.160668235G>T	ENSP00000355920:p.Ser313Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.S313Y	ENST00000366953.3	37	c.938	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	G	4.243	0.044118	0.08196	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.75821	-0.97;-0.97	5.35	2.26	0.28386	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.814006	0.11212	N	0.587588	T	0.52725	0.1752	L	0.50333	1.59	0.09310	N	1	P;D	0.54601	0.917;0.967	P;P	0.52066	0.637;0.689	T	0.38564	-0.9655	10	0.12766	T	0.61	.	3.241	0.06780	0.0792:0.2384:0.3417:0.3408	.	313;313	O15244;O15244-2	S22A2_HUMAN;.	Y	313;292	ENSP00000355920:S313Y;ENSP00000355919:S292Y	ENSP00000355919:S292Y	S	-	2	0	SLC22A2	160588225	0.038000	0.19896	0.004000	0.12327	0.957000	0.61999	1.638000	0.37165	0.679000	0.31345	0.655000	0.94253	TCT	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.483	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	138	0.72	1	G	NM_003058		160668235	160668235	-1	no_errors	ENST00000366953	ensembl	human	known	69_37n	missense	94	24.80	31	SNP	0.008	T
SLC22A5	6584	genome.wustl.edu	37	5	131721046	131721046	+	Missense_Mutation	SNP	C	C	T	rs546902674		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:131721046C>T	ENST00000245407.3	+	4	900	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	SLC22A5_ENST00000435065.2_Missense_Mutation_p.R251C	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	227			R -> H (in CDSP; dbSNP:rs185551386). {ECO:0000269|PubMed:20574985}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CAAGTCAGTTCGTATAATATT	0.403											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		21037	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													170.0	159.0	163.0					5																	131721046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.679C>T	5.37:g.131721046C>T	ENSP00000245407:p.Arg227Cys	Somatic	1589	WXS	Illumina GAIIx	Phase_IV	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R251C	ENST00000245407.3	37	c.751	CCDS4154.1	5	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156210	0.78114	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	D;D;D	0.82344	-1.6;-1.6;-1.6	5.9	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94634	0.8270	H	0.99117	4.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	D	0.96075	0.9049	10	0.87932	D	0	.	14.1172	0.65161	0.2702:0.7298:0.0:0.0	.	251;227	A2Q0V1;O76082	.;S22A5_HUMAN	C	227;251;150	ENSP00000245407:R227C;ENSP00000402760:R251C;ENSP00000388838:R150C	ENSP00000245407:R227C	R	+	1	0	SLC22A5	131748945	0.970000	0.33590	0.907000	0.35723	0.871000	0.50021	2.162000	0.42367	2.788000	0.95919	0.650000	0.86243	CGT	SLC22A5	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197375		0.403	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	372	0.27	1	C	NM_003060		131721046	131721046	+1	no_errors	ENST00000435065	ensembl	human	known	69_37n	missense	270	27.59	104	SNP	0.985	T
SLC24A1	9187	genome.wustl.edu	37	15	65916671	65916671	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:65916671G>A	ENST00000261892.6	+	2	540	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SLC24A1_ENST00000546330.1_Missense_Mutation_p.E85K|SLC24A1_ENST00000544319.2_Missense_Mutation_p.E85K|SLC24A1_ENST00000537259.1_Missense_Mutation_p.E85K|SLC24A1_ENST00000339868.6_Missense_Mutation_p.E85K|SLC24A1_ENST00000399033.4_Missense_Mutation_p.E85K	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	85					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTAGCTCCGAAATGGGGGG	0.512																																						dbGAP											0													42.0	42.0	42.0					15																	65916671		1962	4172	6134	-	-	-	SO:0001583	missense	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.253G>A	15.37:g.65916671G>A	ENSP00000261892:p.Glu85Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like	p.E85K	ENST00000261892.6	37	c.253	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241765	0.58995	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.78126	-0.89;-1.12;-1.09;2.02;-1.15;-1.09	5.1	1.26	0.21427	.	1.016830	0.07881	N	0.969579	D	0.83207	0.5204	L	0.49126	1.545	0.09310	N	1	B;B;B;D;D	0.89917	0.366;0.251;0.251;1.0;1.0	B;B;B;D;D	0.80764	0.016;0.012;0.012;0.994;0.986	T	0.67608	-0.5627	10	0.87932	D	0	.	7.3188	0.26515	0.3201:0.0:0.6799:0.0	.	85;85;85;85;85	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	K	85	ENSP00000439693:E85K;ENSP00000261892:E85K;ENSP00000341837:E85K;ENSP00000445163:E85K;ENSP00000381991:E85K;ENSP00000439190:E85K	ENSP00000261892:E85K	E	+	1	0	SLC24A1	63703724	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.588000	0.23924	0.116000	0.18110	0.655000	0.94253	GAA	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger	ENSG00000074621		0.512	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	73	0.00	0	G	NM_004727		65916671	65916671	+1	no_errors	ENST00000261892	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	0.001	A
SLC24A4	123041	genome.wustl.edu	37	14	92915514	92915514	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:92915514C>A	ENST00000532405.1	+	10	1060	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SLC24A4_ENST00000393265.2_Missense_Mutation_p.F214L|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F261L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	278					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTAATGATTTCTATGACGGTA	0.502																																					NSCLC(10;315 435 10383 28450 38798)	dbGAP											0													132.0	98.0	109.0					14																	92915514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.834C>A	14.37:g.92915514C>A	ENSP00000431840:p.Phe278Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.F278L	ENST00000532405.1	37	c.834	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875775	0.33162	.	.	ENSG00000140090	ENST00000393265;ENST00000532405;ENST00000298877;ENST00000318079	T;T;T	0.63417	-0.04;0.38;-0.04	5.49	4.6	0.57074	.	0.798396	0.12325	N	0.478958	T	0.36991	0.0987	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.23302	T	0.38	.	5.187	0.15189	0.0:0.7218:0.0:0.2782	.	278	Q8NFF2	NCKX4_HUMAN	L	214;278;261;130	ENSP00000376948:F214L;ENSP00000431840:F278L;ENSP00000298877:F261L	ENSP00000298877:F261L	F	+	3	2	SLC24A4	91985267	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.626000	0.54245	2.583000	0.87209	0.561000	0.74099	TTC	SLC24A4	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000140090		0.502	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	57	0.00	0	C	NM_153646		92915514	92915514	+1	no_errors	ENST00000532405	ensembl	human	known	69_37n	missense	27	22.22	8	SNP	1.000	A
SLC25A14	9016	genome.wustl.edu	37	X	129483415	129483415	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:129483415G>T	ENST00000218197.5	+	4	639				SLC25A14_ENST00000339231.3_Intron|SLC25A14_ENST00000361980.5_Intron|SLC25A14_ENST00000467496.1_Intron|SLC25A14_ENST00000545805.1_Intron|SLC25A14_ENST00000543953.1_Intron	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGAGAATGGAGGAGAGTCACT	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.412+96G>T	X.37:g.129483415G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	RNA	SNP	-	NULL	ENST00000218197.5	37	NULL	CCDS14623.1	X																																																																																			SLC25A14	-	-	ENSG00000102078		0.398	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	155	0.00	0	G	NM_022810, NM_003951		129483415	129483415	+1	no_errors	ENST00000467346	ensembl	human	known	69_37n	rna	100	33.77	51	SNP	0.000	T
SLC25A14	9016	genome.wustl.edu	37	X	129499489	129499489	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:129499489C>T	ENST00000218197.5	+	8	946				SLC25A14_ENST00000339231.3_Intron|SLC25A14_ENST00000361980.5_Intron|SLC25A14_ENST00000467496.1_Intron|SLC25A14_ENST00000543953.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAAGTGGGGTCGATCTACTTA	0.463																																						dbGAP											0													127.0	104.0	112.0					X																	129499489		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.720-26C>T	X.37:g.129499489C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	RNA	SNP	-	NULL	ENST00000218197.5	37	NULL	CCDS14623.1	X																																																																																			SLC25A14	-	-	ENSG00000102078		0.463	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	193	0.00	0	C	NM_022810, NM_003951		129499489	129499489	+1	no_errors	ENST00000465988	ensembl	human	known	69_37n	rna	186	11.32	24	SNP	0.000	T
SLC25A2	83884	genome.wustl.edu	37	5	140683204	140683204	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140683204C>T	ENST00000239451.4	-	1	408	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	77					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACCGAGTTTTCGGCGACGTAG	0.577																																						dbGAP											0													85.0	84.0	84.0					5																	140683204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.229G>A	5.37:g.140683204C>T	ENSP00000239451:p.Glu77Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.E77K	ENST00000239451.4	37	c.229	CCDS4258.1	5	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344352	0.41498	.	.	ENSG00000120329	ENST00000239451	T	0.78003	-1.14	3.93	-1.42	0.08913	Mitochondrial carrier domain (2);	0.116270	0.56097	U	0.000026	T	0.82208	0.4987	M	0.68952	2.095	0.49915	D	0.999832	D	0.76494	0.999	D	0.71656	0.974	T	0.77814	-0.2448	10	0.29301	T	0.29	-10.6561	10.7573	0.46245	0.0:0.3624:0.5502:0.0874	.	77	Q9BXI2	ORNT2_HUMAN	K	77	ENSP00000239451:E77K	ENSP00000239451:E77K	E	-	1	0	SLC25A2	140663388	0.998000	0.40836	0.007000	0.13788	0.002000	0.02628	3.535000	0.53575	-0.294000	0.08973	-0.142000	0.14014	GAA	SLC25A2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000120329		0.577	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A2	HGNC	protein_coding	OTTHUMT00000251799.2	87	0.00	0	C	NM_031947		140683204	140683204	-1	no_errors	ENST00000239451	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	0.568	T
SLC25A31	83447	genome.wustl.edu	37	4	128689927	128689927	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:128689927G>T	ENST00000281154.4	+	5	822	c.654G>T	c.(652-654)aaG>aaT	p.K218N		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	218					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K218K(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAAAGCCAAAGAAAACTCCAT	0.308																																						dbGAP											1	Substitution - coding silent(1)	skin(1)											100.0	91.0	94.0					4																	128689927		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.654G>T	4.37:g.128689927G>T	ENSP00000281154:p.Lys218Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,prints_Aden_trnslctor,pfscan_Mitochondrial_sb/sol_carrier	p.K218N	ENST00000281154.4	37	c.654	CCDS3733.1	4	.	.	.	.	.	.	.	.	.	.	G	9.376	1.071647	0.20147	.	.	ENSG00000151475	ENST00000281154	T	0.78816	-1.21	4.59	3.7	0.42460	Mitochondrial carrier domain (2);	0.121727	0.37136	N	0.002226	T	0.74215	0.3687	M	0.75264	2.295	0.40673	D	0.982235	B	0.18310	0.027	B	0.16722	0.016	T	0.72200	-0.4362	10	0.54805	T	0.06	-17.0035	7.8375	0.29378	0.2149:0.0:0.7851:0.0	.	218	Q9H0C2	ADT4_HUMAN	N	218	ENSP00000281154:K218N	ENSP00000281154:K218N	K	+	3	2	SLC25A31	128909377	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	3.119000	0.50422	1.078000	0.41014	0.467000	0.42956	AAG	SLC25A31	-	superfamily_Mt_carrier_dom	ENSG00000151475		0.308	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A31	HGNC	protein_coding	OTTHUMT00000257094.2	298	0.00	0	G	NM_031291		128689927	128689927	+1	no_errors	ENST00000281154	ensembl	human	known	69_37n	missense	186	12.26	26	SNP	1.000	T
SLC25A43	203427	genome.wustl.edu	37	X	118585980	118585980	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118585980C>T	ENST00000217909.7	+	4	1043	c.699C>T	c.(697-699)agC>agT	p.S233S	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.P176S	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	233					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						AGGCTCAGAGCCCCTACCTCC	0.532																																						dbGAP											0													62.0	63.0	63.0					X																	118585980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.699C>T	X.37:g.118585980C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75854|Q8N9L5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P176S	ENST00000217909.7	37	c.526	CCDS14577.1	X	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428680	0.25726	.	.	ENSG00000077713	ENST00000336249	T	0.80994	-1.44	5.37	-0.191	0.13252	.	.	.	.	.	D	0.85609	0.5736	.	.	.	0.58432	D	0.999999	D	0.63880	0.993	D	0.62955	0.909	T	0.82954	-0.0201	7	.	.	.	.	10.4553	0.44546	0.0:0.4936:0.0:0.5064	.	176	B4E1P8	.	S	176	ENSP00000338628:P176S	.	P	+	1	0	SLC25A43	118470008	0.012000	0.17670	0.241000	0.24154	0.062000	0.15995	-0.163000	0.09997	-0.099000	0.12263	-0.191000	0.12829	CCC	SLC25A43	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000077713		0.532	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A43	HGNC	protein_coding	OTTHUMT00000058028.1	100	0.00	0	C	NM_145305		118585980	118585980	+1	no_errors	ENST00000336249	ensembl	human	known	69_37n	missense	85	22.02	24	SNP	0.073	T
SLC25A48	153328	genome.wustl.edu	37	5	135188504	135188504	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:135188504C>T	ENST00000420621.1	+	4	587	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	SLC25A48_ENST00000433282.2_Missense_Mutation_p.R85W|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Missense_Mutation_p.R139W|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R139W			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	139					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R139W(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						ACAACCGTTTCGGGACGGTAA	0.592																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											24.0	27.0	26.0					5																	135188504		1973	4149	6122	-	-	-	SO:0001583	missense	0				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.415C>T	5.37:g.135188504C>T	ENSP00000407973:p.Arg139Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAV9	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R139W	ENST00000420621.1	37	c.415		5	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271608	0.59649	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.08	5.08	0.68730	.	1.383300	0.04904	N	0.451766	T	0.82217	0.4989	L	0.38838	1.175	0.25951	N	0.982743	D;D	0.69078	0.997;0.997	P;P	0.55785	0.711;0.784	T	0.71879	-0.4459	10	0.72032	D	0.01	-16.6873	14.3307	0.66553	0.1578:0.8422:0.0:0.0	.	139;139	Q6ZT89-3;Q6ZT89-2	.;.	W	139;139;85;139	ENSP00000274513:R139W;ENSP00000407973:R139W;ENSP00000399834:R85W;ENSP00000413049:R139W	ENSP00000274513:R139W	R	+	1	2	SLC25A48	135216403	0.497000	0.26067	0.961000	0.40146	0.466000	0.32739	1.155000	0.31700	2.359000	0.80004	0.462000	0.41574	CGG	SLC25A48	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000145832		0.592	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	HGNC	protein_coding		54	0.00	0	C	NM_145282		135188504	135188504	+1	no_errors	ENST00000420621	ensembl	human	known	69_37n	missense	35	33.33	18	SNP	0.936	T
SLC25A52	147407	genome.wustl.edu	37	18	29340087	29340087	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:29340087G>T	ENST00000579441.2	-	1	537	c.538C>A	c.(538-540)Ctt>Att	p.L180I	SLC25A52_ENST00000269205.5_Missense_Mutation_p.L190I			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	180					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TTCCGGAAAAGAATGGGCACC	0.453																																						dbGAP											0													93.0	90.0	91.0					18																	29340087		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.538C>A	18.37:g.29340087G>T	ENSP00000462754:p.Leu180Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L190I	ENST00000579441.2	37	c.568		18	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857205	0.71834	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.80214	-1.35	1.22	1.22	0.21188	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000002	D	0.84633	0.5515	M	0.81682	2.555	0.48901	D	0.99972	P	0.44659	0.84	P	0.55303	0.773	T	0.82438	-0.0457	10	0.39692	T	0.17	.	8.3686	0.32402	0.0:0.0:1.0:0.0	.	180	Q3SY17	MCAR2_HUMAN	I	190;180	ENSP00000372612:L190I	ENSP00000372612:L190I	L	-	1	0	MCART2	27594085	1.000000	0.71417	0.938000	0.37757	0.991000	0.79684	3.394000	0.52551	0.992000	0.38840	0.505000	0.49811	CTT	SLC25A52	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000141437		0.453	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	SLC25A52	HGNC	protein_coding		302	0.00	0	G	XM_084000		29340087	29340087	-1	no_errors	ENST00000269205	ensembl	human	known	69_37n	missense	155	13.41	24	SNP	1.000	T
SLC25A53	401612	genome.wustl.edu	37	X	103349538	103349539	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:103349538_103349539insT	ENST00000357421.4	-	2	582_583	c.402_403insA	c.(400-405)ccctttfs	p.F135fs		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	135					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											ACCCTTTCAAAGGGGCTGAGTG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.402_403insA	X.37:g.103349538_103349539insT	ENSP00000361681:p.Phe135fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT9	Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.F134fs	ENST00000357421.4	37	c.403_402	CCDS35363.1	X																																																																																			SLC25A53	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000176274		0.589	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A53	HGNC	protein_coding	OTTHUMT00000057761.1	200	0.00	0	-	NM_001012755		103349538	103349539	-1	no_errors	ENST00000357421	ensembl	human	known	69_37n	frame_shift_ins	88	17.76	19	INS	1.000:0.991	T
SLC26A2	1836	genome.wustl.edu	37	5	149360495	149360495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:149360495G>T	ENST00000286298.4	+	3	1607	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	447					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATTGGTTAAAGAATCAACAGG	0.418																																						dbGAP											0													102.0	100.0	100.0					5																	149360495		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1339G>T	5.37:g.149360495G>T	ENSP00000286298:p.Glu447*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U3|B2R6J1|Q6N051	Nonsense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.E447*	ENST00000286298.4	37	c.1339	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.293349	0.97449	.	.	ENSG00000155850	ENST00000286298	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	13.0994	0.59212	0.0729:0.0:0.9271:0.0	.	.	.	.	X	447	.	ENSP00000286298:E447X	E	+	1	0	SLC26A2	149340688	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.807000	0.99171	2.687000	0.91594	0.655000	0.94253	GAA	SLC26A2	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000155850		0.418	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	254	0.00	0	G	NM_000112		149360495	149360495	+1	no_errors	ENST00000286298	ensembl	human	known	69_37n	nonsense	199	28.06	78	SNP	1.000	T
SLC26A2	1836	genome.wustl.edu	37	5	149361126	149361126	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:149361126A>C	ENST00000286298.4	+	3	2238	c.1970A>C	c.(1969-1971)cAa>cCa	p.Q657P		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	657	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTGCAATTCAATTTTTAGAT	0.448																																						dbGAP											0													85.0	86.0	86.0					5																	149361126		2203	4300	6503	-	-	-	SO:0001583	missense	0			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1970A>C	5.37:g.149361126A>C	ENSP00000286298:p.Gln657Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q657P	ENST00000286298.4	37	c.1970	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	A	2.735	-0.263527	0.05754	.	.	ENSG00000155850	ENST00000286298	T	0.59224	0.28	5.89	5.89	0.94794	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.056817	0.64402	D	0.000001	T	0.45895	0.1365	L	0.31526	0.94	0.28844	N	0.896428	B	0.11235	0.004	B	0.15052	0.012	T	0.41610	-0.9499	10	0.40728	T	0.16	.	12.1852	0.54234	0.8577:0.1423:0.0:0.0	.	657	P50443	S26A2_HUMAN	P	657	ENSP00000286298:Q657P	ENSP00000286298:Q657P	Q	+	2	0	SLC26A2	149341319	1.000000	0.71417	0.986000	0.45419	0.385000	0.30292	4.468000	0.60162	2.255000	0.74692	0.533000	0.62120	CAA	SLC26A2	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000155850		0.448	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	122	0.00	0	A	NM_000112		149361126	149361126	+1	no_errors	ENST00000286298	ensembl	human	known	69_37n	missense	94	17.54	20	SNP	0.727	C
SLC26A5	375611	genome.wustl.edu	37	7	103051989	103051989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:103051989G>A	ENST00000306312.3	-	6	709	c.448C>T	c.(448-450)Cga>Tga	p.R150*	SLC26A5_ENST00000393727.1_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000393729.1_Nonsense_Mutation_p.R113*|SLC26A5_ENST00000393735.2_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000393723.1_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000393730.1_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000356767.4_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000339444.6_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000432958.2_Nonsense_Mutation_p.R150*|SLC26A5_ENST00000354356.4_5'UTR	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	150					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTACTAATCGAACAGCTACA	0.443																																						dbGAP											0													191.0	157.0	168.0					7																	103051989		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.448C>T	7.37:g.103051989G>A	ENSP00000304783:p.Arg150*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Nonsense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.R150*	ENST00000306312.3	37	c.448	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.434647	0.98282	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	.	.	.	5.49	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0465	0.58928	0.0:0.0:0.563:0.437	.	.	.	.	X	150;150;150;150;150;150;113;150;150	.	ENSP00000304783:R150X	R	-	1	2	SLC26A5	102839225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.226000	0.58606	1.442000	0.47568	0.655000	0.94253	CGA	SLC26A5	-	tigrfam_SulP_transpt	ENSG00000170615		0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	408	0.24	1	G	NM_198999		103051989	103051989	-1	no_errors	ENST00000306312	ensembl	human	known	69_37n	nonsense	237	28.74	96	SNP	1.000	A
SLC26A4	5172	genome.wustl.edu	37	7	107336426	107336426	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107336426C>A	ENST00000265715.3	+	13	1710	c.1486C>A	c.(1486-1488)Ctc>Atc	p.L496I	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.L65I|SLC26A4_ENST00000544569.1_Missense_Mutation_p.L83I|SLC26A4_ENST00000541474.1_Missense_Mutation_p.L57I	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	496					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGGGCTGGATCTCGGTTTACT	0.383									Pendred syndrome																													dbGAP											0													300.0	283.0	289.0					7																	107336426		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1486C>A	7.37:g.107336426C>A	ENSP00000265715:p.Leu496Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L496I	ENST00000265715.3	37	c.1486	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920493	0.52653	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94376	-3.09;-3.34;-3.41;-3.41	5.88	5.0	0.66597	.	0.237792	0.36002	N	0.002858	D	0.83700	0.5311	L	0.31120	0.905	0.31526	N	0.661721	B;B;P	0.41041	0.251;0.163;0.736	B;B;B	0.35312	0.176;0.053;0.2	T	0.81204	-0.1039	10	0.02654	T	1	.	7.1661	0.25691	0.0:0.7185:0.0:0.2815	.	57;83;496	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	I	496;57;83;65	ENSP00000265715:L496I;ENSP00000439743:L57I;ENSP00000437427:L83I;ENSP00000441209:L65I	ENSP00000265715:L496I	L	+	1	0	SLC26A4	107123662	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	1.811000	0.38942	1.491000	0.48482	0.655000	0.94253	CTC	SLC26A4	-	tigrfam_SulP_transpt	ENSG00000091137		0.383	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	573	0.00	0	C	NM_000441		107336426	107336426	+1	no_errors	ENST00000265715	ensembl	human	known	69_37n	missense	386	31.19	175	SNP	0.994	A
SLC26A3	1811	genome.wustl.edu	37	7	107415298	107415298	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:107415298C>T	ENST00000340010.5	-	16	1881	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398																																						dbGAP											0													141.0	125.0	131.0					7																	107415298		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1697G>A	7.37:g.107415298C>T	ENSP00000345873:p.Arg566Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.R566Q	ENST00000340010.5	37	c.1697	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.830181	0.91036	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.89270	-2.49;-2.49	6.11	6.11	0.99139	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.147172	0.64402	D	0.000014	D	0.94922	0.8358	M	0.83603	2.65	0.41169	D	0.98615	P;D	0.76494	0.94;0.999	B;D	0.73708	0.296;0.981	D	0.92916	0.6351	10	0.33141	T	0.24	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	531;566	G5E9U3;P40879	.;S26A3_HUMAN	Q	531;566	ENSP00000415817:R531Q;ENSP00000345873:R566Q	ENSP00000345873:R566Q	R	-	2	0	SLC26A3	107202534	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.089000	0.57685	2.906000	0.99361	0.655000	0.94253	CGA	SLC26A3	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000091138		0.398	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	531	0.00	0	C	NM_000111		107415298	107415298	-1	no_errors	ENST00000340010	ensembl	human	known	69_37n	missense	369	14.78	64	SNP	1.000	T
SLC26A9	115019	genome.wustl.edu	37	1	205892739	205892739	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:205892739C>T	ENST00000367135.3	-	14	1612	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R500Q|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R500Q	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	500					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATAGCCATTTCGACTGGATGA	0.493																																						dbGAP											0													96.0	88.0	91.0					1																	205892739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1499G>A	1.37:g.205892739C>T	ENSP00000356103:p.Arg500Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.R500Q	ENST00000367135.3	37	c.1499	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956963	0.92726	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92647	-3.08;-3.06;-3.08	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.94503	0.8230	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	D	0.94939	0.8089	10	0.87932	D	0	.	18.227	0.89921	0.0:1.0:0.0:0.0	.	500;500	Q7LBE3;B1AVM8	S26A9_HUMAN;.	Q	500	ENSP00000341682:R500Q;ENSP00000356103:R500Q;ENSP00000356102:R500Q	ENSP00000341682:R500Q	R	-	2	0	SLC26A9	204159362	0.991000	0.36638	1.000000	0.80357	0.953000	0.61014	2.368000	0.44222	2.625000	0.88918	0.655000	0.94253	CGA	SLC26A9	-	tigrfam_SulP_transpt	ENSG00000174502		0.493	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	251	0.00	0	C	NM_052934		205892739	205892739	-1	no_errors	ENST00000340781	ensembl	human	known	69_37n	missense	194	12.22	27	SNP	1.000	T
SLC26A9	115019	genome.wustl.edu	37	1	205895723	205895723	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:205895723C>T	ENST00000367135.3	-	12	1442	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	SLC26A9_ENST00000340781.4_Silent_p.K443K|SLC26A9_ENST00000367134.2_Silent_p.K443K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	443					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGAGGGAGTTCTTGAGATTGA	0.562																																						dbGAP											0													158.0	142.0	148.0					1																	205895723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1329G>A	1.37:g.205895723C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K443	ENST00000367135.3	37	c.1329	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000174502		0.562	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	314	0.00	0	C	NM_052934		205895723	205895723	-1	no_errors	ENST00000340781	ensembl	human	known	69_37n	silent	208	20.00	52	SNP	1.000	T
SLC28A1	9154	genome.wustl.edu	37	15	85433736	85433736	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:85433736G>A	ENST00000286749.3	+	4	338	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	SLC28A1_ENST00000394573.1_Missense_Mutation_p.R83Q|SLC28A1_ENST00000338602.2_Missense_Mutation_p.R83Q|SLC28A1_ENST00000537703.1_Missense_Mutation_p.R5Q|SLC28A1_ENST00000537624.1_Missense_Mutation_p.R83Q|SLC28A1_ENST00000538177.1_Missense_Mutation_p.R83Q|SLC28A1_ENST00000537216.1_Missense_Mutation_p.R83Q			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	83					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CAGCTGTTTCGATGGATCGGC	0.607																																						dbGAP											0													60.0	48.0	52.0					15																	85433736		2203	4299	6502	-	-	-	SO:0001583	missense	0			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.248G>A	15.37:g.85433736G>A	ENSP00000286749:p.Arg83Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.R83Q	ENST00000286749.3	37	c.248	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735785	0.30774	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.29	1.25	0.21368	.	0.548689	0.18135	N	0.150601	T	0.62768	0.2455	L	0.39147	1.195	0.09310	N	1	B;B;P;B;B;P	0.44006	0.063;0.108;0.507;0.05;0.036;0.824	B;B;B;B;B;B	0.31101	0.024;0.036;0.103;0.008;0.024;0.124	T	0.52697	-0.8541	10	0.25106	T	0.35	-5.7617	6.9679	0.24632	0.3062:0.0:0.6938:0.0	.	83;83;83;5;83;83	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337;O00337-2	.;.;.;.;S28A1_HUMAN;.	Q	83;83;83;83;83;83;5	ENSP00000341629:R83Q;ENSP00000440546:R83Q;ENSP00000443752:R83Q;ENSP00000444700:R83Q;ENSP00000286749:R83Q;ENSP00000378074:R83Q;ENSP00000443764:R5Q	ENSP00000286749:R83Q	R	+	2	0	SLC28A1	83234740	0.000000	0.05858	0.012000	0.15200	0.152000	0.21847	0.240000	0.18042	0.089000	0.17243	0.563000	0.77884	CGA	SLC28A1	-	NULL	ENSG00000156222		0.607	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	99	0.00	0	G			85433736	85433736	+1	no_errors	ENST00000286749	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	0.041	A
SLC28A3	64078	genome.wustl.edu	37	9	86920202	86920202	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:86920202G>T	ENST00000376238.4	-	4	350	c.301C>A	c.(301-303)Ctt>Att	p.L101I	SLC28A3_ENST00000537648.1_Missense_Mutation_p.L32I|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	101					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	ATGTGCCGAAGAGTTGTTTTG	0.388																																					Ovarian(106;425 1539 34835 42413 43572)	dbGAP											0													155.0	142.0	146.0					9																	86920202		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.301C>A	9.37:g.86920202G>T	ENSP00000365413:p.Leu101Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.L101I	ENST00000376238.4	37	c.301	CCDS6670.1	9	.	.	.	.	.	.	.	.	.	.	G	0.614	-0.823877	0.02755	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.81415	-1.49;-1.49	5.49	-5.91	0.02269	.	0.758811	0.12370	N	0.474846	T	0.50701	0.1631	N	0.17474	0.49	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.51505	-0.8697	10	0.07175	T	0.84	-2.8162	0.5201	0.00610	0.2656:0.1727:0.1582:0.4034	.	32;101	B4E2S8;Q9HAS3	.;S28A3_HUMAN	I	101;32	ENSP00000365413:L101I;ENSP00000446438:L32I	ENSP00000365413:L101I	L	-	1	0	SLC28A3	86110022	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	-0.367000	0.07553	-0.719000	0.04942	-0.175000	0.13238	CTT	SLC28A3	-	NULL	ENSG00000197506		0.388	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	311	0.00	0	G	NM_022127		86920202	86920202	-1	no_errors	ENST00000376238	ensembl	human	known	69_37n	missense	173	12.63	25	SNP	0.000	T
SLC2A12	154091	genome.wustl.edu	37	6	134349542	134349542	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:134349542G>A	ENST00000275230.5	-	2	1576	c.1421C>T	c.(1420-1422)gCt>gTt	p.A474V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	474					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AATTGAAAAAGCAGCAACATA	0.418																																					Melanoma(122;1663 1672 14489 35294 41228)	dbGAP											0													92.0	86.0	88.0					6																	134349542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1421C>T	6.37:g.134349542G>A	ENSP00000275230:p.Ala474Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.A474V	ENST00000275230.5	37	c.1421	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766310	0.69878	.	.	ENSG00000146411	ENST00000275230	D	0.81499	-1.5	5.27	4.38	0.52667	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.114677	0.64402	D	0.000017	T	0.77685	0.4167	M	0.63843	1.955	0.54753	D	0.99998	P	0.42649	0.786	P	0.52031	0.688	T	0.75986	-0.3124	10	0.17369	T	0.5	-8.5568	15.7278	0.77777	0.0:0.1371:0.8629:0.0	.	474	Q8TD20	GTR12_HUMAN	V	474	ENSP00000275230:A474V	ENSP00000275230:A474V	A	-	2	0	SLC2A12	134391235	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.932000	0.70121	1.185000	0.42971	0.467000	0.42956	GCT	SLC2A12	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	ENSG00000146411		0.418	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	166	0.00	0	G			134349542	134349542	-1	no_errors	ENST00000275230	ensembl	human	known	69_37n	missense	109	19.85	27	SNP	1.000	A
SLC2A12	154091	genome.wustl.edu	37	6	134350254	134350254	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:134350254G>T	ENST00000275230.5	-	2	864	c.709C>A	c.(709-711)Ctt>Att	p.L237I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	237					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.L237I(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACCTTCCAAGAACCTTGCTA	0.443																																					Melanoma(122;1663 1672 14489 35294 41228)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)											72.0	73.0	72.0					6																	134350254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.709C>A	6.37:g.134350254G>T	ENSP00000275230:p.Leu237Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.L237I	ENST00000275230.5	37	c.709	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975594	0.74360	.	.	ENSG00000146411	ENST00000275230	T	0.79749	-1.3	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	M	0.71581	2.175	0.80722	D	1	D	0.65815	0.995	D	0.69824	0.966	D	0.88107	0.2823	10	0.62326	D	0.03	-14.776	19.174	0.93594	0.0:0.0:1.0:0.0	.	237	Q8TD20	GTR12_HUMAN	I	237	ENSP00000275230:L237I	ENSP00000275230:L237I	L	-	1	0	SLC2A12	134391947	1.000000	0.71417	0.990000	0.47175	0.724000	0.41520	4.451000	0.60047	2.542000	0.85734	0.467000	0.42956	CTT	SLC2A12	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146411		0.443	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	104	0.00	0	G			134350254	134350254	-1	no_errors	ENST00000275230	ensembl	human	known	69_37n	missense	95	13.64	15	SNP	1.000	T
SLC30A10	55532	genome.wustl.edu	37	1	220091781	220091781	+	Silent	SNP	C	C	T	rs530548090		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:220091781C>T	ENST00000366926.3	-	3	935	c.774G>A	c.(772-774)acG>acA	p.T258T	SLC30A10_ENST00000536446.1_Silent_p.T13T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	258					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.T258T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ATATGATGGCCGTGATGACCA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18210	0.0		0.0	False		,,,				2504	0.001				Colon(76;360 1614 43677 51136)	dbGAP											1	Substitution - coding silent(1)	endometrium(1)											164.0	145.0	151.0					1																	220091781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.774G>A	1.37:g.220091781C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL9|Q9NPW0	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.T258	ENST00000366926.3	37	c.774	CCDS31026.1	1																																																																																			SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.507	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	106	0.00	0	C	NM_018713		220091781	220091781	-1	no_errors	ENST00000366926	ensembl	human	known	69_37n	silent	62	44.14	49	SNP	0.009	T
SLC30A9	10463	genome.wustl.edu	37	4	42020145	42020145	+	Nonsense_Mutation	SNP	G	G	T	rs552013390		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:42020145G>T	ENST00000264451.7	+	3	472	c.292G>T	c.(292-294)Gaa>Taa	p.E98*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	98					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E98*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATAGGCACAGAACTCAAAGC	0.259																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											39.0	40.0	40.0					4																	42020145		2202	4292	6494	-	-	-	SO:0001587	stop_gained	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.292G>T	4.37:g.42020145G>T	ENSP00000264451:p.Glu98*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Nonsense_Mutation	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.E98*	ENST00000264451.7	37	c.292	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600425	0.66332	.	.	ENSG00000014824	ENST00000264451	.	.	.	5.35	3.61	0.41365	.	0.456397	0.25264	N	0.031927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.9664	7.4064	0.26993	0.0904:0.1691:0.7405:0.0	.	.	.	.	X	98	.	ENSP00000264451:E98X	E	+	1	0	SLC30A9	41714902	0.970000	0.33590	0.954000	0.39281	0.537000	0.34900	1.694000	0.37752	0.640000	0.30582	-0.242000	0.12053	GAA	SLC30A9	-	NULL	ENSG00000014824		0.259	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3	255	0.39	1	G			42020145	42020145	+1	no_errors	ENST00000264451	ensembl	human	known	69_37n	nonsense	163	12.37	23	SNP	0.749	T
SLC30A9	10463	genome.wustl.edu	37	4	42037311	42037311	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:42037311A>C	ENST00000264451.7	+	7	810	c.630A>C	c.(628-630)aaA>aaC	p.K210N		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	210					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAACCAAAAAATATTAAGAG	0.303																																						dbGAP											0													55.0	61.0	59.0					4																	42037311		2196	4283	6479	-	-	-	SO:0001583	missense	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.630A>C	4.37:g.42037311A>C	ENSP00000264451:p.Lys210Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.K210N	ENST00000264451.7	37	c.630	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	A	13.20	2.166468	0.38217	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.55588	0.51	4.48	2.05	0.26809	.	0.244696	0.47093	D	0.000251	T	0.33527	0.0866	L	0.27053	0.805	0.34249	D	0.678527	B	0.16802	0.019	B	0.20184	0.028	T	0.33624	-0.9861	10	0.72032	D	0.01	-11.1742	3.2709	0.06882	0.6088:0.2335:0.1577:0.0	.	210	Q6PML9	ZNT9_HUMAN	N	210;38	ENSP00000264451:K210N	ENSP00000264451:K210N	K	+	3	2	SLC30A9	41732068	0.997000	0.39634	0.999000	0.59377	0.973000	0.67179	0.797000	0.26999	0.823000	0.34589	0.397000	0.26171	AAA	SLC30A9	-	NULL	ENSG00000014824		0.303	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3	107	0.00	0	A			42037311	42037311	+1	no_errors	ENST00000264451	ensembl	human	known	69_37n	missense	83	17.82	18	SNP	0.997	C
SLC30A9	10463	genome.wustl.edu	37	4	42080244	42080244	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:42080244A>G	ENST00000264451.7	+	17	1744	c.1564A>G	c.(1564-1566)Aaa>Gaa	p.K522E		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	522					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCAAGAAGTGAAAACTCCTGA	0.294																																						dbGAP											0													47.0	52.0	50.0					4																	42080244		2195	4296	6491	-	-	-	SO:0001583	missense	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1564A>G	4.37:g.42080244A>G	ENSP00000264451:p.Lys522Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.K522E	ENST00000264451.7	37	c.1564	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396621	0.62177	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.24538	1.85	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	N	0.13168	0.305	0.80722	D	1	B	0.24317	0.101	B	0.37091	0.241	T	0.12528	-1.0544	10	0.31617	T	0.26	-25.6246	15.9971	0.80260	1.0:0.0:0.0:0.0	.	522	Q6PML9	ZNT9_HUMAN	E	522;350	ENSP00000264451:K522E	ENSP00000264451:K522E	K	+	1	0	SLC30A9	41775001	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.688000	0.91260	2.175000	0.68902	0.528000	0.53228	AAA	SLC30A9	-	NULL	ENSG00000014824		0.294	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3	102	0.00	0	A			42080244	42080244	+1	no_errors	ENST00000264451	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	1.000	G
SLC32A1	140679	genome.wustl.edu	37	20	37356724	37356724	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:37356724G>T	ENST00000217420.1	+	2	1283	c.1020G>T	c.(1018-1020)atG>atT	p.M340I		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	340					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACTGCATGATGAACTGGACGC	0.587																																						dbGAP											0													74.0	64.0	67.0					20																	37356724		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1020G>T	20.37:g.37356724G>T	ENSP00000217420:p.Met340Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.M340I	ENST00000217420.1	37	c.1020	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914883	0.52546	.	.	ENSG00000101438	ENST00000217420	T	0.01963	4.53	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.04588	0.0125	L	0.54323	1.7	0.80722	D	1	B	0.25272	0.122	B	0.33121	0.158	T	0.35276	-0.9795	10	0.72032	D	0.01	-33.1766	14.7809	0.69766	0.0:0.0:1.0:0.0	.	340	Q9H598	VIAAT_HUMAN	I	340	ENSP00000217420:M340I	ENSP00000217420:M340I	M	+	3	0	SLC32A1	36790138	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.788000	0.99064	2.174000	0.68829	0.313000	0.20887	ATG	SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.587	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	47	0.00	0	G	NM_080552		37356724	37356724	+1	no_errors	ENST00000217420	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	T
SLC34A1	6569	genome.wustl.edu	37	5	176816646	176816646	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176816646C>A	ENST00000324417.5	+	8	1027				SLC34A1_ENST00000512593.1_Missense_Mutation_p.L315M	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1						arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAGCAAAATCTGGAAGGGAG	0.488																																						dbGAP											0													83.0	71.0	75.0					5																	176816646		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.936+1273C>A	5.37:g.176816646C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPE3	Missense_Mutation	SNP	pfam_Na/Pi_transpt	p.L315M	ENST00000324417.5	37	c.943	CCDS4418.1	5	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759844	0.31137	.	.	ENSG00000131183	ENST00000512593	T	0.46819	0.86	3.31	2.43	0.29744	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.38824	-0.9643	6	0.59425	D	0.04	.	8.159	0.31187	0.0:0.6593:0.3407:0.0	.	.	.	.	M	315	ENSP00000423022:L315M	ENSP00000423022:L315M	L	+	1	2	SLC34A1	176749252	0.000000	0.05858	0.008000	0.14137	0.523000	0.34469	-0.367000	0.07553	0.953000	0.37825	0.462000	0.41574	CTG	SLC34A1	-	NULL	ENSG00000131183		0.488	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A1	HGNC	protein_coding	OTTHUMT00000253431.1	52	0.00	0	C	NM_003052		176816646	176816646	+1	no_errors	ENST00000512593	ensembl	human	putative	69_37n	missense	36	21.74	10	SNP	0.009	A
SLC35B4	84912	genome.wustl.edu	37	7	133986550	133986550	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:133986550C>A	ENST00000378509.4	-	6	749	c.450G>T	c.(448-450)gaG>gaT	p.E150D		NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4	150					carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ATCCATCATTCTCACTCAAGC	0.403																																						dbGAP											0													132.0	138.0	136.0					7																	133986550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.450G>T	7.37:g.133986550C>A	ENSP00000367770:p.Glu150Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Missense_Mutation	SNP	pfam_UAA,pfam_DUF250	p.E150D	ENST00000378509.4	37	c.450	CCDS34756.1	7	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802666	0.31869	.	.	ENSG00000205060	ENST00000378509	T	0.31247	1.5	6.07	-0.178	0.13303	.	0.093732	0.64402	N	0.000001	T	0.14570	0.0352	N	0.20986	0.625	0.34554	D	0.711645	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.002;0.003;0.009	T	0.27773	-1.0064	10	0.11794	T	0.64	-17.6765	6.1137	0.20114	0.0:0.3157:0.146:0.5384	.	150;150;150	Q969S0-3;Q969S0-2;Q969S0	.;.;S35B4_HUMAN	D	150	ENSP00000367770:E150D	ENSP00000367770:E150D	E	-	3	2	SLC35B4	133637090	0.994000	0.37717	0.919000	0.36401	0.994000	0.84299	0.193000	0.17116	-0.088000	0.12506	0.585000	0.79938	GAG	SLC35B4	-	pfam_UAA	ENSG00000205060		0.403	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B4	HGNC	protein_coding	OTTHUMT00000339444.2	113	0.00	0	C	NM_032826		133986550	133986550	-1	no_errors	ENST00000378509	ensembl	human	known	69_37n	missense	65	35.64	36	SNP	0.995	A
SLC35F3	148641	genome.wustl.edu	37	1	234367368	234367368	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:234367368C>T	ENST00000366617.3	+	2	510	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SLC35F3_ENST00000366618.3_Silent_p.F163F			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	94					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.F163F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAGGAAGTTCGACGCGCCCT	0.587																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											173.0	149.0	157.0					1																	234367368		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.282C>T	1.37:g.234367368C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDD6|Q8N9C9	Silent	SNP	pfam_DMT,pfam_DUF250,pfam_DUF914_euk	p.F163	ENST00000366617.3	37	c.489		1																																																																																			SLC35F3	-	NULL	ENSG00000183780		0.587	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	128	0.00	0	C	NM_173508		234367368	234367368	+1	no_errors	ENST00000366618	ensembl	human	known	69_37n	silent	50	12.28	7	SNP	0.997	T
SLC36A1	206358	genome.wustl.edu	37	5	150856222	150856222	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:150856222C>T	ENST00000243389.3	+	9	1117	c.894C>T	c.(892-894)atC>atT	p.I298I	SLC36A1_ENST00000520701.1_Silent_p.I298I|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000521925.1_Silent_p.I298I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	298					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GCATGGTCATCGTCACCATCC	0.517																																					Melanoma(151;1534 1860 12947 32979 37872)	dbGAP											0													164.0	134.0	145.0					5																	150856222		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.894C>T	5.37:g.150856222C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R25C	ENST00000243389.3	37	c.73	CCDS4316.1	5																																																																																			SLC36A1	-	pfam_AA_transpt_TM	ENSG00000123643		0.517	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A1	HGNC	protein_coding	OTTHUMT00000252433.1	440	0.00	0	C	NM_078483		150856222	150856222	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000522185	ensembl	human	known	69_37n	missense	266	15.24	48	SNP	0.001	T
SLC36A4	120103	genome.wustl.edu	37	11	92899173	92899173	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:92899173C>A	ENST00000326402.4	-	8	908	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	SLC36A4_ENST00000529184.1_Missense_Mutation_p.D125Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	260					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGTGGGGATCTGGCATGTTC	0.328																																						dbGAP											0													57.0	58.0	58.0					11																	92899173		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.778G>T	11.37:g.92899173C>A	ENSP00000317382:p.Asp260Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.D260Y	ENST00000326402.4	37	c.778	CCDS8291.1	11	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561966	0.27915	.	.	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02177	4.41;4.41;4.41	6.03	4.12	0.48240	.	0.055640	0.64402	D	0.000002	T	0.04679	0.0127	M	0.65498	2.005	0.45962	D	0.998781	B	0.17667	0.023	B	0.31614	0.133	T	0.22312	-1.0220	10	0.45353	T	0.12	-8.6327	10.6362	0.45567	0.0:0.7883:0.0:0.2117	.	260	Q6YBV0	S36A4_HUMAN	Y	260;125;154	ENSP00000317382:D260Y;ENSP00000436570:D125Y;ENSP00000432061:D154Y	ENSP00000317382:D260Y	D	-	1	0	SLC36A4	92538821	0.978000	0.34361	0.998000	0.56505	0.878000	0.50629	0.941000	0.29005	0.832000	0.34804	0.655000	0.94253	GAT	SLC36A4	-	pfam_AA_transpt_TM	ENSG00000180773		0.328	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A4	HGNC	protein_coding	OTTHUMT00000394329.2	322	0.00	0	C			92899173	92899173	-1	no_errors	ENST00000326402	ensembl	human	known	69_37n	missense	163	31.22	74	SNP	1.000	A
SLC37A4	2542	genome.wustl.edu	37	11	118898961	118898961	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118898961G>A	ENST00000545985.1	-	4	1080	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Silent_p.F108F|SLC37A4_ENST00000538950.1_Silent_p.F35F|SLC37A4_ENST00000357590.5_Silent_p.F108F	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	108					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCCATTAAGGAACCAGAGGG	0.577																																						dbGAP											0													30.0	34.0	33.0					11																	118898961		1966	4153	6119	-	-	-	SO:0001819	synonymous_variant	0			Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.324C>T	11.37:g.118898961G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O96016|Q5J7V4|Q9UI19|Q9UNS4	RNA	SNP	-	NULL	ENST00000545985.1	37	NULL		11																																																																																			SLC37A4	-	-	ENSG00000137700		0.577	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	SLC37A4	HGNC	protein_coding		110	0.00	0	G	NM_001467		118898961	118898961	-1	no_errors	ENST00000330775	ensembl	human	known	69_37n	rna	71	23.40	22	SNP	1.000	A
SLC38A11	151258	genome.wustl.edu	37	2	165802118	165802118	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:165802118A>C	ENST00000409149.3	-	3	472	c.181T>G	c.(181-183)Ttg>Gtg	p.L61V	SLC38A11_ENST00000303735.4_Missense_Mutation_p.L61V|SLC38A11_ENST00000409662.1_Missense_Mutation_p.L61V|SLC38A11_ENST00000409058.1_Missense_Mutation_p.L92V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	61					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						AAAGGATACAAAAACTGAAGA	0.358																																						dbGAP											0													82.0	87.0	85.0					2																	165802118		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.181T>G	2.37:g.165802118A>C	ENSP00000386272:p.Leu61Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF99|Q8N887	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L61V	ENST00000409149.3	37	c.181	CCDS56142.1	2	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347994	0.41599	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02121	4.44;4.44;4.44;4.44	5.98	-2.15	0.07102	.	0.126902	0.49916	N	0.000130	T	0.01765	0.0056	L	0.48877	1.53	0.37007	D	0.895553	B;B	0.18013	0.025;0.011	B;B	0.28709	0.093;0.056	T	0.49762	-0.8905	10	0.15499	T	0.54	-2.7307	0.6828	0.00878	0.4396:0.1178:0.2035:0.2391	.	61;61	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	V	61;61;92;61	ENSP00000306178:L61V;ENSP00000386272:L61V;ENSP00000387345:L92V;ENSP00000386774:L61V	ENSP00000306178:L61V	L	-	1	2	SLC38A11	165510364	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	1.402000	0.34600	-0.350000	0.08262	-0.323000	0.08544	TTG	SLC38A11	-	pfam_AA_transpt_TM	ENSG00000169507		0.358	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	HGNC	protein_coding	OTTHUMT00000333390.1	346	0.00	0	A	NM_173512		165802118	165802118	-1	no_errors	ENST00000409149	ensembl	human	known	69_37n	missense	184	25.81	64	SNP	0.997	C
SLC38A2	54407	genome.wustl.edu	37	12	46760709	46760709	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:46760709G>T	ENST00000256689.5	-	7	945	c.501C>A	c.(499-501)ttC>ttA	p.F167L	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	167					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATTTCACTATGAAGAGGTAGC	0.393																																					Ovarian(9;448 492 8335 28722 40361)	dbGAP											0													86.0	82.0	83.0					12																	46760709		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.501C>A	12.37:g.46760709G>T	ENSP00000256689:p.Phe167Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.F167L	ENST00000256689.5	37	c.501	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125722	0.77436	.	.	ENSG00000134294	ENST00000256689	T	0.01887	4.58	6.17	6.17	0.99709	.	0.054229	0.85682	D	0.000000	T	0.06234	0.0161	L	0.60845	1.875	0.80722	D	1	P;P	0.44659	0.84;0.515	P;B	0.49561	0.615;0.248	T	0.26224	-1.0109	10	0.39692	T	0.17	-21.0686	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	67;167	Q96QD8-2;Q96QD8	.;S38A2_HUMAN	L	167	ENSP00000256689:F167L	ENSP00000256689:F167L	F	-	3	2	SLC38A2	45046976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.531000	0.53546	2.941000	0.99782	0.655000	0.94253	TTC	SLC38A2	-	pfam_AA_transpt_TM	ENSG00000134294		0.393	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	88	0.00	0	G			46760709	46760709	-1	no_errors	ENST00000256689	ensembl	human	known	69_37n	missense	52	25.71	18	SNP	1.000	T
SLC38A4	55089	genome.wustl.edu	37	12	47173644	47173644	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:47173644C>A	ENST00000447411.1	-	8	783	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	SLC38A4_ENST00000266579.4_Splice_Site_p.E193*	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	193					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGGTACCATTCTCTAGAAGTG	0.358																																						dbGAP											0													92.0	81.0	85.0					12																	47173644		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.576-1G>T	12.37:g.47173644C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K553	Nonsense_Mutation	SNP	pfam_AA_transpt_TM	p.E193*	ENST00000447411.1	37	c.577	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.203976	0.95033	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477	.	.	.	5.4	4.49	0.54785	.	0.058119	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-17.3206	16.3422	0.83085	0.0:0.8677:0.1322:0.0	.	.	.	.	X	193	.	ENSP00000266579:E193X	E	-	1	0	SLC38A4	45459911	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	5.670000	0.68088	1.368000	0.46115	0.555000	0.69702	GAA	SLC38A4	-	pfam_AA_transpt_TM	ENSG00000139209		0.358	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	239	0.42	1	C		Nonsense_Mutation	47173644	47173644	-1	no_errors	ENST00000266579	ensembl	human	known	69_37n	nonsense	156	12.36	22	SNP	1.000	A
SLC38A4	55089	genome.wustl.edu	37	12	47173742	47173742	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:47173742C>A	ENST00000447411.1	-	7	771	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	SLC38A4_ENST00000266579.4_Nonsense_Mutation_p.E189*	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	189					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCAGTATTTTCTTCAAGTCCC	0.368																																						dbGAP											0													177.0	147.0	157.0					12																	47173742		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.565G>T	12.37:g.47173742C>A	ENSP00000389843:p.Glu189*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K553	Nonsense_Mutation	SNP	pfam_AA_transpt_TM	p.E189*	ENST00000447411.1	37	c.565	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.675029	0.96764	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-24.1681	19.9404	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	X	189	.	ENSP00000266579:E189X	E	-	1	0	SLC38A4	45460009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.252000	0.78309	2.788000	0.95919	0.555000	0.69702	GAA	SLC38A4	-	pfam_AA_transpt_TM	ENSG00000139209		0.368	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	286	0.00	0	C			47173742	47173742	-1	no_errors	ENST00000266579	ensembl	human	known	69_37n	nonsense	180	12.62	26	SNP	1.000	A
SLC38A9	153129	genome.wustl.edu	37	5	54960639	54960639	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:54960639G>A	ENST00000396865.2	-	8	1170	c.579C>T	c.(577-579)ttC>ttT	p.F193F	SLC38A9_ENST00000515629.1_Silent_p.F130F|SLC38A9_ENST00000512595.1_Silent_p.F166F|SLC38A9_ENST00000416547.2_Silent_p.F69F|SLC38A9_ENST00000318672.3_Silent_p.F193F|SLC38A9_ENST00000539768.1_Silent_p.F193F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	193					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CAAAGGAGCCGAAATAATGTC	0.363																																						dbGAP											0													47.0	44.0	45.0					5																	54960639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.579C>T	5.37:g.54960639G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	pfam_AA_transpt_TM	p.F193	ENST00000396865.2	37	c.579	CCDS3968.1	5																																																																																			SLC38A9	-	pfam_AA_transpt_TM	ENSG00000177058		0.363	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A9	HGNC	protein_coding	OTTHUMT00000253912.2	69	0.00	0	G	NM_173514		54960639	54960639	-1	no_errors	ENST00000318672	ensembl	human	known	69_37n	silent	48	23.08	15	SNP	1.000	A
SLC39A1	27173	genome.wustl.edu	37	1	153935178	153935178	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153935178C>T	ENST00000368623.3	-	1	773	c.14G>A	c.(13-15)gGa>gAa	p.G5E	SLC39A1_ENST00000310483.6_Missense_Mutation_p.G5E|SLC39A1_ENST00000368621.1_Missense_Mutation_p.G5E|SLC39A1_ENST00000537590.1_5'UTR|SLC39A1_ENST00000356205.4_Missense_Mutation_p.G5E|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	5					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCTGGCTCTCCCCAGGGCCC	0.607																																						dbGAP											0													15.0	20.0	18.0					1																	153935178		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.14G>A	1.37:g.153935178C>T	ENSP00000357612:p.Gly5Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	pfam_ZIP	p.G5E	ENST00000368623.3	37	c.14	CCDS1055.1	1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995976	0.35226	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T	0.13420	2.81;2.81;2.81;2.81;2.81;2.59;2.6	5.19	-0.426	0.12314	.	0.408699	0.21006	N	0.081775	T	0.01254	0.0041	N	0.01352	-0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41124	-0.9526	10	0.46703	T	0.11	-1.6637	5.5378	0.17021	0.0:0.47:0.2732:0.2567	.	5	Q9NY26	S39A1_HUMAN	E	5	ENSP00000348535:G5E;ENSP00000357612:G5E;ENSP00000357610:G5E;ENSP00000309710:G5E;ENSP00000392950:G5E;ENSP00000392229:G5E;ENSP00000407717:G5E	ENSP00000309710:G5E	G	-	2	0	SLC39A1	152201802	0.052000	0.20516	0.996000	0.52242	0.561000	0.35649	-0.146000	0.10250	0.056000	0.16144	-0.221000	0.12465	GGA	SLC39A1	-	NULL	ENSG00000143570		0.607	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A1	HGNC	protein_coding	OTTHUMT00000090284.1	70	0.00	0	C	NM_014437		153935178	153935178	-1	no_errors	ENST00000310483	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.989	T
SLC39A10	57181	genome.wustl.edu	37	2	196544850	196544850	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:196544850A>G	ENST00000409086.3	+	2	359	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.E28E	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	28	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCCATGAAGAACATGACCATG	0.373																																						dbGAP											0													55.0	59.0	58.0					2																	196544850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.84A>G	2.37:g.196544850A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	pfam_ZIP	p.E28	ENST00000409086.3	37	c.84	CCDS33353.1	2																																																																																			SLC39A10	-	NULL	ENSG00000196950		0.373	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	114	0.00	0	A	XM_047707		196544850	196544850	+1	no_errors	ENST00000359634	ensembl	human	known	69_37n	silent	62	33.33	31	SNP	0.794	G
SLC39A2	29986	genome.wustl.edu	37	14	21469139	21469139	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21469139C>A	ENST00000298681.4	+	4	488	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	111					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CATCATCTCCCTGGGCTTCTT	0.507																																						dbGAP											0													279.0	291.0	287.0					14																	21469139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.331C>A	14.37:g.21469139C>A	ENSP00000298681:p.Leu111Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	pfam_ZIP	p.L111M	ENST00000298681.4	37	c.331	CCDS9563.1	14	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049348	0.19827	.	.	ENSG00000165794	ENST00000298681	T	0.54279	0.58	5.7	5.7	0.88788	.	0.261034	0.35235	N	0.003360	T	0.62344	0.2420	L	0.53561	1.675	0.37115	D	0.900527	D	0.89917	1.0	D	0.97110	1.0	T	0.60000	-0.7348	10	0.10377	T	0.69	-8.8976	10.7161	0.46013	0.0:0.9139:0.0:0.0861	.	111	Q9NP94	S39A2_HUMAN	M	111	ENSP00000298681:L111M	ENSP00000298681:L111M	L	+	1	2	SLC39A2	20538979	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.096000	0.30976	2.687000	0.91594	0.655000	0.94253	CTG	SLC39A2	-	pfam_ZIP	ENSG00000165794		0.507	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A2	HGNC	protein_coding	OTTHUMT00000073829.2	147	0.00	0	C	NM_014579		21469139	21469139	+1	no_errors	ENST00000298681	ensembl	human	known	69_37n	missense	140	27.08	52	SNP	1.000	A
SLC3A1	6519	genome.wustl.edu	37	2	44547764	44547764	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:44547764T>C	ENST00000260649.6	+	10	2120	c.2044T>C	c.(2044-2046)Tat>Cat	p.Y682H	PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.Y404H|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.Y313H	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	682					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAACATACTGTATACCTCGTG	0.418																																						dbGAP											0													70.0	59.0	62.0					2																	44547764		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.2044T>C	2.37:g.44547764T>C	ENSP00000260649:p.Tyr682His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.Y682H	ENST00000260649.6	37	c.2044	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348165	0.41599	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99277	-5.67;-5.02;-4.82	5.99	-2.83	0.05769	.	0.287346	0.40385	N	0.001120	D	0.97514	0.9186	L	0.57130	1.785	0.80722	D	1	B	0.20052	0.041	B	0.22386	0.039	D	0.90320	0.4344	10	0.45353	T	0.12	-6.0034	12.2	0.54319	0.0:0.4777:0.0:0.5223	.	682	Q07837	SLC31_HUMAN	H	682;618;404;313	ENSP00000260649:Y682H;ENSP00000386709:Y404H;ENSP00000386677:Y313H	ENSP00000260649:Y682H	Y	+	1	0	SLC3A1	44401268	0.983000	0.35010	0.004000	0.12327	0.132000	0.20833	0.831000	0.27476	-0.399000	0.07668	-0.256000	0.11100	TAT	SLC3A1	-	NULL	ENSG00000138079		0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	HGNC	protein_coding	OTTHUMT00000250676.1	63	0.00	0	T	NM_000341		44547764	44547764	+1	no_errors	ENST00000260649	ensembl	human	known	69_37n	missense	35	30.00	15	SNP	0.839	C
SLC43A1	8501	genome.wustl.edu	37	11	57263539	57263539	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:57263539G>A	ENST00000278426.3	-	7	1012	c.657C>T	c.(655-657)atC>atT	p.I219I	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Silent_p.I219I	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAAGGCTTCGATGGGCCAGT	0.567																																						dbGAP											0													75.0	60.0	65.0					11																	57263539		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.657C>T	11.37:g.57263539G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I219	ENST00000278426.3	37	c.657	CCDS7958.1	11																																																																																			SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000149150		0.567	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1	140	0.00	0	G	NM_003627		57263539	57263539	-1	no_errors	ENST00000278426	ensembl	human	known	69_37n	silent	65	18.75	15	SNP	0.000	A
SLC46A1	113235	genome.wustl.edu	37	17	26732244	26732244	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26732244G>A	ENST00000440501.1	-	2	566	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.F157F|CTD-2350C19.2_ENST00000580714.1_RNA|CTD-2350C19.1_ENST00000583956.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	157					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GAAGGCCACCGAAGTCGCCGA	0.637																																						dbGAP											0													17.0	24.0	21.0					17																	26732244		2128	4233	6361	-	-	-	SO:0001819	synonymous_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.471C>T	17.37:g.26732244G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HE20|Q86T92|Q8TEG3|Q96FL0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F157	ENST00000440501.1	37	c.471		17																																																																																			SLC46A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000076351		0.637	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SLC46A1	HGNC	protein_coding		56	0.00	0	G	NM_080669		26732244	26732244	-1	no_errors	ENST00000440501	ensembl	human	known	69_37n	silent	27	18.18	6	SNP	0.999	A
SLC46A3	283537	genome.wustl.edu	37	13	29286981	29286981	+	Missense_Mutation	SNP	T	T	C	rs538290533		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:29286981T>C	ENST00000266943.6	-	3	1265	c.896A>G	c.(895-897)tAt>tGt	p.Y299C	SLC46A3_ENST00000380814.4_Missense_Mutation_p.Y299C	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	299					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGCTGATCCATAACCTATAAA	0.348													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19308	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													90.0	89.0	89.0					13																	29286981		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.896A>G	13.37:g.29286981T>C	ENSP00000266943:p.Tyr299Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.Y299C	ENST00000266943.6	37	c.896	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717339	0.48622	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.58940	0.3;0.3	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.79926	2.475	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.993	T	0.78295	-0.2259	10	0.72032	D	0.01	-17.3662	10.4888	0.44739	0.0:0.0723:0.0:0.9277	.	224;299;299	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	C	299	ENSP00000266943:Y299C;ENSP00000370192:Y299C	ENSP00000266943:Y299C	Y	-	2	0	SLC46A3	28184981	1.000000	0.71417	0.970000	0.41538	0.413000	0.31143	5.571000	0.67404	2.281000	0.76405	0.533000	0.62120	TAT	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000139508		0.348	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	106	0.00	0	T	NM_181785		29286981	29286981	-1	no_errors	ENST00000266943	ensembl	human	known	69_37n	missense	81	19.61	20	SNP	0.999	C
SLC46A3	283537	genome.wustl.edu	37	13	29287127	29287127	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:29287127C>A	ENST00000266943.6	-	3	1119	c.750G>T	c.(748-750)aaG>aaT	p.K250N	SLC46A3_ENST00000380814.4_Missense_Mutation_p.K250N	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	250					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAGAAGCATTCTTAAAAAGCA	0.343																																						dbGAP											0													43.0	43.0	43.0					13																	29287127		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.750G>T	13.37:g.29287127C>A	ENSP00000266943:p.Lys250Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.K250N	ENST00000266943.6	37	c.750	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504148	0.44558	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.55234	0.53;0.53	5.63	3.19	0.36642	Major facilitator superfamily domain, general substrate transporter (1);	0.175184	0.52532	D	0.000061	T	0.64283	0.2584	M	0.63428	1.95	0.35589	D	0.806949	D;D;D	0.64830	0.994;0.993;0.994	D;P;D	0.63703	0.917;0.865;0.917	T	0.70730	-0.4792	10	0.52906	T	0.07	-25.2245	10.3168	0.43743	0.0:0.1342:0.0:0.8658	.	175;250;250	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	N	250	ENSP00000266943:K250N;ENSP00000370192:K250N	ENSP00000266943:K250N	K	-	3	2	SLC46A3	28185127	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	1.155000	0.31700	0.496000	0.27904	-0.294000	0.09567	AAG	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000139508		0.343	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	76	0.00	0	C	NM_181785		29287127	29287127	-1	no_errors	ENST00000266943	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.989	A
SLC46A3	283537	genome.wustl.edu	37	13	29292007	29292007	+	Silent	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:29292007A>C	ENST00000266943.6	-	2	498	c.129T>G	c.(127-129)tcT>tcG	p.S43S	SLC46A3_ENST00000380814.4_Silent_p.S43S	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	43					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TATTGCTATCAGATGAAAAAG	0.353																																						dbGAP											0													115.0	121.0	119.0					13																	29292007		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.129T>G	13.37:g.29292007A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S43	ENST00000266943.6	37	c.129	CCDS9332.1	13																																																																																			SLC46A3	-	pfam_MFS	ENSG00000139508		0.353	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	226	0.00	0	A	NM_181785		29292007	29292007	-1	no_errors	ENST00000266943	ensembl	human	known	69_37n	silent	88	28.23	35	SNP	0.000	C
SLC47A1	55244	genome.wustl.edu	37	17	19480671	19480671	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:19480671G>A	ENST00000270570.4	+	17	1604	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000395585.1_Silent_p.T506T|RP11-1113L8.1_ENST00000574267.1_RNA|AC025627.7_ENST00000420951.1_RNA|SLC47A1_ENST00000575023.1_Silent_p.T204T|SLC47A1_ENST00000457293.1_Silent_p.T506T|SLC47A1_ENST00000571335.1_Silent_p.T252T	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	506					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GAATTTTAACGAACGATGTTG	0.443																																						dbGAP											0													82.0	86.0	85.0					17																	19480671		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1518G>A	17.37:g.19480671G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	NULL	p.E33K	ENST00000270570.4	37	c.97	CCDS11209.1	17																																																																																			SLC47A1	-	NULL	ENSG00000142494		0.443	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	173	0.00	0	G	NM_018242		19480671	19480671	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000581558	ensembl	human	putative	69_37n	missense	61	21.79	17	SNP	0.001	A
SLC47A2	146802	genome.wustl.edu	37	17	19605986	19605986	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:19605986C>A	ENST00000325411.5	-	13	1254	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Splice_Site_p.D380Y	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	402					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GCAATGACATCTCTGCAGAAG	0.453																																						dbGAP											0													93.0	73.0	80.0					17																	19605986		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1203-1G>T	17.37:g.19605986C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.D402Y	ENST00000325411.5	37	c.1204	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561682	0.27915	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.33654	1.4;1.4	4.54	4.54	0.55810	.	0.253291	0.39341	N	0.001392	T	0.52837	0.1759	M	0.63843	1.955	0.80722	D	1	D;D;B	0.62365	0.991;0.991;0.407	P;D;B	0.66497	0.882;0.944;0.287	T	0.56195	-0.8019	10	0.87932	D	0	-5.5954	10.7769	0.46354	0.0:0.8064:0.1936:0.0	.	366;380;402	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	Y	380;402	ENSP00000338084:D380Y;ENSP00000326671:D402Y	ENSP00000326671:D402Y	D	-	1	0	SLC47A2	19546578	0.995000	0.38212	0.972000	0.41901	0.329000	0.28539	2.015000	0.40961	2.062000	0.61559	0.462000	0.41574	GAT	SLC47A2	-	pfam_MATE,tigrfam_MATE	ENSG00000180638		0.453	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	73	0.00	0	C	NM_152908	Missense_Mutation	19605986	19605986	-1	no_errors	ENST00000325411	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	1.000	A
SLC48A1	55652	genome.wustl.edu	37	12	48172902	48172902	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:48172902C>T	ENST00000442218.2	+	2	325	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SLC48A1_ENST00000547002.1_Silent_p.F19F|SLC48A1_ENST00000442892.2_Silent_p.F19F|SLC48A1_ENST00000476104.1_3'UTR	NM_017842.2	NP_060312.2	Q6P1K1	HRG1_HUMAN	solute carrier family 48 (heme transporter), member 1	76					heme transport (GO:0015886)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	heme transporter activity (GO:0015232)			large_intestine(1)|lung(3)|urinary_tract(1)	5						GCTTCTTCTTCGTGGGCGTCC	0.622											OREG0021755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													175.0	149.0	157.0					12																	48172902		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS8755.2	12q13.11	2013-05-22			ENSG00000211584	ENSG00000211584		"""Solute carriers"""	26035	protein-coding gene	gene with protein product		612187				18418376	Standard	NM_017842		Approved	FLJ20489, hHRG-1, HRG1	uc001rqd.3	Q6P1K1	OTTHUMG00000156983	ENST00000442218.2:c.228C>T	12.37:g.48172902C>T		Somatic	952	WXS	Illumina GAIIx	Phase_IV	Q9BUB3|Q9NX17	Silent	SNP	NULL	p.F76	ENST00000442218.2	37	c.228	CCDS8755.2	12																																																																																			SLC48A1	-	NULL	ENSG00000211584		0.622	SLC48A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC48A1	HGNC	protein_coding	OTTHUMT00000346966.1	161	0.00	0	C	NM_017842		48172902	48172902	+1	no_errors	ENST00000442218	ensembl	human	known	69_37n	silent	75	12.79	11	SNP	0.995	T
SLC4A10	57282	genome.wustl.edu	37	2	162760596	162760596	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:162760596T>C	ENST00000446997.1	+	13	1618	c.1525T>C	c.(1525-1527)Tgc>Cgc	p.C509R	SLC4A10_ENST00000375514.5_Missense_Mutation_p.C490R|SLC4A10_ENST00000272716.5_Missense_Mutation_p.C479R|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.C479R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.C509R	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	509					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CAGCCTGCAGTGCTTAGCATC	0.438																																						dbGAP											0													80.0	75.0	76.0					2																	162760596		1872	4128	6000	-	-	-	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1525T>C	2.37:g.162760596T>C	ENSP00000393066:p.Cys509Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.C509R	ENST00000446997.1	37	c.1525	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537044	0.85812	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.65	5.65	0.86999	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92456	0.7605	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.77557	0.986;0.986;0.99	D	0.94445	0.7662	10	0.87932	D	0	.	15.8684	0.79084	0.0:0.0:0.0:1.0	.	490;479;509	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	R	490;479;479;478;509;509;508	ENSP00000364664:C490R;ENSP00000395797:C479R;ENSP00000272716:C479R;ENSP00000393066:C509R;ENSP00000404486:C509R	ENSP00000272716:C479R	C	+	1	0	SLC4A10	162468842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.156000	0.67533	0.460000	0.39030	TGC	SLC4A10	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	181	0.00	0	T	NM_022058		162760596	162760596	+1	no_errors	ENST00000446997	ensembl	human	known	69_37n	missense	122	26.06	43	SNP	1.000	C
SLC4A4	8671	genome.wustl.edu	37	4	72363368	72363368	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:72363368G>T	ENST00000264485.5	+	16	2242	c.2125G>T	c.(2125-2127)Gct>Tct	p.A709S	SLC4A4_ENST00000340595.3_Missense_Mutation_p.A665S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A709S|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A709S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	709					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTCTTCCATGGCTCTGAAAAA	0.358																																						dbGAP											0													116.0	120.0	118.0					4																	72363368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2125G>T	4.37:g.72363368G>T	ENSP00000264485:p.Ala709Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A709S	ENST00000264485.5	37	c.2125	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873121	0.33069	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.59	5.59	0.84812	Bicarbonate transporter, C-terminal (1);	0.328529	0.36101	N	0.002799	T	0.61850	0.2380	N	0.04787	-0.16	0.50039	D	0.999849	B;B;B;B	0.22276	0.004;0.067;0.003;0.002	B;B;B;B	0.20955	0.016;0.032;0.006;0.01	T	0.56649	-0.7944	10	0.22109	T	0.4	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	709;709;665;709	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	S	709;709;709;665	ENSP00000264485:A709S;ENSP00000393557:A709S;ENSP00000307349:A709S;ENSP00000344272:A665S	ENSP00000264485:A709S	A	+	1	0	SLC4A4	72582232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.898000	0.56281	2.783000	0.95769	0.655000	0.94253	GCT	SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.358	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	484	0.00	0	G	NM_003759		72363368	72363368	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	missense	201	14.47	34	SNP	1.000	T
SLC4A5	57835	genome.wustl.edu	37	2	74482967	74482967	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:74482967G>A	ENST00000377634.4	-	13	1359	c.960C>T	c.(958-960)atC>atT	p.I320I	SLC4A5_ENST00000357822.5_Silent_p.I320I|SLC4A5_ENST00000358683.4_Silent_p.I256I|SLC4A5_ENST00000394019.2_Silent_p.I320I|SLC4A5_ENST00000359484.4_Silent_p.I256I|SLC4A5_ENST00000377632.1_Silent_p.I320I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Silent_p.I320I|SLC4A5_ENST00000423644.1_Silent_p.I320I|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCACGAACGCGATGAATGGCT	0.582																																						dbGAP											0													146.0	110.0	122.0					2																	74482967		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.960C>T	2.37:g.74482967G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.I320	ENST00000377634.4	37	c.960	CCDS1936.1	2																																																																																			SLC4A5	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000188687		0.582	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	301	0.00	0	G			74482967	74482967	-1	no_errors	ENST00000357822	ensembl	human	known	69_37n	silent	163	10.38	19	SNP	0.636	A
SLC4A9	83697	genome.wustl.edu	37	5	139752360	139752360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:139752360G>T	ENST00000230993.6	+	21	2964	c.2929G>T	c.(2929-2931)Gaa>Taa	p.E977*	SLC4A9_ENST00000506757.2_Nonsense_Mutation_p.E953*|SLC4A9_ENST00000506545.1_Nonsense_Mutation_p.E890*|SLC4A9_ENST00000432095.2_Nonsense_Mutation_p.E939*|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Nonsense_Mutation_p.E977*	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	977	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGGCTCCAGAAATCAACAT	0.468											OREG0016847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													32.0	33.0	33.0					5																	139752360		1928	4137	6065	-	-	-	SO:0001587	stop_gained	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2929G>T	5.37:g.139752360G>T	ENSP00000230993:p.Glu977*	Somatic	1651	WXS	Illumina GAIIx	Phase_IV	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E977*	ENST00000230993.6	37	c.2929	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.989433	0.98596	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	.	.	.	5.61	5.61	0.85477	.	0.000000	0.37857	N	0.001901	.	.	.	.	.	.	0.52099	A	0.999948	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.2329	0.93847	0.0:0.0:1.0:0.0	.	.	.	.	X	977;953;939;890;977	.	ENSP00000230993:E977X	E	+	1	0	SLC4A9	139732544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.548000	0.53670	2.663000	0.90544	0.555000	0.69702	GAA	SLC4A9	-	NULL	ENSG00000113073		0.468	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	215	0.00	0	G	NM_031467		139752360	139752360	+1	no_errors	ENST00000230993	ensembl	human	known	69_37n	nonsense	125	25.60	43	SNP	1.000	T
SLC51B	123264	genome.wustl.edu	37	15	65345332	65345332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:65345332G>T	ENST00000334287.2	+	4	538	c.217G>T	c.(217-219)Gaa>Taa	p.E73*		NM_178859.3	NP_849190.2	Q86UW2	OSTB_HUMAN	solute carrier family 51, beta subunit	73					bile acid and bile salt transport (GO:0015721)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACCAGAAAAAGAAACTCCAGA	0.507																																						dbGAP											0													81.0	82.0	81.0					15																	65345332		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0				CCDS10199.1	15q22.31	2013-05-22			ENSG00000186198	ENSG00000186198		"""Solute carriers"""	29956	protein-coding gene	gene with protein product	"""organic solute transporter beta subunit"""	612085				12719432, 20538072	Standard	NM_178859		Approved	OSTbeta	uc002aog.3	Q86UW2	OTTHUMG00000133116	ENST00000334287.2:c.217G>T	15.37:g.65345332G>T	ENSP00000335292:p.Glu73*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYF5	Nonsense_Mutation	SNP	NULL	p.E73*	ENST00000334287.2	37	c.217	CCDS10199.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.320405	0.97471	.	.	ENSG00000186198	ENST00000334287	.	.	.	5.14	3.26	0.37387	.	0.834297	0.11091	N	0.600736	.	.	.	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-0.3643	11.9724	0.53071	0.0:0.3751:0.6249:0.0	.	.	.	.	X	73	.	ENSP00000335292:E73X	E	+	1	0	AC013553.1	63132385	0.003000	0.15002	0.069000	0.20011	0.914000	0.54420	1.453000	0.35167	0.858000	0.35431	0.655000	0.94253	GAA	SLC51B	-	NULL	ENSG00000186198		0.507	SLC51B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51B	HGNC	protein_coding	OTTHUMT00000256783.1	156	0.00	0	G	NM_178859		65345332	65345332	+1	no_errors	ENST00000334287	ensembl	human	known	69_37n	nonsense	67	37.96	41	SNP	0.244	T
SLC52A3	113278	genome.wustl.edu	37	20	746383	746383	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:746383G>A	ENST00000217254.7	-	2	277	c.36C>T	c.(34-36)ttC>ttT	p.F12F	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Silent_p.F12F	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	12					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										AGCCCATTCCGAAGACGCAGA	0.637																																						dbGAP											0													30.0	32.0	31.0					20																	746383		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.36C>T	20.37:g.746383G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	pfam_Endogenous_retrovirus_rcpt	p.F12	ENST00000217254.7	37	c.36	CCDS13007.1	20																																																																																			SLC52A3	-	NULL	ENSG00000101276		0.637	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	49	0.00	0	G	NM_033409		746383	746383	-1	no_errors	ENST00000217254	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.524	A
SLC5A1	6523	genome.wustl.edu	37	22	32439355	32439355	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:32439355C>A	ENST00000266088.4	+	1	337	c.87C>A	c.(85-87)atC>atA	p.I29I		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	29					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CAGCCGATATCTCCATCATCG	0.612																																						dbGAP											0													139.0	104.0	116.0					22																	32439355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.87C>A	22.37:g.32439355C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I29	ENST00000266088.4	37	c.87	CCDS13902.1	22																																																																																			SLC5A1	-	pfscan_Na/solute_symporter	ENSG00000100170		0.612	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A1	HGNC	protein_coding	OTTHUMT00000075656.3	249	0.00	0	C	NM_000343		32439355	32439355	+1	no_errors	ENST00000266088	ensembl	human	known	69_37n	silent	114	19.01	27	SNP	1.000	A
SLC5A12	159963	genome.wustl.edu	37	11	26743194	26743194	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:26743194C>T	ENST00000396005.3	-	1	377	c.68G>A	c.(67-69)gGa>gAa	p.G23E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G23E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	23					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CACCCCAATTCCAGAGGAAAT	0.448																																						dbGAP											0													81.0	83.0	83.0					11																	26743194		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.68G>A	11.37:g.26743194C>T	ENSP00000379326:p.Gly23Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G23E	ENST00000396005.3	37	c.68	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947073	0.73672	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87412	-2.25;-1.88	5.59	5.59	0.84812	.	0.065326	0.64402	D	0.000014	D	0.91543	0.7329	M	0.88906	2.99	0.53005	D	0.999967	P;P	0.43973	0.794;0.823	P;P	0.45310	0.476;0.459	D	0.92063	0.5658	10	0.49607	T	0.09	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	23;23	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	E	23	ENSP00000379326:G23E;ENSP00000280467:G23E	ENSP00000280467:G23E	G	-	2	0	SLC5A12	26699770	0.997000	0.39634	1.000000	0.80357	0.959000	0.62525	2.602000	0.46257	2.643000	0.89663	0.585000	0.79938	GGA	SLC5A12	-	pfscan_Na/solute_symporter	ENSG00000148942		0.448	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	168	0.00	0	C	NM_178498		26743194	26743194	-1	no_errors	ENST00000396005	ensembl	human	known	69_37n	missense	144	14.29	24	SNP	1.000	T
SLC5A5	6528	genome.wustl.edu	37	19	17983485	17983485	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:17983485G>A	ENST00000222248.3	+	1	704	c.357G>A	c.(355-357)gaG>gaA	p.E119E		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	119					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCACCTACGAGGTACCGGACA	0.672																																					Melanoma(65;1008 1708 7910 46650)	dbGAP											0													46.0	43.0	44.0					19																	17983485		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.357+1G>A	19.37:g.17983485G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43702|Q2M335|Q9NYB6	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.E119	ENST00000222248.3	37	c.357	CCDS12368.1	19																																																																																			SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.672	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	36	0.00	0	G		Silent	17983485	17983485	+1	no_errors	ENST00000222248	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	A
SLC5A6	8884	genome.wustl.edu	37	2	27423438	27423438	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27423438C>T	ENST00000310574.3	-	17	2247	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Missense_Mutation_p.D592N	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	592					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGGCCAGTGTCGAGGTGGTCC	0.587																																						dbGAP											0													62.0	56.0	58.0					2																	27423438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1774G>A	2.37:g.27423438C>T	ENSP00000310208:p.Asp592Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D592N	ENST00000310574.3	37	c.1774	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185004	0.38609	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.85411	-1.98;-1.98	4.94	4.05	0.47172	.	0.824728	0.10986	N	0.612197	T	0.70430	0.3223	N	0.14661	0.345	0.09310	N	1	P	0.37158	0.585	B	0.30401	0.115	T	0.57728	-0.7761	10	0.26408	T	0.33	.	9.7925	0.40715	0.0:0.9044:0.0:0.0956	.	592	Q9Y289	SC5A6_HUMAN	N	592	ENSP00000310208:D592N;ENSP00000384853:D592N	ENSP00000310208:D592N	D	-	1	0	SLC5A6	27276942	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.209000	0.17435	1.410000	0.46936	0.563000	0.77884	GAC	SLC5A6	-	NULL	ENSG00000138074		0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	181	0.00	0	C	NM_021095		27423438	27423438	-1	no_errors	ENST00000310574	ensembl	human	known	69_37n	missense	122	17.45	26	SNP	0.007	T
SLC6A15	55117	genome.wustl.edu	37	12	85285912	85285912	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:85285912G>A	ENST00000266682.5	-	0	529				SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_5'UTR|SLC6A15_ENST00000551388.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15						amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGAGTATGCGAAGtatttaa	0.338																																						dbGAP											0													98.0	94.0	96.0					12																	85285912		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.-13C>T	12.37:g.85285912G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	RNA	SNP	-	NULL	ENST00000266682.5	37	NULL	CCDS9026.1	12																																																																																			SLC6A15	-	-	ENSG00000072041		0.338	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	176	0.00	0	G	NM_018057, NM_182767		85285912	85285912	-1	no_errors	ENST00000551010	ensembl	human	known	69_37n	rna	157	14.52	27	SNP	0.000	A
SLC6A16	28968	genome.wustl.edu	37	19	49812343	49812343	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:49812343G>A	ENST00000335875.4	-	7	1260	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.S340F	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	340					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCCTGCTAGAGACCACACACT	0.453																																						dbGAP											0													172.0	155.0	161.0					19																	49812343		1971	4140	6111	-	-	-	SO:0001583	missense	0			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1019C>T	19.37:g.49812343G>A	ENSP00000338627:p.Ser340Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.S340F	ENST00000335875.4	37	c.1019	CCDS42590.1	19	.	.	.	.	.	.	.	.	.	.	G	8.665	0.901531	0.17760	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.74106	-0.81;-0.81	4.19	-6.38	0.01957	.	1.278770	0.05222	N	0.508781	T	0.52370	0.1730	N	0.17082	0.46	0.09310	N	1	B;B	0.17038	0.02;0.02	B;B	0.17433	0.011;0.018	T	0.38693	-0.9649	10	0.48119	T	0.1	.	3.8747	0.09051	0.0993:0.503:0.1292:0.2686	.	340;340	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	F	340	ENSP00000338627:S340F;ENSP00000404022:S340F	ENSP00000338627:S340F	S	-	2	0	SLC6A16	54504155	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.250000	0.18235	-1.021000	0.03350	-0.311000	0.09066	TCT	SLC6A16	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000063127		0.453	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A16	HGNC	protein_coding	OTTHUMT00000465503.2	203	0.00	0	G	NM_014037		49812343	49812343	-1	no_errors	ENST00000335875	ensembl	human	known	69_37n	missense	209	12.81	31	SNP	0.000	A
SLC6A17	388662	genome.wustl.edu	37	1	110734722	110734722	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:110734722C>T	ENST00000331565.4	+	7	1478	c.993C>T	c.(991-993)ttC>ttT	p.F331F		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	331					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACTGCCACTTCGATGCCGCCC	0.552																																						dbGAP											0													166.0	131.0	143.0					1																	110734722		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.993C>T	1.37:g.110734722C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.F331	ENST00000331565.4	37	c.993	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000197106		0.552	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	314	0.00	0	C	XM_371280		110734722	110734722	+1	no_errors	ENST00000331565	ensembl	human	known	69_37n	silent	167	18.05	37	SNP	0.224	T
SLC6A6	6533	genome.wustl.edu	37	3	14485283	14485283	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:14485283G>T	ENST00000454876.2	+	3	470	c.141G>T	c.(139-141)aaG>aaT	p.K47N	SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000360861.3_Missense_Mutation_p.K47N|SLC6A6_ENST00000416216.2_Missense_Mutation_p.K47N			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	47					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTCTAGCAAGATCGACTTTG	0.607																																						dbGAP											0													126.0	114.0	118.0					3																	14485283		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.141G>T	3.37:g.14485283G>T	ENSP00000398063:p.Lys47Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.K47N	ENST00000454876.2	37	c.141	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442408	0.83993	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216;ENST00000452775	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	4.75	3.87	0.44632	.	0.044613	0.85682	D	0.000000	D	0.85431	0.5695	M	0.87381	2.88	0.80722	D	1	P;P	0.36974	0.576;0.576	P;P	0.49561	0.615;0.615	D	0.87917	0.2701	10	0.87932	D	0	.	12.3016	0.54878	0.0827:0.0:0.9173:0.0	.	47;47	B2RNU7;P31641	.;SC6A6_HUMAN	N	47	ENSP00000398063:K47N;ENSP00000354107:K47N;ENSP00000401167:K47N;ENSP00000402059:K47N	ENSP00000354107:K47N	K	+	3	2	SLC6A6	14460287	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.632000	0.74281	2.185000	0.69588	0.585000	0.79938	AAG	SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000131389		0.607	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	506	0.20	1	G	NM_003043		14485283	14485283	+1	no_errors	ENST00000360861	ensembl	human	known	69_37n	missense	336	13.18	51	SNP	1.000	T
SLC7A11	23657	genome.wustl.edu	37	4	139100403	139100403	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:139100403T>C	ENST00000280612.5	-	11	1691	c.1412A>G	c.(1411-1413)gAc>gGc	p.D471G	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	471					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GGGTTTCTTGTCCCATATAAT	0.418																																						dbGAP											0													61.0	60.0	60.0					4																	139100403		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1412A>G	4.37:g.139100403T>C	ENSP00000280612:p.Asp471Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2U4	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.D471G	ENST00000280612.5	37	c.1412	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277970	0.59758	.	.	ENSG00000151012	ENST00000280612	D	0.90133	-2.62	5.45	5.45	0.79879	.	0.194052	0.53938	D	0.000050	D	0.86406	0.5925	L	0.36672	1.1	0.47374	D	0.999405	B	0.12013	0.005	B	0.10450	0.005	T	0.82131	-0.0609	10	0.36615	T	0.2	.	15.5284	0.75932	0.0:0.0:0.0:1.0	.	471	Q9UPY5	XCT_HUMAN	G	471	ENSP00000280612:D471G	ENSP00000280612:D471G	D	-	2	0	SLC7A11	139319853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.901000	0.69861	2.059000	0.61396	0.533000	0.62120	GAC	SLC7A11	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.418	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	162	0.00	0	T			139100403	139100403	-1	no_errors	ENST00000280612	ensembl	human	known	69_37n	missense	87	12.87	13	SNP	1.000	C
SLC7A13	157724	genome.wustl.edu	37	8	87229945	87229945	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:87229945C>T	ENST00000297524.3	-	3	1036	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Silent_p.S302S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	311						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388																																						dbGAP											0													84.0	97.0	93.0					8																	87229945		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.933G>A	8.37:g.87229945C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C37|Q08AH9|Q96N84	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.S311	ENST00000297524.3	37	c.933	CCDS34917.1	8																																																																																			SLC7A13	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000164893		0.388	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	HGNC	protein_coding	OTTHUMT00000374704.1	77	0.00	0	C	NM_138817		87229945	87229945	-1	no_errors	ENST00000297524	ensembl	human	known	69_37n	silent	31	35.42	17	SNP	0.001	T
SLC7A3	84889	genome.wustl.edu	37	X	70146752	70146752	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70146752T>A	ENST00000374299.3	-	9	1570	c.1426A>T	c.(1426-1428)Att>Ttt	p.I476F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.I476F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	476					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACATAGACAATTTGGCCAGAG	0.493																																						dbGAP											0													95.0	83.0	87.0					X																	70146752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1426A>T	X.37:g.70146752T>A	ENSP00000363417:p.Ile476Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.I476F	ENST00000374299.3	37	c.1426	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633469	0.47049	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88818	-2.43;-2.43	5.31	-1.03	0.10102	.	0.264374	0.42172	D	0.000755	D	0.83830	0.5339	L	0.49350	1.555	0.23926	N	0.996446	B	0.21688	0.059	B	0.26202	0.067	T	0.75124	-0.3428	10	0.72032	D	0.01	.	10.133	0.42691	0.0:0.2905:0.0:0.7095	.	476	Q8WY07	CTR3_HUMAN	F	476	ENSP00000363417:I476F;ENSP00000298085:I476F	ENSP00000298085:I476F	I	-	1	0	SLC7A3	70063477	0.022000	0.18835	0.783000	0.31826	0.920000	0.55202	-0.016000	0.12613	-0.240000	0.09696	-0.296000	0.09543	ATT	SLC7A3	-	pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000165349		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	350	0.00	0	T	NM_032803		70146752	70146752	-1	no_errors	ENST00000298085	ensembl	human	known	69_37n	missense	352	13.73	56	SNP	0.011	A
SLC7A4	6545	genome.wustl.edu	37	22	21385348	21385348	+	Missense_Mutation	SNP	C	C	T	rs555006772		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:21385348C>T	ENST00000382932.2	-	2	821	c.754G>A	c.(754-756)Gac>Aac	p.D252N	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.D252N	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	252					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCAATGACGTCGAAGCCCACG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20071	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													53.0	49.0	50.0					22																	21385348		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.754G>A	22.37:g.21385348C>T	ENSP00000372390:p.Asp252Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.D252N	ENST00000382932.2	37	c.754	CCDS33608.1	22	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943574	0.92593	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.90133	-2.62;-2.62	5.28	5.28	0.74379	Amino acid permease domain (1);	0.048650	0.85682	D	0.000000	D	0.96500	0.8858	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97008	0.9734	10	0.59425	D	0.04	.	16.7863	0.85575	0.0:1.0:0.0:0.0	.	252	O43246	CTR4_HUMAN	N	252	ENSP00000384278:D252N;ENSP00000372390:D252N	ENSP00000372390:D252N	D	-	1	0	SLC7A4	19715348	1.000000	0.71417	0.943000	0.38184	0.620000	0.37586	7.381000	0.79718	2.626000	0.88956	0.561000	0.74099	GAC	SLC7A4	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000099960		0.632	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	35	0.00	0	C	NM_004173		21385348	21385348	-1	no_errors	ENST00000382932	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	1.000	T
SLC7A4	6545	genome.wustl.edu	37	22	21385748	21385748	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:21385748G>A	ENST00000382932.2	-	2	421	c.354C>T	c.(352-354)atC>atT	p.I118I	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.I118I|MIR649_ENST00000384843.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	118					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATTCCAGCCGATGAGGAAGG	0.597																																						dbGAP											0													52.0	42.0	45.0					22																	21385748		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.354C>T	22.37:g.21385748G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.I118	ENST00000382932.2	37	c.354	CCDS33608.1	22																																																																																			SLC7A4	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000099960		0.597	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	46	0.00	0	G	NM_004173		21385748	21385748	-1	no_errors	ENST00000382932	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	0.228	A
SLC7A9	11136	genome.wustl.edu	37	19	33359367	33359367	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:33359367C>T	ENST00000023064.4	-	2	265	c.74G>A	c.(73-75)aGt>aAt	p.S25N	SLC7A9_ENST00000590341.1_Missense_Mutation_p.S25N|SLC7A9_ENST00000587772.1_Missense_Mutation_p.S25N	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	25					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTTTTGGAGACTGGTGGTCTT	0.587																																					GBM(181;1335 2108 9644 44178 46689)	dbGAP											0													150.0	107.0	122.0					19																	33359367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.74G>A	19.37:g.33359367C>T	ENSP00000023064:p.Ser25Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A6	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.S25N	ENST00000023064.4	37	c.74	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723711	0.03158	.	.	ENSG00000021488	ENST00000023064	D	0.89681	-2.55	5.29	-9.89	0.00464	.	0.949620	0.08987	N	0.865002	T	0.67202	0.2868	N	0.04820	-0.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56269	-0.8007	10	0.19147	T	0.46	.	5.7959	0.18387	0.085:0.3252:0.0845:0.5054	.	25	P82251	BAT1_HUMAN	N	25	ENSP00000023064:S25N	ENSP00000023064:S25N	S	-	2	0	SLC7A9	38051207	0.000000	0.05858	0.001000	0.08648	0.167000	0.22549	-3.677000	0.00396	-1.664000	0.01479	-1.871000	0.00553	AGT	SLC7A9	-	pirsf_AA/rel_permease1	ENSG00000021488		0.587	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	95	0.00	0	C			33359367	33359367	-1	no_errors	ENST00000023064	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	0.001	T
SLC8A1	6546	genome.wustl.edu	37	2	40404915	40404915	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:40404915T>G	ENST00000403092.1	-	3	1949				SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000542756.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.K630T|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.K630T|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000332839.4_Intron|SLC8A1_ENST00000402441.1_Missense_Mutation_p.K630T|SLC8A1_ENST00000406785.2_Missense_Mutation_p.K630T|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.K630T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.K630T|SLC8A1-AS1_ENST00000599956.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCTTATCCATTTTGGTTCCTC	0.413																																						dbGAP											0													221.0	186.0	196.0					2																	40404915		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1915+611A>C	2.37:g.40404915T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,prints_NaCa_exhngr1,pfscan_DnaJ_N,tigrfam_Na_Ca_Ex	p.K630T	ENST00000403092.1	37	c.1889	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587998	0.28268	.	.	ENSG00000183023	ENST00000406785;ENST00000402441;ENST00000405269;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	5.12	0.43	0.16515	.	.	.	.	.	T	0.18467	0.0443	L	0.37800	1.135	0.09310	N	0.999999	B;B;B	0.25007	0.116;0.0;0.031	B;B;B	0.23419	0.046;0.002;0.029	T	0.25363	-1.0134	9	0.28530	T	0.3	.	9.1573	0.37000	0.6361:0.0:0.0:0.3639	.	630;630;630	P32418-4;P32418-2;P32418-3	.;.;.	T	630	ENSP00000383886:K630T;ENSP00000385188:K630T;ENSP00000385535:K630T;ENSP00000384908:K630T;ENSP00000385811:K630T;ENSP00000443515:K630T	ENSP00000385188:K630T	K	-	2	0	SLC8A1	40258419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.244000	0.32778	0.306000	0.22856	-0.336000	0.08194	AAA	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	444	0.00	0	T	NM_021097		40404915	40404915	-1	no_errors	ENST00000408028	ensembl	human	known	69_37n	missense	287	10.59	34	SNP	1.000	G
SLC8A1	6546	genome.wustl.edu	37	2	40657129	40657129	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:40657129G>A	ENST00000403092.1	-	2	325	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	SLC8A1_ENST00000542756.1_Missense_Mutation_p.R98W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R98W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R98W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R98W|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R98W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R98W|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R98W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R98W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R98W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	98					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GACATGAACCGATCAGCTATG	0.423																																						dbGAP											0													106.0	109.0	108.0					2																	40657129		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.292C>T	2.37:g.40657129G>A	ENSP00000384763:p.Arg98Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.R98W	ENST00000403092.1	37	c.292	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002738	0.54254	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.59	2.66	0.31614	Sodium/calcium exchanger membrane region (1);	0.053328	0.85682	D	0.000000	T	0.81235	0.4780	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;1.0;0.999;1.0	T	0.83138	-0.0110	10	0.87932	D	0	.	12.8232	0.57704	0.0:0.0:0.5441:0.4559	.	98;98;98;98;98	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	W	98	ENSP00000383886:R98W;ENSP00000440727:R98W;ENSP00000384763:R98W;ENSP00000385678:R98W;ENSP00000385188:R98W;ENSP00000385535:R98W;ENSP00000332931:R98W;ENSP00000384908:R98W;ENSP00000385811:R98W;ENSP00000443515:R98W	ENSP00000332931:R98W	R	-	1	2	SLC8A1	40510633	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	5.494000	0.66905	0.247000	0.21414	0.563000	0.77884	CGG	SLC8A1	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000183023		0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	280	0.00	0	G	NM_021097		40657129	40657129	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	199	13.10	30	SNP	1.000	A
SLC9A7	84679	genome.wustl.edu	37	X	46466593	46466593	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:46466593C>T	ENST00000328306.4	-	17	1997	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	658					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGTCGCCTTCGGTCAGGATG	0.517																																					Pancreas(118;454 1696 1930 13865 39976)	dbGAP											0													57.0	42.0	47.0					X																	46466593		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1972G>A	X.37:g.46466593C>T	ENSP00000330320:p.Glu658Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E658K	ENST00000328306.4	37	c.1972	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	C	16.90	3.250408	0.59212	.	.	ENSG00000065923	ENST00000328306	T	0.35236	1.32	5.1	5.1	0.69264	.	0.049759	0.85682	D	0.000000	T	0.27798	0.0684	L	0.40543	1.245	0.54753	D	0.99998	P	0.39883	0.693	B	0.29942	0.109	T	0.06320	-1.0833	10	0.23891	T	0.37	.	17.7099	0.88319	0.0:1.0:0.0:0.0	.	658	Q96T83	SL9A7_HUMAN	K	658	ENSP00000330320:E658K	ENSP00000330320:E658K	E	-	1	0	SLC9A7	46351537	1.000000	0.71417	0.887000	0.34795	0.460000	0.32559	7.184000	0.77705	2.368000	0.80403	0.590000	0.80494	GAA	SLC9A7	-	NULL	ENSG00000065923		0.517	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	135	0.00	0	C	NM_032591		46466593	46466593	-1	no_errors	ENST00000328306	ensembl	human	known	69_37n	missense	89	24.58	29	SNP	0.998	T
SLC9A7P1	121456	genome.wustl.edu	37	12	98849759	98849759	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:98849759C>T	ENST00000554295.1	-	0	1164					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GCTACAACGCCTGTAAATCCG	0.498																																						dbGAP											0																																										-	-	-			0					12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849759C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000554295.1	37	NULL		12																																																																																			SLC9A7P1	-	-	ENSG00000227825		0.498	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	SLC9A7P1	HGNC	pseudogene	OTTHUMT00000409869.1	105	0.00	0	C			98849759	98849759	-1	no_errors	ENST00000554295	ensembl	human	putative	69_37n	rna	86	21.10	23	SNP	1.000	T
SLC9C1	285335	genome.wustl.edu	37	3	111958819	111958819	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:111958819C>T	ENST00000305815.5	-	12	1566	c.1314G>A	c.(1312-1314)tcG>tcA	p.S438S	SLC9C1_ENST00000487372.1_Silent_p.S390S	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	438					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TGCAACAAACCGATTTATATT	0.363																																						dbGAP											0													122.0	109.0	113.0					3																	111958819		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1314G>A	3.37:g.111958819C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRP4|Q7RTP2	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S438	ENST00000305815.5	37	c.1314	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.363	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	441	0.00	0	C	NM_183061		111958819	111958819	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	silent	258	14.85	45	SNP	0.909	T
SLC9A9	285195	genome.wustl.edu	37	3	143293004	143293004	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:143293004G>A	ENST00000316549.6	-	8	1134	c.926C>T	c.(925-927)cCg>cTg	p.P309L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	309					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTCCAGCATCGGGAACTCACA	0.488																																						dbGAP											0													65.0	64.0	65.0					3																	143293004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.926C>T	3.37:g.143293004G>A	ENSP00000320246:p.Pro309Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P309L	ENST00000316549.6	37	c.926	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130550	0.77549	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15834	2.39	5.15	5.15	0.70609	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000007	T	0.49949	0.1587	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59241	-0.7491	10	0.87932	D	0	.	18.6273	0.91346	0.0:0.0:1.0:0.0	.	309	Q8IVB4	SL9A9_HUMAN	L	309;192	ENSP00000320246:P309L	ENSP00000320246:P309L	P	-	2	0	SLC9A9	144775694	1.000000	0.71417	0.945000	0.38365	0.473000	0.32948	7.407000	0.80029	2.403000	0.81681	0.563000	0.77884	CCG	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.488	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	245	0.00	0	G	NM_173653		143293004	143293004	-1	no_errors	ENST00000316549	ensembl	human	known	69_37n	missense	172	31.20	78	SNP	1.000	A
SLC9C2	284525	genome.wustl.edu	37	1	173545839	173545839	+	Missense_Mutation	SNP	G	G	T	rs368702939		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:173545839G>T	ENST00000367714.3	-	8	1285	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	SLC9C2_ENST00000536496.1_Missense_Mutation_p.S186Y|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	288					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAAAGTTAAAGAATCTAAATT	0.383																																						dbGAP											0													75.0	74.0	74.0					1																	173545839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.863C>A	1.37:g.173545839G>T	ENSP00000356687:p.Ser288Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S288Y	ENST00000367714.3	37	c.863	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841874	0.71488	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.14022	2.54;2.54	5.48	5.48	0.80851	Cation/H+ exchanger (1);	0.000000	0.56097	D	0.000035	T	0.26268	0.0641	M	0.65498	2.005	0.32935	D	0.517654	D	0.89917	1.0	D	0.97110	1.0	T	0.02574	-1.1139	10	0.62326	D	0.03	-24.5839	14.8871	0.70579	0.0:0.0:1.0:0.0	.	288	Q5TAH2	S9A11_HUMAN	Y	288;186	ENSP00000356687:S288Y;ENSP00000445437:S186Y	ENSP00000356687:S288Y	S	-	2	0	SLC9A11	171812462	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	2.830000	0.48136	2.572000	0.86782	0.655000	0.94253	TCT	SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.383	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	120	0.00	0	G	NM_178527		173545839	173545839	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	missense	54	11.29	7	SNP	1.000	T
SLCO1B7	338821	genome.wustl.edu	37	12	21168707	21168708	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:21168707_21168708CG>TA	ENST00000421593.2	+	1	78_79	c.78_79CG>TA	c.(76-81)ttCGaa>ttTAaa	p.E27K	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E27K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATGGAAGCTTCGAAATAGGTAG	0.312																																						dbGAP											1	Substitution - Missense(1)	skin(1)																																								-	-	-	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	Exception_encountered	12.37:g.21168707_21168708delinsTA	ENSP00000394168:p.Glu27Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71QF0	Silent|Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F26|p.E27K	ENST00000421593.2	37	c.78|c.79	CCDS44843.1	12																																																																																			SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.312	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	635|629	0.00|0.16	0|1	C|G	NM_001009562		21168707|21168708	21168707|21168708	+1	no_errors	ENST00000421593	ensembl	human	known	69_37n	silent|missense	392|405	27.27|24.81	147|134	SNP	1.000	T|A
SLCO1C1	53919	genome.wustl.edu	37	12	20893295	20893295	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:20893295C>T	ENST00000266509.2	+	12	2094	c.1726C>T	c.(1726-1728)Ctt>Ttt	p.L576F	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.L576F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.L576F|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.L527F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.L458F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	576					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATACATATTACTTCTGAGGTG	0.358																																						dbGAP											0													149.0	146.0	147.0					12																	20893295		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1726C>T	12.37:g.20893295C>T	ENSP00000266509:p.Leu576Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L576F	ENST00000266509.2	37	c.1726	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796248	0.70567	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;D	0.82344	0.17;0.17;0.17;0.17;-1.6	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	M	0.66939	2.045	0.80722	D	1	D;D;P;P	0.71674	0.998;0.992;0.559;0.559	D;D;P;P	0.72982	0.962;0.979;0.665;0.519	D	0.89115	0.3499	10	0.41790	T	0.15	.	18.5625	0.91105	0.0:1.0:0.0:0.0	.	458;527;576;576	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	F	576;527;576;576;458	ENSP00000444149:L576F;ENSP00000438665:L527F;ENSP00000266509:L576F;ENSP00000370964:L576F;ENSP00000444527:L458F	ENSP00000266509:L576F	L	+	1	0	SLCO1C1	20784562	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	5.457000	0.66672	2.605000	0.88082	0.655000	0.94253	CTT	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.358	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	318	0.00	0	C	NM_017435		20893295	20893295	+1	no_errors	ENST00000381552	ensembl	human	known	69_37n	missense	244	20.97	65	SNP	1.000	T
SLCO1B7	338821	genome.wustl.edu	37	12	21200028	21200028	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:21200028T>C	ENST00000421593.2	+	7	871	c.871T>C	c.(871-873)Tat>Cat	p.Y291H	LST3_ENST00000381541.3_Missense_Mutation_p.Y338H|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.Y338H|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAATCCCCTGTATGTTATATT	0.308																																						dbGAP											0													68.0	69.0	69.0					12																	21200028		2182	4285	6467	-	-	-	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.871T>C	12.37:g.21200028T>C	ENSP00000394168:p.Tyr291His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.Y338H	ENST00000421593.2	37	c.1012	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	17.23	3.337522	0.60963	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.48201	0.82;0.82;0.82	3.21	3.21	0.36854	.	0.065661	0.64402	D	0.000006	T	0.69242	0.3089	M	0.92077	3.27	0.20975	N	0.999814	D;D	0.67145	0.959;0.996	P;P	0.61592	0.891;0.891	T	0.63287	-0.6671	10	0.87932	D	0	.	9.3696	0.38246	0.0:0.0:0.0:1.0	.	291;338	G3V0H7;F5H094	.;.	H	338;338;291	ENSP00000370952:Y338H;ENSP00000452013:Y338H;ENSP00000394168:Y291H	ENSP00000370952:Y338H	Y	+	1	0	SLCO1B7;RP11-545J16.1	21091295	0.999000	0.42202	0.018000	0.16275	0.479000	0.33129	5.212000	0.65225	1.443000	0.47586	0.377000	0.23210	TAT	SLCO1B7	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.308	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	514	0.19	1	T	NM_001009562		21200028	21200028	+1	no_errors	ENST00000554957	ensembl	human	known	69_37n	missense	253	12.46	36	SNP	0.293	C
SLCO2A1	6578	genome.wustl.edu	37	3	133673841	133673841	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:133673841G>T	ENST00000310926.4	-	4	867	c.594C>A	c.(592-594)ttC>ttA	p.F198L	SLCO2A1_ENST00000493729.1_Intron|SLCO2A1_ENST00000478651.1_5'Flank	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	198					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TGGGCTCTGAGAAGTCATCCA	0.582																																						dbGAP											0													84.0	82.0	83.0					3																	133673841		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.594C>A	3.37:g.133673841G>T	ENSP00000311291:p.Phe198Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F198L	ENST00000310926.4	37	c.594	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800961	0.50315	.	.	ENSG00000174640	ENST00000310926	T	0.47177	0.85	5.89	-2.1	0.07210	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70596	0.3242	M	0.91140	3.18	0.80722	D	1	P;D	0.89917	0.944;1.0	P;D	0.91635	0.671;0.999	T	0.75587	-0.3266	10	0.66056	D	0.02	.	13.7945	0.63162	0.6798:0.0:0.3202:0.0	.	198;198	F8W9W8;Q92959	.;SO2A1_HUMAN	L	198	ENSP00000311291:F198L	ENSP00000311291:F198L	F	-	3	2	SLCO2A1	135156531	0.999000	0.42202	0.398000	0.26321	0.008000	0.06430	0.783000	0.26802	-0.438000	0.07232	-0.258000	0.10820	TTC	SLCO2A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	70	0.00	0	G	NM_005630		133673841	133673841	-1	no_errors	ENST00000310926	ensembl	human	known	69_37n	missense	53	19.70	13	SNP	0.761	T
SLFN12L	100506736	genome.wustl.edu	37	17	33805116	33805116	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33805116C>T	ENST00000260908.7	-	3	1299	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	SLFN12L_ENST00000449046.1_Silent_p.Q425Q|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Silent_p.Q423Q	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	394						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						ATCTCAGTGGCTGAATTTTGA	0.418																																						dbGAP											0													119.0	107.0	110.0					17																	33805116		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1182G>A	17.37:g.33805116C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H6G3	Silent	SNP	pfam_ATPase_AAA-4	p.Q425	ENST00000260908.7	37	c.1275	CCDS56026.1	17																																																																																			SLFN12L	-	NULL	ENSG00000205045		0.418	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	328	0.00	0	C	XM_496206		33805116	33805116	-1	no_errors	ENST00000449046	ensembl	human	known	69_37n	silent	222	12.25	31	SNP	0.000	T
SLFN12L	100506736	genome.wustl.edu	37	17	33805145	33805145	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33805145G>T	ENST00000260908.7	-	3	1270	c.1153C>A	c.(1153-1155)Ctt>Att	p.L385I	SLFN12L_ENST00000449046.1_Missense_Mutation_p.L416I|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Missense_Mutation_p.L414I	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	385						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TATTCACGAAGAGGATAACTC	0.388																																						dbGAP											0													134.0	120.0	124.0					17																	33805145		692	1591	2283	-	-	-	SO:0001583	missense	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1153C>A	17.37:g.33805145G>T	ENSP00000437635:p.Leu385Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H6G3	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.L416I	ENST00000260908.7	37	c.1246	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.383324	0.00205	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	T;T;T	0.03860	3.8;3.9;3.78	1.27	-2.55	0.06288	.	.	.	.	.	T	0.02610	0.0079	N	0.22421	0.69	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.48198	-0.9056	9	0.12766	T	0.61	.	4.2001	0.10462	0.0:0.423:0.3507:0.2263	.	414	Q6IEE8-2	.	I	385;414;416	ENSP00000437635:L385I;ENSP00000354412:L414I;ENSP00000389348:L416I	ENSP00000437635:L385I	L	-	1	0	SLFN12L	30829258	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.298000	0.01140	-1.435000	0.01972	0.205000	0.17691	CTT	SLFN12L	-	NULL	ENSG00000205045		0.388	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	346	0.00	0	G	XM_496206		33805145	33805145	-1	no_errors	ENST00000449046	ensembl	human	known	69_37n	missense	233	12.08	32	SNP	0.000	T
SLFN14	342618	genome.wustl.edu	37	17	33875698	33875698	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33875698C>T	ENST00000415846.3	-	4	2334	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K		NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	767							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						TAGGCAGTCTCGCTGAACAAT	0.458																																						dbGAP											0													89.0	71.0	77.0					17																	33875698		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.2299G>A	17.37:g.33875698C>T	ENSP00000391101:p.Glu767Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW9	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.E767K	ENST00000415846.3	37	c.2299	CCDS45650.1	17	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265322	0.40095	.	.	ENSG00000236320	ENST00000415846	T	0.02301	4.35	5.38	4.42	0.53409	.	.	.	.	.	T	0.09598	0.0236	M	0.68317	2.08	0.09310	N	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.12941	-1.0528	9	0.41790	T	0.15	.	9.6778	0.40052	0.0:0.9079:0.0:0.0921	.	767	P0C7P3	SLN14_HUMAN	K	767	ENSP00000391101:E767K	ENSP00000391101:E767K	E	-	1	0	SLFN14	30899811	0.001000	0.12720	0.042000	0.18584	0.006000	0.05464	0.564000	0.23563	1.504000	0.48704	0.655000	0.94253	GAG	SLFN14	-	NULL	ENSG00000236320		0.458	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	175	0.00	0	C	NM_001129820		33875698	33875698	-1	no_errors	ENST00000415846	ensembl	human	known	69_37n	missense	73	34.82	39	SNP	0.317	T
SLFN14	342618	genome.wustl.edu	37	17	33880334	33880334	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33880334C>A	ENST00000415846.3	-	3	1354	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	440							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						AGCCCAGCTTCTAGAAAATAT	0.438																																						dbGAP											0													58.0	49.0	52.0					17																	33880334		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.1319G>T	17.37:g.33880334C>A	ENSP00000391101:p.Arg440Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW9	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.R440I	ENST00000415846.3	37	c.1319	CCDS45650.1	17	.	.	.	.	.	.	.	.	.	.	C	16.85	3.235593	0.58886	.	.	ENSG00000236320	ENST00000415846	T	0.02631	4.22	4.9	2.9	0.33743	.	.	.	.	.	T	0.13415	0.0325	M	0.83384	2.64	0.36147	D	0.84721	D	0.76494	0.999	D	0.85130	0.997	T	0.02539	-1.1144	9	0.87932	D	0	-12.1931	7.6247	0.28206	0.0:0.8072:0.0:0.1928	.	440	P0C7P3	SLN14_HUMAN	I	440	ENSP00000391101:R440I	ENSP00000391101:R440I	R	-	2	0	SLFN14	30904447	0.998000	0.40836	0.996000	0.52242	0.758000	0.43043	1.005000	0.29834	0.762000	0.33152	0.655000	0.94253	AGA	SLFN14	-	NULL	ENSG00000236320		0.438	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	81	0.00	0	C	NM_001129820		33880334	33880334	-1	no_errors	ENST00000415846	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	0.994	A
SLFN5	162394	genome.wustl.edu	37	17	33588077	33588077	+	Missense_Mutation	SNP	C	C	T	rs200108679		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33588077C>T	ENST00000299977.4	+	3	1248	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L	SLFN5_ENST00000542451.1_Missense_Mutation_p.S367L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	367					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CATAAGAATTCGGAATGTCTG	0.438																																						dbGAP											0													157.0	149.0	152.0					17																	33588077		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1100C>T	17.37:g.33588077C>T	ENSP00000299977:p.Ser367Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S367L	ENST00000299977.4	37	c.1100	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.317867	0.01320	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.04654	4.79;3.58	3.25	2.15	0.27550	.	0.576516	0.12910	N	0.429056	T	0.00936	0.0031	N	0.00135	-2.02	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45264	-0.9273	10	0.02654	T	1	.	5.4538	0.16580	0.0:0.1356:0.0:0.8644	.	367;367	B4E128;Q08AF3	.;SLFN5_HUMAN	L	367	ENSP00000299977:S367L;ENSP00000440537:S367L	ENSP00000299977:S367L	S	+	2	0	SLFN5	30612190	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	0.487000	0.22356	0.444000	0.26612	-0.383000	0.06682	TCG	SLFN5	-	NULL	ENSG00000166750		0.438	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	222	0.00	0	C	NM_144975		33588077	33588077	+1	no_errors	ENST00000299977	ensembl	human	known	69_37n	missense	187	12.21	26	SNP	0.001	T
SLFN14	342618	genome.wustl.edu	37	17	33884272	33884272	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33884272T>G	ENST00000415846.3	-	1	845	c.810A>C	c.(808-810)gaA>gaC	p.E270D	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	270							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						AGTTTTCGATTTCTTTTTTTA	0.383																																						dbGAP											0													169.0	133.0	144.0					17																	33884272		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.810A>C	17.37:g.33884272T>G	ENSP00000391101:p.Glu270Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW9	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.E270D	ENST00000415846.3	37	c.810	CCDS45650.1	17	.	.	.	.	.	.	.	.	.	.	T	6.198	0.404695	0.11754	.	.	ENSG00000236320	ENST00000415846	T	0.62788	0.0	4.71	3.55	0.40652	.	.	.	.	.	T	0.47284	0.1437	L	0.39514	1.22	0.22017	N	0.999419	B	0.30281	0.275	B	0.29785	0.107	T	0.27571	-1.0070	9	0.13108	T	0.6	-15.8589	7.1627	0.25672	0.1989:0.0:0.0:0.8011	.	270	P0C7P3	SLN14_HUMAN	D	270	ENSP00000391101:E270D	ENSP00000391101:E270D	E	-	3	2	SLFN14	30908385	0.142000	0.22610	1.000000	0.80357	0.544000	0.35116	0.298000	0.19120	2.103000	0.63969	0.533000	0.62120	GAA	SLFN14	-	pfam_ATPase_AAA-4	ENSG00000236320		0.383	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	198	0.00	0	T	NM_001129820		33884272	33884272	-1	no_errors	ENST00000415846	ensembl	human	known	69_37n	missense	153	23.88	48	SNP	1.000	G
SLFNL1	200172	genome.wustl.edu	37	1	41483468	41483468	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:41483468C>T	ENST00000359345.1	-	2	3372	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	SLFNL1_ENST00000397197.2_Missense_Mutation_p.G266S|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G266S|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G266S|SLFNL1_ENST00000372611.1_Missense_Mutation_p.G207S|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G266S	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	266							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TGCACCAGGCCGCTGTCCTCT	0.662																																						dbGAP											0													53.0	50.0	51.0					1																	41483468		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.796G>A	1.37:g.41483468C>T	ENSP00000352299:p.Gly266Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.G266S	ENST00000359345.1	37	c.796	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520096	0.64747	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000022	T	0.62756	0.2454	M	0.83852	2.665	0.47094	D	0.999316	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.996	T	0.64875	-0.6304	10	0.46703	T	0.11	-52.4744	14.7245	0.69332	0.0:1.0:0.0:0.0	.	266;207;266	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	S	266;266;207;266;266;266	ENSP00000304401:G266S;ENSP00000361696:G266S;ENSP00000361694:G207S;ENSP00000352299:G266S;ENSP00000398938:G266S;ENSP00000380381:G266S	ENSP00000304401:G266S	G	-	1	0	SLFNL1	41256055	0.999000	0.42202	0.999000	0.59377	0.010000	0.07245	5.271000	0.65553	2.539000	0.85634	0.561000	0.74099	GGC	SLFNL1	-	pfam_ATPase_AAA-4	ENSG00000171790		0.662	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1	27	0.00	0	C	NM_144990		41483468	41483468	-1	no_errors	ENST00000302946	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	1.000	T
SLIT1	6585	genome.wustl.edu	37	10	98794278	98794278	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:98794278G>A	ENST00000266058.4	-	23	2633	c.2388C>T	c.(2386-2388)atC>atT	p.I796I	SLIT1_ENST00000371070.4_Silent_p.I796I|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	796					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTAAGGAACTGATCTTGTTGT	0.562																																						dbGAP											0													151.0	130.0	138.0					10																	98794278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2388C>T	10.37:g.98794278G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I796	ENST00000266058.4	37	c.2388	CCDS7453.1	10																																																																																			SLIT1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000187122		0.562	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	334	0.00	0	G	NM_003061		98794278	98794278	-1	no_errors	ENST00000266058	ensembl	human	known	69_37n	silent	233	28.66	94	SNP	1.000	A
SLIT2	9353	genome.wustl.edu	37	4	20521061	20521061	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:20521061T>G	ENST00000504154.1	+	12	1367	c.1115T>G	c.(1114-1116)tTt>tGt	p.F372C	SLIT2_ENST00000503837.1_Missense_Mutation_p.F376C|SLIT2_ENST00000273739.5_Missense_Mutation_p.F376C|SLIT2_ENST00000503823.1_Missense_Mutation_p.F372C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	372					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGGACTGTTTTCCTTACAG	0.323																																						dbGAP											0													64.0	65.0	64.0					4																	20521061		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1115T>G	4.37:g.20521061T>G	ENSP00000422591:p.Phe372Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.F372C	ENST00000504154.1	37	c.1115	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758430	0.69763	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.44	5.44	0.79542	.	0.047096	0.85682	D	0.000000	T	0.33644	0.0870	L	0.29908	0.895	0.80722	D	1	P;D	0.53745	0.926;0.962	P;P	0.56823	0.642;0.807	T	0.03453	-1.1035	10	0.39692	T	0.17	.	15.1614	0.72788	0.0:0.0:0.0:1.0	.	372;372	O94813-3;O94813	.;SLIT2_HUMAN	C	372;372;376;376;376	ENSP00000427548:F372C;ENSP00000422591:F372C;ENSP00000273739:F376C;ENSP00000422261:F376C	ENSP00000273739:F376C	F	+	2	0	SLIT2	20130159	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.486000	0.66856	2.058000	0.61347	0.477000	0.44152	TTT	SLIT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000145147		0.323	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	139	0.00	0	T			20521061	20521061	+1	no_errors	ENST00000504154	ensembl	human	known	69_37n	missense	74	10.84	9	SNP	1.000	G
SLIT3	6586	genome.wustl.edu	37	5	168201241	168201241	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:168201241G>T	ENST00000519560.1	-	13	1713	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I	SLIT3_ENST00000332966.8_Splice_Site_p.L432I|SLIT3_ENST00000404867.3_Splice_Site_p.L432I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	432					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTACTCACAGTGTCTGGATG	0.562																																					Ovarian(29;311 847 10864 17279 24903)	dbGAP											0													150.0	147.0	148.0					5																	168201241		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1295+1C>A	5.37:g.168201241G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L432I	ENST00000519560.1	37	c.1294	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.182038	0.94885	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.35789	1.29;1.29;1.29	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61974	0.2390	M	0.76727	2.345	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.988	P;P;D	0.68039	0.814;0.839;0.955	T	0.64782	-0.6326	10	0.72032	D	0.01	.	19.4314	0.94768	0.0:0.0:1.0:0.0	.	432;432;432	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	I	432	ENSP00000430333:L432I;ENSP00000332164:L432I;ENSP00000384890:L432I	ENSP00000332164:L432I	L	-	1	0	SLIT3	168133819	1.000000	0.71417	0.956000	0.39512	0.805000	0.45488	9.869000	0.99810	2.588000	0.87417	0.650000	0.86243	CTC	SLIT3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000184347		0.562	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	142	0.00	0	G	NM_003062	Missense_Mutation	168201241	168201241	-1	no_errors	ENST00000519560	ensembl	human	known	69_37n	missense	100	31.51	46	SNP	1.000	T
SLITRK2	84631	genome.wustl.edu	37	X	144905545	144905545	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:144905545C>A	ENST00000370490.1	+	1	5857	c.1602C>A	c.(1600-1602)acC>acA	p.T534T	SLITRK2_ENST00000434188.2_Silent_p.T534T|SLITRK2_ENST00000447897.2_Silent_p.T534T|SLITRK2_ENST00000413937.2_Silent_p.T534T|SLITRK2_ENST00000428560.2_Silent_p.T534T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	534	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGGACTGTACCTGTGACATCA	0.507																																						dbGAP											0													72.0	68.0	69.0					X																	144905545		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1602C>A	X.37:g.144905545C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T534	ENST00000370490.1	37	c.1602	CCDS14680.1	X																																																																																			SLITRK2	-	smart_Cys-rich_flank_reg_C	ENSG00000185985		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	75	0.00	0	C	NM_032539		144905545	144905545	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	silent	41	18.00	9	SNP	1.000	A
SLITRK2	84631	genome.wustl.edu	37	X	144906449	144906449	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:144906449C>A	ENST00000370490.1	+	1	6761	c.2506C>A	c.(2506-2508)Ctg>Atg	p.L836M	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L836M|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L836M|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L836M|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L836M			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	836					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGAAGTTCTGGAAAAACA	0.458																																						dbGAP											0													59.0	54.0	56.0					X																	144906449		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2506C>A	X.37:g.144906449C>A	ENSP00000359521:p.Leu836Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L836M	ENST00000370490.1	37	c.2506	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901399	0.72754	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000004	D	0.82527	0.5056	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84592	0.0667	10	0.87932	D	0	-4.179	15.4932	0.75629	0.0:1.0:0.0:0.0	.	836	Q9H156	SLIK2_HUMAN	M	836	ENSP00000411681:L836M;ENSP00000359521:L836M;ENSP00000397015:L836M;ENSP00000407347:L836M;ENSP00000412010:L836M	ENSP00000359521:L836M	L	+	1	2	SLITRK2	144714141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.083000	0.71326	2.251000	0.74343	0.600000	0.82982	CTG	SLITRK2	-	NULL	ENSG00000185985		0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	48	0.00	0	C	NM_032539		144906449	144906449	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	A
SLITRK3	22865	genome.wustl.edu	37	3	164905717	164905717	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:164905717C>T	ENST00000475390.1	-	2	3345	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E968K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	968					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E968*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)																												dbGAP											1	Substitution - Nonsense(1)	ovary(1)											135.0	134.0	134.0					3																	164905717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2902G>A	3.37:g.164905717C>T	ENSP00000420091:p.Glu968Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E968K	ENST00000475390.1	37	c.2902	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708598	0.68615	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.65916	-0.18;-0.18	5.97	5.97	0.96955	.	0.000000	0.35708	N	0.003029	T	0.76248	0.3961	L	0.49778	1.585	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	T	0.76313	-0.3005	10	0.87932	D	0	-13.5308	20.4388	0.99107	0.0:1.0:0.0:0.0	.	968	O94933	SLIK3_HUMAN	K	968	ENSP00000420091:E968K;ENSP00000241274:E968K	ENSP00000241274:E968K	E	-	1	0	SLITRK3	166388411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.836000	0.97738	0.655000	0.94253	GAA	SLITRK3	-	NULL	ENSG00000121871		0.388	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	217	0.00	0	C	NM_014926		164905717	164905717	-1	no_errors	ENST00000241274	ensembl	human	known	69_37n	missense	199	24.91	66	SNP	1.000	T
SLITRK3	22865	genome.wustl.edu	37	3	164906572	164906572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:164906572G>A	ENST00000475390.1	-	2	2490	c.2047C>T	c.(2047-2049)Cga>Tga	p.R683*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R683*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	683					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGCTTCTTTCGACGCCTTCGG	0.537										HNSCC(40;0.11)																												dbGAP											0													75.0	63.0	67.0					3																	164906572		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2047C>T	3.37:g.164906572G>A	ENSP00000420091:p.Arg683*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1RMY6	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R683*	ENST00000475390.1	37	c.2047	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.240898	0.98722	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.0	-0.818	0.10833	.	0.000000	0.34484	N	0.003921	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-11.9721	13.8791	0.63672	0.0:0.0:0.3573:0.6427	.	.	.	.	X	683	.	ENSP00000241274:R683X	R	-	1	2	SLITRK3	166389266	0.381000	0.25140	0.157000	0.22605	0.616000	0.37450	0.890000	0.28295	0.021000	0.15133	0.655000	0.94253	CGA	SLITRK3	-	NULL	ENSG00000121871		0.537	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	150	0.00	0	G	NM_014926		164906572	164906572	-1	no_errors	ENST00000241274	ensembl	human	known	69_37n	nonsense	159	10.17	18	SNP	0.442	A
SLITRK3	22865	genome.wustl.edu	37	3	164907988	164907988	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:164907988G>T	ENST00000475390.1	-	2	1074	c.631C>A	c.(631-633)Ctt>Att	p.L211I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L211I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	211					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGGTAAAAAAGAACCTTTAAC	0.398										HNSCC(40;0.11)																												dbGAP											0													65.0	68.0	67.0					3																	164907988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.631C>A	3.37:g.164907988G>T	ENSP00000420091:p.Leu211Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L211I	ENST00000475390.1	37	c.631	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473020	0.63737	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52057	0.68;0.68	5.86	5.86	0.93980	.	0.000000	0.33772	N	0.004575	T	0.67674	0.2918	M	0.62723	1.935	0.46078	D	0.998853	D	0.69078	0.997	D	0.79108	0.992	T	0.61787	-0.6991	10	0.34782	T	0.22	-16.4299	20.1755	0.98177	0.0:0.0:1.0:0.0	.	211	O94933	SLIK3_HUMAN	I	211	ENSP00000420091:L211I;ENSP00000241274:L211I	ENSP00000241274:L211I	L	-	1	0	SLITRK3	166390682	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.655000	0.83696	2.779000	0.95612	0.561000	0.74099	CTT	SLITRK3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000121871		0.398	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	213	0.00	0	G	NM_014926		164907988	164907988	-1	no_errors	ENST00000241274	ensembl	human	known	69_37n	missense	204	26.09	72	SNP	1.000	T
SLITRK3	22865	genome.wustl.edu	37	3	164908277	164908277	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:164908277C>A	ENST00000475390.1	-	2	785	c.342G>T	c.(340-342)caG>caT	p.Q114H	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q114H			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	114					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCTGAATGTCCTGCAATGCAT	0.348										HNSCC(40;0.11)																												dbGAP											0													49.0	49.0	49.0					3																	164908277		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.342G>T	3.37:g.164908277C>A	ENSP00000420091:p.Gln114His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q114H	ENST00000475390.1	37	c.342	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446647	0.25987	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.58060	0.36;0.36;0.36	5.99	5.11	0.69529	.	0.000000	0.35870	N	0.002921	T	0.68668	0.3026	M	0.71036	2.16	0.41722	D	0.98951	D	0.61697	0.99	D	0.72982	0.979	T	0.69716	-0.5070	10	0.42905	T	0.14	-17.1508	11.4385	0.50083	0.0:0.8053:0.1273:0.0673	.	114	O94933	SLIK3_HUMAN	H	114	ENSP00000420091:Q114H;ENSP00000241274:Q114H;ENSP00000419611:Q114H	ENSP00000241274:Q114H	Q	-	3	2	SLITRK3	166390971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.125000	0.50469	1.523000	0.49018	0.655000	0.94253	CAG	SLITRK3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000121871		0.348	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	77	0.00	0	C	NM_014926		164908277	164908277	-1	no_errors	ENST00000241274	ensembl	human	known	69_37n	missense	66	29.03	27	SNP	1.000	A
SLITRK4	139065	genome.wustl.edu	37	X	142716965	142716965	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:142716965C>T	ENST00000381779.4	-	2	2185	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E654K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E654K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	654						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGCCTTCGTGCTTCACT	0.448																																						dbGAP											0													113.0	115.0	114.0					X																	142716965		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1960G>A	X.37:g.142716965C>T	ENSP00000371198:p.Glu654Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E654K	ENST00000381779.4	37	c.1960	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105456	0.56291	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52754	0.65;0.65;0.65	5.36	5.36	0.76844	.	0.000000	0.85682	U	0.000000	T	0.32793	0.0841	L	0.34521	1.04	0.80722	D	1	B	0.31893	0.345	B	0.21360	0.034	T	0.17471	-1.0368	10	0.07325	T	0.83	-10.0643	16.5642	0.84574	0.0:1.0:0.0:0.0	.	654	Q8IW52	SLIK4_HUMAN	K	654	ENSP00000371198:E654K;ENSP00000349400:E654K;ENSP00000336627:E654K	ENSP00000336627:E654K	E	-	1	0	SLITRK4	142544631	0.999000	0.42202	0.847000	0.33407	0.941000	0.58515	4.074000	0.57577	2.224000	0.72417	0.513000	0.50165	GAA	SLITRK4	-	NULL	ENSG00000179542		0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	102	0.00	0	C	NM_173078		142716965	142716965	-1	no_errors	ENST00000338017	ensembl	human	known	69_37n	missense	58	30.95	26	SNP	0.999	T
SLITRK4	139065	genome.wustl.edu	37	X	142718210	142718210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:142718210C>A	ENST00000381779.4	-	2	940	c.715G>T	c.(715-717)Gaa>Taa	p.E239*	SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.E239*|SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.E239*	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	239	LRRCT 1.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATAGCTTCTCCTATGTAA	0.418																																						dbGAP											0													77.0	70.0	72.0					X																	142718210		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.715G>T	X.37:g.142718210C>A	ENSP00000371198:p.Glu239*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXG3|Q8TCM8|Q96DL3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E239*	ENST00000381779.4	37	c.715	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.130460	0.97310	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	.	.	.	5.73	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-10.8958	12.6243	0.56620	0.0:0.9182:0.0:0.0817	.	.	.	.	X	239	.	ENSP00000336627:E239X	E	-	1	0	SLITRK4	142545876	1.000000	0.71417	0.825000	0.32803	0.974000	0.67602	7.818000	0.86416	1.193000	0.43086	0.600000	0.82982	GAA	SLITRK4	-	smart_Cys-rich_flank_reg_C	ENSG00000179542		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	91	0.00	0	C	NM_173078		142718210	142718210	-1	no_errors	ENST00000338017	ensembl	human	known	69_37n	nonsense	55	16.67	11	SNP	0.998	A
SLITRK6	84189	genome.wustl.edu	37	13	86370031	86370031	+	Missense_Mutation	SNP	C	C	T	rs537634510		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:86370031C>T	ENST00000400286.2	-	2	1211	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	205					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCAATGTGTTCGAGAAAACCA	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20510	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													105.0	94.0	98.0					13																	86370031		1874	4099	5973	-	-	-	SO:0001583	missense	0			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.613G>A	13.37:g.86370031C>T	ENSP00000383143:p.Glu205Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E205K	ENST00000400286.2	37	c.613	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691598	0.88735	.	.	ENSG00000184564	ENST00000400286	T	0.51325	0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70092	-0.4967	10	0.54805	T	0.06	-21.5544	18.9858	0.92769	0.0:1.0:0.0:0.0	.	205	Q9H5Y7	SLIK6_HUMAN	K	205	ENSP00000383143:E205K	ENSP00000383143:E205K	E	-	1	0	SLITRK6	85268032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAA	SLITRK6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184564		0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	89	0.00	0	C	NM_032229		86370031	86370031	-1	no_errors	ENST00000400286	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	T
SLITRK5	26050	genome.wustl.edu	37	13	88329425	88329425	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:88329425G>A	ENST00000325089.6	+	2	2001	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	SLITRK5_ENST00000400028.3_Silent_p.A353A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	594	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.A594A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTGTAAGGCGCCCAAAAAAT	0.527																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											163.0	147.0	153.0					13																	88329425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1782G>A	13.37:g.88329425G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A594	ENST00000325089.6	37	c.1782	CCDS9465.1	13																																																																																			SLITRK5	-	smart_Cys-rich_flank_reg_C	ENSG00000165300		0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	74	0.00	0	G			88329425	88329425	+1	no_errors	ENST00000325089	ensembl	human	known	69_37n	silent	37	32.73	18	SNP	0.998	A
SLK	9748	genome.wustl.edu	37	10	105762038	105762038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:105762038G>T	ENST00000369755.3	+	9	1647	c.1102G>T	c.(1102-1104)Gaa>Taa	p.E368*	SLK_ENST00000335753.4_Nonsense_Mutation_p.E368*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	368	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAAAAAACAGAACGTAGTAA	0.373																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											0													85.0	93.0	90.0					10																	105762038		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1102G>T	10.37:g.105762038G>T	ENSP00000358770:p.Glu368*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Nonsense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom	p.E368*	ENST00000369755.3	37	c.1102	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	41	9.024797	0.99040	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	.	.	.	5.49	5.49	0.81192	.	0.260578	0.37715	N	0.001980	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.3871	0.94563	0.0:0.0:1.0:0.0	.	.	.	.	X	368	.	ENSP00000336824:E368X	E	+	1	0	SLK	105752028	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.509000	0.81698	2.581000	0.87130	0.455000	0.32223	GAA	SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.373	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	46	0.00	0	G	NM_014720		105762038	105762038	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	nonsense	38	13.64	6	SNP	1.000	T
SLK	9748	genome.wustl.edu	37	10	105762671	105762671	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:105762671G>A	ENST00000369755.3	+	9	2280	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	SLK_ENST00000335753.4_Missense_Mutation_p.E579K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	579	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGAAGTGGTCGAAGTAGGCCA	0.423																																					NSCLC(111;540 1651 1927 4474 17706)	dbGAP											0													54.0	57.0	56.0					10																	105762671		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1735G>A	10.37:g.105762671G>A	ENSP00000358770:p.Glu579Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_cat_dom	p.E579K	ENST00000369755.3	37	c.1735	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907209	0.17833	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.71817	-0.58;-0.6	5.88	5.88	0.94601	Protein kinase-like domain (1);	0.404790	0.29348	N	0.012406	T	0.57577	0.2063	L	0.32530	0.975	0.20196	N	0.99993	B;B	0.22346	0.068;0.016	B;B	0.10450	0.005;0.002	T	0.38824	-0.9643	10	0.14656	T	0.56	.	13.4349	0.61077	0.0713:0.0:0.9287:0.0	.	579;579	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	579	ENSP00000336824:E579K;ENSP00000358770:E579K	ENSP00000336824:E579K	E	+	1	0	SLK	105752661	0.898000	0.30612	0.272000	0.24630	0.389000	0.30415	4.716000	0.61916	2.788000	0.95919	0.555000	0.69702	GAA	SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.423	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	63	0.00	0	G	NM_014720		105762671	105762671	+1	no_errors	ENST00000369755	ensembl	human	known	69_37n	missense	73	30.48	32	SNP	0.434	A
SULT1A4	445329	genome.wustl.edu	37	16	29469306	29469306	+	5'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:29469306G>T	ENST00000395400.3	+	0	1359				SULT1A4_ENST00000360423.7_5'Flank|SLX1B_ENST00000330181.5_Missense_Mutation_p.E256D|SLX1B_ENST00000351581.4_Missense_Mutation_p.E142D|SULT1A4_ENST00000344620.6_5'UTR|SNX29P2_ENST00000398878.3_lincRNA|SLX1B-SULT1A4_ENST00000564950.1_RNA			P0DMN0	ST1A4_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4						catecholamine metabolic process (GO:0006584)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	aryl sulfotransferase activity (GO:0004062)										TGGACACTGAGAAAGAAGTAG	0.562																																						dbGAP											0													19.0	16.0	17.0					16																	29469306		2117	3861	5978	-	-	-	SO:0001623	5_prime_UTR_variant	0			L34160	CCDS32427.1	16p11.2	2013-05-10			ENSG00000213648	ENSG00000213648	2.8.2.1	"""Sulfotransferases, cytosolic"""	30004	protein-coding gene	gene with protein product		615819				15358107, 15752422	Standard	NM_001017390		Approved		uc002dxk.3	P0DMN0	OTTHUMG00000170468	ENST00000395400.3:c.-35G>T	16.37:g.29469306G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNV0|O95603|P50224|Q1ET66|Q6ZWJ5	Missense_Mutation	SNP	pfam_UvrC_N,superfamily_UvrC_N	p.E256D	ENST00000395400.3	37	c.768	CCDS32427.1	16	.	.	.	.	.	.	.	.	.	.	.	12.75	2.032078	0.35893	.	.	ENSG00000181625	ENST00000330181;ENST00000351581	.	.	.	2.45	2.45	0.29901	.	0.467778	0.19342	U	0.116621	T	0.29028	0.0721	L	0.41824	1.3	0.26699	N	0.971196	B;B	0.20988	0.05;0.031	B;B	0.14578	0.011;0.01	T	0.11717	-1.0576	9	0.23891	T	0.37	-4.424	7.7605	0.28948	0.0:0.2628:0.7372:0.0	.	142;256	Q9BQ83-2;Q9BQ83	.;SLX1_HUMAN	D	256;142	.	ENSP00000328940:E256D	E	+	3	2	SLX1B	29376807	0.985000	0.35326	0.021000	0.16686	0.646000	0.38490	1.188000	0.32102	1.323000	0.45263	0.384000	0.25694	GAG	SLX1B	-	NULL	ENSG00000181625		0.562	SULT1A4-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLX1B	HGNC	protein_coding		104	0.00	0	G	NM_001017389		29469306	29469306	+1	no_errors	ENST00000330181	ensembl	human	known	69_37n	missense	60	11.76	8	SNP	0.248	T
SMAD2	4087	genome.wustl.edu	37	18	45422969	45422969	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:45422969C>A	ENST00000402690.2	-	2	553	c.159G>T	c.(157-159)aaG>aaT	p.K53N	SMAD2_ENST00000586040.1_Missense_Mutation_p.K53N|SMAD2_ENST00000591214.1_Missense_Mutation_p.K53N|SMAD2_ENST00000356825.4_Missense_Mutation_p.K53N|SMAD2_ENST00000262160.6_Missense_Mutation_p.K53N	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	53	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GTCCTGTTTTCTTTAGCTTCT	0.453																																						dbGAP											0													290.0	267.0	275.0					18																	45422969		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.159G>T	18.37:g.45422969C>A	ENSP00000384449:p.Lys53Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.K53N	ENST00000402690.2	37	c.159	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926080	0.92319	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.81996	-1.56;-1.56;-1.56	5.36	5.36	0.76844	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92866	0.6310	10	0.66056	D	0.02	.	19.4542	0.94880	0.0:1.0:0.0:0.0	.	53;53;53	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	N	53	ENSP00000262160:K53N;ENSP00000349282:K53N;ENSP00000384449:K53N	ENSP00000262160:K53N	K	-	3	2	SMAD2	43676967	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.062000	0.57492	2.671000	0.90904	0.555000	0.69702	AAG	SMAD2	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000175387		0.453	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	812	0.00	0	C	NM_005901		45422969	45422969	-1	no_errors	ENST00000262160	ensembl	human	known	69_37n	missense	724	10.16	82	SNP	1.000	A
SMAP1	60682	genome.wustl.edu	37	6	71483102	71483102	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:71483102G>A	ENST00000370455.3	+	4	636	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SMAP1_ENST00000422334.2_3'UTR|SMAP1_ENST00000316999.5_Missense_Mutation_p.D130N|SMAP1_ENST00000370452.3_Missense_Mutation_p.D130N	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	130	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GAAATACTACGATAAAAATGC	0.294																																						dbGAP											0													64.0	62.0	63.0					6																	71483102		2190	4286	6476	-	-	-	SO:0001583	missense	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.388G>A	6.37:g.71483102G>A	ENSP00000359484:p.Asp130Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP	p.D130N	ENST00000370455.3	37	c.388	CCDS43478.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.343220|4.343220	0.82022|0.82022	.|.	.|.	ENSG00000112305|ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442;ENST00000445046|ENST00000439432	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.099104|.	0.64402|.	D|.	0.000001|.	T|T	0.60261|0.60261	0.2255|0.2255	L|L	0.43757|0.43757	1.38|1.38	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.89917|.	0.943;1.0;1.0;0.513|.	P;D;D;B|.	0.91635|.	0.516;0.999;0.998;0.431|.	T|T	0.54370|0.54370	-0.8304|-0.8304	10|5	0.16896|.	T|.	0.51|.	6.5585|6.5585	18.9184|18.9184	0.92515|0.92515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130;130;130|.	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5|.	.;.;.;SMAP1_HUMAN|.	N|Q	130;130;130;42;27|4	ENSP00000359481:D130N;ENSP00000313382:D130N;ENSP00000359484:D130N|.	ENSP00000313382:D130N|.	D|R	+|+	1|2	0|0	SMAP1|SMAP1	71539823|71539823	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.658000|5.658000	0.68003|0.68003	2.834000|2.834000	0.97654|0.97654	0.655000|0.655000	0.94253|0.94253	GAT|CGA	SMAP1	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000112305		0.294	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	242	0.00	0	G	NM_001044305		71483102	71483102	+1	no_errors	ENST00000370455	ensembl	human	known	69_37n	missense	133	28.11	52	SNP	1.000	A
SMARCA2	6595	genome.wustl.edu	37	9	2110343	2110343	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:2110343G>A	ENST00000382203.1	+	24	3591	c.3382G>A	c.(3382-3384)Gct>Act	p.A1128T	SMARCA2_ENST00000349721.2_Missense_Mutation_p.A1128T|SMARCA2_ENST00000382194.1_Missense_Mutation_p.A1128T|SMARCA2_ENST00000357248.2_Missense_Mutation_p.A1128T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1128	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAGCACAAGAGCTGGTGGCCT	0.502																																						dbGAP											0													87.0	80.0	83.0					9																	2110343		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3382G>A	9.37:g.2110343G>A	ENSP00000371638:p.Ala1128Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.A1128T	ENST00000382203.1	37	c.3382	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006017	0.93287	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.55	5.55	0.83447	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.83275	0.994;0.993;0.996	D	0.92621	0.6108	10	0.87932	D	0	-9.2456	19.861	0.96785	0.0:0.0:1.0:0.0	.	729;1128;1128	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	T	1128	ENSP00000265773:A1128T;ENSP00000349788:A1128T;ENSP00000371638:A1128T;ENSP00000371629:A1128T	ENSP00000265773:A1128T	A	+	1	0	SMARCA2	2100343	1.000000	0.71417	0.705000	0.30386	0.642000	0.38348	9.811000	0.99226	2.767000	0.95098	0.655000	0.94253	GCT	SMARCA2	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000080503		0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	145	0.00	0	G	NM_003070		2110343	2110343	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	missense	117	18.18	26	SNP	1.000	A
SMARCA5	8467	genome.wustl.edu	37	4	144446671	144446671	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:144446671G>A	ENST00000283131.3	+	5	1050	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	196	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CTTTGTATGAGAATGGCATCA	0.333																																						dbGAP											0													228.0	228.0	228.0					4																	144446671		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.588G>A	4.37:g.144446671G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E196	ENST00000283131.3	37	c.588	CCDS3761.1	4																																																																																			SMARCA5	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000153147		0.333	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	708	0.00	0	G			144446671	144446671	+1	no_errors	ENST00000283131	ensembl	human	known	69_37n	silent	423	16.57	84	SNP	1.000	A
SMARCA5	8467	genome.wustl.edu	37	4	144465058	144465058	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:144465058A>C	ENST00000283131.3	+	16	2567	c.2105A>C	c.(2104-2106)aAc>aCc	p.N702T		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	702					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TCACTTAGAAACTTTACAATG	0.353																																						dbGAP											0													92.0	97.0	95.0					4																	144465058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2105A>C	4.37:g.144465058A>C	ENSP00000283131:p.Asn702Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N702T	ENST00000283131.3	37	c.2105	CCDS3761.1	4	.	.	.	.	.	.	.	.	.	.	A	15.31	2.794829	0.50102	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91124	-2.79	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87865	0.6285	L	0.53561	1.675	0.58432	D	0.999998	B	0.16802	0.019	B	0.18561	0.022	D	0.84800	0.0784	10	0.49607	T	0.09	0.0583	12.1974	0.54305	0.858:0.142:0.0:0.0	.	702	O60264	SMCA5_HUMAN	T	702;645;645	ENSP00000283131:N702T	ENSP00000283131:N702T	N	+	2	0	SMARCA5	144684508	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.211000	0.77933	1.957000	0.56846	0.482000	0.46254	AAC	SMARCA5	-	NULL	ENSG00000153147		0.353	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3	285	0.35	1	A			144465058	144465058	+1	no_errors	ENST00000283131	ensembl	human	known	69_37n	missense	166	23.50	51	SNP	1.000	C
SMARCAL1	50485	genome.wustl.edu	37	2	217293398	217293398	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:217293398C>A	ENST00000357276.4	+	7	1557	c.1227C>A	c.(1225-1227)ctC>ctA	p.L409L	SMARCAL1_ENST00000479008.1_3'UTR|SMARCAL1_ENST00000358207.5_Silent_p.L409L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	409					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTTCTCAGCTCAAGAAGACAT	0.537									Schimke Immuno-Osseous Dysplasia																													dbGAP											0													140.0	128.0	132.0					2																	217293398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1227C>A	2.37:g.217293398C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L409	ENST00000357276.4	37	c.1227	CCDS2403.1	2																																																																																			SMARCAL1	-	NULL	ENSG00000138375		0.537	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	244	0.00	0	C			217293398	217293398	+1	no_errors	ENST00000357276	ensembl	human	known	69_37n	silent	161	10.06	18	SNP	0.229	A
SMC4	10051	genome.wustl.edu	37	3	160138650	160138650	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:160138650A>C	ENST00000357388.3	+	13	2431	c.1980A>C	c.(1978-1980)agA>agC	p.R660S	SMC4_ENST00000462787.1_Missense_Mutation_p.R660S|SMC4_ENST00000469762.1_Missense_Mutation_p.R635S|SMC4_ENST00000344722.5_Missense_Mutation_p.R660S|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.R660S	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	660	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCCTTAAAAGACAAAATATTG	0.343																																						dbGAP											0													94.0	88.0	90.0					3																	160138650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1980A>C	3.37:g.160138650A>C	ENSP00000349961:p.Arg660Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.R660S	ENST00000357388.3	37	c.1980	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619886	0.46736	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.43	2.88	0.33553	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.269566	0.42294	N	0.000724	T	0.77294	0.4109	L	0.47016	1.485	0.24408	N	0.994677	B;B;B;B	0.24675	0.089;0.006;0.0;0.109	B;B;B;B	0.27380	0.075;0.07;0.003;0.079	T	0.64601	-0.6369	10	0.38643	T	0.18	-16.5126	4.7173	0.12901	0.6241:0.0:0.1374:0.2386	.	660;635;635;660	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	S	660;660;635;660;660;254	ENSP00000349961:R660S;ENSP00000353225:R660S;ENSP00000417964:R635S;ENSP00000420734:R660S;ENSP00000341382:R660S	ENSP00000341382:R660S	R	+	3	2	SMC4	161621344	0.835000	0.29415	0.983000	0.44433	0.997000	0.91878	0.100000	0.15231	0.286000	0.22352	0.445000	0.29226	AGA	SMC4	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000113810		0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	252	0.00	0	A			160138650	160138650	+1	no_errors	ENST00000344722	ensembl	human	known	69_37n	missense	220	14.40	37	SNP	0.989	C
SMC5	23137	genome.wustl.edu	37	9	72965054	72965054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:72965054C>T	ENST00000361138.5	+	23	2972	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	972					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ATATGGAATTCGAATTAGAGT	0.299																																						dbGAP											0													53.0	52.0	52.0					9																	72965054		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2914C>T	9.37:g.72965054C>T	ENSP00000354957:p.Arg972*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC	p.R972*	ENST00000361138.5	37	c.2914	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	C	41	8.636667	0.98895	.	.	ENSG00000198887	ENST00000361138	.	.	.	6.07	4.15	0.48705	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-12.0821	15.51	0.75772	0.2635:0.7365:0.0:0.0	.	.	.	.	X	972	.	ENSP00000354957:R972X	R	+	1	2	SMC5	72154874	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.720000	0.54933	1.542000	0.49330	0.585000	0.79938	CGA	SMC5	-	pfam_RecF/RecN/SMC	ENSG00000198887		0.299	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	138	0.00	0	C	NM_015110		72965054	72965054	+1	no_errors	ENST00000361138	ensembl	human	known	69_37n	nonsense	102	18.40	23	SNP	1.000	T
SMC6	79677	genome.wustl.edu	37	2	17877631	17877631	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:17877631T>G	ENST00000448223.2	-	22	2726	c.2457A>C	c.(2455-2457)gaA>gaC	p.E819D	SMC6_ENST00000402989.1_Missense_Mutation_p.E819D|SMC6_ENST00000351948.4_Missense_Mutation_p.E819D|SMC6_ENST00000381272.4_Missense_Mutation_p.E845D	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	819					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGTTTTTCTTCATAATGTC	0.308																																						dbGAP											0													156.0	147.0	150.0					2																	17877631		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2457A>C	2.37:g.17877631T>G	ENSP00000404092:p.Glu819Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.E845D	ENST00000448223.2	37	c.2535	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.537947	0.45176	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.27	-0.124	0.13523	RecF/RecN/SMC (1);	0.213637	0.47455	D	0.000226	T	0.10723	0.0262	L	0.50333	1.59	0.37234	D	0.905814	B;B	0.28636	0.096;0.218	B;B	0.35278	0.118;0.199	T	0.13899	-1.0492	10	0.28530	T	0.3	.	2.0155	0.03497	0.1189:0.2191:0.1224:0.5396	.	845;819	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	D	819;819;845;819	ENSP00000404092:E819D;ENSP00000323439:E819D;ENSP00000370672:E845D;ENSP00000384539:E819D	ENSP00000323439:E819D	E	-	3	2	SMC6	17741112	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.480000	0.22244	0.386000	0.24997	0.482000	0.46254	GAA	SMC6	-	NULL	ENSG00000163029		0.308	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	1374	0.07	1	T	NM_024624		17877631	17877631	-1	no_errors	ENST00000381272	ensembl	human	known	69_37n	missense	712	26.16	253	SNP	0.994	G
SMC6	79677	genome.wustl.edu	37	2	17906559	17906559	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:17906559C>A	ENST00000448223.2	-	9	960	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	SMC6_ENST00000402989.1_Nonsense_Mutation_p.E231*|SMC6_ENST00000351948.4_Nonsense_Mutation_p.E231*|SMC6_ENST00000381272.4_Nonsense_Mutation_p.E257*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	231					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTGTTCTTTCTTTCGTTTCC	0.308																																						dbGAP											0													161.0	131.0	141.0					2																	17906559		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.691G>T	2.37:g.17906559C>A	ENSP00000404092:p.Glu231*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Nonsense_Mutation	SNP	NULL	p.E257*	ENST00000448223.2	37	c.769	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.938412	0.97948	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	.	.	.	5.74	4.86	0.63082	.	0.553686	0.20893	N	0.083790	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	8.5578	0.33492	0.2555:0.673:0.0:0.0715	.	.	.	.	X	231;231;257;231;257	.	ENSP00000323439:E231X	E	-	1	0	SMC6	17770040	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.226000	0.32563	1.576000	0.49790	-0.157000	0.13467	GAA	SMC6	-	NULL	ENSG00000163029		0.308	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	446	0.00	0	C	NM_024624		17906559	17906559	-1	no_errors	ENST00000381272	ensembl	human	known	69_37n	nonsense	317	14.78	55	SNP	1.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2705741	2705741	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:2705741T>G	ENST00000320876.6	+	14	2230	c.1892T>G	c.(1891-1893)tTt>tGt	p.F631C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.F631C|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	631					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ATAGTAAGATTTTTTCTTTAT	0.323																																						dbGAP											0													83.0	79.0	80.0					18																	2705741		1837	4077	5914	-	-	-	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1892T>G	18.37:g.2705741T>G	ENSP00000326603:p.Phe631Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.F631C	ENST00000320876.6	37	c.1892	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510891	0.44660	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.37752	1.18;1.2	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	L	0.59436	1.845	0.48236	D	0.999614	D	0.89917	1.0	D	0.83275	0.996	T	0.60357	-0.7279	10	0.87932	D	0	-18.9757	16.2612	0.82547	0.0:0.0:0.0:1.0	.	631	A6NHR9	SMHD1_HUMAN	C	631	ENSP00000326603:F631C;ENSP00000261598:F631C	ENSP00000261598:F631C	F	+	2	0	SMCHD1	2695741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.041000	0.76558	2.244000	0.73946	0.477000	0.44152	TTT	SMCHD1	-	NULL	ENSG00000101596		0.323	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	216	0.00	0	T			2705741	2705741	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	108	13.60	17	SNP	1.000	G
SMCHD1	23347	genome.wustl.edu	37	18	2750448	2750448	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:2750448C>T	ENST00000320876.6	+	32	4446	c.4108C>T	c.(4108-4110)Cgt>Tgt	p.R1370C	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1370C|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1370					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAACCCGTTCGTCTCAATGT	0.348																																						dbGAP											0													47.0	44.0	45.0					18																	2750448		1819	4084	5903	-	-	-	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4108C>T	18.37:g.2750448C>T	ENSP00000326603:p.Arg1370Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.R1370C	ENST00000320876.6	37	c.4108	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547751	0.45383	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24350	1.86;1.87	5.85	4.99	0.66335	.	0.536340	0.19282	N	0.118125	T	0.23094	0.0558	L	0.57536	1.79	0.43054	D	0.994666	B	0.23490	0.086	B	0.15484	0.013	T	0.09751	-1.0660	10	0.46703	T	0.11	-7.6625	5.8358	0.18607	0.1563:0.6867:0.0:0.157	.	1370	A6NHR9	SMHD1_HUMAN	C	1370	ENSP00000326603:R1370C;ENSP00000261598:R1370C	ENSP00000261598:R1370C	R	+	1	0	SMCHD1	2740448	0.968000	0.33430	0.999000	0.59377	0.963000	0.63663	1.275000	0.33144	1.486000	0.48398	0.655000	0.94253	CGT	SMCHD1	-	NULL	ENSG00000101596		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	299	0.00	0	C			2750448	2750448	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	missense	197	10.41	23	SNP	0.972	T
SMCHD1	23347	genome.wustl.edu	37	18	2784502	2784502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:2784502C>T	ENST00000320876.6	+	45	5940	c.5602C>T	c.(5602-5604)Cga>Tga	p.R1868*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.R1868*|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1868					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.R1868*(2)|p.R1316*(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGATCGAATTCGAAGTAATGG	0.398																																						dbGAP											3	Substitution - Nonsense(3)	large_intestine(3)											47.0	45.0	46.0					18																	2784502		1818	4077	5895	-	-	-	SO:0001587	stop_gained	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5602C>T	18.37:g.2784502C>T	ENSP00000326603:p.Arg1868*	Somatic		WXS	Illumina GAIIx	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.R1868*	ENST00000320876.6	37	c.5602	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	47	13.206972	0.99727	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.29	3.37	0.38596	.	0.062950	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.969	13.9592	0.64168	0.284:0.716:0.0:0.0	.	.	.	.	X	1868	.	ENSP00000261598:R1868X	R	+	1	2	SMCHD1	2774502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.898000	0.39809	1.148000	0.42385	0.591000	0.81541	CGA	SMCHD1	-	superfamily_SMC_hinge	ENSG00000101596		0.398	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	157	0.00	0	C			2784502	2784502	+1	no_errors	ENST00000320876	ensembl	human	known	69_37n	nonsense	111	11.81	15	SNP	1.000	T
MIEF1	54471	genome.wustl.edu	37	22	39910015	39910015	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:39910015G>A	ENST00000325301.2	+	6	1503	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	MIEF1_ENST00000404569.1_Missense_Mutation_p.R360Q|MIEF1_ENST00000402881.1_Missense_Mutation_p.R360Q	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	360					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TCGGGCTGCCGATCTCTGTGC	0.647											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													59.0	53.0	55.0					22																	39910015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1079G>A	22.37:g.39910015G>A	ENSP00000327124:p.Arg360Gln	Somatic	889	WXS	Illumina GAIIx	Phase_IV	Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.R360Q	ENST00000325301.2	37	c.1079	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846455	0.91277	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.09073	3.02;3.02;3.02	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	M	0.79123	2.44	0.80722	D	1	P;D	0.89917	0.809;1.0	B;D	0.87578	0.145;0.998	T	0.00749	-1.1582	10	0.62326	D	0.03	-12.1879	20.6439	0.99570	0.0:0.0:1.0:0.0	.	360;360	Q9NQG6;B0QY95	MID51_HUMAN;.	Q	360	ENSP00000385110:R360Q;ENSP00000327124:R360Q;ENSP00000385191:R360Q	ENSP00000327124:R360Q	R	+	2	0	SMCR7L	38239961	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	9.849000	0.99510	2.884000	0.98904	0.655000	0.94253	CGA	SMCR7L	-	NULL	ENSG00000100335		0.647	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR7L	HGNC	protein_coding	OTTHUMT00000321325.1	26	0.00	0	G	NM_019008		39910015	39910015	+1	no_errors	ENST00000325301	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	A
SMG1	23049	genome.wustl.edu	37	16	18847333	18847333	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:18847333C>T	ENST00000446231.2	-	48	8391	c.7979G>A	c.(7978-7980)cGa>cAa	p.R2660Q	SMG1_ENST00000389467.3_Missense_Mutation_p.R2660Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2660					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGTTCAATTCGATGTTTCTG	0.493																																						dbGAP											0													63.0	58.0	60.0					16																	18847333		2007	4172	6179	-	-	-	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7979G>A	16.37:g.18847333C>T	ENSP00000402515:p.Arg2660Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2660Q	ENST00000446231.2	37	c.7979	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934929	0.92458	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01335	5.0;5.0	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.52532	D	0.000064	T	0.05640	0.0148	L	0.32530	0.975	0.46185	D	0.99891	D	0.69078	0.997	D	0.70227	0.968	T	0.42982	-0.9419	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	2660	Q96Q15	SMG1_HUMAN	Q	2660	ENSP00000402515:R2660Q;ENSP00000374118:R2660Q	ENSP00000374118:R2660Q	R	-	2	0	SMG1	18754834	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.568000	0.82369	2.826000	0.97356	0.655000	0.94253	CGA	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.493	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	163	0.00	0	C	NM_015092		18847333	18847333	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	107	16.41	21	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18865059	18865059	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:18865059C>A	ENST00000446231.2	-	31	5026	c.4614G>T	c.(4612-4614)gaG>gaT	p.E1538D	SMG1_ENST00000389467.3_Missense_Mutation_p.E1538D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1538	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTCCTGAAATCTCTTTCCATT	0.408																																						dbGAP											0													123.0	111.0	115.0					16																	18865059		1891	4114	6005	-	-	-	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4614G>T	16.37:g.18865059C>A	ENSP00000402515:p.Glu1538Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1538D	ENST00000446231.2	37	c.4614	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156775	0.38119	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01076	5.37;5.37	5.44	0.937	0.19494	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000014	T	0.00608	0.0020	N	0.03608	-0.345	0.29605	N	0.847368	B	0.06786	0.001	B	0.04013	0.001	T	0.43261	-0.9402	10	0.15066	T	0.55	.	9.492	0.38965	0.0:0.4208:0.0:0.5792	.	1538	Q96Q15	SMG1_HUMAN	D	1538	ENSP00000402515:E1538D;ENSP00000374118:E1538D	ENSP00000374118:E1538D	E	-	3	2	SMG1	18772560	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	0.656000	0.24948	-0.007000	0.14345	-0.254000	0.11334	GAG	SMG1	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000157106		0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	507	0.20	1	C	NM_015092		18865059	18865059	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	273	16.77	55	SNP	0.997	A
SMG7	9887	genome.wustl.edu	37	1	183511583	183511583	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:183511583G>T	ENST00000347615.2	+	14	1907	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	SMG7_ENST00000456731.2_Intron|SMG7_ENST00000515829.2_Intron|SMG7_ENST00000507469.1_Intron|SMG7_ENST00000508461.1_Missense_Mutation_p.K554N|SMG7_ENST00000367537.3_Intron	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	596					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.K596N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTGAAACCAAGAAATGCACCT	0.408																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											99.0	96.0	97.0					1																	183511583		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1788G>T	1.37:g.183511583G>T	ENSP00000340766:p.Lys596Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.K596N	ENST00000347615.2	37	c.1788	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732116	0.69189	.	.	ENSG00000116698	ENST00000508461;ENST00000347615	T;T	0.50548	0.74;0.74	4.66	4.66	0.58398	.	.	.	.	.	T	0.40067	0.1102	L	0.29908	0.895	0.80722	D	1	P;P	0.48407	0.91;0.91	B;B	0.42882	0.401;0.289	T	0.22941	-1.0202	8	.	.	.	.	17.5373	0.87835	0.0:0.0:1.0:0.0	.	554;596	E9PCI0;Q92540	.;SMG7_HUMAN	N	554;596	ENSP00000426915:K554N;ENSP00000340766:K596N	.	K	+	3	2	SMG7	181778206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.896000	0.75665	2.281000	0.76405	0.561000	0.74099	AAG	SMG7	-	NULL	ENSG00000116698		0.408	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	215	0.00	0	G	NM_014837		183511583	183511583	+1	no_errors	ENST00000347615	ensembl	human	known	69_37n	missense	123	41.15	86	SNP	1.000	T
SMPD2	6610	genome.wustl.edu	37	6	109763923	109763923	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:109763923G>T	ENST00000258052.3	+	7	850				PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)						apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGTGATGGAAGAACTCCCGCC	0.587																																						dbGAP											0													83.0	77.0	79.0					6																	109763923		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.492-32G>T	6.37:g.109763923G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TED1|Q9BWR3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.K50N	ENST00000258052.3	37	c.150	CCDS5075.1	6	.	.	.	.	.	.	.	.	.	.	G	6.437	0.448706	0.12223	.	.	ENSG00000135587	ENST00000458487	.	.	.	4.61	3.65	0.41850	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.20074	N	0.999933	.	.	.	.	.	.	T	0.07121	-1.0789	4	.	.	.	.	6.7967	0.23729	0.1282:0.0:0.8718:0.0	.	.	.	.	N	50	.	.	K	+	3	2	SMPD2	109870616	0.047000	0.20315	0.072000	0.20136	0.179000	0.23085	0.534000	0.23098	2.403000	0.81681	0.655000	0.94253	AAG	SMPD2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000135587		0.587	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	44	0.00	0	G			109763923	109763923	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000458487	ensembl	human	putative	69_37n	missense	31	11.43	4	SNP	0.010	T
SMUG1	23583	genome.wustl.edu	37	12	54575840	54575840	+	3'UTR	SNP	C	C	T	rs375200213		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:54575840C>T	ENST00000508394.2	-	0	915				SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000337581.3_3'UTR|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000401977.2_3'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						AGAATGACTTCGAGGTCTTGA	0.527								Base excision repair (BER), DNA glycosylases					C|||	1	0.000199681	0.0	0.0	5008	,	,		21776	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													55.0	58.0	57.0					12																	54575840		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.*40G>A	12.37:g.54575840C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	RNA	SNP	-	NULL	ENST00000508394.2	37	NULL	CCDS8874.1	12																																																																																			SMUG1	-	-	ENSG00000123415		0.527	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMUG1	HGNC	protein_coding	OTTHUMT00000359074.3	117	0.00	0	C	NM_014311		54575840	54575840	-1	no_errors	ENST00000505662	ensembl	human	known	69_37n	rna	71	11.25	9	SNP	0.000	T
SMURF1	57154	genome.wustl.edu	37	7	98630674	98630674	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:98630674C>T	ENST00000361125.1	-	18	2479	c.2160G>A	c.(2158-2160)ccG>ccA	p.P720P	SMURF1_ENST00000361368.2_Silent_p.P694P|AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	720	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TATGGGCCTTCGGAAGGTTGT	0.522																																						dbGAP											0													76.0	61.0	66.0					7																	98630674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.2160G>A	7.37:g.98630674C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.P720	ENST00000361125.1	37	c.2160	CCDS34690.1	7																																																																																			SMURF1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198742		0.522	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	HGNC	protein_coding	OTTHUMT00000335001.2	154	0.00	0	C	NM_020429		98630674	98630674	-1	no_errors	ENST00000361125	ensembl	human	known	69_37n	silent	82	25.45	28	SNP	0.656	T
SMYD2	56950	genome.wustl.edu	37	1	214503571	214503571	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:214503571G>A	ENST00000366957.5	+	8	788	c.766G>A	c.(766-768)Gat>Aat	p.D256N	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.D256N	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	256					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		CCGGTTAAGAGATTCTTATTT	0.458																																						dbGAP											0													101.0	92.0	95.0					1																	214503571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.766G>A	1.37:g.214503571G>A	ENSP00000355924:p.Asp256Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.D256N	ENST00000366957.5	37	c.766	CCDS31022.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851811	0.91355	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.13307	2.6;2.6	5.63	4.72	0.59763	.	0.091610	0.64402	D	0.000001	T	0.29158	0.0725	M	0.65975	2.015	0.54753	D	0.999985	D;D	0.71674	0.998;0.995	P;P	0.59171	0.837;0.853	T	0.01998	-1.1232	10	0.33940	T	0.23	-2.7782	12.8663	0.57941	0.0751:0.0:0.9249:0.0	.	256;240	Q9NRG4;Q05C86	SMYD2_HUMAN;.	N	256	ENSP00000355924:D256N;ENSP00000388682:D256N	ENSP00000355924:D256N	D	+	1	0	SMYD2	212570194	1.000000	0.71417	0.449000	0.26957	0.983000	0.72400	7.581000	0.82535	1.373000	0.46208	0.591000	0.81541	GAT	SMYD2	-	NULL	ENSG00000143499		0.458	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD2	HGNC	protein_coding	OTTHUMT00000089998.1	167	0.00	0	G	NM_020197		214503571	214503571	+1	no_errors	ENST00000366957	ensembl	human	known	69_37n	missense	105	12.50	15	SNP	1.000	A
SNCAIP	9627	genome.wustl.edu	37	5	121758959	121758959	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:121758959G>T	ENST00000261368.8	+	4	789	c.527G>T	c.(526-528)aGa>aTa	p.R176I	SNCAIP_ENST00000379536.2_Missense_Mutation_p.R176I|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R223I|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R223I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R223I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	176					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCAGAAAAAAGAATTTTGGGC	0.448																																						dbGAP											0													98.0	101.0	100.0					5																	121758959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.527G>T	5.37:g.121758959G>T	ENSP00000261368:p.Arg176Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R223I	ENST00000261368.8	37	c.668	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901956	0.72754	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.64	5.64	0.86602	.	0.046212	0.85682	D	0.000000	T	0.42877	0.1222	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.71674	0.985;0.995;0.998;0.981	P;D;D;P	0.76575	0.823;0.939;0.988;0.77	T	0.09952	-1.0651	9	.	.	.	-28.0205	13.4005	0.60881	0.0809:0.0:0.9191:0.0	.	176;223;223;176	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	I	176;176;223;176;223;223	ENSP00000422106:R176I;ENSP00000261368:R176I;ENSP00000368848:R223I;ENSP00000368851:R176I;ENSP00000261367:R223I;ENSP00000423199:R223I	.	R	+	2	0	SNCAIP	121786858	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.194000	0.58393	2.681000	0.91329	0.561000	0.74099	AGA	SNCAIP	-	NULL	ENSG00000064692		0.448	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	113	0.00	0	G			121758959	121758959	+1	no_errors	ENST00000379533	ensembl	human	known	69_37n	missense	66	29.79	28	SNP	0.997	T
RPL4	6124	genome.wustl.edu	37	15	66795236	66795236	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:66795236C>T	ENST00000307961.6	-	4	375				SNORD18A_ENST00000363753.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|ZWILCH_ENST00000446801.2_5'Flank|RPL4_ENST00000564517.1_5'Flank|ZWILCH_ENST00000307897.5_5'Flank|ZWILCH_ENST00000535141.2_5'Flank|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_5'Flank|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACGCAAATTACGACATCATTG	0.373																																						dbGAP											0													45.0	44.0	44.0					15																	66795236		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.283-148G>A	15.37:g.66795236C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K502|P39029|Q4VBR0|Q969Z9	RNA	SNP	-	NULL	ENST00000307961.6	37	NULL	CCDS10218.1	15																																																																																			SNORD16	-	-	ENSG00000199673		0.373	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD16	HGNC	protein_coding	OTTHUMT00000256903.2	44	0.00	0	C	NM_000968		66795236	66795236	-1	no_errors	ENST00000362803	ensembl	human	known	69_37n	rna	29	19.44	7	SNP	1.000	T
EEF2	1938	genome.wustl.edu	37	19	3982520	3982520	+	Intron	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:3982520T>C	ENST00000309311.6	-	5	701				EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGCAGGCTTTCTTCAGTAG	0.597																																					Colon(165;1804 1908 4071 6587 18799)	dbGAP											0													49.0	48.0	48.0					19																	3982520		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.613-98A>G	19.37:g.3982520T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMP5|D6W618|Q58J86	RNA	SNP	-	NULL	ENST00000309311.6	37	NULL	CCDS12117.1	19																																																																																			SNORD37	-	-	ENSG00000206775		0.597	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD37	HGNC	protein_coding	OTTHUMT00000457615.2	12	0.00	0	T	NM_001961		3982520	3982520	-1	no_errors	ENST00000384048	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	0.926	C
RBMX	27316	genome.wustl.edu	37	X	135961416	135961416	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:135961416C>A	ENST00000320676.7	-	2	264				SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_Intron|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000431446.3_Intron	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCAATGCAATCAAATTCATCA	0.353																																						dbGAP											0													99.0	97.0	98.0					X																	135961416		876	1991	2867	-	-	-	SO:0001627	intron_variant	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.109+61G>T	X.37:g.135961416C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	RNA	SNP	-	NULL	ENST00000320676.7	37	NULL	CCDS14661.1	X																																																																																			SNORD61	-	-	ENSG00000206979		0.353	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD61	HGNC	protein_coding	OTTHUMT00000058507.1	90	0.00	0	C	NM_002139		135961416	135961416	-1	no_errors	ENST00000384252	ensembl	human	known	69_37n	rna	78	24.27	25	SNP	0.002	A
SNRK	54861	genome.wustl.edu	37	3	43344694	43344694	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:43344694G>A	ENST00000296088.7	+	0	303				SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_5'UTR|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_5'UTR	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGTTGGACCAGCATGGCAGGA	0.368																																						dbGAP											0													79.0	76.0	77.0					3																	43344694		1821	4078	5899	-	-	-	SO:0001623	5_prime_UTR_variant	0			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.-2G>A	3.37:g.43344694G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000296088.7	37	NULL	CCDS43075.1	3																																																																																			SNRK	-	-	ENSG00000163788		0.368	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRK	HGNC	protein_coding	OTTHUMT00000344325.1	243	0.00	0	G	NM_017719		43344694	43344694	+1	no_errors	ENST00000462810	ensembl	human	known	69_37n	rna	129	18.35	29	SNP	1.000	A
SNRNP200	23020	genome.wustl.edu	37	2	96964556	96964556	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:96964556C>A	ENST00000323853.5	-	7	956	c.879G>T	c.(877-879)ttG>ttT	p.L293F	SNRNP200_ENST00000349783.5_Missense_Mutation_p.L293F	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	293					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCCATACCTTCAAAATCTCCA	0.453																																						dbGAP											0													102.0	97.0	99.0					2																	96964556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.879G>T	2.37:g.96964556C>A	ENSP00000317123:p.Leu293Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L293F	ENST00000323853.5	37	c.879	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529207	0.64860	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.75821	-0.97;0.74	5.58	2.82	0.32997	.	0.175515	0.40222	N	0.001157	T	0.76118	0.3943	M	0.90542	3.125	0.58432	D	0.999999	P	0.36577	0.558	B	0.36845	0.234	T	0.76334	-0.2997	10	0.72032	D	0.01	-11.253	7.8639	0.29526	0.0:0.6779:0.0:0.3221	.	293	O75643	U520_HUMAN	F	293	ENSP00000317123:L293F;ENSP00000326937:L293F	ENSP00000317123:L293F	L	-	3	2	SNRNP200	96328283	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.527000	0.22987	0.722000	0.32252	0.555000	0.69702	TTG	SNRNP200	-	NULL	ENSG00000144028		0.453	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	135	0.00	0	C	NM_014014		96964556	96964556	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	114	14.29	19	SNP	1.000	A
SNTB1	6641	genome.wustl.edu	37	8	121823756	121823756	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:121823756T>G	ENST00000395601.3	-	2	742	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	RP11-713M15.2_ENST00000605955.1_RNA|SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.K110Q	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	110	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACGCCACGCTTCTGGTTCGAG	0.682																																						dbGAP											0													31.0	31.0	31.0					8																	121823756		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.328A>C	8.37:g.121823756T>G	ENSP00000378965:p.Lys110Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.K110Q	ENST00000395601.3	37	c.328	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138833	0.77775	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.51325	0.71;0.71	4.92	4.92	0.64577	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.33189	0.99	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.70487	0.969;0.943	T	0.52859	-0.8519	10	0.32370	T	0.25	.	14.209	0.65753	0.0:0.0:0.0:1.0	.	110;110	Q13884;Q13884-2	SNTB1_HUMAN;.	Q	110	ENSP00000378965:K110Q;ENSP00000431124:K110Q	ENSP00000378965:K110Q	K	-	1	0	SNTB1	121892937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.649000	0.67936	1.823000	0.53134	0.459000	0.35465	AAG	SNTB1	-	superfamily_PDZ,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000172164		0.682	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	23	0.00	0	T	NM_021021		121823756	121823756	-1	no_errors	ENST00000395601	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	G
SNTG2	54221	genome.wustl.edu	37	2	1263154	1263154	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:1263154G>A	ENST00000308624.5	+	13	1147	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D213N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	340	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGCACATTCGATTGGGTGCG	0.388																																						dbGAP											0													112.0	106.0	108.0					2																	1263154		1877	4124	6001	-	-	-	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1018G>A	2.37:g.1263154G>A	ENSP00000311837:p.Asp340Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D340N	ENST00000308624.5	37	c.1018	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993237	0.54041	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.72167	0.85;-0.63	4.76	4.76	0.60689	Pleckstrin homology domain (1);	0.110826	0.64402	D	0.000013	T	0.82001	0.4942	M	0.79258	2.445	0.58432	D	0.999997	D;D	0.76494	0.999;0.996	P;P	0.58266	0.836;0.616	D	0.84795	0.0781	10	0.59425	D	0.04	.	17.3707	0.87376	0.0:0.0:1.0:0.0	.	213;340	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	340;213	ENSP00000311837:D340N;ENSP00000385020:D213N	ENSP00000311837:D340N	D	+	1	0	SNTG2	1245754	1.000000	0.71417	0.806000	0.32338	0.024000	0.10985	6.506000	0.73712	2.189000	0.69895	0.637000	0.83480	GAT	SNTG2	-	NULL	ENSG00000172554		0.388	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	171	0.00	0	G	NM_018968		1263154	1263154	+1	no_errors	ENST00000308624	ensembl	human	known	69_37n	missense	144	10.56	17	SNP	0.998	A
SNX14	57231	genome.wustl.edu	37	6	86259519	86259519	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:86259519C>A	ENST00000314673.3	-	8	889	c.713G>T	c.(712-714)aGa>aTa	p.R238I	SNX14_ENST00000513865.1_Missense_Mutation_p.R238I|SNX14_ENST00000369627.2_Missense_Mutation_p.R238I|SNX14_ENST00000346348.3_Missense_Mutation_p.R194I|SNX14_ENST00000505648.1_Missense_Mutation_p.R186I|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	238	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAATTCATCTCTTCGACTTCT	0.328																																						dbGAP											0													89.0	95.0	93.0					6																	86259519		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.713G>T	6.37:g.86259519C>A	ENSP00000313121:p.Arg238Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.R238I	ENST00000314673.3	37	c.713	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335775	0.81801	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000509338	T;T;T;T;T;T	0.32988	1.87;1.85;1.43;1.85;1.84;1.84	5.39	4.51	0.55191	Phox-associated domain (2);	0.042935	0.85682	D	0.000000	T	0.40522	0.1120	M	0.62723	1.935	0.80722	D	1	D;D;P;D	0.63880	0.973;0.993;0.952;0.973	P;P;P;P	0.62089	0.807;0.898;0.828;0.807	T	0.43718	-0.9374	10	0.66056	D	0.02	-14.296	15.9731	0.80036	0.0:0.8648:0.1352:0.0	.	238;194;238;186	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	I	194;238;238;186;238;165;142	ENSP00000257769:R194I;ENSP00000313121:R238I;ENSP00000420938:R238I;ENSP00000427380:R186I;ENSP00000358641:R238I;ENSP00000425630:R165I	ENSP00000313121:R238I	R	-	2	0	SNX14	86316238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.680000	0.68168	1.251000	0.43983	0.484000	0.47621	AGA	SNX14	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000135317		0.328	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	179	0.00	0	C	NM_153816		86259519	86259519	-1	no_errors	ENST00000314673	ensembl	human	known	69_37n	missense	104	29.25	43	SNP	1.000	A
SNX18	112574	genome.wustl.edu	37	5	53814487	53814487	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:53814487C>T	ENST00000326277.3	+	1	895	c.705C>T	c.(703-705)ttC>ttT	p.F235F	SNX18_ENST00000343017.6_Silent_p.F235F|SNX18_ENST00000381410.4_Silent_p.F235F	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	235					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TCTCCACCTTCGTCAAGTCCG	0.706																																						dbGAP											0													40.0	49.0	46.0					5																	53814487		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.705C>T	5.37:g.53814487C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.F235	ENST00000326277.3	37	c.705	CCDS3962.1	5																																																																																			SNX18	-	pirsf_Snx9	ENSG00000178996		0.706	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	28	0.00	0	C			53814487	53814487	+1	no_errors	ENST00000326277	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	1.000	T
SNX18	112574	genome.wustl.edu	37	5	53839149	53839149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:53839149C>T	ENST00000381410.4	+	2	1952	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	437	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CCATCAAATTCGAGTGAGAGA	0.398																																						dbGAP											0													97.0	95.0	95.0					5																	53839149		1918	4125	6043	-	-	-	SO:0001587	stop_gained	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1762C>T	5.37:g.53839149C>T	ENSP00000370817:p.Arg588*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B3|H7BXX3|Q05BB3|Q0VG02	Nonsense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.R588*	ENST00000381410.4	37	c.1762	CCDS43317.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.863895	0.98531	.	.	ENSG00000178996	ENST00000381410	.	.	.	5.72	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6172	0.76775	0.1426:0.8574:0.0:0.0	.	.	.	.	X	588	.	ENSP00000370817:R588X	R	+	1	2	SNX18	53874906	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.773000	0.55333	1.344000	0.45657	0.655000	0.94253	CGA	SNX18	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000178996		0.398	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214073.2	238	0.00	0	C			53839149	53839149	+1	no_errors	ENST00000381410	ensembl	human	known	69_37n	nonsense	120	23.08	36	SNP	1.000	T
SNX25	83891	genome.wustl.edu	37	4	186284650	186284650	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:186284650C>A	ENST00000504273.1	+	0	2848				SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGAAAAATGTCTGTGTAATAA	0.363																																						dbGAP											0													62.0	61.0	62.0					4																	186284650		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.*31C>A	4.37:g.186284650C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZT30|Q8N6K3	RNA	SNP	-	NULL	ENST00000504273.1	37	NULL	CCDS34116.1	4																																																																																			SNX25	-	-	ENSG00000109762		0.363	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	89	0.00	0	C	NM_031953		186284650	186284650	+1	no_errors	ENST00000512853	ensembl	human	known	69_37n	rna	72	12.20	10	SNP	1.000	A
SNX27	81609	genome.wustl.edu	37	1	151665461	151665461	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151665461C>T	ENST00000458013.2	+	10	1584	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	SNX27_ENST00000368838.1_Silent_p.F395F|SNX27_ENST00000368843.3_Silent_p.F488F			Q96L92	SNX27_HUMAN	sorting nexin family member 27	488	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.F488F(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCTGTTTCGAATATGCAC	0.448																																					Colon(46;291 966 40145 41237 41888)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											142.0	140.0	141.0					1																	151665461		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1464C>T	1.37:g.151665461C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.F488	ENST00000458013.2	37	c.1464		1																																																																																			SNX27	-	NULL	ENSG00000143376		0.448	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	560	0.18	1	C	NM_030918		151665461	151665461	+1	no_errors	ENST00000368843	ensembl	human	known	69_37n	silent	538	11.60	71	SNP	0.997	T
SNX31	169166	genome.wustl.edu	37	8	101642582	101642582	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101642582G>A	ENST00000311812.2	-	4	444	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	98	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AAAACTCAACGAAGACATCAC	0.493																																						dbGAP											0													95.0	78.0	84.0					8																	101642582		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.294C>T	8.37:g.101642582G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6L9|Q8N0U9	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F98	ENST00000311812.2	37	c.294	CCDS6288.1	8																																																																																			SNX31	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000174226		0.493	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX31	HGNC	protein_coding	OTTHUMT00000379910.1	151	0.00	0	G	NM_152628		101642582	101642582	-1	no_errors	ENST00000311812	ensembl	human	known	69_37n	silent	177	10.15	20	SNP	0.657	A
SNX31	169166	genome.wustl.edu	37	8	101661534	101661534	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101661534G>A	ENST00000311812.2	-	2	259	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	37	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTGTAGCGCACCCTGCAG	0.602																																						dbGAP											0													72.0	69.0	70.0					8																	101661534		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.109C>T	8.37:g.101661534G>A	ENSP00000312368:p.Arg37Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6L9|Q8N0U9	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R37C	ENST00000311812.2	37	c.109	CCDS6288.1	8	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090773	0.76756	.	.	ENSG00000174226	ENST00000311812;ENST00000520743	T;T	0.55234	0.53;0.53	4.54	4.54	0.55810	Phox homologous domain (5);	0.000000	0.64402	D	0.000007	T	0.76800	0.4038	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82534	-0.0409	10	0.87932	D	0	-11.379	14.567	0.68185	0.0:0.0:1.0:0.0	.	37	Q8N9S9	SNX31_HUMAN	C	37;63	ENSP00000312368:R37C;ENSP00000428262:R63C	ENSP00000312368:R37C	R	-	1	0	SNX31	101730710	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.134000	0.64770	2.238000	0.73509	0.462000	0.41574	CGC	SNX31	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000174226		0.602	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX31	HGNC	protein_coding	OTTHUMT00000379910.1	75	0.00	0	G	NM_152628		101661534	101661534	-1	no_errors	ENST00000311812	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	1.000	A
SNX32	254122	genome.wustl.edu	37	11	65617942	65617942	+	Missense_Mutation	SNP	G	G	A	rs549693634	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65617942G>A	ENST00000308342.6	+	5	840	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	139	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGCGATGCACGAAGTCTTTCT	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		5114	0.0		0.0	False		,,,				2504	0.0031					dbGAP											0													69.0	63.0	65.0					11																	65617942		2201	4297	6498	-	-	-	SO:0001583	missense	0			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.415G>A	11.37:g.65617942G>A	ENSP00000310620:p.Glu139Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.E139K	ENST00000308342.6	37	c.415	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783392	0.90282	.	.	ENSG00000172803	ENST00000308342	T	0.49720	0.77	4.26	3.34	0.38264	Phox homologous domain (4);	0.000000	0.53938	D	0.000056	T	0.70789	0.3264	M	0.90019	3.08	0.40239	D	0.977931	D	0.89917	1.0	D	0.83275	0.996	T	0.75534	-0.3284	10	0.87932	D	0	-10.582	9.7153	0.40270	0.1029:0.0:0.8971:0.0	.	139	Q86XE0	SNX32_HUMAN	K	139	ENSP00000310620:E139K	ENSP00000310620:E139K	E	+	1	0	SNX32	65374518	1.000000	0.71417	0.062000	0.19696	0.971000	0.66376	6.243000	0.72384	1.009000	0.39289	0.561000	0.74099	GAA	SNX32	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	ENSG00000172803		0.592	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	184	0.00	0	G	NM_152760		65617942	65617942	+1	no_errors	ENST00000308342	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	1.000	A
SNX32	254122	genome.wustl.edu	37	11	65620232	65620232	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65620232C>T	ENST00000308342.6	+	11	1469	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	348					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GCCAACGCTTCGAGCGCCTCT	0.701																																						dbGAP											0													22.0	26.0	25.0					11																	65620232		2199	4291	6490	-	-	-	SO:0001819	synonymous_variant	0			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1044C>T	11.37:g.65620232C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW53|Q96NG4	Silent	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.F348	ENST00000308342.6	37	c.1044	CCDS8113.2	11																																																																																			SNX32	-	pfam_Vps5_C,pirsf_Snx5_Snx6	ENSG00000172803		0.701	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	49	0.00	0	C	NM_152760		65620232	65620232	+1	no_errors	ENST00000308342	ensembl	human	known	69_37n	silent	30	36.17	17	SNP	0.986	T
SNX6	58533	genome.wustl.edu	37	14	35062320	35062320	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:35062320G>T	ENST00000362031.4	-	8	715	c.685C>A	c.(685-687)Ctt>Att	p.L229I	SNX6_ENST00000396534.3_Missense_Mutation_p.L101I|SNX6_ENST00000355110.5_Missense_Mutation_p.L105I|SNX6_ENST00000396526.3_Missense_Mutation_p.L101I	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	217					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		TACTCCAAAAGAAATGTTCGT	0.299																																						dbGAP											0													75.0	72.0	73.0					14																	35062320		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.685C>A	14.37:g.35062320G>T	ENSP00000355217:p.Leu229Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C0H5W9|Q9Y449	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.L229I	ENST00000362031.4	37	c.685	CCDS41942.1	14	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055650	0.55325	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110;ENST00000557265	T;T;T;T;T	0.57752	1.54;1.54;1.54;1.54;0.38	4.69	4.69	0.59074	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	M	0.76433	2.335	0.80722	D	1	D;D	0.57257	0.979;0.979	D;D	0.71414	0.973;0.973	T	0.75280	-0.3373	10	0.54805	T	0.06	-8.9303	17.6053	0.88036	0.0:0.0:1.0:0.0	.	105;217	B4DJS7;Q9UNH7	.;SNX6_HUMAN	I	101;101;229;105;192	ENSP00000379779:L101I;ENSP00000379785:L101I;ENSP00000355217:L229I;ENSP00000347230:L105I;ENSP00000452577:L192I	ENSP00000347230:L105I	L	-	1	0	SNX6	34132071	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.976000	0.76135	2.340000	0.79590	0.561000	0.74099	CTT	SNX6	-	pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6	ENSG00000129515		0.299	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	HGNC	protein_coding	OTTHUMT00000276642.3	281	0.00	0	G			35062320	35062320	-1	no_errors	ENST00000362031	ensembl	human	known	69_37n	missense	236	10.57	28	SNP	1.000	T
SOBP	55084	genome.wustl.edu	37	6	107811910	107811910	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:107811910G>A	ENST00000317357.5	+	1	749	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCAATGAGGAGATGAAGGTAT	0.562																																						dbGAP											0													51.0	60.0	57.0					6																	107811910		1852	4088	5940	-	-	-	SO:0001819	synonymous_variant	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.90G>A	6.37:g.107811910G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.E30	ENST00000317357.5	37	c.90	CCDS43488.1	6																																																																																			SOBP	-	NULL	ENSG00000112320		0.562	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	180	0.00	0	G	NM_018013		107811910	107811910	+1	no_errors	ENST00000317357	ensembl	human	known	69_37n	silent	95	26.36	34	SNP	1.000	A
SNX9	51429	genome.wustl.edu	37	6	158288594	158288594	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:158288594G>A	ENST00000392185.3	+	2	199	c.28G>A	c.(28-30)Gat>Aat	p.D10N		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	10	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GGTTATGTATGATTTTGCTGC	0.388																																						dbGAP											0													176.0	146.0	156.0					6																	158288594		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.28G>A	6.37:g.158288594G>A	ENSP00000376024:p.Asp10Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.D10N	ENST00000392185.3	37	c.28	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338587	0.60963	.	.	ENSG00000130340	ENST00000539592;ENST00000392185	T	0.66815	-0.23	5.43	4.37	0.52481	Src homology-3 domain (4);	0.105037	0.64402	D	0.000007	T	0.60274	0.2256	M	0.84846	2.72	0.80722	D	1	B	0.23854	0.092	B	0.28638	0.092	T	0.68895	-0.5288	10	0.62326	D	0.03	-3.2178	12.03	0.53392	0.0978:0.0:0.9022:0.0	.	10	Q9Y5X1	SNX9_HUMAN	N	10	ENSP00000376024:D10N	ENSP00000376024:D10N	D	+	1	0	SNX9	158208582	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.346000	0.59367	2.062000	0.61559	0.533000	0.62120	GAT	SNX9	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Snx9,pfscan_SH3_domain	ENSG00000130340		0.388	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1	928	0.11	1	G			158288594	158288594	+1	no_errors	ENST00000392185	ensembl	human	known	69_37n	missense	590	11.41	76	SNP	1.000	A
SOCS6	9306	genome.wustl.edu	37	18	67992019	67992019	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:67992019G>T	ENST00000397942.3	+	2	431	c.115G>T	c.(115-117)Gat>Tat	p.D39Y	SOCS6_ENST00000582322.1_Missense_Mutation_p.D39Y	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	39					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTTTGGAAAAGATGATTCCTT	0.373																																					Melanoma(84;1024 1361 24382 36583 42651)	dbGAP											0													89.0	86.0	87.0					18																	67992019		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.115G>T	18.37:g.67992019G>T	ENSP00000381034:p.Asp39Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.D39Y	ENST00000397942.3	37	c.115	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119796	0.37436	.	.	ENSG00000170677	ENST00000397942	T	0.27720	1.65	5.27	4.39	0.52855	.	0.271745	0.34133	N	0.004234	T	0.39655	0.1086	L	0.46157	1.445	0.58432	D	0.999999	P	0.44380	0.834	P	0.49752	0.621	T	0.32561	-0.9902	10	0.87932	D	0	-4.6479	15.2756	0.73739	0.0:0.0:0.8587:0.1413	.	39	O14544	SOCS6_HUMAN	Y	39	ENSP00000381034:D39Y	ENSP00000381034:D39Y	D	+	1	0	SOCS6	66142999	1.000000	0.71417	0.982000	0.44146	0.960000	0.62799	7.982000	0.88131	1.192000	0.43071	0.462000	0.41574	GAT	SOCS6	-	NULL	ENSG00000170677		0.373	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	213	0.00	0	G			67992019	67992019	+1	no_errors	ENST00000397942	ensembl	human	known	69_37n	missense	110	17.29	23	SNP	1.000	T
SOGA1	140710	genome.wustl.edu	37	20	35422703	35422703	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:35422703C>T	ENST00000357779.3	-	14	3394	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	SOGA1_ENST00000237536.4_Missense_Mutation_p.R1261H|SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000456801.2_Missense_Mutation_p.R864H			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1023					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GACTCCGAGGCGCCGGGCCAC	0.627																																						dbGAP											0													32.0	37.0	36.0					20																	35422703		692	1591	2283	-	-	-	SO:0001583	missense	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.3068G>A	20.37:g.35422703C>T	ENSP00000350424:p.Arg1023His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_DUF3166	p.R1023H	ENST00000357779.3	37	c.3068		20	.	.	.	.	.	.	.	.	.	.	C	31	5.062875	0.93898	.	.	ENSG00000149639	ENST00000237536;ENST00000456801;ENST00000357779	T;T;T	0.54866	0.55;0.8;0.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.78049	2.395	0.58432	D	0.999999	.	.	.	.	.	.	T	0.74861	-0.3520	8	0.87932	D	0	-28.8292	18.1119	0.89538	0.0:1.0:0.0:0.0	.	.	.	.	H	1261;864;1023	ENSP00000237536:R1261H;ENSP00000413886:R864H;ENSP00000350424:R1023H	ENSP00000237536:R1261H	R	-	2	0	KIAA0889	34856117	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.431000	0.66507	2.805000	0.96524	0.655000	0.94253	CGC	SOGA1	-	NULL	ENSG00000149639		0.627	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		84	0.00	0	C	NM_199181		35422703	35422703	-1	no_errors	ENST00000357779	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	T
KIAA0408	9729	genome.wustl.edu	37	6	127775222	127775222	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:127775222G>A	ENST00000483725.3	-	0	241				SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408											endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ATTTGAAGCAGTCTCACTTGC	0.368																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.-96C>T	6.37:g.127775222G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	RNA	SNP	-	NULL	ENST00000483725.3	37	NULL	CCDS34531.1	6																																																																																			RP3-403A15.5	-	-	ENSG00000255330		0.368	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SOGA3	Clone_based_vega_gene	protein_coding	OTTHUMT00000042145.3	108	0.00	0	G	NM_014702		127775222	127775222	-1	no_errors	ENST00000474293	ensembl	human	known	69_37n	rna	76	14.61	13	SNP	0.679	A
SORBS1	10580	genome.wustl.edu	37	10	97096790	97096790	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:97096790G>A	ENST00000361941.3	-	28	3153	c.3127C>T	c.(3127-3129)Cgt>Tgt	p.R1043C	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.R1043C|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R997C	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGGGTGGGACGATCTGACCAA	0.562																																						dbGAP											0													135.0	115.0	122.0					10																	97096790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3127C>T	10.37:g.97096790G>A	ENSP00000355136:p.Arg1043Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R1043C	ENST00000361941.3	37	c.3127	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	G	6.860	0.528030	0.13127	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.08634	3.14;3.07;3.14	5.46	3.58	0.41010	.	0.565017	0.14960	N	0.288403	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	0.999999	D;P	0.54964	0.969;0.947	B;B	0.43123	0.409;0.232	T	0.31138	-0.9954	10	0.37606	T	0.19	0.0128	1.7469	0.02963	0.2033:0.1722:0.472:0.1525	.	997;1043	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	C	1043;997;1043	ENSP00000360293:R1043C;ENSP00000360271:R997C;ENSP00000355136:R1043C	ENSP00000355136:R1043C	R	-	1	0	SORBS1	97086780	0.044000	0.20184	0.001000	0.08648	0.473000	0.32948	0.710000	0.25748	0.648000	0.30732	0.561000	0.74099	CGT	SORBS1	-	NULL	ENSG00000095637		0.562	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	193	0.00	0	G			97096790	97096790	-1	no_errors	ENST00000361941	ensembl	human	known	69_37n	missense	152	13.97	25	SNP	0.000	A
SORBS2	8470	genome.wustl.edu	37	4	186544436	186544436	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:186544436G>A	ENST00000284776.7	-	13	2644	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S812L|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S616L|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.S712L|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	712					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTTAGGAGCCGAATTTTTTTT	0.448																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0													126.0	139.0	135.0					4																	186544436		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2135C>T	4.37:g.186544436G>A	ENSP00000284776:p.Ser712Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.S712L	ENST00000284776.7	37	c.2135	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	G	2.580	-0.297679	0.05532	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.35048	1.45;1.45;1.33;1.44	5.88	5.0	0.66597	.	0.741300	0.13760	N	0.364655	T	0.15782	0.0380	N	0.02802	-0.49	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.18871	-1.0323	10	0.10636	T	0.68	-0.1252	11.2173	0.48833	0.0951:0.0:0.9049:0.0	.	616;812;712	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	L	712;712;616;812	ENSP00000284776:S712L;ENSP00000411764:S712L;ENSP00000397482:S616L;ENSP00000347852:S812L	ENSP00000284776:S712L	S	-	2	0	SORBS2	186781430	0.872000	0.30054	0.002000	0.10522	0.045000	0.14185	4.786000	0.62425	1.371000	0.46172	0.561000	0.74099	TCG	SORBS2	-	NULL	ENSG00000154556		0.448	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	136	0.00	0	G	NM_003603		186544436	186544436	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	missense	64	37.14	39	SNP	0.183	A
SORCS1	114815	genome.wustl.edu	37	10	108366943	108366943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:108366943G>T	ENST00000263054.6	-	23	3153	c.3146C>A	c.(3145-3147)tCa>tAa	p.S1049*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.S1049*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.S584*|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1049					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTCATCAGTTGACCTTTTGTT	0.527																																						dbGAP											0													102.0	98.0	99.0					10																	108366943		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3146C>A	10.37:g.108366943G>T	ENSP00000263054:p.Ser1049*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S1049*	ENST00000263054.6	37	c.3146	CCDS7559.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.179735|8.179735	0.98693|0.98693	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000452214|ENST00000369698;ENST00000263054;ENST00000344440	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.363325	.|0.25566	.|N	.|0.029782	T|.	0.66386|.	0.2784|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68762|.	-0.5323|.	3|.	.|.	.|.	.|.	-5.6941|-5.6941	14.9165|14.9165	0.70801|0.70801	0.0:0.2478:0.7522:0.0|0.0:0.2478:0.7522:0.0	.|.	.|.	.|.	.|.	K|X	64|584;1049;1049	.|.	.|.	Q|S	-|-	1|2	0|0	SORCS1|SORCS1	108356933|108356933	0.994000|0.994000	0.37717|0.37717	0.941000|0.941000	0.38009|0.38009	0.339000|0.339000	0.28857|0.28857	2.308000|2.308000	0.43690|0.43690	2.745000|2.745000	0.94114|0.94114	0.655000|0.655000	0.94253|0.94253	CAA|TCA	SORCS1	-	NULL	ENSG00000108018		0.527	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	201	0.00	0	G	NM_052918		108366943	108366943	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	nonsense	123	28.07	48	SNP	0.916	T
SORCS3	22986	genome.wustl.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											0													186.0	170.0	176.0					10																	106899195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1253G>A	10.37:g.106899195G>A	ENSP00000358715:p.Arg418Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R418Q	ENST00000369701.3	37	c.1253	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008494	0.54361	.	.	ENSG00000156395	ENST00000369701	T	0.32753	1.44	5.66	3.81	0.43845	VPS10 (1);	0.200706	0.43260	D	0.000585	T	0.20047	0.0482	L	0.31207	0.915	0.34890	D	0.745424	B	0.24675	0.109	B	0.17098	0.017	T	0.18085	-1.0348	10	0.41790	T	0.15	.	8.0783	0.30729	0.2916:0.0:0.7084:0.0	.	418	Q9UPU3	SORC3_HUMAN	Q	418	ENSP00000358715:R418Q	ENSP00000358715:R418Q	R	+	2	0	SORCS3	106889185	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.674000	0.37544	1.398000	0.46701	0.561000	0.74099	CGA	SORCS3	-	smart_VPS10	ENSG00000156395		0.502	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	594	0.17	1	G	NM_014978		106899195	106899195	+1	no_errors	ENST00000369701	ensembl	human	known	69_37n	missense	338	13.99	55	SNP	0.996	A
SORCS1	114815	genome.wustl.edu	37	10	108437075	108437075	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:108437075G>T	ENST00000263054.6	-	13	1835	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I	SORCS1_ENST00000344440.6_Missense_Mutation_p.L610I|SORCS1_ENST00000369698.1_Missense_Mutation_p.L145I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	610					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.L610I(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTTACCAAAGATGTCGAATT	0.463																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											200.0	157.0	171.0					10																	108437075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1828C>A	10.37:g.108437075G>T	ENSP00000263054:p.Leu610Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L610I	ENST00000263054.6	37	c.1828	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142018	0.77775	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.28069	1.63;1.63;1.63	5.96	5.96	0.96718	VPS10 (1);	0.133678	0.52532	D	0.000064	T	0.37598	0.1009	L	0.43152	1.355	0.45899	D	0.998747	P;P;P;P;P	0.40534	0.598;0.72;0.72;0.598;0.72	B;P;P;B;P	0.49477	0.408;0.612;0.612;0.408;0.612	T	0.02144	-1.1206	9	.	.	.	.	13.5886	0.61946	0.0707:0.0:0.9293:0.0	.	610;610;610;610;610	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	145;610;610	ENSP00000358712:L145I;ENSP00000263054:L610I;ENSP00000345964:L610I	.	L	-	1	0	SORCS1	108427065	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.233000	0.51311	2.833000	0.97629	0.650000	0.86243	CTT	SORCS1	-	smart_VPS10	ENSG00000108018		0.463	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	255	0.00	0	G	NM_052918		108437075	108437075	-1	no_errors	ENST00000344440	ensembl	human	known	69_37n	missense	145	31.28	66	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121414377	121414377	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:121414377G>A	ENST00000260197.7	+	13	1935	c.1806G>A	c.(1804-1806)tcG>tcA	p.S602S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	602					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTTTGGCTCGAACAAAGAGA	0.507																																						dbGAP											0													189.0	163.0	172.0					11																	121414377		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1806G>A	11.37:g.121414377G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S602	ENST00000260197.7	37	c.1806	CCDS8436.1	11																																																																																			SORL1	-	smart_VPS10	ENSG00000137642		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	239	0.00	0	G	NM_003105		121414377	121414377	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	silent	198	13.54	31	SNP	0.759	A
SOX10	6663	genome.wustl.edu	37	22	38370135	38370135	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:38370135C>T	ENST00000396884.2	-	4	1050	c.768G>A	c.(766-768)ccG>ccA	p.P256P	POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Silent_p.P256P|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	256					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CGTCCCGCTTCGGGTCTGCCT	0.632																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	dbGAP											0													117.0	115.0	116.0					22																	38370135		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.768G>A	22.37:g.38370135C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV62|Q6FHW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R133Q	ENST00000396884.2	37	c.398	CCDS13964.1	22	.	.	.	.	.	.	.	.	.	.	C	7.415	0.635636	0.14322	.	.	ENSG00000100146	ENST00000446929	.	.	.	4.62	1.08	0.20341	.	.	.	.	.	T	0.59376	0.2189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55431	-0.8142	4	.	.	.	.	11.3314	0.49479	0.0:0.2131:0.6587:0.1282	.	.	.	.	Q	133	.	.	R	-	2	0	SOX10	36700081	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	0.701000	0.25616	0.369000	0.24510	-0.485000	0.04761	CGA	SOX10	-	NULL	ENSG00000100146		0.632	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	112	0.00	0	C	NM_006941		38370135	38370135	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000446929	ensembl	human	putative	69_37n	missense	55	12.70	8	SNP	1.000	T
SP140	11262	genome.wustl.edu	37	2	231155181	231155181	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:231155181G>T	ENST00000392045.3	+	19	1841	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	SP140_ENST00000420434.3_Missense_Mutation_p.R549I|SP140_ENST00000343805.6_Missense_Mutation_p.R516I|SP140_ENST00000350136.5_Missense_Mutation_p.R445I|SP140_ENST00000417495.3_Missense_Mutation_p.R462I|SP140_ENST00000486687.2_Missense_Mutation_p.R500I	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	576					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCAGCTTCAAGAAAGCACAAA	0.438																																						dbGAP											0													141.0	134.0	136.0					2																	231155181		1876	4108	5984	-	-	-	SO:0001583	missense	0			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1727G>T	2.37:g.231155181G>T	ENSP00000375899:p.Arg576Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.R576I	ENST00000392045.3	37	c.1727	CCDS42831.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600448	0.46423	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	3.06	2.15	0.27550	SAND domain-like (2);	.	.	.	.	T	0.65133	0.2662	L	0.29908	0.895	0.27036	N	0.964138	D;D;D;P	0.76494	0.999;0.989;0.994;0.889	D;D;D;B	0.83275	0.996;0.924;0.983;0.425	T	0.53634	-0.8411	9	0.87932	D	0	-6.9856	6.5643	0.22503	0.1502:0.0:0.8498:0.0	.	549;462;516;576	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	I	500;445;576;462;516;549	ENSP00000440107:R500I;ENSP00000345846:R445I;ENSP00000375899:R576I;ENSP00000342096:R516I;ENSP00000398210:R549I	ENSP00000342096:R516I	R	+	2	0	SP140	230863425	0.627000	0.27129	0.062000	0.19696	0.237000	0.25408	0.336000	0.19823	0.577000	0.29470	0.456000	0.33151	AGA	SP140	-	superfamily_SAND_dom-like	ENSG00000079263		0.438	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SP140	HGNC	protein_coding	OTTHUMT00000332015.1	527	0.19	1	G	NM_007237		231155181	231155181	+1	no_errors	ENST00000392045	ensembl	human	known	69_37n	missense	404	10.82	49	SNP	0.407	T
SP100	6672	genome.wustl.edu	37	2	231368998	231368998	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:231368998C>A	ENST00000264052.5	+	21	2218	c.1863C>A	c.(1861-1863)ttC>ttA	p.F621L	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000340126.4_Missense_Mutation_p.F621L|SP100_ENST00000409112.1_Missense_Mutation_p.F621L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	621	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGCGATTCAAACAAGGTG	0.403																																						dbGAP											0													157.0	161.0	160.0					2																	231368998		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1863C>A	2.37:g.231368998C>A	ENSP00000264052:p.Phe621Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.F621L	ENST00000264052.5	37	c.1863	CCDS2477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.234|0.234	-1.018754|-1.018754	0.02078|0.02078	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	T;T;T|.	0.63417|.	-0.04;-0.04;-0.04|.	4.54|4.54	-7.18|-7.18	0.01505|0.01505	SAND domain-like (2);SAND domain (3);|.	0.956955|.	0.08460|.	N|.	0.942571|.	T|T	0.08358|0.08358	0.0208|0.0208	N|N	0.04297|0.04297	-0.235|-0.235	0.19300|0.19300	N|N	0.999978|0.999978	B;B;B|.	0.18741|.	0.002;0.008;0.03|.	B;B;B|.	0.23716|.	0.003;0.012;0.048|.	T|T	0.25882|0.25882	-1.0119|-1.0119	10|5	0.02654|.	T|.	1|.	.|.	0.1466|0.1466	0.00089|0.00089	0.341:0.2207:0.1731:0.2653|0.341:0.2207:0.1731:0.2653	.|.	621;621;621|.	P23497-4;P23497;E7EUA7|.	.;SP100_HUMAN;.|.	L|K	621;621;621;104|8	ENSP00000264052:F621L;ENSP00000386427:F621L;ENSP00000343023:F621L|.	ENSP00000264052:F621L|.	F|Q	+|+	3|1	2|0	SP100|SP100	231077242|231077242	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.260000|-0.260000	0.08708|0.08708	-1.428000|-1.428000	0.01989|0.01989	-0.868000|-0.868000	0.02995|0.02995	TTC|CAA	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000067066		0.403	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	763	0.00	0	C	NM_003113		231368998	231368998	+1	no_errors	ENST00000340126	ensembl	human	known	69_37n	missense	476	25.51	163	SNP	0.000	A
SP2	6668	genome.wustl.edu	37	17	46000545	46000545	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:46000545C>T	ENST00000376741.4	+	4	1414	c.1277C>T	c.(1276-1278)gCa>gTa	p.A426V	AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000585280.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	426					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AGCCTGAATGCAGCCCAGTTG	0.582																																						dbGAP											0													63.0	55.0	58.0					17																	46000545		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1277C>T	17.37:g.46000545C>T	ENSP00000365931:p.Ala426Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK74	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A426V	ENST00000376741.4	37	c.1277	CCDS11521.2	17	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872630	0.72180	.	.	ENSG00000167182	ENST00000376741	T	0.12039	2.72	5.95	5.95	0.96441	.	0.140811	0.52532	D	0.000080	T	0.15392	0.0371	L	0.50333	1.59	0.45791	D	0.998678	B	0.28713	0.22	B	0.22386	0.039	T	0.06499	-1.0823	10	0.18276	T	0.48	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	426	Q02086	SP2_HUMAN	V	426	ENSP00000365931:A426V	ENSP00000365931:A426V	A	+	2	0	SP2	43355544	0.957000	0.32711	0.889000	0.34880	0.998000	0.95712	4.297000	0.59061	2.826000	0.97356	0.655000	0.94253	GCA	SP2	-	NULL	ENSG00000167182		0.582	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1	134	0.00	0	C	NM_003110		46000545	46000545	+1	no_errors	ENST00000376741	ensembl	human	known	69_37n	missense	88	11.11	11	SNP	0.811	T
SP4	6671	genome.wustl.edu	37	7	21469810	21469810	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:21469810G>A	ENST00000222584.3	+	3	1245	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	343					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAGCTCAGCAGATACTGGCCA	0.502																																						dbGAP											0													111.0	81.0	91.0					7																	21469810		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1027G>A	7.37:g.21469810G>A	ENSP00000222584:p.Asp343Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D343N	ENST00000222584.3	37	c.1027	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965984	0.34659	.	.	ENSG00000105866	ENST00000222584	T	0.08720	3.06	4.94	4.94	0.65067	.	0.323197	0.32868	N	0.005542	T	0.04724	0.0128	N	0.02539	-0.55	0.47862	D	0.999539	B	0.23058	0.079	B	0.21546	0.035	T	0.51044	-0.8755	10	0.36615	T	0.2	.	18.3501	0.90336	0.0:0.0:1.0:0.0	.	343	Q02446	SP4_HUMAN	N	343	ENSP00000222584:D343N	ENSP00000222584:D343N	D	+	1	0	SP4	21436335	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	4.794000	0.62482	2.559000	0.86315	0.655000	0.94253	GAT	SP4	-	NULL	ENSG00000105866		0.502	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	45	0.00	0	G	NM_003112		21469810	21469810	+1	no_errors	ENST00000222584	ensembl	human	known	69_37n	missense	29	27.50	11	SNP	1.000	A
SPA17	53340	genome.wustl.edu	37	11	124545149	124545149	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:124545149C>A	ENST00000532692.1	+	0	1410				SPA17_ENST00000227135.2_5'UTR|SIAE_ENST00000525730.1_Intron|SIAE_ENST00000545756.1_5'Flank|SIAE_ENST00000263593.3_5'Flank			Q15506	SP17_HUMAN	sperm autoantigenic protein 17						binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		ATAGGCAGTTCTTACCAAGAA	0.378																																						dbGAP											0													92.0	90.0	91.0					11																	124545149		2201	4299	6500	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.-12C>A	11.37:g.124545149C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4F2|Q9BXF7	RNA	SNP	-	NULL	ENST00000532692.1	37	NULL	CCDS8450.1	11																																																																																			SPA17	-	-	ENSG00000064199		0.378	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	78	0.00	0	C	NM_017425		124545149	124545149	+1	no_errors	ENST00000529498	ensembl	human	known	69_37n	rna	67	17.07	14	SNP	0.996	A
SPACA1	81833	genome.wustl.edu	37	6	88763693	88763693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:88763693G>T	ENST00000237201.1	+	2	355	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	80					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAAAGAAGTAGAATTCGGAAT	0.353																																						dbGAP											0													91.0	87.0	88.0					6																	88763693		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.238G>T	6.37:g.88763693G>T	ENSP00000237201:p.Glu80*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E80*	ENST00000237201.1	37	c.238	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.010931	0.97200	.	.	ENSG00000118434	ENST00000237201	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.3264	18.6239	0.91331	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000237201:E80X	E	+	1	0	SPACA1	88820412	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.055000	0.71103	2.838000	0.97847	0.655000	0.94253	GAA	SPACA1	-	NULL	ENSG00000118434		0.353	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	208	0.48	1	G			88763693	88763693	+1	no_errors	ENST00000237201	ensembl	human	known	69_37n	nonsense	119	16.78	24	SNP	1.000	T
SPAG11A	653423	genome.wustl.edu	37	8	7718270	7718270	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:7718270C>T	ENST00000326625.5	+	2	211	c.158C>T	c.(157-159)tCt>tTt	p.S53F	SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000454911.2_3'UTR			Q6PDA7	SG11A_HUMAN	sperm associated antigen 11A	0						extracellular region (GO:0005576)				central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GACATTAGCTCTGATCCCTGG	0.438																																						dbGAP											0													65.0	40.0	49.0					8																	7718270		2128	4033	6161	-	-	-	SO:0001583	missense	0				CCDS43700.1	8p23.1	2009-09-12	2007-03-15		ENSG00000178287	ENSG00000178287			33342	protein-coding gene	gene with protein product	"""epididymal protein 2A"""						Standard	NM_001081552		Approved	HE2, EDDM2A		Q6PDA7	OTTHUMG00000162440	ENST00000326625.5:c.158C>T	8.37:g.7718270C>T	ENSP00000316648:p.Ser53Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIY0|E9PAK7	Missense_Mutation	SNP	pfam_Defensin_beta-typ	p.S53F	ENST00000326625.5	37	c.158		8	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533045	0.45073	.	.	ENSG00000178287	ENST00000326625	T	0.23754	1.89	2.28	2.28	0.28536	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.27362	N	0.955923	D	0.69078	0.997	D	0.87578	0.998	T	0.12760	-1.0535	8	0.62326	D	0.03	-14.5721	8.143	0.31095	0.0:1.0:0.0:0.0	.	106	C9JN37	.	F	53	ENSP00000316648:S53F	ENSP00000316648:S53F	S	+	2	0	SPAG11A	7755680	0.956000	0.32656	0.816000	0.32577	0.855000	0.48748	2.658000	0.46733	1.586000	0.49944	0.400000	0.26472	TCT	SPAG11A	-	pfam_Defensin_beta-typ	ENSG00000178287		0.438	SPAG11A-005	NOVEL	not_organism_supported|basic	protein_coding	SPAG11A	HGNC	protein_coding	OTTHUMT00000383802.1	263	0.00	0	C	NM_001081552		7718270	7718270	+1	no_errors	ENST00000326625	ensembl	human	novel	69_37n	missense	173	15.20	31	SNP	0.871	T
SPAG1	6674	genome.wustl.edu	37	8	101196183	101196183	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101196183G>T	ENST00000388798.2	+	6	679		c.e6-1		Y_RNA_ENST00000362797.1_RNA|SPAG1_ENST00000520508.1_Splice_Site|SPAG1_ENST00000520643.1_Splice_Site|SPAG1_ENST00000251809.3_Splice_Site	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1						axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTTCATTTAAGATTTGACGTG	0.279																																						dbGAP											0													50.0	51.0	51.0					8																	101196183		2199	4290	6489	-	-	-	SO:0001630	splice_region_variant	0			AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.489-1G>T	8.37:g.101196183G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Splice_Site	SNP	-	e5-1	ENST00000388798.2	37	c.489-1	CCDS34930.1	8	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852340	0.71719	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG1	101265359	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.704000	0.84595	2.665000	0.90641	0.561000	0.74099	.	SPAG1	-	-	ENSG00000104450		0.279	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG1	HGNC	protein_coding	OTTHUMT00000379853.2	148	0.00	0	G	NM_172218	Intron	101196183	101196183	+1	no_errors	ENST00000251809	ensembl	human	known	69_37n	splice_site	109	10.66	13	SNP	1.000	T
SPAG17	200162	genome.wustl.edu	37	1	118574470	118574470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:118574470C>A	ENST00000336338.5	-	25	3519	c.3454G>T	c.(3454-3456)Gaa>Taa	p.E1152*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1152						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1152K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATATTGTTTCTAAATCAGGA	0.328																																						dbGAP											1	Substitution - Missense(1)	lung(1)											96.0	90.0	92.0					1																	118574470		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3454G>T	1.37:g.118574470C>A	ENSP00000337804:p.Glu1152*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	NULL	p.E1152*	ENST00000336338.5	37	c.3454	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.249940	0.97412	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.52	5.52	0.82312	.	0.419940	0.25355	N	0.031271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	17.1883	0.86872	0.0:1.0:0.0:0.0	.	.	.	.	X	1152	.	ENSP00000337804:E1152X	E	-	1	0	SPAG17	118375993	1.000000	0.71417	0.854000	0.33618	0.027000	0.11550	4.417000	0.59822	2.587000	0.87381	0.655000	0.94253	GAA	SPAG17	-	NULL	ENSG00000155761		0.328	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	585	0.00	0	C	NM_206996		118574470	118574470	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	nonsense	328	28.70	132	SNP	0.997	A
SPAG17	200162	genome.wustl.edu	37	1	118581952	118581952	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:118581952C>A	ENST00000336338.5	-	23	3347	c.3282G>T	c.(3280-3282)gaG>gaT	p.E1094D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1094						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCTTCTTCCTCTTCTAAAT	0.383																																						dbGAP											0													131.0	132.0	132.0					1																	118581952		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3282G>T	1.37:g.118581952C>A	ENSP00000337804:p.Glu1094Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E1094D	ENST00000336338.5	37	c.3282	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609088	0.46527	.	.	ENSG00000155761	ENST00000336338	T	0.37915	1.17	5.24	-5.47	0.02600	.	0.163748	0.40469	N	0.001088	T	0.04452	0.0122	N	0.19112	0.55	0.09310	N	0.999997	B	0.12013	0.005	B	0.13407	0.009	T	0.30966	-0.9960	10	0.21014	T	0.42	.	1.9446	0.03354	0.2193:0.2483:0.0847:0.4477	.	1094	Q6Q759	SPG17_HUMAN	D	1094	ENSP00000337804:E1094D	ENSP00000337804:E1094D	E	-	3	2	SPAG17	118383475	0.001000	0.12720	0.025000	0.17156	0.280000	0.26924	-0.832000	0.04400	-0.670000	0.05282	0.609000	0.83330	GAG	SPAG17	-	NULL	ENSG00000155761		0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	658	0.15	1	C	NM_206996		118581952	118581952	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	missense	486	13.37	75	SNP	0.011	A
SPAG17	200162	genome.wustl.edu	37	1	118634279	118634279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:118634279G>A	ENST00000336338.5	-	10	1374	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	437						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AATTCCTCTCGAATTGGATTC	0.383																																						dbGAP											0													88.0	84.0	85.0					1																	118634279		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1309C>T	1.37:g.118634279G>A	ENSP00000337804:p.Arg437*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	NULL	p.R437*	ENST00000336338.5	37	c.1309	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.182446	0.98118	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.69	5.69	0.88448	.	0.048550	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.8212	0.96595	0.0:0.0:1.0:0.0	.	.	.	.	X	437	.	ENSP00000337804:R437X	R	-	1	2	SPAG17	118435802	1.000000	0.71417	0.991000	0.47740	0.817000	0.46193	5.849000	0.69465	2.689000	0.91719	0.650000	0.86243	CGA	SPAG17	-	NULL	ENSG00000155761		0.383	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	579	0.00	0	G	NM_206996		118634279	118634279	-1	no_errors	ENST00000336338	ensembl	human	known	69_37n	nonsense	325	17.72	70	SNP	1.000	A
SPAG5	10615	genome.wustl.edu	37	17	26919268	26919268	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:26919268G>T	ENST00000321765.5	-	3	1326	c.994C>A	c.(994-996)Ctt>Att	p.L332I		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	332					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCAGAGCCAAGAATCCTACCA	0.478																																						dbGAP											0													115.0	110.0	112.0					17																	26919268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.994C>A	17.37:g.26919268G>T	ENSP00000323300:p.Leu332Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.L332I	ENST00000321765.5	37	c.994	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	6.903	0.536092	0.13188	.	.	ENSG00000076382	ENST00000321765	T	0.45276	0.9	5.66	5.66	0.87406	.	0.464205	0.20447	N	0.092179	T	0.30823	0.0777	N	0.19112	0.55	0.09310	N	0.999999	B	0.34015	0.435	B	0.33620	0.167	T	0.16748	-1.0392	10	0.25106	T	0.35	-0.1793	16.481	0.84157	0.0:0.0:1.0:0.0	.	332	Q96R06	SPAG5_HUMAN	I	332	ENSP00000323300:L332I	ENSP00000323300:L332I	L	-	1	0	SPAG5	23943395	0.199000	0.23386	0.691000	0.30163	0.057000	0.15508	1.629000	0.37071	2.671000	0.90904	0.655000	0.94253	CTT	SPAG5	-	NULL	ENSG00000076382		0.478	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	108	0.00	0	G	NM_006461		26919268	26919268	-1	no_errors	ENST00000321765	ensembl	human	known	69_37n	missense	91	23.53	28	SNP	0.275	T
SPAG6	9576	genome.wustl.edu	37	10	22634686	22634686	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:22634686C>T	ENST00000376624.3	+	2	202	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SPAG6_ENST00000376603.2_Silent_p.F20F|SPAG6_ENST00000313311.6_Silent_p.F20F|SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376601.1_Silent_p.F20F	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	20					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GGACCCAGTTCGTGCAGATGG	0.672																																						dbGAP											0													44.0	38.0	40.0					10																	22634686		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.60C>T	10.37:g.22634686C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.F20	ENST00000376624.3	37	c.60	CCDS7139.1	10																																																																																			SPAG6	-	NULL	ENSG00000077327		0.672	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	77	0.00	0	C			22634686	22634686	+1	no_errors	ENST00000376603	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.998	T
SPAM1	6677	genome.wustl.edu	37	7	123593863	123593863	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:123593863G>A	ENST00000439500.1	+	4	852	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAM1_ENST00000402183.2_Missense_Mutation_p.R80Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R80Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R80Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R80Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	80					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGAAGCCCCCGAATAAACGCC	0.438																																						dbGAP											0													46.0	45.0	45.0					7																	123593863		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.239G>A	7.37:g.123593863G>A	ENSP00000402123:p.Arg80Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC30	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase	p.R80Q	ENST00000439500.1	37	c.239	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357500	0.41801	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	6.03	-8.53	0.00916	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.726570	0.03105	N	0.161716	T	0.10208	0.0250	L	0.38838	1.175	0.09310	N	1	P;P	0.35208	0.49;0.49	B;B	0.26770	0.073;0.073	T	0.19289	-1.0310	10	0.19147	T	0.46	-1.5592	3.2502	0.06811	0.4883:0.072:0.2171:0.2226	.	80;80	Q8TC30;P38567	.;HYALP_HUMAN	Q	80	ENSP00000386028:R80Q;ENSP00000391491:R80Q;ENSP00000417934:R80Q;ENSP00000345849:R80Q;ENSP00000402123:R80Q;ENSP00000223028:R80Q	ENSP00000223028:R80Q	R	+	2	0	SPAM1	123381099	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-1.254000	0.02874	-1.319000	0.02286	0.655000	0.94253	CGA	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20	ENSG00000106304		0.438	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	100	0.00	0	G			123593863	123593863	+1	no_errors	ENST00000340011	ensembl	human	known	69_37n	missense	77	11.36	10	SNP	0.000	A
SPANXN2	494119	genome.wustl.edu	37	X	142803695	142803695	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:142803695T>G	ENST00000370498.1	-	1	821	c.68A>C	c.(67-69)aAa>aCa	p.K23T		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	23										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCATCATTTTTTTTGTTATT	0.443																																						dbGAP											0													220.0	204.0	209.0					X																	142803695		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.68A>C	X.37:g.142803695T>G	ENSP00000359529:p.Lys23Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0ZNM2	Missense_Mutation	SNP	pfam_SPANX_prot	p.K23T	ENST00000370498.1	37	c.68	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	-	10.95	1.497100	0.26861	.	.	ENSG00000203924	ENST00000370498	T	0.07800	3.16	1.07	1.07	0.20283	.	.	.	.	.	T	0.16085	0.0387	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.60609	0.877	T	0.12656	-1.0539	9	0.40728	T	0.16	.	4.0784	0.09914	0.0:0.0:0.0:1.0	.	23	Q5MJ10	SPXN2_HUMAN	T	23	ENSP00000359529:K23T	ENSP00000359529:K23T	K	-	2	0	SPANXN2	142631361	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.283000	0.18846	0.683000	0.31428	0.227000	0.17789	AAA	SPANXN2	-	pfam_SPANX_prot	ENSG00000203924		0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	382	0.00	0	T	NM_001009615		142803695	142803695	-1	no_errors	ENST00000370498	ensembl	human	known	69_37n	missense	255	22.96	76	SNP	0.002	G
SPARCL1	8404	genome.wustl.edu	37	4	88416158	88416158	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:88416158G>A	ENST00000282470.6	-	3	646	c.176C>T	c.(175-177)tCc>tTc	p.S59F	SPARCL1_ENST00000418378.1_Missense_Mutation_p.S59F|SPARCL1_ENST00000503414.1_5'UTR	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	59					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GTCTTCTGTGGATACTGCTGT	0.368																																						dbGAP											0													129.0	138.0	135.0					4																	88416158		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.176C>T	4.37:g.88416158G>A	ENSP00000282470:p.Ser59Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.S59F	ENST00000282470.6	37	c.176	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604421	0.46423	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000509407;ENST00000434434;ENST00000535835;ENST00000512317;ENST00000543631	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.52	1.74	0.24563	.	0.937440	0.08904	N	0.876898	T	0.43787	0.1263	L	0.32530	0.975	0.09310	N	1	D;D	0.56521	0.976;0.976	P;P	0.51016	0.656;0.656	T	0.28933	-1.0028	10	0.72032	D	0.01	3.097	5.1118	0.14813	0.0991:0.0:0.5165:0.3844	.	59;59	Q8N4S1;Q14515	.;SPRL1_HUMAN	F	59	ENSP00000282470:S59F;ENSP00000414856:S59F;ENSP00000423483:S59F;ENSP00000416971:S59F;ENSP00000438188:S59F;ENSP00000423448:S59F;ENSP00000444832:S59F	ENSP00000282470:S59F	S	-	2	0	SPARCL1	88635182	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.553000	0.23391	0.358000	0.24211	0.655000	0.94253	TCC	SPARCL1	-	pirsf_SPARC-like_p1	ENSG00000152583		0.368	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	248	0.00	0	G			88416158	88416158	-1	no_errors	ENST00000282470	ensembl	human	known	69_37n	missense	137	17.47	29	SNP	0.000	A
SPATA13	221178	genome.wustl.edu	37	13	24798934	24798934	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:24798934G>A	ENST00000382095.4	+	2	185				SPATA13_ENST00000474317.1_Intron|SPATA13_ENST00000382108.3_Intron|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000424834.2_Intron	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GACAATGTACGAGATTCATTG	0.358																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-24681G>A	13.37:g.24798934G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	RNA	SNP	-	NULL	ENST00000382095.4	37	NULL	CCDS9305.1	13																																																																																			SPATA13	-	-	ENSG00000182957		0.358	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	153	0.00	0	G	NM_153023		24798934	24798934	+1	no_errors	ENST00000466831	ensembl	human	known	69_37n	rna	88	10.20	10	SNP	0.000	A
SPATA21	374955	genome.wustl.edu	37	1	16730261	16730261	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:16730261A>G	ENST00000335496.1	-	10	1444	c.962T>C	c.(961-963)aTg>aCg	p.M321T	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.M298T	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	321							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TAAGGCCAGCATCTCTACCAG	0.547																																						dbGAP											0													120.0	119.0	120.0					1																	16730261		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.962T>C	1.37:g.16730261A>G	ENSP00000335612:p.Met321Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK40|F5GXP5	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M321T	ENST00000335496.1	37	c.962	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654420	0.47467	.	.	ENSG00000187144	ENST00000491418;ENST00000335496;ENST00000540400	T;T;T	0.63580	0.93;-0.05;-0.04	4.84	4.84	0.62591	.	0.307311	0.29205	N	0.012826	T	0.48642	0.1511	L	0.32530	0.975	0.31083	N	0.711757	P;P	0.41848	0.763;0.651	B;B	0.39027	0.288;0.15	T	0.54589	-0.8271	10	0.27082	T	0.32	-0.7159	11.0266	0.47748	1.0:0.0:0.0:0.0	.	298;321	F5GXP5;Q7Z572	.;SPT21_HUMAN	T	29;321;298	ENSP00000420753:M29T;ENSP00000335612:M321T;ENSP00000440046:M298T	ENSP00000335612:M321T	M	-	2	0	SPATA21	16602848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.953000	0.56699	2.174000	0.68829	0.454000	0.30748	ATG	SPATA21	-	NULL	ENSG00000187144		0.547	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	109	0.00	0	A	NM_198546		16730261	16730261	-1	no_errors	ENST00000335496	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	G
SPATA5	166378	genome.wustl.edu	37	4	123855738	123855738	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:123855738G>T	ENST00000274008.4	+	5	1061	c.992G>T	c.(991-993)aGa>aTa	p.R331I	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	331					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCAACAACAAGAGTCAATTTT	0.338																																						dbGAP											0													37.0	39.0	38.0					4																	123855738		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.992G>T	4.37:g.123855738G>T	ENSP00000274008:p.Arg331Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.R331I	ENST00000274008.4	37	c.992	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874446	0.51695	.	.	ENSG00000145375	ENST00000274008	D	0.94613	-3.47	5.19	3.35	0.38373	.	0.109652	0.64402	D	0.000003	D	0.89487	0.6729	N	0.24115	0.695	0.44214	D	0.997042	P;B	0.42248	0.774;0.003	P;B	0.45167	0.472;0.012	D	0.86103	0.1557	10	0.30078	T	0.28	-34.0516	8.2626	0.31795	0.3782:0.0:0.6218:0.0	.	331;331	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	I	331	ENSP00000274008:R331I	ENSP00000274008:R331I	R	+	2	0	SPATA5	124075188	1.000000	0.71417	0.296000	0.24974	0.974000	0.67602	1.453000	0.35167	1.340000	0.45581	0.655000	0.94253	AGA	SPATA5	-	NULL	ENSG00000145375		0.338	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	52	0.00	0	G	NM_145207		123855738	123855738	+1	no_errors	ENST00000274008	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	0.662	T
SPATA9	83890	genome.wustl.edu	37	5	95018318	95018318	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:95018318C>T	ENST00000274432.8	-	2	205	c.64G>A	c.(64-66)Gag>Aag	p.E22K	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.E22K|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	22					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TGGATCCCCTCGACTAAGACA	0.353																																						dbGAP											0													92.0	94.0	94.0					5																	95018318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.64G>A	5.37:g.95018318C>T	ENSP00000274432:p.Glu22Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.E22K	ENST00000274432.8	37	c.64	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097065	0.76870	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.58506	0.33	4.7	4.7	0.59300	.	0.000000	0.46758	D	0.000262	T	0.63343	0.2503	L	0.27053	0.805	0.36375	D	0.861541	D	0.76494	0.999	D	0.78314	0.991	T	0.71991	-0.4425	10	0.87932	D	0	-21.7389	13.0112	0.58731	0.0:1.0:0.0:0.0	.	22	Q9BWV2	SPAT9_HUMAN	K	22	ENSP00000274432:E22K	ENSP00000274432:E22K	E	-	1	0	SPATA9	95044074	0.717000	0.27966	0.947000	0.38551	0.914000	0.54420	0.987000	0.29603	2.429000	0.82318	0.563000	0.77884	GAG	SPATA9	-	NULL	ENSG00000145757		0.353	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	258	0.00	0	C	NM_031952		95018318	95018318	-1	no_errors	ENST00000274432	ensembl	human	known	69_37n	missense	174	24.68	57	SNP	0.976	T
SPATA9	83890	genome.wustl.edu	37	5	95018514	95018514	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:95018514C>A	ENST00000274432.8	-	1	186	c.45G>T	c.(43-45)aaG>aaT	p.K15N	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.K15N|SPATA9_ENST00000477047.2_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	15					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CAGAAAAGTTCTTCAACACCT	0.458																																						dbGAP											0													146.0	138.0	141.0					5																	95018514		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.45G>T	5.37:g.95018514C>A	ENSP00000274432:p.Lys15Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.K15N	ENST00000274432.8	37	c.45	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648384	0.67358	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.54866	0.55	4.8	4.8	0.61643	.	0.000000	0.48767	D	0.000171	T	0.59500	0.2198	L	0.27053	0.805	0.36138	D	0.846561	D	0.76494	0.999	D	0.83275	0.996	T	0.68625	-0.5359	10	0.72032	D	0.01	-23.811	13.2272	0.59921	0.0:1.0:0.0:0.0	.	15	Q9BWV2	SPAT9_HUMAN	N	15	ENSP00000274432:K15N	ENSP00000274432:K15N	K	-	3	2	SPATA9	95044270	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.525000	0.35953	2.477000	0.83638	0.563000	0.77884	AAG	SPATA9	-	NULL	ENSG00000145757		0.458	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	311	0.00	0	C	NM_031952		95018514	95018514	-1	no_errors	ENST00000274432	ensembl	human	known	69_37n	missense	262	12.91	39	SNP	1.000	A
SPCS2	9789	genome.wustl.edu	37	11	74660424	74660424	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:74660424C>T	ENST00000263672.6	+	1	133	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	SPCS2_ENST00000530257.1_Missense_Mutation_p.R32C|XRRA1_ENST00000533598.1_5'Flank|SPCS2_ENST00000526361.1_5'UTR|XRRA1_ENST00000527087.1_5'Flank|SPCS2_ENST00000528265.1_Intron|XRRA1_ENST00000321448.8_5'Flank|XRRA1_ENST00000340360.6_5'Flank	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	32					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						AGGAAGTGGCCGTAGCGGCTT	0.642																																						dbGAP											0													70.0	110.0	98.0					11																	74660424		692	1591	2283	-	-	-	SO:0001583	missense	0			D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.94C>T	11.37:g.74660424C>T	ENSP00000263672:p.Arg32Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	pfam_SigPept_cplx_su2	p.R32C	ENST00000263672.6	37	c.94	CCDS44681.1	11	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756138	0.49362	.	.	ENSG00000118363	ENST00000263672;ENST00000530257;ENST00000532972	.	.	.	5.16	4.19	0.49359	.	0.180937	0.46758	D	0.000273	T	0.48572	0.1507	L	0.43152	1.355	0.46927	D	0.999255	D	0.76494	0.999	P	0.47528	0.549	T	0.51309	-0.8722	9	0.72032	D	0.01	-3.5558	10.4568	0.44555	0.1937:0.8062:0.0:0.0	.	32	Q15005	SPCS2_HUMAN	C	32	.	ENSP00000263672:R32C	R	+	1	0	SPCS2	74338072	0.999000	0.42202	1.000000	0.80357	0.775000	0.43874	1.016000	0.29976	2.840000	0.97914	0.655000	0.94253	CGT	SPCS2	-	NULL	ENSG00000118363		0.642	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPCS2	HGNC	protein_coding	OTTHUMT00000384587.1	972	0.00	0	C	NM_014752		74660424	74660424	+1	no_errors	ENST00000263672	ensembl	human	known	69_37n	missense	563	15.27	102	SNP	1.000	T
SPECC1	92521	genome.wustl.edu	37	17	20109051	20109051	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:20109051G>T	ENST00000261503.5	+	4	1740	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	SPECC1_ENST00000395529.3_Missense_Mutation_p.Q563H|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.Q482H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.Q482H|SPECC1_ENST00000395527.4_Missense_Mutation_p.Q563H|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395530.2_Missense_Mutation_p.Q482H	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	563					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTGAGAAGCAGAAAGCCACAG	0.463																																						dbGAP											0													72.0	74.0	73.0					17																	20109051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1689G>T	17.37:g.20109051G>T	ENSP00000261503:p.Gln563His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Q563H	ENST00000261503.5	37	c.1689	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590249	0.28357	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.68765	-0.35;2.64;2.67;2.66	5.59	-4.44	0.03557	.	0.051440	0.85682	D	0.000000	T	0.78142	0.4237	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.999;0.999;0.993	T	0.80113	-0.1518	10	0.72032	D	0.01	-8.0682	15.2975	0.73922	0.2408:0.0:0.7592:0.0	.	563;482;482;563;563	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	H	563;563;563;482;482;482	ENSP00000261503:Q563H;ENSP00000378900:Q563H;ENSP00000378893:Q482H;ENSP00000378896:Q482H	ENSP00000261503:Q563H	Q	+	3	2	SPECC1	20049643	0.887000	0.30362	0.440000	0.26846	0.035000	0.12851	-0.033000	0.12246	-0.652000	0.05408	-0.768000	0.03414	CAG	SPECC1	-	NULL	ENSG00000128487		0.463	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	92	0.00	0	G	NM_152904		20109051	20109051	+1	no_errors	ENST00000261503	ensembl	human	known	69_37n	missense	48	39.24	31	SNP	0.947	T
SPEF2	79925	genome.wustl.edu	37	5	35704661	35704661	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:35704661G>T	ENST00000356031.3	+	17	2558	c.2404G>T	c.(2404-2406)Gaa>Taa	p.E802*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.E797*|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.E797*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	802					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAGCTGAAGAATTGTCCTA	0.338																																						dbGAP											0													82.0	75.0	78.0					5																	35704661		1813	4068	5881	-	-	-	SO:0001587	stop_gained	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2404G>T	5.37:g.35704661G>T	ENSP00000348314:p.Glu802*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.E802*	ENST00000356031.3	37	c.2404	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168020	0.78339	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	.	.	.	5.76	2.47	0.30058	.	1.038050	0.07545	N	0.914468	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	7.7617	0.28957	0.1721:0.1406:0.6873:0.0	.	.	.	.	X	802;797;797;308	.	ENSP00000348314:E802X	E	+	1	0	SPEF2	35740418	0.044000	0.20184	0.477000	0.27303	0.015000	0.08874	0.295000	0.19065	0.730000	0.32425	0.591000	0.81541	GAA	SPEF2	-	NULL	ENSG00000152582		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	390	0.00	0	G	NM_144722		35704661	35704661	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	nonsense	181	26.32	65	SNP	0.027	T
SPEF2	79925	genome.wustl.edu	37	5	35795832	35795832	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:35795832G>T	ENST00000356031.3	+	33	4919	c.4765G>T	c.(4765-4767)Gat>Tat	p.D1589Y	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.D386Y|SPEF2_ENST00000440995.2_Missense_Mutation_p.D1584Y	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1589					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAGATGAAGATATAAAAAT	0.338																																						dbGAP											0													114.0	108.0	110.0					5																	35795832		1807	4066	5873	-	-	-	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4765G>T	5.37:g.35795832G>T	ENSP00000348314:p.Asp1589Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain	p.D1589Y	ENST00000356031.3	37	c.4765	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643283	0.29246	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.63255	-0.03;-0.03;-0.03	5.52	3.69	0.42338	.	0.420484	0.25065	N	0.033401	T	0.50650	0.1628	L	0.40543	1.245	0.34820	D	0.738549	B;B;B	0.19200	0.034;0.026;0.015	B;B;B	0.21708	0.036;0.015;0.006	T	0.59553	-0.7433	10	0.59425	D	0.04	.	7.9462	0.29987	0.1272:0.0:0.7234:0.1493	.	386;1584;1589	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	Y	1589;1584;386	ENSP00000348314:D1589Y;ENSP00000412125:D1584Y;ENSP00000303843:D386Y	ENSP00000303843:D386Y	D	+	1	0	SPEF2	35831589	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	1.668000	0.37481	1.455000	0.47813	0.467000	0.42956	GAT	SPEF2	-	NULL	ENSG00000152582		0.338	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	427	0.00	0	G	NM_144722		35795832	35795832	+1	no_errors	ENST00000356031	ensembl	human	known	69_37n	missense	293	13.82	47	SNP	0.985	T
SPEG	10290	genome.wustl.edu	37	2	220354580	220354580	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:220354580G>A	ENST00000312358.7	+	36	8972	c.8840G>A	c.(8839-8841)cGa>cAa	p.R2947Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2947	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGTCCCCGAAGCTCTCCC	0.657																																						dbGAP											0													33.0	35.0	34.0					2																	220354580		1885	4119	6004	-	-	-	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8840G>A	2.37:g.220354580G>A	ENSP00000311684:p.Arg2947Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R2947Q	ENST00000312358.7	37	c.8840	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	0.132	-1.112471	0.01799	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.65178	-0.14	3.37	0.461	0.16689	.	0.490163	0.15098	U	0.280696	T	0.34366	0.0895	N	0.08118	0	0.20563	N	0.999881	B	0.06786	0.001	B	0.01281	0.0	T	0.17561	-1.0365	10	0.17832	T	0.49	.	7.0045	0.24828	0.3358:0.3672:0.297:0.0	.	2947	Q15772	SPEG_HUMAN	Q	2947	ENSP00000311684:R2947Q	ENSP00000265327:R2947Q	R	+	2	0	SPEG	220062824	0.001000	0.12720	0.002000	0.10522	0.073000	0.16967	-0.290000	0.08354	-0.121000	0.11787	-0.252000	0.11476	CGA	SPEG	-	NULL	ENSG00000072195		0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	18	0.00	0	G	NM_005876		220354580	220354580	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	missense	13	23.53	4	SNP	0.034	A
SPEN	23013	genome.wustl.edu	37	1	16254645	16254645	+	Missense_Mutation	SNP	G	G	A	rs149954308	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:16254645G>A	ENST00000375759.3	+	11	2114	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	637	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R637Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAGTGTTCGAACTCCAGGC	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		20474	0.0		0.002	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											87.0	89.0	88.0					1																	16254645		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1910G>A	1.37:g.16254645G>A	ENSP00000364912:p.Arg637Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R637Q	ENST00000375759.3	37	c.1910	CCDS164.1	1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	21.0	4.088451	0.76756	.	.	ENSG00000065526	ENST00000375759	T	0.13196	2.61	4.54	4.54	0.55810	.	.	.	.	.	T	0.28400	0.0702	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.02950	-1.1090	9	0.59425	D	0.04	-12.3588	17.8431	0.88720	0.0:0.0:1.0:0.0	.	637	Q96T58	MINT_HUMAN	Q	637	ENSP00000364912:R637Q	ENSP00000364912:R637Q	R	+	2	0	SPEN	16127232	0.999000	0.42202	0.975000	0.42487	0.910000	0.53928	9.146000	0.94640	2.514000	0.84764	0.563000	0.77884	CGA	SPEN	-	NULL	ENSG00000065526		0.423	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	107	0.00	0	G	NM_015001		16254645	16254645	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	0.996	A
SPEN	23013	genome.wustl.edu	37	1	16257359	16257359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:16257359C>T	ENST00000375759.3	+	11	4828	c.4624C>T	c.(4624-4626)Cga>Tga	p.R1542*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1542					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATTCCAAGCGATTGCAGCA	0.418																																						dbGAP											0													91.0	98.0	96.0					1																	16257359		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4624C>T	1.37:g.16257359C>T	ENSP00000364912:p.Arg1542*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R1542*	ENST00000375759.3	37	c.4624	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.570665	0.99429	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.03	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4111	13.9565	0.64152	0.2753:0.7247:0.0:0.0	.	.	.	.	X	1542	.	ENSP00000364912:R1542X	R	+	1	2	SPEN	16129946	1.000000	0.71417	0.971000	0.41717	0.953000	0.61014	2.233000	0.43027	0.629000	0.30376	0.563000	0.77884	CGA	SPEN	-	NULL	ENSG00000065526		0.418	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	377	0.00	0	C	NM_015001		16257359	16257359	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	nonsense	233	22.00	66	SNP	1.000	T
SPG20	23111	genome.wustl.edu	37	13	36888569	36888569	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:36888569G>T	ENST00000451493.1	-	6	1506				SPG20_ENST00000494062.2_Intron|SPG20_ENST00000438666.2_Intron|SPG20_ENST00000355182.4_Intron	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTTTTTAAAAGAAAATTTAAA	0.353																																						dbGAP											0													49.0	50.0	50.0					13																	36888569		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1289-11C>A	13.37:g.36888569G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60349|Q86Y67|Q9H1T2|Q9H1T3	RNA	SNP	-	NULL	ENST00000451493.1	37	NULL	CCDS9356.1	13																																																																																			SPG20	-	-	ENSG00000133104		0.353	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	207	0.00	0	G			36888569	36888569	-1	no_errors	ENST00000482146	ensembl	human	known	69_37n	rna	123	26.35	44	SNP	0.280	T
SPHKAP	80309	genome.wustl.edu	37	2	228846573	228846573	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:228846573G>T	ENST00000392056.3	-	12	5009	c.4963C>A	c.(4963-4965)Cta>Ata	p.L1655I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1626I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1655						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACGACATCTAGAAACTAAAAT	0.502																																						dbGAP											0													64.0	62.0	63.0					2																	228846573		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4963C>A	2.37:g.228846573G>T	ENSP00000375909:p.Leu1655Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.L1655I	ENST00000392056.3	37	c.4963	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033436	0.75504	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.08896	3.04;3.04	5.85	5.85	0.93711	A-kinase anchor 110kDa, C-terminal (1);	0.150720	0.45867	D	0.000337	T	0.20333	0.0489	L	0.41356	1.27	0.44880	D	0.997891	D;D	0.89917	1.0;0.981	D;P	0.83275	0.996;0.833	T	0.00267	-1.1863	10	0.36615	T	0.2	.	14.395	0.67005	0.0725:0.0:0.9275:0.0	.	1655;1626	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	1655;1626	ENSP00000375909:L1655I;ENSP00000339886:L1626I	ENSP00000339886:L1626I	L	-	1	2	SPHKAP	228554817	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.111000	0.41883	2.773000	0.95371	0.655000	0.94253	CTA	SPHKAP	-	pfam_AKAP_110_C	ENSG00000153820		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	85	0.00	0	G	NM_030623		228846573	228846573	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	65	26.97	24	SNP	1.000	T
SPHKAP	80309	genome.wustl.edu	37	2	228881446	228881446	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:228881446G>T	ENST00000392056.3	-	7	4170	c.4124C>A	c.(4123-4125)tCt>tAt	p.S1375Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1375Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1375						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGGTAACAGAGTCTTTCCT	0.473																																						dbGAP											0													75.0	77.0	76.0					2																	228881446		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4124C>A	2.37:g.228881446G>T	ENSP00000375909:p.Ser1375Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.S1375Y	ENST00000392056.3	37	c.4124	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	6.760	0.509167	0.12883	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13657	2.57;2.57	5.14	4.26	0.50523	.	0.762302	0.12875	N	0.431945	T	0.16557	0.0398	L	0.60455	1.87	0.09310	N	1	B;P;B	0.45902	0.009;0.868;0.134	B;P;B	0.45506	0.004;0.483;0.045	T	0.24333	-1.0163	10	0.54805	T	0.06	.	3.8653	0.09013	0.0875:0.15:0.5856:0.1769	.	406;1375;1375	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Y	1375	ENSP00000375909:S1375Y;ENSP00000339886:S1375Y	ENSP00000339886:S1375Y	S	-	2	0	SPHKAP	228589690	0.018000	0.18449	0.028000	0.17463	0.186000	0.23388	0.399000	0.20916	1.387000	0.46486	0.655000	0.94253	TCT	SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	57	0.00	0	G	NM_030623		228881446	228881446	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.002	T
SPHKAP	80309	genome.wustl.edu	37	2	228881964	228881964	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:228881964G>A	ENST00000392056.3	-	7	3652	c.3606C>T	c.(3604-3606)atC>atT	p.I1202I	SPHKAP_ENST00000344657.5_Silent_p.I1202I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1202						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTCTCTTTCGATGTCCCTCA	0.567																																						dbGAP											0													103.0	101.0	102.0					2																	228881964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3606C>T	2.37:g.228881964G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.I1202	ENST00000392056.3	37	c.3606	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	49	0.00	0	G	NM_030623		228881964	228881964	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.025	A
SPI1	6688	genome.wustl.edu	37	11	47381533	47381533	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:47381533C>A	ENST00000378538.3	-	3	423	c.201G>T	c.(199-201)gaG>gaT	p.E67D	SPI1_ENST00000227163.4_Missense_Mutation_p.E68D|SPI1_ENST00000533030.1_Intron|SPI1_ENST00000533968.1_Missense_Mutation_p.E67D	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	67					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TGAAGTTGTTCTCGGCGAAGC	0.627																																						dbGAP											0													45.0	40.0	42.0					11																	47381533		2201	4297	6498	-	-	-	SO:0001583	missense	0			X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.201G>T	11.37:g.47381533C>A	ENSP00000367799:p.Glu67Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E68D	ENST00000378538.3	37	c.204	CCDS7933.2	11	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281409	0.23392	.	.	ENSG00000066336	ENST00000378538;ENST00000227163;ENST00000533968	T;T;T	0.32753	1.44;1.44;1.44	3.59	3.59	0.41128	.	0.112593	0.64402	D	0.000014	T	0.16557	0.0398	N	0.17631	0.505	0.37111	D	0.900342	B;B;B	0.19200	0.034;0.001;0.024	B;B;B	0.21360	0.023;0.005;0.034	T	0.11991	-1.0565	10	0.21014	T	0.42	-27.7599	6.5312	0.22328	0.3002:0.4463:0.2535:0.0	.	67;67;68	F5H3K6;P17947;P17947-2	.;SPI1_HUMAN;.	D	67;68;67	ENSP00000367799:E67D;ENSP00000227163:E68D;ENSP00000438846:E67D	ENSP00000227163:E68D	E	-	3	2	SPI1	47338109	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.845000	0.39279	1.985000	0.57927	0.655000	0.94253	GAG	SPI1	-	NULL	ENSG00000066336		0.627	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPI1	HGNC	protein_coding	OTTHUMT00000316571.1	101	0.00	0	C	NM_003120		47381533	47381533	-1	no_errors	ENST00000227163	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	1.000	A
SPIC	121599	genome.wustl.edu	37	12	101880208	101880208	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:101880208A>G	ENST00000551346.1	+	6	565	c.406A>G	c.(406-408)Acc>Gcc	p.T136A	SPIC_ENST00000299272.5_Missense_Mutation_p.T136A			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	136					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GGTAGATAAAACCAAAGGCAT	0.408																																						dbGAP											0													74.0	76.0	75.0					12																	101880208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.406A>G	12.37:g.101880208A>G	ENSP00000448580:p.Thr136Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.T136A	ENST00000551346.1	37	c.406	CCDS9082.1	12	.	.	.	.	.	.	.	.	.	.	A	3.822	-0.037539	0.07497	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.54071	0.59;0.59	4.69	-1.85	0.07784	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.833572	0.11580	N	0.549888	T	0.19967	0.0480	N	0.04508	-0.205	0.19575	N	0.999965	B	0.02656	0.0	B	0.06405	0.002	T	0.15492	-1.0435	10	0.19147	T	0.46	-1.2159	0.1979	0.00141	0.2525:0.2483:0.1614:0.3378	.	136	Q8N5J4	SPIC_HUMAN	A	136	ENSP00000448580:T136A;ENSP00000299272:T136A	ENSP00000299272:T136A	T	+	1	0	SPIC	100404339	0.462000	0.25791	0.300000	0.25030	0.948000	0.59901	0.754000	0.26390	0.060000	0.16281	-0.336000	0.08194	ACC	SPIC	-	pfam_Ets,smart_Ets,pfscan_Ets	ENSG00000166211		0.408	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIC	HGNC	protein_coding	OTTHUMT00000408260.1	157	0.00	0	A	NM_152323		101880208	101880208	+1	no_errors	ENST00000299272	ensembl	human	known	69_37n	missense	125	14.86	22	SNP	0.511	G
SPICE1	152185	genome.wustl.edu	37	3	113187238	113187238	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:113187238C>T	ENST00000295872.4	-	10	1162	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	301					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.P301P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CATGCAAATTCGGTTTCCTTT	0.363																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											88.0	92.0	90.0					3																	113187238		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.903G>A	3.37:g.113187238C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN72|Q8WUX6	Silent	SNP	NULL	p.P301	ENST00000295872.4	37	c.903	CCDS2973.1	3																																																																																			SPICE1	-	NULL	ENSG00000163611		0.363	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPICE1	HGNC	protein_coding	OTTHUMT00000354177.2	39	0.00	0	C	NM_144718		113187238	113187238	-1	no_errors	ENST00000295872	ensembl	human	known	69_37n	silent	38	11.63	5	SNP	0.346	T
SPINK5	11005	genome.wustl.edu	37	5	147503414	147503414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:147503414C>T	ENST00000256084.7	+	27	2599	c.2557C>T	c.(2557-2559)Cga>Tga	p.R853*	SPINK5_ENST00000398454.1_Nonsense_Mutation_p.R853*|SPINK5_ENST00000359874.3_Nonsense_Mutation_p.R853*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	853	Kazal-like 13. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGAATTTCGAAGCATGCA	0.388																																						dbGAP											0													90.0	88.0	89.0					5																	147503414		1880	4119	5999	-	-	-	SO:0001587	stop_gained	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2557C>T	5.37:g.147503414C>T	ENSP00000256084:p.Arg853*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.R853*	ENST00000256084.7	37	c.2557	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536244	0.85812	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	.	.	.	4.36	4.36	0.52297	.	0.171424	0.28156	N	0.016399	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-8.7505	12.6923	0.56982	0.0:1.0:0.0:0.0	.	.	.	.	X	853;853;834;853	.	ENSP00000256084:R853X	R	+	1	2	SPINK5	147483607	0.986000	0.35501	1.000000	0.80357	0.123000	0.20343	1.703000	0.37846	2.726000	0.93360	0.585000	0.79938	CGA	SPINK5	-	smart_Prot_inh_Kazal	ENSG00000133710		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	263	0.00	0	C	NM_001127698		147503414	147503414	+1	no_errors	ENST00000359874	ensembl	human	known	69_37n	nonsense	166	10.27	19	SNP	1.000	T
SPINT1	6692	genome.wustl.edu	37	15	41145375	41145375	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:41145375G>A	ENST00000344051.4	+	3	763	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	SPINT1_ENST00000431806.1_Missense_Mutation_p.E177K|SPINT1_ENST00000562057.1_Missense_Mutation_p.E177K			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	177					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ACAACCCCAGGAACCCCTGGT	0.567																																						dbGAP											0													156.0	147.0	150.0					15																	41145375		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.529G>A	15.37:g.41145375G>A	ENSP00000342098:p.Glu177Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.E177K	ENST00000344051.4	37	c.529	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066023	0.55539	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95821	-3.8;-3.82	5.33	4.41	0.53225	.	0.267666	0.41605	N	0.000843	D	0.92698	0.7679	L	0.48362	1.52	0.45183	D	0.998199	B;B;B	0.31383	0.125;0.321;0.125	B;B;B	0.34873	0.026;0.191;0.038	D	0.90091	0.4177	10	0.36615	T	0.2	-13.2252	11.0883	0.48099	0.0891:0.0:0.9109:0.0	.	177;177;177	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	K	177;144;177	ENSP00000342098:E177K;ENSP00000409935:E177K	ENSP00000342098:E177K	E	+	1	0	SPINT1	38932667	1.000000	0.71417	0.971000	0.41717	0.751000	0.42716	3.554000	0.53720	1.207000	0.43291	0.561000	0.74099	GAA	SPINT1	-	NULL	ENSG00000166145		0.567	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	303	0.00	0	G	NM_003710		41145375	41145375	+1	no_errors	ENST00000344051	ensembl	human	known	69_37n	missense	221	14.62	38	SNP	1.000	A
SPNS1	83985	genome.wustl.edu	37	16	28993331	28993331	+	Missense_Mutation	SNP	G	G	A	rs142031734		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:28993331G>A	ENST00000311008.11	+	7	1296	c.919G>A	c.(919-921)Gag>Aag	p.E307K	SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000565975.1_Missense_Mutation_p.E352K|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000323081.8_Missense_Mutation_p.E234K|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000561868.1_Intron	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	307					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGTCCTTGGGGAGACCCCACC	0.667											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													85.0	75.0	78.0					16																	28993331		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.919G>A	16.37:g.28993331G>A	ENSP00000309945:p.Glu307Lys	Somatic	806	WXS	Illumina GAIIx	Phase_IV	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E307K	ENST00000311008.11	37	c.919	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939545	0.52972	.	.	ENSG00000169682	ENST00000311008;ENST00000323081	T;T	0.57595	0.39;0.39	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.138350	0.48286	D	0.000188	T	0.24236	0.0587	N	0.04297	-0.235	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.14023	0.003;0.01	T	0.18085	-1.0348	10	0.06099	T	0.92	.	8.7679	0.34713	0.1004:0.0:0.8996:0.0	.	234;307	Q9H2V7-4;Q9H2V7	.;SPNS1_HUMAN	K	307;234	ENSP00000309945:E307K;ENSP00000318228:E234K	ENSP00000309945:E307K	E	+	1	0	SPNS1	28900832	0.881000	0.30235	1.000000	0.80357	0.953000	0.61014	1.268000	0.33062	2.456000	0.83038	0.563000	0.77884	GAG	SPNS1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000169682		0.667	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	137	0.00	0	G	NM_032038		28993331	28993331	+1	no_errors	ENST00000311008	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	0.998	A
SPOCK1	6695	genome.wustl.edu	37	5	136315029	136315029	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:136315029A>G	ENST00000394945.1	-	10	1290	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	SPOCK1_ENST00000282223.7_Missense_Mutation_p.V374A|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	374	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCACAGCTCACAGCACCCTG	0.557																																						dbGAP											0													173.0	159.0	164.0					5																	136315029		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1121T>C	5.37:g.136315029A>G	ENSP00000378401:p.Val374Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.V374A	ENST00000394945.1	37	c.1121	CCDS4191.1	5	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439483	0.25900	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.63096	-0.02;-0.02	5.25	5.25	0.73442	Thyroglobulin type-1 (5);	0.143577	0.49305	D	0.000156	T	0.22437	0.0541	N	0.00339	-1.615	0.41081	D	0.985529	B	0.21905	0.062	B	0.21151	0.033	T	0.34428	-0.9829	10	0.07030	T	0.85	.	8.9432	0.35742	0.9172:0.0:0.0828:0.0	.	374	Q08629	TICN1_HUMAN	A	374	ENSP00000378401:V374A;ENSP00000282223:V374A	ENSP00000282223:V374A	V	-	2	0	SPOCK1	136342928	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	7.303000	0.78871	1.967000	0.57214	0.528000	0.53228	GTG	SPOCK1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000152377		0.557	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	369	0.00	0	A	NM_004598		136315029	136315029	-1	no_errors	ENST00000282223	ensembl	human	known	69_37n	missense	197	24.05	63	SNP	0.991	G
SPRED1	161742	genome.wustl.edu	37	15	38614451	38614451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:38614451G>T	ENST00000299084.4	+	3	1077	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	73	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGTGGTTTTGGAATGTATGCT	0.333									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	dbGAP											0													78.0	83.0	82.0					15																	38614451		2200	4297	6497	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.217G>T	15.37:g.38614451G>T	ENSP00000299084:p.Glu73*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPJ8|Q05D53|Q8N256	Nonsense_Mutation	SNP	pfam_Sprouty,pfam_EVH1,smart_EVH1,pfscan_EVH1	p.E73*	ENST00000299084.4	37	c.217	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.673953	0.96764	.	.	ENSG00000166068	ENST00000299084	.	.	.	5.93	5.93	0.95920	.	0.043532	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-11.2266	20.3334	0.98727	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000299084:E73X	E	+	1	0	SPRED1	36401743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.818000	0.97014	0.591000	0.81541	GAA	SPRED1	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000166068		0.333	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	160	0.62	1	G			38614451	38614451	+1	no_errors	ENST00000299084	ensembl	human	known	69_37n	nonsense	113	16.91	23	SNP	1.000	T
SPRR2B	6701	genome.wustl.edu	37	1	153043216	153043216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:153043216C>A	ENST00000368755.2	-	1	100	c.100G>T	c.(100-102)Gag>Tag	p.E34*	SPRR2B_ENST00000341611.2_Nonsense_Mutation_p.E34*|SPRR2B_ENST00000368752.4_Nonsense_Mutation_p.E34*			P35325	SPR2B_HUMAN	small proline-rich protein 2B	34	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCAGGGCTCAGGGCACTTC	0.612																																						dbGAP											0													52.0	49.0	50.0					1																	153043216		2202	4278	6480	-	-	-	SO:0001587	stop_gained	0			AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.100G>T	1.37:g.153043216C>A	ENSP00000357744:p.Glu34*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T528	Nonsense_Mutation	SNP	NULL	p.E34*	ENST00000368755.2	37	c.100	CCDS30865.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032690	0.75504	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	.	.	.	3.73	1.75	0.24633	.	0.000000	0.33309	N	0.005044	.	.	.	.	.	.	0.35251	D	0.778655	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2023	0.43092	0.0:0.6091:0.3909:0.0	.	.	.	.	X	34	.	ENSP00000340703:E34X	E	-	1	0	SPRR2B	151309840	0.496000	0.26059	0.007000	0.13788	0.641000	0.38312	0.757000	0.26433	0.156000	0.19299	-0.485000	0.04761	GAG	SPRR2B	-	NULL	ENSG00000196805		0.612	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2B	HGNC	protein_coding	OTTHUMT00000038905.2	605	0.00	0	C			153043216	153043216	-1	no_errors	ENST00000341611	ensembl	human	known	69_37n	nonsense	420	11.95	57	SNP	0.458	A
SPRY1	10252	genome.wustl.edu	37	4	124322751	124322751	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:124322751A>G	ENST00000394339.2	+	2	345	c.5A>G	c.(4-6)gAt>gGt	p.D2G	SPRY1_ENST00000339241.1_Missense_Mutation_p.D2G	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	2					epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTACACATGGATCCCCAAAAT	0.418																																						dbGAP											0													158.0	166.0	163.0					4																	124322751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.5A>G	4.37:g.124322751A>G	ENSP00000377871:p.Asp2Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNX6|Q6PNE0	Missense_Mutation	SNP	pfam_Sprouty	p.D2G	ENST00000394339.2	37	c.5	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063133	0.36373	.	.	ENSG00000164056	ENST00000505319;ENST00000339241;ENST00000507703;ENST00000394339;ENST00000508849	T;T;T	0.57273	0.41;1.39;0.41	4.78	4.78	0.61160	.	0.234273	0.38548	N	0.001652	T	0.46308	0.1386	L	0.40543	1.245	0.50467	D	0.999877	B	0.16603	0.018	B	0.19391	0.025	T	0.47636	-0.9102	10	0.87932	D	0	-13.9002	14.1842	0.65595	1.0:0.0:0.0:0.0	.	2	O43609	SPY1_HUMAN	G	2	ENSP00000343785:D2G;ENSP00000421036:D2G;ENSP00000377871:D2G	ENSP00000343785:D2G	D	+	2	0	SPRY1	124542201	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.467000	0.73547	2.009000	0.58944	0.459000	0.35465	GAT	SPRY1	-	NULL	ENSG00000164056		0.418	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	221	0.00	0	A			124322751	124322751	+1	no_errors	ENST00000339241	ensembl	human	known	69_37n	missense	121	10.37	14	SNP	1.000	G
SPRY1	10252	genome.wustl.edu	37	4	124323317	124323317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:124323317G>T	ENST00000394339.2	+	2	911	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	SPRY1_ENST00000339241.1_Nonsense_Mutation_p.E191*	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	191	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CAAGTGTGGAGAATGCACTGC	0.512																																						dbGAP											0													176.0	147.0	157.0					4																	124323317		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.571G>T	4.37:g.124323317G>T	ENSP00000377871:p.Glu191*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNX6|Q6PNE0	Nonsense_Mutation	SNP	pfam_Sprouty	p.E191*	ENST00000394339.2	37	c.571	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.748533	0.96882	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	.	.	.	5.06	5.06	0.68205	.	0.127376	0.51477	D	0.000094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0101	18.2393	0.89961	0.0:0.0:1.0:0.0	.	.	.	.	X	191	.	.	E	+	1	0	SPRY1	124542767	1.000000	0.71417	0.884000	0.34674	0.992000	0.81027	8.859000	0.92264	2.622000	0.88805	0.561000	0.74099	GAA	SPRY1	-	pfam_Sprouty	ENSG00000164056		0.512	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	217	0.00	0	G			124323317	124323317	+1	no_errors	ENST00000339241	ensembl	human	known	69_37n	nonsense	98	31.94	46	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131370243	131370243	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:131370243T>G	ENST00000372731.4	+	33	4369	c.4259T>G	c.(4258-4260)cTt>cGt	p.L1420R	SPTAN1_ENST00000358161.5_Missense_Mutation_p.L1420R|SPTAN1_ENST00000372739.3_Missense_Mutation_p.L1420R	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1420					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGCAGAAACTTGATATTCTT	0.547																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													80.0	83.0	82.0					9																	131370243		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4259T>G	9.37:g.131370243T>G	ENSP00000361816:p.Leu1420Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.L1420R	ENST00000372731.4	37	c.4259	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444690	0.83993	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.56444	0.46;0.46;0.46	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.983;0.997;0.998	D	0.85481	0.1179	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	1400;1420;1420	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	R	1420;1420;1420;1400	ENSP00000350882:L1420R;ENSP00000361816:L1420R;ENSP00000361824:L1420R	ENSP00000350882:L1420R	L	+	2	0	SPTAN1	130410064	1.000000	0.71417	0.942000	0.38095	0.870000	0.49936	7.997000	0.88414	2.308000	0.77769	0.533000	0.62120	CTT	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.547	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	145	0.00	0	T	NM_003127		131370243	131370243	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	140	15.15	25	SNP	1.000	G
SPTBN2	6712	genome.wustl.edu	37	11	66481105	66481105	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:66481105C>T	ENST00000533211.1	-	8	1100	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E257K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E257K			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	257	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCCCACCTTCGGGATCCAGC	0.512																																						dbGAP											0													141.0	138.0	139.0					11																	66481105		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.769G>A	11.37:g.66481105C>T	ENSP00000432568:p.Glu257Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.E257K	ENST00000533211.1	37	c.769	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804353	0.70682	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.68181	-0.31;-0.31;-0.31	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.83459	0.5259	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86443	0.1768	10	0.87932	D	0	.	16.9451	0.86228	0.0:1.0:0.0:0.0	.	257	O15020	SPTN2_HUMAN	K	257	ENSP00000432568:E257K;ENSP00000311489:E257K;ENSP00000433593:E257K	ENSP00000311489:E257K	E	-	1	0	SPTBN2	66237681	1.000000	0.71417	0.983000	0.44433	0.322000	0.28314	7.604000	0.82830	2.521000	0.84997	0.557000	0.71058	GAA	SPTBN2	-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000173898		0.512	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	66	0.00	0	C	NM_006946		66481105	66481105	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	1.000	T
SPTBN5	51332	genome.wustl.edu	37	15	42182386	42182386	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42182386G>A	ENST00000320955.6	-	4	629	c.402C>T	c.(400-402)atC>atT	p.I134I	RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.6_ENST00000564432.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	134	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTCTGGCCCGATGAGTGGTA	0.562																																						dbGAP											0													102.0	105.0	104.0					15																	42182386		2066	4207	6273	-	-	-	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.402C>T	15.37:g.42182386G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.I134	ENST00000320955.6	37	c.402		15																																																																																			SPTBN5	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000137877		0.562	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	185	0.00	0	G	NM_016642		42182386	42182386	-1	no_errors	ENST00000320955	ensembl	human	known	69_37n	silent	100	28.37	40	SNP	0.889	A
SPTLC2	9517	genome.wustl.edu	37	14	77978689	77978689	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:77978689G>A	ENST00000216484.2	-	12	1820	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	543					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GGTACCAACCGATGACGGGAA	0.483																																						dbGAP											0													161.0	143.0	149.0					14																	77978689		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1627C>T	14.37:g.77978689G>A	ENSP00000216484:p.Arg543Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R543W	ENST00000216484.2	37	c.1627	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	G	30	5.053916	0.93793	.	.	ENSG00000100596	ENST00000216484	D	0.95412	-3.7	5.56	5.56	0.83823	.	0.268920	0.36002	N	0.002852	D	0.92247	0.7541	N	0.08118	0	0.58432	D	0.999998	D	0.71674	0.998	P	0.50192	0.634	D	0.92601	0.6091	10	0.37606	T	0.19	-13.3986	19.5768	0.95447	0.0:0.0:1.0:0.0	.	543	O15270	SPTC2_HUMAN	W	543	ENSP00000216484:R543W	ENSP00000216484:R543W	R	-	1	2	SPTLC2	77048442	1.000000	0.71417	0.949000	0.38748	0.800000	0.45204	5.949000	0.70257	2.617000	0.88574	0.644000	0.83932	CGG	SPTLC2	-	NULL	ENSG00000100596		0.483	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	411	0.00	0	G	NM_004863		77978689	77978689	-1	no_errors	ENST00000216484	ensembl	human	known	69_37n	missense	339	14.39	57	SNP	0.998	A
SPTY2D1	144108	genome.wustl.edu	37	11	18633886	18633886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18633886C>A	ENST00000336349.5	-	4	2096	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	SPTY2D1-AS1_ENST00000501599.2_RNA	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	621										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCAAAGATTTCTCTAATGTGC	0.328																																						dbGAP											0													126.0	125.0	125.0					11																	18633886		2199	4293	6492	-	-	-	SO:0001587	stop_gained	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1861G>T	11.37:g.18633886C>A	ENSP00000337991:p.Glu621*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.E621*	ENST00000336349.5	37	c.1861	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.782451	0.98486	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.84	4.93	0.64822	.	0.046273	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.561	17.08	0.86596	0.0:0.8731:0.1269:0.0	.	.	.	.	X	621	.	ENSP00000337991:E621X	E	-	1	0	SPTY2D1	18590462	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.818000	0.86416	1.457000	0.47850	-0.165000	0.13383	GAA	SPTY2D1	-	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	ENSG00000179119		0.328	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	183	0.54	1	C	NM_194285		18633886	18633886	-1	no_errors	ENST00000336349	ensembl	human	known	69_37n	nonsense	141	17.54	30	SNP	1.000	A
SPTY2D1	144108	genome.wustl.edu	37	11	18638427	18638427	+	Missense_Mutation	SNP	C	C	T	rs200478855		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18638427C>T	ENST00000336349.5	-	2	405	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	57										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CATACCTTTTCGTCTCAGCTC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		17716	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													143.0	132.0	136.0					11																	18638427		2198	4293	6491	-	-	-	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.170G>A	11.37:g.18638427C>T	ENSP00000337991:p.Arg57Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.R57Q	ENST00000336349.5	37	c.170	CCDS31441.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.60	2.583597	0.46006	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.21031	2.03	5.54	-11.1	0.00147	.	0.350989	0.27826	N	0.017681	T	0.05318	0.0141	N	0.00841	-1.15	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32798	-0.9893	10	0.24483	T	0.36	1.7733	20.0497	0.97621	0.0:0.6605:0.0:0.3395	.	57	Q68D10	SPT2_HUMAN	Q	57	ENSP00000337991:R57Q	ENSP00000331447:R57Q	R	-	2	0	SPTY2D1	18595003	0.000000	0.05858	0.001000	0.08648	0.775000	0.43874	-1.438000	0.02416	-2.697000	0.00400	-0.290000	0.09829	CGA	SPTY2D1	-	NULL	ENSG00000179119		0.388	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	292	0.34	1	C	NM_194285		18638427	18638427	-1	no_errors	ENST00000336349	ensembl	human	known	69_37n	missense	173	25.75	60	SNP	0.001	T
SQLE	6713	genome.wustl.edu	37	8	126015523	126015523	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:126015523G>A	ENST00000265896.5	+	2	1295	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	SQLE_ENST00000523430.1_Missense_Mutation_p.V38M	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	133					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GGGAGCTGGCGTGCTTGGCTC	0.438																																						dbGAP											0													107.0	108.0	108.0					8																	126015523		1958	4157	6115	-	-	-	SO:0001583	missense	0			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.397G>A	8.37:g.126015523G>A	ENSP00000265896:p.Val133Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.V133M	ENST00000265896.5	37	c.397	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753699	0.49362	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000521232	T;T;T	0.51071	0.95;0.95;0.72	5.26	1.31	0.21738	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Aromatic-ring hydroxylase-like (1);	0.165665	0.52532	D	0.000064	T	0.53384	0.1793	L	0.32530	0.975	0.58432	D	0.999999	D	0.71674	0.998	D	0.65233	0.933	T	0.53394	-0.8445	10	0.66056	D	0.02	-5.9945	13.7765	0.63057	0.0947:0.0:0.9053:0.0	.	133	Q14534	ERG1_HUMAN	M	38;133;75	ENSP00000430331:V38M;ENSP00000265896:V133M;ENSP00000428239:V75M	ENSP00000265896:V133M	V	+	1	0	SQLE	126084704	1.000000	0.71417	0.119000	0.21687	0.347000	0.29111	3.864000	0.56024	-0.004000	0.14419	-0.459000	0.05422	GTG	SQLE	-	pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	ENSG00000104549		0.438	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	156	0.00	0	G	NM_003129		126015523	126015523	+1	no_errors	ENST00000265896	ensembl	human	known	69_37n	missense	90	28.35	36	SNP	0.982	A
SQSTM1	8878	genome.wustl.edu	37	5	179263530	179263530	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:179263530G>T	ENST00000389805.4	+	8	1438	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	C5orf45_ENST00000523267.1_5'Flank|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K336N|SQSTM1_ENST00000402874.3_Missense_Mutation_p.K336N|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000360718.5_Missense_Mutation_p.K336N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R337I	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	420	Interaction with NTRK1. {ECO:0000250}.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGACCAAGAACTATGACA	0.597																																						dbGAP											0													133.0	132.0	132.0					5																	179263530		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1260G>T	5.37:g.179263530G>T	ENSP00000374455:p.Lys420Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.K420N	ENST00000389805.4	37	c.1260	CCDS34317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.36|18.36	3.607441|3.607441	0.66558|0.66558	.|.	.|.	ENSG00000161011|ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000360718|ENST00000510187	D;D;D;D|T	0.91011|0.21543	-2.77;-2.77;-2.77;-2.77|2.0	4.53|4.53	4.53|4.53	0.55603|0.55603	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);UBA-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42675|0.42675	0.1213|0.1213	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.65815	1.0|0.995	D|P	0.91635|0.60886	0.999|0.88	T|T	0.42849|0.42849	-0.9427|-0.9427	10|9	0.87932|0.62326	D|D	0|0.03	-28.9595|-28.9595	10.8799|10.8799	0.46933|0.46933	0.0878:0.0:0.9122:0.0|0.0878:0.0:0.9122:0.0	.|.	420|337	Q13501|E7EMC7	SQSTM_HUMAN|.	N|I	336;420;276;336;336|337	ENSP00000366128:K336N;ENSP00000374455:K420N;ENSP00000385553:K336N;ENSP00000353944:K336N|ENSP00000424477:R337I	ENSP00000353944:K336N|ENSP00000424477:R337I	K|R	+|+	3|2	2|0	SQSTM1|SQSTM1	179196136|179196136	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.674000|0.674000	0.39518|0.39518	4.078000|4.078000	0.57606|0.57606	2.033000|2.033000	0.60031|0.60031	0.462000|0.462000	0.41574|0.41574	AAG|AGA	SQSTM1	-	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000161011		0.597	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQSTM1	HGNC	protein_coding	OTTHUMT00000319344.1	151	0.00	0	G			179263530	179263530	+1	no_errors	ENST00000389805	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	1.000	T
SSC4D	136853	genome.wustl.edu	37	7	76028110	76028110	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:76028110G>A	ENST00000275560.3	-	5	827	c.480C>T	c.(478-480)ttC>ttT	p.F160F	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCGTTGGCAAGAATTCTGGAA	0.512																																						dbGAP											0													222.0	209.0	214.0					7																	76028110		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000275560.3:c.480C>T	7.37:g.76028110G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.F160	ENST00000275560.3	37	c.480	CCDS5585.1	7																																																																																			SRCRB4D	-	superfamily_Srcr_rcpt-rel	ENSG00000146700		0.512	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	214	0.00	0	G			76028110	76028110	-1	no_errors	ENST00000275560	ensembl	human	known	69_37n	silent	140	28.93	57	SNP	0.997	A
SREK1	140890	genome.wustl.edu	37	5	65460644	65460644	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:65460644G>A	ENST00000380918.3	+	8	1232	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.R307Q	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	191	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAAGGCGGTCGATCTCGTTCC	0.413																																					GBM(10;31 347 27684 38976 41583)	dbGAP											0													133.0	132.0	132.0					5																	65460644		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.572G>A	5.37:g.65460644G>A	ENSP00000370305:p.Arg191Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R307Q	ENST00000380918.3	37	c.920	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001160	0.54254	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.12984	2.63;2.81	5.4	4.53	0.55603	.	0.284494	0.32608	N	0.005871	T	0.14313	0.0346	L	0.46157	1.445	0.38744	D	0.953959	B;B;B	0.21147	0.052;0.052;0.04	B;B;B	0.12837	0.003;0.003;0.008	T	0.04140	-1.0974	10	0.37606	T	0.19	.	14.4511	0.67385	0.0713:0.0:0.9287:0.0	.	191;191;307	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	Q	307;307;191	ENSP00000334538:R307Q;ENSP00000370305:R191Q	ENSP00000334538:R307Q	R	+	2	0	SREK1	65496400	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.936000	0.63506	1.406000	0.46857	-0.140000	0.14226	CGA	SREK1	-	NULL	ENSG00000153914		0.413	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	311	0.00	0	G	NM_001077199		65460644	65460644	+1	no_errors	ENST00000334121	ensembl	human	known	69_37n	missense	165	26.99	61	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64456849	64456849	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:64456849C>A	ENST00000355086.3	+	7	1478	c.954C>A	c.(952-954)ttC>ttA	p.F318L	SRGAP1_ENST00000357825.3_Missense_Mutation_p.F318L|SRGAP1_ENST00000543397.1_Missense_Mutation_p.F278L|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	318	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGCAGAGATTCATGGAGATGT	0.418																																						dbGAP											0													142.0	131.0	135.0					12																	64456849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.954C>A	12.37:g.64456849C>A	ENSP00000347198:p.Phe318Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.F318L	ENST00000355086.3	37	c.954	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	C	5.466	0.271070	0.10349	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.55930	0.49;0.49;1.86	4.65	2.83	0.33086	.	0.000000	0.36893	U	0.002343	T	0.26882	0.0658	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.0	B;B;B	0.17979	0.02;0.008;0.008	T	0.04294	-1.0962	9	.	.	.	.	9.0342	0.36277	0.0:0.7702:0.0:0.2298	.	318;278;318	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	L	318;318;278	ENSP00000347198:F318L;ENSP00000350480:F318L;ENSP00000437948:F278L	.	F	+	3	2	SRGAP1	62743116	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	0.420000	0.21263	0.891000	0.36235	0.557000	0.71058	TTC	SRGAP1	-	superfamily_Fuc/Ara_isomerase_C	ENSG00000196935		0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	257	0.00	0	C			64456849	64456849	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	missense	139	14.72	24	SNP	1.000	A
SRPK2	6733	genome.wustl.edu	37	7	104787034	104787034	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:104787034G>T	ENST00000393651.3	-	8	780	c.693C>A	c.(691-693)atC>atA	p.I231I	SRPK2_ENST00000489828.1_Silent_p.I220I|SRPK2_ENST00000357311.3_Silent_p.I220I	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACACATCAAGATATTTTCCG	0.448																																						dbGAP											0													144.0	118.0	127.0					7																	104787034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.693C>A	7.37:g.104787034G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I231	ENST00000393651.3	37	c.693	CCDS34724.1	7																																																																																			SRPK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000135250		0.448	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	299	0.33	1	G	NM_182691		104787034	104787034	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	silent	213	16.41	42	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2813009	2813009	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:2813009C>A	ENST00000301740.8	+	11	3029	c.2480C>A	c.(2479-2481)tCt>tAt	p.S827Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	827	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAACAGAAATCTAAGACACCA	0.517																																						dbGAP											0													217.0	218.0	218.0					16																	2813009		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2480C>A	16.37:g.2813009C>A	ENSP00000301740:p.Ser827Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S827Y	ENST00000301740.8	37	c.2480	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090420	0.20471	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27104	1.69	5.49	5.49	0.81192	.	0.113001	0.40385	N	0.001106	T	0.31513	0.0799	N	0.24115	0.695	0.41197	D	0.98634	D	0.58970	0.984	P	0.54499	0.754	T	0.06862	-1.0803	10	0.72032	D	0.01	-6.36	16.8685	0.86035	0.0:1.0:0.0:0.0	.	827	Q9UQ35	SRRM2_HUMAN	Y	827;827;79;792	ENSP00000301740:S827Y	ENSP00000301740:S827Y	S	+	2	0	SRRM2	2753010	1.000000	0.71417	0.998000	0.56505	0.454000	0.32378	4.480000	0.60243	2.593000	0.87608	0.655000	0.94253	TCT	SRRM2	-	NULL	ENSG00000167978		0.517	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	276	0.00	0	C			2813009	2813009	+1	no_errors	ENST00000301740	ensembl	human	known	69_37n	missense	130	27.78	50	SNP	1.000	A
SRSF4	6429	genome.wustl.edu	37	1	29487045	29487045	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:29487045G>T	ENST00000373795.4	-	2	342				SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4						gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						AGAGAGCAAAGAAAATACTGG	0.398																																						dbGAP											0													108.0	102.0	104.0					1																	29487045		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.108-16C>A	1.37:g.29487045G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXP1|Q9BUA4|Q9UEB5	RNA	SNP	-	NULL	ENST00000373795.4	37	NULL	CCDS333.1	1																																																																																			SRSF4	-	-	ENSG00000116350		0.398	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF4	HGNC	protein_coding	OTTHUMT00000010392.1	64	0.00	0	G	NM_005626		29487045	29487045	-1	no_errors	ENST00000497015	ensembl	human	known	69_37n	rna	51	12.07	7	SNP	0.054	T
SS18L1	26039	genome.wustl.edu	37	20	60749634	60749634	+	Silent	SNP	C	C	T	rs199685307		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:60749634C>T	ENST00000331758.3	+	10	1124	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	SS18L1_ENST00000421564.1_Silent_p.Y366Y|SS18L1_ENST00000370848.4_Silent_p.Y369Y	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	366	Gln-rich.|Necessary for nuclear localization. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCCAGCAGTACGGAAGCTACC	0.632			T	SSX1	synovial sarcoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		12875	0.001		0.0	False		,,,				2504	0.0					dbGAP		Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0													83.0	88.0	86.0					20																	60749634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.1098C>T	20.37:g.60749634C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	NULL	p.T181M	ENST00000331758.3	37	c.542	CCDS13491.1	20																																																																																			SS18L1	-	NULL	ENSG00000184402		0.632	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SS18L1	HGNC	protein_coding	OTTHUMT00000080004.2	37	0.00	0	C			60749634	60749634	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492466	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.994	T
SSB	6741	genome.wustl.edu	37	2	170666792	170666792	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170666792G>T	ENST00000409333.1	+	9	916		c.e9-1		SSB_ENST00000260956.4_Splice_Site|METTL5_ENST00000409837.1_3'UTR			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)						histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TATTTTTATAGAAATCTCTAG	0.323																																						dbGAP											0													21.0	23.0	22.0					2																	170666792		2169	4296	6465	-	-	-	SO:0001630	splice_region_variant	0				CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.670-1G>T	2.37:g.170666792G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15367|Q53XJ4	Splice_Site	SNP	-	e8-1	ENST00000409333.1	37	c.670-1	CCDS2237.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939374	0.52972	.	.	ENSG00000138385	ENST00000260956;ENST00000409005;ENST00000409333	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSB	170375038	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	8.949000	0.93012	2.414000	0.81942	0.460000	0.39030	.	SSB	-	-	ENSG00000138385		0.323	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSB	HGNC	protein_coding	OTTHUMT00000333316.1	65	0.00	0	G	NM_003142	Intron	170666792	170666792	+1	no_errors	ENST00000260956	ensembl	human	known	69_37n	splice_site	49	12.50	7	SNP	1.000	T
SSBP1	6742	genome.wustl.edu	37	7	141445301	141445301	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:141445301G>A	ENST00000481508.1	+	6	755	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	SSBP1_ENST00000498107.1_Missense_Mutation_p.R107Q|SSBP1_ENST00000484178.1_Missense_Mutation_p.R107Q|SSBP1_ENST00000265304.6_Missense_Mutation_p.R107Q|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000465582.1_Missense_Mutation_p.R107Q	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	107	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R107Q(1)		large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					ATCAGGTCTCGAATTTATTTG	0.338																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											90.0	100.0	96.0					7																	141445301		2203	4300	6503	-	-	-	SO:0001583	missense	0			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.320G>A	7.37:g.141445301G>A	ENSP00000419665:p.Arg107Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold-like,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd	p.R107Q	ENST00000481508.1	37	c.320	CCDS5866.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462281	0.84425	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	N	0.21194	0.64	0.80722	D	1	D;D	0.67145	0.996;0.977	P;B	0.45610	0.487;0.337	T	0.35051	-0.9804	9	0.02654	T	1	-11.5216	19.3324	0.94297	0.0:0.0:1.0:0.0	.	107;107	B7Z268;Q04837	.;SSBP_HUMAN	Q	107	.	ENSP00000265304:R107Q	R	+	2	0	SSBP1	141091770	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	8.547000	0.90665	2.571000	0.86741	0.655000	0.94253	CGA	SSBP1	-	pfam_Primosome_PriB/ssb,superfamily_NA-bd_OB-fold-like,pfscan_Primosome_PriB/ssb,tigrfam_ssDNA-bd	ENSG00000106028		0.338	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SSBP1	HGNC	protein_coding	OTTHUMT00000349187.1	360	0.28	1	G	NM_003143		141445301	141445301	+1	no_errors	ENST00000265304	ensembl	human	known	69_37n	missense	246	13.38	38	SNP	1.000	A
SSBP2	23635	genome.wustl.edu	37	5	80769559	80769559	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:80769559C>A	ENST00000320672.4	-	8	740	c.530G>T	c.(529-531)aGa>aTa	p.R177I	SSBP2_ENST00000505980.1_Missense_Mutation_p.R157I|SSBP2_ENST00000509053.1_Missense_Mutation_p.R147I|SSBP2_ENST00000514493.1_Missense_Mutation_p.R147I|SSBP2_ENST00000515395.1_Missense_Mutation_p.R147I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	177	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGAGTCATTCTCTGCATTGG	0.423																																						dbGAP											0													155.0	130.0	139.0					5																	80769559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.530G>T	5.37:g.80769559C>A	ENSP00000322977:p.Arg177Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	pfam_SSDP_ss-bd,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.R177I	ENST00000320672.4	37	c.530	CCDS4056.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.177942	0.94846	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	M	0.83384	2.64	0.80722	D	1	D;D;D;D;P;P	0.89917	1.0;0.999;1.0;1.0;0.93;0.93	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.931;0.931	D	0.85448	0.1159	9	0.72032	D	0.01	-11.5577	20.0795	0.97766	0.0:1.0:0.0:0.0	.	147;147;157;130;147;177	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	I	177;147;147;130;83;83;157;147;173	.	ENSP00000322977:R177I	R	-	2	0	SSBP2	80805315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.035000	0.76517	2.747000	0.94245	0.650000	0.86243	AGA	SSBP2	-	pfam_SSDP_ss-bd	ENSG00000145687		0.423	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	291	0.00	0	C	NM_012446		80769559	80769559	-1	no_errors	ENST00000320672	ensembl	human	known	69_37n	missense	176	27.87	68	SNP	1.000	A
SSFA2	6744	genome.wustl.edu	37	2	182766778	182766778	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:182766778A>C	ENST00000431877.2	+	8	1177	c.998A>C	c.(997-999)gAa>gCa	p.E333A	SSFA2_ENST00000409001.1_Missense_Mutation_p.E333A|SSFA2_ENST00000320370.7_Missense_Mutation_p.E333A|SSFA2_ENST00000428267.2_Missense_Mutation_p.E180A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	333						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCAGTGATTGAAGAAAGTGGC	0.328																																						dbGAP											0													48.0	52.0	51.0					2																	182766778		2199	4300	6499	-	-	-	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.998A>C	2.37:g.182766778A>C	ENSP00000388731:p.Glu333Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.E333A	ENST00000431877.2	37	c.998	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860326	0.71834	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.16897	2.54;2.31;2.53;2.54	5.51	5.51	0.81932	.	0.306471	0.32301	N	0.006289	T	0.37598	0.1009	M	0.70595	2.14	0.38874	D	0.956763	D;D;D;D	0.55385	0.971;0.971;0.971;0.971	P;P;P;P	0.58077	0.832;0.721;0.721;0.721	T	0.29671	-1.0004	10	0.62326	D	0.03	-18.9772	15.9212	0.79575	1.0:0.0:0.0:0.0	.	180;333;333;333	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	A	333;333;333;180	ENSP00000388731:E333A;ENSP00000314669:E333A;ENSP00000387319:E333A;ENSP00000409867:E180A	ENSP00000314669:E333A	E	+	2	0	SSFA2	182475023	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.054000	0.76649	2.224000	0.72417	0.528000	0.53228	GAA	SSFA2	-	NULL	ENSG00000138434		0.328	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	64	0.00	0	A	NM_006751		182766778	182766778	+1	no_errors	ENST00000431877	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	1.000	C
SSH1	54434	genome.wustl.edu	37	12	109192941	109192941	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:109192941A>G	ENST00000326495.5	-	13	1277	c.1184T>C	c.(1183-1185)aTg>aCg	p.M395T	SSH1_ENST00000360239.3_Missense_Mutation_p.M83T|SSH1_ENST00000326470.5_Missense_Mutation_p.M406T|SSH1_ENST00000551165.1_Missense_Mutation_p.M395T	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	395	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTCACGCCCATTTTGCAATG	0.532																																						dbGAP											0													48.0	45.0	46.0					12																	109192941		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1184T>C	12.37:g.109192941A>G	ENSP00000315713:p.Met395Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.M395T	ENST00000326495.5	37	c.1184	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132566	0.77662	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;D;D;D	0.85411	1.55;-1.98;-1.98;-1.98	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	M	0.90145	3.09	0.54753	D	0.999985	D;D;D;D	0.71674	0.957;0.998;0.995;0.971	P;D;D;D	0.74023	0.901;0.976;0.982;0.955	D	0.94758	0.7933	10	0.87932	D	0	-37.2834	15.5217	0.75871	1.0:0.0:0.0:0.0	.	406;395;395;83	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	T	83;395;395;406	ENSP00000353374:M83T;ENSP00000315713:M395T;ENSP00000448824:M395T;ENSP00000326107:M406T	ENSP00000326107:M406T	M	-	2	0	SSH1	107717070	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	9.339000	0.96797	2.131000	0.65755	0.533000	0.62120	ATG	SSH1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000084112		0.532	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	45	0.00	0	A	NM_018984		109192941	109192941	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	1.000	G
SSH2	85464	genome.wustl.edu	37	17	28029977	28029977	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:28029977C>A	ENST00000269033.3	-	3	362	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_Splice_Site_p.G98C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	71					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGCATTACCTGCATGCTTG	0.428																																						dbGAP											0													188.0	175.0	179.0					17																	28029977		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.211+1G>T	17.37:g.28029977C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.G71C	ENST00000269033.3	37	c.211	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848316	0.51164	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.37752	1.18;1.18	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.70842	2.15	0.80722	D	1	D;D;D;P;D	0.89917	0.983;1.0;1.0;0.693;0.97	D;D;D;P;P	0.97110	0.92;0.999;1.0;0.515;0.833	T	0.56998	-0.7886	9	.	.	.	-12.7807	19.3727	0.94495	0.0:1.0:0.0:0.0	.	98;71;78;71;71	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	C	71;98;71;78	ENSP00000269033:G71C;ENSP00000444743:G98C	.	G	-	1	0	SSH2	25054103	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.123000	0.77176	2.878000	0.98634	0.650000	0.86243	GGC	SSH2	-	NULL	ENSG00000141298		0.428	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	302	0.00	0	C	NM_033389	Missense_Mutation	28029977	28029977	-1	no_errors	ENST00000269033	ensembl	human	known	69_37n	missense	180	18.47	41	SNP	1.000	A
SSH2	85464	genome.wustl.edu	37	17	28029980	28029982	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	CAT	CAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:28029980_28029982delCAT	ENST00000269033.3	-	3	357_359	c.206_208delATG	c.(205-210)catgca>cca	p.69_70HA>P	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'UTR|SSH2_ENST00000540801.1_In_Frame_Del_p.96_97HA>P	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	69					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCATTACCTGCATGCTTGTTCCG	0.433																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.206_208delATG	17.37:g.28029980_28029982delCAT	ENSP00000269033:p.His69_Ala70delinsPro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	In_Frame_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.HA69in_frame_delP	ENST00000269033.3	37	c.208_206	CCDS11253.1	17																																																																																			SSH2	-	NULL	ENSG00000141298		0.433	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	304	0.00	0	CAT	NM_033389		28029980	28029982	-1	no_errors	ENST00000269033	ensembl	human	known	69_37n	in_frame_del	186	17.26	39	DEL	1.000:1.000:1.000	-
SSPO	23145	genome.wustl.edu	37	7	149500320	149500320	+	RNA	SNP	G	G	A	rs571494027		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:149500320G>A	ENST00000378016.2	+	0	7846							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCAGACTGCGAGCTGGGCCG	0.677													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17410	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													35.0	45.0	42.0					7																	149500320		2152	4251	6403	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500320G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.677	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		25	0.00	0	G			149500320	149500320	+1	no_errors	ENST00000378016	ensembl	human	known	69_37n	rna	12	36.84	7	SNP	0.990	A
SSX2IP	117178	genome.wustl.edu	37	1	85121572	85121572	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85121572C>A	ENST00000342203.3	-	11	1595	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	SSX2IP_ENST00000605755.1_Missense_Mutation_p.K417N|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.K444N|SSX2IP_ENST00000437941.2_Missense_Mutation_p.K417N	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	444					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTCAAAATTCTTTTTCTGCT	0.393																																						dbGAP											0													92.0	92.0	92.0					1																	85121572		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1332G>T	1.37:g.85121572C>A	ENSP00000340279:p.Lys444Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.K444N	ENST00000342203.3	37	c.1332	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804504	0.50315	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.49139	0.79;0.8	5.6	3.73	0.42828	.	0.232564	0.50627	D	0.000106	T	0.23926	0.0579	L	0.52573	1.65	0.39738	D	0.971717	P;B;B	0.38827	0.649;0.376;0.376	B;B;B	0.36567	0.228;0.114;0.114	T	0.06250	-1.0837	10	0.37606	T	0.19	-0.2787	9.0089	0.36129	0.0:0.7784:0.0:0.2216	.	440;444;417	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	N	444;417;440;444	ENSP00000340279:K444N;ENSP00000412781:K417N	ENSP00000340279:K444N	K	-	3	2	SSX2IP	84894160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.735000	0.38176	1.380000	0.46344	0.591000	0.81541	AAG	SSX2IP	-	NULL	ENSG00000117155		0.393	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	544	0.00	0	C	NM_014021		85121572	85121572	-1	no_errors	ENST00000342203	ensembl	human	known	69_37n	missense	278	20.29	71	SNP	1.000	A
SSX2IP	117178	genome.wustl.edu	37	1	85122063	85122063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85122063C>A	ENST00000342203.3	-	10	1446	c.1183G>T	c.(1183-1185)Gaa>Taa	p.E395*	SSX2IP_ENST00000605755.1_Nonsense_Mutation_p.E368*|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Nonsense_Mutation_p.E395*|SSX2IP_ENST00000437941.2_Nonsense_Mutation_p.E368*	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	395					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAATCATTTCTTTACACTGC	0.358																																						dbGAP											0													142.0	134.0	137.0					1																	85122063		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1183G>T	1.37:g.85122063C>A	ENSP00000340279:p.Glu395*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Nonsense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.E395*	ENST00000342203.3	37	c.1183	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.787472	0.98954	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	.	.	.	5.62	5.62	0.85841	.	0.045666	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.2905	19.6473	0.95784	0.0:1.0:0.0:0.0	.	.	.	.	X	395;368;391;395	.	ENSP00000340279:E395X	E	-	1	0	SSX2IP	84894651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.205000	0.77881	2.650000	0.89964	0.591000	0.81541	GAA	SSX2IP	-	NULL	ENSG00000117155		0.358	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	459	0.00	0	C	NM_014021		85122063	85122063	-1	no_errors	ENST00000342203	ensembl	human	known	69_37n	nonsense	222	13.28	34	SNP	1.000	A
SSX2IP	117178	genome.wustl.edu	37	1	85122088	85122088	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85122088G>A	ENST00000342203.3	-	10	1421	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	SSX2IP_ENST00000605755.1_Silent_p.L359L|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Silent_p.L386L|SSX2IP_ENST00000437941.2_Silent_p.L359L	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	386					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.L386L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCTAACTCGAGTTTTTCAG	0.343																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											159.0	149.0	152.0					1																	85122088		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1158C>T	1.37:g.85122088G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Silent	SNP	pfam_Afadin/alpha-actinin-bd	p.L386	ENST00000342203.3	37	c.1158	CCDS699.1	1																																																																																			SSX2IP	-	NULL	ENSG00000117155		0.343	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	487	0.00	0	G	NM_014021		85122088	85122088	-1	no_errors	ENST00000342203	ensembl	human	known	69_37n	silent	203	28.57	82	SNP	0.006	A
SSX4	6759	genome.wustl.edu	37	X	48244833	48244833	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48244833G>A	ENST00000376886.2	+	4	387	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	SSX4_ENST00000375517.3_Missense_Mutation_p.R75Q	NM_005636.3	NP_005627.1	O60224	SSX4_HUMAN	synovial sarcoma, X breakpoint 4	75	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)		SS18/SSX4(12)	lung(1)	1						CGTAGTAAACGGGCTGCAGAC	0.512			T	SS18	synovial sarcoma																																	dbGAP		Dom	yes		X	Xp11.23	6759	"""synovial sarcoma, X breakpoint 4"""		M	0																																										-	-	-	SO:0001583	missense	0				CCDS35240.1, CCDS43934.1	Xp11.23	2009-06-17			ENSG00000204645	ENSG00000268009			11338	protein-coding gene	gene with protein product		300326					Standard	NM_005636		Approved	CT5.4		O60224	OTTHUMG00000022698	ENST00000376886.2:c.224G>A	X.37:g.48244833G>A	ENSP00000366083:p.Arg75Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYD4|B2RPE3|Q3SYD4|Q5JQZ0|Q9UJU9	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R75Q	ENST00000376886.2	37	c.224	CCDS35240.1	X	.	.	.	.	.	.	.	.	.	.	g	4.484	0.089677	0.08632	.	.	ENSG00000204645	ENST00000376886;ENST00000375517	T;T	0.13420	2.99;2.59	2.17	-3.57	0.04612	Krueppel-associated box (2);Krueppel-associated box-related (1);	2.584640	0.01390	N	0.013200	T	0.19446	0.0467	.	.	.	0.09310	N	1	D;B	0.76494	0.999;0.012	P;B	0.61201	0.885;0.01	T	0.29212	-1.0019	9	0.27082	T	0.32	.	0.243	0.00195	0.3497:0.2014:0.2456:0.2033	.	75;75	A8MYD4;O60224	.;SSX4_HUMAN	Q	75	ENSP00000366083:R75Q;ENSP00000364667:R75Q	ENSP00000364667:R75Q	R	+	2	0	SSX4	48129777	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.153000	0.03169	-1.132000	0.02907	0.171000	0.16805	CGG	SSX4	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	ENSG00000204645		0.512	SSX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX4	HGNC	protein_coding	OTTHUMT00000058902.2	91	0.00	0	G			48244833	48244833	+1	no_errors	ENST00000376886	ensembl	human	known	69_37n	missense	67	15.00	12	SNP	0.000	A
ST6GALNAC1	55808	genome.wustl.edu	37	17	74625461	74625461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:74625461G>T	ENST00000156626.7	-	2	663	c.464C>A	c.(463-465)tCa>tAa	p.S155*	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	155					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCTCTTCCATGATTGTGCCTC	0.572																																						dbGAP											0													184.0	165.0	172.0					17																	74625461		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.464C>A	17.37:g.74625461G>T	ENSP00000156626:p.Ser155*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW90|Q9NSC6	Nonsense_Mutation	SNP	pfam_Glyco_trans_29	p.S155*	ENST00000156626.7	37	c.464	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274231	0.59649	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	.	.	.	3.53	-1.14	0.09741	.	2.874120	0.00866	N	0.001964	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.0193	1.7694	0.03009	0.1853:0.2788:0.383:0.1529	.	.	.	.	X	155	.	ENSP00000156626:S155X	S	-	2	0	ST6GALNAC1	72137056	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.135000	0.15952	-0.149000	0.11215	-0.339000	0.08088	TCA	ST6GALNAC1	-	NULL	ENSG00000070526		0.572	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	250	0.00	0	G	NM_018414		74625461	74625461	-1	no_errors	ENST00000156626	ensembl	human	known	69_37n	nonsense	124	14.48	21	SNP	0.000	T
ST6GALNAC3	256435	genome.wustl.edu	37	1	76877707	76877707	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:76877707C>A	ENST00000328299.3	+	3	376	c.228C>A	c.(226-228)gaC>gaA	p.D76E	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	76					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGCAACTGGACTGTGACCTTT	0.393																																						dbGAP											0													95.0	86.0	89.0					1																	76877707		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.228C>A	1.37:g.76877707C>A	ENSP00000329214:p.Asp76Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.D76E	ENST00000328299.3	37	c.228	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341972	0.41498	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	T	0.27890	1.64	6.17	6.17	0.99709	.	0.243832	0.47093	D	0.000255	T	0.12008	0.0292	L	0.32530	0.975	0.47511	D	0.999442	B;B;B	0.29301	0.047;0.042;0.241	B;B;B	0.29524	0.065;0.103;0.085	T	0.06110	-1.0845	10	0.02654	T	1	-18.0566	19.8676	0.96824	0.0:1.0:0.0:0.0	.	11;76;76	B4DM98;Q8NDV1;Q8NDV1-2	.;SIA7C_HUMAN;.	E	76;76;75;10	ENSP00000329214:D76E	ENSP00000329214:D76E	D	+	3	2	ST6GALNAC3	76650295	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	2.443000	0.44881	2.941000	0.99782	0.655000	0.94253	GAC	ST6GALNAC3	-	pfam_Glyco_trans_29	ENSG00000184005		0.393	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	345	0.00	0	C	NM_152996		76877707	76877707	+1	no_errors	ENST00000328299	ensembl	human	known	69_37n	missense	221	17.54	47	SNP	1.000	A
ST7L	54879	genome.wustl.edu	37	1	113119665	113119665	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:113119665T>G	ENST00000358039.4	-	11	1492	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	ST7L_ENST00000369668.2_Missense_Mutation_p.E396D|ST7L_ENST00000343210.7_Missense_Mutation_p.E396D|ST7L_ENST00000538187.1_Missense_Mutation_p.E340D|ST7L_ENST00000543570.1_Missense_Mutation_p.E379D|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000490067.1_Missense_Mutation_p.E379D|ST7L_ENST00000360743.4_Missense_Mutation_p.E396D|ST7L_ENST00000544629.1_Missense_Mutation_p.E331D|ST7L_ENST00000369669.1_Missense_Mutation_p.E213D|ST7L_ENST00000369666.1_Missense_Mutation_p.E379D	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	396					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCATTAATTTCTGCTGTGC	0.303																																						dbGAP											0													50.0	54.0	52.0					1																	113119665		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1188A>C	1.37:g.113119665T>G	ENSP00000350734:p.Glu396Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	pfam_ST7	p.E396D	ENST00000358039.4	37	c.1188	CCDS848.1	1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241494	0.79912	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000544629;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665	T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.51	4.38	0.52667	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.981;0.981;0.993;0.997;0.985	D;D;D;D;D;D;D;D;D	0.81914	0.99;0.995;0.994;0.983;0.934;0.934;0.934;0.961;0.971	T	0.48091	-0.9065	10	0.72032	D	0.01	-13.0814	10.96	0.47379	0.0:0.0744:0.0:0.9256	.	379;340;331;331;396;379;379;396;396	B7Z8V6;B7Z7D4;B7Z3J2;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.;.;.;.;.;.;.;.;ST7L_HUMAN	D	396;396;331;213;379;396;396;379;340;379;274	ENSP00000350734:E396D;ENSP00000353972:E396D;ENSP00000445499:E331D;ENSP00000358683:E213D;ENSP00000417140:E379D;ENSP00000358682:E396D;ENSP00000345312:E396D;ENSP00000358680:E379D;ENSP00000444021:E340D;ENSP00000444088:E379D	ENSP00000345312:E396D	E	-	3	2	ST7L	112921188	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.551000	0.60740	0.918000	0.36919	0.383000	0.25322	GAA	ST7L	-	pfam_ST7	ENSG00000007341		0.303	ST7L-001	KNOWN	basic|CCDS	protein_coding	ST7L	HGNC	protein_coding	OTTHUMT00000032504.3	175	0.00	0	T			113119665	113119665	-1	no_errors	ENST00000358039	ensembl	human	known	69_37n	missense	86	21.82	24	SNP	1.000	G
ST7L	54879	genome.wustl.edu	37	1	113134187	113134187	+	Nonsense_Mutation	SNP	G	G	A	rs115163996	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:113134187G>A	ENST00000358039.4	-	6	965	c.661C>T	c.(661-663)Cga>Tga	p.R221*	ST7L_ENST00000369668.2_Nonsense_Mutation_p.R221*|ST7L_ENST00000343210.7_Nonsense_Mutation_p.R221*|ST7L_ENST00000538187.1_Nonsense_Mutation_p.R165*|ST7L_ENST00000543570.1_Nonsense_Mutation_p.R204*|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000490067.1_Nonsense_Mutation_p.R204*|ST7L_ENST00000360743.4_Nonsense_Mutation_p.R221*|ST7L_ENST00000544629.1_Intron|ST7L_ENST00000369669.1_Nonsense_Mutation_p.R38*|ST7L_ENST00000369666.1_Nonsense_Mutation_p.R204*	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	221					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTTGATTCGAGCTGGAGGA	0.299																																						dbGAP											0													59.0	61.0	60.0					1																	113134187		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.661C>T	1.37:g.113134187G>A	ENSP00000350734:p.Arg221*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Nonsense_Mutation	SNP	pfam_ST7	p.R221*	ENST00000358039.4	37	c.661	CCDS848.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154631	0.78114	.	.	ENSG00000007341	ENST00000358039;ENST00000360743;ENST00000369673;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.135	19.6017	0.95566	0.0:0.0:1.0:0.0	.	.	.	.	X	221;221;99;38;204;221;221;204;165;204;99;165	.	ENSP00000345312:R221X	R	-	1	2	ST7L	112935710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.502000	0.53332	2.734000	0.93682	0.491000	0.48974	CGA	ST7L	-	pfam_ST7	ENSG00000007341		0.299	ST7L-001	KNOWN	basic|CCDS	protein_coding	ST7L	HGNC	protein_coding	OTTHUMT00000032504.3	114	0.00	0	G			113134187	113134187	-1	no_errors	ENST00000358039	ensembl	human	known	69_37n	nonsense	70	18.39	16	SNP	1.000	A
ST7L	54879	genome.wustl.edu	37	1	113134201	113134201	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:113134201C>A	ENST00000358039.4	-	6	951	c.647G>T	c.(646-648)aGa>aTa	p.R216I	ST7L_ENST00000369668.2_Missense_Mutation_p.R216I|ST7L_ENST00000343210.7_Missense_Mutation_p.R216I|ST7L_ENST00000538187.1_Missense_Mutation_p.R160I|ST7L_ENST00000543570.1_Missense_Mutation_p.R199I|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000490067.1_Missense_Mutation_p.R199I|ST7L_ENST00000360743.4_Missense_Mutation_p.R216I|ST7L_ENST00000544629.1_Intron|ST7L_ENST00000369669.1_Missense_Mutation_p.R33I|ST7L_ENST00000369666.1_Missense_Mutation_p.R199I	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	216					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAGGATTTCTTTCCCTCCA	0.308																																						dbGAP											0													55.0	57.0	56.0					1																	113134201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.647G>T	1.37:g.113134201C>A	ENSP00000350734:p.Arg216Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Nonsense_Mutation	SNP	pfam_ST7	p.E88*	ENST00000358039.4	37	c.262	CCDS848.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.963449|4.963449	0.92791|0.92791	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000418497|ENST00000358039;ENST00000360743;ENST00000369673;ENST00000369669;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664	.|T;T;T;T;T;T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.57301	.|0.2044	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.998;0.999;0.996;0.996;0.996;0.996;0.997	.|T	.|0.62803	.|-0.6777	.|10	.|0.87932	.|D	.|0	-13.4165|-13.4165	19.6017|19.6017	0.95566|0.95566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|199;160;216;199;199;216;216	.|B7Z8V6;B7Z7D4;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.|.;.;.;.;.;.;ST7L_HUMAN	X|I	88|216;216;94;33;199;216;216;199;160;199;94;160	.|ENSP00000350734:R216I;ENSP00000353972:R216I;ENSP00000358683:R33I;ENSP00000417140:R199I;ENSP00000358682:R216I;ENSP00000345312:R216I;ENSP00000358680:R199I;ENSP00000444021:R160I;ENSP00000444088:R199I;ENSP00000358678:R160I	.|ENSP00000345312:R216I	E|R	-|-	1|2	0|0	ST7L|ST7L	112935724|112935724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.456000|7.456000	0.80751|0.80751	2.734000|2.734000	0.93682|0.93682	0.491000|0.491000	0.48974|0.48974	GAA|AGA	ST7L	-	pfam_ST7	ENSG00000007341		0.308	ST7L-001	KNOWN	basic|CCDS	protein_coding	ST7L	HGNC	protein_coding	OTTHUMT00000032504.3	115	0.00	0	C			113134201	113134201	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418497	ensembl	human	known	69_37n	nonsense	65	19.75	16	SNP	1.000	A
ST8SIA2	8128	genome.wustl.edu	37	15	92981732	92981732	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:92981732C>T	ENST00000268164.3	+	4	677	c.440C>T	c.(439-441)tCg>tTg	p.S147L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.S126L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	147					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCAGGACTTCGCCACTGAAG	0.537																																						dbGAP											0													117.0	113.0	114.0					15																	92981732		2198	4298	6496	-	-	-	SO:0001583	missense	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.440C>T	15.37:g.92981732C>T	ENSP00000268164:p.Ser147Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S147L	ENST00000268164.3	37	c.440	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886589	0.91814	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.29142	1.58;1.58;1.58	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.59867	-0.7373	10	0.56958	D	0.05	-4.5169	18.3792	0.90444	0.0:1.0:0.0:0.0	.	126;147	C6G488;Q92186	.;SIA8B_HUMAN	L	147;126;104	ENSP00000268164:S147L;ENSP00000437382:S126L;ENSP00000450851:S104L	ENSP00000268164:S147L	S	+	2	0	ST8SIA2	90782736	1.000000	0.71417	0.465000	0.27155	0.938000	0.57974	7.261000	0.78400	2.332000	0.79248	0.563000	0.77884	TCG	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000140557		0.537	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	156	0.00	0	C	NM_006011		92981732	92981732	+1	no_errors	ENST00000268164	ensembl	human	known	69_37n	missense	79	28.83	32	SNP	1.000	T
ST8SIA4	7903	genome.wustl.edu	37	5	100231434	100231434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:100231434G>A	ENST00000231461.5	-	2	479	c.169C>T	c.(169-171)Cga>Tga	p.R57*	ST8SIA4_ENST00000451528.2_Nonsense_Mutation_p.R57*	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	57					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R57*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CCAGCCTTTCGAATGATTTTA	0.373																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											112.0	109.0	110.0					5																	100231434		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.169C>T	5.37:g.100231434G>A	ENSP00000231461:p.Arg57*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA07|G3V104|Q8N1F4|Q92693	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R57*	ENST00000231461.5	37	c.169	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.260157	0.97421	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	.	.	.	5.96	5.96	0.96718	.	0.083749	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.3963	0.94608	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000231461:R57X	R	-	1	2	ST8SIA4	100259333	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.235000	0.51328	2.814000	0.96858	0.655000	0.94253	CGA	ST8SIA4	-	pirsf_Sialyl_trans	ENSG00000113532		0.373	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	189	0.00	0	G	NM_005668		100231434	100231434	-1	no_errors	ENST00000231461	ensembl	human	known	69_37n	nonsense	126	14.86	22	SNP	1.000	A
STAC	6769	genome.wustl.edu	37	3	36485066	36485066	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:36485066C>T	ENST00000273183.3	+	2	622	c.322C>T	c.(322-324)Cat>Tat	p.H108Y	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.H108Y	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	108					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TGGCAAGGCTCATGCCTTTCA	0.582																																						dbGAP											0													128.0	118.0	122.0					3																	36485066		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.322C>T	3.37:g.36485066C>T	ENSP00000273183:p.His108Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.H108Y	ENST00000273183.3	37	c.322	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612859	0.87258	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	D;D;D	0.99719	-6.52;-6.52;-6.52	5.03	5.03	0.67393	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.95328	3.655	0.47698	D	0.999492	D;D	0.71674	0.997;0.998	D;P	0.75484	0.986;0.903	D	0.96865	0.9635	10	0.87932	D	0	.	18.3435	0.90313	0.0:1.0:0.0:0.0	.	108;108	E9PEA7;Q99469	.;STAC_HUMAN	Y	108;108;40;97	ENSP00000273183:H108Y;ENSP00000393713:H108Y;ENSP00000398403:H97Y	ENSP00000273183:H108Y	H	+	1	0	STAC	36460070	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.684000	0.84104	2.505000	0.84491	0.557000	0.71058	CAT	STAC	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000144681		0.582	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	123	0.00	0	C	NM_003149		36485066	36485066	+1	no_errors	ENST00000273183	ensembl	human	known	69_37n	missense	118	34.44	62	SNP	1.000	T
STAG1	10274	genome.wustl.edu	37	3	136141358	136141358	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:136141358C>T	ENST00000383202.2	-	19	2187	c.1931G>A	c.(1930-1932)tGc>tAc	p.C644Y	STAG1_ENST00000434713.2_Missense_Mutation_p.C418Y|STAG1_ENST00000536929.1_Missense_Mutation_p.C228Y|STAG1_ENST00000236698.5_Missense_Mutation_p.C644Y	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	644					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCTTCACTGCATAAGATACT	0.383																																						dbGAP											0													143.0	142.0	142.0					3																	136141358		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1931G>A	3.37:g.136141358C>T	ENSP00000372689:p.Cys644Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.C644Y	ENST00000383202.2	37	c.1931	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664237	0.88251	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	M	0.79011	2.435	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.70935	0.971;0.943;0.971	T	0.64672	-0.6352	10	0.56958	D	0.05	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	661;644;644	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	Y	644;644;418;228	ENSP00000372689:C644Y;ENSP00000236698:C644Y;ENSP00000404396:C418Y;ENSP00000445787:C228Y	ENSP00000236698:C644Y	C	-	2	0	STAG1	137624048	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.668000	0.90789	0.644000	0.83932	TGC	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	227	0.00	0	C	NM_005862		136141358	136141358	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	161	15.71	30	SNP	1.000	T
STAG1	10274	genome.wustl.edu	37	3	136141826	136141826	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:136141826A>C	ENST00000383202.2	-	17	1967	c.1711T>G	c.(1711-1713)Ttt>Gtt	p.F571V	STAG1_ENST00000434713.2_Missense_Mutation_p.F345V|STAG1_ENST00000536929.1_Missense_Mutation_p.F155V|STAG1_ENST00000236698.5_Missense_Mutation_p.F571V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	571					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAATAATAAAATGTTCAGTC	0.303																																						dbGAP											0													112.0	107.0	109.0					3																	136141826		2198	4298	6496	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1711T>G	3.37:g.136141826A>C	ENSP00000372689:p.Phe571Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.F571V	ENST00000383202.2	37	c.1711	CCDS3090.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.0|28.0	4.886253|4.886253	0.91814|0.91814	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929|ENST00000492318	T;T;T;T|.	0.13420|.	2.59;2.59;2.59;2.59|.	5.86|5.86	5.86|5.86	0.93980|0.93980	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.097920|.	0.64402|.	D|.	0.000001|.	T|T	0.77665|0.77665	0.4164|0.4164	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	P;P;P|.	0.41214|.	0.742;0.491;0.742|.	P;B;P|.	0.49597|.	0.616;0.271;0.616|.	T|T	0.78753|0.78753	-0.2081|-0.2081	10|5	0.48119|.	T|.	0.1|.	.|.	16.2913|16.2913	0.82755|0.82755	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	588;571;571|.	Q4LE48;Q6P275;Q8WVM7|.	.;.;STAG1_HUMAN|.	V|M	571;571;345;155|181	ENSP00000372689:F571V;ENSP00000236698:F571V;ENSP00000404396:F345V;ENSP00000445787:F155V|.	ENSP00000236698:F571V|.	F|I	-|-	1|3	0|3	STAG1|STAG1	137624516|137624516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.962000|8.962000	0.93254|0.93254	2.248000|2.248000	0.74166|0.74166	0.529000|0.529000	0.55759|0.55759	TTT|ATT	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.303	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	418	0.00	0	A	NM_005862		136141826	136141826	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	315	12.50	45	SNP	1.000	C
STAG1	10274	genome.wustl.edu	37	3	136196196	136196196	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:136196196T>C	ENST00000383202.2	-	10	1217	c.961A>G	c.(961-963)Atg>Gtg	p.M321V	STAG1_ENST00000434713.2_Missense_Mutation_p.M95V|STAG1_ENST00000236698.5_Missense_Mutation_p.M321V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	321	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCACTATACATTTTCATCCAT	0.338																																						dbGAP											0													141.0	131.0	134.0					3																	136196196		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.961A>G	3.37:g.136196196T>C	ENSP00000372689:p.Met321Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.M321V	ENST00000383202.2	37	c.961	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247448	0.39697	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.30448	1.53;1.53;1.53	5.09	5.09	0.68999	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.081184	0.85682	D	0.000000	T	0.24431	0.0592	L	0.28274	0.84	0.80722	D	1	B;B;B	0.26708	0.002;0.157;0.002	B;B;B	0.28991	0.011;0.097;0.007	T	0.04723	-1.0931	10	0.29301	T	0.29	.	15.1528	0.72713	0.0:0.0:0.0:1.0	.	338;321;321	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	V	321;321;95	ENSP00000372689:M321V;ENSP00000236698:M321V;ENSP00000404396:M95V	ENSP00000236698:M321V	M	-	1	0	STAG1	137678886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.015000	0.57152	2.031000	0.59945	0.533000	0.62120	ATG	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.338	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	301	0.00	0	T	NM_005862		136196196	136196196	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	194	11.82	26	SNP	1.000	C
STAG2	10735	genome.wustl.edu	37	X	123164893	123164893	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:123164893G>A	ENST00000371160.1	+	5	496	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R69Q|STAG2_ENST00000371144.3_Missense_Mutation_p.R69Q|STAG2_ENST00000371157.3_Missense_Mutation_p.R69Q|STAG2_ENST00000371145.3_Missense_Mutation_p.R69Q|STAG2_ENST00000354548.5_5'UTR	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	69					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGTCCAAACCGAATGAATGGT	0.413																																						dbGAP											0													223.0	179.0	194.0					X																	123164893		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.206G>A	X.37:g.123164893G>A	ENSP00000360202:p.Arg69Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R69Q	ENST00000371160.1	37	c.206	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767257	0.69878	.	.	ENSG00000101972	ENST00000394477;ENST00000218089;ENST00000455404;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	T;T;T;T;T;T	0.45276	1.86;0.9;1.46;1.46;1.86;1.46	5.32	5.32	0.75619	.	0.135312	0.50627	D	0.000109	T	0.48624	0.1510	M	0.70595	2.14	0.80722	D	1	P;B	0.38800	0.648;0.04	B;B	0.40782	0.34;0.011	T	0.46289	-0.9202	10	0.30078	T	0.28	0.2275	18.2895	0.90124	0.0:0.0:1.0:0.0	.	69;69	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	69	ENSP00000218089:R69Q;ENSP00000397265:R69Q;ENSP00000360202:R69Q;ENSP00000360199:R69Q;ENSP00000360187:R69Q;ENSP00000360186:R69Q	ENSP00000218089:R69Q	R	+	2	0	STAG2	122992574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.345000	0.79718	0.594000	0.82650	CGA	STAG2	-	NULL	ENSG00000101972		0.413	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	522	0.00	0	G	NM_006603		123164893	123164893	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	missense	285	29.46	119	SNP	1.000	A
STAG2	10735	genome.wustl.edu	37	X	123179106	123179106	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:123179106A>G	ENST00000371160.1	+	8	845	c.555A>G	c.(553-555)caA>caG	p.Q185Q	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.Q185Q|STAG2_ENST00000371144.3_Silent_p.Q185Q|STAG2_ENST00000371157.3_Silent_p.Q185Q|STAG2_ENST00000371145.3_Silent_p.Q185Q|STAG2_ENST00000354548.5_Silent_p.Q116Q	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	185					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAGTACGGCAATGTCAATATA	0.378																																						dbGAP											0													194.0	181.0	185.0					X																	123179106		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.555A>G	X.37:g.123179106A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Q185	ENST00000371160.1	37	c.555	CCDS14607.1	X																																																																																			STAG2	-	pfam_STAG,superfamily_ARM-type_fold	ENSG00000101972		0.378	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	309	0.00	0	A	NM_006603		123179106	123179106	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	silent	178	15.24	32	SNP	0.993	G
STAG3	10734	genome.wustl.edu	37	7	99780365	99780365	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99780365A>G	ENST00000426455.1	+	4	646	c.239A>G	c.(238-240)aAa>aGa	p.K80R	STAG3_ENST00000394018.2_Missense_Mutation_p.K80R|STAG3_ENST00000317296.5_Missense_Mutation_p.K80R	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	80					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CATCCAAAGAAAGGGTCCCGA	0.393																																						dbGAP											0													150.0	158.0	155.0					7																	99780365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.239A>G	7.37:g.99780365A>G	ENSP00000400359:p.Lys80Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.K80R	ENST00000426455.1	37	c.239	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556079	0.45487	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.35605	1.8;1.3;1.8	5.32	5.32	0.75619	.	0.000000	0.46145	D	0.000309	T	0.53174	0.1780	M	0.68952	2.095	0.33840	D	0.63132	D;B	0.63880	0.993;0.093	D;B	0.72625	0.978;0.017	T	0.60591	-0.7233	10	0.18276	T	0.48	-27.8942	11.6034	0.51017	1.0:0.0:0.0:0.0	.	80;80	B4DZ10;Q9UJ98	.;STAG3_HUMAN	R	80	ENSP00000400359:K80R;ENSP00000377586:K80R;ENSP00000319318:K80R	ENSP00000319318:K80R	K	+	2	0	STAG3	99618301	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	3.918000	0.56432	2.238000	0.73509	0.477000	0.44152	AAA	STAG3	-	NULL	ENSG00000066923		0.393	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	234	0.00	0	A	NM_012447		99780365	99780365	+1	no_errors	ENST00000317296	ensembl	human	known	69_37n	missense	158	30.40	69	SNP	1.000	G
STAM2	10254	genome.wustl.edu	37	2	152980437	152980437	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:152980437G>T	ENST00000263904.4	-	13	1541	c.1192C>A	c.(1192-1194)Caa>Aaa	p.Q398K		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	398					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CCATGTGATTGAACTGGATAT	0.363																																						dbGAP											0													91.0	86.0	88.0					2																	152980437		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1192C>A	2.37:g.152980437G>T	ENSP00000263904:p.Gln398Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.Q398K	ENST00000263904.4	37	c.1192	CCDS2196.1	2	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819789	0.32145	.	.	ENSG00000115145	ENST00000263904	T	0.20200	2.09	6.06	6.06	0.98353	.	0.880466	0.10199	N	0.703658	T	0.28995	0.0720	M	0.72894	2.215	0.58432	D	0.999995	B	0.26512	0.151	B	0.25291	0.059	T	0.46871	-0.9160	10	0.06625	T	0.88	-0.0884	20.613	0.99472	0.0:0.0:1.0:0.0	.	398	O75886	STAM2_HUMAN	K	398	ENSP00000263904:Q398K	ENSP00000263904:Q398K	Q	-	1	0	STAM2	152688683	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	7.003000	0.76310	2.876000	0.98609	0.655000	0.94253	CAA	STAM2	-	NULL	ENSG00000115145		0.363	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	176	0.00	0	G	NM_005843		152980437	152980437	-1	no_errors	ENST00000263904	ensembl	human	known	69_37n	missense	113	14.39	19	SNP	0.997	T
STAM2	10254	genome.wustl.edu	37	2	152989949	152989949	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:152989949C>A	ENST00000263904.4	-	9	1198	c.849G>T	c.(847-849)aaG>aaT	p.K283N		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	283					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GCTCTGATTTCTTAATTTCCT	0.328																																						dbGAP											0													114.0	125.0	121.0					2																	152989949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.849G>T	2.37:g.152989949C>A	ENSP00000263904:p.Lys283Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.K283N	ENST00000263904.4	37	c.849	CCDS2196.1	2	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457163	0.26161	.	.	ENSG00000115145	ENST00000263904	T	0.18338	2.22	5.79	3.74	0.42951	.	0.595355	0.18850	N	0.129422	T	0.15176	0.0366	M	0.61703	1.905	0.35462	D	0.796629	B;B	0.27823	0.03;0.19	B;B	0.28011	0.085;0.058	T	0.07233	-1.0783	10	0.19147	T	0.46	-13.5541	5.4275	0.16433	0.1728:0.6394:0.0:0.1878	.	283;283	O75886-2;O75886	.;STAM2_HUMAN	N	283	ENSP00000263904:K283N	ENSP00000263904:K283N	K	-	3	2	STAM2	152698195	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.357000	0.20199	2.718000	0.92993	0.655000	0.94253	AAG	STAM2	-	NULL	ENSG00000115145		0.328	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	292	0.00	0	C	NM_005843		152989949	152989949	-1	no_errors	ENST00000263904	ensembl	human	known	69_37n	missense	196	15.88	37	SNP	1.000	A
STAP1	26228	genome.wustl.edu	37	4	68447054	68447054	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:68447054C>A	ENST00000265404.2	+	5	477	c.395C>A	c.(394-396)cCt>cAt	p.P132H	STAP1_ENST00000396225.1_Missense_Mutation_p.P132H	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	132					intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCACTCCTACCTGGGCAAGTA	0.413																																						dbGAP											0													133.0	126.0	128.0					4																	68447054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.395C>A	4.37:g.68447054C>A	ENSP00000265404:p.Pro132His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.P132H	ENST00000265404.2	37	c.395	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998476	0.74818	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.33216	1.42;1.42	5.63	5.63	0.86233	.	0.056148	0.64402	D	0.000001	T	0.56746	0.2006	M	0.78049	2.395	0.51012	D	0.999905	D	0.76494	0.999	D	0.71870	0.975	T	0.59268	-0.7486	10	0.87932	D	0	-12.117	15.5476	0.76118	0.0:1.0:0.0:0.0	.	132	Q9ULZ2	STAP1_HUMAN	H	132	ENSP00000265404:P132H;ENSP00000379527:P132H	ENSP00000265404:P132H	P	+	2	0	STAP1	68129649	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.976000	0.56867	2.826000	0.97356	0.655000	0.94253	CCT	STAP1	-	NULL	ENSG00000035720		0.413	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	285	0.00	0	C	NM_012108		68447054	68447054	+1	no_errors	ENST00000265404	ensembl	human	known	69_37n	missense	262	17.35	55	SNP	1.000	A
STARD4	134429	genome.wustl.edu	37	5	110836564	110836564	+	Intron	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:110836564T>G	ENST00000296632.3	-	5	532				STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000502322.1_3'UTR|STARD4_ENST00000512160.1_Intron	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4						lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TCCCTAGAGTTTAGCACTTGC	0.348																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.397+135A>C	5.37:g.110836564T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TN9	RNA	SNP	-	NULL	ENST00000296632.3	37	NULL	CCDS4104.1	5																																																																																			STARD4	-	-	ENSG00000164211		0.348	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD4	HGNC	protein_coding	OTTHUMT00000250720.1	22	0.00	0	T	NM_139164		110836564	110836564	-1	no_errors	ENST00000510346	ensembl	human	known	69_37n	rna	16	23.81	5	SNP	0.000	G
STARD9	57519	genome.wustl.edu	37	15	42978159	42978159	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42978159C>T	ENST00000290607.7	+	23	4440	c.4383C>T	c.(4381-4383)agC>agT	p.S1461S		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	1461					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						ACAATTCTAGCGTATCAAACG	0.527																																						dbGAP											0													92.0	89.0	90.0					15																	42978159		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.4383C>T	15.37:g.42978159C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1461	ENST00000290607.7	37	c.4383	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.527	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	71	0.00	0	C			42978159	42978159	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	0.000	T
STAT6	6778	genome.wustl.edu	37	12	57501096	57501096	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:57501096C>T	ENST00000300134.3	-	4	582	c.257G>A	c.(256-258)aGc>aAc	p.S86N	STAT6_ENST00000454075.3_Splice_Site_p.S86N|STAT6_ENST00000538913.2_5'UTR|STAT6_ENST00000537215.2_5'UTR|STAT6_ENST00000543873.2_Splice_Site_p.S86N|STAT6_ENST00000556155.1_Splice_Site_p.S86N	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	86					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGATATATGCTCTACAGAAA	0.448																																						dbGAP											0													95.0	98.0	97.0					12																	57501096		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.256-1G>A	12.37:g.57501096C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S86N	ENST00000300134.3	37	c.257	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	7.606	0.673708	0.14841	.	.	ENSG00000166888	ENST00000300134;ENST00000543873;ENST00000556155;ENST00000454075;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499;ENST00000553397;ENST00000554663;ENST00000554825	T;T;T;T;T;T;T;T;T;T	0.51325	0.74;0.74;0.74;0.74;0.74;0.71;0.74;0.74;0.74;0.74	5.18	0.704	0.18121	STAT transcription factor, protein interaction (4);	0.483407	0.23017	N	0.052894	T	0.18383	0.0441	N	0.11064	0.09	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.23048	-1.0199	10	0.02654	T	1	-3.9996	4.3641	0.11216	0.0:0.4168:0.3696:0.2136	.	86;86	A8K4S9;P42226	.;STAT6_HUMAN	N	86;86;86;86;86;86;68;86;86;86;86	ENSP00000300134:S86N;ENSP00000438451:S86N;ENSP00000451742:S86N;ENSP00000401486:S86N;ENSP00000452394:S86N;ENSP00000452373:S68N;ENSP00000451074:S86N;ENSP00000452203:S86N;ENSP00000450665:S86N;ENSP00000451209:S86N	ENSP00000300134:S86N	S	-	2	0	STAT6	55787363	0.999000	0.42202	0.993000	0.49108	0.636000	0.38137	0.386000	0.20702	0.565000	0.29255	0.655000	0.94253	AGC	STAT6	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000166888		0.448	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	174	0.00	0	C	NM_003153	Missense_Mutation	57501096	57501096	-1	no_errors	ENST00000300134	ensembl	human	known	69_37n	missense	88	31.78	41	SNP	0.998	T
STATH	6779	genome.wustl.edu	37	4	70866651	70866651	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:70866651A>C	ENST00000246895.4	+	5	285	c.174A>C	c.(172-174)caA>caC	p.Q58H	STATH_ENST00000381060.2_Missense_Mutation_p.Q48H	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	58	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						CACAATACCAACAATATACCT	0.378																																						dbGAP											0													229.0	205.0	213.0					4																	70866651		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.174A>C	4.37:g.70866651A>C	ENSP00000246895:p.Gln58His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKE9|B2R4F8	Missense_Mutation	SNP	pfam_Statherin	p.Q58H	ENST00000246895.4	37	c.174	CCDS3533.1	4	.	.	.	.	.	.	.	.	.	.	A	6.732	0.503839	0.12822	.	.	ENSG00000126549	ENST00000246895;ENST00000381060	.	.	.	2.56	-5.12	0.02893	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.10450	0.005;0.005	T	0.29518	-1.0009	7	0.87932	D	0	.	0.761	0.01007	0.1701:0.2435:0.3223:0.2642	.	48;58	A6NKE9;P02808	.;STAT_HUMAN	H	58;48	.	ENSP00000246895:Q58H	Q	+	3	2	STATH	70901240	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.118000	0.00596	-1.211000	0.02624	-1.577000	0.00868	CAA	STATH	-	pfam_Statherin	ENSG00000126549		0.378	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STATH	HGNC	protein_coding	OTTHUMT00000251550.1	468	0.00	0	A	NM_003154		70866651	70866651	+1	no_errors	ENST00000246895	ensembl	human	known	69_37n	missense	218	28.05	85	SNP	0.000	C
STAU1	6780	genome.wustl.edu	37	20	47739674	47739674	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47739674G>A	ENST00000371856.2	-	8	1331	c.921C>T	c.(919-921)ctC>ctT	p.L307L	STAU1_ENST00000371828.3_Silent_p.L232L|STAU1_ENST00000340954.7_Silent_p.L226L|STAU1_ENST00000371792.1_Silent_p.L224L|STAU1_ENST00000347458.5_Silent_p.L226L|STAU1_ENST00000371802.1_Silent_p.L232L|STAU1_ENST00000360426.4_Silent_p.L226L	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	307	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GCTCTGTGAGGAGCGTGTACT	0.612																																						dbGAP											0													88.0	70.0	76.0					20																	47739674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.921C>T	20.37:g.47739674G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.L307	ENST00000371856.2	37	c.921	CCDS13414.1	20																																																																																			STAU1	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000124214		0.612	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	124	0.00	0	G	NM_017453		47739674	47739674	-1	no_errors	ENST00000371856	ensembl	human	known	69_37n	silent	86	25.86	30	SNP	0.003	A
STIM1	6786	genome.wustl.edu	37	11	4104554	4104554	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:4104554G>A	ENST00000300737.4	+	10	1869	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_ENST00000533977.1_Missense_Mutation_p.E261K|STIM1_ENST00000527651.1_Missense_Mutation_p.E434K	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	434	SOAR/CAD.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582																																						dbGAP											0													95.0	87.0	89.0					11																	4104554		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.1300G>A	11.37:g.4104554G>A	ENSP00000300737:p.Glu434Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQJ4|Q8N382	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E434K	ENST00000300737.4	37	c.1300	CCDS7749.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.183147	0.94885	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977	T;D;T	0.87966	-1.33;-2.32;-1.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.75484	0.546;0.986	D	0.93930	0.7213	10	0.87932	D	0	-18.9901	18.7957	0.91993	0.0:0.0:1.0:0.0	.	434;434	E9PQJ4;Q13586	.;STIM1_HUMAN	K	434;434;261	ENSP00000300737:E434K;ENSP00000436208:E434K;ENSP00000434767:E261K	ENSP00000300737:E434K	E	+	1	0	STIM1	4061130	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.416000	0.97383	2.698000	0.92095	0.557000	0.71058	GAG	STIM1	-	NULL	ENSG00000167323		0.582	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIM1	HGNC	protein_coding	OTTHUMT00000257196.1	148	0.00	0	G	NM_003156		4104554	4104554	+1	no_errors	ENST00000300737	ensembl	human	known	69_37n	missense	139	15.76	26	SNP	1.000	A
STIM2	57620	genome.wustl.edu	37	4	27010432	27010432	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:27010432C>T	ENST00000467011.1	+	10	1722	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	STIM2_ENST00000382009.3_Missense_Mutation_p.R528C|STIM2_ENST00000465503.1_Missense_Mutation_p.R441C|STIM2_ENST00000467087.1_Missense_Mutation_p.R433C|STIM2_ENST00000412829.2_Missense_Mutation_p.R520C|STIM2_ENST00000237364.5_Missense_Mutation_p.R520C	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	433					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACGACTTTTTCGCTGGCAACA	0.433																																						dbGAP											0													75.0	77.0	76.0					4																	27010432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1297C>T	4.37:g.27010432C>T	ENSP00000419383:p.Arg433Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.R528C	ENST00000467011.1	37	c.1582	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987034	0.93106	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	D;D;D;D;D;D;D;D	0.95001	-3.49;-3.51;-3.46;-3.58;-3.49;-3.51;-3.24;-2.8	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.993;0.993;0.997	D	0.97041	0.9757	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	433;520;528;520	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	C	433;528;520;433;520;441;141;35	ENSP00000419073:R433C;ENSP00000371439:R528C;ENSP00000237364:R520C;ENSP00000419383:R433C;ENSP00000404812:R520C;ENSP00000417569:R441C;ENSP00000420113:R141C;ENSP00000419536:R35C	ENSP00000237364:R520C	R	+	1	0	STIM2	26619530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.605000	0.67634	2.885000	0.99019	0.655000	0.94253	CGC	STIM2	-	NULL	ENSG00000109689		0.433	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	95	0.00	0	C	NM_020860		27010432	27010432	+1	no_errors	ENST00000382009	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	1.000	T
STK24	8428	genome.wustl.edu	37	13	99171581	99171581	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:99171581C>A	ENST00000376547.3	-	2	370	c.225G>T	c.(223-225)gaG>gaT	p.E75D	STK24_ENST00000397517.2_Missense_Mutation_p.E63D|STK24_ENST00000539966.1_Missense_Mutation_p.E63D|STK24_ENST00000481288.1_5'UTR	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGTCCTCTATCTCATCTTCAG	0.408																																						dbGAP											0													263.0	239.0	247.0					13																	99171581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.225G>T	13.37:g.99171581C>A	ENSP00000365730:p.Glu75Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O14840|Q5JV92	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E75D	ENST00000376547.3	37	c.225	CCDS9488.1	13	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689562	0.29962	.	.	ENSG00000102572	ENST00000397517;ENST00000376547;ENST00000539966;ENST00000376533;ENST00000543110	T;T;T	0.66460	-0.21;-0.21;-0.21	5.54	3.54	0.40534	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	U	0.000024	T	0.47764	0.1463	L	0.28192	0.835	0.80722	D	1	B;B;B	0.18013	0.001;0.018;0.025	B;B;B	0.31245	0.006;0.126;0.049	T	0.24693	-1.0153	10	0.11794	T	0.64	.	4.1094	0.10052	0.0:0.5189:0.0:0.4811	.	63;63;75	B4DR80;Q5U0E6;Q9Y6E0	.;.;STK24_HUMAN	D	63;75;63;51;63	ENSP00000380651:E63D;ENSP00000365730:E75D;ENSP00000442539:E63D	ENSP00000365716:E51D	E	-	3	2	STK24	97969582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.816000	0.27267	1.344000	0.45657	0.655000	0.94253	GAG	STK24	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000102572		0.408	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STK24	HGNC	protein_coding	OTTHUMT00000045549.2	323	0.00	0	C	NM_003576		99171581	99171581	-1	no_errors	ENST00000376547	ensembl	human	known	69_37n	missense	209	11.44	27	SNP	1.000	A
STK3	6788	genome.wustl.edu	37	8	99539065	99539065	+	Missense_Mutation	SNP	C	C	T	rs545643657	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:99539065C>T	ENST00000419617.2	-	10	1362	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	STK3_ENST00000523601.1_Missense_Mutation_p.E436K	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	408					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTACAGTTTTCGTGACTCTTA	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		17381	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													155.0	148.0	150.0					8																	99539065		1882	4112	5994	-	-	-	SO:0001583	missense	0			BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.1222G>A	8.37:g.99539065C>T	ENSP00000390500:p.Glu408Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom	p.E408K	ENST00000419617.2	37	c.1222	CCDS47900.1	8	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304074	0.40795	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.21734	1.99;1.99	5.42	4.54	0.55810	.	0.371203	0.27981	N	0.017070	T	0.11879	0.0289	N	0.14661	0.345	0.53688	D	0.99997	B;B	0.18863	0.001;0.031	B;B	0.12156	0.002;0.007	T	0.07028	-1.0794	10	0.08599	T	0.76	.	14.015	0.64519	0.0:0.9274:0.0:0.0726	.	408;436	Q13188;B3KYA7	STK3_HUMAN;.	K	408;436	ENSP00000390500:E408K;ENSP00000429744:E436K	ENSP00000390500:E408K	E	-	1	0	STK3	99608241	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.714000	0.68422	1.416000	0.47057	0.557000	0.71058	GAA	STK3	-	NULL	ENSG00000104375		0.378	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK3	HGNC	protein_coding	OTTHUMT00000379635.1	284	0.00	0	C	NM_006281		99539065	99539065	-1	no_errors	ENST00000419617	ensembl	human	known	69_37n	missense	181	29.02	74	SNP	1.000	T
STK31	56164	genome.wustl.edu	37	7	23793941	23793941	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:23793941G>A	ENST00000355870.3	+	10	1260	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	STK31_ENST00000433467.2_Missense_Mutation_p.D381N|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D358N|STK31_ENST00000354639.3_Missense_Mutation_p.D358N	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	381						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAGGCATGTCGACATCAGTGT	0.338																																						dbGAP											0													112.0	107.0	109.0					7																	23793941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1141G>A	7.37:g.23793941G>A	ENSP00000348132:p.Asp381Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.D381N	ENST00000355870.3	37	c.1141	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.564588	0.00903	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.96	3.5	0.40072	.	0.516808	0.21568	N	0.072449	T	0.02455	0.0075	N	0.00246	-1.78	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42015	-0.9476	10	0.02654	T	1	-2.06	7.9679	0.30111	0.8364:0.0:0.1636:0.0	.	381;381	B4DZ06;Q9BXU1	.;STK31_HUMAN	N	381;381;358;358	ENSP00000348132:D381N;ENSP00000411852:D381N;ENSP00000346660:D358N;ENSP00000406146:D358N	ENSP00000346660:D358N	D	+	1	0	STK31	23760466	0.044000	0.20184	0.445000	0.26908	0.017000	0.09413	2.120000	0.41968	1.071000	0.40834	-0.438000	0.05819	GAC	STK31	-	NULL	ENSG00000196335		0.338	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	235	0.00	0	G	NM_031414		23793941	23793941	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	missense	141	29.85	60	SNP	0.135	A
STK33	65975	genome.wustl.edu	37	11	8478949	8478949	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:8478949C>A	ENST00000447869.1	-	5	1554	c.636G>T	c.(634-636)gaG>gaT	p.E212D	STK33_ENST00000534493.1_Missense_Mutation_p.E171D|STK33_ENST00000358872.3_Missense_Mutation_p.E25D|STK33_ENST00000396672.1_Missense_Mutation_p.E212D|STK33_ENST00000396673.1_Missense_Mutation_p.E212D|STK33_ENST00000315204.1_Missense_Mutation_p.E212D			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGTCTCATTCTCTGAGAAAT	0.383																																						dbGAP											0													146.0	136.0	140.0					11																	8478949		2201	4296	6497	-	-	-	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.636G>T	11.37:g.8478949C>A	ENSP00000416750:p.Glu212Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E212D	ENST00000447869.1	37	c.636	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182106	0.78677	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559	T;T;T;T;T;T;T;D;D	0.84873	1.66;1.66;1.66;1.66;1.66;1.66;1.51;-1.91;-1.91	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055265	0.64402	D	0.000001	D	0.91686	0.7372	M	0.83384	2.64	0.48395	D	0.999641	D	0.89917	1.0	D	0.91635	0.999	D	0.92297	0.5846	10	0.87932	D	0	.	10.2253	0.43222	0.0:0.8986:0.0:0.1014	.	212	Q9BYT3	STK33_HUMAN	D	212;212;212;25;212;171;124;171;171	ENSP00000416750:E212D;ENSP00000320754:E212D;ENSP00000379905:E212D;ENSP00000351743:E25D;ENSP00000379906:E212D;ENSP00000436418:E171D;ENSP00000436905:E124D;ENSP00000391362:E171D;ENSP00000411510:E171D	ENSP00000320754:E212D	E	-	3	2	STK33	8435525	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.287000	0.43505	2.256000	0.74724	0.460000	0.39030	GAG	STK33	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000130413		0.383	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	339	0.00	0	C	NM_030906		8478949	8478949	-1	no_errors	ENST00000315204	ensembl	human	known	69_37n	missense	202	11.40	26	SNP	1.000	A
STK4	6789	genome.wustl.edu	37	20	43607180	43607180	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43607180C>A	ENST00000372806.3	+	3	308	c.213C>A	c.(211-213)atC>atA	p.I71I	STK4_ENST00000396731.4_Silent_p.I71I|STK4_ENST00000499879.2_Silent_p.I71I|STK4_ENST00000372801.1_Silent_p.I71I	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGGAGATAATCAAAGAAATCT	0.413																																					GBM(187;1039 2137 11798 21916 33213)	dbGAP											0													110.0	109.0	110.0					20																	43607180		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.213C>A	20.37:g.43607180C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom	p.I71	ENST00000372806.3	37	c.213	CCDS13341.1	20																																																																																			STK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101109		0.413	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	220	0.00	0	C	NM_006282		43607180	43607180	+1	no_errors	ENST00000372806	ensembl	human	known	69_37n	silent	138	10.90	17	SNP	1.000	A
STMN4	81551	genome.wustl.edu	37	8	27094410	27094410	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:27094410C>T	ENST00000265770.7	-	6	659	c.523G>A	c.(523-525)Gag>Aag	p.E175K	STMN4_ENST00000350889.4_Missense_Mutation_p.E202K|STMN4_ENST00000519997.1_3'UTR|STMN4_ENST00000523048.1_3'UTR			Q9H169	STMN4_HUMAN	stathmin-like 4	175	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	CGCACCTCCTCGGCGTGCTTG	0.572																																						dbGAP											0													68.0	58.0	61.0					8																	27094410		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.523G>A	8.37:g.27094410C>T	ENSP00000265770:p.Glu175Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin	p.E202K	ENST00000265770.7	37	c.604		8	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257844	0.59321	.	.	ENSG00000015592	ENST00000350889;ENST00000265770	.	.	.	5.03	5.03	0.67393	.	0.152010	0.64402	D	0.000020	T	0.47284	0.1437	.	.	.	0.80722	D	1	D;D	0.65815	0.988;0.995	B;B	0.41723	0.273;0.365	T	0.50583	-0.8811	8	0.42905	T	0.14	-1.8616	15.8843	0.79232	0.0:1.0:0.0:0.0	.	175;202	Q9H169;Q9H169-2	STMN4_HUMAN;.	K	202;175	.	ENSP00000265770:E175K	E	-	1	0	STMN4	27150327	0.958000	0.32768	0.966000	0.40874	0.940000	0.58332	3.171000	0.50824	2.614000	0.88457	0.655000	0.94253	GAG	STMN4	-	pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin	ENSG00000015592		0.572	STMN4-006	KNOWN	basic|appris_principal	protein_coding	STMN4	HGNC	protein_coding	OTTHUMT00000375941.1	169	0.00	0	C	NM_030795		27094410	27094410	-1	no_errors	ENST00000350889	ensembl	human	known	69_37n	missense	88	25.83	31	SNP	0.948	T
STOML1	9399	genome.wustl.edu	37	15	74282711	74282711	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:74282711G>T	ENST00000316900.5	-	2	345	c.221C>A	c.(220-222)tCt>tAt	p.S74Y	STOML1_ENST00000316911.6_Missense_Mutation_p.S74Y|STOML1_ENST00000564777.1_Missense_Mutation_p.S74Y|STOML1_ENST00000541638.1_Missense_Mutation_p.S32Y|STOML1_ENST00000359750.4_Missense_Mutation_p.S74Y|STOML1_ENST00000561656.1_De_novo_Start_OutOfFrame	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	74						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AAACCAGCCAGAAATGGGGAA	0.562																																						dbGAP											0													66.0	66.0	66.0					15																	74282711		2198	4297	6495	-	-	-	SO:0001583	missense	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.221C>A	15.37:g.74282711G>T	ENSP00000319323:p.Ser74Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.S74Y	ENST00000316900.5	37	c.221	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357025	0.82243	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.97688	-3.21;-3.32;-3.17;-4.49	5.01	5.01	0.66863	.	0.066389	0.64402	D	0.000009	D	0.97598	0.9213	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.77557	0.968;0.99;0.98;0.99;0.968;0.968	D	0.98900	1.0776	10	0.87932	D	0	-9.3821	15.8044	0.78481	0.0:0.0:1.0:0.0	.	32;74;74;74;74;74	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	Y	74;74;32;74	ENSP00000319323:S74Y;ENSP00000319384:S74Y;ENSP00000442478:S32Y;ENSP00000352788:S74Y	ENSP00000319323:S74Y	S	-	2	0	STOML1	72069764	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	8.256000	0.89848	2.338000	0.79540	0.555000	0.69702	TCT	STOML1	-	NULL	ENSG00000067221		0.562	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1	449	0.00	0	G	NM_004809		74282711	74282711	-1	no_errors	ENST00000316900	ensembl	human	known	69_37n	missense	253	11.23	32	SNP	1.000	T
GTF2A1L	11036	genome.wustl.edu	37	2	48873868	48873868	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:48873868G>T	ENST00000403751.3	+	6	702	c.665G>T	c.(664-666)gGa>gTa	p.G222V	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.G926V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.G926V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.G926V|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.G879V|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.G188V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.G926V	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	222					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATCTCCTGGAAATGAGCAT	0.423																																						dbGAP											0													113.0	102.0	105.0					2																	48873868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.665G>T	2.37:g.48873868G>T	ENSP00000384597:p.Gly222Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.G926V	ENST00000403751.3	37	c.2777	CCDS46281.1	2	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203710	0.38905	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.58210	2.84;2.87;2.84;2.84;3.04;0.35	5.29	2.49	0.30216	.	0.491654	0.19933	N	0.102804	T	0.55529	0.1926	L	0.56769	1.78	0.36759	D	0.88316	D;B;P;B;B	0.55172	0.97;0.025;0.647;0.294;0.053	P;B;B;B;B	0.57009	0.811;0.013;0.291;0.133;0.049	T	0.56950	-0.7894	10	0.33141	T	0.24	.	4.2882	0.10865	0.0812:0.293:0.4747:0.1511	.	188;879;926;222;926	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	V	926;926;926;926;879;221;231;188;222	ENSP00000385499:G926V;ENSP00000385701:G926V;ENSP00000378236:G926V;ENSP00000311493:G926V;ENSP00000378234:G879V;ENSP00000396702:G231V	ENSP00000384597:G222V	G	+	2	0	STON1-GTF2A1L;GTF2A1L	48727372	0.053000	0.20554	0.240000	0.24138	0.328000	0.28507	0.407000	0.21049	0.359000	0.24239	0.591000	0.81541	GGA	STON1-GTF2A1L	-	pfam_TFIIA_asu/bsu	ENSG00000068781		0.423	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323852.4	246	0.00	0	G	NM_006872		48873868	48873868	+1	no_errors	ENST00000309827	ensembl	human	known	69_37n	missense	149	14.86	26	SNP	0.406	T
STOX2	56977	genome.wustl.edu	37	4	184930789	184930789	+	Silent	SNP	C	C	T	rs573930376		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:184930789C>T	ENST00000308497.4	+	3	2233	c.798C>T	c.(796-798)ttC>ttT	p.F266F	STOX2_ENST00000438269.1_Silent_p.F266F	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	266					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAAAAAAATTCGGGCTAAAGT	0.408																																						dbGAP											0													22.0	24.0	23.0					4																	184930789		1820	4079	5899	-	-	-	SO:0001819	synonymous_variant	0			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.798C>T	4.37:g.184930789C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U4|Q9NPS8	Silent	SNP	pfam_Storkhead-box_winged-helix	p.F266	ENST00000308497.4	37	c.798	CCDS47167.1	4																																																																																			STOX2	-	NULL	ENSG00000173320		0.408	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	39	0.00	0	C	NM_020225		184930789	184930789	+1	no_errors	ENST00000308497	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	0.831	T
STRA6	64220	genome.wustl.edu	37	15	74494642	74494642	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:74494642G>T	ENST00000323940.5	-	2	231				RP11-60L3.1_ENST00000561332.1_RNA|STRA6_ENST00000416286.3_Intron|STRA6_ENST00000449139.2_Intron|RP11-60L3.1_ENST00000558645.1_RNA|STRA6_ENST00000574278.1_Intron|STRA6_ENST00000574439.1_Intron|STRA6_ENST00000395105.4_Intron|STRA6_ENST00000423167.2_Intron|STRA6_ENST00000535552.1_Intron|STRA6_ENST00000432245.2_Intron|RP11-60L3.1_ENST00000560148.1_RNA|STRA6_ENST00000563965.1_Intron	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6						adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCAGGCGAGAGAAAAAAAAAG	0.473																																						dbGAP											0													28.0	29.0	28.0					15																	74494642		2198	4297	6495	-	-	-	SO:0001627	intron_variant	0			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.15-19C>A	15.37:g.74494642G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	RNA	SNP	-	NULL	ENST00000323940.5	37	NULL	CCDS10261.1	15																																																																																			STRA6	-	-	ENSG00000137868		0.473	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	65	0.00	0	G			74494642	74494642	-1	no_errors	ENST00000573456	ensembl	human	known	69_37n	rna	58	12.86	9	SNP	0.005	T
STRAP	11171	genome.wustl.edu	37	12	16036560	16036560	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:16036560A>G	ENST00000419869.2	+	2	511	c.198A>G	c.(196-198)acA>acG	p.T66T	STRAP_ENST00000538352.1_Intron|STRAP_ENST00000025399.6_Silent_p.T79T	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	66					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GGGGTGCAACACTGAATAAGG	0.448																																						dbGAP											0													79.0	69.0	72.0					12																	16036560		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.198A>G	12.37:g.16036560A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T79	ENST00000419869.2	37	c.237	CCDS8676.1	12																																																																																			STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.448	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	194	0.00	0	A	NM_007178		16036560	16036560	+1	no_errors	ENST00000025399	ensembl	human	known	69_37n	silent	128	13.42	20	SNP	0.724	G
STRN3	29966	genome.wustl.edu	37	14	31405748	31405748	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:31405748C>T	ENST00000357479.5	-	6	995	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	STRN3_ENST00000355683.5_Missense_Mutation_p.E267K	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	267					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GGGATGCCTTCGATCATGTCA	0.353																																						dbGAP											0													187.0	169.0	175.0					14																	31405748		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.799G>A	14.37:g.31405748C>T	ENSP00000350071:p.Glu267Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E267K	ENST00000357479.5	37	c.799	CCDS41938.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.410351|4.410351	0.83340|0.83340	.|.	.|.	ENSG00000196792|ENSG00000196792	ENST00000355683;ENST00000357479|ENST00000556577	T;T|.	0.62941|.	-0.01;2.44|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.095977|.	0.64402|.	D|.	0.000001|.	T|T	0.67896|0.67896	0.2942|0.2942	L|L	0.43152|0.43152	1.355|1.355	0.50039|0.50039	D|D	0.999845|0.999845	P;P|.	0.43519|.	0.809;0.783|.	B;B|.	0.33750|.	0.169;0.105|.	T|T	0.63879|0.63879	-0.6537|-0.6537	10|5	0.27082|.	T|.	0.32|.	-0.8603|-0.8603	19.0451|19.0451	0.93016|0.93016	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267;267|.	Q13033-2;Q13033|.	.;STRN3_HUMAN|.	K|Q	267|27	ENSP00000347909:E267K;ENSP00000350071:E267K|.	ENSP00000347909:E267K|.	E|R	-|-	1|2	0|0	STRN3|STRN3	30475499|30475499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.471000|6.471000	0.73562|0.73562	2.489000|2.489000	0.83994|0.83994	0.557000|0.557000	0.71058|0.71058	GAA|CGA	STRN3	-	NULL	ENSG00000196792		0.353	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STRN3	HGNC	protein_coding	OTTHUMT00000409713.1	368	0.00	0	C	NM_014574		31405748	31405748	-1	no_errors	ENST00000357479	ensembl	human	known	69_37n	missense	253	11.81	34	SNP	1.000	T
STT3B	201595	genome.wustl.edu	37	3	31677714	31677714	+	3'UTR	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:31677714A>C	ENST00000295770.2	+	0	2848					NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)						co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AAAAAAATAAAATTGGCTTGT	0.368																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.*158A>C	3.37:g.31677714A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JZ4|Q96KY7	RNA	SNP	-	NULL	ENST00000295770.2	37	NULL	CCDS2650.1	3																																																																																			STT3B	-	-	ENSG00000163527		0.368	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	44	0.00	0	A	NM_178862		31677714	31677714	+1	no_errors	ENST00000463044	ensembl	human	known	69_37n	rna	30	26.83	11	SNP	1.000	C
STX17	55014	genome.wustl.edu	37	9	102730876	102730876	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:102730876G>T	ENST00000259400.6	+	8	966	c.830G>T	c.(829-831)aGa>aTa	p.R277I	STX17_ENST00000534052.1_Missense_Mutation_p.R277I|STX17_ENST00000525640.1_Missense_Mutation_p.R277I|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	277					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TTGATACAAAGAAAGAAACAG	0.453																																						dbGAP											0													72.0	78.0	76.0					9																	102730876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.830G>T	9.37:g.102730876G>T	ENSP00000259400:p.Arg277Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXC2	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R277I	ENST00000259400.6	37	c.830	CCDS6745.1	9	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393145	0.62066	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	.	.	.	5.47	5.47	0.80525	.	0.052952	0.64402	D	0.000001	T	0.64438	0.2598	L	0.40543	1.245	0.80722	D	1	D	0.65815	0.995	P	0.62014	0.897	T	0.66460	-0.5918	9	0.72032	D	0.01	-6.8557	11.9032	0.52694	0.0795:0.0:0.9204:0.0	.	277	P56962	STX17_HUMAN	I	277	.	ENSP00000259400:R277I	R	+	2	0	STX17	101770697	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	4.746000	0.62133	2.571000	0.86741	0.655000	0.94253	AGA	STX17	-	NULL	ENSG00000136874		0.453	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	477	0.00	0	G	NM_017919		102730876	102730876	+1	no_errors	ENST00000259400	ensembl	human	known	69_37n	missense	323	10.25	37	SNP	1.000	T
STX1A	6804	genome.wustl.edu	37	7	73123005	73123005	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:73123005C>T	ENST00000222812.3	-	3	148	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	STX1A_ENST00000395154.3_Missense_Mutation_p.R41Q|STX1A_ENST00000395156.3_Missense_Mutation_p.R41Q|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_Missense_Mutation_p.R41Q	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	41					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATGAAGCCTCGAATCTCCTC	0.602																																						dbGAP											0													103.0	75.0	84.0					7																	73123005		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.122G>A	7.37:g.73123005C>T	ENSP00000222812:p.Arg41Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R41Q	ENST00000222812.3	37	c.122	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187642	0.78789	.	.	ENSG00000106089	ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.55	4.55	0.56014	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	M	0.74258	2.255	0.80722	D	1	D;P;P	0.56287	0.975;0.862;0.943	P;B;B	0.45998	0.5;0.187;0.401	T	0.09574	-1.0668	10	0.28530	T	0.3	-18.0671	14.8473	0.70270	0.0:1.0:0.0:0.0	.	41;41;41	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	Q	41	ENSP00000222812:R41Q;ENSP00000378585:R41Q;ENSP00000378583:R41Q;ENSP00000378584:R41Q	ENSP00000222812:R41Q	R	-	2	0	STX1A	72760941	1.000000	0.71417	0.964000	0.40570	0.966000	0.64601	5.796000	0.69080	2.383000	0.81215	0.462000	0.41574	CGA	STX1A	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000106089		0.602	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1	88	0.00	0	C	NM_004603		73123005	73123005	-1	no_errors	ENST00000222812	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.999	T
STX6	10228	genome.wustl.edu	37	1	180957388	180957388	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:180957388C>T	ENST00000258301.5	-	6	820	c.583G>A	c.(583-585)Gag>Aag	p.E195K	STX6_ENST00000469135.1_5'UTR|STX6_ENST00000542060.1_Missense_Mutation_p.E94K	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	195	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GCCTGTTCCTCCAGCTCCCCT	0.567																																						dbGAP											0													125.0	111.0	116.0					1																	180957388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.583G>A	1.37:g.180957388C>T	ENSP00000258301:p.Glu195Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E195K	ENST00000258301.5	37	c.583	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.276452	0.95459	.	.	ENSG00000135823	ENST00000258301;ENST00000542060	.	.	.	5.52	5.52	0.82312	Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.050456	0.85682	D	0.000000	T	0.59797	0.2220	M	0.64676	1.99	0.42398	D	0.992550	P;P	0.43231	0.801;0.607	B;B	0.40741	0.339;0.3	T	0.66492	-0.5910	8	0.46703	T	0.11	-21.6669	19.0382	0.92987	0.0:1.0:0.0:0.0	.	94;195	B4DR17;O43752	.;STX6_HUMAN	K	195;94	.	ENSP00000258301:E195K	E	-	1	0	STX6	179224011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.365000	0.79537	2.569000	0.86673	0.655000	0.94253	GAG	STX6	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000135823		0.567	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	182	0.00	0	C	NM_005819		180957388	180957388	-1	no_errors	ENST00000258301	ensembl	human	known	69_37n	missense	85	39.29	55	SNP	1.000	T
STXBP1	6812	genome.wustl.edu	37	9	130427552	130427552	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:130427552C>A	ENST00000373299.1	+	8	720	c.605C>A	c.(604-606)gCt>gAt	p.A202D	STXBP1_ENST00000373302.3_Missense_Mutation_p.A202D	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	202					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GCCCTGCTGGCTCAGCTAATC	0.547																																						dbGAP											0													225.0	183.0	197.0					9																	130427552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.605C>A	9.37:g.130427552C>A	ENSP00000362396:p.Ala202Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.A202D	ENST00000373299.1	37	c.605	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368418	0.82463	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000373299	D;D	0.88046	-2.33;-2.33	5.34	4.45	0.53987	.	0.048700	0.85682	D	0.000000	D	0.94840	0.8333	H	0.95917	3.74	0.53688	D	0.999978	D;P	0.54397	0.966;0.757	D;P	0.64687	0.928;0.816	D	0.95433	0.8518	10	0.72032	D	0.01	-14.8907	11.8432	0.52366	0.0:0.9146:0.0:0.0854	.	202;202	P61764;P61764-2	STXB1_HUMAN;.	D	156;202;202	ENSP00000362399:A202D;ENSP00000362396:A202D	ENSP00000362396:A202D	A	+	2	0	STXBP1	129467373	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.280000	0.78610	1.265000	0.44215	-0.258000	0.10820	GCT	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.547	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	207	0.00	0	C	NM_003165		130427552	130427552	+1	no_errors	ENST00000373299	ensembl	human	known	69_37n	missense	105	15.32	19	SNP	1.000	A
STXBP3	6814	genome.wustl.edu	37	1	109340848	109340848	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:109340848G>T	ENST00000370008.3	+	16	1488	c.1438G>T	c.(1438-1440)Gat>Tat	p.D480Y		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	480					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTTATCAAAGATATTATGGA	0.348																																						dbGAP											0													87.0	94.0	92.0					1																	109340848		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1438G>T	1.37:g.109340848G>T	ENSP00000359025:p.Asp480Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D480Y	ENST00000370008.3	37	c.1438	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343165	0.82022	.	.	ENSG00000116266	ENST00000370008	T	0.76448	-1.02	5.52	5.52	0.82312	.	0.095752	0.64402	D	0.000001	D	0.86506	0.5949	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86800	0.1991	10	0.54805	T	0.06	-19.3908	17.612	0.88056	0.0:0.0:1.0:0.0	.	480	O00186	STXB3_HUMAN	Y	480	ENSP00000359025:D480Y	ENSP00000359025:D480Y	D	+	1	0	STXBP3	109142371	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.589000	0.90817	2.594000	0.87642	0.585000	0.79938	GAT	STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.348	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	192	0.00	0	G	NM_007269		109340848	109340848	+1	no_errors	ENST00000370008	ensembl	human	known	69_37n	missense	109	24.31	35	SNP	1.000	T
STXBP5	134957	genome.wustl.edu	37	6	147581807	147581807	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:147581807G>A	ENST00000321680.6	+	5	488	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	STXBP5_ENST00000367481.3_Missense_Mutation_p.R163Q|STXBP5_ENST00000367480.3_Missense_Mutation_p.R163Q|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.R163Q	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	163					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGCACTGAACGAGGTAATATA	0.378																																						dbGAP											0													115.0	109.0	111.0					6																	147581807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.488G>A	6.37:g.147581807G>A	ENSP00000321826:p.Arg163Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.R163Q	ENST00000321680.6	37	c.488	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.838610	0.97009	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.65364	1.6;5.04;1.6;-0.15	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.77557	0.99;0.884	T	0.66748	-0.5845	10	0.22706	T	0.39	.	19.7724	0.96370	0.0:0.0:1.0:0.0	.	163;163	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	Q	163	ENSP00000356451:R163Q;ENSP00000441479:R163Q;ENSP00000321826:R163Q;ENSP00000356450:R163Q	ENSP00000321826:R163Q	R	+	2	0	STXBP5	147623500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.664000	0.90586	0.655000	0.94253	CGA	STXBP5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000164506		0.378	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	243	0.00	0	G			147581807	147581807	+1	no_errors	ENST00000321680	ensembl	human	known	69_37n	missense	149	29.58	63	SNP	1.000	A
STXBP5L	9515	genome.wustl.edu	37	3	120952485	120952485	+	Silent	SNP	C	C	T	rs189961487		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:120952485C>T	ENST00000273666.6	+	12	1405	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	STXBP5L_ENST00000472879.1_Silent_p.V378V|STXBP5L_ENST00000497029.1_Silent_p.V378V|STXBP5L_ENST00000492541.1_Silent_p.V378V|STXBP5L_ENST00000471454.1_Silent_p.V378V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	378					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CCTATGCTGTCGTGGTACTTC	0.289													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17456	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													83.0	77.0	79.0					3																	120952485		1811	4070	5881	-	-	-	SO:0001819	synonymous_variant	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1134C>T	3.37:g.120952485C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1B4|Q6PIC3	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin	p.V378	ENST00000273666.6	37	c.1134	CCDS43137.1	3																																																																																			STXBP5L	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant	ENSG00000145087		0.289	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	515	0.00	0	C			120952485	120952485	+1	no_errors	ENST00000273666	ensembl	human	known	69_37n	silent	331	22.48	96	SNP	0.972	T
STXBP5L	9515	genome.wustl.edu	37	3	121097679	121097679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:121097679C>T	ENST00000273666.6	+	22	2636	c.2365C>T	c.(2365-2367)Cga>Tga	p.R789*	STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.R765*|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.R789*|STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.R765*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	789					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R789*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACCACCATTTCGAAAGGCCCA	0.403																																						dbGAP											1	Substitution - Nonsense(1)	kidney(1)											54.0	51.0	52.0					3																	121097679		1849	4101	5950	-	-	-	SO:0001587	stop_gained	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2365C>T	3.37:g.121097679C>T	ENSP00000273666:p.Arg789*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin	p.R789*	ENST00000273666.6	37	c.2365	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.895893	0.97916	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	.	.	.	5.07	4.16	0.48862	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-9.7102	12.5014	0.55957	0.3298:0.6702:0.0:0.0	.	.	.	.	X	789;765;765;789	.	ENSP00000273666:R789X	R	+	1	2	STXBP5L	122580369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.664000	0.54525	1.200000	0.43188	0.585000	0.79938	CGA	STXBP5L	-	NULL	ENSG00000145087		0.403	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	117	0.00	0	C			121097679	121097679	+1	no_errors	ENST00000273666	ensembl	human	known	69_37n	nonsense	70	14.63	12	SNP	1.000	T
SUCO	51430	genome.wustl.edu	37	1	172522454	172522454	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:172522454T>G	ENST00000263688.3	+	3	451	c.232T>G	c.(232-234)Tta>Gta	p.L78V	SUCO_ENST00000367723.4_Intron|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	78					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGGTTCAAATTTACCTATTTC	0.308																																						dbGAP											0													121.0	132.0	128.0					1																	172522454		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.232T>G	1.37:g.172522454T>G	ENSP00000263688:p.Leu78Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.L78V	ENST00000263688.3	37	c.232	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	T	9.556	1.117175	0.20795	.	.	ENSG00000094975	ENST00000263688	.	.	.	5.02	2.43	0.29744	.	.	.	.	.	T	0.08537	0.0212	N	0.24115	0.695	0.18873	N	0.999982	B;B	0.30068	0.267;0.131	B;B	0.25140	0.058;0.039	T	0.18587	-1.0332	8	0.49607	T	0.09	.	5.124	0.14875	0.1825:0.0:0.1899:0.6276	.	78;78	B4DZJ3;Q9UBS9	.;OSPT_HUMAN	V	78	.	ENSP00000263688:L78V	L	+	1	2	C1orf9	170789077	0.981000	0.34729	0.796000	0.32109	0.554000	0.35429	0.489000	0.22387	0.966000	0.38159	0.528000	0.53228	TTA	SUCO	-	NULL	ENSG00000094975		0.308	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	327	0.00	0	T	NM_016227		172522454	172522454	+1	no_errors	ENST00000263688	ensembl	human	known	69_37n	missense	216	11.11	27	SNP	0.795	G
SUCO	51430	genome.wustl.edu	37	1	172526833	172526833	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:172526833A>G	ENST00000263688.3	+	6	850	c.631A>G	c.(631-633)Aag>Gag	p.K211E	SUCO_ENST00000367723.4_Missense_Mutation_p.K369E|SUCO_ENST00000610051.1_Missense_Mutation_p.K174E|SUCO_ENST00000608151.1_Missense_Mutation_p.K370E	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	211					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TGGTAAAGGAAAGATAACAAA	0.313																																						dbGAP											0													71.0	73.0	72.0					1																	172526833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.631A>G	1.37:g.172526833A>G	ENSP00000263688:p.Lys211Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.K370E	ENST00000263688.3	37	c.1108	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358529	0.61403	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.67	5.67	0.87782	.	0.071974	0.56097	D	0.000031	T	0.28928	0.0718	N	0.24115	0.695	0.39066	D	0.960612	P;P;P;P	0.48503	0.751;0.911;0.89;0.911	B;P;B;P	0.45881	0.307;0.496;0.34;0.473	T	0.08534	-1.0717	9	0.22706	T	0.39	-15.5078	13.2658	0.60133	1.0:0.0:0.0:0.0	.	174;211;370;211	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	E	370;211	.	ENSP00000263688:K211E	K	+	1	0	C1orf9	170793456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.736000	0.68597	2.159000	0.67721	0.482000	0.46254	AAG	SUCO	-	NULL	ENSG00000094975		0.313	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	262	0.00	0	A	NM_016227		172526833	172526833	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	missense	157	27.98	61	SNP	1.000	G
SUCO	51430	genome.wustl.edu	37	1	172554177	172554177	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:172554177G>T	ENST00000263688.3	+	16	1737	c.1518G>T	c.(1516-1518)gtG>gtT	p.V506V	SUCO_ENST00000367723.4_Silent_p.V657V|SUCO_ENST00000610051.1_Silent_p.V469V|SUCO_ENST00000608151.1_Silent_p.V658V	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	506					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAAATATGGTGAATATTGCTG	0.308																																						dbGAP											0													70.0	73.0	72.0					1																	172554177		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1518G>T	1.37:g.172554177G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.V658	ENST00000263688.3	37	c.1974	CCDS1303.1	1																																																																																			SUCO	-	NULL	ENSG00000094975		0.308	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	222	0.00	0	G	NM_016227		172554177	172554177	+1	no_errors	ENST00000367723	ensembl	human	known	69_37n	silent	123	25.00	41	SNP	1.000	T
SUGT1	10910	genome.wustl.edu	37	13	53254191	53254191	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:53254191G>T	ENST00000343788.6	+	13	979	c.897G>T	c.(895-897)aaG>aaT	p.K299N	SUGT1_ENST00000535397.1_Missense_Mutation_p.K211N|SUGT1_ENST00000310528.8_Missense_Mutation_p.K267N	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	299	SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AAGAAGAAAAGAATGAAAAGT	0.348																																						dbGAP											0													91.0	95.0	94.0					13																	53254191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.897G>T	13.37:g.53254191G>T	ENSP00000367208:p.Lys299Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	pfam_SGS,pfam_CS_domain,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS-like_domain,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K299N	ENST00000343788.6	37	c.897	CCDS45050.1	13	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300766	0.60195	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.27557	1.66;1.72	5.39	2.2	0.27929	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.79108	0.962;0.989;0.992;0.982	T	0.37842	-0.9688	10	0.66056	D	0.02	-16.1959	4.8277	0.13425	0.3433:0.0:0.5225:0.1342	.	211;211;299;267	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	N	299;211;267	ENSP00000367208:K299N;ENSP00000308067:K267N	ENSP00000308067:K267N	K	+	3	2	SUGT1	52152192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.911000	0.39937	0.152000	0.19188	0.591000	0.81541	AAG	SUGT1	-	pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_SGS	ENSG00000165416		0.348	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUGT1	HGNC	protein_coding	OTTHUMT00000045104.2	273	0.00	0	G			53254191	53254191	+1	no_errors	ENST00000343788	ensembl	human	known	69_37n	missense	216	11.48	28	SNP	1.000	T
SULT1E1	6783	genome.wustl.edu	37	4	70719999	70719999	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:70719999C>T	ENST00000226444.3	-	4	417	c.305G>A	c.(304-306)aGa>aAa	p.R102K		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	102					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	CTTCACAATTCTAGGAGAATT	0.328																																						dbGAP											0													94.0	91.0	92.0					4																	70719999		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.305G>A	4.37:g.70719999C>T	ENSP00000226444:p.Arg102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6X5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R102K	ENST00000226444.3	37	c.305	CCDS3531.1	4	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809082	0.50421	.	.	ENSG00000109193	ENST00000226444	D	0.87103	-2.21	4.7	4.7	0.59300	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.95825	0.8641	H	0.97240	3.965	0.18873	N	0.999982	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90045	0.4145	10	0.87932	D	0	.	15.5431	0.76070	0.0:1.0:0.0:0.0	.	102;102	Q53X91;P49888	.;ST1E1_HUMAN	K	102	ENSP00000226444:R102K	ENSP00000226444:R102K	R	-	2	0	SULT1E1	70754588	0.244000	0.23889	0.137000	0.22149	0.188000	0.23474	4.675000	0.61619	2.621000	0.88768	0.655000	0.94253	AGA	SULT1E1	-	pfam_Sulfotransferase_dom	ENSG00000109193		0.328	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	HGNC	protein_coding	OTTHUMT00000251559.1	228	0.00	0	C	NM_005420		70719999	70719999	-1	no_errors	ENST00000226444	ensembl	human	known	69_37n	missense	179	10.50	21	SNP	0.096	T
SULT4A1	25830	genome.wustl.edu	37	22	44221916	44221916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:44221916C>A	ENST00000330884.4	-	7	940	c.820G>T	c.(820-822)Gga>Tga	p.G274*	SULT4A1_ENST00000540422.1_Nonsense_Mutation_p.G161*	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	274					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TCACACTTTCCCATCTTCTGT	0.418																																						dbGAP											0													185.0	166.0	172.0					22																	44221916		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"""Sulfotransferases, cytosolic"""	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.820G>T	22.37:g.44221916C>A	ENSP00000332565:p.Gly274*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N3|O43728	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.G274*	ENST00000330884.4	37	c.820	CCDS14051.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983077	0.74474	.	.	ENSG00000130540	ENST00000330884;ENST00000540422	.	.	.	5.63	4.62	0.57501	.	0.173986	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.6117	0.62083	0.0:0.9258:0.0:0.0742	.	.	.	.	X	274;161	.	ENSP00000332565:G274X	G	-	1	0	SULT4A1	42553249	1.000000	0.71417	0.999000	0.59377	0.713000	0.41058	5.852000	0.69488	1.378000	0.46305	-0.136000	0.14681	GGA	SULT4A1	-	pfam_Sulfotransferase_dom	ENSG00000130540		0.418	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	271	0.00	0	C	NM_014351		44221916	44221916	-1	no_errors	ENST00000330884	ensembl	human	known	69_37n	nonsense	181	11.71	24	SNP	1.000	A
SUMF2	25870	genome.wustl.edu	37	7	56141862	56141862	+	Intron	SNP	C	C	T	rs540560603	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:56141862C>T	ENST00000413756.1	+	4	362				SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000434526.2_Intron|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000437307.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTCTTTTTCGCAGTCTGTA	0.547											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0029	5008	,	,		15203	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													218.0	197.0	204.0					7																	56141862		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.340-5C>T	7.37:g.56141862C>T		Somatic	1013	WXS	Illumina GAIIx	Phase_IV	B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.S129L	ENST00000413756.1	37	c.386		7	.	.	.	.	.	.	.	.	.	.	c	5.588	0.293267	0.10567	.	.	ENSG00000129103	ENST00000451338	T	0.39787	1.06	3.87	1.36	0.22044	.	.	.	.	.	T	0.19446	0.0467	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25710	-1.0124	6	0.08381	T	0.77	.	7.3966	0.26939	0.0:0.2977:0.0:0.7023	.	.	.	.	L	129	ENSP00000410796:S129L	ENSP00000410796:S129L	S	+	2	0	SUMF2	56109356	0.000000	0.05858	0.092000	0.20876	0.431000	0.31685	0.270000	0.18607	0.278000	0.22164	-0.385000	0.06624	TCG	SUMF2	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000129103		0.547	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000341457.2	474	0.00	0	C	NM_015411		56141862	56141862	+1	no_start_codon:no_stop_codon	ENST00000451338	ensembl	human	novel	69_37n	missense	398	11.14	50	SNP	0.069	T
SUN2	25777	genome.wustl.edu	37	22	39146366	39146366	+	Intron	SNP	C	C	T	rs138314799	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:39146366C>T	ENST00000405510.1	-	6	783				SUN2_ENST00000405018.1_Silent_p.S149S|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Intron|SUN2_ENST00000406622.1_Intron|SUN2_ENST00000216064.4_Intron	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTGTCACTTTCGAGCCTCTTC	0.607																																						dbGAP											0													31.0	27.0	28.0					22																	39146366		2201	4299	6500	-	-	-	SO:0001627	intron_variant	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.425-41G>A	22.37:g.39146366C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S149	ENST00000405510.1	37	c.447	CCDS13978.1	22																																																																																			SUN2	-	NULL	ENSG00000100242		0.607	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	24	0.00	0	C	XM_039332		39146366	39146366	-1	no_errors	ENST00000405018	ensembl	human	novel	69_37n	silent	10	21.43	3	SNP	0.000	T
SUPT16H	11198	genome.wustl.edu	37	14	21826541	21826541	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21826541A>C	ENST00000216297.2	-	20	2685	c.2347T>G	c.(2347-2349)Ttc>Gtc	p.F783V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	783					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCTCAATGAAATTTTTAAAG	0.373																																						dbGAP											0													64.0	59.0	61.0					14																	21826541		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2347T>G	14.37:g.21826541A>C	ENSP00000216297:p.Phe783Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.F783V	ENST00000216297.2	37	c.2347	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773949	0.90108	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87063	0.6084	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90677	0.4602	9	0.72032	D	0.01	-8.6895	15.1658	0.72825	1.0:0.0:0.0:0.0	.	783	Q9Y5B9	SP16H_HUMAN	V	783	.	ENSP00000216297:F783V	F	-	1	0	SUPT16H	20896381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.325000	0.90007	2.228000	0.72767	0.533000	0.62120	TTC	SUPT16H	-	NULL	ENSG00000092201		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	258	0.00	0	A			21826541	21826541	-1	no_errors	ENST00000216297	ensembl	human	known	69_37n	missense	209	14.34	35	SNP	1.000	C
SUPT16H	11198	genome.wustl.edu	37	14	21838004	21838004	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21838004C>T	ENST00000216297.2	-	5	873	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	179					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGTTGAGCTCCCCATCCTCC	0.403																																						dbGAP											0													117.0	101.0	106.0					14																	21838004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.535G>A	14.37:g.21838004C>T	ENSP00000216297:p.Glu179Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.E179K	ENST00000216297.2	37	c.535	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.897331	0.97081	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	D	0.89485	-2.52	5.53	5.53	0.82687	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96679	0.9502	10	0.87932	D	0	-23.0166	18.2371	0.89952	0.0:1.0:0.0:0.0	.	179	Q9Y5B9	SP16H_HUMAN	K	179	ENSP00000216297:E179K	ENSP00000216297:E179K	E	-	1	0	SUPT16H	20907844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.113000	0.77095	2.607000	0.88179	0.655000	0.94253	GAG	SUPT16H	-	superfamily_Pept_M24_structural-domain	ENSG00000092201		0.403	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	165	0.00	0	C			21838004	21838004	-1	no_errors	ENST00000216297	ensembl	human	known	69_37n	missense	164	14.95	29	SNP	1.000	T
SUPT6H	6830	genome.wustl.edu	37	17	27008278	27008278	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:27008278A>G	ENST00000314616.6	+	12	1637	c.1354A>G	c.(1354-1356)Aag>Gag	p.K452E	SUPT6H_ENST00000347486.4_Missense_Mutation_p.K452E	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	452	Interaction with IWS1. {ECO:0000250}.|Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTTCAGGCTCAAGGATGTCCA	0.438																																						dbGAP											0													133.0	123.0	127.0					17																	27008278		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1354A>G	17.37:g.27008278A>G	ENSP00000319104:p.Lys452Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.K452E	ENST00000314616.6	37	c.1354	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000445	0.54147	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.39997	1.05;1.05	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.38612	0.1047	L	0.49455	1.56	0.80722	D	1	B	0.17268	0.021	B	0.15052	0.012	T	0.20806	-1.0264	10	0.15499	T	0.54	-27.5522	16.4504	0.83984	1.0:0.0:0.0:0.0	.	452	Q7KZ85	SPT6H_HUMAN	E	452	ENSP00000319104:K452E;ENSP00000338143:K452E	ENSP00000319104:K452E	K	+	1	0	SUPT6H	24032405	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.741000	0.91583	2.288000	0.76882	0.533000	0.62120	AAG	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.438	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	205	0.00	0	A	NM_003170		27008278	27008278	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	147	12.50	21	SNP	1.000	G
SUPT6H	6830	genome.wustl.edu	37	17	27015213	27015213	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:27015213C>T	ENST00000314616.6	+	24	3394	c.3111C>T	c.(3109-3111)atC>atT	p.I1037I	SUPT6H_ENST00000347486.4_Silent_p.I1037I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1037	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCTCAAGATCGACACGGCCT	0.577																																						dbGAP											0													127.0	118.0	121.0					17																	27015213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3111C>T	17.37:g.27015213C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.I1037	ENST00000314616.6	37	c.3111	CCDS32596.1	17																																																																																			SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	54	0.00	0	C	NM_003170		27015213	27015213	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.099	T
SUPV3L1	6832	genome.wustl.edu	37	10	70949174	70949174	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70949174G>A	ENST00000359655.4	+	5	784	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	242	Helicase ATP-binding.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGATCTTCGAAAAGAGTAA	0.358																																						dbGAP											0													80.0	77.0	78.0					10																	70949174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.724G>A	10.37:g.70949174G>A	ENSP00000352678:p.Glu242Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.E242K	ENST00000359655.4	37	c.724	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934102	0.52866	.	.	ENSG00000156502	ENST00000359655	T	0.16196	2.36	5.77	5.77	0.91146	.	0.098602	0.64402	D	0.000001	T	0.15869	0.0382	L	0.46947	1.48	0.54753	D	0.999987	B	0.15473	0.013	B	0.11329	0.006	T	0.06607	-1.0817	10	0.10636	T	0.68	-2.4787	14.4225	0.67193	0.0:0.2617:0.7383:0.0	.	242	Q8IYB8	SUV3_HUMAN	K	242	ENSP00000352678:E242K	ENSP00000352678:E242K	E	+	1	0	SUPV3L1	70619180	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.231000	0.65327	2.720000	0.93068	0.557000	0.71058	GAA	SUPV3L1	-	NULL	ENSG00000156502		0.358	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	113	0.00	0	G	NM_003171		70949174	70949174	+1	no_errors	ENST00000359655	ensembl	human	known	69_37n	missense	104	18.75	24	SNP	1.000	A
SUPV3L1	6832	genome.wustl.edu	37	10	70956768	70956768	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70956768C>A	ENST00000359655.4	+	8	1012	c.952C>A	c.(952-954)Cat>Aat	p.H318N		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	318	Helicase ATP-binding.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGAGGTTCATTTGTGTGG	0.388																																						dbGAP											0													205.0	183.0	190.0					10																	70956768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.952C>A	10.37:g.70956768C>A	ENSP00000352678:p.His318Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K301|O43630	Missense_Mutation	SNP	pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	p.H318N	ENST00000359655.4	37	c.952	CCDS7287.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.131659	0.94473	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	T;T	0.39787	1.06;1.25	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86300	0.1679	10	0.87932	D	0	-7.2146	19.5852	0.95487	0.0:1.0:0.0:0.0	.	318	Q8IYB8	SUV3_HUMAN	N	318;124	ENSP00000352678:H318N;ENSP00000409072:H124N	ENSP00000352678:H318N	H	+	1	0	SUPV3L1	70626774	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.674000	0.83992	2.634000	0.89283	0.586000	0.80456	CAT	SUPV3L1	-	NULL	ENSG00000156502		0.388	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPV3L1	HGNC	protein_coding	OTTHUMT00000048396.2	370	0.00	0	C	NM_003171		70956768	70956768	+1	no_errors	ENST00000359655	ensembl	human	known	69_37n	missense	288	10.56	34	SNP	1.000	A
SUSD1	64420	genome.wustl.edu	37	9	114864566	114864566	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114864566C>A	ENST00000374270.3	-	9	1344		c.e9-1		SUSD1_ENST00000374263.3_Splice_Site|SUSD1_ENST00000374264.2_Splice_Site	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1							integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGATCAACTTCTAAAAGACAA	0.358																																						dbGAP											0													38.0	39.0	39.0					9																	114864566		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1172-1G>T	9.37:g.114864566C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Splice_Site	SNP	-	e9-1	ENST00000374270.3	37	c.1172-1	CCDS6783.1	9	.	.	.	.	.	.	.	.	.	.	C	9.455	1.091694	0.20471	.	.	ENSG00000106868	ENST00000355396;ENST00000374270;ENST00000374263;ENST00000374264;ENST00000415074	.	.	.	4.31	2.18	0.27775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.398	0.21622	0.2116:0.5829:0.2055:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SUSD1	113904387	0.995000	0.38212	0.999000	0.59377	0.466000	0.32739	0.642000	0.24735	1.074000	0.40909	0.591000	0.81541	.	SUSD1	-	-	ENSG00000106868		0.358	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	92	0.00	0	C	NM_022486	Intron	114864566	114864566	-1	no_errors	ENST00000374264	ensembl	human	known	69_37n	splice_site	66	21.43	18	SNP	0.997	A
SUSD5	26032	genome.wustl.edu	37	3	33194682	33194682	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:33194682G>A	ENST00000309558.3	-	5	1859	c.1442C>T	c.(1441-1443)tCt>tTt	p.S481F		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	481					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCCATGGGAGATTCCTCTGT	0.532																																						dbGAP											0													117.0	121.0	119.0					3																	33194682		2006	4173	6179	-	-	-	SO:0001583	missense	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1442C>T	3.37:g.33194682G>A	ENSP00000308727:p.Ser481Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.S481F	ENST00000309558.3	37	c.1442	CCDS46787.1	3	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084911	0.36758	.	.	ENSG00000173705	ENST00000309558	T	0.08807	3.05	5.56	5.56	0.83823	.	0.553549	0.19270	N	0.118429	T	0.13543	0.0328	L	0.56769	1.78	0.26503	N	0.974748	P	0.46395	0.877	P	0.45037	0.467	T	0.08764	-1.0706	10	0.66056	D	0.02	-1.3655	12.0815	0.53673	0.0789:0.0:0.9211:0.0	.	481	O60279	SUSD5_HUMAN	F	481	ENSP00000308727:S481F	ENSP00000308727:S481F	S	-	2	0	SUSD5	33169686	0.015000	0.18098	0.488000	0.27440	0.126000	0.20510	1.948000	0.40303	2.618000	0.88619	0.650000	0.86243	TCT	SUSD5	-	NULL	ENSG00000173705		0.532	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	539	0.00	0	G	XM_171054		33194682	33194682	-1	no_errors	ENST00000309558	ensembl	human	known	69_37n	missense	405	12.66	59	SNP	0.586	A
SUV39H2	79723	genome.wustl.edu	37	10	14939434	14939434	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:14939434G>A	ENST00000354919.6	+	3	767	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000313519.5_Missense_Mutation_p.R196Q|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	256	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGCATCTTTCGAACTAGCAAT	0.428																																						dbGAP											0													110.0	99.0	103.0					10																	14939434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.767G>A	10.37:g.14939434G>A	ENSP00000346997:p.Arg256Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.R256Q	ENST00000354919.6	37	c.767	CCDS53494.1	10	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492225	0.64074	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	D;D;D	0.90324	-2.65;-2.65;-2.65	5.86	5.86	0.93980	SET domain (2);	0.000000	0.64402	D	0.000004	D	0.89451	0.6719	M	0.72479	2.2	0.80722	D	1	P	0.35328	0.495	B	0.25405	0.06	D	0.88422	0.3029	10	0.49607	T	0.09	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	256	Q9H5I1	SUV92_HUMAN	Q	256;196;196	ENSP00000346997:R256Q;ENSP00000319208:R196Q;ENSP00000392201:R196Q	ENSP00000319208:R196Q	R	+	2	0	SUV39H2	14979440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.220000	0.65267	2.937000	0.99478	0.650000	0.86243	CGA	SUV39H2	-	smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom	ENSG00000152455		0.428	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H2	HGNC	protein_coding	OTTHUMT00000046947.2	103	0.96	1	G	NM_024670		14939434	14939434	+1	no_errors	ENST00000354919	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	1.000	A
SUV420H1	51111	genome.wustl.edu	37	11	67925652	67925652	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:67925652G>A	ENST00000304363.4	-	11	2514	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	721					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGACGCCTACGAAGAGTCAAT	0.388																																						dbGAP											0													224.0	223.0	224.0					11																	67925652		2200	4294	6494	-	-	-	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2161C>T	11.37:g.67925652G>A	ENSP00000305899:p.Arg721Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.R721C	ENST00000304363.4	37	c.2161	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729583	0.69074	.	.	ENSG00000110066	ENST00000304363	T	0.64803	-0.12	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75056	-0.3452	10	0.72032	D	0.01	-17.8409	17.7246	0.88361	0.0:0.0:1.0:0.0	.	721	Q4FZB7	SV421_HUMAN	C	721	ENSP00000305899:R721C	ENSP00000305899:R721C	R	-	1	0	SUV420H1	67682228	1.000000	0.71417	0.305000	0.25099	0.981000	0.71138	9.075000	0.94004	2.419000	0.82065	0.313000	0.20887	CGT	SUV420H1	-	NULL	ENSG00000110066		0.388	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	237	0.42	1	G	NM_017635		67925652	67925652	-1	no_errors	ENST00000304363	ensembl	human	known	69_37n	missense	206	10.43	24	SNP	0.998	A
SV2C	22987	genome.wustl.edu	37	5	75596599	75596599	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:75596599C>T	ENST00000502798.2	+	11	2124	c.1682C>T	c.(1681-1683)tCg>tTg	p.S561L	SV2C_ENST00000322285.7_Missense_Mutation_p.S561L|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	561					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAAAACTGCTCGTTTTTTCAC	0.373																																						dbGAP											0													165.0	150.0	155.0					5																	75596599		1847	4091	5938	-	-	-	SO:0001583	missense	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1682C>T	5.37:g.75596599C>T	ENSP00000423541:p.Ser561Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.S561L	ENST00000502798.2	37	c.1682	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304662	0.60305	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.44482	0.92;0.92	5.68	3.7	0.42460	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.502042	0.20494	N	0.091224	T	0.30727	0.0774	L	0.29908	0.895	0.39414	D	0.966793	B	0.02656	0.0	B	0.04013	0.001	T	0.10543	-1.0625	10	0.37606	T	0.19	-2.8674	11.6735	0.51417	0.0:0.8468:0.0:0.1532	.	561	Q496J9	SV2C_HUMAN	L	561	ENSP00000423541:S561L;ENSP00000316983:S561L	ENSP00000316983:S561L	S	+	2	0	SV2C	75632355	0.887000	0.30362	0.713000	0.30519	0.927000	0.56198	2.720000	0.47252	1.216000	0.43427	0.591000	0.81541	TCG	SV2C	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	ENSG00000122012		0.373	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	236	0.00	0	C			75596599	75596599	+1	no_errors	ENST00000502798	ensembl	human	known	69_37n	missense	199	13.48	31	SNP	0.996	T
SVEP1	79987	genome.wustl.edu	37	9	113149723	113149723	+	Missense_Mutation	SNP	G	G	T	rs144712744		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:113149723G>T	ENST00000401783.2	-	42	10238	c.9902C>A	c.(9901-9903)aCt>aAt	p.T3301N	SVEP1_ENST00000374469.1_Missense_Mutation_p.T3278N|SVEP1_ENST00000297826.5_Missense_Mutation_p.T1227N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3301	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCAAGTGGAGTTTCACACCT	0.408																																						dbGAP											0													76.0	73.0	74.0					9																	113149723		1844	4096	5940	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9902C>A	9.37:g.113149723G>T	ENSP00000384917:p.Thr3301Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.T3301N	ENST00000401783.2	37	c.9902	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	6.153	0.396358	0.11638	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64803	-0.12;-0.12;-0.12	5.09	4.17	0.49024	Complement control module (2);Sushi/SCR/CCP (3);	0.808768	0.11739	N	0.534191	T	0.37679	0.1012	N	0.11892	0.195	0.80722	D	1	B	0.18013	0.025	B	0.22152	0.038	T	0.40739	-0.9547	10	0.15952	T	0.53	.	3.2392	0.06774	0.2177:0.0:0.5615:0.2209	.	3301	Q4LDE5	SVEP1_HUMAN	N	3301;3278;1227	ENSP00000384917:T3301N;ENSP00000363593:T3278N;ENSP00000297826:T1227N	ENSP00000297826:T1227N	T	-	2	0	SVEP1	112189544	0.997000	0.39634	0.984000	0.44739	0.556000	0.35491	1.349000	0.33998	2.529000	0.85273	0.650000	0.86243	ACT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.408	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		278	0.36	1	G			113149723	113149723	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	181	28.46	72	SNP	0.982	T
SVEP1	79987	genome.wustl.edu	37	9	113170167	113170167	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:113170167A>C	ENST00000401783.2	-	38	8049	c.7713T>G	c.(7711-7713)gaT>gaG	p.D2571E	SVEP1_ENST00000374469.1_Missense_Mutation_p.D2548E|SVEP1_ENST00000297826.5_Missense_Mutation_p.D497E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2571	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATAGCTGTAATCTGCACCTT	0.478																																						dbGAP											0													64.0	63.0	63.0					9																	113170167		1980	4183	6163	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7713T>G	9.37:g.113170167A>C	ENSP00000384917:p.Asp2571Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D2571E	ENST00000401783.2	37	c.7713	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363486	0.61513	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.24723	1.84;1.84;1.84	6.07	4.93	0.64822	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.52266	1.64	0.80722	D	1	D	0.57257	0.979	P	0.59056	0.851	T	0.22208	-1.0223	10	0.05620	T	0.96	.	12.0359	0.53425	0.933:0.0:0.067:0.0	.	2571	Q4LDE5	SVEP1_HUMAN	E	2571;2548;497;243	ENSP00000384917:D2571E;ENSP00000363593:D2548E;ENSP00000297826:D497E	ENSP00000297826:D497E	D	-	3	2	SVEP1	112209988	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	1.391000	0.34475	1.111000	0.41721	0.533000	0.62120	GAT	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		45	0.00	0	A			113170167	113170167	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	1.000	C
SVOPL	136306	genome.wustl.edu	37	7	138347862	138347862	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:138347862C>T	ENST00000419765.3	-	4	335	c.302G>A	c.(301-303)aGt>aAt	p.S101N	SVOPL_ENST00000288513.5_5'UTR|SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000436657.1_5'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	101						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAAGAGGATACTGAAAACCAT	0.463																																						dbGAP											0													88.0	80.0	83.0					7																	138347862		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.302G>A	7.37:g.138347862C>T	ENSP00000405482:p.Ser101Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S101N	ENST00000419765.3	37	c.302	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723372	0.89298	.	.	ENSG00000157703	ENST00000419765	T	0.58797	0.31	4.96	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.67050	0.2852	L	0.47190	1.495	0.80722	D	1	D	0.54601	0.967	P	0.58172	0.834	T	0.71009	-0.4716	9	0.87932	D	0	-9.7361	16.9682	0.86291	0.0:1.0:0.0:0.0	.	101	Q8N434	SVOPL_HUMAN	N	101	ENSP00000405482:S101N	ENSP00000405482:S101N	S	-	2	0	SVOPL	137998402	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	2.293000	0.77203	0.655000	0.94253	AGT	SVOPL	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.463	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	266	0.00	0	C	NM_174959		138347862	138347862	-1	no_errors	ENST00000419765	ensembl	human	known	69_37n	missense	128	12.33	18	SNP	1.000	T
SWT1	54823	genome.wustl.edu	37	1	185144058	185144058	+	Missense_Mutation	SNP	C	C	T	rs186283787		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:185144058C>T	ENST00000367500.4	+	5	944	c.779C>T	c.(778-780)tCg>tTg	p.S260L	SWT1_ENST00000367501.3_Missense_Mutation_p.S260L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	260								p.S260L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCTAATAATTCGAAGACTAAG	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											61.0	68.0	66.0					1																	185144058		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.779C>T	1.37:g.185144058C>T	ENSP00000356470:p.Ser260Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.S260L	ENST00000367500.4	37	c.779	CCDS1367.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.758	1.169275	0.21621	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.20332	2.08;2.08	5.67	-1.34	0.09143	.	1.148500	0.06503	N	0.736689	T	0.16811	0.0404	L	0.40543	1.245	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.31696	-0.9934	10	0.48119	T	0.1	.	6.5455	0.22404	0.0:0.4844:0.2178:0.2978	.	260	Q5T5J6	SWT1_HUMAN	L	260	ENSP00000356471:S260L;ENSP00000356470:S260L	ENSP00000356470:S260L	S	+	2	0	SWT1	183410681	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.058000	0.11750	-0.884000	0.03976	-1.847000	0.00572	TCG	SWT1	-	NULL	ENSG00000116668		0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	24	0.00	0	C	NM_017673		185144058	185144058	+1	no_errors	ENST00000367500	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	0.000	T
SWT1	54823	genome.wustl.edu	37	1	185200824	185200824	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:185200824C>A	ENST00000367500.4	+	16	2590	c.2425C>A	c.(2425-2427)Ctt>Att	p.L809I	SWT1_ENST00000367501.3_Missense_Mutation_p.L809I	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	809										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GAGGGATATTCTTGAAGGAAT	0.318																																						dbGAP											0													57.0	59.0	58.0					1																	185200824		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2425C>A	1.37:g.185200824C>A	ENSP00000356470:p.Leu809Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.L809I	ENST00000367500.4	37	c.2425	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396694	0.42512	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.55760	0.5;0.5	5.27	4.34	0.51931	.	0.000000	0.64402	D	0.000001	T	0.60483	0.2272	L	0.32530	0.975	0.39076	D	0.960809	D	0.76494	0.999	D	0.77004	0.989	T	0.63928	-0.6526	10	0.52906	T	0.07	.	12.4523	0.55684	0.1683:0.8317:0.0:0.0	.	809	Q5T5J6	SWT1_HUMAN	I	809	ENSP00000356471:L809I;ENSP00000356470:L809I	ENSP00000356470:L809I	L	+	1	0	SWT1	183467447	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	4.190000	0.58365	1.191000	0.43056	-0.518000	0.04402	CTT	SWT1	-	NULL	ENSG00000116668		0.318	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	139	0.00	0	C	NM_017673		185200824	185200824	+1	no_errors	ENST00000367500	ensembl	human	known	69_37n	missense	79	35.77	44	SNP	1.000	A
SYCP2L	221711	genome.wustl.edu	37	6	10910409	10910409	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:10910409A>G	ENST00000283141.6	+	11	1144	c.848A>G	c.(847-849)aAc>aGc	p.N283S	SYCP2L_ENST00000543878.1_Missense_Mutation_p.N124S|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	283						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATCACCTAAACAACAGACTT	0.308																																						dbGAP											0													91.0	84.0	87.0					6																	10910409		1822	4079	5901	-	-	-	SO:0001583	missense	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.848A>G	6.37:g.10910409A>G	ENSP00000283141:p.Asn283Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.N283S	ENST00000283141.6	37	c.848	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339715	0.60963	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.74947	-0.89;0.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84275	0.5436	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.87163	0.2216	10	0.87932	D	0	-2.9117	14.1503	0.65378	1.0:0.0:0.0:0.0	.	124;283	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	S	124;283	ENSP00000440676:N124S;ENSP00000283141:N283S	ENSP00000283141:N283S	N	+	2	0	SYCP2L	11018395	0.999000	0.42202	0.655000	0.29622	0.434000	0.31775	5.446000	0.66600	2.164000	0.68074	0.533000	0.62120	AAC	SYCP2L	-	NULL	ENSG00000153157		0.308	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	365	0.00	0	A	NM_194299		10910409	10910409	+1	no_errors	ENST00000283141	ensembl	human	known	69_37n	missense	268	11.51	35	SNP	0.957	G
SYCP2L	221711	genome.wustl.edu	37	6	10913129	10913129	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:10913129G>A	ENST00000283141.6	+	14	1337	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	SYCP2L_ENST00000543878.1_Silent_p.P188P|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	347						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGACACTTCCGAAGGAAGCGG	0.348																																						dbGAP											0													64.0	60.0	61.0					6																	10913129		1818	4083	5901	-	-	-	SO:0001819	synonymous_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1041G>A	6.37:g.10913129G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	NULL	p.P347	ENST00000283141.6	37	c.1041	CCDS43423.1	6																																																																																			SYCP2L	-	NULL	ENSG00000153157		0.348	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	187	0.53	1	G	NM_194299		10913129	10913129	+1	no_errors	ENST00000283141	ensembl	human	known	69_37n	silent	157	15.59	29	SNP	0.005	A
SYCP2L	221711	genome.wustl.edu	37	6	10927484	10927484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:10927484G>T	ENST00000283141.6	+	17	1620	c.1324G>T	c.(1324-1326)Gaa>Taa	p.E442*	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	442						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GCAGGCAGAAGAATCCACTAA	0.443																																						dbGAP											0													127.0	127.0	127.0					6																	10927484		2010	4190	6200	-	-	-	SO:0001587	stop_gained	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1324G>T	6.37:g.10927484G>T	ENSP00000283141:p.Glu442*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Nonsense_Mutation	SNP	NULL	p.E442*	ENST00000283141.6	37	c.1324	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.826115	0.97865	.	.	ENSG00000153157	ENST00000283141	.	.	.	3.78	3.78	0.43462	.	0.487637	0.20420	N	0.092693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-0.3999	11.4428	0.50107	0.0:0.0:1.0:0.0	.	.	.	.	X	442	.	ENSP00000283141:E442X	E	+	1	0	SYCP2L	11035470	0.948000	0.32251	0.965000	0.40720	0.226000	0.24999	1.966000	0.40481	2.421000	0.82119	0.561000	0.74099	GAA	SYCP2L	-	NULL	ENSG00000153157		0.443	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	252	0.00	0	G	NM_194299		10927484	10927484	+1	no_errors	ENST00000283141	ensembl	human	known	69_37n	nonsense	193	10.23	22	SNP	0.972	T
SYDE2	84144	genome.wustl.edu	37	1	85624729	85624729	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85624729C>T	ENST00000341460.5	-	7	3338	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1097					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AAGTAGTTTTCCCCACAGCTG	0.373																																						dbGAP											0													96.0	95.0	95.0					1																	85624729		1848	4096	5944	-	-	-	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3289G>A	1.37:g.85624729C>T	ENSP00000340594:p.Glu1097Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E1097K	ENST00000341460.5	37	c.3289	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053681	0.75960	.	.	ENSG00000097096	ENST00000341460	T	0.39229	1.09	6.17	6.17	0.99709	.	0.048311	0.85682	D	0.000000	T	0.38427	0.1040	M	0.72118	2.19	0.58432	D	0.999998	B	0.21606	0.058	B	0.22152	0.038	T	0.19647	-1.0299	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1097	Q5VT97	SYDE2_HUMAN	K	1097	ENSP00000340594:E1097K	ENSP00000340594:E1097K	E	-	1	0	SYDE2	85397317	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.748000	0.68697	2.941000	0.99782	0.655000	0.94253	GAA	SYDE2	-	NULL	ENSG00000097096		0.373	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	105	0.00	0	C			85624729	85624729	-1	no_errors	ENST00000341460	ensembl	human	known	69_37n	missense	70	21.11	19	SNP	1.000	T
SYK	6850	genome.wustl.edu	37	9	93606262	93606262	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:93606262T>G	ENST00000375754.4	+	2	230	c.82T>G	c.(82-84)Tac>Gac	p.Y28D	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.Y28D|SYK_ENST00000375751.4_Missense_Mutation_p.Y28D|SYK_ENST00000375746.1_Missense_Mutation_p.Y28D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	28	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGCAGAAGATTACCTGGTCCA	0.642			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	dbGAP		Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0													49.0	35.0	39.0					9																	93606262		2203	4300	6503	-	-	-	SO:0001583	missense	0			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.82T>G	9.37:g.93606262T>G	ENSP00000364907:p.Tyr28Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.Y28D	ENST00000375754.4	37	c.82	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359065	0.82353	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	5.16	5.16	0.70880	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.992	D	0.93556	0.6891	10	0.52906	T	0.07	.	15.1619	0.72791	0.0:0.0:0.0:1.0	.	28;28;28	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	D	28	ENSP00000364907:Y28D;ENSP00000364904:Y28D;ENSP00000364899:Y28D;ENSP00000364898:Y28D	ENSP00000364898:Y28D	Y	+	1	0	SYK	92646083	1.000000	0.71417	0.965000	0.40720	0.952000	0.60782	4.446000	0.60014	2.166000	0.68216	0.533000	0.62120	TAC	SYK	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2	ENSG00000165025		0.642	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	143	0.00	0	T			93606262	93606262	+1	no_errors	ENST00000375746	ensembl	human	known	69_37n	missense	95	20.17	24	SNP	1.000	G
SYN1	6853	genome.wustl.edu	37	X	47436004	47436004	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47436004G>A	ENST00000295987.7	-	7	997	c.873C>T	c.(871-873)atC>atT	p.I291I	SYN1_ENST00000340666.4_Silent_p.I291I	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	291	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CGACACTTGCGATGTCCTGGA	0.572																																						dbGAP											0													148.0	97.0	114.0					X																	47436004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.873C>T	X.37:g.47436004G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJQ1|O75825|Q5H9A9	Silent	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.I291	ENST00000295987.7	37	c.873	CCDS14280.1	X																																																																																			SYN1	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type	ENSG00000008056		0.572	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	289	0.00	0	G	NM_006950		47436004	47436004	-1	no_errors	ENST00000295987	ensembl	human	known	69_37n	silent	184	13.62	29	SNP	0.200	A
SYN2	6854	genome.wustl.edu	37	3	12182164	12182164	+	RNA	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:12182164C>T	ENST00000432424.2	+	0	563							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R62W(1)		breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAAGTGCTTTCGGGGCAAAAA	0.428																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											78.0	75.0	76.0					3																	12182164		1879	4116	5995	-	-	-			0				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12182164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY98	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.R63W	ENST00000432424.2	37	c.187		3	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480591	0.63849	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.35	4.35	0.52113	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.82193	2.58	0.24696	N	0.993289	D;D	0.89917	1.0;1.0	D;D	0.67900	0.954;0.923	T	0.62497	-0.6842	9	0.87932	D	0	-11.969	12.239	0.54532	0.1697:0.8302:0.0:0.0	.	131;131	Q92777;Q92777-2	SYN2_HUMAN;.	W	63	.	ENSP00000442512:R63W	R	+	1	2	SYN2	12157164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.150000	0.50662	2.263000	0.75096	0.655000	0.94253	CGG	SYN2	-	pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_fold,prints_Synapsin	ENSG00000157152		0.428	SYN2-002	KNOWN	basic	processed_transcript	SYN2	HGNC	processed_transcript	OTTHUMT00000339528.3	482	0.00	0	C	NM_133625		12182164	12182164	+1	no_errors	ENST00000540660	ensembl	human	known	69_37n	missense	434	12.83	64	SNP	1.000	T
SYNCRIP	10492	genome.wustl.edu	37	6	86350232	86350232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:86350232C>A	ENST00000369622.3	-	3	699	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	SYNCRIP_ENST00000355238.6_Nonsense_Mutation_p.E67*	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	67					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E67*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCATTGAATTCTTTTAAAGCT	0.294																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											70.0	70.0	70.0					6																	86350232		2203	4294	6497	-	-	-	SO:0001587	stop_gained	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.199G>T	6.37:g.86350232C>A	ENSP00000358635:p.Glu67*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E67*	ENST00000369622.3	37	c.199	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.373811	0.97515	.	.	ENSG00000135316	ENST00000355238;ENST00000369622;ENST00000444272	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4659	0.90755	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	ENSP00000347380:E67X	E	-	1	0	SYNCRIP	86406951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.329000	0.79093	0.655000	0.94253	GAA	SYNCRIP	-	NULL	ENSG00000135316		0.294	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	174	0.57	1	C	NM_006372		86350232	86350232	-1	no_errors	ENST00000369622	ensembl	human	known	69_37n	nonsense	127	11.81	17	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152523035	152523035	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152523035C>T	ENST00000367255.5	-	127	23670	c.23069G>A	c.(23068-23070)cGa>cAa	p.R7690Q	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2214Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7619Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7690Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7302Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7619Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7690					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R7690Q(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGAAAGTTCGTAGTTTCTC	0.393										HNSCC(10;0.0054)																												dbGAP											2	Substitution - Missense(2)	large_intestine(2)											90.0	96.0	94.0					6																	152523035		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23069G>A	6.37:g.152523035C>T	ENSP00000356224:p.Arg7690Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R7690Q	ENST00000367255.5	37	c.23069	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867828	0.51588	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.98	5.11	0.69529	.	0.000000	0.56097	D	0.000028	T	0.76140	0.3946	L	0.56124	1.755	0.46774	D	0.999195	D;D;D;D	0.76494	0.995;0.995;0.999;0.997	P;P;P;P	0.57152	0.656;0.656;0.814;0.656	T	0.79553	-0.1756	10	0.59425	D	0.04	.	11.9852	0.53142	0.0:0.8621:0.0:0.1379	.	7690;7690;7619;7619	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Q	7690;336;7619;7690;7619;7302;2214;612	ENSP00000356224:R7690Q;ENSP00000356226:R336Q;ENSP00000396024:R7619Q;ENSP00000265368:R7690Q;ENSP00000390975:R7619Q;ENSP00000341887:R7302Q;ENSP00000349276:R2214Q;ENSP00000356220:R612Q	ENSP00000265368:R7690Q	R	-	2	0	SYNE1	152564728	1.000000	0.71417	0.247000	0.24249	0.950000	0.60333	4.084000	0.57650	1.541000	0.49316	0.591000	0.81541	CGA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	258	0.00	0	C	NM_182961		152523035	152523035	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	166	24.55	54	SNP	0.994	T
SYNE1	23345	genome.wustl.edu	37	6	152565761	152565761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152565761C>A	ENST00000367255.5	-	106	20204	c.19603G>T	c.(19603-19605)Gaa>Taa	p.E6535*	SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E1059*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6464*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6535*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E6147*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6464*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6535					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATCAAATTCTTTGAGTCCA	0.438										HNSCC(10;0.0054)																												dbGAP											0													169.0	153.0	158.0					6																	152565761		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19603G>T	6.37:g.152565761C>A	ENSP00000356224:p.Glu6535*	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6535*	ENST00000367255.5	37	c.19603	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	43	10.408881	0.99400	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.76	5.76	0.90799	.	0.098369	0.44097	D	0.000483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.9699	0.97282	0.0:1.0:0.0:0.0	.	.	.	.	X	6535;6464;6535;6464;6147;1059	.	ENSP00000265368:E6535X	E	-	1	0	SYNE1	152607454	1.000000	0.71417	0.965000	0.40720	0.751000	0.42716	7.125000	0.77193	2.730000	0.93505	0.591000	0.81541	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	530	0.00	0	C	NM_182961		152565761	152565761	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	nonsense	403	11.82	54	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152671442	152671442	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152671442A>T	ENST00000367255.5	-	72	12363	c.11762T>A	c.(11761-11763)gTc>gAc	p.V3921D	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3921D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3845D|SYNE1_ENST00000448038.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3921					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTCTTTGACTTTCGCCTC	0.473										HNSCC(10;0.0054)																												dbGAP											0													109.0	99.0	102.0					6																	152671442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11762T>A	6.37:g.152671442A>T	ENSP00000356224:p.Val3921Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V3921D	ENST00000367255.5	37	c.11762	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006159	0.74932	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	T;T;T	0.36157	1.27;1.27;1.27	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000047	T	0.51075	0.1653	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.55515	-0.8129	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	3921;3921;3921	B7ZBC3;Q8NF91;E7EQI5	.;SYNE1_HUMAN;.	D	3921;3921;3845	ENSP00000356224:V3921D;ENSP00000265368:V3921D;ENSP00000341887:V3845D	ENSP00000265368:V3921D	V	-	2	0	SYNE1	152713135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.935000	0.92923	2.281000	0.76405	0.533000	0.62120	GTC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	161	0.00	0	A	NM_182961		152671442	152671442	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	84	27.35	32	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152673229	152673229	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152673229A>G	ENST00000367255.5	-	70	12114	c.11513T>C	c.(11512-11514)aTt>aCt	p.I3838T	SYNE1_ENST00000423061.1_Missense_Mutation_p.I3823T|SYNE1_ENST00000265368.4_Missense_Mutation_p.I3838T|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.I3823T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3838					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACATGTAGAATTTCCTGGTA	0.378										HNSCC(10;0.0054)																												dbGAP											0													159.0	152.0	154.0					6																	152673229		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11513T>C	6.37:g.152673229A>G	ENSP00000356224:p.Ile3838Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I3838T	ENST00000367255.5	37	c.11513	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	7.009	0.556398	0.13436	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.04	4.88	0.63580	.	0.499454	0.19190	N	0.120459	T	0.19248	0.0462	L	0.43152	1.355	0.22811	N	0.9987	B;B;B;B	0.28470	0.213;0.213;0.213;0.178	B;B;B;B	0.30029	0.11;0.11;0.11;0.107	T	0.16188	-1.0411	10	0.13470	T	0.59	.	12.0439	0.53469	0.933:0.0:0.067:0.0	.	3838;3838;3838;3823	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	3838;3823;3838;3823	ENSP00000356224:I3838T;ENSP00000396024:I3823T;ENSP00000265368:I3838T;ENSP00000390975:I3823T	ENSP00000265368:I3838T	I	-	2	0	SYNE1	152714922	0.719000	0.27986	0.046000	0.18839	0.607000	0.37147	5.706000	0.68362	1.106000	0.41623	0.460000	0.39030	ATT	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	196	0.00	0	A	NM_182961		152673229	152673229	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	97	27.61	37	SNP	0.012	G
SYNE1	23345	genome.wustl.edu	37	6	152679668	152679668	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152679668G>A	ENST00000367255.5	-	66	11049	c.10448C>T	c.(10447-10449)gCc>gTc	p.A3483V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A3490V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3483V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3454V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3490V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3483					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGGTTACGGCTTCCTATAA	0.358										HNSCC(10;0.0054)																												dbGAP											0													87.0	82.0	84.0					6																	152679668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10448C>T	6.37:g.152679668G>A	ENSP00000356224:p.Ala3483Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A3483V	ENST00000367255.5	37	c.10448	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557851	0.65425	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55234	0.62;1.38;0.53;1.38;0.53	5.35	3.56	0.40772	.	0.103343	0.42548	D	0.000686	T	0.55257	0.1909	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73708	0.922;0.922;0.922;0.981	T	0.54938	-0.8218	10	0.33940	T	0.23	.	10.3262	0.43793	0.0703:0.0:0.7945:0.1351	.	3483;3483;3483;3490	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3483;3490;3483;3490;3454	ENSP00000356224:A3483V;ENSP00000396024:A3490V;ENSP00000265368:A3483V;ENSP00000390975:A3490V;ENSP00000341887:A3454V	ENSP00000265368:A3483V	A	-	2	0	SYNE1	152721361	1.000000	0.71417	0.616000	0.29078	0.852000	0.48524	5.975000	0.70475	0.644000	0.30656	0.561000	0.74099	GCC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.358	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	120	0.00	0	G	NM_182961		152679668	152679668	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	116	12.12	16	SNP	0.998	A
SYNE1	23345	genome.wustl.edu	37	6	152686151	152686151	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152686151G>T	ENST00000367255.5	-	63	10577	c.9976C>A	c.(9976-9978)Cta>Ata	p.L3326I	SYNE1_ENST00000423061.1_Missense_Mutation_p.L3333I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3326I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3365I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L3333I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3326					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTGATAATAGAGCCTGTGAA	0.373										HNSCC(10;0.0054)																												dbGAP											0													98.0	91.0	94.0					6																	152686151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9976C>A	6.37:g.152686151G>T	ENSP00000356224:p.Leu3326Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L3326I	ENST00000367255.5	37	c.9976	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329703	0.60743	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.61859	0.97;0.11;0.97;0.07;0.33	5.38	3.23	0.37069	.	0.000000	0.46442	D	0.000295	T	0.65554	0.2702	M	0.77103	2.36	0.48696	D	0.999691	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.997;0.999	T	0.67280	-0.5710	10	0.42905	T	0.14	.	10.7123	0.45990	0.2319:0.0:0.7681:0.0	.	3326;3326;3326;3333	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	3326;3333;3326;3333;3365	ENSP00000356224:L3326I;ENSP00000396024:L3333I;ENSP00000265368:L3326I;ENSP00000390975:L3333I;ENSP00000341887:L3365I	ENSP00000265368:L3326I	L	-	1	2	SYNE1	152727844	0.364000	0.24997	0.261000	0.24466	0.858000	0.48976	0.847000	0.27696	1.240000	0.43803	0.650000	0.86243	CTA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	267	0.00	0	G	NM_182961		152686151	152686151	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	283	16.27	55	SNP	0.102	T
SYNE1	23345	genome.wustl.edu	37	6	152708290	152708290	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152708290C>T	ENST00000367255.5	-	54	9005	c.8404G>A	c.(8404-8406)Gaa>Aaa	p.E2802K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2809K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2802K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2841K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2809K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2802					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTCTTTTCGTAGAGCTCC	0.468										HNSCC(10;0.0054)																												dbGAP											0													155.0	140.0	145.0					6																	152708290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8404G>A	6.37:g.152708290C>T	ENSP00000356224:p.Glu2802Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2802K	ENST00000367255.5	37	c.8404	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696541	0.30142	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.7	1.85	0.25348	.	0.426223	0.21881	N	0.067721	T	0.10078	0.0247	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.22276	0.004;0.003;0.003;0.067	B;B;B;B	0.18263	0.002;0.002;0.002;0.021	T	0.19516	-1.0303	10	0.07990	T	0.79	.	12.5368	0.56145	0.0:0.3285:0.5988:0.0728	.	2785;2802;2802;2809	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2802;2809;2802;2809;2841	ENSP00000356224:E2802K;ENSP00000396024:E2809K;ENSP00000265368:E2802K;ENSP00000390975:E2809K;ENSP00000341887:E2841K	ENSP00000265368:E2802K	E	-	1	0	SYNE1	152749983	0.899000	0.30636	0.677000	0.29947	0.597000	0.36814	1.686000	0.37669	0.049000	0.15920	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	306	0.00	0	C	NM_182961		152708290	152708290	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	239	22.40	69	SNP	0.816	T
SYNE1	23345	genome.wustl.edu	37	6	152751335	152751335	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152751335G>T	ENST00000367255.5	-	36	5301	c.4700C>A	c.(4699-4701)tCt>tAt	p.S1567Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S1574Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1567Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1637Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1574Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1567Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1567					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGACACAGATTGCTGGAT	0.323										HNSCC(10;0.0054)																												dbGAP											0													49.0	46.0	47.0					6																	152751335		2200	4291	6491	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4700C>A	6.37:g.152751335G>T	ENSP00000356224:p.Ser1567Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1567Y	ENST00000367255.5	37	c.4700	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705754	0.48412	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.97	5.05	0.67936	.	0.330316	0.26463	N	0.024239	T	0.43722	0.1260	L	0.50333	1.59	0.27617	N	0.948488	D;D;D;D;D	0.61080	0.976;0.981;0.986;0.981;0.989	P;P;P;P;P	0.57152	0.656;0.656;0.814;0.656;0.814	T	0.26710	-1.0095	10	0.44086	T	0.13	.	12.4081	0.55451	0.0:0.1272:0.7411:0.1317	.	1550;1567;1567;1567;1574	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	Y	1567;1574;1567;1574;1637;1567	ENSP00000356224:S1567Y;ENSP00000396024:S1574Y;ENSP00000265368:S1567Y;ENSP00000390975:S1574Y;ENSP00000341887:S1637Y;ENSP00000356222:S1567Y	ENSP00000265368:S1567Y	S	-	2	0	SYNE1	152793028	0.740000	0.28207	1.000000	0.80357	0.983000	0.72400	2.526000	0.45607	2.834000	0.97654	0.650000	0.86243	TCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.323	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	84	0.00	0	G	NM_182961		152751335	152751335	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	48	23.81	15	SNP	0.996	T
SYNE1	23345	genome.wustl.edu	37	6	152763330	152763330	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152763330G>A	ENST00000367255.5	-	31	4489	c.3888C>T	c.(3886-3888)atC>atT	p.I1296I	SYNE1_ENST00000413186.2_Silent_p.I1296I|SYNE1_ENST00000367248.3_Silent_p.I1286I|SYNE1_ENST00000423061.1_Silent_p.I1303I|SYNE1_ENST00000265368.4_Silent_p.I1296I|SYNE1_ENST00000341594.5_Silent_p.I1362I|SYNE1_ENST00000448038.1_Silent_p.I1303I|SYNE1_ENST00000367253.4_Silent_p.I1296I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I1296I(4)|p.I1303I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCGCCTGCGCGATCTGCTGCT	0.557										HNSCC(10;0.0054)																												dbGAP											6	Substitution - coding silent(6)	lung(6)											80.0	71.0	74.0					6																	152763330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3888C>T	6.37:g.152763330G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I1296	ENST00000367255.5	37	c.3888	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	124	0.00	0	G	NM_182961		152763330	152763330	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	68	20.93	18	SNP	0.000	A
SYNE1	23345	genome.wustl.edu	37	6	152786476	152786476	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:152786476G>A	ENST00000367255.5	-	18	2450	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C	SYNE1_ENST00000466159.2_Missense_Mutation_p.R617C|SYNE1_ENST00000413186.2_Missense_Mutation_p.R617C|SYNE1_ENST00000367248.3_Missense_Mutation_p.R607C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R624C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R617C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R624C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R624C|SYNE1_ENST00000495090.2_Missense_Mutation_p.R184C|SYNE1_ENST00000367253.4_Missense_Mutation_p.R617C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	617					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCCATAGCGATCCCAGTTA	0.448										HNSCC(10;0.0054)																												dbGAP											0													176.0	156.0	163.0					6																	152786476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1849C>T	6.37:g.152786476G>A	ENSP00000356224:p.Arg617Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R617C	ENST00000367255.5	37	c.1849	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023656	0.75390	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23;1.23	5.79	4.84	0.62591	.	0.000000	0.56097	D	0.000022	T	0.43389	0.1245	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;P;D	0.74674	0.977;0.891;0.949;0.939;0.984;0.891;0.97	T	0.28038	-1.0056	10	0.59425	D	0.04	.	13.5618	0.61793	0.0:0.0:0.7364:0.2636	.	600;617;617;184;607;617;624	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	C	617;624;617;624;624;617;607;617;184;617;600	ENSP00000356224:R617C;ENSP00000396024:R624C;ENSP00000265368:R617C;ENSP00000390975:R624C;ENSP00000341887:R624C;ENSP00000356222:R617C;ENSP00000356217:R607C;ENSP00000414510:R617C;ENSP00000438508:R184C;ENSP00000446021:R617C;ENSP00000441264:R600C	ENSP00000265368:R617C	R	-	1	0	SYNE1	152828169	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	3.967000	0.56802	2.746000	0.94184	0.655000	0.94253	CGC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	205	0.00	0	G	NM_182961		152786476	152786476	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	162	13.23	25	SNP	0.999	A
SYNE2	23224	genome.wustl.edu	37	14	64450501	64450501	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64450501T>C	ENST00000344113.4	+	18	2260	c.2048T>C	c.(2047-2049)tTt>tCt	p.F683S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.F683S|SYNE2_ENST00000554584.1_Missense_Mutation_p.F683S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	683					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGCCCACTTTTGACAATTCT	0.279																																						dbGAP											0													40.0	39.0	39.0					14																	64450501		1797	4065	5862	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2048T>C	14.37:g.64450501T>C	ENSP00000341781:p.Phe683Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.F683S	ENST00000344113.4	37	c.2048	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	8.102	0.776914	0.16120	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56444	0.82;0.82;0.46	5.5	0.215	0.15253	.	1.279400	0.05412	N	0.542691	T	0.35128	0.0921	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.15235	-1.0444	10	0.20046	T	0.44	.	5.4306	0.16450	0.0:0.2971:0.1403:0.5626	.	683;683	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	S	683	ENSP00000350719:F683S;ENSP00000341781:F683S;ENSP00000452570:F683S	ENSP00000261678:F683S	F	+	2	0	SYNE2	63520254	0.001000	0.12720	0.000000	0.03702	0.828000	0.46876	-0.267000	0.08619	-0.117000	0.11872	0.528000	0.53228	TTT	SYNE2	-	NULL	ENSG00000054654		0.279	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	92	0.00	0	T	NM_182914		64450501	64450501	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	84	11.58	11	SNP	0.007	C
SYNE2	23224	genome.wustl.edu	37	14	64465648	64465648	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64465648G>T	ENST00000344113.4	+	27	3582	c.3370G>T	c.(3370-3372)Gat>Tat	p.D1124Y	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.D1124Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.D1124Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1124					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TACATACAGAGATATTCTTGA	0.393																																						dbGAP											0													130.0	119.0	123.0					14																	64465648		1863	4132	5995	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3370G>T	14.37:g.64465648G>T	ENSP00000341781:p.Asp1124Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1124Y	ENST00000344113.4	37	c.3370	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	4.747	0.138839	0.09083	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57107	0.79;0.79;0.42	5.32	3.43	0.39272	.	1.039030	0.07616	N	0.926276	T	0.31638	0.0803	N	0.14661	0.345	0.09310	N	0.999994	P;P	0.39624	0.553;0.681	B;B	0.32624	0.071;0.149	T	0.20571	-1.0271	10	0.66056	D	0.02	.	4.634	0.12516	0.0784:0.2868:0.4864:0.1483	.	1124;1124	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Y	1124	ENSP00000350719:D1124Y;ENSP00000341781:D1124Y;ENSP00000452570:D1124Y	ENSP00000261678:D1124Y	D	+	1	0	SYNE2	63535401	0.706000	0.27856	0.002000	0.10522	0.190000	0.23558	1.171000	0.31896	0.702000	0.31825	-0.176000	0.13171	GAT	SYNE2	-	NULL	ENSG00000054654		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	187	0.00	0	G	NM_182914		64465648	64465648	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	100	52.15	109	SNP	0.004	T
SYNE2	23224	genome.wustl.edu	37	14	64491915	64491915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64491915G>T	ENST00000344113.4	+	41	6240	c.6028G>T	c.(6028-6030)Gaa>Taa	p.E2010*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2010*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2010*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2010					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAGAAGAAGAAATAATAAT	0.363																																						dbGAP											0													99.0	92.0	94.0					14																	64491915		1850	4095	5945	-	-	-	SO:0001587	stop_gained	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6028G>T	14.37:g.64491915G>T	ENSP00000341781:p.Glu2010*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2010*	ENST00000344113.4	37	c.6028	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	45	11.362706	0.99551	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.9	5.9	0.94986	.	0.186954	0.37348	N	0.002122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.4556	0.90720	0.0:0.0:1.0:0.0	.	.	.	.	X	2010	.	ENSP00000261678:E2010X	E	+	1	0	SYNE2	63561668	1.000000	0.71417	0.992000	0.48379	0.206000	0.24218	2.596000	0.46205	2.800000	0.96347	0.455000	0.32223	GAA	SYNE2	-	NULL	ENSG00000054654		0.363	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	111	0.89	1	G	NM_182914		64491915	64491915	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	nonsense	84	13.40	13	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64516497	64516497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64516497G>T	ENST00000344113.4	+	47	7758	c.7546G>T	c.(7546-7548)Gaa>Taa	p.E2516*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E2516*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E2549*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2516					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAAACAAAGAAAGCCAATA	0.388																																						dbGAP											0													80.0	76.0	78.0					14																	64516497		1834	4083	5917	-	-	-	SO:0001587	stop_gained	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7546G>T	14.37:g.64516497G>T	ENSP00000341781:p.Glu2516*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E2516*	ENST00000344113.4	37	c.7546	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	46	12.890859	0.99704	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.68	3.76	0.43208	.	0.200815	0.35040	N	0.003495	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	9.624	0.39739	0.0798:0.2208:0.6994:0.0	.	.	.	.	X	2516;2516;2549;2549	.	ENSP00000261678:E2549X	E	+	1	0	SYNE2	63586250	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	2.029000	0.41098	1.426000	0.47256	-0.225000	0.12378	GAA	SYNE2	-	NULL	ENSG00000054654		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	202	0.00	0	G	NM_182914		64516497	64516497	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	nonsense	168	15.15	30	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64591863	64591863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64591863G>T	ENST00000344113.4	+	71	13701	c.13489G>T	c.(13489-13491)Gaa>Taa	p.E4497*	SYNE2_ENST00000394768.2_Nonsense_Mutation_p.E882*|SYNE2_ENST00000357395.3_Nonsense_Mutation_p.E882*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E4497*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.E1131*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E4448*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4497					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAACTGAAGAACTGAAAAC	0.408																																						dbGAP											0													125.0	110.0	115.0					14																	64591863		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13489G>T	14.37:g.64591863G>T	ENSP00000341781:p.Glu4497*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4497*	ENST00000344113.4	37	c.13489	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	55	24.090473	0.99958	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	.	.	.	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.1378	0.98040	0.0:0.0:1.0:0.0	.	.	.	.	X	4497;882;4497;4448;4448;1131;882	.	ENSP00000261678:E4448X	E	+	1	0	SYNE2	63661616	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.392000	0.73213	2.764000	0.94973	0.643000	0.83706	GAA	SYNE2	-	NULL	ENSG00000054654		0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	221	0.00	0	G	NM_182914		64591863	64591863	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	nonsense	204	13.19	31	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64608671	64608671	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:64608671G>T	ENST00000344113.4	+	82	15383	c.15171G>T	c.(15169-15171)gaG>gaT	p.E5057D	SYNE2_ENST00000394768.2_Missense_Mutation_p.E1442D|SYNE2_ENST00000357395.3_Missense_Mutation_p.E1442D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5057D|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1691D|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4974D	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5057					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAAATGGAGAAATTGCCGT	0.368																																						dbGAP											0													58.0	54.0	56.0					14																	64608671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15171G>T	14.37:g.64608671G>T	ENSP00000341781:p.Glu5057Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5057D	ENST00000344113.4	37	c.15171	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095252	0.56075	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.58210	0.63;3.92;0.62;0.35;3.97;3.92	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000053	T	0.54464	0.1860	L	0.33339	1.005	0.80722	D	1	P;D;B;D	0.69078	0.712;0.995;0.402;0.997	B;P;P;P	0.62014	0.279;0.896;0.458;0.897	T	0.51772	-0.8663	10	0.33940	T	0.23	.	7.7994	0.29166	0.1893:0.0:0.8107:0.0	.	1442;4974;5057;5057	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	D	5057;1442;5057;4974;4980;1691;1442	ENSP00000350719:E5057D;ENSP00000349969:E1442D;ENSP00000341781:E5057D;ENSP00000452570:E4974D;ENSP00000450831:E1691D;ENSP00000378249:E1442D	ENSP00000261678:E4980D	E	+	3	2	SYNE2	63678424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.281000	0.65609	2.810000	0.96702	0.655000	0.94253	GAG	SYNE2	-	NULL	ENSG00000054654		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	193	0.00	0	G	NM_182914		64608671	64608671	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	119	29.17	49	SNP	1.000	T
SYNJ2	8871	genome.wustl.edu	37	6	158490642	158490642	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:158490642C>T	ENST00000355585.4	+	14	1952	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S626L|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S626L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	626					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGTTGACTTCGGCACAGCTG	0.453																																						dbGAP											0													168.0	147.0	154.0					6																	158490642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1877C>T	6.37:g.158490642C>T	ENSP00000347792:p.Ser626Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S626L	ENST00000355585.4	37	c.1877	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.545992	0.96488	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.95690	-3.78;-3.78;-3.78	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.255357	0.28442	N	0.015332	D	0.97250	0.9101	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.95256	0.8364	10	0.62326	D	0.03	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	626;626	O15056;O15056-3	SYNJ2_HUMAN;.	L	626	ENSP00000356089:S626L;ENSP00000356088:S626L;ENSP00000347792:S626L	ENSP00000347792:S626L	S	+	2	0	SYNJ2	158410630	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.611000	0.82962	-0.034000	0.13713	0.650000	0.86243	TCG	SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000078269		0.453	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	145	0.00	0	C			158490642	158490642	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	missense	88	30.16	38	SNP	0.994	T
SYNPO2	171024	genome.wustl.edu	37	4	119951918	119951918	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:119951918C>T	ENST00000429713.2	+	4	2170	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	SYNPO2_ENST00000434046.2_Missense_Mutation_p.S663L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Missense_Mutation_p.S663L	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	663						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTTTACGATTCGTCTGAGCGA	0.567																																						dbGAP											0													60.0	64.0	63.0					4																	119951918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1988C>T	4.37:g.119951918C>T	ENSP00000395143:p.Ser663Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S663L	ENST00000429713.2	37	c.1988	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	C	9.733	1.162924	0.21538	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09630	2.96;2.98;2.97	5.18	2.33	0.28932	.	1.078120	0.07247	N	0.865259	T	0.11367	0.0277	L	0.54323	1.7	0.26128	N	0.98046	B;P;P;B	0.35774	0.127;0.519;0.474;0.217	B;B;B;B	0.27887	0.038;0.084;0.035;0.026	T	0.29579	-1.0007	9	.	.	.	0.0735	10.3958	0.44201	0.1422:0.5842:0.2736:0.0	.	663;663;663;663	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	L	663	ENSP00000306015:S663L;ENSP00000395143:S663L;ENSP00000390965:S663L	.	S	+	2	0	SYNPO2	120171366	0.002000	0.14202	0.000000	0.03702	0.445000	0.32107	1.654000	0.37334	0.543000	0.28864	0.655000	0.94253	TCG	SYNPO2	-	NULL	ENSG00000172403		0.567	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	224	0.00	0	C			119951918	119951918	+1	no_errors	ENST00000307142	ensembl	human	known	69_37n	missense	191	15.86	36	SNP	0.005	T
SYP	6855	genome.wustl.edu	37	X	49055488	49055488	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:49055488A>G	ENST00000263233.4	-	2	113	c.41T>C	c.(40-42)gTg>gCg	p.V14A	SYP_ENST00000479808.1_Missense_Mutation_p.V14A|SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	14					cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACCCCCAGCCACCAGCTGAGG	0.627																																						dbGAP											0													52.0	44.0	47.0					X																	49055488		2202	4299	6501	-	-	-	SO:0001583	missense	0			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.41T>C	X.37:g.49055488A>G	ENSP00000263233:p.Val14Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.V14A	ENST00000263233.4	37	c.41	CCDS14321.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.03|19.03	3.748050|3.748050	0.69533|0.69533	.|.	.|.	ENSG00000102003|ENSG00000102003	ENST00000263233;ENST00000479808|ENST00000472598	T;T|.	0.20463|.	2.07;2.07|.	4.33|4.33	3.09|3.09	0.35607|0.35607	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.56863|0.56863	0.2014|0.2014	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.72625|.	0.978|.	T|T	0.53180|0.53180	-0.8475|-0.8475	10|5	0.31617|.	T|.	0.26|.	-10.482|-10.482	8.4782|8.4782	0.33027|0.33027	0.8072:0.1928:0.0:0.0|0.8072:0.1928:0.0:0.0	.|.	14|.	P08247|.	SYPH_HUMAN|.	A|R	14|11	ENSP00000263233:V14A;ENSP00000418169:V14A|.	ENSP00000263233:V14A|.	V|W	-|-	2|1	0|0	SYP|SYP	48942432|48942432	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.649000|5.649000	0.67936|0.67936	1.402000|1.402000	0.46780|0.46780	0.400000|0.400000	0.26472|0.26472	GTG|TGG	SYP	-	NULL	ENSG00000102003		0.627	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	HGNC	protein_coding	OTTHUMT00000083625.2	199	0.00	0	A	NM_003179		49055488	49055488	-1	no_errors	ENST00000263233	ensembl	human	known	69_37n	missense	170	10.42	20	SNP	1.000	G
SYPL2	284612	genome.wustl.edu	37	1	110018288	110018288	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:110018288A>G	ENST00000369872.3	+	3	431	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SYPL2_ENST00000401021.3_Missense_Mutation_p.D72G|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	72	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GAAGCCAAGGACGTGAGCTCC	0.527																																						dbGAP											0													121.0	126.0	124.0					1																	110018288		2115	4216	6331	-	-	-	SO:0001583	missense	0			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.215A>G	1.37:g.110018288A>G	ENSP00000358888:p.Asp72Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.D72G	ENST00000369872.3	37	c.215	CCDS41365.1	1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351473	0.82132	.	.	ENSG00000143028	ENST00000401021;ENST00000369872	T	0.32272	1.46	5.87	5.87	0.94306	Marvel (1);MARVEL-like domain (1);	0.050772	0.85682	D	0.000000	T	0.21761	0.0524	L	0.38175	1.15	0.37872	D	0.930106	P;P;P	0.43578	0.811;0.811;0.774	P;B;B	0.46796	0.527;0.315;0.392	T	0.02121	-1.1210	10	0.40728	T	0.16	.	15.2526	0.73559	1.0:0.0:0.0:0.0	.	72;72;72	B4DYR7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	G	72	ENSP00000358888:D72G	ENSP00000358888:D72G	D	+	2	0	SYPL2	109819811	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	3.045000	0.49838	2.248000	0.74166	0.533000	0.62120	GAC	SYPL2	-	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	ENSG00000143028		0.527	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYPL2	HGNC	protein_coding	OTTHUMT00000030191.1	362	0.00	0	A	NM_001006603		110018288	110018288	+1	no_errors	ENST00000369872	ensembl	human	known	69_37n	missense	175	14.56	30	SNP	0.966	G
SYT10	341359	genome.wustl.edu	37	12	33559900	33559900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:33559900G>A	ENST00000228567.3	-	3	1197	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_Nonsense_Mutation_p.Q120*|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	301	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACAGGAAATTGAAAAGTTTCA	0.358																																						dbGAP											0													103.0	103.0	103.0					12																	33559900		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.901C>T	12.37:g.33559900G>A	ENSP00000228567:p.Gln301*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495U2	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.Q301*	ENST00000228567.3	37	c.901	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.717013	0.97784	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	.	.	.	4.79	4.79	0.61399	.	0.000000	0.39341	U	0.001398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	17.7196	0.88347	0.0:0.0:1.0:0.0	.	.	.	.	X	301;120	.	ENSP00000228567:Q301X	Q	-	1	0	SYT10	33451167	1.000000	0.71417	0.952000	0.39060	0.932000	0.56968	5.953000	0.70290	2.577000	0.86979	0.563000	0.77884	CAA	SYT10	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	ENSG00000110975		0.358	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	423	0.00	0	G	NM_198992		33559900	33559900	-1	no_errors	ENST00000228567	ensembl	human	known	69_37n	nonsense	225	10.71	27	SNP	1.000	A
SYT2	127833	genome.wustl.edu	37	1	202574726	202574726	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:202574726G>T	ENST00000367267.1	-	2	367	c.175C>A	c.(175-177)Ccc>Acc	p.P59T	SYT2_ENST00000367268.4_Missense_Mutation_p.P59T|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	59					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CACTCACAGGGAATCTTGTTT	0.547																																						dbGAP											0													68.0	61.0	63.0					1																	202574726		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.175C>A	1.37:g.202574726G>T	ENSP00000356236:p.Pro59Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496K5|Q8NBE5	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting	p.P59T	ENST00000367267.1	37	c.175	CCDS1427.1	1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565619	0.65651	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.46819	0.86;0.86	5.43	5.43	0.79202	.	0.057046	0.64402	D	0.000001	T	0.71151	0.3306	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73814	-0.3864	10	0.62326	D	0.03	.	19.2203	0.93793	0.0:0.0:1.0:0.0	.	59	Q8N9I0	SYT2_HUMAN	T	59	ENSP00000356237:P59T;ENSP00000356236:P59T	ENSP00000356236:P59T	P	-	1	0	SYT2	200841349	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	9.084000	0.94076	2.563000	0.86464	0.471000	0.43371	CCC	SYT2	-	NULL	ENSG00000143858		0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1	184	0.00	0	G	NM_177402		202574726	202574726	-1	no_errors	ENST00000367267	ensembl	human	known	69_37n	missense	121	35.45	67	SNP	1.000	T
SYTL2	54843	genome.wustl.edu	37	11	85435163	85435163	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:85435163C>A	ENST00000528231.1	-	8	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E779D|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E779D|SYTL2_ENST00000359152.5_Missense_Mutation_p.E1303D|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTTCCTCTTTCTCTTGTTTCA	0.383																																						dbGAP											0													92.0	95.0	94.0					11																	85435163		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3161G>T	11.37:g.85435163C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1303D	ENST00000528231.1	37	c.3909	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975022	0.18736	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.38722	1.56;1.54;1.54;1.12	5.83	1.06	0.20224	.	0.874073	0.10222	N	0.700828	T	0.26159	0.0638	L	0.34521	1.04	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.09377	0.004;0.004;0.004	T	0.22521	-1.0214	9	.	.	.	0.0115	3.0634	0.06206	0.2218:0.2689:0.407:0.1022	.	779;779;779	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	D	1303;779;779;198	ENSP00000352065:E1303D;ENSP00000346576:E779D;ENSP00000432694:E779D;ENSP00000435009:E198D	.	E	-	3	2	SYTL2	85112811	0.001000	0.12720	0.584000	0.28653	0.537000	0.34900	-0.501000	0.06398	0.308000	0.22923	0.650000	0.86243	GAG	SYTL2	-	NULL	ENSG00000137501		0.383	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	188	0.00	0	C	NM_206927		85435163	85435163	-1	no_errors	ENST00000359152	ensembl	human	known	69_37n	missense	133	14.19	22	SNP	0.093	A
SYTL5	94122	genome.wustl.edu	37	X	37981418	37981418	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:37981418G>T	ENST00000357972.5	+	15	2337	c.1791G>T	c.(1789-1791)aaG>aaT	p.K597N	SYTL5_ENST00000456733.2_Missense_Mutation_p.K619N|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.K597N			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	597	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AAGAGGCAAAGAATTTGACAG	0.398																																						dbGAP											0													120.0	103.0	108.0					X																	37981418		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1791G>T	X.37:g.37981418G>T	ENSP00000350657:p.Lys597Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.K619N	ENST00000357972.5	37	c.1857	CCDS14244.1	X	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669814	0.67814	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.71934	-0.61;-0.61;-0.61	5.44	3.33	0.38152	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.090275	0.85682	D	0.000000	T	0.80660	0.4665	M	0.73217	2.22	0.48975	D	0.999731	D;P	0.89917	1.0;0.954	D;P	0.97110	1.0;0.833	T	0.80350	-0.1419	10	0.54805	T	0.06	-7.751	9.8285	0.40928	0.2563:0.0:0.7437:0.0	.	619;597	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	N	597;597;619	ENSP00000297875:K597N;ENSP00000350657:K597N;ENSP00000395220:K619N	ENSP00000297875:K597N	K	+	3	2	SYTL5	37866362	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.620000	0.36976	1.062000	0.40625	0.600000	0.82982	AAG	SYTL5	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000147041		0.398	SYTL5-201	KNOWN	basic|CCDS	protein_coding	SYTL5	HGNC	protein_coding	OTTHUMT00000080883.1	376	0.00	0	G	NM_138780		37981418	37981418	+1	no_errors	ENST00000456733	ensembl	human	known	69_37n	missense	243	11.31	31	SNP	1.000	T
SYTL4	94121	genome.wustl.edu	37	X	99942064	99942064	+	Splice_Site	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:99942064G>A	ENST00000372989.1	-	13	1515	c.1184C>T	c.(1183-1185)cCa>cTa	p.P395L	SYTL4_ENST00000263033.5_Splice_Site_p.P395L|SYTL4_ENST00000276141.6_Splice_Site_p.P395L|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Splice_Site_p.P397L|SYTL4_ENST00000455616.1_Splice_Site_p.P395L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	395	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGCACTCACGGGTTAGAGCG	0.537																																						dbGAP											0													69.0	54.0	59.0					X																	99942064		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1184+1C>T	X.37:g.99942064G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.P397L	ENST00000372989.1	37	c.1190	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.231112	0.95207	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.88	5.88	0.94601	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93093	0.7801	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95371	0.8464	9	.	.	.	-5.7597	19.1599	0.93526	0.0:0.0:1.0:0.0	.	395	Q96C24	SYTL4_HUMAN	L	395;395;397;395;395	ENSP00000362080:P395L;ENSP00000390252:P395L;ENSP00000403556:P397L;ENSP00000276141:P395L;ENSP00000263033:P395L	.	P	-	2	0	SYTL4	99828720	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.631000	0.98424	2.475000	0.83589	0.594000	0.82650	CCA	SYTL4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000102362		0.537	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	128	0.00	0	G	NM_080737	Missense_Mutation	99942064	99942064	-1	no_errors	ENST00000454200	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	1.000	A
TAAR2	9287	genome.wustl.edu	37	6	132938300	132938300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:132938300C>A	ENST00000367931.1	-	2	1044	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	TAAR2_ENST00000537809.1_Nonsense_Mutation_p.E304*|TAAR2_ENST00000275191.2_Nonsense_Mutation_p.E304*			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	349					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TACTCACTTTCTTTTTGCATA	0.328																																						dbGAP											0													27.0	28.0	28.0					6																	132938300		2202	4295	6497	-	-	-	SO:0001587	stop_gained	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.1045G>T	6.37:g.132938300C>A	ENSP00000356908:p.Glu349*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.E349*	ENST00000367931.1	37	c.1045	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040678	0.35989	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	.	.	.	5.96	3.11	0.35812	.	0.567119	0.17265	N	0.180639	.	.	.	.	.	.	0.28889	N	0.893936	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.3012	4.2746	0.10802	0.2812:0.5037:0.1396:0.0755	.	.	.	.	X	304;349;304	.	ENSP00000275191:E304X	E	-	1	0	TAAR2	132979993	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	0.550000	0.23345	0.357000	0.24183	0.650000	0.86243	GAA	TAAR2	-	NULL	ENSG00000146378		0.328	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	78	0.00	0	C	NM_014626		132938300	132938300	-1	no_errors	ENST00000367931	ensembl	human	known	69_37n	nonsense	58	26.58	21	SNP	0.977	A
TAAR2	9287	genome.wustl.edu	37	6	132939135	132939135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:132939135G>T	ENST00000367931.1	-	2	209	c.210C>A	c.(208-210)taC>taA	p.Y70*	TAAR2_ENST00000537809.1_Nonsense_Mutation_p.Y25*|TAAR2_ENST00000275191.2_Nonsense_Mutation_p.Y25*			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	70					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCTGCTTGAAGTAGGAAATGG	0.423																																						dbGAP											0													124.0	116.0	119.0					6																	132939135		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.210C>A	6.37:g.132939135G>T	ENSP00000356908:p.Tyr70*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.Y70*	ENST00000367931.1	37	c.210	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.266306	0.95399	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	.	.	.	5.7	2.48	0.30137	.	0.083254	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-25.606	5.4136	0.16361	0.517:0.0:0.483:0.0	.	.	.	.	X	25;70;25	.	ENSP00000275191:Y25X	Y	-	3	2	TAAR2	132980828	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.093000	0.50217	0.874000	0.35823	0.650000	0.86243	TAC	TAAR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trace_amine_rcpt	ENSG00000146378		0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	407	0.00	0	G	NM_014626		132939135	132939135	-1	no_errors	ENST00000367931	ensembl	human	known	69_37n	nonsense	264	16.40	52	SNP	1.000	T
TAAR1	134864	genome.wustl.edu	37	6	132966741	132966741	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:132966741C>A	ENST00000275216.1	-	1	401	c.402G>T	c.(400-402)aaG>aaT	p.K134N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	134					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AGATATTCATCTTGGCTTTAT	0.418																																						dbGAP											0													61.0	57.0	58.0					6																	132966741		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.402G>T	6.37:g.132966741C>A	ENSP00000275216:p.Lys134Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt	p.K134N	ENST00000275216.1	37	c.402	CCDS5158.1	6	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330703	0.41297	.	.	ENSG00000146399	ENST00000275216	T	0.19669	2.13	5.93	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.268225	0.39909	N	0.001239	T	0.12433	0.0302	M	0.82193	2.58	0.28737	N	0.902182	P	0.35600	0.511	B	0.35312	0.2	T	0.06789	-1.0807	10	0.66056	D	0.02	-2.8487	9.4938	0.38976	0.0:0.6021:0.0:0.3979	.	134	Q96RJ0	TAAR1_HUMAN	N	134	ENSP00000275216:K134N	ENSP00000275216:K134N	K	-	3	2	TAAR1	133008434	0.041000	0.20044	0.097000	0.21041	0.737000	0.42083	-0.435000	0.06931	-0.076000	0.12775	0.555000	0.69702	AAG	TAAR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Trac_amin_rcpt_1	ENSG00000146399		0.418	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR1	HGNC	protein_coding	OTTHUMT00000042259.1	150	0.00	0	C	NM_138327		132966741	132966741	-1	no_errors	ENST00000275216	ensembl	human	known	69_37n	missense	72	11.11	9	SNP	0.621	A
TAB2	23118	genome.wustl.edu	37	6	149719091	149719091	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:149719091G>T	ENST00000367456.1	+	6	2341				TAB2_ENST00000286332.5_Intron|TAB2_ENST00000538427.1_Intron|SUMO4_ENST00000326669.4_5'Flank|TAB2_ENST00000536230.1_Intron			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2						activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TACTTACATAGAATTATTTTT	0.323																																						dbGAP											0													48.0	49.0	48.0					6																	149719091		2202	4299	6501	-	-	-	SO:0001627	intron_variant	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1765-14G>T	6.37:g.149719091G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	RNA	SNP	-	NULL	ENST00000367456.1	37	NULL	CCDS5214.1	6																																																																																			TAB2	-	-	ENSG00000055208		0.323	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	127	0.00	0	G			149719091	149719091	+1	no_errors	ENST00000484505	ensembl	human	known	69_37n	rna	144	10.00	16	SNP	0.860	T
TAC1	6863	genome.wustl.edu	37	7	97364151	97364151	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:97364151C>A	ENST00000319273.5	+	5	576	c.279C>A	c.(277-279)atC>atA	p.I93I	TAC1_ENST00000346867.4_Silent_p.I78I|TAC1_ENST00000350485.4_Silent_p.I93I	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	93					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					ATGGCCAGATCTCTCACAAAA	0.224																																						dbGAP											0													26.0	29.0	28.0					7																	97364151		2150	4228	6378	-	-	-	SO:0001819	synonymous_variant	0			M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.279C>A	7.37:g.97364151C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Silent	SNP	smart_Tachykinin,prints_Protachykinin	p.I93	ENST00000319273.5	37	c.279	CCDS5649.1	7																																																																																			TAC1	-	prints_Protachykinin	ENSG00000006128		0.224	TAC1-001	KNOWN	basic|CCDS	protein_coding	TAC1	HGNC	protein_coding	OTTHUMT00000333696.1	125	0.00	0	C	NM_003182		97364151	97364151	+1	no_errors	ENST00000319273	ensembl	human	known	69_37n	silent	41	24.07	13	SNP	0.929	A
TACC1	6867	genome.wustl.edu	37	8	38677250	38677250	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38677250C>T	ENST00000317827.4	+	3	867	c.488C>T	c.(487-489)tCg>tTg	p.S163L	TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.S118L|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520340.1_Missense_Mutation_p.S127L|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.S163L|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.S179L|TACC1_ENST00000519416.1_5'UTR	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	163	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ACGGATATCTCGGCAGTCCTC	0.502																																						dbGAP											0													99.0	100.0	100.0					8																	38677250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.488C>T	8.37:g.38677250C>T	ENSP00000321703:p.Ser163Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.S163L	ENST00000317827.4	37	c.488	CCDS6109.1	8	.	.	.	.	.	.	.	.	.	.	C	4.301	0.055084	0.08291	.	.	ENSG00000147526	ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931	T;T;T;T;T	0.09723	3.11;3.11;2.95;3.12;3.12	5.19	4.31	0.51392	.	0.712062	0.13155	N	0.409544	T	0.06142	0.0159	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.20638	-1.0269	10	0.38643	T	0.18	-0.9557	7.0365	0.24996	0.0:0.8218:0.0:0.1782	.	179;163;118	B4E302;O75410;O75410-7	.;TACC1_HUMAN;.	L	179;118;135;163;163	ENSP00000393647:S179L;ENSP00000428706:S118L;ENSP00000430355:S135L;ENSP00000321703:S163L;ENSP00000369263:S163L	ENSP00000321703:S163L	S	+	2	0	TACC1	38796407	0.010000	0.17322	0.005000	0.12908	0.015000	0.08874	1.575000	0.36493	2.402000	0.81655	0.563000	0.77884	TCG	TACC1	-	NULL	ENSG00000147526		0.502	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	63	0.00	0	C	NM_006283		38677250	38677250	+1	no_errors	ENST00000379931	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.008	T
TACC1	6867	genome.wustl.edu	37	8	38684895	38684895	+	Splice_Site	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38684895T>C	ENST00000317827.4	+	5	2039		c.e5+2		TACC1_ENST00000520615.1_Splice_Site|TACC1_ENST00000276520.8_Splice_Site|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000520611.1_Splice_Site|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Splice_Site|TACC1_ENST00000379931.3_Splice_Site|TACC1_ENST00000348567.4_Splice_Site|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000519416.1_Splice_Site	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1						cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGAAGCAGGTATGGAAGCAT	0.423																																						dbGAP											0													132.0	103.0	112.0					8																	38684895		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1660+2T>C	8.37:g.38684895T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Splice_Site	SNP	-	e6+2	ENST00000317827.4	37	c.1696+2	CCDS6109.1	8	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042576	0.75732	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000521642;ENST00000521050;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000518809	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7752	0.69726	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TACC1	38804052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.328000	0.65887	2.219000	0.72066	0.533000	0.62120	.	TACC1	-	-	ENSG00000147526		0.423	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	245	0.00	0	T	NM_006283	Intron	38684895	38684895	+1	no_errors	ENST00000379931	ensembl	human	known	69_37n	splice_site	234	11.03	29	SNP	1.000	C
TACC1	6867	genome.wustl.edu	37	8	38697859	38697859	+	Intron	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38697859A>G	ENST00000317827.4	+	9	2339				TACC1_ENST00000520615.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000379931.3_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000519416.1_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1						cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			tggtataacaaaatatgtaag	0.408																																						dbGAP											0													128.0	100.0	109.0					8																	38697859		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1960+74A>G	8.37:g.38697859A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	RNA	SNP	-	NULL	ENST00000317827.4	37	NULL	CCDS6109.1	8																																																																																			TACC1	-	-	ENSG00000147526		0.408	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	255	0.00	0	A	NM_006283		38697859	38697859	+1	no_errors	ENST00000522752	ensembl	human	known	69_37n	rna	242	13.57	38	SNP	0.000	G
TACR1	6869	genome.wustl.edu	37	2	75425986	75425986	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:75425986G>A	ENST00000305249.5	-	1	840	c.75C>T	c.(73-75)ttC>ttT	p.F25F	TACR1_ENST00000409848.3_Silent_p.F25F	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	25					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGGTTGCACGAACTGATTGG	0.537																																					Pancreas(64;62 1268 3653 14826 43765)	dbGAP											0													152.0	139.0	143.0					2																	75425986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.75C>T	2.37:g.75425986G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K150	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.F25	ENST00000305249.5	37	c.75	CCDS1958.1	2																																																																																			TACR1	-	prints_NK1_rcpt	ENSG00000115353		0.537	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	322	0.00	0	G	NM_001058		75425986	75425986	-1	no_errors	ENST00000305249	ensembl	human	known	69_37n	silent	170	13.71	27	SNP	0.987	A
TAF1	6872	genome.wustl.edu	37	X	70602467	70602467	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70602467G>T	ENST00000373790.4	+	10	1667	c.1616G>T	c.(1615-1617)cGa>cTa	p.R539L	TAF1_ENST00000449580.1_Missense_Mutation_p.R539L|TAF1_ENST00000423759.1_Missense_Mutation_p.R560L|TAF1_ENST00000276072.3_Missense_Mutation_p.R560L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	539	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGAAGAGTCGAATTCTCTTA	0.418																																						dbGAP											0													64.0	57.0	59.0					X																	70602467		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1616G>T	X.37:g.70602467G>T	ENSP00000362895:p.Arg539Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R539L	ENST00000373790.4	37	c.1616	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	17.35	3.366304	0.61513	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.93;3.0;2.98;2.93	5.44	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	L	0.40543	1.245	0.58432	D	0.999998	P;B	0.39696	0.683;0.412	B;B	0.39379	0.298;0.146	T	0.02721	-1.1119	10	0.87932	D	0	.	12.9733	0.58525	0.0804:0.0:0.9196:0.0	.	539;560	P21675;P21675-2	TAF1_HUMAN;.	L	539;539;560;560	ENSP00000362895:R539L;ENSP00000389000:R539L;ENSP00000406549:R560L;ENSP00000276072:R560L	ENSP00000276072:R560L	R	+	2	0	TAF1	70519192	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.550000	0.82173	2.400000	0.81607	0.540000	0.68198	CGA	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.418	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	233	0.00	0	G	NM_004606		70602467	70602467	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	205	23.22	62	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32632166	32632166	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:32632166G>A	ENST00000242310.4	-	1	3501	c.3412C>T	c.(3412-3414)Cgt>Tgt	p.R1138C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1138					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCCATTCACGTGACAGCTGA	0.478																																						dbGAP											0													218.0	170.0	186.0					9																	32632166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3412C>T	9.37:g.32632166G>A	ENSP00000418379:p.Arg1138Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1138C	ENST00000242310.4	37	c.3412	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622090	0.46840	.	.	ENSG00000122728	ENST00000242310	T	0.08984	3.03	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.50333	1.59	0.58432	D	0.999998	D	0.65815	0.995	P	0.48571	0.582	T	0.21314	-1.0249	10	0.36615	T	0.2	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1138	Q8IZX4	TAF1L_HUMAN	C	1138	ENSP00000418379:R1138C	ENSP00000418379:R1138C	R	-	1	0	TAF1L	32622166	1.000000	0.71417	0.970000	0.41538	0.629000	0.37895	3.185000	0.50934	0.507000	0.28148	0.195000	0.17529	CGT	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	411	0.24	1	G			32632166	32632166	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	342	24.56	112	SNP	1.000	A
TAF1L	138474	genome.wustl.edu	37	9	32633360	32633360	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:32633360C>T	ENST00000242310.4	-	1	2307	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	740					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAAACAGTTTCCCCATATTTA	0.448																																						dbGAP											0													186.0	184.0	185.0					9																	32633360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2218G>A	9.37:g.32633360C>T	ENSP00000418379:p.Glu740Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E740K	ENST00000242310.4	37	c.2218	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351659	0.61183	.	.	ENSG00000122728	ENST00000242310	T	0.19105	2.17	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.93197	3.39	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.53528	-0.8426	10	0.87932	D	0	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	740	Q8IZX4	TAF1L_HUMAN	K	740	ENSP00000418379:E740K	ENSP00000418379:E740K	E	-	1	0	TAF1L	32623360	1.000000	0.71417	0.992000	0.48379	0.856000	0.48823	3.424000	0.52764	0.632000	0.30432	0.195000	0.17529	GAA	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	416	0.24	1	C			32633360	32633360	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	311	25.65	108	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32633383	32633383	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:32633383C>T	ENST00000242310.4	-	1	2284	c.2195G>A	c.(2194-2196)gGa>gAa	p.G732E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	732					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.G732V(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCTGGTGCTCCAGGATCTTT	0.438																																						dbGAP											1	Substitution - Missense(1)	lung(1)											170.0	169.0	169.0					9																	32633383		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2195G>A	9.37:g.32633383C>T	ENSP00000418379:p.Gly732Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.G732E	ENST00000242310.4	37	c.2195	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717896	0.48622	.	.	ENSG00000122728	ENST00000242310	T	0.12774	2.65	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	L	0.49640	1.575	0.54753	D	0.999985	P	0.46859	0.885	P	0.55222	0.771	T	0.01739	-1.1284	10	0.66056	D	0.02	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	732	Q8IZX4	TAF1L_HUMAN	E	732	ENSP00000418379:G732E	ENSP00000418379:G732E	G	-	2	0	TAF1L	32623383	1.000000	0.71417	0.990000	0.47175	0.850000	0.48378	4.970000	0.63742	0.632000	0.30432	0.195000	0.17529	GGA	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	365	0.00	0	C			32633383	32633383	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	338	10.24	39	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32635410	32635410	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:32635410G>T	ENST00000242310.4	-	1	257	c.168C>A	c.(166-168)gtC>gtA	p.V56V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	56					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCATCCAAGACGCTTTCCC	0.547																																						dbGAP											0													106.0	98.0	101.0					9																	32635410		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.168C>A	9.37:g.32635410G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.V56	ENST00000242310.4	37	c.168	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd	ENSG00000122728		0.547	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	154	0.00	0	G			32635410	32635410	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	silent	136	16.56	27	SNP	0.999	T
TAF2	6873	genome.wustl.edu	37	8	120756623	120756623	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120756623G>T	ENST00000378164.2	-	24	3417	c.3119C>A	c.(3118-3120)tCt>tAt	p.S1040Y	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1040					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCATCTTGAGAACTGGAAAA	0.388																																						dbGAP											0													125.0	125.0	125.0					8																	120756623		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3119C>A	8.37:g.120756623G>T	ENSP00000367406:p.Ser1040Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.S1040Y	ENST00000378164.2	37	c.3119	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447578	0.63178	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.34072	2.32;1.38	5.49	5.49	0.81192	.	0.178423	0.49916	D	0.000133	T	0.25901	0.0631	L	0.27053	0.805	0.50313	D	0.999866	B	0.33379	0.41	B	0.28784	0.094	T	0.09378	-1.0677	10	0.87932	D	0	-20.6425	12.6918	0.56978	0.0751:0.0:0.9249:0.0	.	1040	Q6P1X5	TAF2_HUMAN	Y	1040;216	ENSP00000367406:S1040Y;ENSP00000436750:S216Y	ENSP00000367406:S1040Y	S	-	2	0	TAF2	120825804	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	5.416000	0.66417	2.592000	0.87571	0.467000	0.42956	TCT	TAF2	-	NULL	ENSG00000064313		0.388	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	189	0.00	0	G	NM_003184		120756623	120756623	-1	no_errors	ENST00000378164	ensembl	human	known	69_37n	missense	109	27.33	41	SNP	1.000	T
TAF2	6873	genome.wustl.edu	37	8	120814105	120814105	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:120814105G>A	ENST00000378164.2	-	6	1019	c.721C>T	c.(721-723)Cct>Tct	p.P241S		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	241					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCTGCTGTAGGAATGGTAAGC	0.413																																						dbGAP											0													171.0	147.0	155.0					8																	120814105		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.721C>T	8.37:g.120814105G>A	ENSP00000367406:p.Pro241Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.P241S	ENST00000378164.2	37	c.721	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.126461	0.94429	.	.	ENSG00000064313	ENST00000378164	T	0.06528	3.29	5.78	5.78	0.91487	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.36529	-0.9744	10	0.72032	D	0.01	-12.9686	19.9991	0.97403	0.0:0.0:1.0:0.0	.	241	Q6P1X5	TAF2_HUMAN	S	241	ENSP00000367406:P241S	ENSP00000367406:P241S	P	-	1	0	TAF2	120883286	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.814000	0.99346	2.724000	0.93272	0.655000	0.94253	CCT	TAF2	-	pfam_Peptidase_M1_N	ENSG00000064313		0.413	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	254	0.00	0	G	NM_003184		120814105	120814105	-1	no_errors	ENST00000378164	ensembl	human	known	69_37n	missense	193	22.49	56	SNP	1.000	A
TAF4	6874	genome.wustl.edu	37	20	60584219	60584219	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:60584219T>G	ENST00000252996.4	-	5	1772	c.1773A>C	c.(1771-1773)gaA>gaC	p.E591D	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	591	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTTCACGTTTTCCATAGTTT	0.343																																						dbGAP											0													61.0	61.0	61.0					20																	60584219		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1773A>C	20.37:g.60584219T>G	ENSP00000252996:p.Glu591Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.E591D	ENST00000252996.4	37	c.1773	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	t	19.23	3.787331	0.70337	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.49139	0.79;0.79	5.15	2.86	0.33363	TAFH/NHR1 (2);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.61387	1.9	0.58432	D	0.999999	P	0.44659	0.84	P	0.62298	0.9	T	0.51694	-0.8673	10	0.30078	T	0.28	-16.3236	9.5581	0.39351	0.0:0.1456:0.0:0.8544	.	591	O00268	TAF4_HUMAN	D	591;455	ENSP00000252996:E591D;ENSP00000399091:E455D	ENSP00000252996:E591D	E	-	3	2	TAF4	60017614	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.248000	0.32827	0.284000	0.22305	-0.360000	0.07572	GAA	TAF4	-	pfam_TAFH_NHR1,pfscan_TAFH_NHR1	ENSG00000130699		0.343	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	85	0.00	0	T	NM_003185		60584219	60584219	-1	no_errors	ENST00000252996	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	G
TAF7L	54457	genome.wustl.edu	37	X	100547877	100547877	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:100547877C>T	ENST00000372907.3	-	1	168	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	53					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGGGTGCCTTCGTCGCCAGCA	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	dbGAP											0													138.0	135.0	136.0					X																	100547877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.157G>A	X.37:g.100547877C>T	ENSP00000361998:p.Glu53Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.E53K	ENST00000372907.3	37	c.157	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587327	0.46110	.	.	ENSG00000102387	ENST00000372907	T	0.13089	2.62	3.67	1.78	0.24846	.	2.187050	0.02582	N	0.098991	T	0.06735	0.0172	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.31194	-0.9952	10	0.02654	T	1	4.8076	6.2537	0.20861	0.0:0.3869:0.4112:0.2019	.	53	Q5H9L4	TAF7L_HUMAN	K	53	ENSP00000361998:E53K	ENSP00000361998:E53K	E	-	1	0	TAF7L	100434533	0.000000	0.05858	0.003000	0.11579	0.055000	0.15305	-0.032000	0.12266	0.038000	0.15604	-0.170000	0.13304	GAA	TAF7L	-	NULL	ENSG00000102387		0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	136	0.00	0	C			100547877	100547877	-1	no_errors	ENST00000372907	ensembl	human	known	69_37n	missense	60	34.07	31	SNP	0.003	T
TAF9	6880	genome.wustl.edu	37	5	68662387	68662387	+	5'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:68662387C>A	ENST00000328663.4	-	0	392				TAF9_ENST00000380822.4_Nonsense_Mutation_p.E22*|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000217893.5_5'UTR|RAD17_ENST00000361732.2_5'Flank|TAF9_ENST00000380818.3_Nonsense_Mutation_p.E19*|TAF9_ENST00000506736.1_5'UTR	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa						cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GACGCAAGTTCTTTGCCTAGT	0.388																																						dbGAP											0													198.0	170.0	179.0					5																	68662387		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.-75G>T	5.37:g.68662387C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWA3|Q5U0D1|Q9BTS1	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core	p.E22*	ENST00000328663.4	37	c.64	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.393222	0.96009	.	.	ENSG00000085231	ENST00000380822;ENST00000380818	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-8.0788	17.735	0.88390	0.0:1.0:0.0:0.0	.	.	.	.	X	22;19	.	ENSP00000370197:E19X	E	-	1	0	TAF9	68698143	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.212000	0.72188	2.466000	0.83321	0.655000	0.94253	GAA	TAF9	-	pfam_ATPase_AAA_core	ENSG00000085231		0.388	TAF9-201	KNOWN	basic|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216803.1	381	0.00	0	C	NM_003187		68662387	68662387	-1	no_errors	ENST00000380822	ensembl	human	known	69_37n	nonsense	202	11.79	27	SNP	1.000	A
TALDO1	6888	genome.wustl.edu	37	11	760196	760196	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:760196delG	ENST00000319006.3	+	4	557	c.404delG	c.(403-405)agcfs	p.S135fs	TALDO1_ENST00000528097.1_Frame_Shift_Del_p.S135fs			P37837	TALDO_HUMAN	transaldolase 1	135					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCTGGGATCAGCAAGGACCGA	0.512																																						dbGAP											0													113.0	112.0	113.0					11																	760196		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.404delG	11.37:g.760196delG	ENSP00000321259:p.Ser135fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M2|O00751|Q8WV32|Q8WZ45	Frame_Shift_Del	DEL	pfam_Transaldolase,tigrfam_Transaldolase_1	p.S135fs	ENST00000319006.3	37	c.404	CCDS7712.1	11																																																																																			TALDO1	-	pfam_Transaldolase,tigrfam_Transaldolase_1	ENSG00000177156		0.512	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TALDO1	HGNC	protein_coding	OTTHUMT00000257116.1	115	0.00	0	G	NM_006755		760196	760196	+1	no_errors	ENST00000319006	ensembl	human	known	69_37n	frame_shift_del	102	15.57	19	DEL	1.000	-
TALDO1	6888	genome.wustl.edu	37	11	760197	760197	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:760197C>A	ENST00000319006.3	+	4	558	c.405C>A	c.(403-405)agC>agA	p.S135R	TALDO1_ENST00000528097.1_Missense_Mutation_p.S135R			P37837	TALDO_HUMAN	transaldolase 1	135					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CTGGGATCAGCAAGGACCGAA	0.507																																						dbGAP											0													113.0	113.0	113.0					11																	760197		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.405C>A	11.37:g.760197C>A	ENSP00000321259:p.Ser135Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	pfam_Transaldolase,tigrfam_Transaldolase_1	p.S135R	ENST00000319006.3	37	c.405	CCDS7712.1	11	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637857	0.47049	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.86497	-2.13;-2.13	4.79	4.79	0.61399	Aldolase-type TIM barrel (1);	0.489151	0.27664	N	0.018371	D	0.86083	0.5848	M	0.80982	2.52	0.47584	D	0.999468	B;B	0.23990	0.095;0.007	B;B	0.26693	0.072;0.043	D	0.84173	0.0435	10	0.52906	T	0.07	-19.4362	7.7615	0.28955	0.0:0.8187:0.0:0.1812	.	135;135	F2Z393;P37837	.;TALDO_HUMAN	R	135	ENSP00000321259:S135R;ENSP00000437098:S135R	ENSP00000321259:S135R	S	+	3	2	TALDO1	750197	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	1.012000	0.29924	2.360000	0.80028	0.655000	0.94253	AGC	TALDO1	-	pfam_Transaldolase,tigrfam_Transaldolase_1	ENSG00000177156		0.507	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TALDO1	HGNC	protein_coding	OTTHUMT00000257116.1	116	0.00	0	C	NM_006755		760197	760197	+1	no_errors	ENST00000319006	ensembl	human	known	69_37n	missense	102	15.70	19	SNP	1.000	A
TANC1	85461	genome.wustl.edu	37	2	160005675	160005675	+	Silent	SNP	G	G	A	rs369595030	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:160005675G>A	ENST00000263635.6	+	6	624	c.387G>A	c.(385-387)ccG>ccA	p.P129P	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	129					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATAATGAACCGAGCTGTTCGC	0.463																																						dbGAP											0													122.0	119.0	120.0					2																	160005675		1877	4089	5966	-	-	-	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.387G>A	2.37:g.160005675G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P129	ENST00000263635.6	37	c.387	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.463	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	317	0.00	0	G			160005675	160005675	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	silent	227	15.30	41	SNP	1.000	A
TANC2	26115	genome.wustl.edu	37	17	61176708	61176708	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:61176708G>T	ENST00000424789.2	+	3	215				TANC2_ENST00000389520.4_Intron	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2						in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCCTGTGAAGAAGTTAACTG	0.428																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.211+101G>T	17.37:g.61176708G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Nonsense_Mutation	SNP	NULL	p.E77*	ENST00000424789.2	37	c.229	CCDS45754.1	17																																																																																			TANC2	-	NULL	ENSG00000170921		0.428	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	56	0.00	0	G			61176708	61176708	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000580466	ensembl	human	novel	69_37n	nonsense	41	14.58	7	SNP	1.000	T
TANC2	26115	genome.wustl.edu	37	17	61498178	61498178	+	Missense_Mutation	SNP	T	T	C	rs369696442		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:61498178T>C	ENST00000424789.2	+	25	4839	c.4835T>C	c.(4834-4836)aTt>aCt	p.I1612T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.I1622T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1612					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAGGCCCAGATTGTGAGAAGT	0.577																																						dbGAP											0													66.0	69.0	68.0					17																	61498178		2043	4194	6237	-	-	-	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4835T>C	17.37:g.61498178T>C	ENSP00000387593:p.Ile1612Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.I1612T	ENST00000424789.2	37	c.4835	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460615	0.63513	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.72942	-0.7;-0.7	5.5	5.5	0.81552	.	0.108006	0.64402	D	0.000013	T	0.60444	0.2269	L	0.29908	0.895	0.58432	D	0.999998	P	0.37781	0.608	B	0.34722	0.188	T	0.66188	-0.5986	10	0.72032	D	0.01	.	15.6039	0.76646	0.0:0.0:0.0:1.0	.	1612	Q9HCD6	TANC2_HUMAN	T	1622;1612	ENSP00000374171:I1622T;ENSP00000387593:I1612T	ENSP00000374171:I1622T	I	+	2	0	TANC2	58851910	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.841000	0.86834	2.102000	0.63906	0.459000	0.35465	ATT	TANC2	-	NULL	ENSG00000170921		0.577	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	41	0.00	0	T			61498178	61498178	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	missense	19	42.42	14	SNP	1.000	C
TAP2	6891	genome.wustl.edu	37	6	32797291	32797291	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:32797291C>T	ENST00000452392.2	-	11	1991	c.1818G>A	c.(1816-1818)caG>caA	p.Q606Q	TAP2_ENST00000374899.4_Silent_p.Q606Q|TAP2_ENST00000374897.2_Silent_p.Q606Q|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	CCGCAGCCAGCTGGCTTCCCT	0.557																																						dbGAP											0													72.0	73.0	73.0					6																	32797291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1818G>A	6.37:g.32797291C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.Q606	ENST00000452392.2	37	c.1818		6																																																																																			TAP2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2	ENSG00000204267		0.557	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	296	0.00	0	C	NM_000544		32797291	32797291	-1	no_errors	ENST00000374897	ensembl	human	known	69_37n	silent	200	16.18	39	SNP	1.000	T
TAP1	6890	genome.wustl.edu	37	6	32818169	32818169	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:32818169T>G	ENST00000354258.4	-	5	1517	c.1356A>C	c.(1354-1356)gaA>gaC	p.E452D	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.E191D	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	452	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CTTGCAGCTTTTCCCTAAACT	0.527																																						dbGAP											0													135.0	132.0	133.0					6																	32818169		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1356A>C	6.37:g.32818169T>G	ENSP00000346206:p.Glu452Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16149|Q96CP4	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_ABC_B2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	p.E452D	ENST00000354258.4	37	c.1356	CCDS4758.1	6	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245501	0.39697	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.90385	-2.66;-2.66	5.72	-1.09	0.09904	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.399900	0.04872	N	0.446153	T	0.64616	0.2614	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.22152	0.038	T	0.57306	-0.7834	10	0.19590	T	0.45	-8.4846	5.9005	0.18964	0.1418:0.4684:0.0:0.3898	.	452	Q03518	TAP1_HUMAN	D	452;191	ENSP00000346206:E452D;ENSP00000401919:E191D	ENSP00000346206:E452D	E	-	3	2	TAP1	32926147	0.001000	0.12720	0.994000	0.49952	0.989000	0.77384	-0.014000	0.12656	-0.090000	0.12462	0.523000	0.50628	GAA	TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Ag_transporter2	ENSG00000168394		0.527	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	293	0.00	0	T	NM_000593		32818169	32818169	-1	no_errors	ENST00000354258	ensembl	human	known	69_37n	missense	146	28.08	57	SNP	0.194	G
TARS	6897	genome.wustl.edu	37	5	33455805	33455805	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:33455805T>A	ENST00000265112.3	+	6	1000	c.689T>A	c.(688-690)tTt>tAt	p.F230Y	TARS_ENST00000455217.2_Missense_Mutation_p.F263Y|TARS_ENST00000502553.1_Missense_Mutation_p.F230Y|TARS_ENST00000414361.2_Missense_Mutation_p.F109Y|TARS_ENST00000541634.1_Missense_Mutation_p.F126Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	230					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTGGCAATGTTTAAGGTAAAT	0.368																																						dbGAP											0													60.0	63.0	62.0					5																	33455805		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.689T>A	5.37:g.33455805T>A	ENSP00000265112:p.Phe230Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.F230Y	ENST00000265112.3	37	c.689	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	T	34	5.320992	0.95682	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	5.35	5.35	0.76521	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	P;D;D;D	0.91635	0.803;0.999;0.996;0.999	T	0.31752	-0.9932	10	0.87932	D	0	-6.0779	15.3674	0.74535	0.0:0.0:0.0:1.0	.	109;263;126;230	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	Y	230;230;126;263;109	ENSP00000424387:F230Y;ENSP00000265112:F230Y;ENSP00000438469:F126Y;ENSP00000387710:F263Y;ENSP00000394291:F109Y	ENSP00000265112:F230Y	F	+	2	0	TARS	33491562	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.013000	0.88655	2.046000	0.60703	0.472000	0.43445	TTT	TARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.368	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	101	0.00	0	T	NM_152295		33455805	33455805	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	missense	65	13.33	10	SNP	1.000	A
TAS2R1	50834	genome.wustl.edu	37	5	9629981	9629981	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:9629981C>A	ENST00000382492.2	-	1	482	c.164G>T	c.(163-165)aGa>aTa	p.R55I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	55					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CAGAAAAATTCTAGAAACTGC	0.373																																						dbGAP											0													47.0	50.0	49.0					5																	9629981		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.164G>T	5.37:g.9629981C>A	ENSP00000371932:p.Arg55Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q646G8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R55I	ENST00000382492.2	37	c.164	CCDS3876.1	5	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897794	0.72639	.	.	ENSG00000169777	ENST00000382492	T	0.37411	1.2	5.32	5.32	0.75619	.	0.254850	0.36303	N	0.002677	T	0.67618	0.2912	M	0.89601	3.045	0.29039	N	0.885215	D	0.89917	1.0	D	0.91635	0.999	T	0.68526	-0.5385	9	.	.	.	.	16.5409	0.84384	0.0:1.0:0.0:0.0	.	55	Q9NYW7	TA2R1_HUMAN	I	55	ENSP00000371932:R55I	.	R	-	2	0	TAS2R1	9682981	0.040000	0.19996	0.035000	0.18076	0.020000	0.10135	1.220000	0.32491	2.767000	0.95098	0.655000	0.94253	AGA	TAS2R1	-	pfam_TAS2_rcpt	ENSG00000169777		0.373	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R1	HGNC	protein_coding	OTTHUMT00000206988.2	63	0.00	0	C			9629981	9629981	-1	no_errors	ENST00000382492	ensembl	human	known	69_37n	missense	42	23.64	13	SNP	0.216	A
TARS	6897	genome.wustl.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	663					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											85.0	81.0	82.0					5																	33467054		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1987C>T	5.37:g.33467054C>T	ENSP00000265112:p.Arg663*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Nonsense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	p.R663*	ENST00000265112.3	37	c.1987	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	c	39	7.596827	0.98381	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.62	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7129	12.571	0.56337	0.725:0.275:0.0:0.0	.	.	.	.	X	663;663;559;696;542	.	ENSP00000265112:R663X	R	+	1	2	TARS	33502811	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.600000	0.46240	0.400000	0.25396	-0.262000	0.10625	CGA	TARS	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-synth_IIa	ENSG00000113407		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	118	0.00	0	C	NM_152295		33467054	33467054	+1	no_errors	ENST00000265112	ensembl	human	known	69_37n	nonsense	66	22.35	19	SNP	1.000	T
TAS2R16	50833	genome.wustl.edu	37	7	122635522	122635522	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:122635522C>T	ENST00000249284.2	-	1	232	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	56					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGACAGAAGCGAGAGATGCC	0.433																																						dbGAP											0													66.0	65.0	65.0					7																	122635522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.167G>A	7.37:g.122635522C>T	ENSP00000249284:p.Arg56His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R56H	ENST00000249284.2	37	c.167	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	C	6.540	0.467819	0.12402	.	.	ENSG00000128519	ENST00000249284	T	0.37058	1.22	4.61	-4.9	0.03094	.	0.643410	0.14179	N	0.336153	T	0.24812	0.0602	M	0.64997	1.995	0.09310	N	1	P	0.39665	0.682	B	0.35859	0.212	T	0.08330	-1.0727	10	0.87932	D	0	.	2.4842	0.04595	0.1277:0.2371:0.1261:0.5091	.	56	Q9NYV7	T2R16_HUMAN	H	56	ENSP00000249284:R56H	ENSP00000249284:R56H	R	-	2	0	TAS2R16	122422758	0.880000	0.30214	0.000000	0.03702	0.035000	0.12851	0.324000	0.19610	-1.254000	0.02485	-0.136000	0.14681	CGC	TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.433	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	136	0.00	0	C	NM_016945		122635522	122635522	-1	no_errors	ENST00000249284	ensembl	human	known	69_37n	missense	73	23.96	23	SNP	0.001	T
TAS2R46	259292	genome.wustl.edu	37	12	11214799	11214799	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:11214799G>A	ENST00000533467.1	-	1	94	c.95C>T	c.(94-96)tCc>tTc	p.S32F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	32					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCACTCAATGGAATTTACCAA	0.363																																						dbGAP											0													48.0	47.0	47.0					12																	11214799		1922	4197	6119	-	-	-	SO:0001583	missense	0			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.95C>T	12.37:g.11214799G>A	ENSP00000436450:p.Ser32Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S32F	ENST00000533467.1	37	c.95	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	G	0.235	-1.017684	0.02078	.	.	ENSG00000226761	ENST00000533467	T	0.00700	5.82	2.4	-2.17	0.07059	.	.	.	.	.	T	0.00440	0.0014	N	0.05124	-0.11	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.42224	-0.9464	9	0.17832	T	0.49	.	3.4178	0.07382	0.0:0.2912:0.2273:0.4815	.	32	P59540	T2R46_HUMAN	F	32	ENSP00000436450:S32F	ENSP00000436450:S32F	S	-	2	0	TAS2R46	11106066	0.000000	0.05858	0.014000	0.15608	0.008000	0.06430	-0.795000	0.04580	-0.409000	0.07553	0.194000	0.17425	TCC	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.363	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	137	0.00	0	G	NM_176887		11214799	11214799	-1	no_errors	ENST00000533467	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	0.025	A
TAS2R43	259289	genome.wustl.edu	37	12	11244177	11244177	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:11244177C>A	ENST00000531678.1	-	1	735	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	218					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GTGCTGGGATCTTGAGATCCT	0.403																																						dbGAP											0													128.0	109.0	116.0					12																	11244177		2172	4232	6404	-	-	-	SO:0001583	missense	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.652G>T	12.37:g.11244177C>A	ENSP00000431719:p.Asp218Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.D218Y	ENST00000531678.1	37	c.652	CCDS53749.1	12	.	.	.	.	.	.	.	.	.	.	-	11.05	1.526105	0.27299	.	.	ENSG00000255374	ENST00000531678	T	0.38077	1.16	2.01	2.01	0.26516	.	.	.	.	.	T	0.69940	0.3167	H	0.97962	4.115	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58329	-0.7655	9	0.87932	D	0	.	7.4028	0.26973	0.0:1.0:0.0:0.0	.	218	P59537	T2R43_HUMAN	Y	218	ENSP00000431719:D218Y	ENSP00000431719:D218Y	D	-	1	0	TAS2R43	11135444	0.000000	0.05858	0.032000	0.17829	0.023000	0.10783	0.579000	0.23788	1.097000	0.41459	0.195000	0.17529	GAT	TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.403	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	190	0.00	0	C	NM_176884		11244177	11244177	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	missense	140	20.45	36	SNP	0.024	A
TAS2R5	54429	genome.wustl.edu	37	7	141490680	141490680	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:141490680C>A	ENST00000247883.4	+	1	664	c.519C>A	c.(517-519)ctC>ctA	p.L173L		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	173					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CATTTCAGCTCAATTCAGGAA	0.423																																						dbGAP											0													151.0	123.0	133.0					7																	141490680		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.519C>A	7.37:g.141490680C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q645W0|Q75MV7	Silent	SNP	pfam_TAS2_rcpt	p.L173	ENST00000247883.4	37	c.519	CCDS5869.1	7																																																																																			TAS2R5	-	pfam_TAS2_rcpt	ENSG00000127366		0.423	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R5	HGNC	protein_coding	OTTHUMT00000349283.1	237	0.00	0	C			141490680	141490680	+1	no_errors	ENST00000247883	ensembl	human	known	69_37n	silent	139	34.74	74	SNP	0.000	A
TAS2R50	259296	genome.wustl.edu	37	12	11139340	11139340	+	Silent	SNP	C	C	T	rs149076191		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:11139340C>T	ENST00000506868.1	-	1	171	c.120G>A	c.(118-120)aaG>aaA	p.K40K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	40					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						CTGAGGAGATCTTTTTTCTCT	0.368																																						dbGAP											0													67.0	74.0	72.0					12																	11139340		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.120G>A	12.37:g.11139340C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P59545|Q2M255|Q645Y0	Silent	SNP	pfam_TAS2_rcpt	p.K40	ENST00000506868.1	37	c.120	CCDS8638.1	12																																																																																			TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.368	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2	110	0.00	0	C	NM_176890		11139340	11139340	-1	no_errors	ENST00000506868	ensembl	human	known	69_37n	silent	49	23.44	15	SNP	0.000	T
TBC1D14	57533	genome.wustl.edu	37	4	6925232	6925232	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:6925232G>A	ENST00000409757.4	+	2	240	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R39Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	39					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGGCGCCCCGACTCCTCTCC	0.587																																						dbGAP											0													81.0	81.0	81.0					4																	6925232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.116G>A	4.37:g.6925232G>A	ENSP00000386921:p.Arg39Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R39Q	ENST00000409757.4	37	c.116	CCDS3394.2	4	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202825	0.38905	.	.	ENSG00000132405	ENST00000444368;ENST00000448507;ENST00000409757;ENST00000427736	T;T;T;T	0.71817	0.59;3.46;3.46;-0.6	4.25	2.47	0.30058	.	0.365902	0.22217	N	0.063017	T	0.70657	0.3249	L	0.29908	0.895	0.09310	N	0.999991	D	0.76494	0.999	D	0.72625	0.978	T	0.59700	-0.7405	10	0.26408	T	0.33	-0.867	8.7806	0.34789	0.0846:0.1509:0.7645:0.0	.	39	Q9P2M4	TBC14_HUMAN	Q	39	ENSP00000414951:R39Q;ENSP00000404041:R39Q;ENSP00000386921:R39Q;ENSP00000411760:R39Q	ENSP00000386921:R39Q	R	+	2	0	TBC1D14	6976133	0.003000	0.15002	0.043000	0.18650	0.116000	0.19942	1.303000	0.33470	0.419000	0.25927	0.467000	0.42956	CGA	TBC1D14	-	NULL	ENSG00000132405		0.587	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	47	0.00	0	G	NM_020773		6925232	6925232	+1	no_errors	ENST00000409757	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.127	A
TBC1D1	23216	genome.wustl.edu	37	4	37903762	37903762	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:37903762G>A	ENST00000261439.4	+	2	401	c.46G>A	c.(46-48)Gag>Aag	p.E16K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E16K|TBC1D1_ENST00000402522.1_Missense_Mutation_p.E16K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	16					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCTTTCTAACGAGGTCTCGGT	0.522																																						dbGAP											0													108.0	99.0	102.0					4																	37903762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.46G>A	4.37:g.37903762G>A	ENSP00000261439:p.Glu16Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E16K	ENST00000261439.4	37	c.46	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716289	0.48622	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000402522	T;T;T	0.15487	2.42;2.42;2.42	5.79	5.79	0.91817	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.127393	0.35466	N	0.003193	T	0.11196	0.0273	L	0.36672	1.1	0.35263	D	0.779733	P;B	0.44659	0.84;0.291	B;B	0.25405	0.06;0.014	T	0.27536	-1.0071	10	0.29301	T	0.29	-21.7002	15.1719	0.72881	0.0:0.1407:0.8593:0.0	.	16;16	E9PGH8;Q86TI0	.;TBCD1_HUMAN	K	16	ENSP00000423651:E16K;ENSP00000261439:E16K;ENSP00000383994:E16K	ENSP00000261439:E16K	E	+	1	0	TBC1D1	37580157	1.000000	0.71417	0.430000	0.26722	0.469000	0.32828	6.111000	0.71541	2.746000	0.94184	0.460000	0.39030	GAG	TBC1D1	-	smart_PTyr_interaction_dom	ENSG00000065882		0.522	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	126	0.00	0	G	NM_015173		37903762	37903762	+1	no_errors	ENST00000261439	ensembl	human	known	69_37n	missense	65	16.67	13	SNP	0.737	A
TBC1D17	79735	genome.wustl.edu	37	19	50387620	50387620	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:50387620G>A	ENST00000221543.5	+	11	1536	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D380N	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	413	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTATCACTTCGACCTCGGTGG	0.667																																						dbGAP											0													139.0	138.0	138.0					19																	50387620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1237G>A	19.37:g.50387620G>A	ENSP00000221543:p.Asp413Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D413N	ENST00000221543.5	37	c.1237	CCDS12785.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.312280	0.95655	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.05025	3.51;3.51	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.26340	0.0643	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00601	-1.1650	10	0.46703	T	0.11	-39.4236	16.2481	0.82460	0.0:0.0:1.0:0.0	.	380;413	F5H1W7;Q9HA65	.;TBC17_HUMAN	N	413;380	ENSP00000221543:D413N;ENSP00000446323:D380N	ENSP00000221543:D413N	D	+	1	0	TBC1D17	55079432	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	9.097000	0.94193	2.424000	0.82194	0.561000	0.74099	GAC	TBC1D17	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000104946		0.667	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D17	HGNC	protein_coding	OTTHUMT00000466404.1	41	0.00	0	G	NM_024682		50387620	50387620	+1	no_errors	ENST00000221543	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	A
TBC1D21	161514	genome.wustl.edu	37	15	74180789	74180789	+	Missense_Mutation	SNP	G	G	A	rs183579451	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:74180789G>A	ENST00000300504.2	+	10	996	c.913G>A	c.(913-915)Gac>Aac	p.D305N	TBC1D21_ENST00000562056.1_Missense_Mutation_p.D268N|TBC1D21_ENST00000535547.2_Missense_Mutation_p.D269N|AC108137.1_ENST00000410132.1_RNA	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	305						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAACCTCATCGACCTTGATGC	0.572													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16901	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													187.0	135.0	152.0					15																	74180789		2198	4297	6495	-	-	-	SO:0001583	missense	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.913G>A	15.37:g.74180789G>A	ENSP00000300504:p.Asp305Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D305N	ENST00000300504.2	37	c.913	CCDS10252.1	15	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.39	2.520500	0.44866	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.21031	2.03;2.03	5.28	5.28	0.74379	Rab-GAP/TBC domain (1);	0.000000	0.64402	D	0.000010	T	0.28499	0.0705	L	0.27053	0.805	0.38875	D	0.956774	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.954	T	0.02668	-1.1126	10	0.06757	T	0.87	.	14.4272	0.67225	0.0:0.0:1.0:0.0	.	269;305	B9A6M2;Q8IYX1	.;TBC21_HUMAN	N	305;269	ENSP00000300504:D305N;ENSP00000439325:D269N	ENSP00000300504:D305N	D	+	1	0	TBC1D21	71967842	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	4.683000	0.61679	2.471000	0.83476	0.561000	0.74099	GAC	TBC1D21	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000167139		0.572	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	159	0.00	0	G	NM_153356		74180789	74180789	+1	no_errors	ENST00000300504	ensembl	human	known	69_37n	missense	140	10.76	17	SNP	0.998	A
TBC1D24	57465	genome.wustl.edu	37	16	2546637	2546637	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:2546637A>G	ENST00000293970.5	+	2	621	c.488A>G	c.(487-489)gAc>gGc	p.D163G	TBC1D24_ENST00000434757.2_Missense_Mutation_p.D163G|TBC1D24_ENST00000567020.1_Missense_Mutation_p.D163G|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.D163G	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	163	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCCTGCAATGACCCCGGCAGG	0.647																																						dbGAP											0													26.0	30.0	29.0					16																	2546637		2168	4272	6440	-	-	-	SO:0001583	missense	0			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.488A>G	16.37:g.2546637A>G	ENSP00000293970:p.Asp163Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.D163G	ENST00000293970.5	37	c.488	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506834	0.44558	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.11604	2.76;2.76	5.41	5.41	0.78517	Rab-GAP/TBC domain (2);	0.141445	0.64402	D	0.000005	T	0.20536	0.0494	M	0.64997	1.995	0.58432	D	0.999998	P;P;P	0.39376	0.67;0.67;0.619	P;P;B	0.48571	0.527;0.582;0.329	T	0.02173	-1.1201	10	0.22706	T	0.39	-35.3062	14.2995	0.66336	1.0:0.0:0.0:0.0	.	163;163;163	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	G	163	ENSP00000293970:D163G;ENSP00000390106:D163G	ENSP00000293970:D163G	D	+	2	0	TBC1D24	2486638	1.000000	0.71417	0.687000	0.30102	0.076000	0.17211	5.887000	0.69751	2.054000	0.61138	0.523000	0.50628	GAC	TBC1D24	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000162065		0.647	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	30	0.00	0	A	NM_020705		2546637	2546637	+1	no_errors	ENST00000293970	ensembl	human	known	69_37n	missense	11	21.43	3	SNP	1.000	G
TBC1D24	57465	genome.wustl.edu	37	16	2546965	2546965	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:2546965C>T	ENST00000293970.5	+	2	949	c.816C>T	c.(814-816)ttC>ttT	p.F272F	TBC1D24_ENST00000434757.2_Silent_p.F272F|TBC1D24_ENST00000567020.1_Silent_p.F272F|RP11-20I23.1_ENST00000564543.1_Silent_p.F272F	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	272					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCGCACGTTCGTCAGAGACA	0.622																																						dbGAP											0													63.0	70.0	67.0					16																	2546965		2164	4267	6431	-	-	-	SO:0001819	synonymous_variant	0			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.816C>T	16.37:g.2546965C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNW3|B9A6M6|Q2KJ08	Silent	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.F272	ENST00000293970.5	37	c.816	CCDS55980.1	16																																																																																			TBC1D24	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000162065		0.622	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	39	0.00	0	C	NM_020705		2546965	2546965	+1	no_errors	ENST00000293970	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.470	T
TBC1D25	4943	genome.wustl.edu	37	X	48418594	48418594	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:48418594C>T	ENST00000376771.4	+	6	1639	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.S179L	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	433	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTTGGAGTTCGCTGCCCCCT	0.607																																						dbGAP											0													36.0	24.0	28.0					X																	48418594		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1298C>T	X.37:g.48418594C>T	ENSP00000365962:p.Ser433Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S433L	ENST00000376771.4	37	c.1298	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836782	0.71373	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.21191	2.02;2.02	5.65	5.65	0.86999	Rab-GAP/TBC domain (3);	0.067807	0.64402	D	0.000012	T	0.35278	0.0926	M	0.76574	2.34	0.58432	D	0.999997	D;D;P	0.58268	0.982;0.982;0.864	P;P;B	0.48524	0.58;0.58;0.259	T	0.19128	-1.0315	10	0.56958	D	0.05	-7.5331	16.0324	0.80588	0.0:1.0:0.0:0.0	.	437;375;433	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	L	433;179	ENSP00000365962:S433L;ENSP00000444091:S179L	ENSP00000365962:S433L	S	+	2	0	TBC1D25	48303538	1.000000	0.71417	0.204000	0.23530	0.931000	0.56810	7.077000	0.76814	2.387000	0.81309	0.431000	0.28591	TCG	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000068354		0.607	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	45	0.00	0	C	NM_002536		48418594	48418594	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	46	12.96	7	SNP	0.997	T
TBC1D3P2	440452	genome.wustl.edu	37	17	60351192	60351192	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:60351192G>A	ENST00000602932.1	-	0	337				TBC1D3P2_ENST00000581291.1_RNA																							TGTTGTTGTAGCTTCCAAAAG	0.562																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0																														ENST00000602932.1:c.*97C>T	17.37:g.60351192G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000602932.1	37	NULL		17																																																																																			TBC1D3P2	-	-	ENSG00000188755		0.562	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	TBC1D3P2	HGNC	protein_coding	OTTHUMT00000467667.1	78	0.00	0	G			60351192	60351192	-1	no_errors	ENST00000339120	ensembl	human	known	69_37n	rna	50	15.25	9	SNP	0.049	A
TBC1D9	23158	genome.wustl.edu	37	4	141600789	141600789	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:141600789G>T	ENST00000442267.2	-	4	643	c.569C>A	c.(568-570)tCt>tAt	p.S190Y		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	190	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATAAGAAAAGAATAAAAGCA	0.418																																						dbGAP											0													49.0	48.0	49.0					4																	141600789		1823	4084	5907	-	-	-	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.569C>A	4.37:g.141600789G>T	ENSP00000411197:p.Ser190Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S190Y	ENST00000442267.2	37	c.569	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773176	0.90108	.	.	ENSG00000109436	ENST00000442267	D	0.93189	-3.18	5.41	5.41	0.78517	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98742	1.0717	10	0.87932	D	0	.	19.2074	0.93736	0.0:0.0:1.0:0.0	.	190	Q6ZT07	TBCD9_HUMAN	Y	190	ENSP00000411197:S190Y	ENSP00000411197:S190Y	S	-	2	0	TBC1D9	141820239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.548000	0.85928	0.655000	0.94253	TCT	TBC1D9	-	pfam_GRAM,smart_GRAM	ENSG00000109436		0.418	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	149	0.00	0	G	NM_015130		141600789	141600789	-1	no_errors	ENST00000442267	ensembl	human	known	69_37n	missense	69	30.30	30	SNP	1.000	T
TBC1D9B	23061	genome.wustl.edu	37	5	179302161	179302161	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:179302161C>T	ENST00000356834.3	-	12	1964	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E643K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	643	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGAGCTCTTCGAAGATGCCT	0.632																																						dbGAP											0													61.0	60.0	61.0					5																	179302161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1927G>A	5.37:g.179302161C>T	ENSP00000349291:p.Glu643Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.E643K	ENST00000356834.3	37	c.1927	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.688961	0.96784	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.12774	2.65;2.65	5.29	5.29	0.74685	Rab-GAP/TBC domain (5);	0.123881	0.56097	D	0.000039	T	0.37489	0.1005	M	0.65320	2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.993	T	0.06789	-1.0807	10	0.59425	D	0.04	-22.5221	18.9379	0.92594	0.0:1.0:0.0:0.0	.	643;643;643	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	K	643	ENSP00000349291:E643K;ENSP00000347375:E643K	ENSP00000347375:E643K	E	-	1	0	TBC1D9B	179234767	1.000000	0.71417	0.970000	0.41538	0.974000	0.67602	7.743000	0.85020	2.469000	0.83416	0.491000	0.48974	GAA	TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000197226		0.632	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	24	0.00	0	C	NM_015043		179302161	179302161	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	1.000	T
TBPL2	387332	genome.wustl.edu	37	14	55903513	55903513	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:55903513G>A	ENST00000247219.5	-	2	444	c.374C>T	c.(373-375)tCt>tTt	p.S125F		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTGGCTTTCAGAATTTTCTTC	0.453																																						dbGAP											0													218.0	181.0	193.0					14																	55903513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.374C>T	14.37:g.55903513G>A	ENSP00000247219:p.Ser125Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.S125F	ENST00000247219.5	37	c.374	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	G	4.347	0.063787	0.08388	.	.	ENSG00000182521	ENST00000247219	T	0.47177	0.85	4.67	1.61	0.23674	.	1.260180	0.04859	N	0.443823	T	0.24353	0.0590	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21109	-1.0255	10	0.56958	D	0.05	-0.4006	3.0459	0.06153	0.0:0.434:0.2588:0.3072	.	125	Q6SJ96	TBPL2_HUMAN	F	125	ENSP00000247219:S125F	ENSP00000247219:S125F	S	-	2	0	TBPL2	54973266	0.000000	0.05858	0.018000	0.16275	0.106000	0.19336	0.103000	0.15292	0.583000	0.29574	-0.344000	0.07964	TCT	TBPL2	-	NULL	ENSG00000182521		0.453	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	398	0.00	0	G	NM_199047		55903513	55903513	-1	no_errors	ENST00000247219	ensembl	human	known	69_37n	missense	281	10.19	32	SNP	0.248	A
TBX22	50945	genome.wustl.edu	37	X	79277898	79277898	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:79277898G>A	ENST00000373294.5	+	1	158	c.130G>A	c.(130-132)Gag>Aag	p.E44K	TBX22_ENST00000373296.3_Missense_Mutation_p.E44K|TBX22_ENST00000373291.1_5'Flank|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000476373.1_3'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	44					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CGGAGAGGAAGAGGAGGAGAG	0.592																																						dbGAP											0													64.0	50.0	55.0					X																	79277898		2201	4297	6498	-	-	-	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.130G>A	X.37:g.79277898G>A	ENSP00000362390:p.Glu44Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.E44K	ENST00000373294.5	37	c.130	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051900	0.08291	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.86694	-2.16;-2.16	4.62	2.64	0.31445	.	0.864796	0.09823	N	0.751278	T	0.78291	0.4260	L	0.44542	1.39	0.22127	N	0.999347	B	0.02656	0.0	B	0.04013	0.001	T	0.58370	-0.7648	10	0.08381	T	0.77	.	4.5949	0.12325	0.2296:0.1918:0.5786:0.0	.	44	Q9Y458	TBX22_HUMAN	K	44	ENSP00000362393:E44K;ENSP00000362390:E44K	ENSP00000362390:E44K	E	+	1	0	TBX22	79164554	0.855000	0.29742	0.252000	0.24328	0.605000	0.37080	1.657000	0.37366	0.173000	0.19788	0.600000	0.82982	GAG	TBX22	-	NULL	ENSG00000122145		0.592	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	292	0.00	0	G	NM_016954		79277898	79277898	+1	no_errors	ENST00000373294	ensembl	human	known	69_37n	missense	165	22.43	48	SNP	0.078	A
TBX3	6926	genome.wustl.edu	37	12	115109720	115109720	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:115109720C>T	ENST00000257566.3	-	8	2547	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	TBX3_ENST00000349155.2_Missense_Mutation_p.E700K	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	720					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCTGCAGTTCGCTGGTGGCC	0.627																																						dbGAP											0													19.0	15.0	17.0					12																	115109720		2201	4291	6492	-	-	-	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2158G>A	12.37:g.115109720C>T	ENSP00000257566:p.Glu720Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E720K	ENST00000257566.3	37	c.2158	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.440335	0.96168	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.94046	-3.34;-3.18	4.92	4.92	0.64577	.	1.698470	0.03557	N	0.226468	D	0.97365	0.9138	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.972	D	0.90128	0.4204	10	0.87932	D	0	.	17.1152	0.86687	0.0:1.0:0.0:0.0	.	700;720	O15119-2;O15119	.;TBX3_HUMAN	K	700;720;577	ENSP00000257567:E700K;ENSP00000257566:E720K	ENSP00000257566:E720K	E	-	1	0	TBX3	113594103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.247000	0.78257	2.282000	0.76494	0.563000	0.77884	GAA	TBX3	-	NULL	ENSG00000135111		0.627	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	28	0.00	0	C	NM_016569, NM_005996		115109720	115109720	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	missense	7	58.82	10	SNP	1.000	T
TBX5	6910	genome.wustl.edu	37	12	114823290	114823290	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:114823290C>A	ENST00000310346.4	-	7	1412	c.746G>T	c.(745-747)aGa>aTa	p.R249I	TBX5_ENST00000526441.1_Missense_Mutation_p.R249I|TBX5_ENST00000349716.5_Missense_Mutation_p.R199I|TBX5_ENST00000405440.2_Missense_Mutation_p.R249I	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	249					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCTTTGCATTCTTGACATTCT	0.478																																					NSCLC(152;1358 1980 4050 23898 40356)	dbGAP											0													170.0	139.0	149.0					12																	114823290		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.746G>T	12.37:g.114823290C>A	ENSP00000309913:p.Arg249Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.R249I	ENST00000310346.4	37	c.746	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035685	0.93630	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.27	5.27	0.74061	.	0.108119	0.64402	D	0.000002	D	0.90611	0.7056	M	0.77103	2.36	0.80722	D	1	D;D	0.63880	0.993;0.988	D;P	0.68192	0.956;0.758	D	0.88746	0.3247	10	0.28530	T	0.3	.	18.8883	0.92388	0.0:1.0:0.0:0.0	.	249;249	Q99593-2;Q99593	.;TBX5_HUMAN	I	199;249;146;249;249	ENSP00000337723:R199I;ENSP00000309913:R249I;ENSP00000384152:R249I;ENSP00000433292:R249I	ENSP00000309913:R249I	R	-	2	0	TBX5	113307673	1.000000	0.71417	0.968000	0.41197	0.997000	0.91878	7.400000	0.79949	2.472000	0.83506	0.563000	0.77884	AGA	TBX5	-	NULL	ENSG00000089225		0.478	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	345	0.00	0	C	NM_080717		114823290	114823290	-1	no_errors	ENST00000310346	ensembl	human	known	69_37n	missense	323	10.03	36	SNP	1.000	A
TBX3	6926	genome.wustl.edu	37	12	115117319	115117319	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:115117319C>T	ENST00000257566.3	-	4	1244	c.855G>A	c.(853-855)caG>caA	p.Q285Q	TBX3_ENST00000349155.2_Silent_p.Q265Q	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	285					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCTTATCATTCTGGTATGCAG	0.398																																						dbGAP											0													132.0	123.0	126.0					12																	115117319		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.855G>A	12.37:g.115117319C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB20|Q9UKF8	Silent	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Q285	ENST00000257566.3	37	c.855	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000135111		0.398	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	192	0.00	0	C	NM_016569, NM_005996		115117319	115117319	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	silent	127	21.60	35	SNP	1.000	T
TCAIM	285343	genome.wustl.edu	37	3	44408983	44408983	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44408983G>A	ENST00000342649.4	+	5	782	c.355G>A	c.(355-357)Gat>Aat	p.D119N	TCAIM_ENST00000417237.1_Missense_Mutation_p.D119N	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	119						mitochondrion (GO:0005739)											GCACACCAGAGATCTGCTAAG	0.338																																						dbGAP											0													70.0	73.0	72.0					3																	44408983		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.355G>A	3.37:g.44408983G>A	ENSP00000341539:p.Asp119Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.D119N	ENST00000342649.4	37	c.355	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.618315	0.96649	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.61980	0.06;0.06	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77381	-0.2609	10	0.41790	T	0.15	.	19.8052	0.96529	0.0:0.0:1.0:0.0	.	119	Q8N3R3	CC023_HUMAN	N	119	ENSP00000402581:D119N;ENSP00000341539:D119N	ENSP00000341539:D119N	D	+	1	0	C3orf23	44383987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.692000	0.91855	0.650000	0.86243	GAT	TCAIM	-	NULL	ENSG00000179152		0.338	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	78	0.00	0	G	NM_173826		44408983	44408983	+1	no_errors	ENST00000342649	ensembl	human	known	69_37n	missense	55	21.13	15	SNP	1.000	A
TCEAL2	140597	genome.wustl.edu	37	X	101381908	101381908	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101381908C>A	ENST00000372780.1	+	3	325	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	TCEAL2_ENST00000329035.2_Missense_Mutation_p.L36M	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	36					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L36V(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCTTGTATTCTGGAAGACAA	0.428																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	100.0	102.0					X																	101381908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.106C>A	X.37:g.101381908C>A	ENSP00000361866:p.Leu36Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5C7	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.L36M	ENST00000372780.1	37	c.106	CCDS14496.1	X	.	.	.	.	.	.	.	.	.	.	-	10.84	1.464379	0.26335	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.26067	1.76;1.76	2.52	-0.932	0.10435	.	1.523470	0.04704	N	0.416439	T	0.38931	0.1059	L	0.36672	1.1	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.41928	-0.9481	10	0.45353	T	0.12	.	9.472	0.38849	0.0:0.3656:0.6343:0.0	.	36	Q9H3H9	TCAL2_HUMAN	M	36	ENSP00000361866:L36M;ENSP00000332359:L36M	ENSP00000332359:L36M	L	+	1	2	TCEAL2	101268564	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.118000	0.10692	-0.307000	0.08804	0.523000	0.50628	CTG	TCEAL2	-	NULL	ENSG00000184905		0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	535	0.19	1	C	NM_080390		101381908	101381908	+1	no_errors	ENST00000329035	ensembl	human	known	69_37n	missense	368	11.33	47	SNP	0.000	A
TCEAL6	158931	genome.wustl.edu	37	X	101396101	101396101	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101396101T>G	ENST00000372774.3	-	3	452	c.203A>C	c.(202-204)aAg>aCg	p.K68T	TCEAL6_ENST00000372773.1_Missense_Mutation_p.K68T	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	68	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CTTGCCCTGCTTTTCCTGGCT	0.632																																						dbGAP											0													141.0	121.0	128.0					X																	101396101		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.203A>C	X.37:g.101396101T>G	ENSP00000361860:p.Lys68Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9J8	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.K68T	ENST00000372774.3	37	c.203	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369780	0.42003	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.24538	1.85;1.85	2.44	1.27	0.21489	.	1.556450	0.04176	N	0.325634	T	0.42177	0.1191	M	0.65975	2.015	0.20489	N	0.999897	D	0.63880	0.993	P	0.60886	0.88	T	0.16660	-1.0395	10	0.23891	T	0.37	.	5.2746	0.15643	0.0:0.161:0.0:0.839	.	68	Q6IPX3-2	.	T	68	ENSP00000361860:K68T;ENSP00000361859:K68T	ENSP00000361859:K68T	K	-	2	0	TCEAL6	101282757	0.000000	0.05858	0.040000	0.18447	0.744000	0.42396	-1.603000	0.02077	0.267000	0.21916	0.381000	0.24937	AAG	TCEAL6	-	pfam_TF_A-like/BEX-like	ENSG00000204071		0.632	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	HGNC	protein_coding	OTTHUMT00000057609.1	600	0.00	0	T	NM_001006938		101396101	101396101	-1	no_errors	ENST00000372773	ensembl	human	known	69_37n	missense	225	26.47	81	SNP	0.434	G
TCEANC	170082	genome.wustl.edu	37	X	13680987	13680987	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:13680987G>A	ENST00000380600.1	+	2	447	c.360G>A	c.(358-360)tcG>tcA	p.S120S	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Silent_p.S120S|TCEANC_ENST00000314720.4_Silent_p.S150S|TCEANC_ENST00000544987.1_Silent_p.S120S			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	120					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						TCTGCAGCTCGAATTCTCTGT	0.428																																						dbGAP											0													39.0	36.0	37.0					X																	13680987		1891	4119	6010	-	-	-	SO:0001819	synonymous_variant	0				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.360G>A	X.37:g.13680987G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI06|B2RDM3	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel	p.R42Q	ENST00000380600.1	37	c.125		X																																																																																			TCEANC	-	pirsf_TF_IIS-rel	ENSG00000176896		0.428	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	79	0.00	0	G	NM_152634		13680987	13680987	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467590	ensembl	human	known	69_37n	missense	62	22.50	18	SNP	0.000	A
TCEAL6	158931	genome.wustl.edu	37	X	101396223	101396223	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101396223T>C	ENST00000372774.3	-	3	330	c.81A>G	c.(79-81)gaA>gaG	p.E27E	TCEAL6_ENST00000372773.1_Silent_p.E27E	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	27	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ctgactttccttcatcatcag	0.483																																						dbGAP											0													93.0	79.0	84.0					X																	101396223		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.81A>G	X.37:g.101396223T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9J8	Silent	SNP	pfam_TF_A-like/BEX-like	p.E27	ENST00000372774.3	37	c.81	CCDS43978.1	X																																																																																			TCEAL6	-	pfam_TF_A-like/BEX-like	ENSG00000204071		0.483	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	HGNC	protein_coding	OTTHUMT00000057609.1	1129	0.18	2	T	NM_001006938		101396223	101396223	-1	no_errors	ENST00000372773	ensembl	human	known	69_37n	silent	534	13.45	83	SNP	0.000	C
TCERG1	10915	genome.wustl.edu	37	5	145843320	145843320	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:145843320C>T	ENST00000296702.5	+	5	1137	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	TCERG1_ENST00000394421.2_Missense_Mutation_p.R367C	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	367	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCCGTTTCGTGTTCCCCT	0.468																																						dbGAP											0													219.0	192.0	201.0					5																	145843320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1099C>T	5.37:g.145843320C>T	ENSP00000296702:p.Arg367Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKN2|Q59EA1	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.R367C	ENST00000296702.5	37	c.1099	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877062	0.72180	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.25414	1.82;1.8	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.985;0.988;0.973	T	0.24977	-1.0145	10	0.37606	T	0.19	-3.7833	19.1351	0.93424	0.0:1.0:0.0:0.0	.	367;367;367	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	C	367	ENSP00000296702:R367C;ENSP00000377943:R367C	ENSP00000296702:R367C	R	+	1	0	TCERG1	145823513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.024000	0.57218	2.506000	0.84524	0.563000	0.77884	CGT	TCERG1	-	NULL	ENSG00000113649		0.468	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	320	0.00	0	C	NM_001040006		145843320	145843320	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	missense	285	11.21	36	SNP	1.000	T
TCERG1	10915	genome.wustl.edu	37	5	145882937	145882937	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:145882937G>T	ENST00000296702.5	+	17	2420		c.e17-1		TCERG1_ENST00000394421.2_Splice_Site|TCERG1_ENST00000509787.1_3'UTR	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTAAAATACAGATTAAATCGG	0.333																																						dbGAP											0													58.0	57.0	57.0					5																	145882937		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2383-1G>T	5.37:g.145882937G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKN2|Q59EA1	Splice_Site	SNP	-	e17-1	ENST00000296702.5	37	c.2383-1	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792865	0.70452	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7493	0.91807	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCERG1	145863130	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.238000	0.95380	2.504000	0.84457	0.591000	0.81541	.	TCERG1	-	-	ENSG00000113649		0.333	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	244	0.41	1	G	NM_001040006	Intron	145882937	145882937	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	splice_site	126	28.81	51	SNP	1.000	T
TCERG1L	256536	genome.wustl.edu	37	10	133107447	133107448	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:133107447_133107448insT	ENST00000368642.4	-	2	542_543	c.457_458insA	c.(457-459)agtfs	p.S153fs		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	153	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GTCTATCCAACTTTTCCCAATA	0.465																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.458dupA	10.37:g.133107451_133107451dupT	ENSP00000357631:p.Ser153fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWI2|Q86XM8	Frame_Shift_Ins	INS	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.S153fs	ENST00000368642.4	37	c.458_457	CCDS7662.2	10																																																																																			TCERG1L	-	NULL	ENSG00000176769		0.465	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	151	0.00	0	-	NM_174937		133107447	133107448	-1	no_errors	ENST00000368642	ensembl	human	known	69_37n	frame_shift_ins	81	19.80	20	INS	0.980:0.982	T
TCF23	150921	genome.wustl.edu	37	2	27375569	27375569	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:27375569G>A	ENST00000296096.5	+	3	609	c.479G>A	c.(478-480)cGa>cAa	p.R160Q		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	160					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCCGATGCGATCTCGTCTC	0.557																																						dbGAP											0													88.0	78.0	81.0					2																	27375569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.479G>A	2.37:g.27375569G>A	ENSP00000296096:p.Arg160Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNZ3	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R160Q	ENST00000296096.5	37	c.479	CCDS33163.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766144	0.90020	.	.	ENSG00000163792	ENST00000296096	D	0.98192	-4.78	5.02	4.13	0.48395	.	0.000000	0.64402	D	0.000019	D	0.98532	0.9510	M	0.69823	2.125	0.34983	D	0.754232	D	0.89917	1.0	D	0.74674	0.984	D	0.99970	1.1989	10	0.72032	D	0.01	-10.3514	12.8057	0.57612	0.0:0.0:0.8351:0.1649	.	160	Q7RTU1	TCF23_HUMAN	Q	160	ENSP00000296096:R160Q	ENSP00000296096:R160Q	R	+	2	0	TCF23	27229073	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	6.554000	0.73923	1.219000	0.43474	0.655000	0.94253	CGA	TCF23	-	NULL	ENSG00000163792		0.557	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF23	HGNC	protein_coding	OTTHUMT00000324980.1	97	0.00	0	G	NM_175769		27375569	27375569	+1	no_errors	ENST00000296096	ensembl	human	known	69_37n	missense	65	21.69	18	SNP	0.997	A
TCHH	7062	genome.wustl.edu	37	1	152082362	152082362	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:152082362G>A	ENST00000368804.1	-	2	3330	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1111	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcttcctccCGACATTGCCTC	0.597																																						dbGAP											0													93.0	94.0	94.0					1																	152082362		1970	4146	6116	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3331C>T	1.37:g.152082362G>A	ENSP00000357794:p.Arg1111Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R1111W	ENST00000368804.1	37	c.3331	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.671939	0.14776	.	.	ENSG00000159450	ENST00000368804	T	0.10192	2.9	2.96	0.893	0.19236	.	.	.	.	.	T	0.06917	0.0176	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	P	0.59171	0.853	T	0.24048	-1.0171	9	0.72032	D	0.01	.	9.9339	0.41539	0.0:0.4024:0.5976:0.0	.	1111	Q07283	TRHY_HUMAN	W	1111	ENSP00000357794:R1111W	ENSP00000357794:R1111W	R	-	1	2	TCHH	150348986	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-0.053000	0.11846	-0.006000	0.14370	0.462000	0.41574	CGG	TCHH	-	NULL	ENSG00000159450		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	637	0.31	2	G	NM_007113		152082362	152082362	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	316	14.99	58	SNP	0.001	A
TCL6	27004	genome.wustl.edu	37	14	96130030	96130030	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:96130030C>A	ENST00000467865.1	+	0	438				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GGACTTTAATCTTAAGTGGAC	0.423			T	TRA@	T-ALL																																	dbGAP		Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0																																										-	-	-			0			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96130030C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-	ENSG00000187621		0.423	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	72	0.00	0	C	NM_012468		96130030	96130030	+1	no_errors	ENST00000352367	ensembl	human	known	69_37n	rna	49	14.04	8	SNP	0.020	A
TDRD1	56165	genome.wustl.edu	37	10	115970485	115970485	+	Missense_Mutation	SNP	T	T	G	rs200665050		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115970485T>G	ENST00000369280.1	+	12	1990	c.1530T>G	c.(1528-1530)ttT>ttG	p.F510L	TDRD1_ENST00000422662.1_Missense_Mutation_p.F171L|TDRD1_ENST00000251864.2_Missense_Mutation_p.F510L|TDRD1_ENST00000369282.1_Missense_Mutation_p.F510L|TDRD1_ENST00000369281.2_Missense_Mutation_p.F510L			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	510					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGACTTCTTTTGTCAACAAC	0.373																																						dbGAP											0													104.0	101.0	102.0					10																	115970485		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1530T>G	10.37:g.115970485T>G	ENSP00000358286:p.Phe510Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.F510L	ENST00000369280.1	37	c.1530		10	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598950	0.66332	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	5.64	2.12	0.27331	Maternal tudor protein (1);	0.115064	0.64402	D	0.000011	T	0.25269	0.0614	M	0.68317	2.08	0.33344	D	0.570193	P;D;D;D;D	0.89917	0.712;0.999;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.621;0.997;0.998;0.995;0.999	T	0.21109	-1.0255	10	0.39692	T	0.17	-24.4089	8.1216	0.30974	0.0:0.3598:0.0:0.6402	.	171;510;510;510;510	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	L	510;510;510;171;510	ENSP00000358288:F510L;ENSP00000251864:F510L;ENSP00000358287:F510L;ENSP00000402794:F171L;ENSP00000358286:F510L	ENSP00000251864:F510L	F	+	3	2	TDRD1	115960475	0.994000	0.37717	1.000000	0.80357	0.985000	0.73830	0.168000	0.16622	0.426000	0.26116	0.460000	0.39030	TTT	TDRD1	-	pfam_Tudor	ENSG00000095627		0.373	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	292	0.00	0	T			115970485	115970485	+1	no_errors	ENST00000251864	ensembl	human	known	69_37n	missense	183	12.44	26	SNP	1.000	G
TDRD1	56165	genome.wustl.edu	37	10	115978191	115978191	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:115978191G>A	ENST00000369280.1	+	18	2802	c.2342G>A	c.(2341-2343)cGt>cAt	p.R781H	TDRD1_ENST00000422662.1_Missense_Mutation_p.R385H|TDRD1_ENST00000251864.2_Missense_Mutation_p.R781H|TDRD1_ENST00000369282.1_Missense_Mutation_p.R781H|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	781	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGTTGGTATCGTGCTTTAGTC	0.368																																						dbGAP											0													212.0	193.0	199.0					10																	115978191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2342G>A	10.37:g.115978191G>A	ENSP00000358286:p.Arg781His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.R781H	ENST00000369280.1	37	c.2342		10	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635477	0.87760	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000422662;ENST00000369280	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.93	5.02	0.67125	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	H	0.94423	3.535	0.54753	D	0.999986	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.95;0.917	D	0.94934	0.8085	10	0.87932	D	0	-18.0005	13.8454	0.63463	0.0718:0.0:0.9282:0.0	.	385;781;781	Q9BXT4-4;Q9BXT4;Q9BXT4-3	.;TDRD1_HUMAN;.	H	781;781;385;781	ENSP00000358288:R781H;ENSP00000251864:R781H;ENSP00000402794:R385H;ENSP00000358286:R781H	ENSP00000251864:R781H	R	+	2	0	TDRD1	115968181	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	8.756000	0.91651	2.814000	0.96858	0.655000	0.94253	CGT	TDRD1	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000095627		0.368	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	233	0.00	0	G			115978191	115978191	+1	no_errors	ENST00000251864	ensembl	human	known	69_37n	missense	175	11.11	22	SNP	1.000	A
TDRD5	163589	genome.wustl.edu	37	1	179599943	179599943	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:179599943C>A	ENST00000367614.1	+	7	1373	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	TDRD5_ENST00000444136.1_Missense_Mutation_p.F338L|TDRD5_ENST00000294848.8_Missense_Mutation_p.F338L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	338	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATTAGGCTTCTTAAATGTGA	0.338																																						dbGAP											0													101.0	97.0	99.0					1																	179599943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1014C>A	1.37:g.179599943C>A	ENSP00000356586:p.Phe338Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.F338L	ENST00000367614.1	37	c.1014	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507147	0.64410	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.55588	0.51;0.51;0.51	5.25	1.26	0.21427	.	0.581280	0.17342	N	0.177728	T	0.65144	0.2663	M	0.66939	2.045	0.40288	D	0.97847	D;D	0.76494	0.999;0.999	D;D	0.85130	0.996;0.997	T	0.62492	-0.6843	10	0.48119	T	0.1	-0.2193	7.998	0.30280	0.0:0.5685:0.0:0.4315	.	338;338	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	L	338	ENSP00000356586:F338L;ENSP00000294848:F338L;ENSP00000406052:F338L	ENSP00000294848:F338L	F	+	3	2	TDRD5	177866566	0.995000	0.38212	1.000000	0.80357	0.908000	0.53690	0.112000	0.15479	0.315000	0.23110	-0.145000	0.13849	TTC	TDRD5	-	NULL	ENSG00000162782		0.338	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	294	0.00	0	C	NM_173533		179599943	179599943	+1	no_errors	ENST00000444136	ensembl	human	known	69_37n	missense	211	10.59	25	SNP	0.997	A
TDRD6	221400	genome.wustl.edu	37	6	46659650	46659650	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46659650C>T	ENST00000316081.6	+	1	3785	c.3785C>T	c.(3784-3786)tCt>tTt	p.S1262F	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1262F	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1262					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAATTTCTGCTGAGACA	0.338																																						dbGAP											0													40.0	47.0	44.0					6																	46659650		2194	4295	6489	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3785C>T	6.37:g.46659650C>T	ENSP00000346065:p.Ser1262Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.S1262F	ENST00000316081.6	37	c.3785	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.886845	0.00061	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14266	2.52;2.52	5.59	-2.77	0.05877	.	1.146050	0.06362	N	0.711951	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47169	-0.9138	10	0.09338	T	0.73	0.7837	10.21	0.43134	0.0:0.6069:0.1274:0.2658	.	1262;1262	F5H5M3;O60522	.;TDRD6_HUMAN	F	1262	ENSP00000443299:S1262F;ENSP00000346065:S1262F	ENSP00000346065:S1262F	S	+	2	0	TDRD6	46767609	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.838000	0.04372	-0.620000	0.05641	-2.443000	0.00211	TCT	TDRD6	-	NULL	ENSG00000180113		0.338	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	40	0.00	0	C	XM_166443		46659650	46659650	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	0.000	T
TDRD6	221400	genome.wustl.edu	37	6	46660805	46660805	+	Missense_Mutation	SNP	C	C	A	rs566706416	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:46660805C>A	ENST00000316081.6	+	1	4940	c.4940C>A	c.(4939-4941)tCt>tAt	p.S1647Y	TDRD6_ENST00000544460.1_Missense_Mutation_p.S1647Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1647					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATTATGTTCTCAAGAGGGA	0.393																																						dbGAP											0													75.0	78.0	77.0					6																	46660805		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4940C>A	6.37:g.46660805C>A	ENSP00000346065:p.Ser1647Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.S1647Y	ENST00000316081.6	37	c.4940	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237898	0.39598	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.17370	2.28;2.3	5.88	5.01	0.66863	.	0.553031	0.19170	N	0.120945	T	0.09113	0.0225	L	0.38175	1.15	0.09310	N	1	D;D	0.57571	0.975;0.98	P;P	0.51193	0.662;0.547	T	0.13818	-1.0495	10	0.66056	D	0.02	-10.9422	5.9786	0.19395	0.1414:0.6461:0.1367:0.0758	.	1647;1647	F5H5M3;O60522	.;TDRD6_HUMAN	Y	1647	ENSP00000443299:S1647Y;ENSP00000346065:S1647Y	ENSP00000346065:S1647Y	S	+	2	0	TDRD6	46768764	0.256000	0.24012	0.996000	0.52242	0.554000	0.35429	1.359000	0.34113	1.475000	0.48197	0.655000	0.94253	TCT	TDRD6	-	NULL	ENSG00000180113		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	163	0.00	0	C	XM_166443		46660805	46660805	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	0.021	A
TDRD9	122402	genome.wustl.edu	37	14	104452641	104452641	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:104452641G>T	ENST00000409874.4	+	8	1147	c.1099G>T	c.(1099-1101)Gat>Tat	p.D367Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.D367Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	367					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGATGACTTGGATATGAAGGA	0.348																																						dbGAP											0													112.0	103.0	106.0					14																	104452641		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1099G>T	14.37:g.104452641G>T	ENSP00000387303:p.Asp367Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D367Y	ENST00000409874.4	37	c.1099	CCDS9987.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.240959|4.240959	0.79912|0.79912	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.02579|.	4.24;4.24|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.170731|.	0.38381|.	N|.	0.001710|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.66939|0.66939	2.045|2.045	0.53005|0.53005	D|D	0.999964|0.999964	D;D|.	0.61080|.	0.989;0.972|.	P;P|.	0.59643|.	0.861;0.707|.	T|T	0.71817|0.71817	-0.4478|-0.4478	10|5	0.72032|.	D|.	0.01|.	.|.	16.7779|16.7779	0.85556|0.85556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	367;367|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	Y|V	367|93	ENSP00000387303:D367Y;ENSP00000343545:D367Y|.	ENSP00000343545:D367Y|.	D|G	+|+	1|2	0|0	TDRD9|TDRD9	103522394|103522394	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.983000|0.983000	0.72400|0.72400	6.810000|6.810000	0.75216|0.75216	2.694000|2.694000	0.91930|0.91930	0.650000|0.650000	0.86243|0.86243	GAT|GGA	TDRD9	-	NULL	ENSG00000156414		0.348	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	409	0.00	0	G	NM_153046		104452641	104452641	+1	no_errors	ENST00000409874	ensembl	human	known	69_37n	missense	354	25.47	121	SNP	1.000	T
TDRKH	11022	genome.wustl.edu	37	1	151753992	151753992	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151753992G>A	ENST00000368822.1	-	3	829	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	TDRKH_ENST00000458431.2_Missense_Mutation_p.L66F|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.L66F|TDRKH_ENST00000368824.3_Missense_Mutation_p.L66F|TDRKH_ENST00000368827.6_Missense_Mutation_p.L66F|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.L66F			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	66	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAATGATGAGTTTCACAGCC	0.453																																						dbGAP											0													131.0	130.0	130.0					1																	151753992		1911	4134	6045	-	-	-	SO:0001583	missense	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.196C>T	1.37:g.151753992G>A	ENSP00000357812:p.Leu66Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.L66F	ENST00000368822.1	37	c.196	CCDS41394.1	1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610758	0.46527	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000526378	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	6.06	3.21	0.36854	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.755927	0.12746	N	0.442604	T	0.07052	0.0179	N	0.12422	0.21	0.80722	D	1	B;B;B	0.29162	0.235;0.001;0.001	B;B;B	0.32465	0.146;0.009;0.004	T	0.23583	-1.0184	10	0.13853	T	0.58	-2.5555	10.6936	0.45886	0.1884:0.0:0.8116:0.0	.	66;66;66	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	F	66	ENSP00000357819:L66F;ENSP00000357817:L66F;ENSP00000357815:L66F;ENSP00000357813:L66F;ENSP00000357812:L66F;ENSP00000395718:L66F;ENSP00000431557:L66F	ENSP00000357812:L66F	L	-	1	0	TDRKH	150020616	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.561000	0.23515	0.458000	0.26988	0.655000	0.94253	CTC	TDRKH	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000182134		0.453	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2	199	0.00	0	G	NM_006862		151753992	151753992	-1	no_errors	ENST00000368822	ensembl	human	known	69_37n	missense	141	13.94	23	SNP	1.000	A
TECTA	7007	genome.wustl.edu	37	11	120998994	120998994	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:120998994C>T	ENST00000392793.1	+	9	2579	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TECTA_ENST00000264037.2_Missense_Mutation_p.R770W			O75443	TECTA_HUMAN	tectorin alpha	770	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGGGGACTTCGGATCCTGGT	0.587																																						dbGAP											0													44.0	53.0	50.0					11																	120998994		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2308C>T	11.37:g.120998994C>T	ENSP00000376543:p.Arg770Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.R770W	ENST00000392793.1	37	c.2308	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331417	0.41297	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60171	0.21;0.21	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.214424	0.42053	D	0.000761	T	0.69196	0.3084	L	0.50333	1.59	0.38339	D	0.94401	D	0.89917	1.0	D	0.74348	0.983	T	0.71041	-0.4707	10	0.46703	T	0.11	.	13.2662	0.60135	0.2772:0.7228:0.0:0.0	.	770	O75443	TECTA_HUMAN	W	770	ENSP00000376543:R770W;ENSP00000264037:R770W	ENSP00000264037:R770W	R	+	1	2	TECTA	120504204	0.999000	0.42202	0.953000	0.39169	0.157000	0.22087	1.644000	0.37228	2.671000	0.90904	0.655000	0.94253	CGG	TECTA	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000109927		0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	56	0.00	0	C	NM_005422		120998994	120998994	+1	no_errors	ENST00000264037	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.957	T
TEK	7010	genome.wustl.edu	37	9	27190671	27190671	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:27190671C>T	ENST00000380036.4	+	10	1914	c.1472C>T	c.(1471-1473)gCt>gTt	p.A491V	TEK_ENST00000519097.1_Missense_Mutation_p.A344V|TEK_ENST00000406359.4_Missense_Mutation_p.A448V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	491	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CACTATGAGGCTTGGCAACAT	0.428																																						dbGAP											0													97.0	98.0	98.0					9																	27190671		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1472C>T	9.37:g.27190671C>T	ENSP00000369375:p.Ala491Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A491V	ENST00000380036.4	37	c.1472	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531847	0.27387	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000346448;ENST00000406359;ENST00000519080	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.51	3.63	0.41609	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.491983	0.17019	N	0.190191	T	0.30355	0.0762	N	0.17082	0.46	0.26198	N	0.979496	B;B;B;B	0.24317	0.042;0.057;0.0;0.101	B;B;B;B	0.28916	0.067;0.026;0.003;0.096	T	0.20240	-1.0281	10	0.34782	T	0.22	.	6.8182	0.23843	0.0:0.6999:0.1458:0.1543	.	344;524;448;491	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	V	344;491;448;448;301	ENSP00000430686:A344V;ENSP00000369375:A491V;ENSP00000383977:A448V;ENSP00000428337:A301V	ENSP00000343716:A448V	A	+	2	0	TEK	27180671	0.952000	0.32445	0.968000	0.41197	0.709000	0.40893	1.487000	0.35540	0.666000	0.31087	0.591000	0.81541	GCT	TEK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120156		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	249	0.00	0	C			27190671	27190671	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	missense	159	23.56	49	SNP	0.925	T
TEK	7010	genome.wustl.edu	37	9	27202846	27202846	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:27202846G>T	ENST00000380036.4	+	13	2380	c.1938G>T	c.(1936-1938)aaG>aaT	p.K646N	TEK_ENST00000519097.1_Missense_Mutation_p.K499N|TEK_ENST00000406359.4_Missense_Mutation_p.K603N	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	646	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K646N(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAAACATCAAGATTTCCAACA	0.343																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											137.0	137.0	137.0					9																	27202846		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1938G>T	9.37:g.27202846G>T	ENSP00000369375:p.Lys646Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K646N	ENST00000380036.4	37	c.1938	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185655	0.38609	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.58797	0.31;0.31;0.31;2.8	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000051	T	0.41971	0.1182	N	0.14661	0.345	0.35833	D	0.825438	B;B;B;B	0.24651	0.014;0.009;0.108;0.026	B;B;B;B	0.25291	0.032;0.033;0.059;0.022	T	0.47433	-0.9118	10	0.31617	T	0.26	.	14.834	0.70169	0.0:0.0:0.8562:0.1438	.	499;679;603;646	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	N	499;646;603;456	ENSP00000430686:K499N;ENSP00000369375:K646N;ENSP00000383977:K603N;ENSP00000428337:K456N	ENSP00000369375:K646N	K	+	3	2	TEK	27192846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.865000	0.48412	2.737000	0.93849	0.643000	0.83706	AAG	TEK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120156		0.343	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	413	0.24	1	G			27202846	27202846	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	missense	332	13.54	52	SNP	1.000	T
TEK	7010	genome.wustl.edu	37	9	27209184	27209184	+	Missense_Mutation	SNP	C	C	T	rs201842573		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:27209184C>T	ENST00000380036.4	+	16	3083	c.2641C>T	c.(2641-2643)Cac>Tac	p.H881Y	TEK_ENST00000519097.1_Missense_Mutation_p.H733Y|TEK_ENST00000406359.4_Missense_Mutation_p.H838Y	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	881	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TAAACTTGGACACCATCCAAA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		18795	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													142.0	115.0	124.0					9																	27209184		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2641C>T	9.37:g.27209184C>T	ENSP00000369375:p.His881Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H881Y	ENST00000380036.4	37	c.2641	CCDS6519.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.93	3.258001	0.59321	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69806	-0.43;-0.43;-0.43	5.87	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000083	T	0.55465	0.1922	N	0.16903	0.455	0.48341	D	0.999633	P;B;P;P	0.37985	0.613;0.116;0.523;0.613	B;B;B;B	0.41174	0.349;0.094;0.266;0.349	T	0.61158	-0.7119	10	0.62326	D	0.03	.	13.8754	0.63648	0.2779:0.7221:0.0:0.0	.	733;914;838;881	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	Y	733;881;838	ENSP00000430686:H733Y;ENSP00000369375:H881Y;ENSP00000383977:H838Y	ENSP00000369375:H881Y	H	+	1	0	TEK	27199184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.849000	0.62882	1.449000	0.47699	0.643000	0.83706	CAC	TEK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000120156		0.403	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	209	0.00	0	C			27209184	27209184	+1	no_errors	ENST00000380036	ensembl	human	known	69_37n	missense	201	18.62	46	SNP	1.000	T
TELO2	9894	genome.wustl.edu	37	16	1557316	1557316	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:1557316G>A	ENST00000262319.6	+	19	2515	c.2236G>A	c.(2236-2238)Gcc>Acc	p.A746T		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	746					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGTGGCTGTGGCCATGGGCAA	0.682																																						dbGAP											0													56.0	56.0	56.0					16																	1557316		2199	4300	6499	-	-	-	SO:0001583	missense	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2236G>A	16.37:g.1557316G>A	ENSP00000262319:p.Ala746Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.A746T	ENST00000262319.6	37	c.2236	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	G	3.083	-0.188539	0.06299	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.15487	2.42	4.62	-9.24	0.00669	.	0.887942	0.10160	N	0.708434	T	0.08088	0.0202	L	0.41573	1.285	0.09310	N	0.999999	B	0.23316	0.083	B	0.15052	0.012	T	0.22103	-1.0226	10	0.13853	T	0.58	-2.9259	4.2424	0.10654	0.0768:0.1904:0.3273:0.4055	.	746	Q9Y4R8	TELO2_HUMAN	T	269;746	ENSP00000262319:A746T	ENSP00000262319:A746T	A	+	1	0	TELO2	1497317	0.003000	0.15002	0.034000	0.17996	0.941000	0.58515	-0.672000	0.05244	-2.618000	0.00441	-0.502000	0.04539	GCC	TELO2	-	superfamily_ARM-type_fold	ENSG00000100726		0.682	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	22	0.00	0	G	NM_016111		1557316	1557316	+1	no_errors	ENST00000262319	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.050	A
TEKT5	146279	genome.wustl.edu	37	16	10721434	10721434	+	3'UTR	SNP	C	C	T	rs571308426		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:10721434C>T	ENST00000283025.2	-	0	1535				TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5							cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCAGGGCGGTGCTCAGG	0.527																																						dbGAP											0													50.0	53.0	52.0					16																	10721434		2197	4300	6497	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.*6G>A	16.37:g.10721434C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z3	RNA	SNP	-	NULL	ENST00000283025.2	37	NULL	CCDS10542.1	16																																																																																			TEKT5	-	-	ENSG00000153060		0.527	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	40	0.00	0	C	NM_144674		10721434	10721434	-1	no_errors	ENST00000574923	ensembl	human	known	69_37n	rna	36	20.00	9	SNP	0.000	T
TESK2	10420	genome.wustl.edu	37	1	45887426	45887426	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:45887426C>A	ENST00000372086.3	-	3	715	c.315G>T	c.(313-315)atG>atT	p.M105I	TESK2_ENST00000341771.6_Missense_Mutation_p.M105I|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Missense_Mutation_p.M105I|TESK2_ENST00000372084.1_Missense_Mutation_p.M105I|TESK2_ENST00000538496.1_Missense_Mutation_p.M22I	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGAGTCTATTCATGAGCTGTA	0.433																																						dbGAP											0													270.0	250.0	256.0					1																	45887426		1922	4131	6053	-	-	-	SO:0001583	missense	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.315G>T	1.37:g.45887426C>A	ENSP00000361158:p.Met105Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M105I	ENST00000372086.3	37	c.315	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780864	0.90195	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496;ENST00000451835	D;D;D;D;T	0.89617	-2.54;-2.03;-2.54;-2.03;3.25	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	L	0.49640	1.575	0.58432	D	0.999998	B;P;D	0.63880	0.437;0.851;0.993	P;P;D	0.69307	0.45;0.623;0.963	D	0.92916	0.6351	10	0.62326	D	0.03	-23.3984	18.1306	0.89600	0.0:1.0:0.0:0.0	.	105;105;105	B4DRH9;Q96S53-3;Q96S53	.;.;TESK2_HUMAN	I	105;105;105;105;22;105	ENSP00000361156:M105I;ENSP00000361158:M105I;ENSP00000343940:M105I;ENSP00000441746:M22I;ENSP00000397244:M105I	ENSP00000343940:M105I	M	-	3	0	TESK2	45660013	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.652000	0.90054	0.561000	0.74099	ATG	TESK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070759		0.433	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	373	0.00	0	C	NM_007170		45887426	45887426	-1	no_errors	ENST00000372086	ensembl	human	known	69_37n	missense	224	13.51	35	SNP	1.000	A
TESPA1	9840	genome.wustl.edu	37	12	55356665	55356665	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:55356665G>T	ENST00000449076.1	-	9	1149	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L	TESPA1_ENST00000532804.1_Missense_Mutation_p.F201L|TESPA1_ENST00000316577.8_Missense_Mutation_p.F339L|TESPA1_ENST00000531122.1_Missense_Mutation_p.F201L|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.F201L	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	339					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTTCCTGTGAGAATTGCCCCA	0.493																																						dbGAP											0													57.0	60.0	59.0					12																	55356665		1945	4149	6094	-	-	-	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1017C>A	12.37:g.55356665G>T	ENSP00000400892:p.Phe339Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.F339L	ENST00000449076.1	37	c.1017	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534365	0.27475	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.43	1.65	0.23941	.	0.894287	0.09766	N	0.758617	T	0.41351	0.1155	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.24941	-1.0146	10	0.34782	T	0.22	-8.1749	6.2544	0.20865	0.3072:0.0:0.6928:0.0	.	339	A2RU30	K0748_HUMAN	L	201;201;339;339;201	ENSP00000435622:F201L;ENSP00000432030:F201L;ENSP00000400892:F339L;ENSP00000312679:F339L;ENSP00000433098:F201L	ENSP00000312679:F339L	F	-	3	2	KIAA0748	53642932	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.125000	0.10579	0.385000	0.24970	0.655000	0.94253	TTC	TESPA1	-	NULL	ENSG00000135426		0.493	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	271	0.00	0	G	NM_001098815		55356665	55356665	-1	no_errors	ENST00000316577	ensembl	human	known	69_37n	missense	164	16.33	32	SNP	0.007	T
TET1	80312	genome.wustl.edu	37	10	70332649	70332649	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70332649G>A	ENST00000373644.4	+	2	763	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	185					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGGTAAGAGCCAAGAGACA	0.458																																						dbGAP											0													66.0	67.0	66.0					10																	70332649		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.554G>A	10.37:g.70332649G>A	ENSP00000362748:p.Ser185Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S185N	ENST00000373644.4	37	c.554	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694229	0.30052	.	.	ENSG00000138336	ENST00000373644	T	0.07908	3.15	5.24	4.33	0.51752	.	1.237970	0.05685	N	0.591129	T	0.09598	0.0236	N	0.24115	0.695	0.26491	N	0.974945	P	0.46987	0.888	P	0.44732	0.459	T	0.22730	-1.0208	10	0.41790	T	0.15	.	10.6061	0.45394	0.0887:0.0:0.9113:0.0	.	185	Q8NFU7	TET1_HUMAN	N	185	ENSP00000362748:S185N	ENSP00000362748:S185N	S	+	2	0	TET1	70002655	0.973000	0.33851	0.996000	0.52242	0.586000	0.36452	1.916000	0.39986	2.444000	0.82710	0.563000	0.77884	AGC	TET1	-	NULL	ENSG00000138336		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	49	0.00	0	G	NM_030625		70332649	70332649	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	0.985	A
TET1	80312	genome.wustl.edu	37	10	70333079	70333079	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70333079A>C	ENST00000373644.4	+	2	1193	c.984A>C	c.(982-984)aaA>aaC	p.K328N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	328					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGTAATAAAATTCCTCTTGG	0.453																																						dbGAP											0													100.0	108.0	105.0					10																	70333079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.984A>C	10.37:g.70333079A>C	ENSP00000362748:p.Lys328Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.K328N	ENST00000373644.4	37	c.984	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609716	0.46527	.	.	ENSG00000138336	ENST00000373644	T	0.08807	3.05	5.65	0.00648	0.14067	.	0.731043	0.12266	N	0.484318	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.45891	-0.9230	10	0.20046	T	0.44	.	5.1647	0.15079	0.6228:0.0:0.2413:0.1359	.	328	Q8NFU7	TET1_HUMAN	N	328	ENSP00000362748:K328N	ENSP00000362748:K328N	K	+	3	2	TET1	70003085	0.023000	0.18921	0.990000	0.47175	0.981000	0.71138	0.367000	0.20382	0.108000	0.17862	0.460000	0.39030	AAA	TET1	-	NULL	ENSG00000138336		0.453	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	71	0.00	0	A	NM_030625		70333079	70333079	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	missense	41	32.26	20	SNP	0.097	C
TET1	80312	genome.wustl.edu	37	10	70333547	70333547	+	Missense_Mutation	SNP	G	G	T	rs538486517		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70333547G>T	ENST00000373644.4	+	2	1661	c.1452G>T	c.(1450-1452)gaG>gaT	p.E484D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	484					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAAACTCAGAGAAAAATTCAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		22361	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													48.0	45.0	46.0					10																	70333547		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1452G>T	10.37:g.70333547G>T	ENSP00000362748:p.Glu484Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.E484D	ENST00000373644.4	37	c.1452	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533934	0.45073	.	.	ENSG00000138336	ENST00000373644	T	0.08807	3.05	4.66	4.66	0.58398	.	0.660533	0.12940	N	0.426663	T	0.07143	0.0181	L	0.29908	0.895	0.24922	N	0.99197	P	0.37015	0.578	B	0.38712	0.28	T	0.25537	-1.0129	10	0.39692	T	0.17	.	5.9122	0.19035	0.0961:0.0:0.7131:0.1908	.	484	Q8NFU7	TET1_HUMAN	D	484	ENSP00000362748:E484D	ENSP00000362748:E484D	E	+	3	2	TET1	70003553	0.992000	0.36948	0.776000	0.31678	0.837000	0.47467	2.007000	0.40883	2.421000	0.82119	0.305000	0.20034	GAG	TET1	-	NULL	ENSG00000138336		0.443	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	56	0.00	0	G	NM_030625		70333547	70333547	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.682	T
TET1	80312	genome.wustl.edu	37	10	70405080	70405080	+	Missense_Mutation	SNP	A	A	C	rs201626139		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:70405080A>C	ENST00000373644.4	+	4	2803	c.2594A>C	c.(2593-2595)aAa>aCa	p.K865T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	865					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATACCAAGTAAAGAACCAAAA	0.398																																						dbGAP											0													109.0	108.0	108.0					10																	70405080		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2594A>C	10.37:g.70405080A>C	ENSP00000362748:p.Lys865Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.K865T	ENST00000373644.4	37	c.2594	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	A	4.532	0.098733	0.08681	.	.	ENSG00000138336	ENST00000373644	T	0.07908	3.15	5.88	0.845	0.18950	.	1.535800	0.03636	N	0.238677	T	0.04998	0.0134	N	0.24115	0.695	0.09310	N	1	B	0.26195	0.144	B	0.14023	0.01	T	0.36311	-0.9753	10	0.13853	T	0.58	.	1.3881	0.02244	0.3503:0.2526:0.2736:0.1235	.	865	Q8NFU7	TET1_HUMAN	T	865	ENSP00000362748:K865T	ENSP00000362748:K865T	K	+	2	0	TET1	70075086	0.384000	0.25164	0.384000	0.26145	0.132000	0.20833	0.721000	0.25911	0.155000	0.19261	0.524000	0.50904	AAA	TET1	-	NULL	ENSG00000138336		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	208	0.00	0	A	NM_030625		70405080	70405080	+1	no_errors	ENST00000373644	ensembl	human	known	69_37n	missense	132	21.43	36	SNP	0.008	C
TEX15	56154	genome.wustl.edu	37	8	30694993	30694993	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30694993G>A	ENST00000256246.2	-	3	7732	c.7658C>T	c.(7657-7659)tCt>tTt	p.S2553F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2553					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S2553F(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGGTTCTGGAGAAGTCATGCA	0.353																																						dbGAP											1	Substitution - Missense(1)	lung(1)											74.0	76.0	75.0					8																	30694993		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7658C>T	8.37:g.30694993G>A	ENSP00000256246:p.Ser2553Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S2553F	ENST00000256246.2	37	c.7658	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	5.939	0.357207	0.11239	.	.	ENSG00000133863	ENST00000256246	T	0.12147	2.71	5.17	2.42	0.29668	.	0.565592	0.16308	N	0.220107	T	0.10380	0.0254	L	0.29908	0.895	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.25882	-1.0119	10	0.87932	D	0	.	7.3658	0.26772	0.2772:0.0:0.7228:0.0	.	2553	Q9BXT5	TEX15_HUMAN	F	2553	ENSP00000256246:S2553F	ENSP00000256246:S2553F	S	-	2	0	TEX15	30814535	0.789000	0.28775	0.107000	0.21349	0.268000	0.26511	0.955000	0.29188	0.416000	0.25844	0.650000	0.86243	TCT	TEX15	-	NULL	ENSG00000133863		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	140	0.00	0	G			30694993	30694993	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	90	13.46	14	SNP	0.109	A
TEX15	56154	genome.wustl.edu	37	8	30700862	30700862	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30700862G>A	ENST00000256246.2	-	1	5746	c.5672C>T	c.(5671-5673)gCt>gTt	p.A1891V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1891					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTTTTGCAGCATCAAAAAA	0.343																																						dbGAP											0													123.0	121.0	122.0					8																	30700862		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5672C>T	8.37:g.30700862G>A	ENSP00000256246:p.Ala1891Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.A1891V	ENST00000256246.2	37	c.5672	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306029	0.81247	.	.	ENSG00000133863	ENST00000256246	T	0.25579	1.79	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000023	T	0.50103	0.1596	L	0.59436	1.845	0.48975	D	0.999732	D	0.89917	1.0	D	0.79784	0.993	T	0.44711	-0.9310	10	0.87932	D	0	.	18.8857	0.92376	0.0:0.0:1.0:0.0	.	1891	Q9BXT5	TEX15_HUMAN	V	1891	ENSP00000256246:A1891V	ENSP00000256246:A1891V	A	-	2	0	TEX15	30820404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.623000	0.74238	2.765000	0.95021	0.650000	0.86243	GCT	TEX15	-	NULL	ENSG00000133863		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	287	0.69	2	G			30700862	30700862	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	182	18.75	42	SNP	1.000	A
TEX15	56154	genome.wustl.edu	37	8	30702230	30702230	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30702230G>T	ENST00000256246.2	-	1	4378	c.4304C>A	c.(4303-4305)tCt>tAt	p.S1435Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1435					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1435Y(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAAGCAGAGAACTATCACT	0.353																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											78.0	75.0	76.0					8																	30702230		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4304C>A	8.37:g.30702230G>T	ENSP00000256246:p.Ser1435Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S1435Y	ENST00000256246.2	37	c.4304	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187806	0.38609	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.29	1.26	0.21427	.	1.075500	0.07215	N	0.859946	T	0.15435	0.0372	L	0.56769	1.78	0.09310	N	1	B	0.26809	0.16	B	0.29598	0.104	T	0.37957	-0.9683	10	0.87932	D	0	.	4.5607	0.12160	0.2648:0.0:0.584:0.1512	.	1435	Q9BXT5	TEX15_HUMAN	Y	1435	ENSP00000256246:S1435Y	ENSP00000256246:S1435Y	S	-	2	0	TEX15	30821772	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	0.036000	0.13819	0.002000	0.14630	0.650000	0.86243	TCT	TEX15	-	NULL	ENSG00000133863		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	143	0.69	1	G			30702230	30702230	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	112	12.50	16	SNP	0.000	T
TEX15	56154	genome.wustl.edu	37	8	30703537	30703537	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30703537T>C	ENST00000256246.2	-	1	3071	c.2997A>G	c.(2995-2997)aaA>aaG	p.K999K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	999					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAACAACTGCTTTGTCTAGTT	0.343																																						dbGAP											0													111.0	121.0	118.0					8																	30703537		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2997A>G	8.37:g.30703537T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.K999	ENST00000256246.2	37	c.2997	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	130	0.00	0	T			30703537	30703537	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	silent	107	12.30	15	SNP	0.992	C
TEX26	122046	genome.wustl.edu	37	13	31540372	31540372	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:31540372G>T	ENST00000380473.3	+	5	496	c.483G>T	c.(481-483)aaG>aaT	p.K161N	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	161								p.K161N(1)									AGAAGATTAAGAAAAGTTCTC	0.423																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											69.0	68.0	69.0					13																	31540372		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.483G>T	13.37:g.31540372G>T	ENSP00000369840:p.Lys161Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.K161N	ENST00000380473.3	37	c.483	CCDS9339.1	13	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798272	0.50208	.	.	ENSG00000175664	ENST00000380473	T	0.52057	0.68	5.41	2.25	0.28309	.	0.138893	0.48767	D	0.000177	T	0.55513	0.1925	M	0.66939	2.045	0.09310	N	1	D	0.61697	0.99	P	0.59487	0.858	T	0.43032	-0.9416	10	0.52906	T	0.07	-1.9477	5.8159	0.18492	0.3629:0.0:0.6371:0.0	.	161	Q8N6G2	CM026_HUMAN	N	161	ENSP00000369840:K161N	ENSP00000369840:K161N	K	+	3	2	C13orf26	30438372	0.893000	0.30496	0.002000	0.10522	0.047000	0.14425	1.402000	0.34600	0.771000	0.33359	0.650000	0.86243	AAG	TEX26	-	NULL	ENSG00000175664		0.423	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX26	HGNC	protein_coding	OTTHUMT00000044380.2	164	0.00	0	G	NM_152325		31540372	31540372	+1	no_errors	ENST00000380473	ensembl	human	known	69_37n	missense	99	29.29	41	SNP	0.002	T
SPATA32	124783	genome.wustl.edu	37	17	43331853	43331853	+	Missense_Mutation	SNP	C	C	A	rs201644192		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:43331853C>A	ENST00000331780.4	-	5	1190	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.E344D|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	365					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											ATAATGGATTCTCTTTCTCTT	0.527																																						dbGAP											0													117.0	123.0	121.0					17																	43331853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.1095G>T	17.37:g.43331853C>A	ENSP00000331532:p.Glu365Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	NULL	p.E365D	ENST00000331780.4	37	c.1095	CCDS32669.1	17	.	.	.	.	.	.	.	.	.	.	C	5.468	0.271405	0.10349	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.45668	0.89;0.89	4.77	3.81	0.43845	.	0.656349	0.13474	N	0.385190	T	0.21550	0.0519	N	0.08118	0	0.18873	N	0.999983	B	0.22146	0.065	B	0.19391	0.025	T	0.18335	-1.0340	10	0.20046	T	0.44	-7.0414	8.7705	0.34728	0.0:0.8977:0.0:0.1023	.	365	Q96LK8	CQ046_HUMAN	D	365;344	ENSP00000331532:E365D;ENSP00000442724:E344D	ENSP00000331532:E365D	E	-	3	2	C17orf46	40687636	0.957000	0.32711	0.927000	0.36925	0.314000	0.28054	1.952000	0.40343	1.224000	0.43551	-0.192000	0.12808	GAG	TEX34	-	NULL	ENSG00000184361		0.527	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX34	HGNC	protein_coding	OTTHUMT00000450946.1	119	0.00	0	C	NM_152343		43331853	43331853	-1	no_errors	ENST00000331780	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	0.982	A
SPATA32	124783	genome.wustl.edu	37	17	43333075	43333075	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:43333075G>A	ENST00000331780.4	-	4	569	c.474C>T	c.(472-474)ttC>ttT	p.F158F	MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_Silent_p.F137F|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	158					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGTTTGCCCAGAAGAGGTGCT	0.592																																						dbGAP											0													108.0	91.0	97.0					17																	43333075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.474C>T	17.37:g.43333075G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.F158	ENST00000331780.4	37	c.474	CCDS32669.1	17																																																																																			TEX34	-	NULL	ENSG00000184361		0.592	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX34	HGNC	protein_coding	OTTHUMT00000450946.1	80	0.00	0	G	NM_152343		43333075	43333075	-1	no_errors	ENST00000331780	ensembl	human	known	69_37n	silent	63	23.17	19	SNP	1.000	A
TEX9	374618	genome.wustl.edu	37	15	56686976	56686976	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:56686976G>A	ENST00000352903.2	+	9	796	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	TEX9_ENST00000560582.1_Missense_Mutation_p.E14K|TEX9_ENST00000561221.2_Missense_Mutation_p.E258K|TEX9_ENST00000558083.2_Missense_Mutation_p.E183K|TEX9_ENST00000537232.1_Missense_Mutation_p.E183K|RP11-48G14.2_ENST00000564401.1_lincRNA	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	258										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		AACTCTTTTCGAAGAAGCAAA	0.308																																						dbGAP											0													48.0	53.0	52.0					15																	56686976		2192	4282	6474	-	-	-	SO:0001583	missense	0			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.772G>A	15.37:g.56686976G>A	ENSP00000342169:p.Glu258Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH73	Missense_Mutation	SNP	NULL	p.E258K	ENST00000352903.2	37	c.772	CCDS10157.1	15	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379635	0.82682	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	T;T	0.77489	-1.1;-1.1	5.25	5.25	0.73442	.	0.095722	0.64402	D	0.000001	D	0.84257	0.5432	M	0.76574	2.34	0.53688	D	0.999972	D;D	0.63046	0.973;0.992	B;P	0.56648	0.345;0.803	D	0.85005	0.0902	10	0.48119	T	0.1	-27.9631	14.0089	0.64483	0.0:0.1526:0.8474:0.0	.	183;258	B4DH73;Q8N6V9	.;TEX9_HUMAN	K	258;183	ENSP00000342169:E258K;ENSP00000438745:E183K	ENSP00000342169:E258K	E	+	1	0	TEX9	54474268	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.642000	0.67888	2.453000	0.82957	0.591000	0.81541	GAA	TEX9	-	NULL	ENSG00000151575		0.308	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX9	HGNC	protein_coding	OTTHUMT00000255048.2	229	0.00	0	G	NM_198524		56686976	56686976	+1	no_errors	ENST00000352903	ensembl	human	known	69_37n	missense	129	26.70	47	SNP	1.000	A
TFB1M	51106	genome.wustl.edu	37	6	155619688	155619688	+	Missense_Mutation	SNP	C	C	A	rs114130996	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:155619688C>A	ENST00000367166.4	-	3	372	c.317G>T	c.(316-318)aGa>aTa	p.R106I		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		ATGAACAATTCTCAGTTTCCC	0.348																																						dbGAP											0													82.0	81.0	81.0					6																	155619688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.317G>T	6.37:g.155619688C>A	ENSP00000356134:p.Arg106Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DR0|Q9Y384	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N	p.R106I	ENST00000367166.4	37	c.317	CCDS5248.1	6	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567666	0.45798	.	.	ENSG00000029639	ENST00000367166	T	0.30714	1.52	5.65	3.88	0.44766	Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.093475	0.64402	D	0.000002	T	0.13670	0.0331	L	0.52573	1.65	0.58432	D	0.999996	B	0.20368	0.044	B	0.23018	0.043	T	0.03423	-1.1038	10	0.38643	T	0.18	-24.6335	9.675	0.40034	0.0:0.7883:0.0:0.2117	.	106	Q8WVM0	TFB1M_HUMAN	I	106	ENSP00000356134:R106I	ENSP00000356134:R106I	R	-	2	0	TFB1M	155661380	0.639000	0.27234	0.988000	0.46212	0.994000	0.84299	1.423000	0.34837	0.860000	0.35481	0.563000	0.77884	AGA	TFB1M	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N	ENSG00000029639		0.348	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB1M	HGNC	protein_coding	OTTHUMT00000042809.1	202	0.00	0	C			155619688	155619688	-1	no_errors	ENST00000367166	ensembl	human	known	69_37n	missense	108	28.95	44	SNP	1.000	A
TFEC	22797	genome.wustl.edu	37	7	115580655	115580655	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:115580655C>A	ENST00000265440.7	-	8	1174	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	TFEC_ENST00000320239.7_Nonsense_Mutation_p.E303*|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000457268.1_Nonsense_Mutation_p.E265*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	332	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTACTGCTTTCTTTGGAAACT	0.418																																						dbGAP											0													98.0	89.0	92.0					7																	115580655		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.994G>T	7.37:g.115580655C>A	ENSP00000265440:p.Glu332*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Nonsense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.E332*	ENST00000265440.7	37	c.994	CCDS5762.1	7	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916176	0.92249	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	.	.	.	5.45	4.55	0.56014	.	0.287008	0.40469	N	0.001100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-1.4702	15.3594	0.74460	0.1408:0.8592:0.0:0.0	.	.	.	.	X	332;265;303	.	ENSP00000265440:E332X	E	-	1	0	TFEC	115367891	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.769000	0.68865	1.258000	0.44101	0.650000	0.86243	GAA	TFEC	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000105967		0.418	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4	78	0.00	0	C	NM_012252		115580655	115580655	-1	no_errors	ENST00000265440	ensembl	human	known	69_37n	nonsense	59	13.24	9	SNP	1.000	A
TFG	10342	genome.wustl.edu	37	3	100467135	100467135	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:100467135G>A	ENST00000240851.4	+	8	1303	c.963G>A	c.(961-963)gcG>gcA	p.A321A	TFG_ENST00000476228.1_Silent_p.A317A|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Silent_p.A321A|TFG_ENST00000418917.2_Silent_p.A317A	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	321					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						AGTACCAGGCGAGCAATTATC	0.542			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0													84.0	86.0	86.0					3																	100467135		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.963G>A	3.37:g.100467135G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.A321	ENST00000240851.4	37	c.963	CCDS2939.1	3	.	.	.	.	.	.	.	.	.	.	G	6.065	0.380309	0.11466	.	.	ENSG00000114354	ENST00000443578	.	.	.	6.16	4.33	0.51752	.	.	.	.	.	T	0.61677	0.2366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64799	-0.6322	5	0.87932	D	0	-4.6482	5.8905	0.18911	0.0655:0.1181:0.5772:0.2392	.	.	.	.	Q	317	.	ENSP00000409727:R317Q	R	+	2	0	TFG	101949825	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.130000	0.15850	1.582000	0.49881	0.650000	0.86243	CGA	TFG	-	NULL	ENSG00000114354		0.542	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	151	0.00	0	G	NM_006070		100467135	100467135	+1	no_errors	ENST00000240851	ensembl	human	known	69_37n	silent	102	12.71	15	SNP	1.000	A
TG	7038	genome.wustl.edu	37	8	133895131	133895131	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:133895131G>A	ENST00000220616.4	+	8	1002	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	TG_ENST00000377869.1_Missense_Mutation_p.R321Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	321	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCCGCCGAAATGGCGAC	0.572																																						dbGAP											0													54.0	54.0	54.0					8																	133895131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.962G>A	8.37:g.133895131G>A	ENSP00000220616:p.Arg321Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R321Q	ENST00000220616.4	37	c.962	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658947	0.29515	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.63255	-0.03;-0.03	5.49	-3.27	0.05048	Thyroglobulin type-1 (6);	1.879780	0.02799	N	0.122979	T	0.53997	0.1831	L	0.39633	1.23	0.09310	N	1	P	0.52463	0.953	B	0.43052	0.406	T	0.56312	-0.8000	10	0.39692	T	0.17	.	9.8958	0.41318	0.2881:0.5692:0.1427:0.0	.	321	P01266	THYG_HUMAN	Q	321	ENSP00000367100:R321Q;ENSP00000220616:R321Q	ENSP00000220616:R321Q	R	+	2	0	TG	133964313	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.343000	0.19944	-0.248000	0.09583	-0.222000	0.12452	CGA	TG	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	120	0.00	0	G	NM_003235		133895131	133895131	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	48	30.00	21	SNP	0.000	A
TGFB2	7042	genome.wustl.edu	37	1	218607442	218607442	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:218607442T>G	ENST00000366930.4	+	3	996	c.529T>G	c.(529-531)Tta>Gta	p.L177V	TGFB2_ENST00000366929.4_Missense_Mutation_p.L205V	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	177					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GTCCAAAGATTTAACATCTCC	0.428																																						dbGAP											0													201.0	211.0	208.0					1																	218607442		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.529T>G	1.37:g.218607442T>G	ENSP00000355897:p.Leu177Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta	p.L205V	ENST00000366930.4	37	c.613	CCDS1521.1	1	.	.	.	.	.	.	.	.	.	.	T	9.674	1.147549	0.21288	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.64803	-0.12;-0.12	5.91	0.926	0.19430	Transforming growth factor-beta, N-terminal (1);	0.236227	0.38217	N	0.001770	T	0.45175	0.1329	L	0.31926	0.97	0.26401	N	0.976412	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.003	T	0.25950	-1.0117	10	0.18276	T	0.48	.	10.088	0.42430	0.0:0.3284:0.0:0.6716	.	205;177	P61812-2;P61812	.;TGFB2_HUMAN	V	177;205	ENSP00000355897:L177V;ENSP00000355896:L205V	ENSP00000355896:L205V	L	+	1	2	TGFB2	216674065	0.008000	0.16893	0.425000	0.26659	0.933000	0.57130	0.003000	0.13083	-0.083000	0.12618	0.533000	0.62120	TTA	TGFB2	-	pirsf_TGF-beta,pfam_TGF-b_N,prints_TGFb2	ENSG00000092969		0.428	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2	151	0.00	0	T	NM_003238		218607442	218607442	+1	no_errors	ENST00000366929	ensembl	human	known	69_37n	missense	143	16.37	28	SNP	0.121	G
TGFBI	7045	genome.wustl.edu	37	5	135390500	135390500	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:135390500A>G	ENST00000442011.2	+	10	1521	c.1360A>G	c.(1360-1362)Acc>Gcc	p.T454A	TGFBI_ENST00000305126.8_Missense_Mutation_p.T454A	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	454	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATGGACAGACCCTGGAAAC	0.453																																						dbGAP											0													195.0	195.0	195.0					5																	135390500		1843	4086	5929	-	-	-	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1360A>G	5.37:g.135390500A>G	ENSP00000416330:p.Thr454Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.T454A	ENST00000442011.2	37	c.1360	CCDS47266.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.636|6.636	0.485725|0.485725	0.12641|0.12641	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000508767;ENST00000514554|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.90900	.|-2.75;-2.75	5.83|5.83	5.83|5.83	0.93111|0.93111	.|FAS1 domain (5);	.|0.262111	.|0.43416	.|D	.|0.000570	D|D	0.86456|0.86456	0.5937|0.5937	M|M	0.61703|0.61703	1.905|1.905	0.35429|0.35429	D|D	0.793895|0.793895	.|B;B	.|0.09022	.|0.0;0.002	.|B;B	.|0.08055	.|0.003;0.002	T|T	0.80906|0.80906	-0.1173|-0.1173	5|10	.|0.07325	.|T	.|0.83	-22.8567|-22.8567	10.5224|10.5224	0.44927|0.44927	0.9283:0.0:0.0717:0.0|0.9283:0.0:0.0717:0.0	.|.	.|187;454	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	G|A	192;171|454;187;454	.|ENSP00000416330:T454A;ENSP00000306306:T454A	.|ENSP00000306306:T454A	D|T	+|+	2|1	0|0	TGFBI|TGFBI	135418399|135418399	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	2.364000|2.364000	0.44187|0.44187	2.235000|2.235000	0.73313|0.73313	0.533000|0.533000	0.62120|0.62120	GAC|ACC	TGFBI	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.453	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	190	0.00	0	A			135390500	135390500	+1	no_errors	ENST00000305126	ensembl	human	known	69_37n	missense	150	13.71	24	SNP	0.992	G
TGIF1	7050	genome.wustl.edu	37	18	3457415	3457415	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:3457415G>T	ENST00000330513.5	+	3	986	c.683G>T	c.(682-684)aGa>aTa	p.R228I	TGIF1_ENST00000401449.1_Missense_Mutation_p.R79I|TGIF1_ENST00000577543.1_3'UTR|TGIF1_ENST00000400167.2_Missense_Mutation_p.R79I|TGIF1_ENST00000551541.1_Missense_Mutation_p.R79I|TGIF1_ENST00000345133.5_Missense_Mutation_p.R79I|TGIF1_ENST00000343820.5_Missense_Mutation_p.R99I|TGIF1_ENST00000405385.3_Missense_Mutation_p.R79I|TGIF1_ENST00000548489.2_Missense_Mutation_p.R113I|TGIF1_ENST00000407501.2_Missense_Mutation_p.R99I|TGIF1_ENST00000472042.1_Missense_Mutation_p.R79I	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	228					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GACATGCTGAGAAAGGATGGC	0.493																																						dbGAP											0													53.0	55.0	54.0					18																	3457415		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.683G>T	18.37:g.3457415G>T	ENSP00000327959:p.Arg228Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R228I	ENST00000330513.5	37	c.683	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572299	0.86542	.	.	ENSG00000177426	ENST00000552383;ENST00000401449;ENST00000550958;ENST00000548489;ENST00000549780;ENST00000549253;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000549468;ENST00000400167;ENST00000551333;ENST00000472042	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.35	5.35	0.76521	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91307	0.7259	M	0.82716	2.605	0.80722	D	1	D;D;D	0.57899	0.968;0.966;0.981	P;P;P	0.62184	0.773;0.899;0.899	D	0.92103	0.5690	10	0.72032	D	0.01	-13.1299	19.4438	0.94838	0.0:0.0:1.0:0.0	.	228;99;113	Q15583;Q15583-2;F8VZB6	TGIF1_HUMAN;.;.	I	79;79;79;113;79;102;79;99;99;99;79;79;228;79;79;79;79;79	ENSP00000449287:R79I;ENSP00000385206:R79I;ENSP00000449531:R79I;ENSP00000447747:R113I;ENSP00000448121:R79I;ENSP00000384970:R79I;ENSP00000339631:R99I;ENSP00000384133:R99I;ENSP00000448934:R99I;ENSP00000450025:R79I;ENSP00000343969:R79I;ENSP00000327959:R228I;ENSP00000449580:R79I;ENSP00000449722:R79I;ENSP00000383031:R79I;ENSP00000446838:R79I;ENSP00000449501:R79I	ENSP00000327959:R228I	R	+	2	0	TGIF1	3447415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.655000	0.90218	0.655000	0.94253	AGA	TGIF1	-	pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain	ENSG00000177426		0.493	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	141	0.00	0	G	NM_170695		3457415	3457415	+1	no_errors	ENST00000330513	ensembl	human	known	69_37n	missense	87	23.01	26	SNP	1.000	T
TGM2	7052	genome.wustl.edu	37	20	36758733	36758733	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:36758733C>A	ENST00000361475.2	-	13	2125	c.1952G>T	c.(1951-1953)aGa>aTa	p.R651I	TGM2_ENST00000536701.1_Missense_Mutation_p.R570I|TGM2_ENST00000536724.1_Missense_Mutation_p.R591I	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	651					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAGGTCCATTCTCACCTTAAC	0.617																																						dbGAP											0													51.0	38.0	43.0					20																	36758733		2203	4299	6502	-	-	-	SO:0001583	missense	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1952G>T	20.37:g.36758733C>A	ENSP00000355330:p.Arg651Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.R651I	ENST00000361475.2	37	c.1952	CCDS13302.1	20	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619586	0.46736	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.70399	-0.48;-0.48;-0.48	5.19	3.27	0.37495	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.305210	0.33235	N	0.005123	T	0.60560	0.2278	L	0.40543	1.245	0.52099	D	0.999946	B;B;B;B	0.34290	0.447;0.331;0.331;0.12	B;B;B;B	0.37047	0.051;0.24;0.173;0.133	T	0.52653	-0.8547	10	0.26408	T	0.33	-27.9547	10.516	0.44889	0.0:0.8442:0.0:0.1558	.	591;570;651;57	F5H6P0;B4DIT7;P21980;Q6DKH2	.;.;TGM2_HUMAN;.	I	651;570;591	ENSP00000355330:R651I;ENSP00000444701:R570I;ENSP00000437479:R591I	ENSP00000355330:R651I	R	-	2	0	TGM2	36192147	0.043000	0.20138	0.579000	0.28588	0.004000	0.04260	2.742000	0.47434	0.606000	0.29965	0.555000	0.69702	AGA	TGM2	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000198959		0.617	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	104	0.00	0	C	NM_198951		36758733	36758733	-1	no_errors	ENST00000361475	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	0.704	A
THADA	63892	genome.wustl.edu	37	2	43514201	43514201	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:43514201C>A	ENST00000405006.4	-	35	5362		c.e35-1		THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated											breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATTCCCTGTTCTAAAAGCACA	0.478																																						dbGAP											0													48.0	46.0	46.0					2																	43514201		1952	4166	6118	-	-	-	SO:0001630	splice_region_variant	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5011-1G>T	2.37:g.43514201C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Splice_Site	SNP	-	e34-1	ENST00000405006.4	37	c.5011-1	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407116	0.25378	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000407351;ENST00000405006	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2418	0.82411	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THADA	43367705	0.985000	0.35326	0.921000	0.36526	0.053000	0.15095	2.909000	0.48758	2.559000	0.86315	0.655000	0.94253	.	THADA	-	-	ENSG00000115970		0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	113	0.00	0	C	NM_022065	Intron	43514201	43514201	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	splice_site	115	12.88	17	SNP	0.987	A
THADA	63892	genome.wustl.edu	37	2	43787409	43787409	+	Silent	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:43787409A>C	ENST00000405006.4	-	16	2778	c.2427T>G	c.(2425-2427)ctT>ctG	p.L809L	THADA_ENST00000405975.2_Silent_p.L809L|THADA_ENST00000415080.2_Silent_p.L519L|THADA_ENST00000404790.1_Silent_p.L809L|THADA_ENST00000330266.7_Silent_p.L519L|THADA_ENST00000402360.2_Silent_p.L809L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	809										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTTCATCAGAAGATCAAATG	0.338																																						dbGAP											0													67.0	66.0	67.0					2																	43787409		1821	4071	5892	-	-	-	SO:0001819	synonymous_variant	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2427T>G	2.37:g.43787409A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.F123C	ENST00000405006.4	37	c.368	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	A	9.591	1.126244	0.20959	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.77	3.19	0.36642	.	.	.	.	.	T	0.56321	0.1977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51748	-0.8666	4	.	.	.	.	7.7992	0.29164	0.5404:0.387:0.0725:0.0	.	.	.	.	C	123	.	.	F	-	2	0	THADA	43640913	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	1.082000	0.41137	0.533000	0.62120	TTC	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.338	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	229	0.00	0	A	NM_022065		43787409	43787409	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000407351	ensembl	human	novel	69_37n	missense	130	13.91	21	SNP	0.997	C
THADA	63892	genome.wustl.edu	37	2	43808883	43808883	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:43808883C>T	ENST00000405006.4	-	8	1069	c.718G>A	c.(718-720)Gat>Aat	p.D240N	THADA_ENST00000405975.2_Missense_Mutation_p.D240N|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000403856.1_Missense_Mutation_p.D240N|THADA_ENST00000404790.1_Missense_Mutation_p.D240N|THADA_ENST00000402360.2_Missense_Mutation_p.D240N	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	240										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CACTTACCATCGCTTAAAACC	0.323																																						dbGAP											0													73.0	69.0	70.0					2																	43808883		1806	4066	5872	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.718G>A	2.37:g.43808883C>T	ENSP00000385995:p.Asp240Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.D240N	ENST00000405006.4	37	c.718	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451294	0.26074	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.74315	0.64;0.64;-0.83;-0.83;0.64	4.96	2.13	0.27403	.	0.108239	0.64402	N	0.000011	T	0.63094	0.2482	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.31054	0.143;0.066;0.306;0.039	B;B;B;B	0.24848	0.023;0.011;0.056;0.005	T	0.54234	-0.8324	10	0.13108	T	0.6	.	9.8225	0.40891	0.0:0.7024:0.0:0.2976	.	240;240;240;240	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	N	240	ENSP00000386088:D240N;ENSP00000385995:D240N;ENSP00000385441:D240N;ENSP00000384266:D240N;ENSP00000385469:D240N	ENSP00000349464:D240N	D	-	1	0	THADA	43662387	0.627000	0.27129	0.874000	0.34290	0.519000	0.34347	1.009000	0.29886	0.613000	0.30089	0.462000	0.41574	GAT	THADA	-	NULL	ENSG00000115970		0.323	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	119	0.00	0	C	NM_022065		43808883	43808883	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	114	26.11	41	SNP	0.500	T
THAP9	79725	genome.wustl.edu	37	4	83825903	83825903	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:83825903C>T	ENST00000302236.5	+	2	146	c.95C>T	c.(94-96)aCc>aTc	p.T32I		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	32					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCAACTGATACCATACAGCGC	0.353																																						dbGAP											0													78.0	80.0	79.0					4																	83825903		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.95C>T	4.37:g.83825903C>T	ENSP00000305533:p.Thr32Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T32I	ENST00000302236.5	37	c.95	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743821	0.30865	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.96232	-3.95	3.8	2.95	0.34219	Zinc finger, C2CH-type (4);	0.431414	0.19895	N	0.103656	D	0.91456	0.7303	N	0.25890	0.77	0.25398	N	0.98846	B	0.17667	0.023	B	0.20767	0.031	D	0.83827	0.0250	10	0.36615	T	0.2	-5.2588	9.4692	0.38831	0.0:0.8954:0.0:0.1046	.	32	Q9H5L6	THAP9_HUMAN	I	32	ENSP00000305533:T32I	ENSP00000305533:T32I	T	+	2	0	THAP9	84044927	0.909000	0.30893	0.827000	0.32855	0.986000	0.74619	1.203000	0.32284	1.165000	0.42670	0.650000	0.86243	ACC	THAP9	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000168152		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	73	0.00	0	C	NM_024672		83825903	83825903	+1	no_errors	ENST00000302236	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.891	T
THBS1	7057	genome.wustl.edu	37	15	39885726	39885726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:39885726C>T	ENST00000260356.5	+	19	3289	c.3124C>T	c.(3124-3126)Caa>Taa	p.Q1042*	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1042	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GATGTGGAAGCAAGTCACCCA	0.537																																						dbGAP											0													120.0	119.0	119.0					15																	39885726		2200	4297	6497	-	-	-	SO:0001587	stop_gained	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3124C>T	15.37:g.39885726C>T	ENSP00000260356:p.Gln1042*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Nonsense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.Q1042*	ENST00000260356.5	37	c.3124	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	C	42	9.615787	0.99220	.	.	ENSG00000137801	ENST00000260356	.	.	.	5.77	5.77	0.91146	.	0.000000	0.34906	N	0.003582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-12.8312	19.9729	0.97289	0.0:1.0:0.0:0.0	.	.	.	.	X	1042	.	ENSP00000260356:Q1042X	Q	+	1	0	THBS1	37673018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.814000	0.86154	2.714000	0.92807	0.655000	0.94253	CAA	THBS1	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl	ENSG00000137801		0.537	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	92	0.00	0	C	NM_003246		39885726	39885726	+1	no_errors	ENST00000260356	ensembl	human	known	69_37n	nonsense	64	19.75	16	SNP	1.000	T
THBS4	7060	genome.wustl.edu	37	5	79335985	79335985	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79335985C>A	ENST00000350881.2	+	2	364	c.174C>A	c.(172-174)ctC>ctA	p.L58L	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	58	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGAATGATCTCTATGTGATTT	0.473																																						dbGAP											0													74.0	75.0	75.0					5																	79335985		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.174C>A	5.37:g.79335985C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.L58	ENST00000350881.2	37	c.174	CCDS4049.1	5																																																																																			THBS4	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000113296		0.473	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	110	0.00	0	C			79335985	79335985	+1	no_errors	ENST00000350881	ensembl	human	known	69_37n	silent	91	24.17	29	SNP	0.944	A
THEMIS	387357	genome.wustl.edu	37	6	128135035	128135035	+	Missense_Mutation	SNP	C	C	T	rs373934545		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:128135035C>T	ENST00000368248.2	-	4	899	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	THEMIS_ENST00000368250.1_Missense_Mutation_p.E172K|THEMIS_ENST00000543064.1_Missense_Mutation_p.E251K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E216K	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	251	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTTTGACTTCGACATCTAGA	0.348																																						dbGAP											0													110.0	119.0	116.0					6																	128135035		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.751G>A	6.37:g.128135035C>T	ENSP00000357231:p.Glu251Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.E251K	ENST00000368248.2	37	c.751	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304198	0.81136	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.51325	2.75;2.75;2.75;2.75;0.71	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.72894	2.215	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.946;0.999	T	0.67405	-0.5679	10	0.72032	D	0.01	-20.1179	19.6017	0.95566	0.0:1.0:0.0:0.0	.	251;251	F5H1J9;Q8N1K5	.;THMS1_HUMAN	K	172;251;251;216;19	ENSP00000357233:E172K;ENSP00000439594:E251K;ENSP00000357231:E251K;ENSP00000439863:E216K;ENSP00000387740:E19K	ENSP00000357231:E251K	E	-	1	0	THEMIS	128176728	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.223000	0.72257	2.643000	0.89663	0.455000	0.32223	GAA	THEMIS	-	NULL	ENSG00000172673		0.348	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		249	0.00	0	C	NM_001010923		128135035	128135035	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	missense	234	12.03	32	SNP	1.000	T
THEMIS	387357	genome.wustl.edu	37	6	128150657	128150657	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:128150657G>T	ENST00000368248.2	-	3	821	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	THEMIS_ENST00000368250.1_Missense_Mutation_p.L146I|THEMIS_ENST00000543064.1_Missense_Mutation_p.L225I|THEMIS_ENST00000537166.1_Missense_Mutation_p.L190I	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	225	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACAGGCTTGAGAATCAGGGTA	0.368																																						dbGAP											0													109.0	107.0	107.0					6																	128150657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.673C>A	6.37:g.128150657G>T	ENSP00000357231:p.Leu225Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.L225I	ENST00000368248.2	37	c.673	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290645	0.80914	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000001	T	0.31638	0.0803	M	0.79926	2.475	0.41873	D	0.990281	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.01961	-1.1239	10	0.59425	D	0.04	-16.612	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	225;225	F5H1J9;Q8N1K5	.;THMS1_HUMAN	I	146;225;225;190	ENSP00000357233:L146I;ENSP00000439594:L225I;ENSP00000357231:L225I;ENSP00000439863:L190I	ENSP00000357231:L225I	L	-	1	0	THEMIS	128192350	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.135000	0.71696	2.937000	0.99478	0.650000	0.86243	CTC	THEMIS	-	NULL	ENSG00000172673		0.368	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		141	0.00	0	G	NM_001010923		128150657	128150657	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	missense	78	10.34	9	SNP	1.000	T
THEMIS	387357	genome.wustl.edu	37	6	128222054	128222054	+	Silent	SNP	G	G	A	rs267600796		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:128222054G>A	ENST00000368248.2	-	1	172	c.24C>T	c.(22-24)ttC>ttT	p.F8F	THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000543064.1_Silent_p.F8F|THEMIS_ENST00000537166.1_Intron	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	8	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGGAGTGGACGAATTCTTCCA	0.483																																						dbGAP											0													242.0	236.0	238.0					6																	128222054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.24C>T	6.37:g.128222054G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	NULL	p.F8	ENST00000368248.2	37	c.24	CCDS34534.1	6																																																																																			THEMIS	-	NULL	ENSG00000172673		0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		635	0.00	0	G	NM_001010923		128222054	128222054	-1	no_errors	ENST00000543064	ensembl	human	known	69_37n	silent	402	12.80	59	SNP	0.002	A
THNSL1	79896	genome.wustl.edu	37	10	25313141	25313141	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:25313141T>C	ENST00000524413.1	+	3	1336	c.989T>C	c.(988-990)gTc>gCc	p.V330A	THNSL1_ENST00000376356.4_Missense_Mutation_p.V330A			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	330						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	ATTGCTCCTGTCAGGCACCTT	0.428																																						dbGAP											0													84.0	75.0	78.0					10																	25313141		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.989T>C	10.37:g.25313141T>C	ENSP00000434887:p.Val330Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase,pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu,prints_Shikimate_kinase,tigrfam_Thr_synthase	p.V330A	ENST00000524413.1	37	c.989	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584492	0.65992	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.13196	2.61;2.61	5.71	5.71	0.89125	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.140950	0.46758	D	0.000270	T	0.40570	0.1122	M	0.81341	2.54	0.49483	D	0.999798	D	0.71674	0.998	D	0.69824	0.966	T	0.36648	-0.9739	10	0.87932	D	0	-33.3128	15.9893	0.80188	0.0:0.0:0.0:1.0	.	330	Q8IYQ7	THNS1_HUMAN	A	330	ENSP00000434887:V330A;ENSP00000365534:V330A	ENSP00000365534:V330A	V	+	2	0	THNSL1	25353147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.697000	0.84279	2.181000	0.69327	0.528000	0.53228	GTC	THNSL1	-	superfamily_PyrdxlP-dep_enz_bsu,tigrfam_Thr_synthase	ENSG00000185875		0.428	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1	203	0.00	0	T	NM_024838		25313141	25313141	+1	no_errors	ENST00000376356	ensembl	human	known	69_37n	missense	129	11.64	17	SNP	1.000	C
THOC2	57187	genome.wustl.edu	37	X	122758014	122758014	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:122758014G>A	ENST00000245838.8	-	27	3246	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I	THOC2_ENST00000355725.4_Missense_Mutation_p.T1072I|THOC2_ENST00000491737.1_Missense_Mutation_p.T957I	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1072					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCGTAATATGGTAAGGAATCC	0.328																																						dbGAP											0													123.0	103.0	109.0					X																	122758014		1830	4070	5900	-	-	-	SO:0001583	missense	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3215C>T	X.37:g.122758014G>A	ENSP00000245838:p.Thr1072Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.T1072I	ENST00000245838.8	37	c.3215	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892251	0.72524	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	.	.	.	5.77	5.77	0.91146	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.78201	0.4246	M	0.67569	2.06	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.76830	-0.2814	9	0.41790	T	0.15	-9.8312	18.9662	0.92697	0.0:0.0:1.0:0.0	.	1072	Q8NI27	THOC2_HUMAN	I	1072;1072;957	.	ENSP00000245838:T1072I	T	-	2	0	THOC2	122585695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.427000	0.82271	0.600000	0.82982	ACC	THOC2	-	pfam_THO_THOC2_C	ENSG00000125676		0.328	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	430	0.00	0	G			122758014	122758014	-1	no_errors	ENST00000245838	ensembl	human	known	69_37n	missense	305	23.31	93	SNP	1.000	A
THSD7A	221981	genome.wustl.edu	37	7	11446061	11446061	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:11446061G>A	ENST00000423059.4	-	22	4354	c.4103C>T	c.(4102-4104)tCt>tTt	p.S1368F	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1368	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TACTACACAAGAAATGTTCCT	0.388										HNSCC(18;0.044)																												dbGAP											0													75.0	76.0	76.0					7																	11446061		1935	4143	6078	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4103C>T	7.37:g.11446061G>A	ENSP00000406482:p.Ser1368Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S1368F	ENST00000423059.4	37	c.4103	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059654	0.76074	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.54675	0.56	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.78637	2.42	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.65446	-0.6166	10	0.18276	T	0.48	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1368	Q9UPZ6	THS7A_HUMAN	F	1368	ENSP00000406482:S1368F	ENSP00000262042:S1368F	S	-	2	0	THSD7A	11412586	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.833000	0.99426	2.941000	0.99782	0.655000	0.94253	TCT	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000005108		0.388	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	125	0.00	0	G	XM_928187.2		11446061	11446061	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	101	13.68	16	SNP	1.000	A
TIAM1	7074	genome.wustl.edu	37	21	32624209	32624209	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:32624209C>T	ENST00000286827.3	-	6	1731	c.1260G>A	c.(1258-1260)ccG>ccA	p.P420P	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.P420P	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	420					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGACTGGCCCGGAGAGCTCA	0.672																																						dbGAP											0													49.0	53.0	52.0					21																	32624209		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1260G>A	21.37:g.32624209C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.P420	ENST00000286827.3	37	c.1260	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.672	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	41	0.00	0	C	NM_003253		32624209	32624209	-1	no_errors	ENST00000286827	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.896	T
TIAM1	7074	genome.wustl.edu	37	21	32639114	32639114	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:32639114T>C	ENST00000286827.3	-	5	646	c.175A>G	c.(175-177)Agc>Ggc	p.S59G	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S59G	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	59					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGGGTGCTGCTGGATCGGGTG	0.632																																						dbGAP											0													44.0	47.0	46.0					21																	32639114		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.175A>G	21.37:g.32639114T>C	ENSP00000286827:p.Ser59Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S59G	ENST00000286827.3	37	c.175	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034794	0.75617	.	.	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.59772	0.36;0.24	5.35	4.19	0.49359	.	0.043168	0.85682	D	0.000000	T	0.69637	0.3133	L	0.55481	1.735	0.49299	D	0.999771	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.76071	0.987;0.97;0.97	T	0.71009	-0.4716	10	0.87932	D	0	.	11.6858	0.51485	0.1326:0.0:0.0:0.8674	.	59;59;59	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	G	59	ENSP00000286827:S59G;ENSP00000441570:S59G	ENSP00000286827:S59G	S	-	1	0	TIAM1	31560985	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.546000	0.60705	0.851000	0.35264	0.482000	0.46254	AGC	TIAM1	-	NULL	ENSG00000156299		0.632	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	91	0.00	0	T	NM_003253		32639114	32639114	-1	no_errors	ENST00000286827	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	1.000	C
TIAM2	26230	genome.wustl.edu	37	6	155451383	155451383	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:155451383C>A	ENST00000461783.3	+	6	2299	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P	TIAM2_ENST00000360366.4_Silent_p.P342P|TIAM2_ENST00000318981.5_Silent_p.P342P|TIAM2_ENST00000529824.2_Silent_p.P342P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Silent_p.P342P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	342					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTGATGTGCCCTCCAGAGTGG	0.567																																						dbGAP											0													80.0	78.0	79.0					6																	155451383		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1026C>A	6.37:g.155451383C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.P342	ENST00000461783.3	37	c.1026	CCDS34558.1	6																																																																																			TIAM2	-	NULL	ENSG00000146426		0.567	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	92	0.00	0	C	NM_012454		155451383	155451383	+1	no_errors	ENST00000456144	ensembl	human	known	69_37n	silent	53	32.05	25	SNP	0.992	A
TIE1	7075	genome.wustl.edu	37	1	43771003	43771003	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:43771003G>T	ENST00000372476.3	+	3	552	c.473G>T	c.(472-474)tGg>tTg	p.W158L	TIE1_ENST00000441333.2_Missense_Mutation_p.W158L|TIE1_ENST00000538015.1_Missense_Mutation_p.W158L|TIE1_ENST00000433781.2_5'Flank	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	158					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACGTGATCTGGAAGAGCAAC	0.542																																						dbGAP											0													148.0	135.0	139.0					1																	43771003		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.473G>T	1.37:g.43771003G>T	ENSP00000361554:p.Trp158Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.W158L	ENST00000372476.3	37	c.473	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.775008	0.31411	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.80480	-1.38;-1.38;-1.38	4.76	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.33477	N	0.004869	D	0.86066	0.5844	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.999;0.998;0.999	D;D;D;D;D	0.80764	0.994;0.986;0.994;0.994;0.994	T	0.83054	-0.0151	10	0.20046	T	0.44	.	15.9264	0.79621	0.0:0.0:1.0:0.0	.	113;158;158;158;158	B4DTW8;B5A952;B5A950;B5A948;P35590	.;.;.;.;TIE1_HUMAN	L	158	ENSP00000361554:W158L;ENSP00000401903:W158L;ENSP00000440063:W158L	ENSP00000361554:W158L	W	+	2	0	TIE1	43543590	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.291000	0.78721	2.210000	0.71456	0.561000	0.74099	TGG	TIE1	-	smart_Ig_sub	ENSG00000066056		0.542	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	270	0.00	0	G	NM_005424		43771003	43771003	+1	no_errors	ENST00000372476	ensembl	human	known	69_37n	missense	133	13.64	21	SNP	1.000	T
TIE1	7075	genome.wustl.edu	37	1	43774787	43774787	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:43774787C>T	ENST00000372476.3	+	8	1252	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Silent_p.D36D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	391	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D391D(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAAGCCAGACGGCACTGTGC	0.617																																						dbGAP											2	Substitution - coding silent(2)	lung(1)|endometrium(1)											47.0	48.0	48.0					1																	43774787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1173C>T	1.37:g.43774787C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.D391	ENST00000372476.3	37	c.1173	CCDS482.1	1																																																																																			TIE1	-	smart_Ig_sub	ENSG00000066056		0.617	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	117	0.00	0	C	NM_005424		43774787	43774787	+1	no_errors	ENST00000372476	ensembl	human	known	69_37n	silent	54	38.20	34	SNP	0.154	T
TIGD2	166815	genome.wustl.edu	37	4	90035422	90035422	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:90035422G>A	ENST00000317005.2	+	1	1455	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	433						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TCAGTGGTTCGACTCTCGGAG	0.448																																						dbGAP											0													87.0	84.0	85.0					4																	90035422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1297G>A	4.37:g.90035422G>A	ENSP00000317170:p.Asp433Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.D433N	ENST00000317005.2	37	c.1297	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572400	0.03882	.	.	ENSG00000180346	ENST00000317005	T	0.21734	1.99	4.24	3.4	0.38934	.	0.141228	0.31963	N	0.006797	T	0.12135	0.0295	L	0.40543	1.245	0.26708	N	0.971039	P	0.50066	0.931	B	0.36030	0.216	T	0.15292	-1.0442	10	0.15066	T	0.55	-5.6231	7.8288	0.29330	0.1132:0.0:0.8868:0.0	.	433	Q4W5G0	TIGD2_HUMAN	N	433	ENSP00000317170:D433N	ENSP00000317170:D433N	D	+	1	0	TIGD2	90254445	1.000000	0.71417	0.851000	0.33527	0.001000	0.01503	3.568000	0.53820	1.008000	0.39264	-0.384000	0.06662	GAC	TIGD2	-	NULL	ENSG00000180346		0.448	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2	71	0.00	0	G	NM_145715		90035422	90035422	+1	no_errors	ENST00000317005	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.934	A
TIFA	92610	genome.wustl.edu	37	4	113199408	113199408	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:113199408G>A	ENST00000361717.3	-	2	446	c.165C>T	c.(163-165)atC>atT	p.I55I	TIFA_ENST00000500655.2_Silent_p.I55I	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	55	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TATAATGACAGATGTTGGAAT	0.388																																						dbGAP											0													79.0	90.0	86.0					4																	113199408		2196	4292	6488	-	-	-	SO:0001819	synonymous_variant	0			BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.165C>T	4.37:g.113199408G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom	p.I55	ENST00000361717.3	37	c.165	CCDS34051.1	4																																																																																			TIFA	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom	ENSG00000145365		0.388	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIFA	HGNC	protein_coding	OTTHUMT00000363647.2	174	0.00	0	G	NM_052864		113199408	113199408	-1	no_errors	ENST00000361717	ensembl	human	known	69_37n	silent	48	23.81	15	SNP	0.090	A
TIGD3	220359	genome.wustl.edu	37	11	65124653	65124653	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:65124653C>A	ENST00000309880.5	+	2	1581	c.1374C>A	c.(1372-1374)ttC>ttA	p.F458L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	458						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCGAAAAATTCTACGACTGTG	0.567																																						dbGAP											0													48.0	50.0	50.0					11																	65124653		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1374C>A	11.37:g.65124653C>A	ENSP00000308354:p.Phe458Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.F458L	ENST00000309880.5	37	c.1374	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	C	8.996	0.978908	0.18812	.	.	ENSG00000173825	ENST00000309880	T	0.17054	2.3	4.37	3.17	0.36434	.	0.000000	0.35466	N	0.003186	T	0.16300	0.0392	L	0.27053	0.805	0.28836	N	0.896846	P	0.52842	0.956	P	0.62184	0.899	T	0.17501	-1.0367	10	0.02654	T	1	-5.6457	5.4418	0.16513	0.0:0.8085:0.0:0.1915	.	458	Q6B0B8	TIGD3_HUMAN	L	458	ENSP00000308354:F458L	ENSP00000308354:F458L	F	+	3	2	TIGD3	64881229	1.000000	0.71417	0.992000	0.48379	0.656000	0.38851	1.148000	0.31614	2.187000	0.69744	0.306000	0.20318	TTC	TIGD3	-	NULL	ENSG00000173825		0.567	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	41	0.00	0	C	NM_145719		65124653	65124653	+1	no_errors	ENST00000309880	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	A
TIGIT	201633	genome.wustl.edu	37	3	114026938	114026938	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:114026938G>T	ENST00000486257.1	+	5	952	c.695G>T	c.(694-696)aGa>aTa	p.R232I	TIGIT_ENST00000481065.1_Missense_Mutation_p.R299I|TIGIT_ENST00000383671.3_Missense_Mutation_p.R232I			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	232					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CTGAGTTACAGAAGCCTGGGT	0.493																																						dbGAP											0													151.0	144.0	146.0					3																	114026938		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.695G>T	3.37:g.114026938G>T	ENSP00000419085:p.Arg232Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495A3|Q5JPD8|Q6MZS2|Q8N877	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.R232I	ENST00000486257.1	37	c.695	CCDS2980.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989412	0.74589	.	.	ENSG00000181847	ENST00000481065;ENST00000486257;ENST00000383671	T;T;T	0.69806	-0.43;-0.35;-0.35	4.06	3.19	0.36642	.	0.107611	0.41194	D	0.000922	T	0.67230	0.2871	L	0.36672	1.1	0.46927	D	0.999253	D	0.58268	0.982	P	0.60236	0.871	T	0.64433	-0.6409	9	.	.	.	-7.7151	9.6516	0.39902	0.1007:0.0:0.8993:0.0	.	232	Q495A1	TIGIT_HUMAN	I	299;232;232	ENSP00000420552:R299I;ENSP00000419085:R232I;ENSP00000373167:R232I	.	R	+	2	0	TIGIT	115509628	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.845000	0.48254	1.300000	0.44818	0.655000	0.94253	AGA	TIGIT	-	NULL	ENSG00000181847		0.493	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	190	0.00	0	G	NM_173799		114026938	114026938	+1	no_errors	ENST00000383671	ensembl	human	known	69_37n	missense	141	11.25	18	SNP	1.000	T
TIMM21	29090	genome.wustl.edu	37	18	71816215	71816215	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:71816215C>A	ENST00000169551.6	+	1	470	c.172C>A	c.(172-174)Ctt>Att	p.L58I	FBXO15_ENST00000269500.5_5'Flank|FBXO15_ENST00000419743.2_5'Flank|TIMM21_ENST00000580087.1_Missense_Mutation_p.L58I	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	58					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											TAGATGTATTCTTGGAGTCAC	0.498																																						dbGAP											0													123.0	132.0	129.0					18																	71816215		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.172C>A	18.37:g.71816215C>A	ENSP00000169551:p.Leu58Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P010	Missense_Mutation	SNP	pfam_Tim21	p.L58I	ENST00000169551.6	37	c.172	CCDS12003.1	18	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075665	0.20227	.	.	ENSG00000075336	ENST00000169551	T	0.47528	0.84	4.74	-0.304	0.12788	.	0.760767	0.11876	N	0.520914	T	0.35098	0.0920	M	0.62723	1.935	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.30387	-0.9980	10	0.18710	T	0.47	-1.8955	1.2556	0.01990	0.1527:0.4337:0.1483:0.2653	.	58	Q9BVV7	TI21L_HUMAN	I	58	ENSP00000169551:L58I	ENSP00000169551:L58I	L	+	1	0	C18orf55	69967195	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.185000	0.09684	-0.270000	0.09285	-0.188000	0.12872	CTT	TIMM21	-	NULL	ENSG00000075336		0.498	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM21	HGNC	protein_coding	OTTHUMT00000256318.1	96	0.00	0	C	NM_014177		71816215	71816215	+1	no_errors	ENST00000169551	ensembl	human	known	69_37n	missense	61	12.68	9	SNP	0.000	A
TIMM22	29928	genome.wustl.edu	37	17	902167	902167	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:902167C>T	ENST00000327158.4	+	2	413	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	129					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCAAAAATTTCGCCATTGTGG	0.463																																						dbGAP											0													238.0	216.0	224.0					17																	902167		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.387C>T	17.37:g.902167C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWI8	Silent	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.F129	ENST00000327158.4	37	c.387	CCDS32521.1	17																																																																																			TIMM22	-	pfam_Tim17/Tim22/Tim23/PMP24	ENSG00000177370		0.463	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM22	HGNC	protein_coding	OTTHUMT00000450107.2	282	0.00	0	C	NM_013337		902167	902167	+1	no_errors	ENST00000327158	ensembl	human	known	69_37n	silent	102	41.71	73	SNP	0.999	T
TINAG	27283	genome.wustl.edu	37	6	54212306	54212306	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:54212306G>T	ENST00000259782.4	+	6	986	c.890G>T	c.(889-891)aGa>aTa	p.R297I		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	297					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGTACCTGAGAAAACGTGGG	0.403																																						dbGAP											0													89.0	79.0	82.0					6																	54212306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.890G>T	6.37:g.54212306G>T	ENSP00000259782:p.Arg297Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.R297I	ENST00000259782.4	37	c.890	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347617	0.82022	.	.	ENSG00000137251	ENST00000259782	D	0.83250	-1.7	5.77	5.77	0.91146	Peptidase C1A, papain C-terminal (2);	0.148651	0.48767	D	0.000175	T	0.75744	0.3891	L	0.33137	0.985	0.80722	D	1	P	0.50369	0.934	P	0.49637	0.617	T	0.80122	-0.1514	10	0.72032	D	0.01	.	12.8911	0.58071	0.0784:0.0:0.9216:0.0	.	297	Q9UJW2	TINAG_HUMAN	I	297	ENSP00000259782:R297I	ENSP00000259782:R297I	R	+	2	0	TINAG	54320265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.656000	0.61483	2.728000	0.93425	0.591000	0.81541	AGA	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000137251		0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	268	0.00	0	G	NM_014464		54212306	54212306	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	missense	109	30.13	47	SNP	1.000	T
TINAGL1	64129	genome.wustl.edu	37	1	32048821	32048821	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:32048821C>T	ENST00000271064.7	+	4	522	c.446C>T	c.(445-447)gCc>gTc	p.A149V	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Intron|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	149					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ATGATCAAAGCCATCAACCAG	0.547																																						dbGAP											0													114.0	88.0	97.0					1																	32048821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.446C>T	1.37:g.32048821C>T	ENSP00000271064:p.Ala149Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.A149V	ENST00000271064.7	37	c.446	CCDS343.1	1	.	.	.	.	.	.	.	.	.	.	c	14.54	2.567249	0.45694	.	.	ENSG00000142910	ENST00000271064;ENST00000403321	T	0.42131	0.98	4.47	4.47	0.54385	.	0.193213	0.41938	D	0.000782	T	0.48677	0.1513	M	0.68593	2.085	0.80722	D	1	D	0.53151	0.958	P	0.49502	0.613	T	0.42865	-0.9426	10	0.14656	T	0.56	.	16.4451	0.83925	0.0:1.0:0.0:0.0	.	149	Q9GZM7	TINAL_HUMAN	V	149;137	ENSP00000271064:A149V	ENSP00000271064:A149V	A	+	2	0	TINAGL1	31821408	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.563000	0.53784	2.505000	0.84491	0.467000	0.42956	GCC	TINAGL1	-	NULL	ENSG00000142910		0.547	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	99	0.00	0	C	NM_022164		32048821	32048821	+1	no_errors	ENST00000271064	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	T
TIPIN	54962	genome.wustl.edu	37	15	66629433	66629433	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:66629433C>T	ENST00000261881.4	-	8	854	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	TIPIN_ENST00000367709.4_Missense_Mutation_p.E156K	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	257					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						AGAATGTCTTCGTTTAATCCA	0.378																																						dbGAP											0													189.0	169.0	176.0					15																	66629433		2200	4299	6499	-	-	-	SO:0001583	missense	0			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.769G>A	15.37:g.66629433C>T	ENSP00000261881:p.Glu257Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CW64|Q9NWZ6	Missense_Mutation	SNP	pfam_Swi3	p.E257K	ENST00000261881.4	37	c.769	CCDS10215.1	15	.	.	.	.	.	.	.	.	.	.	C	2.935	-0.220092	0.06061	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.14266	2.52;2.75	4.55	-0.558	0.11796	.	1.132060	0.06516	N	0.738805	T	0.04092	0.0114	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	10	0.06891	T	0.86	0.0229	5.3167	0.15860	0.1824:0.5918:0.0:0.2258	.	257	Q9BVW5	TIPIN_HUMAN	K	156;257	ENSP00000356682:E156K;ENSP00000261881:E257K	ENSP00000261881:E257K	E	-	1	0	TIPIN	64416487	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.421000	0.07053	-0.398000	0.07679	-0.312000	0.09012	GAA	TIPIN	-	NULL	ENSG00000075131		0.378	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPIN	HGNC	protein_coding	OTTHUMT00000256897.2	163	0.00	0	C	NM_017858		66629433	66629433	-1	no_errors	ENST00000261881	ensembl	human	known	69_37n	missense	115	21.77	32	SNP	0.000	T
TIPIN	54962	genome.wustl.edu	37	15	66641443	66641443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:66641443G>A	ENST00000261881.4	-	6	515	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TIPIN_ENST00000367709.4_Nonsense_Mutation_p.R43*|Y_RNA_ENST00000411339.1_RNA|SCARNA14_ENST00000516903.1_RNA	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	144					cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						AGATCAAGTCGAATTCGTTTT	0.289																																						dbGAP											0													59.0	63.0	62.0					15																	66641443		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.430C>T	15.37:g.66641443G>A	ENSP00000261881:p.Arg144*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CW64|Q9NWZ6	Nonsense_Mutation	SNP	pfam_Swi3	p.R144*	ENST00000261881.4	37	c.430	CCDS10215.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.171081	0.94807	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6063	13.3851	0.60791	0.0:0.0:0.8421:0.1579	.	.	.	.	X	43;144	.	ENSP00000261881:R144X	R	-	1	2	TIPIN	64428497	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.097000	0.64542	2.539000	0.85634	0.555000	0.69702	CGA	TIPIN	-	pfam_Swi3	ENSG00000075131		0.289	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIPIN	HGNC	protein_coding	OTTHUMT00000256897.2	251	0.00	0	G	NM_017858		66641443	66641443	-1	no_errors	ENST00000261881	ensembl	human	known	69_37n	nonsense	175	20.81	46	SNP	1.000	A
TLE6	79816	genome.wustl.edu	37	19	2980133	2980133	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:2980133G>A	ENST00000246112.4	+	3	288	c.87G>A	c.(85-87)ccG>ccA	p.P29P	TLE6_ENST00000452088.1_5'UTR|TLE6_ENST00000482627.1_Silent_p.P29P	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	29					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCTCTCCGACGCTGAATT	0.547																																						dbGAP											0													132.0	103.0	112.0					19																	2980133		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.87G>A	19.37:g.2980133G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KMZ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.P29	ENST00000246112.4	37	c.87	CCDS45910.1	19																																																																																			TLE6	-	NULL	ENSG00000104953		0.547	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	73	0.00	0	G	NM_024760		2980133	2980133	+1	no_errors	ENST00000246112	ensembl	human	known	69_37n	silent	42	24.56	14	SNP	0.000	A
TLK1	9874	genome.wustl.edu	37	2	171906626	171906626	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:171906626T>G	ENST00000431350.2	-	9	1195	c.791A>C	c.(790-792)aAa>aCa	p.K264T	TLK1_ENST00000360843.3_Missense_Mutation_p.K285T|TLK1_ENST00000434911.2_Missense_Mutation_p.K168T|TLK1_ENST00000442919.2_Missense_Mutation_p.K216T|TLK1_ENST00000521943.1_Missense_Mutation_p.K216T			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	264					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TAATCGTTCTTTGTATTTTTC	0.348																																						dbGAP											0													112.0	103.0	106.0					2																	171906626		2200	4297	6497	-	-	-	SO:0001583	missense	0			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.791A>C	2.37:g.171906626T>G	ENSP00000411099:p.Lys264Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K264T	ENST00000431350.2	37	c.791	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683830	0.88639	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.998;0.995;1.0	D;D;D	0.87578	0.954;0.969;0.998	T	0.78398	-0.2219	10	0.87932	D	0	-17.6089	16.5655	0.84588	0.0:0.0:0.0:1.0	.	168;285;264	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	T	216;264;285;216;168	ENSP00000402165:K216T;ENSP00000411099:K264T;ENSP00000354089:K285T;ENSP00000428113:K216T;ENSP00000409222:K168T	ENSP00000354089:K285T	K	-	2	0	TLK1	171614872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	AAA	TLK1	-	NULL	ENSG00000198586		0.348	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	601	0.00	0	T	NM_012290		171906626	171906626	-1	no_errors	ENST00000431350	ensembl	human	known	69_37n	missense	278	30.94	125	SNP	1.000	G
TLK1	9874	genome.wustl.edu	37	2	171939347	171939347	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:171939347C>T	ENST00000431350.2	-	3	678	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	TLK1_ENST00000486857.1_5'UTR|TLK1_ENST00000360843.3_Missense_Mutation_p.E92K|TLK1_ENST00000442919.2_Missense_Mutation_p.E44K|TLK1_ENST00000521943.1_Missense_Mutation_p.E44K			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	92					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTAGAGCTTTCGTTATTTGTT	0.284																																						dbGAP											0													90.0	99.0	96.0					2																	171939347		2202	4297	6499	-	-	-	SO:0001583	missense	0			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.274G>A	2.37:g.171939347C>T	ENSP00000411099:p.Glu92Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E92K	ENST00000431350.2	37	c.274	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012656	0.93346	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.81914	0.891;0.995	D	0.93526	0.6865	10	0.87932	D	0	.	16.2906	0.82750	0.0:1.0:0.0:0.0	.	92;92	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	K	44;92;92;44	ENSP00000402165:E44K;ENSP00000411099:E92K;ENSP00000354089:E92K;ENSP00000428113:E44K	ENSP00000352810:E92K	E	-	1	0	TLK1	171647593	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.939000	0.70179	2.657000	0.90304	0.591000	0.81541	GAA	TLK1	-	NULL	ENSG00000198586		0.284	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	396	0.00	0	C	NM_012290		171939347	171939347	-1	no_errors	ENST00000431350	ensembl	human	known	69_37n	missense	256	12.63	37	SNP	1.000	T
TLL1	7092	genome.wustl.edu	37	4	166981316	166981316	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:166981316G>T	ENST00000061240.2	+	15	2630	c.1983G>T	c.(1981-1983)gaG>gaT	p.E661D	TLL1_ENST00000507499.1_Missense_Mutation_p.E684D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	661	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAAGTTTGAGTTTTTTGAAT	0.393																																						dbGAP											0													93.0	95.0	94.0					4																	166981316		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1983G>T	4.37:g.166981316G>T	ENSP00000061240:p.Glu661Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.E661D	ENST00000061240.2	37	c.1983	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	2.709	-0.269108	0.05716	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.19250	2.16;2.16	6.08	4.07	0.47477	CUB (5);	0.000000	0.85682	U	0.000000	T	0.08313	0.0207	N	0.04090	-0.28	0.80722	D	1	B;B	0.15473	0.011;0.013	B;B	0.20955	0.023;0.032	T	0.19877	-1.0292	10	0.12766	T	0.61	.	7.1409	0.25556	0.2014:0.0:0.6649:0.1337	.	684;661	E9PD25;O43897	.;TLL1_HUMAN	D	661;684	ENSP00000061240:E661D;ENSP00000426082:E684D	ENSP00000061240:E661D	E	+	3	2	TLL1	167200766	0.999000	0.42202	1.000000	0.80357	0.727000	0.41649	0.528000	0.23002	1.590000	0.49995	0.591000	0.81541	GAG	TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000038295		0.393	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	317	0.00	0	G			166981316	166981316	+1	no_errors	ENST00000061240	ensembl	human	known	69_37n	missense	219	11.34	28	SNP	1.000	T
TLL2	7093	genome.wustl.edu	37	10	98133400	98133400	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:98133400G>A	ENST00000357947.3	-	19	2840	c.2615C>T	c.(2614-2616)tCg>tTg	p.S872L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	872	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S872L(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGAGGCATCCGAATAAAACCT	0.597																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											76.0	76.0	76.0					10																	98133400		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2615C>T	10.37:g.98133400G>A	ENSP00000350630:p.Ser872Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.S872L	ENST00000357947.3	37	c.2615	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.362335	0.95877	.	.	ENSG00000095587	ENST00000357947	T	0.47177	0.85	4.85	4.85	0.62838	CUB (5);	0.000000	0.41097	D	0.000957	D	0.82356	0.5019	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89913	0.4053	10	0.87932	D	0	.	17.4922	0.87707	0.0:0.0:1.0:0.0	.	872	Q9Y6L7	TLL2_HUMAN	L	872	ENSP00000350630:S872L	ENSP00000350630:S872L	S	-	2	0	TLL2	98123390	1.000000	0.71417	0.746000	0.31095	0.988000	0.76386	9.601000	0.98297	2.677000	0.91161	0.561000	0.74099	TCG	TLL2	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000095587		0.597	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	101	0.00	0	G			98133400	98133400	-1	no_errors	ENST00000357947	ensembl	human	known	69_37n	missense	64	16.88	13	SNP	1.000	A
TLR1	7096	genome.wustl.edu	37	4	38799039	38799039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:38799039C>A	ENST00000502213.2	-	3	1643	c.1414G>T	c.(1414-1416)Gaa>Taa	p.E472*	TLR1_ENST00000308979.2_Nonsense_Mutation_p.E472*|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	472					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						ACATTGAGTTCTTGCAAAGCT	0.388																																					GBM(5;216 373 40795 46382)	dbGAP											0													91.0	95.0	94.0					4																	38799039		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1414G>T	4.37:g.38799039C>A	ENSP00000421259:p.Glu472*	Somatic		WXS	Illumina GAIIx	Phase_IV	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	p.E472*	ENST00000502213.2	37	c.1414	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.666600	0.97747	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	4.61	3.77	0.43336	.	0.178927	0.37012	N	0.002284	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1007	0.59218	0.0:0.9222:0.0:0.0778	.	.	.	.	X	472	.	ENSP00000354932:E472X	E	-	1	0	TLR1	38475434	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	3.728000	0.54991	1.303000	0.44873	0.650000	0.86243	GAA	TLR1	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000174125		0.388	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	365	0.00	0	C			38799039	38799039	-1	no_errors	ENST00000308979	ensembl	human	known	69_37n	nonsense	235	12.96	35	SNP	1.000	A
TLR1	7096	genome.wustl.edu	37	4	38800318	38800318	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:38800318C>A	ENST00000502213.2	-	3	364	c.135G>T	c.(133-135)caG>caT	p.Q45H	TLR1_ENST00000308979.2_Missense_Mutation_p.Q45H			Q15399	TLR1_HUMAN	toll-like receptor 1	45					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTTGTTTTCTGGGATAGGT	0.313																																					GBM(5;216 373 40795 46382)	dbGAP											0													80.0	88.0	85.0					4																	38800318		2198	4299	6497	-	-	-	SO:0001583	missense	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.135G>T	4.37:g.38800318C>A	ENSP00000421259:p.Gln45His	Somatic		WXS	Illumina GAIIx	Phase_IV	D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,prints_IL1_rcpt_1,pfscan_TIR_dom	p.Q45H	ENST00000502213.2	37	c.135	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141696	0.21205	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861;ENST00000506146	T;T;T;D;T	0.83591	2.23;2.23;4.3;-1.74;0.86	4.93	2.19	0.27852	.	1.015180	0.07900	N	0.972568	T	0.76926	0.4056	M	0.66939	2.045	0.09310	N	1	P	0.36483	0.555	B	0.32864	0.154	T	0.68648	-0.5353	10	0.66056	D	0.02	.	1.199	0.01880	0.1563:0.3182:0.3037:0.2217	.	45	Q15399	TLR1_HUMAN	H	45	ENSP00000354932:Q45H;ENSP00000421259:Q45H;ENSP00000421856:Q45H;ENSP00000423017:Q45H;ENSP00000423725:Q45H	ENSP00000354932:Q45H	Q	-	3	2	TLR1	38476713	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.930000	0.03972	0.744000	0.32741	-0.140000	0.14226	CAG	TLR1	-	pirsf_Toll-like_receptor	ENSG00000174125		0.313	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	163	0.00	0	C			38800318	38800318	-1	no_errors	ENST00000308979	ensembl	human	known	69_37n	missense	73	27.72	28	SNP	0.000	A
TLR5	7100	genome.wustl.edu	37	1	223283803	223283803	+	Silent	SNP	G	G	A	rs55902128	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:223283803G>A	ENST00000540964.1	-	4	3032	c.2571C>T	c.(2569-2571)atC>atT	p.I857I	TLR5_ENST00000342210.6_Silent_p.I857I			O60602	TLR5_HUMAN	toll-like receptor 5	857			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TTGATTAGGAGATGGTTGCTA	0.368													G|||	14	0.00279553	0.0	0.0	5008	,	,		20951	0.0		0.0	False		,,,				2504	0.0143					dbGAP											0													107.0	108.0	108.0					1																	223283803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2571C>T	1.37:g.223283803G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I857	ENST00000540964.1	37	c.2571	CCDS31033.1	1																																																																																			TLR5	-	NULL	ENSG00000187554		0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		123	0.00	0	G	NM_003268		223283803	223283803	-1	no_errors	ENST00000342210	ensembl	human	known	69_37n	silent	121	12.32	17	SNP	0.149	A
TLR5	7100	genome.wustl.edu	37	1	223285026	223285026	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:223285026G>T	ENST00000540964.1	-	4	1809	c.1348C>A	c.(1348-1350)Ctc>Atc	p.L450I	TLR5_ENST00000342210.6_Missense_Mutation_p.L450I			O60602	TLR5_HUMAN	toll-like receptor 5	450			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAATCTGGAGATGAGGTACC	0.413																																						dbGAP											0													84.0	87.0	86.0					1																	223285026		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1348C>A	1.37:g.223285026G>T	ENSP00000440643:p.Leu450Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L450I	ENST00000540964.1	37	c.1348	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327505	0.24080	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.60171	0.21;0.21;0.21	5.59	3.7	0.42460	.	0.131294	0.52532	D	0.000076	T	0.66025	0.2748	M	0.64170	1.965	0.27779	N	0.943228	P	0.35401	0.499	P	0.52646	0.705	T	0.60367	-0.7277	10	0.44086	T	0.13	.	8.1842	0.31328	0.1359:0.2439:0.6202:0.0	.	450	O60602	TLR5_HUMAN	I	450	ENSP00000440643:L450I;ENSP00000355846:L450I;ENSP00000340089:L450I	ENSP00000340089:L450I	L	-	1	0	TLR5	221351649	0.441000	0.25626	0.471000	0.27229	0.119000	0.20118	0.731000	0.26058	0.705000	0.31890	0.650000	0.86243	CTC	TLR5	-	NULL	ENSG00000187554		0.413	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	HGNC	protein_coding		139	0.00	0	G	NM_003268		223285026	223285026	-1	no_errors	ENST00000342210	ensembl	human	known	69_37n	missense	94	15.32	17	SNP	0.278	T
TLR7	51284	genome.wustl.edu	37	X	12904837	12904837	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:12904837C>T	ENST00000380659.3	+	3	1349	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	404					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L404I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGTTCTTGATCTTGGCACTAA	0.328																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											66.0	73.0	71.0					X																	12904837		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1210C>T	X.37:g.12904837C>T	ENSP00000370034:p.Leu404Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L404F	ENST00000380659.3	37	c.1210	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672052	0.29693	.	.	ENSG00000196664	ENST00000380659	T	0.61274	0.12	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000001	T	0.62624	0.2443	M	0.84156	2.68	0.54753	D	0.999986	B	0.26602	0.154	B	0.33042	0.157	T	0.65713	-0.6101	10	0.66056	D	0.02	.	9.5943	0.39565	0.0:0.8416:0.0:0.1584	.	404	Q9NYK1	TLR7_HUMAN	F	404	ENSP00000370034:L404F	ENSP00000370034:L404F	L	+	1	0	TLR7	12814758	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.242000	0.43106	2.434000	0.82447	0.600000	0.82982	CTT	TLR7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000196664		0.328	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	123	0.00	0	C	NM_016562		12904837	12904837	+1	no_errors	ENST00000380659	ensembl	human	known	69_37n	missense	62	25.30	21	SNP	1.000	T
TLR8	51311	genome.wustl.edu	37	X	12937808	12937808	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:12937808C>T	ENST00000218032.6	+	2	736	c.649C>T	c.(649-651)Cca>Tca	p.P217S	TLR8_ENST00000311912.5_Missense_Mutation_p.P235S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	217				P -> S (in Ref. 1; AAF64061). {ECO:0000305}.	cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTCACACGTGCCACCCAAACT	0.368																																						dbGAP											0													64.0	69.0	68.0					X																	12937808		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.649C>T	X.37:g.12937808C>T	ENSP00000218032:p.Pro217Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.P217S	ENST00000218032.6	37	c.649	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617565	0.46736	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.01178	5.22;5.22	4.93	4.93	0.64822	.	0.000000	0.40469	N	0.001086	T	0.06917	0.0176	M	0.72118	2.19	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07385	-1.0775	10	0.87932	D	0	.	17.4603	0.87618	0.0:1.0:0.0:0.0	.	217;235	Q9NR97;D1CS70	TLR8_HUMAN;.	S	217;235	ENSP00000218032:P217S;ENSP00000312082:P235S	ENSP00000218032:P217S	P	+	1	0	TLR8	12847729	1.000000	0.71417	0.953000	0.39169	0.024000	0.10985	4.750000	0.62162	2.048000	0.60808	0.523000	0.50628	CCA	TLR8	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000101916		0.368	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	76	0.00	0	C	NM_016610		12937808	12937808	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	1.000	T
TM4SF20	79853	genome.wustl.edu	37	2	228243838	228243838	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:228243838C>A	ENST00000304568.3	-	1	184	c.147G>T	c.(145-147)gaG>gaT	p.E49D		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGAACCACCACTCAAAGCAAG	0.418																																						dbGAP											0													106.0	107.0	106.0					2																	228243838		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.147G>T	2.37:g.228243838C>A	ENSP00000303028:p.Glu49Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	pfam_L6_membrane	p.E49D	ENST00000304568.3	37	c.147	CCDS2466.1	2	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875039	0.51695	.	.	ENSG00000168955	ENST00000304568	T	0.31769	1.48	5.77	1.85	0.25348	.	0.000000	0.64402	D	0.000001	T	0.50548	0.1622	M	0.75447	2.3	0.37911	D	0.931374	D	0.89917	1.0	D	0.87578	0.998	T	0.54234	-0.8324	10	0.66056	D	0.02	-19.2916	9.1538	0.36980	0.0:0.6741:0.0:0.3259	.	49	Q53R12	T4S20_HUMAN	D	49	ENSP00000303028:E49D	ENSP00000303028:E49D	E	-	3	2	TM4SF20	227952082	0.998000	0.40836	0.998000	0.56505	0.810000	0.45777	0.223000	0.17719	0.324000	0.23333	-0.229000	0.12294	GAG	TM4SF20	-	pfam_L6_membrane	ENSG00000168955		0.418	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF20	HGNC	protein_coding	OTTHUMT00000256896.2	99	0.00	0	C	NM_024795		228243838	228243838	-1	no_errors	ENST00000304568	ensembl	human	known	69_37n	missense	84	32.80	41	SNP	1.000	A
TM7SF3	51768	genome.wustl.edu	37	12	27132787	27132787	+	Silent	SNP	C	C	T	rs200513801		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:27132787C>T	ENST00000343028.4	-	9	1344	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S	TM7SF3_ENST00000542667.1_5'Flank|RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	373						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GCATGCAGATCGAGAGGATTC	0.483																																						dbGAP											0													196.0	148.0	164.0					12																	27132787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1119G>A	12.37:g.27132787C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMZ3|Q9NUS4	Missense_Mutation	SNP	NULL	p.D164N	ENST00000343028.4	37	c.490	CCDS8710.1	12																																																																																			TM7SF3	-	NULL	ENSG00000064115		0.483	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1	300	0.00	0	C	NM_016551		27132787	27132787	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535260	ensembl	human	known	69_37n	missense	234	17.19	49	SNP	0.001	T
TM9SF4	9777	genome.wustl.edu	37	20	30749159	30749159	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:30749159C>T	ENST00000398022.2	+	17	2005	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TM9SF4_ENST00000217315.5_Silent_p.F573F	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	590						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTTTATTTCGTTAACAAGG	0.502																																						dbGAP											0													168.0	144.0	152.0					20																	30749159		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1770C>T	20.37:g.30749159C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYT7|Q9NUA3	Silent	SNP	pfam_EMP70	p.F590	ENST00000398022.2	37	c.1770	CCDS13196.2	20																																																																																			TM9SF4	-	pfam_EMP70	ENSG00000101337		0.502	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	376	0.00	0	C	NM_014742		30749159	30749159	+1	no_errors	ENST00000398022	ensembl	human	known	69_37n	silent	286	14.11	47	SNP	1.000	T
TMC1	117531	genome.wustl.edu	37	9	75435981	75435981	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:75435981G>T	ENST00000297784.5	+	20	2527	c.1987G>T	c.(1987-1989)Gat>Tat	p.D663Y	TMC1_ENST00000340019.3_Missense_Mutation_p.D663Y|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.D663Y	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	663					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACCATCTTTTGATTGTGGTCC	0.453																																					Pancreas(75;173 1345 14232 34245 43413)	dbGAP											0													260.0	229.0	239.0					9																	75435981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1987G>T	9.37:g.75435981G>T	ENSP00000297784:p.Asp663Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.D663Y	ENST00000297784.5	37	c.1987	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446709	0.84101	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.68181	-0.31;-0.31;-0.31	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	L	0.52206	1.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79750	-0.1672	10	0.66056	D	0.02	-31.7857	19.9278	0.97110	0.0:0.0:1.0:0.0	.	630;630;663	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	Y	663;663;630;630;657;663	ENSP00000297784:D663Y;ENSP00000341433:D663Y;ENSP00000379538:D663Y	ENSP00000297784:D663Y	D	+	1	0	TMC1	74625801	1.000000	0.71417	0.977000	0.42913	0.930000	0.56654	9.789000	0.99068	2.770000	0.95276	0.650000	0.86243	GAT	TMC1	-	NULL	ENSG00000165091		0.453	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	273	0.00	0	G			75435981	75435981	+1	no_errors	ENST00000297784	ensembl	human	known	69_37n	missense	184	12.38	26	SNP	1.000	T
TMC2	117532	genome.wustl.edu	37	20	2542639	2542639	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:2542639G>A	ENST00000358864.1	+	4	552	c.537G>A	c.(535-537)aaG>aaA	p.K179K		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	179	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCATGGCGAAGAAGCTGACAG	0.597																																						dbGAP											0													48.0	45.0	46.0					20																	2542639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.537G>A	20.37:g.2542639G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.K179	ENST00000358864.1	37	c.537	CCDS13029.2	20																																																																																			TMC2	-	NULL	ENSG00000149488		0.597	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	113	0.00	0	G			2542639	2542639	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	silent	67	16.05	13	SNP	1.000	A
TMC2	117532	genome.wustl.edu	37	20	2582814	2582814	+	Missense_Mutation	SNP	G	G	T	rs370881578		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:2582814G>T	ENST00000358864.1	+	11	1295	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	427					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATCTGACAAGATTTCTTCGT	0.388																																						dbGAP											0													196.0	173.0	181.0					20																	2582814		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1280G>T	20.37:g.2582814G>T	ENSP00000351732:p.Arg427Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.R427I	ENST00000358864.1	37	c.1280	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190571	0.38707	.	.	ENSG00000149488	ENST00000358864	T	0.74002	-0.8	5.58	5.58	0.84498	.	0.299670	0.37809	N	0.001931	T	0.78175	0.4242	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.997;1.0;0.999	T	0.69877	-0.5026	10	0.05721	T	0.95	-23.5055	17.4555	0.87606	0.0:0.0:1.0:0.0	.	258;259;427;427	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	I	427	ENSP00000351732:R427I	ENSP00000351732:R427I	R	+	2	0	TMC2	2530814	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	AGA	TMC2	-	NULL	ENSG00000149488		0.388	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	679	0.00	0	G			2582814	2582814	+1	no_errors	ENST00000358864	ensembl	human	known	69_37n	missense	597	14.84	104	SNP	1.000	T
TMC3	342125	genome.wustl.edu	37	15	81637115	81637115	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:81637115C>T	ENST00000359440.5	-	13	1645	c.1510G>A	c.(1510-1512)Gtt>Att	p.V504I	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.V505I|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACCTGACCAACGTATGTCTCC	0.478																																						dbGAP											0													83.0	81.0	82.0					15																	81637115		1973	4149	6122	-	-	-	SO:0001583	missense	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1510G>A	15.37:g.81637115C>T	ENSP00000352413:p.Val504Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TMC	p.V504I	ENST00000359440.5	37	c.1510	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354015	0.82243	.	.	ENSG00000188869	ENST00000359440	T	0.67865	-0.29	4.37	4.37	0.52481	.	0.142711	0.46758	D	0.000261	T	0.70413	0.3221	L	0.58101	1.795	0.58432	D	0.99999	P;P	0.51537	0.733;0.946	B;P	0.50490	0.292;0.642	T	0.72567	-0.4254	10	0.44086	T	0.13	-25.8454	15.3008	0.73949	0.0:1.0:0.0:0.0	.	504;504	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	504	ENSP00000352413:V504I	ENSP00000352413:V504I	V	-	1	0	TMC3	79424170	1.000000	0.71417	0.930000	0.37139	0.803000	0.45373	6.585000	0.74062	2.244000	0.73946	0.655000	0.94253	GTT	TMC3	-	pfam_TMC	ENSG00000188869		0.478	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	157	0.00	0	C	NM_181841		81637115	81637115	-1	no_errors	ENST00000359440	ensembl	human	known	69_37n	missense	120	24.05	38	SNP	1.000	T
TMC3	342125	genome.wustl.edu	37	15	81637272	81637272	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:81637272C>A	ENST00000359440.5	-	13	1488	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E452D|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGACCATTTCTCTTCTTCAG	0.483																																						dbGAP											0													111.0	104.0	107.0					15																	81637272		1922	4133	6055	-	-	-	SO:0001583	missense	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1353G>T	15.37:g.81637272C>A	ENSP00000352413:p.Glu451Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TMC	p.E451D	ENST00000359440.5	37	c.1353	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	0.039	-1.291754	0.01375	.	.	ENSG00000188869	ENST00000359440	T	0.64085	-0.08	4.23	-1.33	0.09172	.	0.567931	0.16444	N	0.214145	T	0.31420	0.0796	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.12578	-1.0542	10	0.15499	T	0.54	-3.2165	3.6012	0.08026	0.1147:0.2953:0.4255:0.1645	.	451;451	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	D	451	ENSP00000352413:E451D	ENSP00000352413:E451D	E	-	3	2	TMC3	79424327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.452000	0.06787	-0.156000	0.11079	-0.291000	0.09656	GAG	TMC3	-	NULL	ENSG00000188869		0.483	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	429	0.00	0	C	NM_181841		81637272	81637272	-1	no_errors	ENST00000359440	ensembl	human	known	69_37n	missense	252	25.66	87	SNP	0.000	A
TMC7	79905	genome.wustl.edu	37	16	19020544	19020544	+	Missense_Mutation	SNP	C	C	T	rs200072588		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:19020544C>T	ENST00000304381.5	+	2	248	c.118C>T	c.(118-120)Ctc>Ttc	p.L40F	RNU6-1340P_ENST00000384438.1_RNA|TMC7_ENST00000569532.1_Missense_Mutation_p.L40F|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	40					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGTGAACTTCCTCCAAGAATT	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20539	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													111.0	109.0	110.0					16																	19020544		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.118C>T	16.37:g.19020544C>T	ENSP00000304710:p.Leu40Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.L40F	ENST00000304381.5	37	c.118	CCDS10573.1	16	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.7	4.027321	0.75390	.	.	ENSG00000170537	ENST00000304381	T	0.74632	-0.86	5.33	4.37	0.52481	.	0.074359	0.51477	D	0.000081	T	0.80476	0.4630	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	T	0.79070	-0.1954	10	0.39692	T	0.17	.	11.7161	0.51655	0.1766:0.8234:0.0:0.0	.	40;40;40	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	F	40	ENSP00000304710:L40F	ENSP00000304710:L40F	L	+	1	0	TMC7	18928045	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.846000	0.55888	1.361000	0.45981	0.650000	0.86243	CTC	TMC7	-	NULL	ENSG00000170537		0.478	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	139	0.00	0	C	NM_024847		19020544	19020544	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	missense	97	16.38	19	SNP	1.000	T
TMC7	79905	genome.wustl.edu	37	16	19020698	19020698	+	Missense_Mutation	SNP	G	G	A	rs139490833		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:19020698G>A	ENST00000304381.5	+	2	402	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	RNU6-1340P_ENST00000384438.1_RNA|TMC7_ENST00000569532.1_Missense_Mutation_p.R91Q|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	91					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CATTCTCTTCGAAATTATGCA	0.488																																						dbGAP											0													86.0	86.0	86.0					16																	19020698		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.272G>A	16.37:g.19020698G>A	ENSP00000304710:p.Arg91Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.R91Q	ENST00000304381.5	37	c.272	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	G	17.20	3.327989	0.60743	.	.	ENSG00000170537	ENST00000304381	T	0.60920	0.15	5.83	4.87	0.63330	.	0.266379	0.34200	N	0.004162	T	0.74359	0.3706	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.99	D;P;P	0.79784	0.993;0.557;0.611	T	0.77568	-0.2539	10	0.72032	D	0.01	.	12.9996	0.58667	0.0:0.1617:0.8383:0.0	.	91;91;91	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	Q	91	ENSP00000304710:R91Q	ENSP00000304710:R91Q	R	+	2	0	TMC7	18928199	0.971000	0.33674	0.777000	0.31699	0.081000	0.17604	4.930000	0.63462	1.453000	0.47775	0.655000	0.94253	CGA	TMC7	-	NULL	ENSG00000170537		0.488	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	91	0.00	0	G	NM_024847		19020698	19020698	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	missense	50	26.09	18	SNP	0.757	A
TMC7	79905	genome.wustl.edu	37	16	19051653	19051653	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:19051653T>C	ENST00000304381.5	+	9	1352	c.1222T>C	c.(1222-1224)Tat>Cat	p.Y408H	TMC7_ENST00000569532.1_Missense_Mutation_p.Y408H|TMC7_ENST00000421369.3_Missense_Mutation_p.Y298H	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	408					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTTCATATTGTATCTACCGTC	0.403																																						dbGAP											0													144.0	125.0	131.0					16																	19051653		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1222T>C	16.37:g.19051653T>C	ENSP00000304710:p.Tyr408His	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.Y408H	ENST00000304381.5	37	c.1222	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045803	0.75846	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.76839	-1.05;-1.05	4.46	4.46	0.54185	.	0.074251	0.56097	N	0.000032	D	0.88366	0.6417	M	0.86268	2.805	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.99	D	0.90201	0.4257	10	0.72032	D	0.01	.	13.7328	0.62799	0.0:0.0:0.0:1.0	.	408;408	Q7Z402;B3KSZ3	TMC7_HUMAN;.	H	408;298	ENSP00000304710:Y408H;ENSP00000397081:Y298H	ENSP00000304710:Y408H	Y	+	1	0	TMC7	18959154	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	7.972000	0.88022	1.646000	0.50622	0.341000	0.21757	TAT	TMC7	-	NULL	ENSG00000170537		0.403	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	581	0.00	0	T	NM_024847		19051653	19051653	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	missense	413	13.18	63	SNP	1.000	C
TMC7	79905	genome.wustl.edu	37	16	19056743	19056743	+	Silent	SNP	C	C	T	rs566960043		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:19056743C>T	ENST00000304381.5	+	11	1666	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	TMC7_ENST00000569532.1_Silent_p.F512F|TMC7_ENST00000421369.3_Silent_p.F402F	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	512					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGACACTCTTCGTGGATTTTC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		16908	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													141.0	116.0	124.0					16																	19056743		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1536C>T	16.37:g.19056743C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	pfam_TMC	p.F512	ENST00000304381.5	37	c.1536	CCDS10573.1	16																																																																																			TMC7	-	pfam_TMC	ENSG00000170537		0.493	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	103	0.00	0	C	NM_024847		19056743	19056743	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	silent	73	13.10	11	SNP	0.995	T
TMC8	147138	genome.wustl.edu	37	17	76131049	76131049	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:76131049G>T	ENST00000318430.5	+	9	1460	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	TMC8_ENST00000589691.1_Missense_Mutation_p.E139D|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	362					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCCAGCTGGAGAACTACCCTC	0.582																																						dbGAP											0													98.0	83.0	88.0					17																	76131049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1086G>T	17.37:g.76131049G>T	ENSP00000325561:p.Glu362Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.E362D	ENST00000318430.5	37	c.1086	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	g	14.81	2.645899	0.47258	.	.	ENSG00000167895	ENST00000318430	T	0.63580	-0.05	4.54	1.41	0.22369	.	0.166506	0.51477	D	0.000085	T	0.77329	0.4114	M	0.85462	2.755	0.34620	D	0.718553	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.918	T	0.81462	-0.0922	10	0.87932	D	0	-14.1004	9.3221	0.37971	0.2456:0.0:0.7544:0.0	.	362;362	A5D8Y4;Q8IU68	.;TMC8_HUMAN	D	362	ENSP00000325561:E362D	ENSP00000325561:E362D	E	+	3	2	TMC8	73642644	1.000000	0.71417	0.980000	0.43619	0.250000	0.25880	1.666000	0.37460	0.058000	0.16222	-0.215000	0.12644	GAG	TMC8	-	NULL	ENSG00000167895		0.582	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	47	0.00	0	G			76131049	76131049	+1	no_errors	ENST00000318430	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
TMCC3	57458	genome.wustl.edu	37	12	94975910	94975910	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:94975910C>A	ENST00000261226.4	-	2	614	c.483G>T	c.(481-483)aaG>aaT	p.K161N	TMCC3_ENST00000551457.1_Missense_Mutation_p.K130N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	161						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GATGTATATCCTTCAGGTGGT	0.498																																						dbGAP											0													99.0	102.0	101.0					12																	94975910		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.483G>T	12.37:g.94975910C>A	ENSP00000261226:p.Lys161Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.K161N	ENST00000261226.4	37	c.483	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401979	0.42613	.	.	ENSG00000057704	ENST00000261226;ENST00000551457;ENST00000548918	T;T	0.45668	0.89;0.89	4.39	4.39	0.52855	.	0.259681	0.44285	D	0.000466	T	0.41650	0.1168	L	0.43152	1.355	0.54753	D	0.999981	P	0.36683	0.565	P	0.44897	0.463	T	0.32295	-0.9912	10	0.54805	T	0.06	-43.7583	10.017	0.42020	0.0:0.8985:0.0:0.1015	.	161	Q9ULS5	TMCC3_HUMAN	N	161;130;130	ENSP00000261226:K161N;ENSP00000449888:K130N	ENSP00000261226:K161N	K	-	3	2	TMCC3	93500041	0.997000	0.39634	1.000000	0.80357	0.943000	0.58893	0.417000	0.21214	2.724000	0.93272	0.561000	0.74099	AAG	TMCC3	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000057704		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	62	0.00	0	C	NM_020698		94975910	94975910	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	missense	33	23.26	10	SNP	1.000	A
TMED2	10959	genome.wustl.edu	37	12	124081310	124081310	+	3'UTR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:124081310C>A	ENST00000262225.3	+	0	746				TMED2_ENST00000509052.2_3'UTR	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2						cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		ACTCAGAATTCACTGTTTACC	0.353																																						dbGAP											0													73.0	73.0	73.0					12																	124081310		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.*34C>A	12.37:g.124081310C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000262225.3	37	NULL	CCDS9250.1	12																																																																																			TMED2	-	-	ENSG00000086598		0.353	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED2	HGNC	protein_coding	OTTHUMT00000400606.1	138	0.00	0	C	NM_006815		124081310	124081310	+1	no_errors	ENST00000536875	ensembl	human	known	69_37n	rna	128	11.72	17	SNP	1.000	A
TMEFF1	8577	genome.wustl.edu	37	9	103310114	103310114	+	Nonsense_Mutation	SNP	C	C	T	rs149049994		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:103310114C>T	ENST00000374879.4	+	6	1081	c.649C>T	c.(649-651)Cga>Tga	p.R217*	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.S180L|TMEFF1_ENST00000334943.6_Nonsense_Mutation_p.R178*	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	217	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTGTTTTGTTCGAGAAGCATC	0.353																																						dbGAP											0													159.0	147.0	151.0					9																	103310114		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.649C>T	9.37:g.103310114C>T	ENSP00000364013:p.Arg217*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13086|Q8N3T8	Nonsense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom	p.R217*	ENST00000374879.4	37	c.649	CCDS6750.1	9	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	31|31	5.062935|5.062935	0.93898|0.93898	.|.	.|.	ENSG00000241697|ENSG00000251349	ENST00000334943;ENST00000374879|ENST00000502978	.|.	.|.	.|.	5.98|5.98	4.16|4.16	0.48862|0.48862	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63896	.|0.2550	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69676	.|-0.5081	.|3	0.07175|.	T|.	0.84|.	-19.3125|-19.3125	13.8478|13.8478	0.63479|0.63479	0.2786:0.7214:0.0:0.0|0.2786:0.7214:0.0:0.0	.|.	.|.	.|.	.|.	X|L	178;217|180	.|.	ENSP00000334447:R178X|.	R|S	+|+	1|2	2|0	TMEFF1|C9orf30-TMEFF1	102349935|102349935	0.898000|0.898000	0.30612|0.30612	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	0.904000|0.904000	0.28491|0.28491	0.875000|0.875000	0.35847|0.35847	-0.196000|-0.196000	0.12772|0.12772	CGA|TCG	TMEFF1	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	ENSG00000241697		0.353	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	HGNC	protein_coding	OTTHUMT00000053418.1	305	0.00	0	C	NM_003692		103310114	103310114	+1	no_errors	ENST00000374879	ensembl	human	known	69_37n	nonsense	178	14.42	30	SNP	0.998	T
TMEFF1	8577	genome.wustl.edu	37	9	103323702	103323702	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:103323702G>A	ENST00000374879.4	+	8	1231	c.799G>A	c.(799-801)Gtt>Att	p.V267I	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.C230Y|TMEFF1_ENST00000334943.6_Missense_Mutation_p.V228I	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	267					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AAGAGAAGATGTTTATATTGG	0.363																																						dbGAP											0													197.0	189.0	192.0					9																	103323702		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.799G>A	9.37:g.103323702G>A	ENSP00000364013:p.Val267Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13086|Q8N3T8	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom	p.V267I	ENST00000374879.4	37	c.799	CCDS6750.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.12|11.12	1.544157|1.544157	0.27563|0.27563	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.57907	.|0.39;0.37	5.34|5.34	4.33|4.33	0.51752|0.51752	.|.	.|0.382325	.|0.28082	.|N	.|0.016665	T|T	0.33265|0.33265	0.0857|0.0857	N|N	0.19112|0.19112	0.55|0.55	0.28416|0.28416	N|N	0.917951|0.917951	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.08055	.|0.003;0.0	T|T	0.09314|0.09314	-1.0680|-1.0680	5|10	.|0.25106	.|T	.|0.35	-56.5724|-56.5724	8.5929|8.5929	0.33699|0.33699	0.1414:0.0:0.8586:0.0|0.1414:0.0:0.8586:0.0	.|.	.|267;228	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	Y|I	230|228;267	.|ENSP00000334447:V228I;ENSP00000364013:V267I	.|ENSP00000334447:V228I	C|V	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102363523|102363523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.432000|3.432000	0.52824|0.52824	2.482000|2.482000	0.83794|0.83794	0.591000|0.591000	0.81541|0.81541	TGT|GTT	TMEFF1	-	NULL	ENSG00000241697		0.363	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	HGNC	protein_coding	OTTHUMT00000053418.1	508	0.00	0	G	NM_003692		103323702	103323702	+1	no_errors	ENST00000374879	ensembl	human	known	69_37n	missense	338	13.92	55	SNP	1.000	A
TMEFF2	23671	genome.wustl.edu	37	2	192863917	192863917	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:192863917T>G	ENST00000272771.5	-	6	1738	c.554A>C	c.(553-555)gAc>gCc	p.D185A	TMEFF2_ENST00000392314.1_Missense_Mutation_p.D185A|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	185	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTGAGAACAGTCAATATTACA	0.338																																					Pancreas(50;1277 1381 28487 47072)	dbGAP											0													101.0	97.0	98.0					2																	192863917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.554A>C	2.37:g.192863917T>G	ENSP00000272771:p.Asp185Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom	p.D185A	ENST00000272771.5	37	c.554	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509098	0.64410	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.12147	2.71;2.71	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);	0.203838	0.51477	D	0.000098	T	0.24122	0.0584	L	0.31420	0.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05084	-1.0907	10	0.11182	T	0.66	-23.1048	16.3426	0.83092	0.0:0.0:0.0:1.0	.	185	Q9UIK5	TEFF2_HUMAN	A	185	ENSP00000376128:D185A;ENSP00000272771:D185A	ENSP00000272771:D185A	D	-	2	0	TMEFF2	192572162	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	7.655000	0.83696	2.317000	0.78254	0.460000	0.39030	GAC	TMEFF2	-	pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	ENSG00000144339		0.338	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	147	0.00	0	T	NM_016192		192863917	192863917	-1	no_errors	ENST00000272771	ensembl	human	known	69_37n	missense	82	18.00	18	SNP	1.000	G
TMEM117	84216	genome.wustl.edu	37	12	44338119	44338119	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:44338119G>A	ENST00000266534.3	+	3	511	c.384G>A	c.(382-384)acG>acA	p.T128T	TMEM117_ENST00000536799.1_Missense_Mutation_p.D58N|TMEM117_ENST00000551577.1_Silent_p.T128T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	128						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATACAACACGATTCTTCTAA	0.368																																						dbGAP											0													215.0	200.0	205.0					12																	44338119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.384G>A	12.37:g.44338119G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D58N	ENST00000266534.3	37	c.172	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492710	0.64074	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.51	0.473	0.16763	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.20821	N	0.999847	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	7	0.87932	D	0	-4.721	5.62	0.17451	0.204:0.2749:0.5211:0.0	.	58	F5H3Q2	.	N	58	.	ENSP00000445243:D58N	D	+	1	0	TMEM117	42624386	0.402000	0.25311	0.985000	0.45067	0.675000	0.39556	-0.350000	0.07721	-0.122000	0.11766	0.591000	0.81541	GAT	TMEM117	-	NULL	ENSG00000139173		0.368	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	357	0.00	0	G	NM_032256		44338119	44338119	+1	no_errors	ENST00000536799	ensembl	human	known	69_37n	missense	218	26.17	78	SNP	0.999	A
TMEM126B	55863	genome.wustl.edu	37	11	85345190	85345190	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:85345190C>A	ENST00000358867.6	+	3	287	c.264C>A	c.(262-264)ttC>ttA	p.F88L	TMEM126B_ENST00000534341.1_Missense_Mutation_p.F88L|TMEM126B_ENST00000393375.1_Missense_Mutation_p.F58L	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	88						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTGGAATATTCTCAAACTTCC	0.353																																						dbGAP											0													163.0	144.0	151.0					11																	85345190		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.264C>A	11.37:g.85345190C>A	ENSP00000351737:p.Phe88Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	pfam_DUF1370_TMEM126	p.F88L	ENST00000358867.6	37	c.264	CCDS8267.2	11	.	.	.	.	.	.	.	.	.	.	C	0.571	-0.841179	0.02692	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375;ENST00000531274	T;T;T	0.26373	1.74;1.74;1.74	5.35	0.149	0.14863	.	0.387498	0.27214	N	0.020389	T	0.05410	0.0143	N	0.01109	-1.01	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.29731	-1.0002	9	.	.	.	.	1.4746	0.02423	0.3041:0.1437:0.4158:0.1363	.	88;58	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	L	88;88;58;40	ENSP00000351737:F88L;ENSP00000433471:F88L;ENSP00000377039:F58L	.	F	+	3	2	TMEM126B	85022838	0.857000	0.29778	0.142000	0.22268	0.001000	0.01503	0.117000	0.15583	0.099000	0.17552	-1.053000	0.02334	TTC	TMEM126B	-	pfam_DUF1370_TMEM126	ENSG00000171204		0.353	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM126B	HGNC	protein_coding	OTTHUMT00000392164.1	279	0.00	0	C	NM_018480		85345190	85345190	+1	no_errors	ENST00000358867	ensembl	human	known	69_37n	missense	229	13.58	36	SNP	0.066	A
TMEM128	85013	genome.wustl.edu	37	4	4247948	4247948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:4247948C>A	ENST00000382753.4	-	2	229	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	TMEM128_ENST00000254742.2_Nonsense_Mutation_p.E50*|TMEM128_ENST00000540397.1_Nonsense_Mutation_p.E74*|TMEM128_ENST00000538516.1_Nonsense_Mutation_p.E74*			Q5BJH2	TM128_HUMAN	transmembrane protein 128	74						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TGGAAGTTTTCTTTAAGGGTT	0.318																																						dbGAP											0													84.0	92.0	89.0					4																	4247948		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.220G>T	4.37:g.4247948C>A	ENSP00000372201:p.Glu74*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHS7|D3DVS3|Q5H9U6|Q96I94	Nonsense_Mutation	SNP	NULL	p.E74*	ENST00000382753.4	37	c.220		4	.	.	.	.	.	.	.	.	.	.	C	37	6.104309	0.97286	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	.	.	.	5.69	5.69	0.88448	.	0.217347	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-20.4108	18.5771	0.91159	0.0:1.0:0.0:0.0	.	.	.	.	X	50;74;74;74	.	ENSP00000254742:E50X	E	-	1	0	TMEM128	4298849	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	6.155000	0.71833	2.682000	0.91365	0.655000	0.94253	GAA	TMEM128	-	NULL	ENSG00000132406		0.318	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	TMEM128	HGNC	protein_coding	OTTHUMT00000246798.2	181	0.00	0	C	NM_032927		4247948	4247948	-1	no_errors	ENST00000382753	ensembl	human	known	69_37n	nonsense	67	51.43	72	SNP	1.000	A
TMEM131	23505	genome.wustl.edu	37	2	98392342	98392342	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:98392342C>A	ENST00000186436.5	-	32	4512	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1428	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTTGGAGGTCTCTGTGGTGG	0.517																																						dbGAP											0													167.0	179.0	175.0					2																	98392342		2042	4204	6246	-	-	-	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4284G>T	2.37:g.98392342C>A	ENSP00000186436:p.Glu1428Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.E1428D	ENST00000186436.5	37	c.4284	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976456	0.74360	.	.	ENSG00000075568	ENST00000186436	T	0.25250	1.81	5.22	1.99	0.26369	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.15263	-1.0443	10	0.27082	T	0.32	-14.805	5.4173	0.16380	0.0:0.3953:0.0:0.6047	.	1428	Q92545	TM131_HUMAN	D	1428	ENSP00000186436:E1428D	ENSP00000186436:E1428D	E	-	3	2	TMEM131	97758774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.469000	0.35343	0.594000	0.29761	0.655000	0.94253	GAG	TMEM131	-	NULL	ENSG00000075568		0.517	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	702	0.00	0	C	XM_371542		98392342	98392342	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	missense	461	14.15	76	SNP	1.000	A
TMEM131	23505	genome.wustl.edu	37	2	98418928	98418928	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:98418928A>G	ENST00000186436.5	-	24	2842	c.2614T>C	c.(2614-2616)Tcc>Ccc	p.S872P		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	872						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGTTGGAATATAAAGCC	0.313																																						dbGAP											0													106.0	103.0	104.0					2																	98418928		1830	4088	5918	-	-	-	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2614T>C	2.37:g.98418928A>G	ENSP00000186436:p.Ser872Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S872P	ENST00000186436.5	37	c.2614	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380879	0.24944	.	.	ENSG00000075568	ENST00000186436	T	0.27402	1.67	5.8	5.8	0.92144	.	0.109269	0.64402	D	0.000004	T	0.21674	0.0522	L	0.31207	0.915	0.80722	D	1	B	0.15719	0.014	B	0.11329	0.006	T	0.07309	-1.0779	10	0.02654	T	1	-14.8891	16.1464	0.81575	1.0:0.0:0.0:0.0	.	872	Q92545	TM131_HUMAN	P	872	ENSP00000186436:S872P	ENSP00000186436:S872P	S	-	1	0	TMEM131	97785360	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.174000	0.77620	2.220000	0.72140	0.383000	0.25322	TCC	TMEM131	-	NULL	ENSG00000075568		0.313	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	147	0.00	0	A	XM_371542		98418928	98418928	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	missense	121	12.95	18	SNP	1.000	G
TMEM132D	121256	genome.wustl.edu	37	12	129558461	129558461	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:129558461C>T	ENST00000422113.2	-	9	3585	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E625K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1087					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTGCAGCTCTTTGCAGTCC	0.502																																						dbGAP											0													200.0	172.0	182.0					12																	129558461		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3259G>A	12.37:g.129558461C>T	ENSP00000408581:p.Glu1087Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.E1087K	ENST00000422113.2	37	c.3259	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957837	0.73902	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.15718	2.4;3.1	4.22	2.28	0.28536	.	0.507161	0.19148	N	0.121525	T	0.37237	0.0996	M	0.86178	2.8	0.25647	N	0.986135	P;P	0.50369	0.649;0.934	B;P	0.53649	0.23;0.731	T	0.31613	-0.9937	9	.	.	.	-9.2599	13.8952	0.63766	0.0:0.7079:0.2921:0.0	.	1087;625	Q14C87;Q14C87-2	T132D_HUMAN;.	K	625;1087	ENSP00000374092:E625K;ENSP00000408581:E1087K	.	E	-	1	0	TMEM132D	128124414	0.985000	0.35326	0.000000	0.03702	0.009000	0.06853	3.749000	0.55150	0.298000	0.22638	0.563000	0.77884	GAG	TMEM132D	-	NULL	ENSG00000151952		0.502	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	331	0.00	0	C	NM_133448		129558461	129558461	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	missense	305	13.56	48	SNP	0.239	T
TMEM132D	121256	genome.wustl.edu	37	12	129566556	129566556	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:129566556C>A	ENST00000422113.2	-	7	1997	c.1671G>T	c.(1669-1671)gaG>gaT	p.E557D	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E95D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	557					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E557E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATCCTCCTCCTCTTCACTGT	0.642																																						dbGAP											1	Substitution - coding silent(1)	ovary(1)											46.0	49.0	48.0					12																	129566556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1671G>T	12.37:g.129566556C>A	ENSP00000408581:p.Glu557Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.E557D	ENST00000422113.2	37	c.1671	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.915127	0.00503	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.12039	2.72;2.72	4.61	-9.22	0.00675	.	0.405233	0.24352	N	0.039267	T	0.02767	0.0083	N	0.01535	-0.81	0.20307	N	0.999918	B;B	0.15473	0.001;0.013	B;B	0.16722	0.003;0.016	T	0.27640	-1.0068	9	.	.	.	-31.1004	8.186	0.31339	0.1497:0.5601:0.1947:0.0955	.	557;95	Q14C87;Q14C87-2	T132D_HUMAN;.	D	95;557	ENSP00000374092:E95D;ENSP00000408581:E557D	.	E	-	3	2	TMEM132D	128132509	0.003000	0.15002	0.341000	0.25589	0.154000	0.21943	-0.939000	0.03933	-2.232000	0.00717	-0.340000	0.08031	GAG	TMEM132D	-	NULL	ENSG00000151952		0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	40	0.00	0	C	NM_133448		129566556	129566556	-1	no_errors	ENST00000422113	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	0.041	A
TMEM136	219902	genome.wustl.edu	37	11	120201149	120201149	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:120201149G>T	ENST00000375095.2	+	3	904	c.663G>T	c.(661-663)aaG>aaT	p.K221N	TMEM136_ENST00000314475.2_Missense_Mutation_p.K243N|TMEM136_ENST00000529187.1_Missense_Mutation_p.K124N|TMEM136_ENST00000531346.1_3'UTR	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	221						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		AGAGCATCAAGAAGTACCATG	0.498																																						dbGAP											0													177.0	144.0	155.0					11																	120201149		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.663G>T	11.37:g.120201149G>T	ENSP00000364236:p.Lys221Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.K243N	ENST00000375095.2	37	c.729	CCDS55793.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000145	0.74818	.	.	ENSG00000181264	ENST00000375095;ENST00000314475;ENST00000529187	.	.	.	6.06	4.21	0.49690	TRAM/LAG1/CLN8 homology domain (1);	0.100995	0.64402	D	0.000001	T	0.54127	0.1839	L	0.56769	1.78	0.24908	N	0.992069	D;B;B;D	0.61697	0.99;0.138;0.07;0.99	P;B;B;P	0.59487	0.744;0.037;0.021;0.858	T	0.48843	-0.8999	9	0.51188	T	0.08	-7.4121	11.7869	0.52047	0.194:0.0:0.806:0.0	.	102;243;221;124	Q6ZRR5-2;Q6ZRR5-3;Q6ZRR5;Q6ZRR5-4	.;.;TM136_HUMAN;.	N	221;243;124	.	ENSP00000312672:K243N	K	+	3	2	TMEM136	119706359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.751000	0.38339	0.896000	0.36366	0.655000	0.94253	AAG	TMEM136	-	smart_TLC-dom	ENSG00000181264		0.498	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM136	HGNC	protein_coding	OTTHUMT00000388045.1	256	0.00	0	G	NM_174926		120201149	120201149	+1	no_errors	ENST00000314475	ensembl	human	known	69_37n	missense	142	26.80	52	SNP	1.000	T
TMEM169	92691	genome.wustl.edu	37	2	216964905	216964905	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:216964905C>A	ENST00000295658.4	+	3	741	c.534C>A	c.(532-534)gtC>gtA	p.V178V	TMEM169_ENST00000437356.2_Silent_p.V178V|TMEM169_ENST00000406027.2_Silent_p.V178V|TMEM169_ENST00000454545.1_Silent_p.V178V	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	178						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTTGTTGTCTCTTTCTACT	0.512																																						dbGAP											0													254.0	219.0	231.0					2																	216964905		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.534C>A	2.37:g.216964905C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8W6	Silent	SNP	NULL	p.V178	ENST00000295658.4	37	c.534	CCDS2401.1	2																																																																																			TMEM169	-	NULL	ENSG00000163449		0.512	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	HGNC	protein_coding	OTTHUMT00000256666.2	1070	0.09	1	C	NM_138390		216964905	216964905	+1	no_errors	ENST00000295658	ensembl	human	known	69_37n	silent	1050	13.43	163	SNP	1.000	A
TMEM176B	28959	genome.wustl.edu	37	7	150493481	150493481	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:150493481C>A	ENST00000447204.2	-	2	549	c.177G>T	c.(175-177)agG>agT	p.R59S	TMEM176B_ENST00000434545.1_Missense_Mutation_p.R59S|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R59S|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R59S|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R59S|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R59S	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	59					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAACCAATCCTGGCTGTGG	0.512																																						dbGAP											0													63.0	62.0	63.0					7																	150493481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.177G>T	7.37:g.150493481C>A	ENSP00000410269:p.Arg59Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.R59S	ENST00000447204.2	37	c.177	CCDS5908.1	7	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324850	0.24080	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.08370	3.24;3.24;3.24;3.24;3.24;3.1	4.92	2.02	0.26589	.	.	.	.	.	T	0.07279	0.0184	L	0.38838	1.175	0.09310	N	1	B;B	0.29612	0.251;0.134	B;B	0.31547	0.132;0.03	T	0.34725	-0.9817	9	0.56958	D	0.05	-11.6018	5.1476	0.14993	0.0:0.6315:0.1692:0.1993	.	59;59	E9PAV4;Q3YBM2	.;T176B_HUMAN	S	59	ENSP00000419258:R59S;ENSP00000318409:R59S;ENSP00000410269:R59S;ENSP00000413531:R59S;ENSP00000397810:R59S;ENSP00000404831:R59S	ENSP00000318409:R59S	R	-	3	2	TMEM176B	150124414	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	-0.688000	0.05150	0.459000	0.27016	0.467000	0.42956	AGG	TMEM176B	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.512	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	106	0.00	0	C	NM_014020		150493481	150493481	-1	no_errors	ENST00000326442	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	0.005	A
TMEM178A	130733	genome.wustl.edu	37	2	39944471	39944471	+	3'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:39944471G>A	ENST00000281961.2	+	0	1030				TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A							integral component of membrane (GO:0016021)											AGCACAAAGCGGTCTTTTACA	0.527																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.*80G>A	2.37:g.39944471G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWI6|Q8N6N4	RNA	SNP	-	NULL	ENST00000281961.2	37	NULL	CCDS1804.1	2																																																																																			TMEM178A	-	-	ENSG00000152154		0.527	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM178A	HGNC	protein_coding	OTTHUMT00000250445.2	154	0.00	0	G	NM_152390		39944471	39944471	+1	no_errors	ENST00000482239	ensembl	human	known	69_37n	rna	134	13.46	21	SNP	0.000	A
TMEM185A	84548	genome.wustl.edu	37	X	148690404	148690404	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:148690404G>T	ENST00000316916.8	-	3	637	c.333C>A	c.(331-333)ttC>ttA	p.F111L	TMEM185A_ENST00000507237.1_Missense_Mutation_p.F111L|TMEM185A_ENST00000536359.1_Missense_Mutation_p.F52L	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	111						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAGGAGCCAGAAATGGCTTC	0.493																																						dbGAP											0													182.0	171.0	174.0					X																	148690404		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.333C>A	X.37:g.148690404G>T	ENSP00000359449:p.Phe111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	pfam_TM_Fragile-X-F-assoc	p.F111L	ENST00000316916.8	37	c.333	CCDS14689.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.615206|1.615206	0.28712|0.28712	.|.	.|.	ENSG00000155984|ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776|ENST00000502858	T;T;T;T|.	0.20200|.	2.09;2.09;2.09;2.09|.	5.46|5.46	3.67|3.67	0.42095|0.42095	.|.	0.047828|.	0.85682|.	D|.	0.000000|.	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.10782|0.10782	0.045|0.045	0.58432|0.58432	D|D	0.999994|0.999994	B;B;B|.	0.06786|.	0.001;0.0;0.0|.	B;B;B|.	0.09377|.	0.004;0.002;0.001|.	T|T	0.08973|0.08973	-1.0696|-1.0696	10|5	0.08179|.	T|.	0.78|.	-16.1487|-16.1487	10.275|10.275	0.43504|0.43504	0.2318:0.0:0.7682:0.0|0.2318:0.0:0.7682:0.0	.|.	111;52;111|.	Q8NFB2;F5H5U0;E7EMM1|.	T185A_HUMAN;.;.|.	L|Y	111;52;111;52|12	ENSP00000359449:F111L;ENSP00000443119:F52L;ENSP00000427766:F111L;ENSP00000428659:F52L|.	ENSP00000359449:F111L|.	F|S	-|-	3|2	2|0	TMEM185A|TMEM185A	148498200|148498200	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.247000|5.247000	0.65416|0.65416	1.069000|1.069000	0.40788|0.40788	0.513000|0.513000	0.50165|0.50165	TTC|TCT	TMEM185A	-	pfam_TM_Fragile-X-F-assoc	ENSG00000155984		0.493	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM185A	HGNC	protein_coding	OTTHUMT00000058710.4	216	0.00	0	G	NM_032508		148690404	148690404	-1	no_errors	ENST00000316916	ensembl	human	known	69_37n	missense	185	13.55	29	SNP	1.000	T
TMEM2	23670	genome.wustl.edu	37	9	74315578	74315578	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:74315578G>T	ENST00000377044.4	-	19	3896	c.3357C>A	c.(3355-3357)ttC>ttA	p.F1119L	TMEM2_ENST00000377066.5_Missense_Mutation_p.F1056L|TMEM2_ENST00000396272.3_Missense_Mutation_p.F112L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1119					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGTCAAAATAGAATTTCCTCT	0.418																																						dbGAP											0													105.0	96.0	99.0					9																	74315578		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3357C>A	9.37:g.74315578G>T	ENSP00000366243:p.Phe1119Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.F1119L	ENST00000377044.4	37	c.3357	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420425	0.83559	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055	T;T;T;T	0.39997	1.1;1.1;1.1;1.05	6.17	6.17	0.99709	.	0.045261	0.85682	D	0.000000	T	0.50137	0.1598	L	0.61387	1.9	0.48830	D	0.99971	P;D	0.54964	0.948;0.969	P;P	0.52031	0.49;0.688	T	0.52586	-0.8556	10	0.72032	D	0.01	.	9.6433	0.39853	0.1143:0.0:0.8857:0.0	.	1119;1056	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1119;1056;112;148	ENSP00000366243:F1119L;ENSP00000366266:F1056L;ENSP00000379569:F112L;ENSP00000366254:F148L	ENSP00000366243:F1119L	F	-	3	2	TMEM2	73505398	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.546000	0.53656	2.941000	0.99782	0.655000	0.94253	TTC	TMEM2	-	NULL	ENSG00000135048		0.418	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	275	0.00	0	G	NM_013390		74315578	74315578	-1	no_errors	ENST00000377044	ensembl	human	known	69_37n	missense	210	13.93	34	SNP	1.000	T
TMEM2	23670	genome.wustl.edu	37	9	74340596	74340596	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:74340596C>T	ENST00000377044.4	-	11	2618	c.2079G>A	c.(2077-2079)aaG>aaA	p.K693K	TMEM2_ENST00000377066.5_Silent_p.K630K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	693					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAGTTGGTTCCTTGTGGAATA	0.373																																						dbGAP											0													77.0	80.0	79.0					9																	74340596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2079G>A	9.37:g.74340596C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.K693	ENST00000377044.4	37	c.2079	CCDS6638.1	9																																																																																			TMEM2	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000135048		0.373	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	297	0.00	0	C	NM_013390		74340596	74340596	-1	no_errors	ENST00000377044	ensembl	human	known	69_37n	silent	202	22.01	57	SNP	1.000	T
TMEM212	389177	genome.wustl.edu	37	3	171561300	171561300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:171561300C>T	ENST00000334567.5	+	1	162	c.127C>T	c.(127-129)Cga>Tga	p.R43*		NM_001164436.1	NP_001157908.1	A6NML5	TM212_HUMAN	transmembrane protein 212	43						integral component of membrane (GO:0016021)				endometrium(1)	1						ATGGAGTGTTCGAATTGCTTG	0.398																																						dbGAP											0													290.0	233.0	250.0					3																	171561300		692	1591	2283	-	-	-	SO:0001587	stop_gained	0				CCDS46958.1	3q26.31	2010-06-22			ENSG00000186329	ENSG00000186329			34295	protein-coding gene	gene with protein product							Standard	NM_001164436		Approved	FLJ23172	uc003fhw.2	A6NML5	OTTHUMG00000156839	ENST00000334567.5:c.127C>T	3.37:g.171561300C>T	ENSP00000334072:p.Arg43*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_CD20-like	p.R43*	ENST00000334567.5	37	c.127	CCDS46958.1	3	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876652	0.91664	.	.	ENSG00000186329	ENST00000334567	.	.	.	4.53	-2.62	0.06152	.	1.101510	0.06968	N	0.817592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.3141	12.3351	0.55062	0.0:0.7444:0.0:0.2556	.	.	.	.	X	43	.	ENSP00000334072:R43X	R	+	1	2	TMEM212	173043994	0.041000	0.20044	0.649000	0.29536	0.865000	0.49528	0.001000	0.13038	-0.349000	0.08274	-0.262000	0.10625	CGA	TMEM212	-	pfam_CD20-like	ENSG00000186329		0.398	TMEM212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM212	HGNC	protein_coding	OTTHUMT00000346158.1	1072	0.09	1	C			171561300	171561300	+1	no_errors	ENST00000334567	ensembl	human	known	69_37n	nonsense	619	27.18	231	SNP	0.519	T
TMEM30A	55754	genome.wustl.edu	37	6	75968580	75968580	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:75968580G>A	ENST00000230461.6	-	6	1137	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	TMEM30A_ENST00000370050.5_Missense_Mutation_p.R151C|TMEM30A_ENST00000475111.2_Missense_Mutation_p.R234C	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	270					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R270C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TACAACTTGCGAAAAGTAGGT	0.373																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											107.0	101.0	103.0					6																	75968580		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.808C>T	6.37:g.75968580G>A	ENSP00000230461:p.Arg270Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.R270C	ENST00000230461.6	37	c.808	CCDS4983.1	6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418713	0.83559	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91003	0.4844	9	0.87932	D	0	.	14.3308	0.66556	0.0:0.0:0.8516:0.1484	.	234;270	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	C	270;254;151;234	.	ENSP00000230461:R270C	R	-	1	0	TMEM30A	76025300	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.983000	0.70540	2.605000	0.88082	0.591000	0.81541	CGC	TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	ENSG00000112697		0.373	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	185	0.00	0	G	NM_018247		75968580	75968580	-1	no_errors	ENST00000230461	ensembl	human	known	69_37n	missense	83	35.66	46	SNP	1.000	A
TMEM242	729515	genome.wustl.edu	37	6	157714019	157714019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:157714019G>A	ENST00000400788.4	-	4	441	c.340C>T	c.(340-342)Cga>Tga	p.R114*	snoU13_ENST00000516800.1_RNA	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	114						integral component of membrane (GO:0016021)											ATTTTACTTCGAAAGTCGTTC	0.368																																						dbGAP											0													140.0	129.0	132.0					6																	157714019		1826	4088	5914	-	-	-	SO:0001587	stop_gained	0			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.340C>T	6.37:g.157714019G>A	ENSP00000383594:p.Arg114*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD0|Q9NZ88|Q9P094	Nonsense_Mutation	SNP	pfam_DUF1358	p.R114*	ENST00000400788.4	37	c.340	CCDS43519.1	6	.	.	.	.	.	.	.	.	.	.	g	36	5.785641	0.96937	.	.	ENSG00000215712	ENST00000400788	.	.	.	5.87	5.87	0.94306	.	0.153481	0.39759	N	0.001280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9972	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000383594:R114X	R	-	1	2	C6orf35	157634007	0.999000	0.42202	1.000000	0.80357	0.890000	0.51754	3.237000	0.51344	1.149000	0.42402	0.533000	0.62120	CGA	TMEM242	-	pfam_DUF1358	ENSG00000215712		0.368	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM242	HGNC	protein_coding	OTTHUMT00000042837.2	293	0.00	0	G			157714019	157714019	-1	no_errors	ENST00000400788	ensembl	human	known	69_37n	nonsense	167	16.50	33	SNP	1.000	A
TMEM31	203562	genome.wustl.edu	37	X	102968726	102968726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:102968726G>T	ENST00000319560.6	+	3	498	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	103						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GGTGTTTAAAGAAGCCTTCCA	0.463																																						dbGAP											0													222.0	179.0	194.0					X																	102968726		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.307G>T	X.37:g.102968726G>T	ENSP00000316940:p.Glu103*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHR4	Nonsense_Mutation	SNP	NULL	p.E103*	ENST00000319560.6	37	c.307	CCDS35359.1	X	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982596	0.53827	.	.	ENSG00000179363	ENST00000319560	.	.	.	4.7	2.85	0.33270	.	0.192908	0.25657	N	0.029173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.2277	4.5395	0.12050	0.1191:0.0:0.6622:0.2187	.	.	.	.	X	103	.	ENSP00000316940:E103X	E	+	1	0	TMEM31	102855382	1.000000	0.71417	0.703000	0.30354	0.180000	0.23129	1.096000	0.30976	0.470000	0.27294	0.594000	0.82650	GAA	TMEM31	-	NULL	ENSG00000179363		0.463	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM31	HGNC	protein_coding	OTTHUMT00000057741.1	836	0.00	0	G	NM_182541		102968726	102968726	+1	no_errors	ENST00000319560	ensembl	human	known	69_37n	nonsense	582	13.63	92	SNP	0.916	T
TMEM45A	55076	genome.wustl.edu	37	3	100295903	100295903	+	3'UTR	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:100295903T>G	ENST00000323523.4	+	0	1182				TMEM45A_ENST00000403410.1_3'UTR	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ACCTTTTCTTTTTTACATTGT	0.353																																						dbGAP											0													40.0	45.0	43.0					3																	100295903		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.*41T>G	3.37:g.100295903T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YW5	RNA	SNP	-	NULL	ENST00000323523.4	37	NULL	CCDS2937.1	3																																																																																			TMEM45A	-	-	ENSG00000181458		0.353	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	HGNC	protein_coding	OTTHUMT00000317571.1	173	0.00	0	T	NM_018004		100295903	100295903	+1	no_errors	ENST00000488904	ensembl	human	known	69_37n	rna	119	18.92	28	SNP	0.153	G
TMEM44	93109	genome.wustl.edu	37	3	194336413	194336413	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:194336413G>A	ENST00000392432.2	-	8	1143	c.938C>T	c.(937-939)tCg>tTg	p.S313L	TMEM44_ENST00000473092.1_Missense_Mutation_p.S266L|TMEM44_ENST00000347147.4_Missense_Mutation_p.S266L|TMEM44_ENST00000273580.7_Missense_Mutation_p.S266L|TMEM44_ENST00000381975.3_Missense_Mutation_p.S266L	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	313						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CATCACACACGAAAGGAAAAT	0.517																																						dbGAP											0													185.0	181.0	182.0					3																	194336413		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.938C>T	3.37:g.194336413G>A	ENSP00000376227:p.Ser313Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	NULL	p.S313L	ENST00000392432.2	37	c.938	CCDS54699.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159169	0.78226	.	.	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000432352;ENST00000347147;ENST00000381975;ENST00000473092	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	4.78	4.78	0.61160	.	0.215967	0.31760	N	0.007102	T	0.58380	0.2118	M	0.64997	1.995	0.45427	D	0.998401	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.996;0.996;0.995;0.996	T	0.52734	-0.8536	10	0.20519	T	0.43	-21.4746	13.6917	0.62550	0.0:0.0:1.0:0.0	.	266;313;266;266;266	E9PGA9;Q2T9K0;Q2T9K0-4;Q2T9K0-2;Q2T9K0-6	.;TMM44_HUMAN;.;.;.	L	313;266;24;266;266;266	ENSP00000376227:S313L;ENSP00000273580:S266L;ENSP00000409963:S24L;ENSP00000333355:S266L;ENSP00000371402:S266L;ENSP00000418674:S266L	ENSP00000273580:S266L	S	-	2	0	TMEM44	195817702	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.289000	0.51747	2.370000	0.80446	0.491000	0.48974	TCG	TMEM44	-	NULL	ENSG00000145014		0.517	TMEM44-002	KNOWN	basic|CCDS	protein_coding	TMEM44	HGNC	protein_coding	OTTHUMT00000342750.1	147	0.68	1	G	NM_138399		194336413	194336413	-1	no_errors	ENST00000392432	ensembl	human	known	69_37n	missense	141	15.88	27	SNP	1.000	A
NDC1	55706	genome.wustl.edu	37	1	54252911	54252911	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:54252911C>T	ENST00000371429.3	-	16	2318	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	NDC1_ENST00000537333.1_Missense_Mutation_p.A239T|NDC1_ENST00000234725.8_Missense_Mutation_p.A459T|NDC1_ENST00000540001.1_Missense_Mutation_p.S537N	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	574					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										GTAAATGATGCTGCTACTAAG	0.368																																						dbGAP											0													152.0	154.0	153.0					1																	54252911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1720G>A	1.37:g.54252911C>T	ENSP00000360483:p.Ala574Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	pfam_Nucleoporin_prot_Ndc1/Nup	p.A574T	ENST00000371429.3	37	c.1720	CCDS583.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.346288|4.346288	0.82022|0.82022	.|.	.|.	ENSG00000058804|ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725|ENST00000540001	T;T;T|T	0.51071|0.49432	0.72;0.72;0.72|0.78	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60090|0.60090	0.2242|0.2242	M|M	0.66939|0.66939	2.045|2.045	0.23425|0.23425	N|N	0.997701|0.997701	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.55964|0.55964	-0.8057|-0.8057	10|7	0.22706|0.87932	T|D	0.39|0	.|.	15.0352|15.0352	0.71741|0.71741	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	534;574|.	B4DHA3;Q9BTX1|.	.;NDC1_HUMAN|.	T|N	574;457;239;459|537	ENSP00000360483:A574T;ENSP00000439947:A239T;ENSP00000234725:A459T|ENSP00000440873:S537N	ENSP00000234725:A459T|ENSP00000440873:S537N	A|S	-|-	1|2	0|0	TMEM48|TMEM48	54025499|54025499	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.874000|5.874000	0.69652|0.69652	2.280000|2.280000	0.76307|0.76307	0.591000|0.591000	0.81541|0.81541	GCA|AGC	TMEM48	-	pfam_Nucleoporin_prot_Ndc1/Nup	ENSG00000058804		0.368	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM48	HGNC	protein_coding	OTTHUMT00000022101.1	358	0.00	0	C	NM_018087		54252911	54252911	-1	no_errors	ENST00000371429	ensembl	human	known	69_37n	missense	204	15.70	38	SNP	1.000	T
TMEM56	148534	genome.wustl.edu	37	1	95609561	95609561	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:95609561C>A	ENST00000370203.4	+	2	395	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.S35Y|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	35						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GCAAAAGTTTCTCCAGGTTTC	0.343																																						dbGAP											0													87.0	86.0	86.0					1																	95609561		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.104C>A	1.37:g.95609561C>A	ENSP00000359222:p.Ser35Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPI2|D3DT48	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.S35Y	ENST00000370203.4	37	c.104	CCDS753.1	1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822989	0.71028	.	.	ENSG00000152078	ENST00000370203;ENST00000456991;ENST00000455656	.	.	.	5.72	4.81	0.61882	.	0.094216	0.64402	D	0.000001	T	0.47691	0.1459	M	0.77616	2.38	0.41438	D	0.987903	P;P	0.50528	0.837;0.936	P;P	0.50617	0.51;0.646	T	0.62937	-0.6748	8	0.02654	T	1	-16.5735	13.6365	0.62225	0.0:0.9243:0.0:0.0757	.	35;35	C9JJM2;Q96MV1	.;TMM56_HUMAN	Y	35	.	ENSP00000359222:S35Y	S	+	2	0	TMEM56	95382149	1.000000	0.71417	0.874000	0.34290	0.947000	0.59692	3.578000	0.53892	1.421000	0.47157	0.650000	0.86243	TCT	TMEM56	-	NULL	ENSG00000152078		0.343	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM56	HGNC	protein_coding	OTTHUMT00000029935.1	275	0.36	1	C	NM_152487		95609561	95609561	+1	no_errors	ENST00000370203	ensembl	human	known	69_37n	missense	126	18.71	29	SNP	0.998	A
TMEM57	55219	genome.wustl.edu	37	1	25815677	25815677	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:25815677G>A	ENST00000374343.4	+	9	1689	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	TMEM57_ENST00000399766.3_Missense_Mutation_p.E277K|TMEM57_ENST00000399763.3_Missense_Mutation_p.E146K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	504					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGAATGCACCGAAACCTTACG	0.448																																						dbGAP											0													80.0	79.0	79.0					1																	25815677		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1510G>A	1.37:g.25815677G>A	ENSP00000363463:p.Glu504Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.E504K	ENST00000374343.4	37	c.1510	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.366256	0.95900	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;T	0.75938	-0.98;2.53	5.91	5.91	0.95273	.	0.046322	0.85682	D	0.000000	D	0.83445	0.5256	M	0.72353	2.195	0.80722	D	1	D;D;P	0.76494	0.974;0.999;0.557	P;P;B	0.57009	0.458;0.811;0.146	T	0.82784	-0.0286	10	0.46703	T	0.11	-18.9074	19.2828	0.94058	0.0:0.0:1.0:0.0	.	146;277;504	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	K	277;146;504	ENSP00000382668:E277K;ENSP00000363463:E504K	ENSP00000363463:E504K	E	+	1	0	TMEM57	25688264	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	9.285000	0.95894	2.804000	0.96469	0.462000	0.41574	GAA	TMEM57	-	pfam_Macoilin,superfamily_Prefoldin	ENSG00000204178		0.448	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	170	0.00	0	G	NM_018202		25815677	25815677	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	missense	110	17.29	23	SNP	1.000	A
TMEM57	55219	genome.wustl.edu	37	1	25817907	25817907	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:25817907C>T	ENST00000374343.4	+	10	1803	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	TMEM57_ENST00000399766.3_Missense_Mutation_p.R315W|TMEM57_ENST00000399763.3_Missense_Mutation_p.R184W	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	542					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGGAGCTTCGGAAATATAA	0.398																																						dbGAP											0													89.0	85.0	86.0					1																	25817907		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1624C>T	1.37:g.25817907C>T	ENSP00000363463:p.Arg542Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.R542W	ENST00000374343.4	37	c.1624	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375641	0.82682	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.85013	-1.93;-1.93;-1.93	5.35	5.35	0.76521	.	0.060402	0.64402	D	0.000002	D	0.91150	0.7213	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.70935	0.917;0.971;0.663	D	0.91945	0.5566	10	0.87932	D	0	-10.9782	14.5806	0.68288	0.1464:0.8536:0.0:0.0	.	184;315;542	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	W	315;184;542	ENSP00000382668:R315W;ENSP00000382666:R184W;ENSP00000363463:R542W	ENSP00000363463:R542W	R	+	1	2	TMEM57	25690494	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.678000	0.61641	2.497000	0.84241	0.467000	0.42956	CGG	TMEM57	-	pfam_Macoilin,superfamily_Prefoldin	ENSG00000204178		0.398	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	112	0.00	0	C	NM_018202		25817907	25817907	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	1.000	T
TMEM57	55219	genome.wustl.edu	37	1	25824808	25824808	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:25824808G>A	ENST00000374343.4	+	11	2025	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	TMEM57_ENST00000399766.3_Missense_Mutation_p.E389K|TMEM57_ENST00000399763.3_Missense_Mutation_p.E258K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	616					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGATAGCCGAAGTCATGGC	0.512																																						dbGAP											0													101.0	89.0	93.0					1																	25824808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1846G>A	1.37:g.25824808G>A	ENSP00000363463:p.Glu616Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.E616K	ENST00000374343.4	37	c.1846	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757312	0.89843	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.89485	-2.52;-2.52;-2.52	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.94182	0.8133	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.91635	0.885;0.973;0.999	D	0.93793	0.7094	10	0.46703	T	0.11	-18.4638	18.0593	0.89372	0.0:0.0:1.0:0.0	.	258;389;616	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	K	389;258;616	ENSP00000382668:E389K;ENSP00000382666:E258K;ENSP00000363463:E616K	ENSP00000363463:E616K	E	+	1	0	TMEM57	25697395	1.000000	0.71417	0.949000	0.38748	0.995000	0.86356	7.287000	0.78681	2.497000	0.84241	0.591000	0.81541	GAA	TMEM57	-	pfam_Macoilin	ENSG00000204178		0.512	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	228	0.43	1	G	NM_018202		25824808	25824808	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	missense	147	18.68	34	SNP	1.000	A
TMEM56	148534	genome.wustl.edu	37	1	95657404	95657404	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:95657404C>A	ENST00000370203.4	+	7	1063	c.772C>A	c.(772-774)Cag>Aag	p.Q258K	RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	258						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		AAATAGTCTTCAGAATGGAAA	0.363																																						dbGAP											0													69.0	66.0	67.0					1																	95657404		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.772C>A	1.37:g.95657404C>A	ENSP00000359222:p.Gln258Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPI2|D3DT48	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.Q258K	ENST00000370203.4	37	c.772	CCDS753.1	1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469286	0.26423	.	.	ENSG00000152078	ENST00000370203	.	.	.	6.16	5.2	0.72013	.	0.220196	0.47455	D	0.000225	T	0.19846	0.0477	L	0.45137	1.4	0.27696	N	0.945956	B	0.15473	0.013	B	0.12837	0.008	T	0.03384	-1.1042	8	0.02654	T	1	-3.1689	9.4195	0.38541	0.2666:0.6179:0.1154:0.0	.	258	Q96MV1	TMM56_HUMAN	K	258	.	ENSP00000359222:Q258K	Q	+	1	0	TMEM56	95429992	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	2.183000	0.42565	2.937000	0.99478	0.650000	0.86243	CAG	TMEM56	-	NULL	ENSG00000152078		0.363	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM56	HGNC	protein_coding	OTTHUMT00000029935.1	141	0.00	0	C	NM_152487		95657404	95657404	+1	no_errors	ENST00000370203	ensembl	human	known	69_37n	missense	104	28.77	42	SNP	1.000	A
TMEM63A	9725	genome.wustl.edu	37	1	226048687	226048687	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:226048687C>A	ENST00000366835.3	-	14	1366	c.1096G>T	c.(1096-1098)Gat>Tat	p.D366Y	TMEM63A_ENST00000537914.1_Missense_Mutation_p.D40Y|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	366					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCATTGAAATCTTTCAGGATG	0.547																																						dbGAP											0													127.0	120.0	123.0					1																	226048687		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1096G>T	1.37:g.226048687C>A	ENSP00000355800:p.Asp366Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.D366Y	ENST00000366835.3	37	c.1096	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.068187	0.93950	.	.	ENSG00000196187	ENST00000366835;ENST00000537914	T	0.21031	2.03	5.62	5.62	0.85841	Domain of unknown function DUF221 (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.61297	-0.7091	10	0.72032	D	0.01	-41.6434	19.6758	0.95932	0.0:1.0:0.0:0.0	.	366	O94886	TM63A_HUMAN	Y	366;40	ENSP00000355800:D366Y	ENSP00000355800:D366Y	D	-	1	0	TMEM63A	224115310	1.000000	0.71417	0.965000	0.40720	0.877000	0.50540	7.318000	0.79029	2.644000	0.89710	0.561000	0.74099	GAT	TMEM63A	-	pfam_DUF221	ENSG00000196187		0.547	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	119	0.83	1	C	NM_014698		226048687	226048687	-1	no_errors	ENST00000366835	ensembl	human	known	69_37n	missense	58	34.09	30	SNP	1.000	A
TMEM64	169200	genome.wustl.edu	37	8	91638050	91638050	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:91638050C>T	ENST00000458549.2	-	3	1169	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	TMEM64_ENST00000519519.1_Missense_Mutation_p.R70Q|TMEM64_ENST00000418210.2_Missense_Mutation_p.R279Q	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	331					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R137Q(1)		endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CACTTGAGCTCGATGAACTAC	0.303																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											78.0	73.0	75.0					8																	91638050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.992G>A	8.37:g.91638050C>T	ENSP00000414786:p.Arg331Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	pfam_SNARE_assoc	p.R331Q	ENST00000458549.2	37	c.992	CCDS34920.2	8	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584777	0.86748	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900;ENST00000519519	.	.	.	5.78	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D;P;D	0.61697	0.99;0.933;0.983	P;B;P	0.50825	0.651;0.344;0.548	T	0.68819	-0.5308	9	0.40728	T	0.16	.	14.6796	0.69006	0.0:0.9304:0.0:0.0695	.	279;70;331	F5GXM4;Q6YI46-2;Q6YI46	.;.;TMM64_HUMAN	Q	331;279;148;70	.	ENSP00000411951:R279Q	R	-	2	0	TMEM64	91707226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	1.454000	0.47793	0.655000	0.94253	CGA	TMEM64	-	NULL	ENSG00000180694		0.303	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM64	HGNC	protein_coding	OTTHUMT00000347825.1	105	0.00	0	C	NM_001008495		91638050	91638050	-1	no_errors	ENST00000458549	ensembl	human	known	69_37n	missense	139	12.58	20	SNP	1.000	T
TMEM87B	84910	genome.wustl.edu	37	2	112849293	112849293	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:112849293C>A	ENST00000283206.4	+	11	1406	c.1037C>A	c.(1036-1038)tCt>tAt	p.S346Y	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	346						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TTTCAGGGTTCTAACCATTTA	0.308																																						dbGAP											0													263.0	233.0	243.0					2																	112849293		2203	4297	6500	-	-	-	SO:0001583	missense	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1037C>A	2.37:g.112849293C>A	ENSP00000283206:p.Ser346Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S346Y	ENST00000283206.4	37	c.1037	CCDS33275.1	2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083110	0.55861	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.74	5.74	0.90152	.	0.309294	0.30859	N	0.008729	T	0.41119	0.1145	L	0.38838	1.175	0.34427	D	0.698105	P	0.38617	0.64	B	0.38921	0.285	T	0.43734	-0.9373	9	0.02654	T	1	-14.7029	15.7886	0.78332	0.0:1.0:0.0:0.0	.	346	Q96K49	TM87B_HUMAN	Y	346	.	ENSP00000283206:S346Y	S	+	2	0	TMEM87B	112565764	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.968000	0.40500	2.873000	0.98535	0.563000	0.77884	TCT	TMEM87B	-	pfam_TM_rcpt_euk	ENSG00000153214		0.308	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	788	0.25	2	C	NM_032824		112849293	112849293	+1	no_errors	ENST00000283206	ensembl	human	known	69_37n	missense	704	11.21	89	SNP	1.000	A
TMEM8B	51754	genome.wustl.edu	37	9	35846020	35846020	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:35846020G>A	ENST00000377991.4	+	8	1343	c.328G>A	c.(328-330)Gag>Aag	p.E110K	TMEM8B_ENST00000473947.1_3'UTR|TMEM8B_ENST00000377988.2_Missense_Mutation_p.E110K|TMEM8B_ENST00000439587.2_Missense_Mutation_p.E110K|TMEM8B_ENST00000377996.1_Missense_Mutation_p.E110K	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	110					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CTTGACTCACGAGGTGCCCTT	0.617																																						dbGAP											0													105.0	87.0	93.0					9																	35846020		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.328G>A	9.37:g.35846020G>A	ENSP00000367230:p.Glu110Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	pfam_DUF3522	p.E110K	ENST00000377991.4	37	c.328	CCDS43800.1	9	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570726	0.45798	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.43688	0.94;0.94;0.95;0.95	5.19	5.19	0.71726	.	0.276343	0.35970	N	0.002876	T	0.32882	0.0844	N	0.19112	0.55	0.38240	D	0.941298	B;D	0.63046	0.102;0.992	B;P	0.48063	0.012;0.565	T	0.11108	-1.0601	10	0.06099	T	0.92	-8.5919	17.7363	0.88394	0.0:0.0:1.0:0.0	.	110;474	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	K	110	ENSP00000367235:E110K;ENSP00000395810:E110K;ENSP00000367230:E110K;ENSP00000367227:E110K	ENSP00000367227:E110K	E	+	1	0	TMEM8B	35836020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.572000	0.90756	2.426000	0.82243	0.561000	0.74099	GAG	TMEM8B	-	NULL	ENSG00000137103		0.617	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8B	HGNC	protein_coding	OTTHUMT00000052388.2	150	0.00	0	G	NM_016446		35846020	35846020	+1	no_errors	ENST00000377988	ensembl	human	known	69_37n	missense	76	20.00	19	SNP	1.000	A
TMF1	7110	genome.wustl.edu	37	3	69088027	69088027	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:69088027C>T	ENST00000398559.2	-	7	2177	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R657Q|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	654					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CTGAATACTTCGGTTCTTTTC	0.363																																						dbGAP											0													145.0	133.0	137.0					3																	69088027		1855	4092	5947	-	-	-	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1961G>A	3.37:g.69088027C>T	ENSP00000381567:p.Arg654Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.R657Q	ENST00000398559.2	37	c.1970	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.507915	0.96386	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.19105	2.17;2.17	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.973	T	0.21075	-1.0256	10	0.30854	T	0.27	-7.7636	19.5268	0.95210	0.0:1.0:0.0:0.0	.	657;654	P82094-2;P82094	.;TMF1_HUMAN	Q	654;657;570	ENSP00000381567:R654Q;ENSP00000438706:R657Q	ENSP00000348582:R570Q	R	-	2	0	TMF1	69170717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.677000	0.84024	2.624000	0.88883	0.585000	0.79938	CGA	TMF1	-	NULL	ENSG00000144747		0.363	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	346	0.29	1	C	NM_007114		69088027	69088027	-1	no_errors	ENST00000543976	ensembl	human	known	69_37n	missense	249	17.00	51	SNP	1.000	T
TMOD3	29766	genome.wustl.edu	37	15	52192463	52192463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:52192463G>T	ENST00000308580.7	+	8	1128	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Nonsense_Mutation_p.E283*	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	283						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGAGATAATGAAACCCTGGC	0.448																																					Colon(122;1837 2251 18387 22826)	dbGAP											0													87.0	81.0	83.0					15																	52192463		2195	4293	6488	-	-	-	SO:0001587	stop_gained	0			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.847G>T	15.37:g.52192463G>T	ENSP00000308753:p.Glu283*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6G7|Q9NT43|Q9NZR0	Nonsense_Mutation	SNP	pfam_Tropomodulin	p.E283*	ENST00000308580.7	37	c.847	CCDS10145.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.342752	0.95783	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	.	.	.	5.47	5.47	0.80525	.	0.049993	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-22.5903	19.3219	0.94245	0.0:0.0:1.0:0.0	.	.	.	.	X	283	.	ENSP00000308753:E283X	E	+	1	0	TMOD3	49979755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.954000	0.87848	2.565000	0.86533	0.655000	0.94253	GAA	TMOD3	-	NULL	ENSG00000138594		0.448	TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD3	HGNC	protein_coding	OTTHUMT00000254740.3	151	0.00	0	G			52192463	52192463	+1	no_errors	ENST00000308580	ensembl	human	known	69_37n	nonsense	88	27.27	33	SNP	1.000	T
TMOD4	29765	genome.wustl.edu	37	1	151147252	151147252	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:151147252C>T	ENST00000416280.2	-	2	199	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGTAGTTCGCAGTCCAGC	0.532																																						dbGAP											0													98.0	83.0	88.0					1																	151147252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.100G>A	1.37:g.151147252C>T	ENSP00000414180:p.Glu34Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Missense_Mutation	SNP	pfam_Tropomodulin	p.E34K	ENST00000416280.2	37	c.100		1	.	.	.	.	.	.	.	.	.	.	.	32	5.164878	0.94727	.	.	ENSG00000163157	ENST00000295314;ENST00000416280;ENST00000441701	T;T;T	0.31510	1.49;1.49;1.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.87097	2.86	0.80722	D	1	P;D	0.89917	0.904;1.0	B;D	0.70016	0.347;0.967	T	0.55958	-0.8058	10	0.41790	T	0.15	-24.1193	18.949	0.92635	0.0:1.0:0.0:0.0	.	34;34	B7Z6N9;Q9NZQ9	.;TMOD4_HUMAN	K	34	ENSP00000295314:E34K;ENSP00000414180:E34K;ENSP00000406333:E34K	ENSP00000295314:E34K	E	-	1	0	TMOD4	149413876	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.591000	0.82666	2.771000	0.95319	0.561000	0.74099	GAA	TMOD4	-	pfam_Tropomodulin	ENSG00000163157		0.532	TMOD4-201	KNOWN	basic	protein_coding	TMOD4	HGNC	protein_coding		271	0.00	0	C			151147252	151147252	-1	no_errors	ENST00000295314	ensembl	human	known	69_37n	missense	131	24.14	42	SNP	1.000	T
TMPO	7112	genome.wustl.edu	37	12	98925509	98925509	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:98925509G>T	ENST00000556029.1	+	3	814	c.458G>T	c.(457-459)gGa>gTa	p.G153V	TMPO_ENST00000393053.2_Missense_Mutation_p.G153V|TMPO_ENST00000261210.5_Missense_Mutation_p.G153V|TMPO_ENST00000266732.4_Missense_Mutation_p.G153V|TMPO_ENST00000343315.5_Missense_Mutation_p.G153V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	153	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.|NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGGAACAAGGAACAGAATCA	0.378																																						dbGAP											0													106.0	97.0	100.0					12																	98925509		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.458G>T	12.37:g.98925509G>T	ENSP00000450627:p.Gly153Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2T926|Q14861	Missense_Mutation	SNP	pfam_LAP2alpha,pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.G153V	ENST00000556029.1	37	c.458	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780625	0.70222	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.74002	0.23;0.22;1.61;-0.2;-0.8;-0.72	5.4	5.4	0.78164	LEM-like domain (4);Lamino-associated polypeptide 2/emerin (4);	0.217202	0.45867	D	0.000332	D	0.84424	0.5469	L	0.57536	1.79	0.80722	D	1	B;D;B;P	0.76494	0.314;0.999;0.264;0.723	B;D;B;B	0.73708	0.09;0.981;0.037;0.234	D	0.85257	0.1048	10	0.62326	D	0.03	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	186;153;153;153	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	V	153;153;153;153;153;60	ENSP00000450627:G153V;ENSP00000340251:G153V;ENSP00000266732:G153V;ENSP00000376773:G153V;ENSP00000261210:G153V;ENSP00000451552:G60V	ENSP00000261210:G153V	G	+	2	0	TMPO	97449640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.298000	0.59067	2.523000	0.85059	0.655000	0.94253	GGA	TMPO	-	superfamily_LEM-like_dom,smart_LEM,pfscan_LEM	ENSG00000120802		0.378	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	121	0.00	0	G	NM_003276		98925509	98925509	+1	no_errors	ENST00000266732	ensembl	human	known	69_37n	missense	105	25.00	35	SNP	1.000	T
TMPRSS11A	339967	genome.wustl.edu	37	4	68777148	68777148	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:68777148C>T	ENST00000334830.7	-	10	1924	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.G389E|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G390E			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	393	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ACAGTTATCTCCCCAGCTTAC	0.388																																					NSCLC(26;2 894 10941 14480 22546)	dbGAP											0													162.0	153.0	156.0					4																	68777148		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1178G>A	4.37:g.68777148C>T	ENSP00000334611:p.Gly393Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G393E	ENST00000334830.7	37	c.1178	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973188	0.92919	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.52532	D	0.000078	D	0.98349	0.9452	M	0.94101	3.495	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99305	1.0902	10	0.87932	D	0	.	17.2468	0.87030	0.0:1.0:0.0:0.0	.	390;393	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	E	389;393;390;357	ENSP00000426911:G389E;ENSP00000334611:G393E;ENSP00000379491:G390E;ENSP00000427621:G357E	ENSP00000334611:G393E	G	-	2	0	TMPRSS11A	68459743	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.463000	0.80869	2.668000	0.90789	0.460000	0.39030	GGA	TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000187054		0.388	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	487	0.00	0	C	NM_182606		68777148	68777148	-1	no_errors	ENST00000334830	ensembl	human	known	69_37n	missense	319	21.43	87	SNP	1.000	T
TMPRSS11A	339967	genome.wustl.edu	37	4	68784789	68784789	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:68784789G>A	ENST00000334830.7	-	8	1609	c.863C>T	c.(862-864)tCg>tTg	p.S288L	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.S284L|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.S285L			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	288	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			S -> P (in Ref. 1; AAD41463). {ECO:0000305}.	cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.S288L(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TATGTCATCCGAAAAGGTGAC	0.443																																					NSCLC(26;2 894 10941 14480 22546)	dbGAP											2	Substitution - Missense(2)	large_intestine(2)											161.0	165.0	163.0					4																	68784789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.863C>T	4.37:g.68784789G>A	ENSP00000334611:p.Ser288Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S288L	ENST00000334830.7	37	c.863	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529581	0.44969	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.36	5.36	0.76844	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113273	0.39341	N	0.001393	D	0.94528	0.8238	M	0.83774	2.66	0.39621	D	0.970031	P;P	0.49862	0.929;0.929	B;B	0.41374	0.355;0.355	D	0.95933	0.8940	10	0.87932	D	0	.	16.5682	0.84604	0.0:0.0:1.0:0.0	.	285;288	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	L	284;288;285;252	ENSP00000426911:S284L;ENSP00000334611:S288L;ENSP00000379491:S285L;ENSP00000427621:S252L	ENSP00000334611:S288L	S	-	2	0	TMPRSS11A	68467384	0.976000	0.34144	0.312000	0.25196	0.086000	0.17979	2.020000	0.41010	2.512000	0.84698	0.591000	0.81541	TCG	TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000187054		0.443	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	214	0.00	0	G	NM_182606		68784789	68784789	-1	no_errors	ENST00000334830	ensembl	human	known	69_37n	missense	136	13.38	21	SNP	0.989	A
TMPRSS11E	28983	genome.wustl.edu	37	4	69343141	69343141	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:69343141G>A	ENST00000305363.4	+	8	826	c.762G>A	c.(760-762)tcG>tcA	p.S254S		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TAAAACCTTCGAAAATGAAAC	0.388																																						dbGAP											0													148.0	162.0	157.0					4																	69343141		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.762G>A	4.37:g.69343141G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL71|Q14DC8|Q6UW31	Silent	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6	p.S254	ENST00000305363.4	37	c.762	CCDS33993.1	4																																																																																			TMPRSS11E	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000087128		0.388	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11E	HGNC	protein_coding	OTTHUMT00000360584.1	387	0.26	1	G	NM_014058		69343141	69343141	+1	no_errors	ENST00000305363	ensembl	human	known	69_37n	silent	243	25.91	85	SNP	0.000	A
TMTC3	160418	genome.wustl.edu	37	12	88588926	88588926	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:88588926C>A	ENST00000266712.6	+	14	2465	c.2245C>A	c.(2245-2247)Caa>Aaa	p.Q749K		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	750					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TCTGATGAATCAAAAGAAAGA	0.348																																						dbGAP											0													49.0	51.0	50.0					12																	88588926		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2245C>A	12.37:g.88588926C>A	ENSP00000266712:p.Gln749Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q749K	ENST00000266712.6	37	c.2245	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779960	0.49891	.	.	ENSG00000139324	ENST00000266712	T	0.74315	-0.83	5.69	5.69	0.88448	.	0.048597	0.85682	D	0.000000	T	0.63651	0.2529	N	0.22421	0.69	0.58432	D	0.999999	B	0.13145	0.007	B	0.12837	0.008	T	0.57522	-0.7797	10	0.16420	T	0.52	-14.8323	19.7954	0.96478	0.0:1.0:0.0:0.0	.	749	Q6ZXV5-2	.	K	749	ENSP00000266712:Q749K	ENSP00000266712:Q749K	Q	+	1	0	TMTC3	87113057	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.754000	0.85163	2.685000	0.91497	0.591000	0.81541	CAA	TMTC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000139324		0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	77	0.00	0	C	NM_181783		88588926	88588926	+1	no_errors	ENST00000266712	ensembl	human	known	69_37n	missense	64	12.33	9	SNP	1.000	A
TNC	3371	genome.wustl.edu	37	9	117798149	117798149	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:117798149C>A	ENST00000350763.4	-	21	6068				TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C						bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTCTTAAAATCTTTTCCTTCC	0.423																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5656+227G>T	9.37:g.117798149C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	RNA	SNP	-	NULL	ENST00000350763.4	37	NULL	CCDS6811.1	9																																																																																			TNC	-	-	ENSG00000041982		0.423	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	16	0.00	0	C	NM_002160		117798149	117798149	-1	no_errors	ENST00000460345	ensembl	human	known	69_37n	rna	10	37.50	6	SNP	0.008	A
TNC	3371	genome.wustl.edu	37	9	117845005	117845005	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:117845005G>A	ENST00000350763.4	-	5	2624	c.2213C>T	c.(2212-2214)gCt>gTt	p.A738V	TNC_ENST00000345230.3_Missense_Mutation_p.A738V|TNC_ENST00000542877.1_Missense_Mutation_p.A738V|TNC_ENST00000346706.3_Missense_Mutation_p.A738V|TNC_ENST00000423613.2_Missense_Mutation_p.A738V|TNC_ENST00000535648.1_Missense_Mutation_p.A738V|TNC_ENST00000537320.1_Missense_Mutation_p.A738V|TNC_ENST00000341037.4_Missense_Mutation_p.A738V|TNC_ENST00000340094.3_Missense_Mutation_p.A738V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	738	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTTTCAAAAGCAATGTCTAG	0.423																																						dbGAP											0													126.0	117.0	120.0					9																	117845005		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2213C>T	9.37:g.117845005G>A	ENSP00000265131:p.Ala738Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A738V	ENST00000350763.4	37	c.2213	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929187	0.73327	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.88	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.348037	0.34046	N	0.004320	T	0.46927	0.1418	N	0.08118	0	0.37412	D	0.913284	D;P	0.56035	0.974;0.947	P;P	0.55508	0.777;0.777	T	0.57359	-0.7825	10	0.37606	T	0.19	.	15.183	0.72975	0.0679:0.0:0.9321:0.0	.	738;738	E9PC84;P24821	.;TENA_HUMAN	V	738	ENSP00000344400:A738V;ENSP00000438152:A738V;ENSP00000344555:A738V;ENSP00000345861:A738V;ENSP00000265131:A738V;ENSP00000339553:A738V;ENSP00000411406:A738V;ENSP00000443478:A738V;ENSP00000442242:A738V	ENSP00000344400:A738V	A	-	2	0	TNC	116884826	1.000000	0.71417	0.994000	0.49952	0.287000	0.27160	9.869000	0.99810	1.486000	0.48398	-0.150000	0.13652	GCT	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.423	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	133	0.00	0	G	NM_002160		117845005	117845005	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	missense	96	11.93	13	SNP	1.000	A
TNFAIP3	7128	genome.wustl.edu	37	6	138192623	138192623	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:138192623C>T	ENST00000237289.4	+	2	325	c.259C>T	c.(259-261)Cga>Tga	p.R87*		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	87	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CAACTGGTGTCGAGAAGTCCG	0.512			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	dbGAP		Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											156.0	145.0	149.0					6																	138192623		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.259C>T	6.37:g.138192623C>T	ENSP00000237289:p.Arg87*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Nonsense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R87*	ENST00000237289.4	37	c.259	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.417548	0.96092	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000433680;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	.	.	.	6.08	6.08	0.98989	.	0.064020	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7549	14.6404	0.68720	0.1539:0.8461:0.0:0.0	.	.	.	.	X	87	.	ENSP00000237289:R87X	R	+	1	2	TNFAIP3	138234316	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.786000	0.47790	2.890000	0.99128	0.655000	0.94253	CGA	TNFAIP3	-	NULL	ENSG00000118503		0.512	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	330	0.30	1	C			138192623	138192623	+1	no_errors	ENST00000237289	ensembl	human	known	69_37n	nonsense	183	12.44	26	SNP	1.000	T
TNFRSF1A	7132	genome.wustl.edu	37	12	6443283	6443283	+	Missense_Mutation	SNP	G	G	A	rs199961053	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6443283G>A	ENST00000162749.2	-	2	466	c.167C>T	c.(166-168)tCg>tTg	p.S56L	TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.S56L|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.S56L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	56					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						ACAGCAAATCGAATTATTTTG	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		20532	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													178.0	175.0	176.0					12																	6443283		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.167C>T	12.37:g.6443283G>A	ENSP00000162749:p.Ser56Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.S56L	ENST00000162749.2	37	c.167	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265698	0.40095	.	.	ENSG00000067182	ENST00000162749;ENST00000540022;ENST00000539372;ENST00000366159;ENST00000440083;ENST00000536194	D;D;D;D;D;T	0.94184	-3.37;-2.86;-3.37;-3.37;-3.37;-0.63	3.89	3.89	0.44902	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.471284	0.22920	N	0.054038	D	0.92828	0.7719	L	0.54323	1.7	0.09310	N	0.999999	D;D;D	0.69078	0.997;0.987;0.991	P;P;B	0.53401	0.725;0.594;0.339	D	0.86060	0.1531	10	0.32370	T	0.25	-27.8087	11.2473	0.49004	0.0:0.0:1.0:0.0	.	56;56;56	B5M0B5;F5H061;P19438	.;.;TNR1A_HUMAN	L	56	ENSP00000162749:S56L;ENSP00000438343:S56L;ENSP00000442059:S56L;ENSP00000380389:S56L;ENSP00000413224:S56L;ENSP00000442919:S56L	ENSP00000162749:S56L	S	-	2	0	TNFRSF1A	6313544	0.849000	0.29639	0.128000	0.21923	0.201000	0.24016	4.644000	0.61397	2.022000	0.59522	0.563000	0.77884	TCG	TNFRSF1A	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000067182		0.502	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	370	0.00	0	G	NM_001065		6443283	6443283	-1	no_errors	ENST00000162749	ensembl	human	known	69_37n	missense	176	24.14	56	SNP	0.177	A
TNFRSF1B	7133	genome.wustl.edu	37	1	12266982	12266982	+	Missense_Mutation	SNP	C	C	T	rs571590743		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:12266982C>T	ENST00000376259.3	+	10	1380	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	431					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ATGTGCCTTTCGGTCACAGCT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20640	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													96.0	92.0	93.0					1																	12266982		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.1291C>T	1.37:g.12266982C>T	ENSP00000365435:p.Arg431Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.R431W	ENST00000376259.3	37	c.1291	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	C	9.468	1.094942	0.20471	.	.	ENSG00000028137	ENST00000376259	D	0.87029	-2.2	4.93	2.85	0.33270	.	2.095870	0.01684	N	0.026319	T	0.74846	0.3770	N	0.08118	0	0.09310	N	0.999999	D	0.63880	0.993	B	0.37508	0.252	T	0.70890	-0.4749	10	0.87932	D	0	-5.7218	7.5566	0.27827	0.1888:0.6284:0.1828:0.0	.	431	P20333	TNR1B_HUMAN	W	431	ENSP00000365435:R431W	ENSP00000365435:R431W	R	+	1	2	TNFRSF1B	12189569	0.016000	0.18221	0.051000	0.19133	0.014000	0.08584	0.988000	0.29616	1.148000	0.42385	0.561000	0.74099	CGG	TNFRSF1B	-	NULL	ENSG00000028137		0.617	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	230	0.00	0	C	NM_001066		12266982	12266982	+1	no_errors	ENST00000376259	ensembl	human	known	69_37n	missense	144	18.89	34	SNP	0.014	T
TNFSF12	8742	genome.wustl.edu	37	17	7453497	7453497	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7453497C>T	ENST00000293825.6	+	3	531	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	TNFSF12_ENST00000462811.1_3'UTR|TNFSF12_ENST00000557233.1_Missense_Mutation_p.R90W|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.R90W	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	90					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CCGACTAGTTCGGCCTCGCAG	0.547																																						dbGAP											0													114.0	102.0	106.0					17																	7453497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.268C>T	17.37:g.7453497C>T	ENSP00000293825:p.Arg90Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.R90W	ENST00000293825.6	37	c.268	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	C	19.59	3.857021	0.71834	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	D;D	0.98249	-4.82;-4.82	4.93	3.95	0.45737	.	0.793989	0.10969	N	0.614083	D	0.97798	0.9277	L	0.29908	0.895	0.33302	D	0.564968	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	D	0.96645	0.9477	10	0.87932	D	0	-12.4267	10.6659	0.45731	0.1913:0.8087:0.0:0.0	.	90;90	Q8IZK7;O43508	.;TNF12_HUMAN	W	90	ENSP00000451451:R90W;ENSP00000293826:R90W	ENSP00000293825:R90W	R	+	1	2	TNFSF12-TNFSF13;TNFSF12	7394221	0.930000	0.31532	0.921000	0.36526	0.919000	0.55068	1.815000	0.38981	1.401000	0.46761	0.655000	0.94253	CGG	TNFSF12-TNFSF13	-	NULL	ENSG00000248871		0.547	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226951.2	118	0.00	0	C	NM_003809		7453497	7453497	+1	no_errors	ENST00000293826	ensembl	human	known	69_37n	missense	76	24.51	25	SNP	0.924	T
TNFSF13	8741	genome.wustl.edu	37	17	7464141	7464141	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7464141G>T	ENST00000338784.4	+	6	1187	c.744G>T	c.(742-744)gtG>gtT	p.V248V	SENP3_ENST00000429205.2_5'Flank|TNFSF13_ENST00000396542.1_Silent_p.V203V|TNFSF13_ENST00000349228.4_Silent_p.V232V|SENP3-EIF4A1_ENST00000579777.1_RNA|TNFSF13_ENST00000396545.4_Intron|TNFSF13_ENST00000380535.4_Silent_p.V220V|TNFSF12_ENST00000557233.1_Silent_p.V328V|TNFSF13_ENST00000483039.1_Silent_p.V112V|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.V328V|SENP3_ENST00000321337.7_5'Flank	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	248					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				TGGGGTTTGTGAAACTGTGAT	0.473											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													108.0	102.0	104.0					17																	7464141		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	ENST00000338784.4:c.744G>T	17.37:g.7464141G>T		Somatic	641	WXS	Illumina GAIIx	Phase_IV	A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.V328	ENST00000338784.4	37	c.984	CCDS11111.1	17																																																																																			TNFSF12-TNFSF13	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	ENSG00000248871		0.473	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226948.2	88	0.00	0	G	NM_003808		7464141	7464141	+1	no_errors	ENST00000293826	ensembl	human	known	69_37n	silent	31	38.00	19	SNP	1.000	T
TNFSF15	9966	genome.wustl.edu	37	9	117552753	117552753	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:117552753G>T	ENST00000374045.4	-	4	848	c.735C>A	c.(733-735)ttC>ttA	p.F245L	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.F168L	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	245					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						AGGCTCCAAAGAAGGTTTTAT	0.398																																						dbGAP											0													101.0	106.0	104.0					9																	117552753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.735C>A	9.37:g.117552753G>T	ENSP00000363157:p.Phe245Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c	p.F245L	ENST00000374045.4	37	c.735	CCDS6809.1	9	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441413	0.83993	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	D;D	0.96522	-4.04;-4.04	6.03	4.02	0.46733	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.85041	2.73	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.98444	1.0588	10	0.87932	D	0	-18.763	12.0595	0.53555	0.1468:0.0:0.8532:0.0	.	245;186	O95150;O95150-2	TNF15_HUMAN;.	L	245;168	ENSP00000363157:F245L;ENSP00000363156:F168L	ENSP00000363156:F168L	F	-	3	2	TNFSF15	116592574	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.256000	0.43231	1.395000	0.46643	0.655000	0.94253	TTC	TNFSF15	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c	ENSG00000181634		0.398	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2	149	0.00	0	G	NM_005118		117552753	117552753	-1	no_errors	ENST00000374045	ensembl	human	known	69_37n	missense	112	10.40	13	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170828506	170828506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:170828506G>A	ENST00000436636.2	-	19	2625	c.2281C>T	c.(2281-2283)Cga>Tga	p.R761*	TNIK_ENST00000341852.6_Nonsense_Mutation_p.R677*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R732*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R677*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R732*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R706*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R761*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R732*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	761	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R761*(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTTTACCTCGAACTCTGGTG	0.542																																						dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											45.0	47.0	46.0					3																	170828506		1976	4172	6148	-	-	-	SO:0001587	stop_gained	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2281C>T	3.37:g.170828506G>A	ENSP00000399511:p.Arg761*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R761*	ENST00000436636.2	37	c.2281	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.368756	0.98241	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	.	.	.	6.17	5.25	0.73442	.	0.136497	0.48767	D	0.000163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2717	0.82624	0.0:0.0:0.7991:0.2009	.	.	.	.	X	761;732;706;677;761;677;732;706;706;732	.	ENSP00000284483:R761X	R	-	1	2	TNIK	172311200	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.405000	0.44548	2.941000	0.99782	0.655000	0.94253	CGA	TNIK	-	NULL	ENSG00000154310		0.542	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	201	0.00	0	G	XM_039796		170828506	170828506	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	nonsense	138	26.20	49	SNP	0.970	A
TNIP3	79931	genome.wustl.edu	37	4	122085252	122085252	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:122085252C>A	ENST00000509841.1	-	4	338	c.260G>T	c.(259-261)aGa>aTa	p.R87I	TNIP3_ENST00000057513.3_Missense_Mutation_p.R10I|TNIP3_ENST00000507879.1_Missense_Mutation_p.R80I|TNIP3_ENST00000454328.1_Missense_Mutation_p.R10I	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GGCAATCATTCTAGATGTGCC	0.393																																						dbGAP											0													125.0	116.0	119.0					4																	122085252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.260G>T	4.37:g.122085252C>A	ENSP00000426613:p.Arg87Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R10I	ENST00000509841.1	37	c.29	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034180	0.54896	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.51817	0.8;0.8;0.7;0.69	5.44	2.8	0.32819	.	0.942035	0.08813	N	0.890034	T	0.53465	0.1798	L	0.44542	1.39	0.21220	N	0.999757	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.56700	0.804;0.804;0.804	T	0.38156	-0.9674	10	0.59425	D	0.04	-1.8178	8.2609	0.31783	0.0:0.7465:0.0:0.2534	.	80;10;10	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	I	10;10;80;87	ENSP00000057513:R10I;ENSP00000411817:R10I;ENSP00000427106:R80I;ENSP00000426613:R87I	ENSP00000057513:R10I	R	-	2	0	TNIP3	122304702	0.443000	0.25641	0.019000	0.16419	0.019000	0.09904	0.914000	0.28624	0.498000	0.27948	-0.142000	0.14014	AGA	TNIP3	-	NULL	ENSG00000050730		0.393	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	287	0.00	0	C	NM_024873		122085252	122085252	-1	no_errors	ENST00000057513	ensembl	human	known	69_37n	missense	237	13.19	36	SNP	0.221	A
TNKS	8658	genome.wustl.edu	37	8	9562212	9562212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:9562212C>T	ENST00000310430.6	+	6	1173	c.1147C>T	c.(1147-1149)Cga>Tga	p.R383*	TNKS_ENST00000520408.1_Nonsense_Mutation_p.R383*|TNKS_ENST00000518281.1_Nonsense_Mutation_p.R146*|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	383					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CAACAGAGTTCGAATAGTTCA	0.393																																						dbGAP											0													169.0	160.0	163.0					8																	9562212		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1147C>T	8.37:g.9562212C>T	ENSP00000311579:p.Arg383*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95272|Q4G0F2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R383*	ENST00000310430.6	37	c.1147	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.486417	0.96323	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	.	.	.	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9137	0.79491	0.1364:0.8636:0.0:0.0	.	.	.	.	X	383;383;146	.	ENSP00000311579:R383X	R	+	1	2	TNKS	9599622	0.994000	0.37717	0.949000	0.38748	0.781000	0.44180	3.040000	0.49799	1.428000	0.47296	0.591000	0.81541	CGA	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000173273		0.393	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	378	0.00	0	C	NM_003747		9562212	9562212	+1	no_errors	ENST00000310430	ensembl	human	known	69_37n	nonsense	252	13.10	38	SNP	0.997	T
TNKS	8658	genome.wustl.edu	37	8	9588468	9588468	+	Silent	SNP	C	C	T	rs575224152		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:9588468C>T	ENST00000310430.6	+	14	2096	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	TNKS_ENST00000518281.1_Silent_p.F453F	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	690					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCTTACACTTCGCAGCAGGCT	0.498																																						dbGAP											0													121.0	104.0	110.0					8																	9588468		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2070C>T	8.37:g.9588468C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95272|Q4G0F2	Silent	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom	p.F690	ENST00000310430.6	37	c.2070	CCDS5974.1	8																																																																																			TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000173273		0.498	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	171	0.00	0	C	NM_003747		9588468	9588468	+1	no_errors	ENST00000310430	ensembl	human	known	69_37n	silent	108	30.32	47	SNP	0.999	T
TNKS	8658	genome.wustl.edu	37	8	9622298	9622298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:9622298C>T	ENST00000310430.6	+	23	3471	c.3445C>T	c.(3445-3447)Cga>Tga	p.R1149*	TNKS_ENST00000518281.1_Nonsense_Mutation_p.R912*	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1149	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CAATGTCATTCGAGTAAGTTT	0.323																																						dbGAP											0													108.0	107.0	107.0					8																	9622298		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3445C>T	8.37:g.9622298C>T	ENSP00000311579:p.Arg1149*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95272|Q4G0F2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R1149*	ENST00000310430.6	37	c.3445	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	C	44	10.864880	0.99480	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	.	.	.	5.84	3.86	0.44501	.	0.051013	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3061	0.54902	0.5715:0.4285:0.0:0.0	.	.	.	.	X	1149;912	.	ENSP00000311579:R1149X	R	+	1	2	TNKS	9659708	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.617000	0.74210	1.454000	0.47793	0.561000	0.74099	CGA	TNKS	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000173273		0.323	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	100	0.99	1	C	NM_003747		9622298	9622298	+1	no_errors	ENST00000310430	ensembl	human	known	69_37n	nonsense	129	22.75	38	SNP	1.000	T
TNMD	64102	genome.wustl.edu	37	X	99848939	99848939	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:99848939G>T	ENST00000373031.4	+	3	445	c.228G>T	c.(226-228)aaG>aaT	p.K76N	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	76					cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						AGAAGAAGAAGATTTACATGG	0.408																																						dbGAP											0													130.0	116.0	121.0					X																	99848939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.228G>T	X.37:g.99848939G>T	ENSP00000362122:p.Lys76Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.K76N	ENST00000373031.4	37	c.228	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601336	0.66445	.	.	ENSG00000000005	ENST00000373031	T	0.31769	1.48	5.96	3.26	0.37387	.	0.110224	0.64402	D	0.000007	T	0.15522	0.0374	N	0.24115	0.695	0.35239	D	0.777658	P	0.47409	0.895	B	0.35607	0.206	T	0.21042	-1.0257	10	0.66056	D	0.02	-5.6976	5.2684	0.15611	0.3513:0.0:0.5174:0.1313	.	76	Q9H2S6	TNMD_HUMAN	N	76	ENSP00000362122:K76N	ENSP00000362122:K76N	K	+	3	2	TNMD	99735595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.731000	0.38135	0.267000	0.21916	0.594000	0.82650	AAG	TNMD	-	NULL	ENSG00000000005		0.408	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	335	0.30	1	G	NM_022144		99848939	99848939	+1	no_errors	ENST00000373031	ensembl	human	known	69_37n	missense	318	12.64	46	SNP	1.000	T
TNMD	64102	genome.wustl.edu	37	X	99849291	99849291	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:99849291A>G	ENST00000373031.4	+	4	572	c.355A>G	c.(355-357)Aaa>Gaa	p.K119E	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	119	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cellular response to BMP stimulus (GO:0071773)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|tendon cell differentiation (GO:0035990)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GGGTCTTCAAAAATGTTTTAT	0.353																																						dbGAP											0													105.0	93.0	97.0					X																	99849291		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF191770	CCDS14469.1	Xq21.33-q23	2012-10-10			ENSG00000000005	ENSG00000000005		"""BRICHOS domain containing"""	17757	protein-coding gene	gene with protein product	"""BRICHOS domain containing 4"""	300459					Standard	NM_022144		Approved	myodulin, ChM1L, tendin, TEM, BRICD4	uc004efy.4	Q9H2S6	OTTHUMG00000022001	ENST00000373031.4:c.355A>G	X.37:g.99849291A>G	ENSP00000362122:p.Lys119Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBX0|Q9UJG0	Missense_Mutation	SNP	pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom	p.K119E	ENST00000373031.4	37	c.355	CCDS14469.1	X	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460216	0.84317	.	.	ENSG00000000005	ENST00000373031	T	0.80214	-1.35	5.87	5.87	0.94306	BRICHOS (2);	0.049976	0.85682	D	0.000000	D	0.88858	0.6551	M	0.69823	2.125	0.49130	D	0.999757	D	0.69078	0.997	D	0.77004	0.989	D	0.90021	0.4128	10	0.87932	D	0	-30.9261	15.1895	0.73032	1.0:0.0:0.0:0.0	.	119	Q9H2S6	TNMD_HUMAN	E	119	ENSP00000362122:K119E	ENSP00000362122:K119E	K	+	1	0	TNMD	99735947	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.876000	0.69667	1.970000	0.57323	0.481000	0.45027	AAA	TNMD	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	ENSG00000000005		0.353	TNMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNMD	HGNC	protein_coding	OTTHUMT00000057481.1	379	0.26	1	A	NM_022144		99849291	99849291	+1	no_errors	ENST00000373031	ensembl	human	known	69_37n	missense	274	27.13	102	SNP	1.000	G
TNN	63923	genome.wustl.edu	37	1	175113562	175113563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:175113562_175113563insT	ENST00000239462.4	+	18	3748_3749	c.3635_3636insT	c.(3634-3639)acttttfs	p.TF1212fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1212	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAGTTTACAACTTTTGACAGAG	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3639dupT	1.37:g.175113566_175113566dupT	ENSP00000239462:p.Thr1212fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGP3|Q5R360	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.D1214fs	ENST00000239462.4	37	c.3635_3636	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000120332		0.500	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	376	0.00	0	-	XM_040527		175113562	175113563	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	frame_shift_ins	461	10.14	52	INS	1.000:0.938	T
TNN	63923	genome.wustl.edu	37	1	175116102	175116102	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:175116102C>A	ENST00000239462.4	+	19	3908	c.3795C>A	c.(3793-3795)ttC>ttA	p.F1265L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1265	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACATGAATTCTCCATTCCTT	0.517											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													72.0	70.0	71.0					1																	175116102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3795C>A	1.37:g.175116102C>A	ENSP00000239462:p.Phe1265Leu	Somatic	1921	WXS	Illumina GAIIx	Phase_IV	B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.F1265L	ENST00000239462.4	37	c.3795	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801204	0.70567	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.80393	-1.37	5.8	5.8	0.92144	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.351640	0.33938	N	0.004417	T	0.74275	0.3695	L	0.31578	0.945	0.34423	D	0.697656	P	0.37122	0.583	B	0.40864	0.342	T	0.82174	-0.0588	10	0.59425	D	0.04	.	12.933	0.58296	0.0:0.9256:0.0:0.0744	.	1265	Q9UQP3	TENN_HUMAN	L	1265;1088	ENSP00000239462:F1265L	ENSP00000239462:F1265L	F	+	3	2	TNN	173382725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.388000	0.34442	2.736000	0.93811	0.579000	0.79373	TTC	TNN	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000120332		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	176	0.00	0	C	XM_040527		175116102	175116102	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	119	21.71	33	SNP	1.000	A
TNNI1	7135	genome.wustl.edu	37	1	201379468	201379468	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:201379468C>T	ENST00000361379.4	-	8	644	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TNNI1_ENST00000367312.1_Silent_p.P184P|TNNI1_ENST00000555948.1_Silent_p.P102P|TNNI1_ENST00000336092.4_Silent_p.P184P	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	184					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATTGTGAGGTCGGAGACTTGG	0.562																																						dbGAP											0													129.0	109.0	116.0					1																	201379468		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.552G>A	1.37:g.201379468C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Silent	SNP	pfam_Troponin	p.P184	ENST00000361379.4	37	c.552	CCDS1411.1	1																																																																																			TNNI1	-	NULL	ENSG00000159173		0.562	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI1	HGNC	protein_coding	OTTHUMT00000087001.1	239	0.42	1	C	NM_003281		201379468	201379468	-1	no_errors	ENST00000336092	ensembl	human	known	69_37n	silent	119	38.27	75	SNP	0.009	T
TNP1	7141	genome.wustl.edu	37	2	217724753	217724753	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:217724753G>A	ENST00000236979.2	-	1	34	c.5C>T	c.(4-6)tCg>tTg	p.S2L	AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	2					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGCTGGTCGACATGGTAAG	0.537																																						dbGAP											0													86.0	82.0	83.0					2																	217724753		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.5C>T	2.37:g.217724753G>A	ENSP00000236979:p.Ser2Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Nuclear_transition_prot1	p.S2L	ENST00000236979.2	37	c.5	CCDS2406.1	2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020592	0.35606	.	.	ENSG00000118245	ENST00000236979	.	.	.	5.4	5.4	0.78164	.	0.131189	0.35495	N	0.003174	T	0.52322	0.1727	.	.	.	0.32435	N	0.547473	P	0.39282	0.666	B	0.41988	0.372	T	0.66854	-0.5818	8	0.87932	D	0	-0.9742	14.5545	0.68091	0.0:0.0:1.0:0.0	.	2	P09430	STP1_HUMAN	L	2	.	ENSP00000236979:S2L	S	-	2	0	TNP1	217432998	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.235000	0.58666	2.814000	0.96858	0.655000	0.94253	TCG	TNP1	-	pfam_Nuclear_transition_prot1	ENSG00000118245		0.537	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNP1	HGNC	protein_coding	OTTHUMT00000256673.1	184	0.00	0	G	NM_003284		217724753	217724753	-1	no_errors	ENST00000236979	ensembl	human	known	69_37n	missense	170	30.61	75	SNP	1.000	A
TNR	7143	genome.wustl.edu	37	1	175325554	175325554	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:175325554G>A	ENST00000367674.2	-	16	3727	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	TNR_ENST00000263525.2_Missense_Mutation_p.R1007W			Q92752	TENR_HUMAN	tenascin R	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1007W(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAACAAGCCGAAATTCCTCA	0.473																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											189.0	152.0	165.0					1																	175325554		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3019C>T	1.37:g.175325554G>A	ENSP00000356646:p.Arg1007Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.R1007W	ENST00000367674.2	37	c.3019	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542069	0.85917	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57752	0.38;0.38	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063421	0.64402	D	0.000004	T	0.54464	0.1860	L	0.29908	0.895	0.40611	D	0.981677	P	0.45902	0.868	P	0.49301	0.606	T	0.58148	-0.7687	10	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1007	Q92752	TENR_HUMAN	W	1007;1007;917	ENSP00000356646:R1007W;ENSP00000263525:R1007W	ENSP00000263525:R1007W	R	-	1	2	TNR	173592177	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.387000	0.79785	2.681000	0.91329	0.655000	0.94253	CGG	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	497	0.00	0	G	NM_003285		175325554	175325554	-1	no_errors	ENST00000263525	ensembl	human	known	69_37n	missense	410	11.59	54	SNP	1.000	A
TNRC18	84629	genome.wustl.edu	37	7	5352859	5352859	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:5352859C>T	ENST00000430969.1	-	27	8011	c.7663G>A	c.(7663-7665)Gaa>Aaa	p.E2555K	TNRC18_ENST00000399537.4_Missense_Mutation_p.E2555K	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2555							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCGGACTCTTCGGCCCCGTCC	0.682																																						dbGAP											0													3.0	4.0	4.0					7																	5352859		1273	2930	4203	-	-	-	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7663G>A	7.37:g.5352859C>T	ENSP00000395538:p.Glu2555Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.E2555K	ENST00000430969.1	37	c.7663	CCDS47534.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.10|10.10	1.256407|1.256407	0.22965|0.22965	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000328270	T;T|.	0.05382|.	3.45;3.45|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.000000|.	0.38663|.	N|.	0.001620|.	T|T	0.42854|0.42854	0.1221|0.1221	L|L	0.40543|0.40543	1.245|1.245	0.27364|0.27364	N|N	0.955898|0.955898	P|.	0.42375|.	0.778|.	B|.	0.26864|.	0.074|.	T|T	0.30765|0.30765	-0.9967|-0.9967	10|5	0.07175|.	T|.	0.84|.	.|.	13.3635|13.3635	0.60669|0.60669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2555|.	O15417|.	TNC18_HUMAN|.	K|Q	2555|368	ENSP00000382452:E2555K;ENSP00000395538:E2555K|.	ENSP00000382452:E2555K|.	E|R	-|-	1|2	0|0	TNRC18|TNRC18	5319385|5319385	0.967000|0.967000	0.33354|0.33354	0.941000|0.941000	0.38009|0.38009	0.017000|0.017000	0.09413|0.09413	3.787000|3.787000	0.55439|0.55439	2.277000|2.277000	0.76020|0.76020	0.555000|0.555000	0.69702|0.69702	GAA|CGA	TNRC18	-	NULL	ENSG00000182095		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		31	0.00	0	C			5352859	5352859	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	missense	9	28.57	4	SNP	0.936	T
TNRC6A	27327	genome.wustl.edu	37	16	24802773	24802773	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:24802773C>T	ENST00000395799.3	+	6	2939	c.2810C>T	c.(2809-2811)tCg>tTg	p.S937L	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S937L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	937	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGGGAGATTCGTCAAAGCCA	0.498																																						dbGAP											0													62.0	62.0	62.0					16																	24802773		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2810C>T	16.37:g.24802773C>T	ENSP00000379144:p.Ser937Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.S937L	ENST00000395799.3	37	c.2810	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215656	0.58452	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12465	2.68;2.69	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000032	T	0.11281	0.0275	L	0.44542	1.39	0.80722	D	1	P;P;P	0.43431	0.625;0.807;0.734	B;B;B	0.32583	0.088;0.148;0.101	T	0.03166	-1.1065	10	0.51188	T	0.08	-3.5244	12.717	0.57121	0.0:0.9246:0.0:0.0754	.	684;937;937	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	L	937	ENSP00000326900:S937L;ENSP00000379144:S937L	ENSP00000326900:S937L	S	+	2	0	TNRC6A	24710274	0.970000	0.33590	0.999000	0.59377	0.993000	0.82548	3.702000	0.54800	2.569000	0.86673	0.655000	0.94253	TCG	TNRC6A	-	NULL	ENSG00000090905		0.498	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	75	0.00	0	C	NM_020847		24802773	24802773	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	45	31.82	21	SNP	0.994	T
TNS3	64759	genome.wustl.edu	37	7	47342705	47342705	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47342705C>A	ENST00000398879.1	-	22	3666	c.3300G>T	c.(3298-3300)gaG>gaT	p.E1100D	TNS3_ENST00000311160.9_Missense_Mutation_p.E1100D|TNS3_ENST00000355730.3_Missense_Mutation_p.E860D			Q68CZ2	TENS3_HUMAN	tensin 3	1100					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CCCGCTTCTTCTCAGGGAGGG	0.662																																						dbGAP											0													25.0	30.0	28.0					7																	47342705		1949	4138	6087	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3300G>T	7.37:g.47342705C>A	ENSP00000381854:p.Glu1100Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E1100D	ENST00000398879.1	37	c.3300	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	34	5.299227	0.95574	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.98090	-3.54;-3.54;-4.1;-4.71	5.66	5.66	0.87406	.	0.172570	0.39834	N	0.001256	D	0.97517	0.9187	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	D	0.97827	1.0260	10	0.48119	T	0.1	-54.33	17.2371	0.87002	0.0:1.0:0.0:0.0	.	1100	Q68CZ2	TENS3_HUMAN	D	1100;1210;1100;860;556;1203	ENSP00000312143:E1100D;ENSP00000381854:E1100D;ENSP00000347968:E860D;ENSP00000414358:E1203D	ENSP00000312143:E1100D	E	-	3	2	TNS3	47309230	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.501000	0.60393	2.662000	0.90505	0.555000	0.69702	GAG	TNS3	-	NULL	ENSG00000136205		0.662	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	77	0.00	0	C	NM_022748		47342705	47342705	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	1.000	A
TNS3	64759	genome.wustl.edu	37	7	47436496	47436496	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47436496C>T	ENST00000398879.1	-	16	1291	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	TNS3_ENST00000311160.9_Missense_Mutation_p.E309K|TNS3_ENST00000355730.3_Intron			Q68CZ2	TENS3_HUMAN	tensin 3	309					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TACAAGTGTTCGGACCCTGCA	0.537																																						dbGAP											0													151.0	163.0	159.0					7																	47436496		2168	4264	6432	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.925G>A	7.37:g.47436496C>T	ENSP00000381854:p.Glu309Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E309K	ENST00000398879.1	37	c.925	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846147	0.51164	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.62	4.62	0.57501	.	0.447465	0.25411	N	0.030869	T	0.22003	0.0530	M	0.79926	2.475	0.80722	D	1	P	0.49358	0.923	B	0.30943	0.122	T	0.21759	-1.0236	10	0.39692	T	0.17	-26.4248	13.3088	0.60368	0.0:1.0:0.0:0.0	.	309	Q68CZ2	TENS3_HUMAN	K	309;419;309;412;398	ENSP00000312143:E309K;ENSP00000381854:E309K;ENSP00000414358:E412K;ENSP00000396914:E398K	ENSP00000312143:E309K	E	-	1	0	TNS3	47403021	1.000000	0.71417	0.159000	0.22649	0.276000	0.26787	6.572000	0.74005	2.277000	0.76020	0.561000	0.74099	GAA	TNS3	-	NULL	ENSG00000136205		0.537	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	270	0.00	0	C	NM_022748		47436496	47436496	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	204	24.72	67	SNP	0.858	T
TNS3	64759	genome.wustl.edu	37	7	47463778	47463778	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:47463778C>T	ENST00000398879.1	-	10	760	c.394G>A	c.(394-396)Gac>Aac	p.D132N	TNS3_ENST00000442536.2_Missense_Mutation_p.D132N|TNS3_ENST00000311160.9_Missense_Mutation_p.D132N|TNS3_ENST00000355730.3_Missense_Mutation_p.D132N|TNS3_ENST00000458317.2_Missense_Mutation_p.D132N			Q68CZ2	TENS3_HUMAN	tensin 3	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGGCCTGGTCGGCGCTGAAG	0.493																																						dbGAP											0													69.0	68.0	69.0					7																	47463778		1909	4119	6028	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.394G>A	7.37:g.47463778C>T	ENSP00000381854:p.Asp132Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D132N	ENST00000398879.1	37	c.394	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526781	0.85706	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929	D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	5.45	5.45	0.79879	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.76838	2.35	0.51482	D	0.999928	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.99425	1.0934	10	0.59425	D	0.04	-46.4936	14.7597	0.69596	0.0:1.0:0.0:0.0	.	132;132	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	N	132;242;132;132;235;221;132;132;132	ENSP00000312143:D132N;ENSP00000381854:D132N;ENSP00000347968:D132N;ENSP00000414358:D235N;ENSP00000396914:D221N;ENSP00000389285:D132N;ENSP00000388318:D132N;ENSP00000409415:D132N	ENSP00000312143:D132N	D	-	1	0	TNS3	47430303	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	6.503000	0.73699	2.541000	0.85698	0.462000	0.41574	GAC	TNS3	-	smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000136205		0.493	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	108	0.00	0	C	NM_022748		47463778	47463778	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	66	29.03	27	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32039946	32039946	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:32039946A>C	ENST00000375244.3	-	13	5012	c.4811T>G	c.(4810-4812)tTc>tGc	p.F1604C	TNXB_ENST00000375247.2_Missense_Mutation_p.F1604C			P22105	TENX_HUMAN	tenascin XB	1686	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAAGGAGTCGAATTCACCCTC	0.617																																						dbGAP											0													32.0	34.0	33.0					6																	32039946		1975	4137	6112	-	-	-	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4811T>G	6.37:g.32039946A>C	ENSP00000364393:p.Phe1604Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.F1604C	ENST00000375244.3	37	c.4811		6	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311640	0.60414	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58797	0.31;0.31	5.09	5.09	0.68999	.	0.148407	0.31145	N	0.008165	T	0.75369	0.3840	H	0.95365	3.66	0.20196	N	0.999922	D	0.76494	0.999	D	0.66716	0.946	T	0.74025	-0.3797	10	0.72032	D	0.01	.	12.4	0.55407	1.0:0.0:0.0:0.0	.	1604	P22105-3	.	C	1604	ENSP00000364393:F1604C;ENSP00000364396:F1604C	ENSP00000364393:F1604C	F	-	2	0	TNXB	32147924	0.998000	0.40836	0.248000	0.24265	0.876000	0.50452	5.756000	0.68757	1.919000	0.55581	0.482000	0.46254	TTC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	75	0.00	0	A	NM_019105		32039946	32039946	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.404	C
TOMM34	10953	genome.wustl.edu	37	20	43571812	43571813	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43571812_43571813insA	ENST00000372813.3	-	7	1019_1020	c.867_868insT	c.(865-870)cagattfs	p.I290fs	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	290					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				CTAGGCTCAATCTGTAGGAGGT	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.867_868insT	20.37:g.43571812_43571813insA	ENSP00000361900:p.Ile290fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Frame_Shift_Ins	INS	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I289fs	ENST00000372813.3	37	c.868_867	CCDS13340.1	20																																																																																			TOMM34	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000025772		0.510	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	423	0.00	0	-	NM_006809		43571812	43571813	-1	no_errors	ENST00000372813	ensembl	human	known	69_37n	frame_shift_ins	478	11.15	60	INS	0.916:0.380	A
TOMM34	10953	genome.wustl.edu	37	20	43571813	43571814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43571813_43571814insA	ENST00000372813.3	-	7	1018_1019	c.866_867insT	c.(865-867)cagfs	p.Q289fs	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	289					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TAGGCTCAATCTGTAGGAGGTT	0.515																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.866_867insT	20.37:g.43571813_43571814insA	ENSP00000361900:p.Gln289fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Frame_Shift_Ins	INS	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q289fs	ENST00000372813.3	37	c.867_866	CCDS13340.1	20																																																																																			TOMM34	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000025772		0.515	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	420	0.00	0	-	NM_006809		43571813	43571814	-1	no_errors	ENST00000372813	ensembl	human	known	69_37n	frame_shift_ins	449	11.79	60	INS	0.380:0.768	A
TOMM34	10953	genome.wustl.edu	37	20	43571825	43571826	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43571825_43571826insT	ENST00000372813.3	-	7	1006_1007	c.854_855insA	c.(853-855)agcfs	p.S285fs	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	285					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTAGGAGGTTGCTGATGTCTGC	0.515																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.854_855insA	20.37:g.43571825_43571826insT	ENSP00000361900:p.Ser285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Frame_Shift_Ins	INS	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S285fs	ENST00000372813.3	37	c.855_854	CCDS13340.1	20																																																																																			TOMM34	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000025772		0.515	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	385	0.00	0	-	NM_006809		43571825	43571826	-1	no_errors	ENST00000372813	ensembl	human	known	69_37n	frame_shift_ins	408	12.82	60	INS	1.000:1.000	T
TOP2B	7155	genome.wustl.edu	37	3	25650761	25650761	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:25650761A>G	ENST00000264331.4	-	30	4005	c.4006T>C	c.(4006-4008)Tca>Cca	p.S1336P	TOP2B_ENST00000540199.1_Missense_Mutation_p.S188P|TOP2B_ENST00000435706.2_Missense_Mutation_p.S1331P|TOP2B_ENST00000542520.1_Missense_Mutation_p.S188P	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1336					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TCATCATCTGACCAAGGATTC	0.393																																						dbGAP											0													87.0	78.0	81.0					3																	25650761		1838	4097	5935	-	-	-	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4006T>C	3.37:g.25650761A>G	ENSP00000264331:p.Ser1336Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.S1336P	ENST00000264331.4	37	c.4006		3	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761028	0.89932	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.58060	0.36;0.78;0.78;0.36	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.73646	-0.3917	10	0.52906	T	0.07	-9.1489	15.5688	0.76317	1.0:0.0:0.0:0.0	.	1336;1331	Q02880;Q02880-2	TOP2B_HUMAN;.	P	188;1331;1336;188	ENSP00000446023:S188P;ENSP00000396704:S1331P;ENSP00000264331:S1336P;ENSP00000437352:S188P	ENSP00000264331:S1336P	S	-	1	0	TOP2B	25625765	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.069000	0.93967	2.090000	0.63153	0.477000	0.44152	TCA	TOP2B	-	NULL	ENSG00000077097		0.393	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		210	0.00	0	A			25650761	25650761	-1	no_errors	ENST00000264331	ensembl	human	known	69_37n	missense	133	10.07	15	SNP	1.000	G
TOPORS	10210	genome.wustl.edu	37	9	32542676	32542676	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:32542676C>T	ENST00000360538.2	-	3	1963	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	TOPORS_ENST00000379858.1_Missense_Mutation_p.R551K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	616	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATGATGCTTTCTATGATTCTT	0.398																																						dbGAP											0													277.0	273.0	274.0					9																	32542676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1847G>A	9.37:g.32542676C>T	ENSP00000353735:p.Arg616Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R616K	ENST00000360538.2	37	c.1847	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359769	0.41801	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18016	2.24;2.32	5.9	5.9	0.94986	.	0.000000	0.49305	D	0.000148	T	0.20981	0.0505	L	0.27053	0.805	0.35387	D	0.790409	D	0.56521	0.976	P	0.52343	0.696	T	0.07751	-1.0756	10	0.66056	D	0.02	-22.1987	13.0574	0.58988	0.0:0.9233:0.0:0.0767	.	616	Q9NS56	TOPRS_HUMAN	K	616;551	ENSP00000353735:R616K;ENSP00000369187:R551K	ENSP00000353735:R616K	R	-	2	0	TOPORS	32532676	0.912000	0.30974	0.997000	0.53966	0.916000	0.54674	2.478000	0.45189	2.788000	0.95919	0.650000	0.86243	AGA	TOPORS	-	NULL	ENSG00000197579		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1	238	0.00	0	C	NM_005802		32542676	32542676	-1	no_errors	ENST00000360538	ensembl	human	known	69_37n	missense	176	10.66	21	SNP	0.983	T
TOR1B	27348	genome.wustl.edu	37	9	132569511	132569511	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:132569511G>A	ENST00000259339.2	+	3	570	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	170					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGCATGTGCGAACTCTGTTT	0.483																																						dbGAP											0													197.0	174.0	182.0					9																	132569511		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.510G>A	9.37:g.132569511G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr	p.A170	ENST00000259339.2	37	c.510	CCDS6929.1	9																																																																																			TOR1B	-	pfam_Torsin,pfam_ATPase_AAA_core,pirsf_Torsin_subgr	ENSG00000136816		0.483	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1B	HGNC	protein_coding	OTTHUMT00000054615.1	182	0.00	0	G	NM_014506		132569511	132569511	+1	no_errors	ENST00000259339	ensembl	human	known	69_37n	silent	66	42.11	48	SNP	0.000	A
TOR1A	1861	genome.wustl.edu	37	9	132576040	132576040	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:132576040C>T	ENST00000351698.4	-	0	1258					NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)						ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TGTGCGTGTTCGGGAGGCTTC	0.527																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.*211G>A	9.37:g.132576040C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB58|Q53Y64|Q96CA0	RNA	SNP	-	NULL	ENST00000351698.4	37	NULL	CCDS6930.1	9																																																																																			TOR1A	-	-	ENSG00000136827		0.527	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	11	0.00	0	C	NM_000113		132576040	132576040	-1	no_errors	ENST00000474192	ensembl	human	known	69_37n	rna	7	41.67	5	SNP	0.000	T
TOX3	27324	genome.wustl.edu	37	16	52498061	52498061	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:52498061C>T	ENST00000219746.9	-	3	477	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	TOX3_ENST00000407228.3_Missense_Mutation_p.E60K	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	65					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.E65*(1)|p.E60*(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGTGGAATTTCGAATTCCTCG	0.498																																						dbGAP											2	Substitution - Nonsense(2)	prostate(2)											144.0	158.0	154.0					16																	52498061		2070	4201	6271	-	-	-	SO:0001583	missense	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.193G>A	16.37:g.52498061C>T	ENSP00000219746:p.Glu65Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E65K	ENST00000219746.9	37	c.193	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993938	0.93167	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.56776	0.44;0.44	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.981	T	0.76397	-0.2974	10	0.72032	D	0.01	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	60;65	B4DRD0;O15405	.;TOX3_HUMAN	K	65;60	ENSP00000219746:E65K;ENSP00000385705:E60K	ENSP00000219746:E65K	E	-	1	0	TOX3	51055562	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.818000	0.86416	2.806000	0.96561	0.655000	0.94253	GAA	TOX3	-	NULL	ENSG00000103460		0.498	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	353	0.00	0	C	XM_049037		52498061	52498061	-1	no_errors	ENST00000219746	ensembl	human	known	69_37n	missense	120	24.38	39	SNP	1.000	T
TOX4	9878	genome.wustl.edu	37	14	21957455	21957455	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:21957455C>T	ENST00000405508.1	+	6	979	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	TOX4_ENST00000448790.2_Missense_Mutation_p.R212C|TOX4_ENST00000262709.3_Missense_Mutation_p.R235C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	235						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TTTATTCTTTCGTGATACACA	0.448																																						dbGAP											0													165.0	176.0	172.0					14																	21957455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.703C>T	14.37:g.21957455C>T	ENSP00000385102:p.Arg235Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R235C	ENST00000405508.1	37	c.703	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855167	0.71719	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	D;D;D	0.98060	-4.69;-4.69;-4.69	5.02	5.02	0.67125	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98877	0.9620	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.87578	0.998;0.893	D	0.99541	1.0963	10	0.87932	D	0	.	17.6335	0.88115	0.0:1.0:0.0:0.0	.	212;235	B4DPY8;O94842	.;TOX4_HUMAN	C	235;235;212;163	ENSP00000385102:R235C;ENSP00000262709:R235C;ENSP00000393080:R212C	ENSP00000262709:R235C	R	+	1	0	TOX4	21027295	0.997000	0.39634	0.999000	0.59377	0.995000	0.86356	1.989000	0.40707	2.773000	0.95371	0.655000	0.94253	CGT	TOX4	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000092203		0.448	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	321	0.00	0	C	NM_014828		21957455	21957455	+1	no_errors	ENST00000262709	ensembl	human	known	69_37n	missense	261	10.58	31	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7579882	7579882	+	Missense_Mutation	SNP	C	C	T	rs201382018		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:7579882C>T	ENST00000269305.4	-	2	220	c.31G>A	c.(31-33)Gag>Aag	p.E11K	TP53_ENST00000359597.4_Missense_Mutation_p.E11K|TP53_ENST00000455263.2_Missense_Mutation_p.E11K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E11K|TP53_ENST00000413465.2_Missense_Mutation_p.E11K|TP53_ENST00000445888.2_Missense_Mutation_p.E11K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	11	Interaction with HRMT1L2.|Transcription activation (acidic).		E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E11Q(15)|p.0?(8)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGAGGGGGCTCGACGCTAGGA	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	23	Substitution - Missense(15)|Whole gene deletion(8)	haematopoietic_and_lymphoid_tissue(7)|lung(4)|bone(4)|large_intestine(2)|stomach(2)|central_nervous_system(2)|breast(1)|prostate(1)											51.0	45.0	47.0					17																	7579882		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.31G>A	17.37:g.7579882C>T	ENSP00000269305:p.Glu11Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E11K	ENST00000269305.4	37	c.31	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006438	0.54361	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99537	-5.63;-6.11;-5.77;-6.1;-6.1;-5.77;-5.92;-4.5;-2.59	5.36	5.36	0.76844	p53 transactivation domain (1);	0.855707	0.10714	N	0.642557	D	0.99527	0.9831	M	0.78637	2.42	0.20926	N	0.999823	D;D;D;P;D;D;D	0.67145	0.996;0.991;0.964;0.851;0.986;0.993;0.989	P;P;P;B;P;P;P	0.62184	0.899;0.715;0.458;0.131;0.815;0.823;0.683	D	0.99402	1.0928	10	0.72032	D	0.01	-14.0969	14.9637	0.71174	0.0:1.0:0.0:0.0	.	11;11;11;11;11;11;11	E7EMR6;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	K	11	ENSP00000410739:E11K;ENSP00000352610:E11K;ENSP00000269305:E11K;ENSP00000398846:E11K;ENSP00000391127:E11K;ENSP00000391478:E11K;ENSP00000423862:E11K;ENSP00000424104:E11K;ENSP00000426252:E11K	ENSP00000269305:E11K	E	-	1	0	TP53	7520607	0.849000	0.29639	0.092000	0.20876	0.069000	0.16628	3.820000	0.55693	2.688000	0.91661	0.561000	0.74099	GAG	TP53	-	pfam_p53_transactivation_domain	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	271	0.00	0	C	NM_000546		7579882	7579882	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	127	20.50	33	SNP	0.191	T
TP53BP1	7158	genome.wustl.edu	37	15	43707863	43707863	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43707863C>A	ENST00000263801.3	-	23	5255	c.5003G>T	c.(5002-5004)aGa>aTa	p.R1668I	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1673I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1623I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1673I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1668					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1668I(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATAAGTTTTCTTTTGCCTGA	0.532								Other conserved DNA damage response genes																														dbGAP											1	Substitution - Missense(1)	large_intestine(1)											151.0	137.0	142.0					15																	43707863		2201	4298	6499	-	-	-	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5003G>T	15.37:g.43707863C>A	ENSP00000263801:p.Arg1668Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.R1673I	ENST00000263801.3	37	c.5018	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.254935	0.95336	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.08282	3.3;3.3;3.42;3.11	5.24	5.24	0.73138	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.00309	-1.1828	10	0.54805	T	0.06	-12.3268	19.1943	0.93681	0.0:1.0:0.0:0.0	.	1673;1668;1673;1673	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	1668;1673;1623;1673	ENSP00000263801:R1668I;ENSP00000371475:R1673I;ENSP00000371470:R1623I;ENSP00000393497:R1673I	ENSP00000263801:R1668I	R	-	2	0	TP53BP1	41495155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.579000	0.74036	2.607000	0.88179	0.563000	0.77884	AGA	TP53BP1	-	smart_BRCT_dom	ENSG00000067369		0.532	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	287	0.35	1	C			43707863	43707863	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	218	26.42	79	SNP	1.000	A
TP53BP2	7159	genome.wustl.edu	37	1	224002010	224002010	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:224002010C>T	ENST00000343537.7	-	3	512	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	68					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ACTTCCAAATCGTTGAAGAAC	0.418																																						dbGAP											0													126.0	126.0	126.0					1																	224002010		1914	4137	6051	-	-	-	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.221G>A	1.37:g.224002010C>T	ENSP00000341957:p.Arg74Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R74Q	ENST00000343537.7	37	c.221	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077813	0.55753	.	.	ENSG00000143514	ENST00000343537	T	0.76186	-1.0	5.61	4.69	0.59074	.	0.127979	0.51477	D	0.000081	T	0.52306	0.1726	N	0.19112	0.55	0.42385	D	0.992508	P	0.46020	0.871	B	0.33392	0.163	T	0.55749	-0.8092	10	0.32370	T	0.25	.	10.1894	0.43017	0.0:0.8521:0.0:0.1479	.	74	B4DG66	.	Q	74	ENSP00000341957:R74Q	ENSP00000341957:R74Q	R	-	2	0	TP53BP2	222068633	0.091000	0.21658	0.067000	0.19924	0.942000	0.58702	2.082000	0.41605	2.654000	0.90174	0.563000	0.77884	CGA	TP53BP2	-	NULL	ENSG00000143514		0.418	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	104	0.00	0	C	NM_001031685, NM_005426		224002010	224002010	-1	no_errors	ENST00000343537	ensembl	human	known	69_37n	missense	81	29.91	35	SNP	0.237	T
TP53TG5	27296	genome.wustl.edu	37	20	44004147	44004147	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:44004147G>A	ENST00000372726.3	-	4	456	c.300C>T	c.(298-300)ttC>ttT	p.F100F	SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Silent_p.F84F|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	100					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CGATCTCCTGGAACTCTTCAT	0.507																																						dbGAP											0													95.0	104.0	101.0					20																	44004147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.300C>T	20.37:g.44004147G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.F100	ENST00000372726.3	37	c.300	CCDS13352.1	20																																																																																			TP53TG5	-	NULL	ENSG00000124251		0.507	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	172	0.00	0	G	NM_014477		44004147	44004147	-1	no_errors	ENST00000372726	ensembl	human	known	69_37n	silent	114	10.94	14	SNP	0.717	A
TP53TG5	27296	genome.wustl.edu	37	20	44005868	44005868	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:44005868G>A	ENST00000372726.3	-	3	394	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.L64F|TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	80					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GAGATGCGGAGAATCTTTGGA	0.517																																						dbGAP											0													163.0	151.0	156.0					20																	44005868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.238C>T	20.37:g.44005868G>A	ENSP00000361811:p.Leu80Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L80F	ENST00000372726.3	37	c.238	CCDS13352.1	20	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204493	0.38905	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.26373	1.74;1.74	5.43	5.43	0.79202	.	0.110211	0.40640	N	0.001042	T	0.43055	0.1230	L	0.47190	1.495	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25117	-1.0141	10	0.72032	D	0.01	-8.459	12.8311	0.57746	0.0:0.1639:0.8361:0.0	.	80	Q9Y2B4	T53G5_HUMAN	F	80;64	ENSP00000361811:L80F;ENSP00000438374:L64F	ENSP00000361811:L80F	L	-	1	0	TP53TG5	43439282	0.190000	0.23276	0.037000	0.18230	0.213000	0.24496	2.292000	0.43549	2.720000	0.93068	0.591000	0.81541	CTC	TP53TG5	-	NULL	ENSG00000124251		0.517	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG5	HGNC	protein_coding	OTTHUMT00000079460.1	321	0.00	0	G	NM_014477		44005868	44005868	-1	no_errors	ENST00000372726	ensembl	human	known	69_37n	missense	204	13.19	31	SNP	0.091	A
TP63	8626	genome.wustl.edu	37	3	189526302	189526302	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:189526302C>T	ENST00000264731.3	+	4	655	c.566C>T	c.(565-567)tCg>tTg	p.S189L	TP63_ENST00000392460.3_Missense_Mutation_p.S189L|TP63_ENST00000320472.5_Missense_Mutation_p.S189L|TP63_ENST00000418709.2_Missense_Mutation_p.S189L|TP63_ENST00000392461.3_Missense_Mutation_p.S95L|TP63_ENST00000456148.1_Missense_Mutation_p.S95L|TP63_ENST00000392463.2_Missense_Mutation_p.S95L|TP63_ENST00000354600.5_Missense_Mutation_p.S95L|TP63_ENST00000437221.1_Missense_Mutation_p.S95L|TP63_ENST00000382063.4_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000440651.2_Missense_Mutation_p.S189L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	189					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCGCCAAGTCGGCCACCTGG	0.622										HNSCC(45;0.13)																												dbGAP											0													98.0	82.0	88.0					3																	189526302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.566C>T	3.37:g.189526302C>T	ENSP00000264731:p.Ser189Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.S189L	ENST00000264731.3	37	c.566	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.400564	0.96030	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.71	5.71	0.89125	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.116874	0.64402	D	0.000011	D	0.99880	0.9943	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;0.999;1.0;1.0;1.0;0.999	D	0.96875	0.9642	9	.	.	.	-5.1364	18.8374	0.92168	0.0:1.0:0.0:0.0	.	189;189;95;95;95;95;189;189;189	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	L	189;189;189;189;189;95;95;95;95;95;95	ENSP00000264731:S189L;ENSP00000407144:S189L;ENSP00000317510:S189L;ENSP00000376253:S189L;ENSP00000394337:S189L;ENSP00000346614:S95L;ENSP00000401661:S95L;ENSP00000392488:S95L;ENSP00000376256:S95L;ENSP00000376254:S95L;ENSP00000389485:S95L	.	S	+	2	0	TP63	191008996	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.818000	0.86416	2.701000	0.92244	0.563000	0.77884	TCG	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000073282		0.622	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	118	0.00	0	C	NM_003722		189526302	189526302	+1	no_errors	ENST00000264731	ensembl	human	known	69_37n	missense	92	12.38	13	SNP	1.000	T
TPH2	121278	genome.wustl.edu	37	12	72338142	72338142	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:72338142C>A	ENST00000333850.3	+	3	465	c.324C>A	c.(322-324)atC>atA	p.I108I	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	108	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGGTTGAAATCTTTGTGGACT	0.408																																						dbGAP											0													154.0	146.0	148.0					12																	72338142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.324C>A	12.37:g.72338142C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGA4|Q14CB0	Silent	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.I108	ENST00000333850.3	37	c.324	CCDS31859.1	12																																																																																			TPH2	-	pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.408	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	596	0.00	0	C	NM_173353		72338142	72338142	+1	no_errors	ENST00000333850	ensembl	human	known	69_37n	silent	394	27.71	151	SNP	1.000	A
TPK1	27010	genome.wustl.edu	37	7	144150592	144150592	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:144150592G>T	ENST00000360057.3	-	0	880				TPK1_ENST00000378099.3_3'UTR|TPK1_ENST00000547966.1_5'UTR|RNU6ATAC40P_ENST00000408580.1_RNA|TPK1_ENST00000538212.2_3'UTR|TPK1_ENST00000549981.1_3'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GAACTGTTGAGAAATGAGATA	0.458																																					Ovarian(45;88 1034 2073 5829 28455)	dbGAP											0													196.0	191.0	193.0					7																	144150592		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.*46C>A	7.37:g.144150592G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	RNA	SNP	-	NULL	ENST00000360057.3	37	NULL	CCDS5888.1	7																																																																																			TPK1	-	-	ENSG00000196511		0.458	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	HGNC	protein_coding	OTTHUMT00000327777.1	152	0.00	0	G	NM_022445		144150592	144150592	-1	no_errors	ENST00000547966	ensembl	human	known	69_37n	rna	125	11.97	17	SNP	0.000	T
TPM2	7169	genome.wustl.edu	37	9	35685746	35685746	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:35685746C>T	ENST00000360958.2	-	3	376	c.272G>A	c.(271-273)cGc>cAc	p.R91H	TPM2_ENST00000329305.2_Missense_Mutation_p.R91H|TPM2_ENST00000378300.5_Missense_Mutation_p.R91H|TPM2_ENST00000378292.3_Missense_Mutation_p.R91H	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	91			R -> G (in DA1A). {ECO:0000269|PubMed:12592607}.		muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTGAATGCGGCGGTTCAG	0.622																																						dbGAP											0													44.0	47.0	46.0					9																	35685746		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.272G>A	9.37:g.35685746C>T	ENSP00000354219:p.Arg91His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.R91H	ENST00000360958.2	37	c.272	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925246	0.73213	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.24	4.35	0.52113	.	.	.	.	.	D	0.93360	0.7883	M	0.94142	3.5	0.53005	D	0.999968	P;B;D;P;P	0.54397	0.94;0.014;0.966;0.755;0.711	P;B;P;P;B	0.60886	0.704;0.098;0.88;0.612;0.152	D	0.94855	0.8017	9	0.87932	D	0	.	13.58	0.61896	0.0:0.9248:0.0:0.0752	.	91;91;91;91;91	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	H	91	ENSP00000367550:R91H;ENSP00000367542:R91H;ENSP00000367541:R91H;ENSP00000354219:R91H	ENSP00000367541:R91H	R	-	2	0	TPM2	35675746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.635000	0.83286	1.448000	0.47680	0.655000	0.94253	CGC	TPM2	-	pfam_Tropomyosin,prints_Tropomyosin	ENSG00000198467		0.622	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	54	0.00	0	C	NM_003289		35685746	35685746	-1	no_errors	ENST00000378300	ensembl	human	known	69_37n	missense	37	26.42	14	SNP	1.000	T
TAF10	6881	genome.wustl.edu	37	11	6636546	6636546	+	5'Flank	SNP	C	C	T	rs577520250		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6636546C>T	ENST00000299424.4	-	0	0				TPP1_ENST00000534644.1_5'Flank|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000533371.1_Silent_p.T184T|TPP1_ENST00000299427.6_Silent_p.T427T	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGGAACTTCGTTACAGCTT	0.547																																						dbGAP											0													128.0	126.0	126.0					11																	6636546		2201	4296	6497	-	-	-	SO:0001631	upstream_gene_variant	0			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636546C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	O00703|Q13175|Q6FH13	Silent	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.T427	ENST00000299424.4	37	c.1281	CCDS7769.1	11																																																																																			TPP1	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000166340		0.547	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257259.2	225	0.00	0	C	NM_006284		6636546	6636546	-1	no_errors	ENST00000299427	ensembl	human	known	69_37n	silent	143	15.88	27	SNP	0.132	T
TPP2	7174	genome.wustl.edu	37	13	103296983	103296983	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:103296983C>A	ENST00000376065.4	+	18	2288	c.2252C>A	c.(2251-2253)tCt>tAt	p.S751Y	TPP2_ENST00000376052.3_Missense_Mutation_p.S751Y	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	751					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATACCATTTCTTTCCATGGG	0.348																																						dbGAP											0													168.0	142.0	150.0					13																	103296983		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2252C>A	13.37:g.103296983C>A	ENSP00000365233:p.Ser751Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.S751Y	ENST00000376065.4	37	c.2252	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642536	0.87859	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	L	0.56769	1.78	0.80722	D	1	D	0.56521	0.976	P	0.51016	0.656	T	0.66897	-0.5807	9	0.48119	T	0.1	.	19.391	0.94583	0.0:1.0:0.0:0.0	.	751	P29144	TPP2_HUMAN	Y	751	.	ENSP00000365220:S751Y	S	+	2	0	TPP2	102094984	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.036000	0.76524	2.657000	0.90304	0.586000	0.80456	TCT	TPP2	-	NULL	ENSG00000134900		0.348	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	449	0.00	0	C			103296983	103296983	+1	no_errors	ENST00000376065	ensembl	human	known	69_37n	missense	288	20.66	75	SNP	1.000	A
TPR	7175	genome.wustl.edu	37	1	186301472	186301472	+	Missense_Mutation	SNP	G	G	A	rs533241956		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:186301472G>A	ENST00000367478.4	-	38	5755	c.5459C>T	c.(5458-5460)tCg>tTg	p.S1820L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1820	Sufficient and essential for mediating its nuclear import.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGGGGTAGCCGAAACTTTGAA	0.373			T	NTRK1	papillary thyroid								G|||	1	0.000199681	0.0008	0.0	5008	,	,		17836	0.0		0.0	False		,,,				2504	0.0					dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													61.0	57.0	58.0					1																	186301472		1836	4076	5912	-	-	-	SO:0001583	missense	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5459C>T	1.37:g.186301472G>A	ENSP00000356448:p.Ser1820Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.S1820L	ENST00000367478.4	37	c.5459	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773006	0.90108	.	.	ENSG00000047410	ENST00000367478	T	0.26810	1.71	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.71581	2.175	0.80722	D	1	D	0.53745	0.962	B	0.39027	0.288	T	0.43163	-0.9408	10	0.72032	D	0.01	.	17.5243	0.87795	0.0:0.0:1.0:0.0	.	1820	P12270	TPR_HUMAN	L	1820	ENSP00000356448:S1820L	ENSP00000356448:S1820L	S	-	2	0	TPR	184568095	1.000000	0.71417	0.994000	0.49952	0.833000	0.47200	7.620000	0.83070	2.111000	0.64477	0.563000	0.77884	TCG	TPR	-	NULL	ENSG00000047410		0.373	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	114	0.00	0	G	NM_003292		186301472	186301472	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	72	16.09	14	SNP	1.000	A
TPTE2	93492	genome.wustl.edu	37	13	19997290	19997290	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:19997290C>A	ENST00000400230.2	-	20	1525	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I	TPTE2_ENST00000382978.1_Missense_Mutation_p.R454I|TPTE2_ENST00000390680.2_Missense_Mutation_p.R417I|TPTE2_ENST00000382977.4_Missense_Mutation_p.R494I|TPTE2_ENST00000382975.4_Missense_Mutation_p.R454I|TPTE2_ENST00000457266.2_Missense_Mutation_p.R383I|TPTE2_ENST00000255310.6_Missense_Mutation_p.R417I|TPTE2_ENST00000400103.2_Missense_Mutation_p.R383I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	494	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CAATTCATTTCTTGGTAGACA	0.368																																						dbGAP											0													62.0	61.0	61.0					13																	19997290		2167	4283	6450	-	-	-	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1481G>T	13.37:g.19997290C>A	ENSP00000383089:p.Arg494Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R494I	ENST00000400230.2	37	c.1481	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	c	10.49	1.363789	0.24684	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	2.09	2.09	0.27110	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.055851	0.64402	U	0.000001	D	0.90521	0.7030	M	0.82517	2.595	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.75484	0.986;0.942;0.975	D	0.89446	0.3727	9	.	.	.	-14.5757	7.7828	0.29074	0.0:1.0:0.0:0.0	.	383;417;494	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	I	454;383;494;417;417;494;454;383	ENSP00000372438:R454I;ENSP00000382974:R383I;ENSP00000383089:R494I;ENSP00000255310:R417I;ENSP00000375098:R417I;ENSP00000372437:R494I;ENSP00000372435:R454I;ENSP00000442218:R383I	.	R	-	2	0	TPTE2	18895290	1.000000	0.71417	0.834000	0.33040	0.109000	0.19521	4.185000	0.58330	1.477000	0.48234	0.400000	0.26472	AGA	TPTE2	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom	ENSG00000132958		0.368	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		542	0.00	0	C	NM_199254		19997290	19997290	-1	no_errors	ENST00000382977	ensembl	human	known	69_37n	missense	418	13.81	67	SNP	0.920	A
TPTE2	93492	genome.wustl.edu	37	13	20039678	20039678	+	Missense_Mutation	SNP	C	C	T	rs555974519	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:20039678C>T	ENST00000400230.2	-	8	583	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE2_ENST00000382978.1_Missense_Mutation_p.R140Q|TPTE2_ENST00000390680.2_Missense_Mutation_p.R103Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R180Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R140Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R69Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R103Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R69Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	180					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAATAAGTCGTAGAAGTCG	0.313													c|||	2	0.000399361	0.0	0.0	5008	,	,		18882	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													39.0	37.0	38.0					13																	20039678		2200	4299	6499	-	-	-	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.539G>A	13.37:g.20039678C>T	ENSP00000383089:p.Arg180Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R180Q	ENST00000400230.2	37	c.539	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	c	14.07	2.426882	0.43020	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98617	-5.03;-3.84;-5.03;-5.03;-5.03;-5.03;-5.03;-3.84	2.79	1.02	0.19986	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98748	0.9579	M	0.86864	2.845	0.18873	N	0.999989	P;D;D	0.89917	0.48;0.99;1.0	B;P;D	0.80764	0.034;0.735;0.994	D	0.95149	0.8271	9	.	.	.	-4.2096	4.8643	0.13600	0.0:0.6991:0.0:0.3009	.	69;103;180	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	140;69;180;103;103;180;140;69;180;49	ENSP00000372438:R140Q;ENSP00000382974:R69Q;ENSP00000383089:R180Q;ENSP00000255310:R103Q;ENSP00000375098:R103Q;ENSP00000372437:R180Q;ENSP00000372435:R140Q;ENSP00000442218:R69Q	.	R	-	2	0	TPTE2	18937678	1.000000	0.71417	0.001000	0.08648	0.005000	0.04900	4.605000	0.61119	0.231000	0.21079	-0.373000	0.07131	CGA	TPTE2	-	pfam_Ion_trans_dom	ENSG00000132958		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		195	0.00	0	C	NM_199254		20039678	20039678	-1	no_errors	ENST00000382977	ensembl	human	known	69_37n	missense	147	24.23	47	SNP	0.014	T
TRA2A	29896	genome.wustl.edu	37	7	23545763	23545763	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:23545763C>T	ENST00000297071.4	-	6	980	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	TRA2A_ENST00000538367.1_Missense_Mutation_p.R154Q|TRA2A_ENST00000392502.4_Missense_Mutation_p.R154Q|TRA2A_ENST00000474586.1_5'Flank	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	255	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTACCTGTATCGGTAATCATA	0.398																																					Pancreas(121;2137 2973 46590)	dbGAP											0													107.0	113.0	111.0					7																	23545763		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.764G>A	7.37:g.23545763C>T	ENSP00000297071:p.Arg255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R255Q	ENST00000297071.4	37	c.764	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289979	0.59976	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.27256	1.68;1.75;1.75	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	M	0.82056	2.57	0.52501	D	0.999959	P	0.41102	0.738	B	0.29663	0.105	T	0.27157	-1.0082	10	0.24483	T	0.36	-1.8211	18.9064	0.92464	0.0:1.0:0.0:0.0	.	255	Q13595	TRA2A_HUMAN	Q	255;154;154	ENSP00000297071:R255Q;ENSP00000376290:R154Q;ENSP00000441116:R154Q	ENSP00000297071:R255Q	R	-	2	0	TRA2A	23512288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.394000	0.66285	2.547000	0.85894	0.650000	0.86243	CGA	TRA2A	-	NULL	ENSG00000164548		0.398	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	184	0.00	0	C	NM_013293		23545763	23545763	-1	no_errors	ENST00000297071	ensembl	human	known	69_37n	missense	137	23.89	43	SNP	1.000	T
TRAF5	7188	genome.wustl.edu	37	1	211533168	211533168	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:211533168C>A	ENST00000261464.5	+	5	432				TRAF5_ENST00000336184.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5						apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CCACCCTGTTCTCTCTCCCTC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.379-86C>A	1.37:g.211533168C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIS9|B4E0A2|Q6FHY1	RNA	SNP	-	NULL	ENST00000261464.5	37	NULL	CCDS1497.1	1																																																																																			TRAF5	-	-	ENSG00000082512		0.597	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	130	0.00	0	C	NM_004619		211533168	211533168	+1	no_errors	ENST00000462410	ensembl	human	known	69_37n	rna	114	12.98	17	SNP	0.001	A
TRAK2	66008	genome.wustl.edu	37	2	202245876	202245876	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:202245876G>T	ENST00000332624.3	-	16	2563	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	712					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CAAGGCAGGAGAATTCACAGC	0.453																																						dbGAP											0													64.0	67.0	66.0					2																	202245876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2135C>A	2.37:g.202245876G>T	ENSP00000328875:p.Ser712Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.S712Y	ENST00000332624.3	37	c.2135	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731927	0.69189	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.07567	3.18	5.45	5.45	0.79879	Trafficking kinesin-binding protein domain (1);	0.068484	0.56097	D	0.000022	T	0.17109	0.0411	L	0.29908	0.895	0.80722	D	1	D	0.61080	0.989	P	0.61070	0.883	T	0.00870	-1.1533	10	0.46703	T	0.11	.	17.4552	0.87605	0.0:0.0:1.0:0.0	.	712	O60296	TRAK2_HUMAN	Y	712;618	ENSP00000328875:S712Y	ENSP00000328875:S712Y	S	-	2	0	TRAK2	201954121	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	5.396000	0.66297	2.548000	0.85928	0.591000	0.81541	TCT	TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.453	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	117	0.00	0	G	NM_015049		202245876	202245876	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	78	17.02	16	SNP	1.000	T
TRAK2	66008	genome.wustl.edu	37	2	202254599	202254599	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:202254599G>T	ENST00000332624.3	-	11	1546	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	373	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGCTGCCAAAGATTCCTAAGA	0.338																																						dbGAP											0													115.0	124.0	121.0					2																	202254599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1118C>A	2.37:g.202254599G>T	ENSP00000328875:p.Ser373Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.S373Y	ENST00000332624.3	37	c.1118	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001414	0.93227	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.17370	2.28	5.9	5.9	0.94986	.	0.066164	0.64402	D	0.000006	T	0.47507	0.1449	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.42344	-0.9457	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	373	O60296	TRAK2_HUMAN	Y	373;279	ENSP00000328875:S373Y	ENSP00000328875:S373Y	S	-	2	0	TRAK2	201962844	1.000000	0.71417	0.966000	0.40874	0.953000	0.61014	6.400000	0.73252	2.788000	0.95919	0.650000	0.86243	TCT	TRAK2	-	NULL	ENSG00000115993		0.338	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	201	0.00	0	G	NM_015049		202254599	202254599	-1	no_errors	ENST00000332624	ensembl	human	known	69_37n	missense	177	10.61	21	SNP	1.000	T
TRAM1	23471	genome.wustl.edu	37	8	71520436	71520436	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:71520436G>A	ENST00000262213.2	-	0	168				RP11-382J12.1_ENST00000499227.2_5'Flank|TRAM1_ENST00000521425.1_5'Flank|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Intron	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1						cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AATCGCCATGGTGGGGCCGCC	0.677																																					Ovarian(85;984 1334 5116 12432 40638)	dbGAP											0													53.0	58.0	56.0					8																	71520436		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.-2C>T	8.37:g.71520436G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0K2	RNA	SNP	-	NULL	ENST00000262213.2	37	NULL	CCDS6207.1	8																																																																																			TRAM1	-	-	ENSG00000067167		0.677	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1	54	0.00	0	G	NM_014294		71520436	71520436	-1	no_errors	ENST00000521049	ensembl	human	putative	69_37n	rna	29	12.12	4	SNP	0.998	A
TRANK1	9881	genome.wustl.edu	37	3	36898426	36898426	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:36898426C>A	ENST00000429976.2	-	12	2902	c.2655G>T	c.(2653-2655)gaG>gaT	p.E885D	TRANK1_ENST00000301807.6_Missense_Mutation_p.E335D|TRANK1_ENST00000428977.2_Missense_Mutation_p.E335D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	885							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCCTGATTTCTCCATTGCAC	0.527																																						dbGAP											0													55.0	51.0	52.0					3																	36898426		1980	4157	6137	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2655G>T	3.37:g.36898426C>A	ENSP00000416168:p.Glu885Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.E885D	ENST00000429976.2	37	c.2655	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	4.245	0.044447	0.08196	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35605	1.3;1.72;1.3	5.49	2.67	0.31697	.	0.191970	0.36234	N	0.002719	T	0.18045	0.0433	L	0.29908	0.895	0.36439	D	0.865369	P	0.42871	0.792	B	0.35182	0.197	T	0.17837	-1.0356	10	0.16420	T	0.52	.	4.837	0.13469	0.138:0.5465:0.0:0.3155	.	885	O15050	TRNK1_HUMAN	D	335;885;335	ENSP00000416826:E335D;ENSP00000416168:E885D;ENSP00000301807:E335D	ENSP00000301807:E335D	E	-	3	2	TRANK1	36873430	0.897000	0.30589	0.742000	0.31022	0.118000	0.20060	-0.047000	0.11963	0.353000	0.24079	-0.311000	0.09066	GAG	TRANK1	-	NULL	ENSG00000168016		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		94	0.00	0	C	NM_014831		36898426	36898426	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	64	19.75	16	SNP	0.990	A
TRANK1	9881	genome.wustl.edu	37	3	36899389	36899389	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:36899389C>A	ENST00000429976.2	-	12	1939	c.1692G>T	c.(1690-1692)aaG>aaT	p.K564N	TRANK1_ENST00000301807.6_Missense_Mutation_p.K14N|TRANK1_ENST00000428977.2_Missense_Mutation_p.K14N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	564							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTAACAGCTTCTTCACGCGCT	0.498																																						dbGAP											0													105.0	100.0	102.0					3																	36899389		2015	4190	6205	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1692G>T	3.37:g.36899389C>A	ENSP00000416168:p.Lys564Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.K564N	ENST00000429976.2	37	c.1692	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551431	0.27739	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.56776	1.92;0.44;1.92	5.6	0.499	0.16914	Ankyrin repeat-containing domain (3);	0.627326	0.14562	N	0.312001	T	0.41351	0.1155	L	0.47016	1.485	0.35045	D	0.760067	B	0.11235	0.004	B	0.06405	0.002	T	0.36578	-0.9742	10	0.56958	D	0.05	.	6.6291	0.22847	0.0:0.5592:0.2352:0.2057	.	564	O15050	TRNK1_HUMAN	N	14;564;14	ENSP00000416826:K14N;ENSP00000416168:K564N;ENSP00000301807:K14N	ENSP00000301807:K14N	K	-	3	2	TRANK1	36874393	0.979000	0.34478	0.546000	0.28166	0.494000	0.33585	0.210000	0.17455	-0.113000	0.11958	0.655000	0.94253	AAG	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.498	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		94	0.00	0	C	NM_014831		36899389	36899389	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	0.811	A
TRANK1	9881	genome.wustl.edu	37	3	36900331	36900331	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:36900331T>C	ENST00000429976.2	-	11	1665	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	TRANK1_ENST00000301807.6_5'UTR|TRANK1_ENST00000428977.2_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	473							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTCCTCATGTTTCAGGCACGT	0.562																																						dbGAP											0													89.0	80.0	83.0					3																	36900331		692	1591	2283	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1418A>G	3.37:g.36900331T>C	ENSP00000416168:p.Lys473Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.K473R	ENST00000429976.2	37	c.1418	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	T	3.966	-0.009275	0.07727	.	.	ENSG00000168016	ENST00000429976	T	0.52057	0.68	4.68	3.22	0.36961	.	.	.	.	.	T	0.22704	0.0548	N	0.03071	-0.42	0.20926	N	0.99983	.	.	.	.	.	.	T	0.18053	-1.0349	7	0.27785	T	0.31	.	8.3413	0.32245	0.0:0.207:0.0:0.793	.	.	.	.	R	473	ENSP00000416168:K473R	ENSP00000416168:K473R	K	-	2	0	TRANK1	36875335	0.541000	0.26417	0.040000	0.18447	0.045000	0.14185	1.989000	0.40707	0.718000	0.32166	0.460000	0.39030	AAA	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.562	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		173	0.00	0	T	NM_014831		36900331	36900331	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	93	33.09	46	SNP	0.098	C
TRAPPC11	60684	genome.wustl.edu	37	4	184628025	184628025	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:184628025G>A	ENST00000334690.6	+	28	3323	c.3121G>A	c.(3121-3123)Gac>Aac	p.D1041N	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.D647N|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.D1041N	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1041					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GAATAAGACCGACTTAGTTCA	0.428																																						dbGAP											0													132.0	118.0	123.0					4																	184628025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3121G>A	4.37:g.184628025G>A	ENSP00000335371:p.Asp1041Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.D1041N	ENST00000334690.6	37	c.3121	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	1.476	-0.558541	0.03967	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000512476	.	.	.	5.44	1.11	0.20524	.	0.795817	0.12177	N	0.492483	T	0.12817	0.0311	N	0.01729	-0.75	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.33777	-0.9855	9	0.15499	T	0.54	.	8.2095	0.31476	0.6827:0.0:0.3173:0.0	.	772;647;1041;1041	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	N	1041;1041;647	.	ENSP00000335371:D1041N	D	+	1	0	C4orf41	184865019	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	0.914000	0.28624	-0.047000	0.13423	-0.471000	0.05019	GAC	TRAPPC11	-	pfam_DUF1683_C	ENSG00000168538		0.428	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	126	0.00	0	G	NM_021942		184628025	184628025	+1	no_errors	ENST00000334690	ensembl	human	known	69_37n	missense	97	31.21	44	SNP	0.018	A
TRAPPC2	6399	genome.wustl.edu	37	X	13732585	13732585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:13732585G>A	ENST00000380579.1	-	6	556	c.364C>T	c.(364-366)Cga>Tga	p.R122*	TRAPPC2_ENST00000458511.2_Nonsense_Mutation_p.R156*|TRAPPC2_ENST00000358231.5_Nonsense_Mutation_p.R122*|TRAPPC2_ENST00000453655.2_Nonsense_Mutation_p.R129*|TRAPPC2_ENST00000359680.5_Nonsense_Mutation_p.R122*			P0DI81	TPC2A_HUMAN	trafficking protein particle complex 2	122					ER to Golgi vesicle-mediated transport (GO:0006888)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ion channel binding (GO:0044325)|transcription factor binding (GO:0008134)			kidney(1)	1						GCACTTGATCGAATAGGAGAA	0.338																																						dbGAP											0			GRCh37	CM012189	TRAPPC2	M							43.0	34.0	37.0					X																	13732585		1795	4051	5846	-	-	-	SO:0001587	stop_gained	0			AF157061	CCDS48082.1, CCDS48083.1, CCDS48083.2	Xp22	2011-10-10	2005-01-26		ENSG00000196459	ENSG00000196459		"""Trafficking protein particle complex"""	23068	protein-coding gene	gene with protein product		300202	"""spondyloepiphyseal dysplasia, late"""	SEDL		14597397	Standard	NM_014563		Approved	TRS20, SEDT, MIP-2A, ZNF547L, hYP38334	uc010nej.2	P0DI81	OTTHUMG00000021157	ENST00000380579.1:c.364C>T	X.37:g.13732585G>A	ENSP00000369953:p.Arg122*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG0|O14582|Q9HD16	Nonsense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.R129*	ENST00000380579.1	37	c.385	CCDS48082.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.316795	0.95682	.	.	ENSG00000196459	ENST00000453655;ENST00000359680;ENST00000380579;ENST00000358231;ENST00000458511	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-19.7231	18.8327	0.92148	0.0:0.0:1.0:0.0	.	.	.	.	X	129;122;122;122;156	.	ENSP00000350966:R122X	R	-	1	2	TRAPPC2	13642506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.573000	0.74009	2.394000	0.81467	0.513000	0.50165	CGA	TRAPPC2	-	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	ENSG00000196459		0.338	TRAPPC2-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRAPPC2	HGNC	protein_coding	OTTHUMT00000055805.2	161	0.00	0	G	NM_014563		13732585	13732585	-1	no_errors	ENST00000453655	ensembl	human	known	69_37n	nonsense	62	25.88	22	SNP	1.000	A
TRAPPC8	22878	genome.wustl.edu	37	18	29426690	29426690	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:29426690G>A	ENST00000283351.4	-	26	4161	c.3826C>T	c.(3826-3828)Cct>Tct	p.P1276S	RP11-210K20.2_ENST00000582269.1_RNA|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P1222S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1276					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTTCTGAGGATATGAAAAG	0.363																																						dbGAP											0													191.0	194.0	193.0					18																	29426690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3826C>T	18.37:g.29426690G>A	ENSP00000283351:p.Pro1276Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.P1276S	ENST00000283351.4	37	c.3826	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500405	0.26861	.	.	ENSG00000153339	ENST00000283351	T	0.15372	2.43	5.12	1.7	0.24286	.	0.417474	0.28284	N	0.015915	T	0.07863	0.0197	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19484	-1.0304	10	0.42905	T	0.14	.	7.9129	0.29802	0.1668:0.0:0.7006:0.1326	.	1276	Q9Y2L5	TPPC8_HUMAN	S	1276	ENSP00000283351:P1276S	ENSP00000283351:P1276S	P	-	1	0	TRAPPC8	27680688	1.000000	0.71417	0.945000	0.38365	0.994000	0.84299	2.357000	0.44125	0.502000	0.28037	0.561000	0.74099	CCT	TRAPPC8	-	NULL	ENSG00000153339		0.363	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	276	0.00	0	G	NM_014939		29426690	29426690	-1	no_errors	ENST00000283351	ensembl	human	known	69_37n	missense	222	16.17	43	SNP	0.984	A
TRAPPC8	22878	genome.wustl.edu	37	18	29489639	29489639	+	Missense_Mutation	SNP	C	C	T	rs550493135	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:29489639C>T	ENST00000283351.4	-	6	1191	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E232K|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.E286K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	286					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTTTGACTTCGTTATCTAAT	0.303													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16367	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													71.0	74.0	73.0					18																	29489639		2201	4291	6492	-	-	-	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.856G>A	18.37:g.29489639C>T	ENSP00000283351:p.Glu286Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.E286K	ENST00000283351.4	37	c.856	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717112	0.48622	.	.	ENSG00000153339	ENST00000283351	T	0.08720	3.06	5.19	5.19	0.71726	.	0.546782	0.20000	N	0.101349	T	0.06005	0.0156	L	0.29908	0.895	0.35463	D	0.796705	B;P	0.45474	0.17;0.859	B;B	0.35655	0.061;0.207	T	0.26677	-1.0096	10	0.06757	T	0.87	.	16.8576	0.86009	0.0:1.0:0.0:0.0	.	286;286	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	K	286	ENSP00000283351:E286K	ENSP00000283351:E286K	E	-	1	0	TRAPPC8	27743637	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.138000	0.50570	2.595000	0.87683	0.650000	0.86243	GAA	TRAPPC8	-	NULL	ENSG00000153339		0.303	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	123	0.00	0	C	NM_014939		29489639	29489639	-1	no_errors	ENST00000283351	ensembl	human	known	69_37n	missense	73	15.12	13	SNP	1.000	T
TRAPPC8	22878	genome.wustl.edu	37	18	29496337	29496337	+	Missense_Mutation	SNP	C	C	T	rs201741478		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:29496337C>T	ENST00000283351.4	-	4	850	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R118Q|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.R172Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	172					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGAATTCGATGCTGTTC	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		16540	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													137.0	113.0	121.0					18																	29496337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.515G>A	18.37:g.29496337C>T	ENSP00000283351:p.Arg172Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	NULL	p.R172Q	ENST00000283351.4	37	c.515	CCDS11901.1	18	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.48	3.634173	0.67130	.	.	ENSG00000153339	ENST00000283351	T	0.17054	2.3	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	N	0.11201	0.11	0.80722	D	1	B;P	0.40660	0.006;0.726	B;B	0.30251	0.006;0.113	T	0.31081	-0.9956	10	0.10377	T	0.69	.	19.4198	0.94716	0.0:1.0:0.0:0.0	.	172;172	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	Q	172	ENSP00000283351:R172Q	ENSP00000283351:R172Q	R	-	2	0	TRAPPC8	27750335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.633000	0.61318	2.665000	0.90641	0.585000	0.79938	CGA	TRAPPC8	-	NULL	ENSG00000153339		0.363	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1	377	0.26	1	C	NM_014939		29496337	29496337	-1	no_errors	ENST00000283351	ensembl	human	known	69_37n	missense	256	10.49	30	SNP	1.000	T
TRAT1	50852	genome.wustl.edu	37	3	108568059	108568059	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:108568059G>T	ENST00000295756.6	+	5	491	c.261G>T	c.(259-261)gaG>gaT	p.E87D	TRAT1_ENST00000426646.1_Missense_Mutation_p.E50D	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	87					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.E87D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCCGACCAGAGAAATCTGTAA	0.348																																						dbGAP											1	Substitution - Missense(1)	lung(1)											82.0	82.0	82.0					3																	108568059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.261G>T	3.37:g.108568059G>T	ENSP00000295756:p.Glu87Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZX5	Missense_Mutation	SNP	NULL	p.E87D	ENST00000295756.6	37	c.261	CCDS33813.1	3	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989719	0.54041	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.46063	0.88;0.88	5.3	0.373	0.16178	.	0.963342	0.08556	N	0.928268	T	0.27866	0.0686	L	0.33485	1.01	0.19575	N	0.999968	B;B	0.16802	0.019;0.019	B;B	0.16289	0.015;0.015	T	0.24693	-1.0153	10	0.30078	T	0.28	-27.1728	4.3684	0.11235	0.3521:0.1603:0.4876:0.0	.	50;87	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	D	87;50	ENSP00000295756:E87D;ENSP00000410097:E50D	ENSP00000295756:E87D	E	+	3	2	TRAT1	110050749	0.882000	0.30256	0.762000	0.31397	0.858000	0.48976	0.846000	0.27682	0.063000	0.16370	0.557000	0.71058	GAG	TRAT1	-	NULL	ENSG00000163519		0.348	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	HGNC	protein_coding	OTTHUMT00000353794.1	191	0.00	0	G	NM_016388		108568059	108568059	+1	no_errors	ENST00000295756	ensembl	human	known	69_37n	missense	139	12.03	19	SNP	0.645	T
TRAV12-1	28674	genome.wustl.edu	37	14	22309848	22309848	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22309848G>T	ENST00000390433.1	+	0	232									T cell receptor alpha variable 12-1																		CAGTGGTAATGAAGATGGAAG	0.463																																						dbGAP											0													106.0	102.0	103.0					14																	22309848		1940	4151	6091	-	-	-			0			AE000659		14q11.2	2012-02-07			ENSG00000211785	ENSG00000211785		"""T cell receptors / TRA locus"""	12105	other	T cell receptor gene						8188290	Standard	NG_001332		Approved		uc001wbx.2		OTTHUMG00000168990		14.37:g.22309848G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E77*	ENST00000390433.1	37	c.229		14																																																																																			TRAV12-1	-	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211785		0.463	TRAV12-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV12-1	HGNC	TR_V_gene	OTTHUMT00000401888.1	162	0.00	0	G	NG_001332		22309848	22309848	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390433	ensembl	human	known	69_37n	nonsense	113	13.74	18	SNP	0.000	T
TRAV12-3	28672	genome.wustl.edu	37	14	22434102	22434102	+	RNA	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22434102T>G	ENST00000390442.3	+	0	211									T cell receptor alpha variable 12-3																		AACAGTGCTTTTCAATACTTC	0.468																																						dbGAP											0													125.0	124.0	125.0					14																	22434102		1906	4113	6019	-	-	-			0			X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22434102T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.F52C	ENST00000390442.3	37	c.155		14																																																																																			TRAV12-3	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211794		0.468	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV12-3	HGNC	TR_V_gene	OTTHUMT00000409888.1	465	0.00	0	T	NG_001332		22434102	22434102	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390442	ensembl	human	known	69_37n	missense	266	16.61	53	SNP	0.000	G
TRAV39	28642	genome.wustl.edu	37	14	22772190	22772190	+	RNA	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22772190T>G	ENST00000390466.1	+	0	83									T cell receptor alpha variable 39																		AACCCTCTGTTCCTGAGCATG	0.448																																						dbGAP											0													53.0	54.0	54.0					14																	22772190		1851	4119	5970	-	-	-			0			AE000661		14q11.2	2012-02-07			ENSG00000211818	ENSG00000211818		"""T cell receptors / TRA locus"""	12139	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV27S1, TCRAV39S1			OTTHUMG00000170839		14.37:g.22772190T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfscan_Ig-like	p.F28C	ENST00000390466.1	37	c.83		14																																																																																			TRAV39	-	pfam_Ig_V-set	ENSG00000211818		0.448	TRAV39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV39	HGNC	TR_V_gene	OTTHUMT00000410665.1	235	0.00	0	T	NG_001332		22772190	22772190	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390466	ensembl	human	known	69_37n	missense	169	19.81	42	SNP	0.000	G
TRAV6	6956	genome.wustl.edu	37	14	22237206	22237206	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22237206G>T	ENST00000390428.3	+	0	290									T cell receptor alpha variable 6																		AAATGAGAAAGAAAAAAGGAA	0.438																																						dbGAP											0													91.0	91.0	91.0					14																	22237206		1916	4134	6050	-	-	-			0			Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22237206G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E95*	ENST00000390428.3	37	c.283		14																																																																																			TRAV6	-	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211780		0.438	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV6	HGNC	TR_V_gene	OTTHUMT00000401882.1	105	0.00	0	G	NG_001332		22237206	22237206	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390428	ensembl	human	known	69_37n	nonsense	67	19.05	16	SNP	0.000	T
TRAV7	28686	genome.wustl.edu	37	14	22251447	22251447	+	RNA	SNP	G	G	A	rs562774351	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22251447G>A	ENST00000390429.3	+	0	64				AE000659.1_ENST00000410844.1_RNA					T cell receptor alpha variable 7																		GGCAAATGGAGAAAACCAGGT	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		20830	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													34.0	35.0	35.0					14																	22251447		1917	4120	6037	-	-	-			0			AE000659		14q11.2	2012-02-07			ENSG00000211781	ENSG00000211781		"""T cell receptors / TRA locus"""	12145	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168985		14.37:g.22251447G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E22K	ENST00000390429.3	37	c.64		14																																																																																			TRAV7	-	NULL	ENSG00000211781		0.413	TRAV7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV7	HGNC	TR_V_gene	OTTHUMT00000401883.1	124	0.00	0	G	NG_001332		22251447	22251447	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390429	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	0.001	A
TRAV40	28641	genome.wustl.edu	37	14	22782954	22782954	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:22782954C>A	ENST00000390467.3	+	0	33									T cell receptor alpha variable 40																		TAATTCTGATCTTAATGTTTG	0.333																																						dbGAP											0													36.0	37.0	37.0					14																	22782954		1799	4072	5871	-	-	-			0			X73521		14q11.2	2012-02-07			ENSG00000211819	ENSG00000211819		"""T cell receptors / TRA locus"""	12141	other	T cell receptor gene						8412327	Standard	NG_001332		Approved	TCRAV31S1, TCRAV40S1			OTTHUMG00000170840		14.37:g.22782954C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.I11	ENST00000390467.3	37	c.33		14																																																																																			TRAV40	-	NULL	ENSG00000211819		0.333	TRAV40-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV40	HGNC	TR_V_gene	OTTHUMT00000410666.1	145	0.00	0	C	NG_001332		22782954	22782954	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390467	ensembl	human	known	69_37n	silent	79	33.61	40	SNP	0.125	A
TRBJ2-6	28623	genome.wustl.edu	37	7	142494052	142494052	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:142494052C>A	ENST00000390418.1	+	0	0				TRBJ2-7_ENST00000390419.1_RNA|TRBJ2-3_ENST00000390415.1_RNA|TRBJ2-1_ENST00000390412.1_RNA|TRBJ2-5_ENST00000390417.1_RNA|TRBJ2-4_ENST00000390416.1_RNA|TRBJ2-2P_ENST00000390414.1_RNA|TRBJ2-2_ENST00000390413.1_RNA					T cell receptor beta joining 2-6																		CCAGAAACTCCTACAATGAGC	0.617																																						dbGAP											0													6.0	7.0	6.0					7																	142494052		1722	3878	5600	-	-	-			0			X02987		7q34	2012-02-07			ENSG00000211770	ENSG00000211770		"""T cell receptors / TRB locus"""	12174	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBJ26, TCRBJ2S6			OTTHUMG00000158913		7.37:g.142494052C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L2I	ENST00000390418.1	37	c.4		7																																																																																			TRBJ2-1	-	NULL	ENSG00000211764		0.617	TRBJ2-6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TRBJ2-1	HGNC	TR_J_gene	OTTHUMT00000352528.1	20	0.00	0	C	NG_001333		142494052	142494052	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390412	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.031	A
TREH	11181	genome.wustl.edu	37	11	118534083	118534083	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118534083T>C	ENST00000529101.1	-	2	200	c.155A>G	c.(154-156)aAg>aGg	p.K52R	TREH_ENST00000264029.4_Missense_Mutation_p.K52R|TREH_ENST00000530256.1_Intron|TREH_ENST00000397925.1_Missense_Mutation_p.K52R|TREH_ENST00000525958.1_Missense_Mutation_p.K52R			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	52					carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	alpha,alpha-trehalase activity (GO:0004555)			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		CACAAACTGCTTGTCATCCTG	0.537																																						dbGAP											0													122.0	121.0	121.0					11																	118534083		2133	4238	6371	-	-	-	SO:0001583	missense	0			AB000824	CCDS73401.1, CCDS73402.1	11q23.3	2008-07-21				ENSG00000118094	3.2.1.28		12266	protein-coding gene	gene with protein product	"""alpha,alpha-trehalase"", ""alpha,alpha-trehalose glucohydrolase"""	275360				9427547	Standard	NM_007180		Approved	TRE, TREA, MGC129621	uc001pty.1	O43280		ENST00000529101.1:c.155A>G	11.37:g.118534083T>C	ENSP00000435095:p.Lys52Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MB9|Q53FY8	Missense_Mutation	SNP	pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37	p.K52R	ENST00000529101.1	37	c.155		11	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850132	0.91277	.	.	ENSG00000118094	ENST00000529101;ENST00000264029;ENST00000525958;ENST00000397925	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56589	-0.7954	9	0.87932	D	0	-36.0618	12.826	0.57721	0.0:0.0:0.0:1.0	.	52;52	E9PNA2;O43280	.;TREA_HUMAN	R	52	ENSP00000435095:K52R;ENSP00000264029:K52R;ENSP00000432853:K52R;ENSP00000381020:K52R	ENSP00000264029:K52R	K	-	2	0	TREH	118039293	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	6.625000	0.74248	2.032000	0.59987	0.477000	0.44152	AAG	TREH	-	pfam_Glyco_hydro_37	ENSG00000118094		0.537	TREH-001	KNOWN	basic|appris_candidate	protein_coding	TREH	HGNC	protein_coding	OTTHUMT00000389639.1	243	0.00	0	T	NM_007180		118534083	118534083	-1	no_errors	ENST00000264029	ensembl	human	known	69_37n	missense	170	10.05	19	SNP	1.000	C
TREM2	54209	genome.wustl.edu	37	6	41129194	41129194	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:41129194C>T	ENST00000373113.3	-	2	291	c.198G>A	c.(196-198)acG>acA	p.T66T	TREM2_ENST00000338469.3_Silent_p.T66T|TREM2_ENST00000373122.4_Silent_p.T66T	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	66	Ig-like V-type.				axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACAAGTTGTGCGTGCTGACCA	0.612																																						dbGAP											0													101.0	88.0	92.0					6																	41129194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.198G>A	6.37:g.41129194C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5H8|Q8WYN6	Silent	SNP	pfam_Ig_V-set	p.T66	ENST00000373113.3	37	c.198	CCDS4852.1	6																																																																																			TREM2	-	pfam_Ig_V-set	ENSG00000095970		0.612	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM2	HGNC	protein_coding	OTTHUMT00000040499.1	201	0.00	0	C	NM_018965		41129194	41129194	-1	no_errors	ENST00000373113	ensembl	human	known	69_37n	silent	112	17.52	24	SNP	0.201	T
TREML2	79865	genome.wustl.edu	37	6	41160570	41160570	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:41160570G>A	ENST00000483722.1	-	4	1040	c.855C>T	c.(853-855)gtC>gtT	p.V285V		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	285			V -> I (in dbSNP:rs35521209).		T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAACCCATAGACCATGATCA	0.557																																						dbGAP											0													141.0	118.0	126.0					6																	41160570		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.855C>T	6.37:g.41160570G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.V285	ENST00000483722.1	37	c.855	CCDS4853.2	6																																																																																			TREML2	-	NULL	ENSG00000112195		0.557	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	355	0.00	0	G	NM_024807		41160570	41160570	-1	no_errors	ENST00000483722	ensembl	human	known	69_37n	silent	173	30.24	75	SNP	0.985	A
TREML3P	340206	genome.wustl.edu	37	6	41184905	41184905	+	RNA	SNP	C	C	T	rs61735685		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:41184905C>T	ENST00000564680.1	-	0	305									triggering receptor expressed on myeloid cells-like 3, pseudogene																		ACGTAGGAGACGTGGTTGGGG	0.577																																						dbGAP											0																																										-	-	-			0			AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41184905C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000564680.1	37	NULL		6																																																																																			TREML3P	-	-	ENSG00000184106		0.577	TREML3P-002	KNOWN	basic	processed_transcript	TREML3P	HGNC	pseudogene	OTTHUMT00000436224.1	48	0.00	0	C			41184905	41184905	-1	no_errors	ENST00000564680	ensembl	human	known	69_37n	rna	52	11.86	7	SNP	0.000	T
TRIB2	28951	genome.wustl.edu	37	2	12880745	12880745	+	Missense_Mutation	SNP	G	G	A	rs577789476		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:12880745G>A	ENST00000155926.4	+	3	2276	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	TRIB2_ENST00000381465.2_Missense_Mutation_p.R150Q	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTCATCCGAAGCATTCTG	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19385	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													61.0	53.0	55.0					2																	12880745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.857G>A	2.37:g.12880745G>A	ENSP00000155926:p.Arg286Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R286Q	ENST00000155926.4	37	c.857	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549677	0.65311	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.65364	-0.15;-0.15	5.94	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.62209	1.925	0.80722	D	1	P	0.34826	0.471	B	0.33121	0.158	T	0.63576	-0.6606	10	0.54805	T	0.06	-2.9101	15.5721	0.76349	0.0:0.0:0.8611:0.1389	.	286	Q92519	TRIB2_HUMAN	Q	286;150	ENSP00000155926:R286Q;ENSP00000370874:R150Q	ENSP00000155926:R286Q	R	+	2	0	TRIB2	12798196	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.869000	0.99810	1.502000	0.48669	0.650000	0.86243	CGA	TRIB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000071575		0.532	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	136	0.00	0	G	NM_021643		12880745	12880745	+1	no_errors	ENST00000155926	ensembl	human	known	69_37n	missense	90	30.00	39	SNP	1.000	A
TRIM13	10206	genome.wustl.edu	37	13	50586098	50586098	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:50586098C>T	ENST00000378182.3	+	2	760	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	TRIM13_ENST00000356017.4_Missense_Mutation_p.L11F|TRIM13_ENST00000298772.5_Missense_Mutation_p.L11F|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.L8F|TRIM13_ENST00000457662.2_Missense_Mutation_p.L8F	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	8					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGAAGAAGATCTCACATGCCC	0.378																																						dbGAP											0													139.0	123.0	129.0					13																	50586098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.22C>T	13.37:g.50586098C>T	ENSP00000367424:p.Leu8Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L11F	ENST00000378182.3	37	c.31	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253471	0.80135	.	.	ENSG00000204977	ENST00000442421;ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	D;T;T;T;T;T;T	0.95724	-3.79;2.28;2.28;2.28;2.28;2.28;2.28	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	L	0.45744	1.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97003	0.9730	10	0.62326	D	0.03	-5.7086	20.3081	0.98638	0.0:1.0:0.0:0.0	.	8;11	O60858;O60858-3	TRI13_HUMAN;.	F	8;8;8;8;11;8;11	ENSP00000404586:L8F;ENSP00000367425:L8F;ENSP00000412943:L8F;ENSP00000367424:L8F;ENSP00000348299:L11F;ENSP00000399206:L8F;ENSP00000298772:L11F	ENSP00000298772:L11F	L	+	1	0	TRIM13	49484099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.039000	0.70972	2.795000	0.96236	0.655000	0.94253	CTC	TRIM13	-	NULL	ENSG00000204977		0.378	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	87	0.00	0	C	NM_001007278		50586098	50586098	+1	no_errors	ENST00000298772	ensembl	human	known	69_37n	missense	61	22.50	18	SNP	1.000	T
TRIM13	10206	genome.wustl.edu	37	13	50586521	50586521	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:50586521T>C	ENST00000378182.3	+	2	1183	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000356017.4_Missense_Mutation_p.F152L|TRIM13_ENST00000298772.5_Missense_Mutation_p.F152L|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.F149L|TRIM13_ENST00000457662.2_Missense_Mutation_p.F149L	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	149					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTCCAGAGCTTTGAGACCTG	0.468																																						dbGAP											0													75.0	74.0	74.0					13																	50586521		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.445T>C	13.37:g.50586521T>C	ENSP00000367424:p.Phe149Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.F152L	ENST00000378182.3	37	c.454	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	T	3.397	-0.123068	0.06795	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.19105	2.58;2.17;2.17;2.71;2.17;2.71	5.46	5.46	0.80206	.	0.115350	0.56097	D	0.000024	T	0.13243	0.0321	N	0.24115	0.695	0.37107	D	0.900168	P;P	0.39022	0.524;0.655	B;B	0.35039	0.095;0.194	T	0.21999	-1.0229	9	.	.	.	-6.7992	11.5151	0.50515	0.0:0.0:0.1498:0.8502	.	149;152	O60858;O60858-3	TRI13_HUMAN;.	L	149;149;149;152;149;152	ENSP00000367425:F149L;ENSP00000412943:F149L;ENSP00000367424:F149L;ENSP00000348299:F152L;ENSP00000399206:F149L;ENSP00000298772:F152L	.	F	+	1	0	TRIM13	49484522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.947000	0.56652	2.064000	0.61679	0.533000	0.62120	TTT	TRIM13	-	NULL	ENSG00000204977		0.468	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	83	0.00	0	T	NM_001007278		50586521	50586521	+1	no_errors	ENST00000298772	ensembl	human	known	69_37n	missense	81	14.74	14	SNP	1.000	C
TRIM13	10206	genome.wustl.edu	37	13	50586630	50586630	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:50586630T>G	ENST00000378182.3	+	2	1292	c.554T>G	c.(553-555)tTt>tGt	p.F185C	KCNRG_ENST00000312942.1_5'Flank|TRIM13_ENST00000356017.4_Missense_Mutation_p.F188C|TRIM13_ENST00000298772.5_Missense_Mutation_p.F188C|TRIM13_ENST00000478111.1_Intron|KCNRG_ENST00000360473.4_5'Flank|TRIM13_ENST00000420995.2_Missense_Mutation_p.F185C|TRIM13_ENST00000457662.2_Missense_Mutation_p.F185C	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	185					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTGAAGGAATTTTTTGAGAAG	0.403																																						dbGAP											0													43.0	44.0	43.0					13																	50586630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.554T>G	13.37:g.50586630T>G	ENSP00000367424:p.Phe185Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.F188C	ENST00000378182.3	37	c.563	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	T	11.31	1.601821	0.28534	.	.	ENSG00000204977	ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	T;T;T;T;T;T	0.26957	2.18;1.7;1.7;2.24;1.7;2.24	5.46	5.46	0.80206	.	0.056442	0.64402	D	0.000001	T	0.32010	0.0815	N	0.24115	0.695	0.40309	D	0.978691	D;D	0.76494	0.999;0.999	P;D	0.65443	0.862;0.935	T	0.08452	-1.0721	9	.	.	.	-6.8735	10.7219	0.46044	0.1422:0.0:0.0:0.8578	.	185;188	O60858;O60858-3	TRI13_HUMAN;.	C	185;185;185;188;185;188	ENSP00000367425:F185C;ENSP00000412943:F185C;ENSP00000367424:F185C;ENSP00000348299:F188C;ENSP00000399206:F185C;ENSP00000298772:F188C	.	F	+	2	0	TRIM13	49484631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.093000	0.71422	2.064000	0.61679	0.533000	0.62120	TTT	TRIM13	-	NULL	ENSG00000204977		0.403	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	88	0.00	0	T	NM_001007278		50586630	50586630	+1	no_errors	ENST00000298772	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	G
TRIM22	10346	genome.wustl.edu	37	11	5730436	5730436	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:5730436C>T	ENST00000379965.3	+	8	1332	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	352	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATTTCTCTTCGGGGAAATAT	0.418																																					GBM(104;491 2336 5222)	dbGAP											0													130.0	122.0	124.0					11																	5730436		1833	4090	5923	-	-	-	SO:0001583	missense	0			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1055C>T	11.37:g.5730436C>T	ENSP00000369299:p.Ser352Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05CQ0|Q15521	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.S352L	ENST00000379965.3	37	c.1055	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789498	0.70337	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.68479	-0.33	3.72	2.68	0.31781	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.86564	0.5963	H	0.97265	3.97	0.26171	N	0.979863	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;0.988;1.0	T	0.75938	-0.3141	9	0.87932	D	0	.	9.8931	0.41302	0.2044:0.7955:0.0:0.0	.	274;348;352	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	L	352;163;274	ENSP00000369299:S352L	ENSP00000369299:S352L	S	+	2	0	TRIM22	5687012	0.000000	0.05858	0.623000	0.29173	0.850000	0.48378	0.404000	0.20999	2.025000	0.59659	0.460000	0.39030	TCG	TRIM22	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000132274		0.418	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2	712	0.00	0	C	NM_006074		5730436	5730436	+1	no_errors	ENST00000379965	ensembl	human	known	69_37n	missense	576	13.25	88	SNP	0.944	T
TRIM25	7706	genome.wustl.edu	37	17	54973303	54973303	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:54973303C>A	ENST00000316881.4	-	6	1213	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	TRIM25_ENST00000537230.1_Missense_Mutation_p.K388N	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	388	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TCTTGGATTTCTTTTCCTCTT	0.368																																						dbGAP											0													71.0	67.0	68.0					17																	54973303		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1164G>T	17.37:g.54973303C>A	ENSP00000323889:p.Lys388Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.K388N	ENST00000316881.4	37	c.1164	CCDS11591.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842208	0.32513	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.68624	-0.34;-0.34	4.51	4.51	0.55191	.	1.206870	0.06099	N	0.665121	T	0.64382	0.2593	L	0.50333	1.59	0.43798	D	0.996346	B	0.33073	0.396	B	0.34722	0.188	T	0.47509	-0.9112	10	0.14656	T	0.56	.	14.4371	0.67290	0.0:1.0:0.0:0.0	.	388	Q14258	TRI25_HUMAN	N	388	ENSP00000323889:K388N;ENSP00000445961:K388N	ENSP00000323889:K388N	K	-	3	2	TRIM25	52328302	1.000000	0.71417	0.972000	0.41901	0.752000	0.42762	3.510000	0.53393	2.499000	0.84300	0.655000	0.94253	AAG	TRIM25	-	NULL	ENSG00000121060		0.368	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	527	0.00	0	C	NM_005082		54973303	54973303	-1	no_errors	ENST00000316881	ensembl	human	known	69_37n	missense	392	12.69	57	SNP	0.999	A
TRIM3	10612	genome.wustl.edu	37	11	6479439	6479439	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:6479439G>T	ENST00000525074.1	-	3	613	c.219C>A	c.(217-219)gtC>gtA	p.V73V	TRIM3_ENST00000345851.3_Silent_p.V73V|TRIM3_ENST00000536344.1_5'UTR|TRIM3_ENST00000529058.1_5'Flank|TRIM3_ENST00000537602.1_Silent_p.V73V|TRIM3_ENST00000359518.3_Silent_p.V73V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	73					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTGCCGAGACGCCCTGCT	0.607																																					Melanoma(6;5 510 1540 25169 29084)	dbGAP											0													71.0	72.0	72.0					11																	6479439		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.219C>A	11.37:g.6479439G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.V73	ENST00000525074.1	37	c.219	CCDS7764.1	11																																																																																			TRIM3	-	NULL	ENSG00000110171		0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	33	0.00	0	G	NM_006458		6479439	6479439	-1	no_errors	ENST00000345851	ensembl	human	known	69_37n	silent	25	13.79	4	SNP	0.994	T
TRIM36	55521	genome.wustl.edu	37	5	114499229	114499229	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:114499229C>T	ENST00000282369.3	-	2	405	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.R83Q|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	95					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R95Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTGTTAATTCGGTCAATTTT	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											98.0	92.0	94.0					5																	114499229		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.284G>A	5.37:g.114499229C>T	ENSP00000282369:p.Arg95Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R95Q	ENST00000282369.3	37	c.284	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615196	0.66672	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	D;D;T	0.87729	-2.29;-2.29;0.85	5.31	4.44	0.53790	Zinc finger, RING-type (1);	0.045845	0.85682	D	0.000000	D	0.88962	0.6580	M	0.74647	2.275	0.80722	D	1	P;P	0.48407	0.563;0.91	B;P	0.49085	0.127;0.6	D	0.87399	0.2368	10	0.32370	T	0.25	.	13.6112	0.62080	0.0:0.925:0.0:0.075	.	83;95	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	95;83;83	ENSP00000282369:R95Q;ENSP00000423934:R83Q;ENSP00000424743:R83Q	ENSP00000282369:R95Q	R	-	2	0	TRIM36	114527128	1.000000	0.71417	0.866000	0.34008	0.880000	0.50808	4.368000	0.59505	1.222000	0.43521	0.655000	0.94253	CGA	TRIM36	-	smart_Znf_RING	ENSG00000152503		0.433	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	108	0.00	0	C	NM_018700		114499229	114499229	-1	no_errors	ENST00000282369	ensembl	human	known	69_37n	missense	54	34.94	29	SNP	1.000	T
TRIM37	4591	genome.wustl.edu	37	17	57094720	57094720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:57094720G>A	ENST00000262294.7	-	20	2582	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	TRIM37_ENST00000393065.2_Nonsense_Mutation_p.R741*|TRIM37_ENST00000376149.3_Nonsense_Mutation_p.R653*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.R775*	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	775					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTGCTCTTCGAAGTGATAGA	0.448									Mulibrey Nanism																													dbGAP											0													156.0	135.0	142.0					17																	57094720		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2323C>T	17.37:g.57094720G>A	ENSP00000262294:p.Arg775*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z3E6|Q8IYF7|Q8WYF7	Nonsense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.R775*	ENST00000262294.7	37	c.2323	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.873494	0.98986	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	.	.	.	5.93	3.71	0.42584	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3723	16.7084	0.85378	0.0:0.0:0.6827:0.3173	.	.	.	.	X	775;775;653;741	.	ENSP00000262294:R775X	R	-	1	2	TRIM37	54449502	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.081000	0.41596	1.450000	0.47717	0.555000	0.69702	CGA	TRIM37	-	NULL	ENSG00000108395		0.448	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	245	0.00	0	G	NM_015294		57094720	57094720	-1	no_errors	ENST00000262294	ensembl	human	known	69_37n	nonsense	149	17.22	31	SNP	1.000	A
TRIM4	89122	genome.wustl.edu	37	7	99490037	99490037	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99490037C>A	ENST00000355947.2	-	7	1381	c.1252G>T	c.(1252-1254)Gcg>Tcg	p.A418S	TRIM4_ENST00000349062.2_Missense_Mutation_p.A392S	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	418	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAATAAATCGCCCAGATGCCC	0.542																																						dbGAP											0													163.0	166.0	165.0					7																	99490037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1252G>T	7.37:g.99490037C>A	ENSP00000348216:p.Ala418Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A418S	ENST00000355947.2	37	c.1252	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	C	9.369	1.070086	0.20147	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.72051	-0.62;-0.62	2.64	1.75	0.24633	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.58075	0.2097	L	0.48260	1.515	0.80722	D	1	P;P	0.36753	0.512;0.568	B;B	0.33846	0.107;0.171	T	0.55159	-0.8184	9	0.46703	T	0.11	.	7.6022	0.28083	0.0:0.8627:0.0:0.1373	.	392;418	Q9C037-2;Q9C037	.;TRIM4_HUMAN	S	418;392;248	ENSP00000348216:A418S;ENSP00000275736:A392S	ENSP00000275736:A392S	A	-	1	0	TRIM4	99327973	0.486000	0.25980	0.630000	0.29268	0.107000	0.19398	0.649000	0.24843	0.681000	0.31386	0.655000	0.94253	GCG	TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000146833		0.542	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	318	0.00	0	C	NM_033017		99490037	99490037	-1	no_errors	ENST00000355947	ensembl	human	known	69_37n	missense	220	14.73	38	SNP	0.765	A
TRIM42	287015	genome.wustl.edu	37	3	140401334	140401334	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:140401334C>T	ENST00000286349.3	+	2	563	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	124						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGGGAGCAGCGATACCCAGG	0.557																																						dbGAP											0													83.0	83.0	83.0					3																	140401334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.372C>T	3.37:g.140401334C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S124	ENST00000286349.3	37	c.372	CCDS3113.1	3																																																																																			TRIM42	-	NULL	ENSG00000155890		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	154	0.00	0	C	NM_152616		140401334	140401334	+1	no_errors	ENST00000286349	ensembl	human	known	69_37n	silent	89	14.29	15	SNP	0.977	T
TRIM49B	283116	genome.wustl.edu	37	11	49053375	49053375	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:49053375C>T	ENST00000332682.7	+	2	252	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	75						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						AAGATGGCTTCTCTTGCTAGA	0.453																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.224C>T	11.37:g.49053375C>T	ENSP00000330216:p.Ser75Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S75F	ENST00000332682.7	37	c.224	CCDS55762.1	11	.	.	.	.	.	.	.	.	.	.	C	1.831	-0.469955	0.04445	.	.	ENSG00000182053	ENST00000332682	D	0.84442	-1.85	0.49	0.49	0.16861	.	.	.	.	.	T	0.67078	0.2855	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.58216	-0.7675	7	0.40728	T	0.16	.	3.5003	0.07670	0.4448:0.555:1.0E-4:1.0E-4	.	.	.	.	F	75	ENSP00000330216:S75F	ENSP00000330216:S75F	S	+	2	0	AC084851.1	49009951	0.000000	0.05858	0.014000	0.15608	0.020000	0.10135	-0.701000	0.05075	0.513000	0.28278	0.184000	0.17185	TCT	TRIM49B	-	NULL	ENSG00000182053		0.453	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		90	0.00	0	C			49053375	49053375	+1	no_errors	ENST00000332682	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	0.024	T
TRIM49B	283116	genome.wustl.edu	37	11	49055873	49055873	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:49055873G>T	ENST00000332682.7	+	4	711	c.683G>T	c.(682-684)gGa>gTa	p.G228V		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	228						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						ATTTTAAGAGGAATGTATGAG	0.378																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.683G>T	11.37:g.49055873G>T	ENSP00000330216:p.Gly228Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.G228V	ENST00000332682.7	37	c.683	CCDS55762.1	11	.	.	.	.	.	.	.	.	.	.	G	7.033	0.561004	0.13498	.	.	ENSG00000182053	ENST00000332682	T	0.04758	3.56	0.689	-1.38	0.09027	.	.	.	.	.	T	0.07098	0.0180	M	0.68593	2.085	0.09310	N	1	.	.	.	.	.	.	T	0.30327	-0.9982	6	0.34782	T	0.22	.	.	.	.	.	.	.	.	V	228	ENSP00000330216:G228V	ENSP00000330216:G228V	G	+	2	0	AC084851.1	49012449	0.001000	0.12720	0.001000	0.08648	0.033000	0.12548	-0.164000	0.09983	-1.109000	0.02996	0.184000	0.17185	GGA	TRIM49B	-	NULL	ENSG00000182053		0.378	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		849	0.12	1	G			49055873	49055873	+1	no_errors	ENST00000332682	ensembl	human	known	69_37n	missense	617	14.54	105	SNP	0.001	T
TRIM50	135892	genome.wustl.edu	37	7	72732851	72732851	+	Silent	SNP	G	G	A	rs568335787		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:72732851G>A	ENST00000333149.2	-	4	896	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TRIM50_ENST00000453152.1_Silent_p.F232F	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	232						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.F232F(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CCTCATTGCCGAACTGTTCCA	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17354	0.001		0.0	False		,,,				2504	0.0					dbGAP											4	Substitution - coding silent(4)	large_intestine(2)|skin(2)											140.0	128.0	132.0					7																	72732851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.696C>T	7.37:g.72732851G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XT3	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F232	ENST00000333149.2	37	c.696	CCDS34654.1	7																																																																																			TRIM50	-	NULL	ENSG00000146755		0.657	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	248	0.00	0	G	NM_178125		72732851	72732851	-1	no_errors	ENST00000333149	ensembl	human	known	69_37n	silent	153	24.26	49	SNP	0.000	A
TRIM64C	646754	genome.wustl.edu	37	11	49078853	49078853	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:49078853T>C	ENST00000530230.1	-	4	575	c.576A>G	c.(574-576)caA>caG	p.Q192Q		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	191						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						GCAGATGCCGTTGCTCCTCCT	0.408																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.576A>G	11.37:g.49078853T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q192	ENST00000530230.1	37	c.576		11																																																																																			TRIM64C	-	NULL	ENSG00000214891		0.408	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	HGNC	protein_coding	OTTHUMT00000391366.1	129	0.00	0	T			49078853	49078853	-1	no_errors	ENST00000530230	ensembl	human	known	69_37n	silent	84	24.78	28	SNP	0.000	C
TRIM64C	646754	genome.wustl.edu	37	11	49080645	49080645	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:49080645C>T	ENST00000530230.1	-	1	19	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	7						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CTGGAAGACTCGCAGGGTGTC	0.413																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.20G>A	11.37:g.49080645C>T	ENSP00000431987:p.Arg7Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R7Q	ENST00000530230.1	37	c.20		11	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.107744	0.00356	.	.	ENSG00000214891	ENST00000530230	T	0.16897	2.31	1.55	0.0867	0.14447	.	.	.	.	.	T	0.03651	0.0104	N	0.01096	-1.015	0.09310	N	1	.	.	.	.	.	.	T	0.42396	-0.9454	7	0.06365	T	0.9	.	3.447	0.07484	0.0:0.2331:0.0:0.7669	.	.	.	.	Q	7	ENSP00000431987:R7Q	ENSP00000431987:R7Q	R	-	2	0	TRIM64C	49037221	0.001000	0.12720	0.008000	0.14137	0.013000	0.08279	-0.090000	0.11163	0.102000	0.17638	-1.109000	0.02080	CGA	TRIM64C	-	NULL	ENSG00000214891		0.413	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	HGNC	protein_coding	OTTHUMT00000391366.1	74	0.00	0	C			49080645	49080645	-1	no_errors	ENST00000530230	ensembl	human	known	69_37n	missense	59	23.38	18	SNP	0.001	T
TRIM69	140691	genome.wustl.edu	37	15	45059889	45059889	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:45059889G>A	ENST00000559390.1	+	8	2350	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	TRIM69_ENST00000558173.1_Silent_p.E270E|TRIM69_ENST00000329464.4_Silent_p.E474E|TRIM69_ENST00000560442.1_Silent_p.E270E|TRIM69_ENST00000338264.4_Silent_p.E315E|TRIM69_ENST00000561043.1_Silent_p.E237E|TRIM69_ENST00000558329.1_Silent_p.E253E			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	474	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTTTCATGGAGAAACTTTATC	0.393																																					Pancreas(84;519 1450 1802 20427 34706)	dbGAP											0													85.0	83.0	84.0					15																	45059889		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1422G>A	15.37:g.45059889G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.E474	ENST00000559390.1	37	c.1422	CCDS32220.1	15																																																																																			TRIM69	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000185880		0.393	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	218	0.00	0	G			45059889	45059889	+1	no_errors	ENST00000329464	ensembl	human	known	69_37n	silent	146	10.98	18	SNP	1.000	A
TRIM9	114088	genome.wustl.edu	37	14	51446185	51446185	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:51446185C>T	ENST00000298355.3	-	9	3111	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	TRIM9_ENST00000338969.5_Missense_Mutation_p.D745N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	664	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGTTGTTCATCGTTGATAAAA	0.478																																						dbGAP											0													190.0	203.0	199.0					14																	51446185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1990G>A	14.37:g.51446185C>T	ENSP00000298355:p.Asp664Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.D745N	ENST00000298355.3	37	c.2233	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193304	0.78902	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	T;T	0.74002	-0.8;-0.73	5.89	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.147577	0.64402	N	0.000012	T	0.71434	0.3339	M	0.63843	1.955	0.80722	D	1	B;B	0.30455	0.001;0.28	B;B	0.32805	0.005;0.153	T	0.67998	-0.5525	10	0.28530	T	0.3	.	13.2626	0.60113	0.0:0.9232:0.0:0.0768	.	745;664	Q9C026-4;Q9C026	.;TRIM9_HUMAN	N	664;745	ENSP00000298355:D664N;ENSP00000342970:D745N	ENSP00000298355:D664N	D	-	1	0	TRIM9	50515935	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.907000	0.63300	1.466000	0.48025	0.557000	0.71058	GAT	TRIM9	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000100505		0.478	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	238	0.00	0	C	NM_015163		51446185	51446185	-1	no_errors	ENST00000338969	ensembl	human	known	69_37n	missense	152	30.14	66	SNP	1.000	T
TRIO	7204	genome.wustl.edu	37	5	14290896	14290896	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:14290896C>T	ENST00000344204.4	+	5	636	c.612C>T	c.(610-612)ggC>ggT	p.G204G	TRIO_ENST00000537187.1_Silent_p.G204G|TRIO_ENST00000509967.2_Silent_p.G155G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTTTGATGGCTGCCTGGAAT	0.423																																						dbGAP											0													77.0	75.0	75.0					5																	14290896		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.612C>T	5.37:g.14290896C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.G204	ENST00000344204.4	37	c.612	CCDS3883.1	5																																																																																			TRIO	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000038382		0.423	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	171	0.00	0	C	NM_007118		14290896	14290896	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	silent	122	22.78	36	SNP	1.000	T
TRIO	7204	genome.wustl.edu	37	5	14399070	14399070	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:14399070G>A	ENST00000344204.4	+	30	4529	c.4505G>A	c.(4504-4506)cGa>cAa	p.R1502Q	TRIO_ENST00000537187.1_Missense_Mutation_p.R1502Q|TRIO_ENST00000509967.2_Missense_Mutation_p.R1453Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1502	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCTTAATTCGAAAGGGTCGA	0.403																																						dbGAP											0													131.0	137.0	135.0					5																	14399070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4505G>A	5.37:g.14399070G>A	ENSP00000339299:p.Arg1502Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R1502Q	ENST00000344204.4	37	c.4505	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495511	0.85069	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.60171	1.46;1.46;0.21	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;0.976;0.998	D;P;D	0.80764	0.994;0.487;0.944	D	0.84390	0.0554	10	0.72032	D	0.01	.	19.1797	0.93617	0.0:0.0:1.0:0.0	.	1453;1502;1502	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	1502;1502;1453;1189	ENSP00000339299:R1502Q;ENSP00000446348:R1502Q;ENSP00000445592:R1453Q	ENSP00000339299:R1502Q	R	+	2	0	TRIO	14452070	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.813000	0.99286	2.524000	0.85096	0.591000	0.81541	CGA	TRIO	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000038382		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	257	0.00	0	G	NM_007118		14399070	14399070	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	missense	323	12.23	45	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14482735	14482735	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:14482735C>A	ENST00000344204.4	+	46	6534	c.6510C>A	c.(6508-6510)ttC>ttA	p.F2170L	TRIO_ENST00000537187.1_Missense_Mutation_p.F2170L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2170	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGACACATTCTTGGTCACAG	0.463																																						dbGAP											0													89.0	81.0	84.0					5																	14482735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6510C>A	5.37:g.14482735C>A	ENSP00000339299:p.Phe2170Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.F2170L	ENST00000344204.4	37	c.6510	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423345	0.62733	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.14266	2.52;2.52	5.14	2.37	0.29283	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	M	0.66560	2.04	0.47123	D	0.999326	P;B	0.46784	0.884;0.015	P;B	0.54026	0.74;0.004	T	0.01844	-1.1262	10	0.26408	T	0.33	.	10.0099	0.41979	0.0:0.7805:0.0:0.2194	.	2170;2170	O75962-5;O75962	.;TRIO_HUMAN	L	2170;2170;1857	ENSP00000339299:F2170L;ENSP00000446348:F2170L	ENSP00000339299:F2170L	F	+	3	2	TRIO	14535735	0.993000	0.37304	0.809000	0.32408	0.828000	0.46876	2.118000	0.41949	0.656000	0.30886	-0.140000	0.14226	TTC	TRIO	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000038382		0.463	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	200	0.00	0	C	NM_007118		14482735	14482735	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	missense	147	13.53	23	SNP	0.970	A
TRIP11	9321	genome.wustl.edu	37	14	92442497	92442497	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:92442497T>C	ENST00000267622.4	-	17	5670	c.5297A>G	c.(5296-5298)aAg>aGg	p.K1766R		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1766					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CATCAATTTCTTTTGTACATC	0.313			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													102.0	89.0	93.0					14																	92442497		2201	4298	6499	-	-	-	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5297A>G	14.37:g.92442497T>C	ENSP00000267622:p.Lys1766Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.K1766R	ENST00000267622.4	37	c.5297	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	T	11.32	1.602517	0.28534	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.03745	3.82	4.97	3.81	0.43845	.	0.341379	0.34725	N	0.003726	T	0.04543	0.0124	L	0.43152	1.355	0.25590	N	0.986704	B;B	0.12630	0.006;0.005	B;B	0.13407	0.009;0.009	T	0.28964	-1.0027	10	0.46703	T	0.11	.	10.9982	0.47589	0.0:0.0743:0.0:0.9257	.	1502;1766	F5H1Z0;Q15643	.;TRIPB_HUMAN	R	1766;1502	ENSP00000267622:K1766R	ENSP00000267622:K1766R	K	-	2	0	TRIP11	91512250	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	1.107000	0.31110	0.834000	0.34852	0.454000	0.30748	AAG	TRIP11	-	NULL	ENSG00000100815		0.313	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	271	0.00	0	T			92442497	92442497	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	missense	174	18.31	39	SNP	1.000	C
TRIP12	9320	genome.wustl.edu	37	2	230638875	230638875	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:230638875C>T	ENST00000283943.5	-	37	5585	c.5407G>A	c.(5407-5409)Gaa>Aaa	p.E1803K	TRIP12_ENST00000389044.4_Missense_Mutation_p.E1851K|TRIP12_ENST00000389045.3_Missense_Mutation_p.E1533K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1803					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTCTTCAGTTCGATATTGGGA	0.433																																						dbGAP											0													161.0	151.0	154.0					2																	230638875		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5407G>A	2.37:g.230638875C>T	ENSP00000283943:p.Glu1803Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.E1803K	ENST00000283943.5	37	c.5407	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.786173	0.96937	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044;ENST00000418123	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.08	6.08	0.98989	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.81942	2.565	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.74348	0.983;0.983;0.983	T	0.72080	-0.4398	10	0.38643	T	0.18	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1533;1851;1803	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	K	1803;1533;1851;101	ENSP00000283943:E1803K;ENSP00000373697:E1533K;ENSP00000373696:E1851K;ENSP00000408330:E101K	ENSP00000283943:E1803K	E	-	1	0	TRIP12	230347119	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	7.338000	0.79269	2.894000	0.99253	0.591000	0.81541	GAA	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000153827		0.433	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	286	0.00	0	C	NM_004238		230638875	230638875	-1	no_errors	ENST00000283943	ensembl	human	known	69_37n	missense	171	10.88	21	SNP	1.000	T
TRIP12	9320	genome.wustl.edu	37	2	230654349	230654349	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:230654349C>T	ENST00000283943.5	-	30	4626	c.4448G>A	c.(4447-4449)cGa>cAa	p.R1483Q	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1531Q|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1213Q	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1483					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATACCAGTATCGACTGATAGC	0.343																																						dbGAP											0													141.0	132.0	135.0					2																	230654349		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4448G>A	2.37:g.230654349C>T	ENSP00000283943:p.Arg1483Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R1483Q	ENST00000283943.5	37	c.4448	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033235	0.93575	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.49139	0.79;1.15;0.79	5.91	5.01	0.66863	.	0.054502	0.64402	D	0.000001	T	0.56702	0.2003	L	0.33485	1.01	0.80722	D	1	P;D;B	0.71674	0.496;0.998;0.214	B;D;B	0.66602	0.041;0.945;0.041	T	0.54899	-0.8224	10	0.33940	T	0.23	.	16.8329	0.85949	0.0:0.8714:0.1286:0.0	.	1213;1531;1483	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Q	1483;1213;1531	ENSP00000283943:R1483Q;ENSP00000373697:R1213Q;ENSP00000373696:R1531Q	ENSP00000283943:R1483Q	R	-	2	0	TRIP12	230362593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	1.447000	0.47661	0.655000	0.94253	CGA	TRIP12	-	NULL	ENSG00000153827		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	307	0.00	0	C	NM_004238		230654349	230654349	-1	no_errors	ENST00000283943	ensembl	human	known	69_37n	missense	244	11.59	32	SNP	1.000	T
TRIT1	54802	genome.wustl.edu	37	1	40313767	40313767	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:40313767G>T	ENST00000316891.5	-	6	720	c.706C>A	c.(706-708)Cta>Ata	p.L236I	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_5'UTR|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000372818.1_Missense_Mutation_p.L236I|TRIT1_ENST00000441669.2_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	236	Interaction with isopentenylpyrophosphate transferase. {ECO:0000250}.				tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.L236I(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGCTCATCTAGAACTTGAATC	0.413																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											125.0	116.0	119.0					1																	40313767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.706C>A	1.37:g.40313767G>T	ENSP00000321810:p.Leu236Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	pfam_IPPT,pfam_Isopentenyl_transferase,pfam_Znf_C2H2_jaz,smart_Znf_U1,tigrfam_tRNA_delta_PyrP_Trfase	p.L236I	ENST00000316891.5	37	c.706	CCDS30681.1	1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787570	0.70337	.	.	ENSG00000043514	ENST00000046894;ENST00000316891;ENST00000372818;ENST00000534869	T;T	0.70516	-0.49;-0.49	5.97	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.987;1.0	T	0.80710	-0.1261	9	.	.	.	-6.8001	9.0912	0.36612	0.3316:0.0:0.6684:0.0	.	236;236	Q9H3H1;Q9H3H1-4	MOD5_HUMAN;.	I	236;236;236;129	ENSP00000321810:L236I;ENSP00000361905:L236I	.	L	-	1	2	TRIT1	40086354	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	3.133000	0.50531	0.144000	0.18951	0.655000	0.94253	CTA	TRIT1	-	pfam_IPPT,tigrfam_tRNA_delta_PyrP_Trfase	ENSG00000043514		0.413	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TRIT1	HGNC	protein_coding	OTTHUMT00000025627.2	275	0.00	0	G	NM_017646		40313767	40313767	-1	no_errors	ENST00000316891	ensembl	human	known	69_37n	missense	184	20.00	46	SNP	1.000	T
TRMT10A	93587	genome.wustl.edu	37	4	100479277	100479277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:100479277G>A	ENST00000273962.3	-	3	589	c.277C>T	c.(277-279)Cga>Tga	p.R93*	TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.R93*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.R93*	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	93	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R93*(1)									ACATCTCTTCGAACACGTTTT	0.348																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											252.0	204.0	220.0					4																	100479277		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.277C>T	4.37:g.100479277G>A	ENSP00000273962:p.Arg93*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8X7|Q9Y2T9	Nonsense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10	p.R93*	ENST00000273962.3	37	c.277	CCDS3650.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.864254	0.97043	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	.	.	.	5.78	4.93	0.64822	.	0.057498	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-5.4577	10.8063	0.46520	0.0675:0.0:0.8001:0.1324	.	.	.	.	X	93	.	ENSP00000273962:R93X	R	-	1	2	RG9MTD2	100698300	1.000000	0.71417	0.901000	0.35422	0.878000	0.50629	2.784000	0.47774	1.569000	0.49696	0.591000	0.81541	CGA	TRMT10A	-	pirsf_tRNA_MeTfrase_TRM10	ENSG00000145331		0.348	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10A	HGNC	protein_coding	OTTHUMT00000253668.1	443	0.00	0	G	NM_152292		100479277	100479277	-1	no_errors	ENST00000273962	ensembl	human	known	69_37n	nonsense	303	16.07	58	SNP	0.961	A
TRMT10C	54931	genome.wustl.edu	37	3	101284259	101284259	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:101284259G>A	ENST00000309922.6	+	2	788	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	212	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										CATGGCTTACGAAAATTATAT	0.383																																						dbGAP											0													67.0	62.0	63.0					3																	101284259		1839	4084	5923	-	-	-	SO:0001583	missense	0			AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.634G>A	3.37:g.101284259G>A	ENSP00000312356:p.Glu212Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase	p.E212K	ENST00000309922.6	37	c.634	CCDS43122.1	3	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746896	0.69418	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.26518	2.38;1.73	5.96	5.08	0.68730	.	0.456988	0.26383	N	0.024700	T	0.49338	0.1551	M	0.77313	2.365	0.40405	D	0.979681	D	0.65815	0.995	P	0.58331	0.837	T	0.56673	-0.7940	10	0.54805	T	0.06	-11.2832	17.2828	0.87133	0.0:0.1254:0.8746:0.0	.	212	Q7L0Y3	MRRP1_HUMAN	K	212	ENSP00000312356:E212K;ENSP00000419389:E212K	ENSP00000312356:E212K	E	+	1	0	RG9MTD1	102766949	1.000000	0.71417	0.236000	0.24074	0.396000	0.30629	6.420000	0.73349	1.518000	0.48934	0.655000	0.94253	GAA	TRMT10C	-	NULL	ENSG00000174173		0.383	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10C	HGNC	protein_coding	OTTHUMT00000353400.2	66	0.00	0	G	NM_017819		101284259	101284259	+1	no_errors	ENST00000309922	ensembl	human	known	69_37n	missense	43	33.85	22	SNP	1.000	A
TRMT6	51605	genome.wustl.edu	37	20	5923388	5923388	+	Missense_Mutation	SNP	G	G	A	rs544190283	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:5923388G>A	ENST00000203001.2	-	7	842	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	TRMT6_ENST00000453074.2_Missense_Mutation_p.R68W|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	238					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GTTGCTGCCCGAACAGGTCCT	0.428																																						dbGAP											0													127.0	136.0	133.0					20																	5923388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.712C>T	20.37:g.5923388G>A	ENSP00000203001:p.Arg238Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	p.R238W	ENST00000203001.2	37	c.712	CCDS13093.1	20	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442738	0.83993	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.25085	1.84;1.82	6.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50389	-0.8834	10	0.66056	D	0.02	-8.9274	12.7826	0.57485	0.0:0.0:0.6932:0.3068	.	68;238	B4DUV6;Q9UJA5	.;TRM6_HUMAN	W	238;68	ENSP00000203001:R238W;ENSP00000392070:R68W	ENSP00000203001:R238W	R	-	1	2	TRMT6	5871388	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.877000	0.56123	2.941000	0.99782	0.655000	0.94253	CGG	TRMT6	-	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	ENSG00000089195		0.428	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2	121	0.00	0	G			5923388	5923388	-1	no_errors	ENST00000203001	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	1.000	A
TRO	7216	genome.wustl.edu	37	X	54949181	54949181	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54949181G>T	ENST00000173898.7	+	3	328	c.216G>T	c.(214-216)aaG>aaT	p.K72N	TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.K72N|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.K72N|TRO_ENST00000375041.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	72					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCAAGACCAAGAAGGCCCCTA	0.542																																						dbGAP											0													37.0	38.0	38.0					X																	54949181		1920	4126	6046	-	-	-	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.216G>T	X.37:g.54949181G>T	ENSP00000173898:p.Lys72Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K72N	ENST00000173898.7	37	c.216	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013637	0.54468	.	.	ENSG00000067445	ENST00000411534;ENST00000452830;ENST00000430420;ENST00000442098;ENST00000173898;ENST00000319167;ENST00000453081;ENST00000375022;ENST00000440759;ENST00000449980;ENST00000416704;ENST00000427099	T;T;T;T;T;T;T;T;T;T;T;T	0.64438	0.13;0.03;0.13;0.18;2.85;2.81;-0.1;2.81;0.19;0.16;0.19;0.16	3.15	3.15	0.36227	.	.	.	.	.	T	0.63450	0.2512	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.64871	-0.6305	9	0.62326	D	0.03	.	8.8238	0.35043	0.0:0.0:1.0:0.0	.	72;72	Q96SX2;Q12816	.;TROP_HUMAN	N	28;28;28;72;72;72;28;72;72;28;72;28	ENSP00000388947:K28N;ENSP00000387676:K28N;ENSP00000411717:K28N;ENSP00000404645:K72N;ENSP00000173898:K72N;ENSP00000318278:K72N;ENSP00000412588:K28N;ENSP00000364162:K72N;ENSP00000406574:K72N;ENSP00000392841:K28N;ENSP00000404767:K72N;ENSP00000405311:K28N	ENSP00000173898:K72N	K	+	3	2	TRO	54965906	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	1.545000	0.36169	1.812000	0.52913	0.506000	0.49869	AAG	TRO	-	NULL	ENSG00000067445		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	242	0.00	0	G	NM_016157		54949181	54949181	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	missense	176	33.46	89	SNP	0.990	T
TROVE2	6738	genome.wustl.edu	37	1	193046142	193046142	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:193046142T>G	ENST00000367446.3	+	5	1258	c.1048T>G	c.(1048-1050)Ttg>Gtg	p.L350V	TROVE2_ENST00000367443.1_Missense_Mutation_p.L350V|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000416058.2_Missense_Mutation_p.L75V|TROVE2_ENST00000367445.3_Missense_Mutation_p.L350V|TROVE2_ENST00000400968.2_Missense_Mutation_p.L350V|TROVE2_ENST00000367444.3_Missense_Mutation_p.L350V|TROVE2_ENST00000432079.1_Missense_Mutation_p.L75V|TROVE2_ENST00000367441.1_Missense_Mutation_p.L350V	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	350	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGAAGAAATTTTGAAAGCATT	0.328																																						dbGAP											0													71.0	66.0	68.0					1																	193046142		1860	4096	5956	-	-	-	SO:0001583	missense	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1048T>G	1.37:g.193046142T>G	ENSP00000356416:p.Leu350Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	pfam_TROVE,pfscan_TROVE	p.L350V	ENST00000367446.3	37	c.1048	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	T	2.620	-0.288686	0.05605	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.81	0.967	0.19674	TROVE (2);	0.527164	0.19237	N	0.119272	T	0.03739	0.0106	N	0.01789	-0.72	0.31627	N	0.649476	B;B;B;B	0.12013	0.0;0.0;0.001;0.005	B;B;B;B	0.09377	0.002;0.002;0.004;0.003	T	0.40059	-0.9583	10	0.12766	T	0.61	-0.9615	5.6924	0.17837	0.0:0.2772:0.1306:0.5922	.	350;350;350;350	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	V	350;75;350;350;350;350;350	ENSP00000383752:L350V;ENSP00000411421:L75V;ENSP00000356416:L350V;ENSP00000356413:L350V;ENSP00000356415:L350V;ENSP00000356414:L350V;ENSP00000356411:L350V	ENSP00000356411:L350V	L	+	1	2	TROVE2	191312765	0.844000	0.29557	0.937000	0.37676	0.998000	0.95712	0.279000	0.18771	-0.065000	0.13021	0.524000	0.50904	TTG	TROVE2	-	pfam_TROVE,pfscan_TROVE	ENSG00000116747		0.328	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	331	0.00	0	T	NM_004600		193046142	193046142	+1	no_errors	ENST00000367441	ensembl	human	known	69_37n	missense	307	11.53	40	SNP	0.967	G
TRPA1	8989	genome.wustl.edu	37	8	72950292	72950292	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:72950292T>G	ENST00000262209.4	-	20	2518	c.2311A>C	c.(2311-2313)Aaa>Caa	p.K771Q	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	771					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATACAAGTTTTTATTAGATAT	0.254																																						dbGAP											0													21.0	22.0	21.0					8																	72950292		2188	4258	6446	-	-	-	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2311A>C	8.37:g.72950292T>G	ENSP00000262209:p.Lys771Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K771Q	ENST00000262209.4	37	c.2311	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404569	0.42613	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.78707	-1.2;-1.2	5.58	4.41	0.53225	.	0.273258	0.41823	N	0.000804	D	0.83376	0.5241	M	0.76838	2.35	0.30886	N	0.730864	D	0.56035	0.974	P	0.57204	0.815	T	0.81150	-0.1064	10	0.24483	T	0.36	-11.329	11.3438	0.49548	0.0:0.0:0.29:0.71	.	771	O75762	TRPA1_HUMAN	Q	623;771	ENSP00000428151:K623Q;ENSP00000262209:K771Q	ENSP00000262209:K771Q	K	-	1	0	TRPA1	73112846	0.792000	0.28813	0.965000	0.40720	0.902000	0.53008	0.943000	0.29030	0.923000	0.37045	0.533000	0.62120	AAA	TRPA1	-	NULL	ENSG00000104321		0.254	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	98	0.00	0	T	NM_007332		72950292	72950292	-1	no_errors	ENST00000262209	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	0.995	G
TRPC1	7220	genome.wustl.edu	37	3	142521154	142521154	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142521154C>T	ENST00000476941.1	+	10	2211	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Silent_p.F541F	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	575					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TAGGCATCTTCTGTGAACAGC	0.318																																						dbGAP											0													104.0	101.0	102.0					3																	142521154		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1725C>T	3.37:g.142521154C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Silent	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F575	ENST00000476941.1	37	c.1725	CCDS58856.1	3																																																																																			TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel	ENSG00000144935		0.318	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	722	0.00	0	C	NM_003304		142521154	142521154	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	silent	455	15.06	81	SNP	1.000	T
TRPC1	7220	genome.wustl.edu	37	3	142522858	142522858	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142522858C>A	ENST00000476941.1	+	11	2283	c.1797C>A	c.(1795-1797)ttC>ttA	p.F599L	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.F565L	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	599					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.F565L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGTATATTTTCTCCTTAGCGC	0.383																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											111.0	101.0	104.0					3																	142522858		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1797C>A	3.37:g.142522858C>A	ENSP00000419313:p.Phe599Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F599L	ENST00000476941.1	37	c.1797	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349575	0.61183	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98400	-4.91;-4.91	5.33	3.52	0.40303	Ion transport (1);	0.096368	0.64402	D	0.000001	D	0.98369	0.9458	M	0.77616	2.38	0.80722	D	1	B;P;D	0.67145	0.294;0.517;0.996	B;B;D	0.69824	0.165;0.226;0.966	D	0.98336	1.0536	10	0.72032	D	0.01	-13.0343	6.8532	0.24026	0.0:0.6555:0.1338:0.2107	.	565;599;565	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	L	599;565;118	ENSP00000419313:F599L;ENSP00000273482:F565L	ENSP00000273482:F565L	F	+	3	2	TRPC1	144005548	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.651000	0.24873	1.388000	0.46506	0.650000	0.86243	TTC	TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel	ENSG00000144935		0.383	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	512	0.00	0	C	NM_003304		142522858	142522858	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	missense	318	25.18	107	SNP	1.000	A
TRPC1	7220	genome.wustl.edu	37	3	142522879	142522879	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142522879C>A	ENST00000476941.1	+	11	2304	c.1818C>A	c.(1816-1818)atC>atA	p.I606I	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Silent_p.I572I	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	606					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATGTGGCAATCTTTGTCACAA	0.398																																						dbGAP											0													139.0	125.0	130.0					3																	142522879		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1818C>A	3.37:g.142522879C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CE4	Silent	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I606	ENST00000476941.1	37	c.1818	CCDS58856.1	3																																																																																			TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel	ENSG00000144935		0.398	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	593	0.00	0	C	NM_003304		142522879	142522879	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	silent	447	10.78	54	SNP	1.000	A
TRPC4	7223	genome.wustl.edu	37	13	38211624	38211624	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:38211624C>T	ENST00000379705.3	-	11	3207	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	TRPC4_ENST00000358477.2_Missense_Mutation_p.E784K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.E789K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E611K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E719K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E611K|TRPC4_ENST00000355779.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	784	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATTACCTTCGCTATCACTC	0.413																																						dbGAP											0													77.0	75.0	75.0					13																	38211624		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2350G>A	13.37:g.38211624C>T	ENSP00000369027:p.Glu784Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.E789K	ENST00000379705.3	37	c.2365	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179965	0.38511	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000358477;ENST00000379673	T;T;T;T;T;T	0.69685	-0.15;-0.15;0.05;0.05;-0.13;-0.42	5.79	5.79	0.91817	.	1.296980	0.05206	N	0.505863	T	0.61022	0.2314	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B	0.14438	0.001;0.003;0.01;0.001;0.006	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001	T	0.13872	-1.0493	10	0.21540	T	0.41	-27.4773	13.2532	0.60064	0.0:0.9276:0.0:0.0724	.	719;789;611;784;784	Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	K	784;789;611;611;784;719	ENSP00000369027:E784K;ENSP00000369003:E789K;ENSP00000342580:E611K;ENSP00000369001:E611K;ENSP00000351264:E784K;ENSP00000368995:E719K	ENSP00000342580:E611K	E	-	1	0	TRPC4	37109624	0.992000	0.36948	0.963000	0.40424	0.877000	0.50540	3.019000	0.49635	2.727000	0.93392	0.563000	0.77884	GAA	TRPC4	-	prints_TRPC4_channel	ENSG00000133107		0.413	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	92	0.00	0	C	NM_003306		38211624	38211624	-1	no_errors	ENST00000379681	ensembl	human	known	69_37n	missense	55	25.68	19	SNP	0.968	T
TRPC4	7223	genome.wustl.edu	37	13	38357421	38357421	+	Missense_Mutation	SNP	C	C	T	rs75129764	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:38357421C>T	ENST00000379705.3	-	2	907	c.50G>A	c.(49-51)cGc>cAc	p.R17H	TRPC4_ENST00000358477.2_Missense_Mutation_p.R17H|TRPC4_ENST00000426868.2_Missense_Mutation_p.R17H|TRPC4_ENST00000447043.1_Missense_Mutation_p.R17H|TRPC4_ENST00000379681.3_Missense_Mutation_p.R17H|TRPC4_ENST00000338947.5_Missense_Mutation_p.R17H|TRPC4_ENST00000379673.2_Missense_Mutation_p.R17H|TRPC4_ENST00000379679.1_Missense_Mutation_p.R17H|TRPC4_ENST00000355779.2_Missense_Mutation_p.R17H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	17					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAGAGGGATGCGGTCTCTATA	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		15058	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													128.0	119.0	122.0					13																	38357421		2203	4300	6503	-	-	-	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.50G>A	13.37:g.38357421C>T	ENSP00000369027:p.Arg17His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R17H	ENST00000379705.3	37	c.50	CCDS9365.1	13	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.223557	0.95139	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T;T	0.78003	-0.57;-0.57;-0.18;-0.18;-1.14;0.05;-0.41;-0.68;0.05	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.994;0.996;1.0;0.999	D	0.84490	0.0610	10	0.72032	D	0.01	-16.3967	20.8598	0.99761	0.0:1.0:0.0:0.0	.	17;17;17;17;17;17	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	H	17	ENSP00000369027:R17H;ENSP00000369003:R17H;ENSP00000342580:R17H;ENSP00000369001:R17H;ENSP00000410133:R17H;ENSP00000348025:R17H;ENSP00000351264:R17H;ENSP00000368995:R17H;ENSP00000414316:R17H	ENSP00000342580:R17H	R	-	2	0	TRPC4	37255421	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGC	TRPC4	-	tigrfam_TRP_channel	ENSG00000133107		0.398	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	246	0.00	0	C	NM_003306		38357421	38357421	-1	no_errors	ENST00000379681	ensembl	human	known	69_37n	missense	95	31.16	43	SNP	1.000	T
TRPC6	7225	genome.wustl.edu	37	11	101362450	101362450	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:101362450G>A	ENST00000344327.3	-	3	1389	c.965C>T	c.(964-966)tCa>tTa	p.S322L	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.S322L|TRPC6_ENST00000360497.4_Missense_Mutation_p.S322L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	322					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCACTGCATTGACAGTTTTTT	0.388																																					Colon(166;1315 1927 11094 12848 34731)	dbGAP											0													77.0	74.0	75.0					11																	101362450		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.965C>T	11.37:g.101362450G>A	ENSP00000340913:p.Ser322Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S322L	ENST00000344327.3	37	c.965	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.614926	0.96649	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.63580	-0.05;-0.05;-0.05	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.82458	0.5041	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.82396	-0.0478	10	0.62326	D	0.03	-9.7338	20.8597	0.99761	0.0:0.0:1.0:0.0	.	322;322	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	L	322	ENSP00000340913:S322L;ENSP00000435574:S322L;ENSP00000353687:S322L	ENSP00000340913:S322L	S	-	2	0	TRPC6	100867660	1.000000	0.71417	0.969000	0.41365	0.949000	0.60115	9.756000	0.98918	2.937000	0.99478	0.650000	0.86243	TCA	TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.388	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1	102	0.00	0	G	NM_004621		101362450	101362450	-1	no_errors	ENST00000344327	ensembl	human	known	69_37n	missense	65	23.53	20	SNP	1.000	A
TRPC7	57113	genome.wustl.edu	37	5	135567147	135567147	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:135567147G>A	ENST00000513104.1	-	8	2217	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	TRPC7_ENST00000426057.2_Silent_p.I529I|TRPC7_ENST00000355180.3_Silent_p.I584I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	645					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAATGTTCTCGATGAATTTGT	0.398																																						dbGAP											0													128.0	118.0	121.0					5																	135567147		1937	4154	6091	-	-	-	SO:0001819	synonymous_variant	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1935C>T	5.37:g.135567147G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R590*	ENST00000513104.1	37	c.1768	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	9.519	1.107699	0.20714	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.43	1.66	0.24008	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.3361	3.2794	0.06909	0.3825:0.0:0.3239:0.2936	.	.	.	.	X	529;584;590	.	.	R	-	1	2	TRPC7	135595046	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	0.348000	0.20031	0.117000	0.18138	0.650000	0.86243	CGA	TRPC7	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel	ENSG00000069018		0.398	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	364	0.27	1	G	NM_020389		135567147	135567147	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000502753	ensembl	human	novel	69_37n	nonsense	215	24.30	69	SNP	0.987	A
TRPC7	57113	genome.wustl.edu	37	5	135601912	135601912	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:135601912G>T	ENST00000513104.1	-	5	1623	c.1341C>A	c.(1339-1341)gtC>gtA	p.V447V	TRPC7_ENST00000426057.2_Silent_p.V331V|TRPC7_ENST00000355180.3_Silent_p.V386V	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	447					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTACCTAAGACCCACTTCA	0.388																																						dbGAP											0													205.0	192.0	196.0					5																	135601912		1863	4109	5972	-	-	-	SO:0001819	synonymous_variant	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1341C>A	5.37:g.135601912G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L392I	ENST00000513104.1	37	c.1174	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	8.354	0.831627	0.16820	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.37	-1.18	0.09617	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	-23.2701	1.6997	0.02870	0.4177:0.2782:0.178:0.1262	.	.	.	.	I	331;386;392	.	.	L	-	1	0	TRPC7	135629811	0.876000	0.30132	0.996000	0.52242	0.994000	0.84299	0.045000	0.14013	-0.117000	0.11872	0.563000	0.77884	CTT	TRPC7	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel	ENSG00000069018		0.388	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	330	0.00	0	G	NM_020389		135601912	135601912	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000502753	ensembl	human	novel	69_37n	missense	230	27.90	89	SNP	0.970	T
TRPM1	4308	genome.wustl.edu	37	15	31294696	31294696	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:31294696A>C	ENST00000256552.6	-	28	4354	c.4207T>G	c.(4207-4209)Tta>Gta	p.L1403V	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.L1420V|TRPM1_ENST00000397795.2_Missense_Mutation_p.L1381V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTTTATTTAAACTTGGGGAA	0.363																																						dbGAP											0													170.0	158.0	162.0					15																	31294696		1847	4089	5936	-	-	-	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4207T>G	15.37:g.31294696A>C	ENSP00000256552:p.Leu1403Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L1420V	ENST00000256552.6	37	c.4258	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	A	1.019	-0.685545	0.03328	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.50001	0.78;0.76;0.78	4.68	-0.663	0.11410	.	7.571850	0.00166	N	0.000008	T	0.36468	0.0968	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.18304	-1.0341	10	0.33940	T	0.23	-0.336	8.0911	0.30801	0.3878:0.4763:0.1359:0.0	.	1375;1381	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	1381;1420;1403;1381	ENSP00000380897:L1381V;ENSP00000437849:L1420V;ENSP00000256552:L1403V	ENSP00000256552:L1403V	L	-	1	2	TRPM1	29081988	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.058000	0.14301	-0.439000	0.07222	-0.297000	0.09499	TTA	TRPM1	-	NULL	ENSG00000134160		0.363	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	578	0.00	0	A	NM_002420		31294696	31294696	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	missense	288	29.41	120	SNP	0.000	C
TRPM1	4308	genome.wustl.edu	37	15	31295190	31295190	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:31295190C>T	ENST00000256552.6	-	28	3860	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1255Q|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1216Q	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGAGCAAGTCGAAGGTCAAC	0.428																																						dbGAP											0													79.0	76.0	77.0					15																	31295190		1874	4103	5977	-	-	-	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3713G>A	15.37:g.31295190C>T	ENSP00000256552:p.Arg1238Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R1255Q	ENST00000256552.6	37	c.3764	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121204	0.56613	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.73152	-0.72;-0.72;-0.72	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	L	0.54965	1.715	0.58432	D	0.999999	P;P	0.50156	0.932;0.609	B;B	0.43194	0.411;0.246	T	0.71297	-0.4635	10	0.38643	T	0.18	-14.295	18.7628	0.91860	0.0:1.0:0.0:0.0	.	1210;1216	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	Q	1216;1255;1238;1216	ENSP00000380897:R1216Q;ENSP00000437849:R1255Q;ENSP00000256552:R1238Q	ENSP00000256552:R1238Q	R	-	2	0	TRPM1	29082482	1.000000	0.71417	0.953000	0.39169	0.937000	0.57800	7.487000	0.81328	2.429000	0.82318	0.650000	0.86243	CGA	TRPM1	-	NULL	ENSG00000134160		0.428	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	152	0.00	0	C	NM_002420		31295190	31295190	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	missense	65	18.75	15	SNP	1.000	T
TRPM1	4308	genome.wustl.edu	37	15	31321583	31321583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:31321583C>A	ENST00000256552.6	-	24	3286	c.3139G>T	c.(3139-3141)Gaa>Taa	p.E1047*	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.E1064*|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.E1025*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGATTAATTTCCATGGCGTAG	0.338																																						dbGAP											0													114.0	104.0	107.0					15																	31321583		1852	4087	5939	-	-	-	SO:0001587	stop_gained	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3139G>T	15.37:g.31321583C>A	ENSP00000256552:p.Glu1047*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.E1064*	ENST00000256552.6	37	c.3190	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	43	10.116039	0.99339	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	5.37	5.37	0.77165	.	0.123748	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.1665	19.4881	0.95039	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1064;1047;1025	.	ENSP00000256552:E1047X	E	-	1	0	TRPM1	29108875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.421000	0.80204	2.679000	0.91253	0.650000	0.86243	GAA	TRPM1	-	pfam_Ion_trans_dom	ENSG00000134160		0.338	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	256	0.00	0	C	NM_002420		31321583	31321583	-1	no_errors	ENST00000542188	ensembl	human	known	69_37n	nonsense	145	31.60	67	SNP	1.000	A
TRPM3	80036	genome.wustl.edu	37	9	73213506	73213506	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:73213506G>A	ENST00000377111.2	-	20	3084	c.2841C>T	c.(2839-2841)atC>atT	p.I947I	TRPM3_ENST00000396285.1_Silent_p.I794I|TRPM3_ENST00000358082.3_Silent_p.I809I|TRPM3_ENST00000377110.3_Silent_p.I947I|TRPM3_ENST00000357533.2_Silent_p.I951I|TRPM3_ENST00000423814.3_Silent_p.I974I|TRPM3_ENST00000408909.2_Silent_p.I806I|TRPM3_ENST00000396292.4_Silent_p.I819I|TRPM3_ENST00000360823.2_Silent_p.I809I|TRPM3_ENST00000377106.1_Silent_p.I819I|TRPM3_ENST00000396280.5_Silent_p.I796I|TRPM3_ENST00000377105.1_Silent_p.I806I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	972					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAGGATGGCGATGAGGTCCG	0.502																																						dbGAP											0													148.0	124.0	132.0					9																	73213506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2841C>T	9.37:g.73213506G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R796C	ENST00000377111.2	37	c.2386		9	.	.	.	.	.	.	.	.	.	.	g	9.288	1.049869	0.19827	.	.	ENSG00000083067	ENST00000396280	.	.	.	4.96	-2.81	0.05805	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50800	-0.8785	4	.	.	.	-19.4903	10.726	0.46068	0.2569:0.0:0.5323:0.2108	.	.	.	.	C	796	.	.	R	-	1	0	TRPM3	72403326	0.881000	0.30235	0.952000	0.39060	0.936000	0.57629	-0.025000	0.12413	-1.185000	0.02716	-1.899000	0.00529	CGC	TRPM3	-	pfam_Ion_trans_dom	ENSG00000083067		0.502	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	123	0.00	0	G	NM_206945		73213506	73213506	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000396280	ensembl	human	known	69_37n	missense	91	24.19	30	SNP	0.853	A
TRPM3	80036	genome.wustl.edu	37	9	73457896	73457896	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:73457896A>C	ENST00000377097.3	-	3	492	c.365T>G	c.(364-366)tTt>tGt	p.F122C	TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000358082.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000396283.1_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000377105.1_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	0					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGTCATGGAAAGCGACAGCA	0.408																																						dbGAP											0													83.0	77.0	79.0					9																	73457896		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377097.3:c.365T>G	9.37:g.73457896A>C	ENSP00000366301:p.Phe122Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	NULL	p.F165V	ENST00000377097.3	37	c.493		9	.	.	.	.	.	.	.	.	.	.	A	6.087	0.384414	0.11524	.	.	ENSG00000083067	ENST00000377097	.	.	.	4.35	0.874	0.19124	.	.	.	.	.	T	0.08447	0.0210	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33854	-0.9852	5	0.02654	T	1	.	1.1754	0.01834	0.2461:0.3328:0.0966:0.3245	.	.	.	.	V	165	.	ENSP00000366301:F165V	F	-	1	0	TRPM3	72647716	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.992000	0.29667	0.074000	0.16767	0.459000	0.35465	TTC	TRPM3	-	NULL	ENSG00000083067		0.408	TRPM3-006	PUTATIVE	basic	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000052615.2	112	0.00	0	A	NM_206945		73457896	73457896	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000377097	ensembl	human	putative	69_37n	missense	79	15.96	15	SNP	0.000	C
TRPM4	54795	genome.wustl.edu	37	19	49684694	49684694	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:49684694C>A	ENST00000252826.5	+	10	1365	c.1239C>A	c.(1237-1239)ctC>ctA	p.L413L	TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Silent_p.L413L|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	413					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGAGTGAACTCTTTCGGGGGG	0.587																																						dbGAP											0													66.0	62.0	63.0					19																	49684694		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.1239C>A	19.37:g.49684694C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.L413	ENST00000252826.5	37	c.1239	CCDS33073.1	19																																																																																			TRPM4	-	NULL	ENSG00000130529		0.587	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	246	0.00	0	C	NM_017636		49684694	49684694	+1	no_errors	ENST00000252826	ensembl	human	known	69_37n	silent	170	12.37	24	SNP	0.996	A
TRPM6	140803	genome.wustl.edu	37	9	77376715	77376715	+	Missense_Mutation	SNP	C	C	T	rs373655774		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:77376715C>T	ENST00000360774.1	-	27	4919	c.4682G>A	c.(4681-4683)gGc>gAc	p.G1561D	TRPM6_ENST00000449912.2_Missense_Mutation_p.G1556D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1556D|TRPM6_ENST00000451710.3_Missense_Mutation_p.G1561D|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1561D	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1561					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTGAAGAGCCTGAAAGATC	0.423																																						dbGAP											0													134.0	124.0	127.0					9																	77376715		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4682G>A	9.37:g.77376715C>T	ENSP00000354006:p.Gly1561Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.G1561D	ENST00000360774.1	37	c.4682	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	9.175	1.022221	0.19433	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.52295	0.77;0.77;0.77;0.77;0.67	5.68	-1.08	0.09936	.	1.042200	0.07491	N	0.905606	T	0.23965	0.0580	N	0.08118	0	0.09310	N	1	B;B;B	0.23990	0.057;0.095;0.095	B;B;B	0.18871	0.01;0.023;0.023	T	0.16660	-1.0395	10	0.31617	T	0.26	.	6.0208	0.19628	0.0:0.2951:0.3456:0.3592	.	1561;1556;1556	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	D	1561;1561;1556;1556;1561	ENSP00000354006:G1561D;ENSP00000407341:G1561D;ENSP00000396672:G1556D;ENSP00000354962:G1556D;ENSP00000366060:G1561D	ENSP00000354006:G1561D	G	-	2	0	TRPM6	76566535	0.005000	0.15991	0.001000	0.08648	0.383000	0.30230	0.043000	0.13971	-0.384000	0.07845	0.655000	0.94253	GGC	TRPM6	-	NULL	ENSG00000119121		0.423	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	367	0.27	1	C	NM_017662		77376715	77376715	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	195	25.76	68	SNP	0.003	T
TRPM6	140803	genome.wustl.edu	37	9	77377907	77377907	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:77377907G>A	ENST00000360774.1	-	26	3917	c.3680C>T	c.(3679-3681)gCt>gTt	p.A1227V	TRPM6_ENST00000449912.2_Missense_Mutation_p.A1222V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A1222V|TRPM6_ENST00000451710.3_Missense_Mutation_p.A1227V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A1227V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1227					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTGTCAACAGCAGAAAGGAC	0.493																																						dbGAP											0													98.0	98.0	98.0					9																	77377907		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3680C>T	9.37:g.77377907G>A	ENSP00000354006:p.Ala1227Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.A1227V	ENST00000360774.1	37	c.3680	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.532791	0.96446	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.974;0.984;1.0	P;P;D	0.85130	0.742;0.749;0.997	T	0.44742	-0.9308	10	0.87932	D	0	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	1227;1222;1222	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	V	1227;1227;1222;1222;1227;890;890	ENSP00000354006:A1227V;ENSP00000407341:A1227V;ENSP00000396672:A1222V;ENSP00000354962:A1222V;ENSP00000366060:A1227V	ENSP00000309693:A890V	A	-	2	0	TRPM6	76567727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.820000	0.97059	0.650000	0.86243	GCT	TRPM6	-	NULL	ENSG00000119121		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	199	0.00	0	G	NM_017662		77377907	77377907	-1	no_errors	ENST00000451710	ensembl	human	known	69_37n	missense	113	19.15	27	SNP	1.000	A
TRPM7	54822	genome.wustl.edu	37	15	50905911	50905911	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:50905911C>T	ENST00000313478.7	-	15	2044	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.R588Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	588					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		taCCTTTGGTCGGTAGGGCTG	0.299																																						dbGAP											0													72.0	61.0	64.0					15																	50905911		1799	4067	5866	-	-	-	SO:0001583	missense	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1763G>A	15.37:g.50905911C>T	ENSP00000320239:p.Arg588Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.R588Q	ENST00000313478.7	37	c.1763	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368859	0.61624	.	.	ENSG00000092439	ENST00000313478	T	0.74106	-0.81	5.42	5.42	0.78866	.	0.058406	0.64402	D	0.000002	T	0.46852	0.1414	N	0.08118	0	0.36393	D	0.86262	P	0.37997	0.614	B	0.22152	0.038	T	0.60546	-0.7242	10	0.66056	D	0.02	-12.782	7.0798	0.25225	0.0:0.7901:0.0:0.2099	.	588	Q96QT4	TRPM7_HUMAN	Q	588	ENSP00000320239:R588Q	ENSP00000320239:R588Q	R	-	2	0	TRPM7	48693203	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.936000	0.70153	2.542000	0.85734	0.563000	0.77884	CGA	TRPM7	-	NULL	ENSG00000092439		0.299	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	156	0.64	1	C	NM_017672		50905911	50905911	-1	no_errors	ENST00000313478	ensembl	human	known	69_37n	missense	166	13.54	26	SNP	1.000	T
TRPS1	7227	genome.wustl.edu	37	8	116426338	116426338	+	Silent	SNP	C	C	T	rs550119611		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:116426338C>T	ENST00000220888.5	-	6	3918	c.3759G>A	c.(3757-3759)acG>acA	p.T1253T	TRPS1_ENST00000520276.1_Silent_p.T1257T|TRPS1_ENST00000519076.1_Silent_p.T1007T|TRPS1_ENST00000395715.3_Silent_p.T1266T			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1253	Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CATATTTGTCCGTGCAAAGAT	0.433									Langer-Giedion syndrome																													dbGAP											0													180.0	169.0	173.0					8																	116426338		1952	4149	6101	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3759G>A	8.37:g.116426338C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.T1266	ENST00000220888.5	37	c.3798		8																																																																																			TRPS1	-	smart_Znf_C2H2-like	ENSG00000104447		0.433	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	132	0.00	0	C	NM_014112		116426338	116426338	-1	no_errors	ENST00000395715	ensembl	human	known	69_37n	silent	73	24.49	24	SNP	1.000	T
TRPS1	7227	genome.wustl.edu	37	8	116426955	116426955	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:116426955C>A	ENST00000220888.5	-	6	3301	c.3142G>T	c.(3142-3144)Gat>Tat	p.D1048Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.D802Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.D1061Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438									Langer-Giedion syndrome																													dbGAP											3	Substitution - Missense(3)	prostate(3)											165.0	157.0	160.0					8																	116426955		1886	4114	6000	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3142G>T	8.37:g.116426955C>A	ENSP00000220888:p.Asp1048Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.D1061Y	ENST00000220888.5	37	c.3181		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.049095|3.049095	0.55110|0.55110	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98531|.	-4.98;-4.96;-4.93;-4.96|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057572|.	0.64402|.	D|.	0.000001|.	T|T	0.48021|0.48021	0.1477|0.1477	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D;D|.	0.63880|.	0.993;0.989;0.993|.	P;P;P|.	0.59487|.	0.858;0.726;0.858|.	T|T	0.43163|0.43163	-0.9408|-0.9408	10|5	0.87932|.	D|.	0|.	.|.	19.865|19.865	0.96801|0.96801	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1052;1048;1061|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	Y|I	1061;1048;802;1052|172	ENSP00000379065:D1061Y;ENSP00000220888:D1048Y;ENSP00000428910:D802Y;ENSP00000428680:D1052Y|.	ENSP00000220888:D1048Y|.	D|R	-|-	1|2	0|0	TRPS1|TRPS1	116496131|116496131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.241000|3.241000	0.51376|0.51376	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GAT|AGA	TRPS1	-	NULL	ENSG00000104447		0.438	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	210	0.00	0	C	NM_014112		116426955	116426955	-1	no_errors	ENST00000395715	ensembl	human	known	69_37n	missense	155	12.92	23	SNP	1.000	A
TRPV1	7442	genome.wustl.edu	37	17	3489149	3489149	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:3489149C>T	ENST00000571088.1	-	8	1509	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	TRPV1_ENST00000310522.5_Silent_p.K372K|SHPK_ENST00000572705.1_Silent_p.K432K|TRPV1_ENST00000174621.6_Silent_p.K430K|TRPV1_ENST00000425167.2_Silent_p.K443K|TRPV1_ENST00000399756.4_Silent_p.K432K|TRPV1_ENST00000399759.3_Silent_p.K432K|TRPV1_ENST00000576351.1_Silent_p.K422K	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	432					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGAAGATGCGCTTGACGAATC	0.567																																					Melanoma(38;962 1762 15789)	dbGAP											0													92.0	103.0	99.0					17																	3489149		2136	4241	6377	-	-	-	SO:0001819	synonymous_variant	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1296G>A	17.37:g.3489149C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.K432	ENST00000571088.1	37	c.1296	CCDS45576.1	17																																																																																			TRPV1	-	tigrfam_TRP_channel	ENSG00000196689		0.567	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1	149	0.00	0	C	NM_018727		3489149	3489149	-1	no_errors	ENST00000399756	ensembl	human	known	69_37n	silent	57	21.92	16	SNP	0.998	T
TRPV1	7442	genome.wustl.edu	37	17	3493656	3493656	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:3493656C>T	ENST00000571088.1	-	5	848	c.635G>A	c.(634-636)aGa>aAa	p.R212K	TRPV1_ENST00000310522.5_Missense_Mutation_p.R212K|SHPK_ENST00000572705.1_Missense_Mutation_p.R212K|TRPV1_ENST00000174621.6_Missense_Mutation_p.R210K|TRPV1_ENST00000425167.2_Missense_Mutation_p.R212K|TRPV1_ENST00000399756.4_Missense_Mutation_p.R212K|TRPV1_ENST00000399759.3_Missense_Mutation_p.R212K|TRPV1_ENST00000576351.1_Missense_Mutation_p.R212K	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	212					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CATGTTGCGTCTCTCGATGGC	0.632																																					Melanoma(38;962 1762 15789)	dbGAP											0													69.0	74.0	73.0					17																	3493656		2162	4268	6430	-	-	-	SO:0001583	missense	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.635G>A	17.37:g.3493656C>T	ENSP00000461007:p.Arg212Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.R212K	ENST00000571088.1	37	c.635	CCDS45576.1	17	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286789	0.59867	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.66995	-0.07;-0.07;-0.07;-0.24;-0.24	5.29	5.29	0.74685	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	N	0.02379	-0.575	0.54753	D	0.999986	P;P;P;D	0.69078	0.615;0.886;0.546;0.997	P;B;B;D	0.72075	0.515;0.446;0.397;0.976	T	0.67569	-0.5637	10	0.23891	T	0.37	-13.3862	18.2953	0.90143	0.0:1.0:0.0:0.0	.	212;210;212;212	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	K	212;212;210;212;212	ENSP00000382661:R212K;ENSP00000382659:R212K;ENSP00000174621:R210K;ENSP00000409627:R212K;ENSP00000311692:R212K	ENSP00000174621:R210K	R	-	2	0	TRPV1	3440405	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	5.659000	0.68010	2.641000	0.89580	0.591000	0.81541	AGA	TRPV1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000196689		0.632	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1	106	0.00	0	C	NM_018727		3493656	3493656	-1	no_errors	ENST00000399756	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	T
TRPV2	51393	genome.wustl.edu	37	17	16325933	16325933	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:16325933T>C	ENST00000338560.7	+	4	754	c.355T>C	c.(355-357)Tgc>Cgc	p.C119R	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	119	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGGTAAGACGTGCCTGATGAA	0.587																																						dbGAP											0													68.0	57.0	61.0					17																	16325933		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.355T>C	17.37:g.16325933T>C	ENSP00000342222:p.Cys119Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.C119R	ENST00000338560.7	37	c.355	CCDS32576.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.17|17.17	3.320107|3.320107	0.60634|0.60634	.|.	.|.	ENSG00000187688|ENSG00000187688	ENST00000338560|ENST00000455666	D|.	0.89123|.	-2.47|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Ankyrin repeat-containing domain (2);|.	0.182425|.	0.64402|.	D|.	0.000011|.	T|T	0.75451|0.75451	0.3851|0.3851	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.71184|.	0.972|.	T|T	0.76597|0.76597	-0.2901|-0.2901	10|5	0.66056|.	D|.	0.02|.	-25.4061|-25.4061	14.7646|14.7646	0.69629|0.69629	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	119|.	Q9Y5S1|.	TRPV2_HUMAN|.	R|A	119|76	ENSP00000342222:C119R|.	ENSP00000342222:C119R|.	C|V	+|+	1|2	0|0	TRPV2|TRPV2	16266658|16266658	0.857000|0.857000	0.29778|0.29778	0.967000|0.967000	0.41034|0.41034	0.969000|0.969000	0.65631|0.65631	1.488000|1.488000	0.35551|0.35551	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TGC|GTG	TRPV2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000187688		0.587	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	90	0.00	0	T	NM_016113		16325933	16325933	+1	no_errors	ENST00000338560	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.841	C
TSC22D2	9819	genome.wustl.edu	37	3	150176284	150176284	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:150176284C>A	ENST00000361875.3	+	4	3220	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S711Y	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	735					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S735Y(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGTTAAAATCTCTTTCAAGC	0.398																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											111.0	108.0	109.0					3																	150176284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.2204C>A	3.37:g.150176284C>A	ENSP00000354543:p.Ser735Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.S735Y	ENST00000361875.3	37	c.2204	CCDS3149.1	3	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671900	0.29693	.	.	ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136	T;T	0.37058	1.22;1.36	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000069	T	0.58452	0.2123	L	0.53249	1.67	0.48452	D	0.999651	D;D	0.76494	0.998;0.999	D;D	0.83275	0.979;0.996	T	0.59495	-0.7444	10	0.87932	D	0	.	19.4956	0.95070	0.0:1.0:0.0:0.0	.	711;735	O75157-2;O75157	.;T22D2_HUMAN	Y	184;735;711	ENSP00000354543:S735Y;ENSP00000354893:S711Y	ENSP00000354893:S711Y	S	+	2	0	TSC22D2	151658974	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	5.654000	0.67974	2.693000	0.91896	0.655000	0.94253	TCT	TSC22D2	-	pfam_TSC-22_Dip_Bun	ENSG00000196428		0.398	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	210	0.00	0	C	NM_014779		150176284	150176284	+1	no_errors	ENST00000361875	ensembl	human	known	69_37n	missense	139	12.58	20	SNP	1.000	A
NCBP2L	392517	genome.wustl.edu	37	X	107018505	107018505	+	5'Flank	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107018505G>A	ENST00000509000.2	+	0	0				TSC22D3_ENST00000506081.1_Missense_Mutation_p.R49W|TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R49W|TSC22D3_ENST00000372383.4_Missense_Mutation_p.R49W|TSC22D3_ENST00000315660.4_Missense_Mutation_p.R49W			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						TGCAGCTGCCGAAAGTTGCTC	0.607																																						dbGAP											0													82.0	68.0	73.0					X																	107018505		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018505G>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.R49W	ENST00000509000.2	37	c.145		X	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644680	0.67358	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965;ENST00000502961	.	.	.	4.69	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.55924	0.1951	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.59010	-0.7534	9	0.87932	D	0	-16.9131	10.9918	0.47553	0.0:0.0:0.8123:0.1877	.	49	Q99576-3	.	W	49	.	ENSP00000314655:R49W	R	-	1	2	TSC22D3	106905161	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.828000	0.55753	1.066000	0.40716	0.600000	0.82982	CGG	TSC22D3	-	NULL	ENSG00000157514		0.607	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057850.2	121	0.82	1	G	XM_373362		107018505	107018505	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	missense	53	20.29	14	SNP	1.000	A
TSEN2	80746	genome.wustl.edu	37	3	12574283	12574283	+	3'UTR	SNP	C	C	A	rs577818131		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:12574283C>A	ENST00000284995.6	+	0	1848				TSEN2_ENST00000454502.2_3'UTR|TSEN2_ENST00000314571.7_3'UTR|TSEN2_ENST00000402228.3_3'UTR|TSEN2_ENST00000475595.1_3'UTR|TSEN2_ENST00000383797.5_3'UTR|TSEN2_ENST00000415684.1_3'UTR|C3orf83_ENST00000567514.1_Intron	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTAAAAAGTTCTTTTTGTTGT	0.348																																						dbGAP											0													91.0	72.0	78.0					3																	12574283		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.*63C>A	3.37:g.12574283C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	RNA	SNP	-	NULL	ENST00000284995.6	37	NULL	CCDS2611.1	3																																																																																			TSEN2	-	-	ENSG00000154743		0.348	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN2	HGNC	protein_coding	OTTHUMT00000251981.1	118	0.00	0	C	NM_025265		12574283	12574283	+1	no_errors	ENST00000475595	ensembl	human	putative	69_37n	rna	123	12.77	18	SNP	0.002	A
TSEN54	283989	genome.wustl.edu	37	17	73519777	73519777	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:73519777C>A	ENST00000333213.6	+	10	1383	c.1347C>A	c.(1345-1347)atC>atA	p.I449I	LLGL2_ENST00000392550.3_5'Flank|LLGL2_ENST00000375227.4_5'Flank|LLGL2_ENST00000167462.5_5'Flank|LLGL2_ENST00000578363.1_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	449					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGAAATCATCTTTGATGTTT	0.502																																						dbGAP											0													90.0	87.0	88.0					17																	73519777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1347C>A	17.37:g.73519777C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	NULL	p.I449	ENST00000333213.6	37	c.1347	CCDS11724.1	17																																																																																			TSEN54	-	NULL	ENSG00000182173		0.502	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	68	0.00	0	C	NM_207346		73519777	73519777	+1	no_errors	ENST00000333213	ensembl	human	known	69_37n	silent	23	32.35	11	SNP	0.996	A
METTL21B	25895	genome.wustl.edu	37	12	58176905	58176905	+	IGR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:58176905C>A	ENST00000300209.8	+	0	2563				RP11-571M6.15_ENST00000471530.1_Missense_Mutation_p.F38L|TSFM_ENST00000540550.1_Missense_Mutation_p.L24M|TSFM_ENST00000548851.1_Missense_Mutation_p.L24M|TSFM_ENST00000550559.1_Missense_Mutation_p.L24M|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000454289.3_Missense_Mutation_p.L24M|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.L24M|TSFM_ENST00000543727.1_Missense_Mutation_p.L24M|RP11-571M6.15_ENST00000553083.1_3'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						TGGGTCTCTTCTGCGTCAGTC	0.587											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													52.0	54.0	53.0					12																	58176905		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176905C>A		Somatic	1028	WXS	Illumina GAIIx	Phase_IV	Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like	p.L24M	ENST00000300209.8	37	c.70	CCDS8957.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.064635|3.064635	0.55432|0.55432	.|.	.|.	ENSG00000123297|ENSG00000257921	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851|ENST00000546504	.|T	.|0.06933	.|3.24	4.81|4.81	0.906|0.906	0.19314|0.19314	.|.	1.897870|.	0.02837|.	N|.	0.127408|.	T|T	0.07279|0.07279	0.0184|0.0184	L|L	0.27053|0.27053	0.805|0.805	0.20821|0.20821	N|N	0.999848|0.999848	P;P;P|.	0.48503|.	0.61;0.553;0.911|.	B;B;P|.	0.48627|.	0.219;0.157;0.584|.	T|T	0.36335|0.36335	-0.9752|-0.9752	9|7	0.62326|0.87932	D|D	0.03|0	.|.	5.2509|5.2509	0.15521|0.15521	0.0:0.5788:0.1626:0.2586|0.0:0.5788:0.1626:0.2586	.|.	24;24;24|.	B4E391;P43897;P43897-2|.	.;EFTS_HUMAN;.|.	M|Y	24|30	.|ENSP00000449544:S30Y	ENSP00000313877:L24M|ENSP00000449544:S30Y	L|S	+|+	1|2	2|0	TSFM|RP11-571M6.15	56463172|56463172	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.118000|0.118000	0.20060|0.20060	-0.382000|-0.382000	0.07408|0.07408	0.059000|0.059000	0.16252|0.16252	-0.369000|-0.369000	0.07265|0.07265	CTG|TCT	TSFM	-	NULL	ENSG00000123297		0.587	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409268.1	52	0.00	0	C	NM_015433		58176905	58176905	+1	no_errors	ENST00000323833	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.000	A
TSGA10	80705	genome.wustl.edu	37	2	99634699	99634699	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:99634699C>T	ENST00000393483.3	-	20	2880	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	TSGA10_ENST00000355053.4_Missense_Mutation_p.R679Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.R679Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.R679Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	679	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GTCAGGAGATCGATGGTGAGC	0.383																																						dbGAP											0													129.0	121.0	124.0					2																	99634699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.2036G>A	2.37:g.99634699C>T	ENSP00000377123:p.Arg679Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.R679Q	ENST00000393483.3	37	c.2036	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082054	0.55861	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52	5.04	3.21	0.36854	.	0.337759	0.22869	N	0.054646	T	0.07863	0.0197	L	0.38175	1.15	0.80722	D	1	P	0.43701	0.815	B	0.30179	0.112	T	0.31503	-0.9941	10	0.34782	T	0.22	-2.6895	7.6016	0.28079	0.2911:0.6289:0.0:0.08	.	679	Q9BZW7	TSG10_HUMAN	Q	679;679;679;679;609;679	ENSP00000377123:R679Q;ENSP00000386956:R679Q;ENSP00000347161:R679Q;ENSP00000444419:R679Q;ENSP00000386508:R609Q;ENSP00000377122:R679Q	ENSP00000347161:R679Q	R	-	2	0	TSGA10	99001131	0.991000	0.36638	0.998000	0.56505	0.997000	0.91878	0.849000	0.27723	0.793000	0.33875	0.655000	0.94253	CGA	TSGA10	-	NULL	ENSG00000135951		0.383	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	242	0.00	0	C	NM_182911		99634699	99634699	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	missense	161	13.37	25	SNP	0.995	T
TSGA10	80705	genome.wustl.edu	37	2	99722136	99722136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:99722136G>A	ENST00000393483.3	-	8	1079	c.235C>T	c.(235-237)Cga>Tga	p.R79*	TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R79*|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R79*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R79*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R79*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	79					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATTTCTCGTCGAAGTCGGGTA	0.368																																						dbGAP											0													197.0	189.0	192.0					2																	99722136		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.235C>T	2.37:g.99722136G>A	ENSP00000377123:p.Arg79*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Nonsense_Mutation	SNP	NULL	p.R79*	ENST00000393483.3	37	c.235	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.833318	0.98970	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	.	.	.	4.99	4.04	0.47022	.	0.158903	0.29853	N	0.011034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6381	7.9492	0.30003	0.09:0.0:0.7388:0.1712	.	.	.	.	X	79	.	ENSP00000347161:R79X	R	-	1	2	TSGA10	99088568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.297000	0.43593	2.601000	0.87937	0.650000	0.86243	CGA	TSGA10	-	NULL	ENSG00000135951		0.368	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	676	0.15	1	G	NM_182911		99722136	99722136	-1	no_errors	ENST00000355053	ensembl	human	known	69_37n	nonsense	362	17.16	75	SNP	1.000	A
TSHR	7253	genome.wustl.edu	37	14	81610385	81610385	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:81610385C>T	ENST00000541158.2	+	11	2305	c.1983C>T	c.(1981-1983)atC>atT	p.I661I	TSHR_ENST00000298171.2_Silent_p.I661I|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	661			Missing (in hyperthyroidism; associated with hyperfunctioning thyroid adenomas). {ECO:0000269|PubMed:9253356}.		adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACTCCAAAATCTTGCTGGTAC	0.448			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													181.0	179.0	180.0					14																	81610385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1983C>T	14.37:g.81610385C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.I661	ENST00000541158.2	37	c.1983	CCDS9872.1	14																																																																																			TSHR	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000165409		0.448	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	342	0.00	0	C	NM_000369		81610385	81610385	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	silent	242	14.79	42	SNP	0.998	T
TSPAN1	10103	genome.wustl.edu	37	1	46650308	46650308	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:46650308G>A	ENST00000372003.1	+	5	771	c.307G>A	c.(307-309)Gct>Act	p.A103T	TSPAN1_ENST00000498443.1_Intron	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	103					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TGAGGTTGCAGCTGCTGTGGT	0.552																																						dbGAP											0													194.0	176.0	182.0					1																	46650308		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.307G>A	1.37:g.46650308G>A	ENSP00000361072:p.Ala103Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.A103T	ENST00000372003.1	37	c.307	CCDS530.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021906	0.93462	.	.	ENSG00000117472	ENST00000372003	T	0.80994	-1.44	4.51	4.51	0.55191	.	0.304245	0.34531	N	0.003897	D	0.88411	0.6429	M	0.75085	2.285	0.48571	D	0.999671	D	0.63880	0.993	P	0.62813	0.907	D	0.89402	0.3696	10	0.56958	D	0.05	.	17.7526	0.88439	0.0:0.0:1.0:0.0	.	103	O60635	TSN1_HUMAN	T	103	ENSP00000361072:A103T	ENSP00000361072:A103T	A	+	1	0	TSPAN1	46422895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.823000	0.92018	2.496000	0.84212	0.455000	0.32223	GCT	TSPAN1	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000117472		0.552	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN1	HGNC	protein_coding	OTTHUMT00000020135.1	381	0.00	0	G	NM_005727		46650308	46650308	+1	no_errors	ENST00000372003	ensembl	human	known	69_37n	missense	164	21.15	44	SNP	1.000	A
TSNAX	7257	genome.wustl.edu	37	1	231696925	231696925	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:231696925G>A	ENST00000366639.4	+	5	577	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.R140Q	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	140	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				ATCAAAACACGATCATTAATT	0.289																																						dbGAP											0													53.0	59.0	57.0					1																	231696925		2203	4295	6498	-	-	-	SO:0001583	missense	0			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.419G>A	1.37:g.231696925G>A	ENSP00000355599:p.Arg140Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APC6	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.R140Q	ENST00000366639.4	37	c.419	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635218	0.87760	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.56	4.65	0.58169	Translin, N-terminal (1);	0.058679	0.64402	N	0.000002	T	0.23410	0.0566	N	0.13198	0.31	0.52501	D	0.99995	P	0.41214	0.742	B	0.26693	0.072	T	0.09975	-1.0650	9	0.09843	T	0.71	.	14.6941	0.69107	0.07:0.0:0.93:0.0	.	140	Q99598	TSNAX_HUMAN	Q	140;147	.	ENSP00000355599:R140Q	R	+	2	0	TSNAX	229763548	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.015000	0.76387	1.490000	0.48466	0.655000	0.94253	CGA	TSNAX	-	pfam_Translin,superfamily_Translin	ENSG00000116918		0.289	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2	125	0.00	0	G	NM_005999		231696925	231696925	+1	no_errors	ENST00000366639	ensembl	human	known	69_37n	missense	90	20.35	23	SNP	1.000	A
TSPAN16	26526	genome.wustl.edu	37	19	11417252	11417252	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11417252C>A	ENST00000316737.1	+	5	600				TSPAN16_ENST00000590327.1_Intron|TSPAN16_ENST00000592955.1_Intron|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAAAGGGACTCTCCAAGTATT	0.423																																						dbGAP											0													65.0	64.0	64.0					19																	11417252		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.451-28C>A	19.37:g.11417252C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	K7EN22|K7EPD8|Q8N6J7	Silent	SNP	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	p.L152	ENST00000316737.1	37	c.456	CCDS12256.1	19																																																																																			TSPAN16	-	NULL	ENSG00000130167		0.423	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	TSPAN16	HGNC	protein_coding	OTTHUMT00000453204.1	121	0.00	0	C	NM_012466		11417252	11417252	+1	no_errors	ENST00000337994	ensembl	human	known	69_37n	silent	154	16.30	30	SNP	0.000	A
TSPYL5	85453	genome.wustl.edu	37	8	98289179	98289179	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:98289179G>A	ENST00000322128.3	-	1	997	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	298					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGTTGCGATCGAAGTAGAACT	0.478																																						dbGAP											0													82.0	83.0	83.0					8																	98289179		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.894C>T	8.37:g.98289179G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRF0|Q9C0B3	Silent	SNP	pfam_NAP_family	p.F298	ENST00000322128.3	37	c.894	CCDS34927.1	8																																																																																			TSPYL5	-	pfam_NAP_family	ENSG00000180543		0.478	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	129	0.00	0	G	NM_033512		98289179	98289179	-1	no_errors	ENST00000322128	ensembl	human	known	69_37n	silent	100	15.83	19	SNP	0.059	A
TSR1	55720	genome.wustl.edu	37	17	2236276	2236276	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:2236276A>C	ENST00000301364.5	-	7	2363	c.1284T>G	c.(1282-1284)gaT>gaG	p.D428E	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	428	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCCATAAAATCCTCATGTT	0.443																																						dbGAP											0													170.0	154.0	160.0					17																	2236276		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1284T>G	17.37:g.2236276A>C	ENSP00000301364:p.Asp428Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN	p.D428E	ENST00000301364.5	37	c.1284	CCDS32525.1	17	.	.	.	.	.	.	.	.	.	.	A	12.31	1.901030	0.33535	.	.	ENSG00000167721	ENST00000301364	T	0.12147	2.71	4.74	3.64	0.41730	.	1.586910	0.03293	N	0.187936	T	0.11281	0.0275	L	0.31294	0.92	0.35783	D	0.821827	B	0.02656	0.0	B	0.12156	0.007	T	0.44406	-0.9330	10	0.02654	T	1	-4.0484	9.727	0.40337	0.8446:0.0:0.0:0.1554	.	428	Q2NL82	TSR1_HUMAN	E	428	ENSP00000301364:D428E	ENSP00000301364:D428E	D	-	3	2	TSR1	2183026	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	1.499000	0.35671	0.809000	0.34255	0.455000	0.32223	GAT	TSR1	-	NULL	ENSG00000167721		0.443	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	144	0.00	0	A	NM_018128		2236276	2236276	-1	no_errors	ENST00000301364	ensembl	human	known	69_37n	missense	66	45.90	56	SNP	1.000	C
TSSC1	7260	genome.wustl.edu	37	2	3200774	3200774	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:3200774C>T	ENST00000382125.4	-	6	723	c.531G>A	c.(529-531)gcG>gcA	p.A177A	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000398659.4_Silent_p.A204A	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	177										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTTCCAGGGACGCTGAGCTGG	0.527																																					Colon(140;1261 1762 4183 34270 49743)	dbGAP											0													109.0	72.0	84.0					2																	3200774		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.531G>A	2.37:g.3200774C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	NULL	p.R125H	ENST00000382125.4	37	c.374	CCDS1651.1	2																																																																																			TSSC1	-	NULL	ENSG00000032389		0.527	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	44	0.00	0	C	NM_003310		3200774	3200774	-1	no_errors	ENST00000435721	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.000	T
TTC17	55761	genome.wustl.edu	37	11	43411364	43411364	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:43411364G>T	ENST00000039989.4	+	3	426	c.412G>T	c.(412-414)Gac>Tac	p.D138Y	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.D138Y	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	138					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D138N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GGAGAGCAAAGACATCAGGTA	0.363																																						dbGAP											1	Substitution - Missense(1)	lung(1)											114.0	113.0	114.0					11																	43411364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.412G>T	11.37:g.43411364G>T	ENSP00000039989:p.Asp138Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D138Y	ENST00000039989.4	37	c.412	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694255	0.68386	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.34072	1.38;1.38	5.02	4.09	0.47781	.	0.134965	0.64402	D	0.000003	T	0.46268	0.1384	L	0.44542	1.39	0.51012	D	0.999904	D;D;D	0.62365	0.984;0.984;0.991	P;P;D	0.64595	0.847;0.736;0.927	T	0.39440	-0.9614	10	0.62326	D	0.03	-12.4355	9.5768	0.39463	0.1574:0.0:0.8426:0.0	.	138;138;138	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	Y	138	ENSP00000299240:D138Y;ENSP00000039989:D138Y	ENSP00000039989:D138Y	D	+	1	0	TTC17	43367940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.826000	0.69293	2.477000	0.83638	0.563000	0.77884	GAC	TTC17	-	NULL	ENSG00000052841		0.363	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	222	0.00	0	G	NM_018259		43411364	43411364	+1	no_errors	ENST00000039989	ensembl	human	known	69_37n	missense	204	10.13	23	SNP	1.000	T
TTC19	54902	genome.wustl.edu	37	17	15928378	15928378	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:15928378G>A	ENST00000261647.5	+	8	1193	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	TTC19_ENST00000486880.2_Missense_Mutation_p.A363T|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	242					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTGCTTAGACGCCTGTGCTCG	0.468																																						dbGAP											0													89.0	81.0	84.0					17																	15928378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.724G>A	17.37:g.15928378G>A	ENSP00000261647:p.Ala242Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.A363T	ENST00000261647.5	37	c.1087	CCDS11174.2	17	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495661	0.12762	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	D	0.94138	-3.36	5.88	-2.22	0.06952	Tetratricopeptide-like helical (1);	0.436525	0.26824	N	0.022320	T	0.79656	0.4483	N	0.11131	0.1	0.33419	D	0.579649	B;B	0.16802	0.019;0.011	B;B	0.17722	0.019;0.007	T	0.70468	-0.4863	10	0.05525	T	0.97	-1.7768	8.6904	0.34262	0.1613:0.0:0.1541:0.6847	.	242;5	Q6DKK2;B3KT23	TTC19_HUMAN;.	T	242;363;242	ENSP00000261647:A242T	ENSP00000261647:A363T	A	+	1	0	TTC19	15869103	0.222000	0.23652	0.350000	0.25708	0.995000	0.86356	0.132000	0.15891	-0.191000	0.10448	0.591000	0.81541	GCC	TTC19	-	smart_TPR_repeat	ENSG00000011295		0.468	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	HGNC	protein_coding	OTTHUMT00000131725.6	142	0.00	0	G	NM_017775		15928378	15928378	+1	no_errors	ENST00000261647	ensembl	human	novel	69_37n	missense	56	34.83	31	SNP	0.560	A
TTC21A	199223	genome.wustl.edu	37	3	39177921	39177921	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:39177921C>A	ENST00000431162.2	+	23	3173	c.3039C>A	c.(3037-3039)ttC>ttA	p.F1013L	TTC21A_ENST00000440121.1_Missense_Mutation_p.F965L|TTC21A_ENST00000301819.6_Missense_Mutation_p.F1014L|TTC21A_ENST00000493856.1_3'UTR			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1013										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCCTGCCTTCTTTGAATTGG	0.423																																						dbGAP											0													145.0	149.0	148.0					3																	39177921		1889	4112	6001	-	-	-	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3039C>A	3.37:g.39177921C>A	ENSP00000398211:p.Phe1013Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F1014L	ENST00000431162.2	37	c.3042	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992180	0.35131	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.35789	1.29;1.29;1.29	4.79	2.98	0.34508	Tetratricopeptide repeat-containing (1);	0.361445	0.26010	N	0.026887	T	0.28699	0.0711	M	0.65975	2.015	0.32175	N	0.581077	B;P;P	0.45531	0.138;0.86;0.78	B;B;B	0.34301	0.018;0.179;0.087	T	0.39840	-0.9594	10	0.14252	T	0.57	-3.7118	10.9034	0.47065	0.0:0.7604:0.0:0.2396	.	965;1014;1013	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	L	1014;996;1013;965	ENSP00000301819:F1014L;ENSP00000398211:F1013L;ENSP00000410882:F965L	ENSP00000301819:F1014L	F	+	3	2	TTC21A	39152925	1.000000	0.71417	0.547000	0.28179	0.740000	0.42216	1.235000	0.32671	0.120000	0.18254	-1.598000	0.00824	TTC	TTC21A	-	pfscan_TPR-contain_dom	ENSG00000168026		0.423	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	223	0.00	0	C	NM_145755		39177921	39177921	+1	no_errors	ENST00000301819	ensembl	human	known	69_37n	missense	102	12.07	14	SNP	1.000	A
TTC21B	79809	genome.wustl.edu	37	2	166737195	166737195	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:166737195C>T	ENST00000243344.7	-	27	3936	c.3799G>A	c.(3799-3801)Gca>Aca	p.A1267T	TTC21B_ENST00000536175.1_Missense_Mutation_p.A205T	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1267					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCACCTACTGCCGGATTTGTC	0.308																																						dbGAP											0													110.0	102.0	105.0					2																	166737195		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3799G>A	2.37:g.166737195C>T	ENSP00000243344:p.Ala1267Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A1267T	ENST00000243344.7	37	c.3799	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	2.616	-0.289744	0.05568	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.37584	1.19;1.19	5.72	0.564	0.17302	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.192673	0.53938	N	0.000044	T	0.14917	0.0360	N	0.12611	0.24	0.27493	N	0.952217	B	0.02656	0.0	B	0.04013	0.001	T	0.13845	-1.0494	10	0.20519	T	0.43	-2.6255	3.9155	0.09220	0.4112:0.3465:0.0:0.2423	.	1267	Q7Z4L5	TT21B_HUMAN	T	205;1267	ENSP00000438692:A205T;ENSP00000243344:A1267T	ENSP00000243344:A1267T	A	-	1	0	TTC21B	166445441	0.787000	0.28750	0.011000	0.14972	0.001000	0.01503	0.853000	0.27777	0.102000	0.17638	0.655000	0.94253	GCA	TTC21B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000123607		0.308	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	295	0.00	0	C	NM_024753		166737195	166737195	-1	no_errors	ENST00000243344	ensembl	human	known	69_37n	missense	198	11.21	25	SNP	0.804	T
TTC23	64927	genome.wustl.edu	37	15	99768843	99768843	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:99768843T>C	ENST00000394132.2	-	5	892	c.75A>G	c.(73-75)agA>agG	p.R25R	TTC23_ENST00000394130.1_Silent_p.R25R|TTC23_ENST00000394129.2_Silent_p.R25R|TTC23_ENST00000558613.1_Silent_p.R25R|TTC23_ENST00000394135.3_Silent_p.R25R|TTC23_ENST00000262074.4_Silent_p.R25R|TTC23_ENST00000558663.1_Silent_p.R25R|TTC23_ENST00000394136.1_Silent_p.R25R			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	25										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGAACTTCTTTCTATGAGTGA	0.408																																						dbGAP											0													151.0	150.0	150.0					15																	99768843		2197	4297	6494	-	-	-	SO:0001819	synonymous_variant	0				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.75A>G	15.37:g.99768843T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Silent	SNP	smart_TPR_repeat	p.R25	ENST00000394132.2	37	c.75	CCDS10379.2	15																																																																																			TTC23	-	NULL	ENSG00000103852		0.408	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	HGNC	protein_coding	OTTHUMT00000303953.2	309	0.00	0	T	NM_022905		99768843	99768843	-1	no_errors	ENST00000262074	ensembl	human	known	69_37n	silent	246	26.13	87	SNP	0.000	C
TTC25	83538	genome.wustl.edu	37	17	40113433	40113433	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:40113433G>T	ENST00000591658.1	+	0	1348							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TATCATCAGAGAACTGAGGAA	0.488																																						dbGAP											0													47.0	47.0	47.0					17																	40113433		1879	4117	5996	-	-	-			0			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40113433G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17																																																																																			TTC25	-	-	ENSG00000204815		0.488	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	103	0.00	0	G	NM_031421		40113433	40113433	+1	no_errors	ENST00000377540	ensembl	human	known	69_37n	rna	68	12.82	10	SNP	0.896	T
TTC27	55622	genome.wustl.edu	37	2	32897449	32897449	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:32897449C>T	ENST00000317907.4	+	8	1281	c.1050C>T	c.(1048-1050)atC>atT	p.I350I		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	350										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTCTTGGAATCTGGTGAGTTA	0.398																																						dbGAP											0													166.0	148.0	154.0					2																	32897449		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1050C>T	2.37:g.32897449C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I350	ENST00000317907.4	37	c.1050	CCDS33176.1	2																																																																																			TTC27	-	NULL	ENSG00000018699		0.398	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	245	0.00	0	C	NM_017735		32897449	32897449	+1	no_errors	ENST00000317907	ensembl	human	known	69_37n	silent	207	16.13	40	SNP	0.961	T
TTC3	7267	genome.wustl.edu	37	21	38522384	38522384	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:38522384C>A	ENST00000399017.2	+	24	4872	c.2125C>A	c.(2125-2127)Cta>Ata	p.L709I	TTC3_ENST00000355666.1_Missense_Mutation_p.L709I|TTC3_ENST00000354749.2_Missense_Mutation_p.L709I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.L399I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	709					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATAGGATTTTCTACAAGGAAT	0.323																																					Ovarian(38;194 1649 35661)	dbGAP											0													69.0	66.0	67.0					21																	38522384		2203	4298	6501	-	-	-	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2125C>A	21.37:g.38522384C>A	ENSP00000381981:p.Leu709Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L709I	ENST00000399017.2	37	c.2125	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.91|15.91	2.973242|2.973242	0.53614|0.53614	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000414818|ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T|T;T;T;T;T;T;T	0.53206|0.59772	0.63|2.06;0.31;2.08;2.31;0.24;2.31;2.31	5.33|5.33	4.44|4.44	0.53790|0.53790	.|.	.|0.250863	.|0.27986	.|N	.|0.017049	T|T	0.65333|0.65333	0.2681|0.2681	L|L	0.32530|0.32530	0.975|0.975	0.42251|0.42251	D|D	0.991978|0.991978	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.78314	.|0.991;0.991	T|T	0.66567|0.66567	-0.5891|-0.5891	7|10	0.72032|0.46703	D|T	0.01|0.11	-14.0489|-14.0489	13.9172|13.9172	0.63905|0.63905	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	.|399;709	.|B4DSZ9;P53804	.|.;TTC3_HUMAN	L|I	72|709;709;691;709;399;709;709	ENSP00000414658:F72L|ENSP00000403943:L709I;ENSP00000408456:L709I;ENSP00000391891:L691I;ENSP00000347889:L709I;ENSP00000442875:L399I;ENSP00000381981:L709I;ENSP00000346791:L709I	ENSP00000414658:F72L|ENSP00000346791:L709I	F|L	+|+	3|1	2|2	TTC3|TTC3	37444254|37444254	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.461000|0.461000	0.32589|0.32589	2.966000|2.966000	0.49208|0.49208	1.383000|1.383000	0.46405|0.46405	-0.251000|-0.251000	0.11542|0.11542	TTC|CTA	TTC3	-	NULL	ENSG00000182670		0.323	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	140	0.00	0	C			38522384	38522384	+1	no_errors	ENST00000354749	ensembl	human	known	69_37n	missense	94	24.00	30	SNP	1.000	A
TTC30B	150737	genome.wustl.edu	37	2	178416235	178416235	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:178416235G>T	ENST00000408939.3	-	1	1507	c.1257C>A	c.(1255-1257)acC>acA	p.T419T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	419					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ATTTCTCCATGGTTTCATCAT	0.393																																						dbGAP											0													240.0	249.0	246.0					2																	178416235		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1257C>A	2.37:g.178416235G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HQ1|Q96NE6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.T419	ENST00000408939.3	37	c.1257	CCDS42784.1	2																																																																																			TTC30B	-	NULL	ENSG00000196659		0.393	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	306	0.00	0	G	NM_152517		178416235	178416235	-1	no_errors	ENST00000408939	ensembl	human	known	69_37n	silent	195	20.00	49	SNP	0.444	T
TTC37	9652	genome.wustl.edu	37	5	94852676	94852676	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:94852676C>A	ENST00000358746.2	-	22	2678	c.2380G>T	c.(2380-2382)Gca>Tca	p.A794S	TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	794						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTGTTTCTGCTAGATGTTGT	0.333																																						dbGAP											0													71.0	64.0	66.0					5																	94852676		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2380G>T	5.37:g.94852676C>A	ENSP00000351596:p.Ala794Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O15077|Q6PJI3	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A794S	ENST00000358746.2	37	c.2380	CCDS4072.1	5	.	.	.	.	.	.	.	.	.	.	C	5.263	0.234056	0.09969	.	.	ENSG00000198677	ENST00000358746	T	0.77877	-1.13	5.34	1.54	0.23209	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.628214	0.17016	N	0.190285	T	0.49779	0.1577	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27502	-1.0072	10	0.11485	T	0.65	.	3.6952	0.08361	0.3916:0.3284:0.0:0.28	.	794	Q6PGP7	TTC37_HUMAN	S	794	ENSP00000351596:A794S	ENSP00000351596:A794S	A	-	1	0	TTC37	94878432	0.589000	0.26807	0.879000	0.34478	0.943000	0.58893	0.055000	0.14229	0.059000	0.16252	0.460000	0.39030	GCA	TTC37	-	pfscan_TPR-contain_dom	ENSG00000198677		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1	145	0.00	0	C	NM_014639		94852676	94852676	-1	no_errors	ENST00000358746	ensembl	human	known	69_37n	missense	111	16.54	22	SNP	0.002	A
TTC39B	158219	genome.wustl.edu	37	9	15211308	15211308	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:15211308C>A	ENST00000512701.2	-	5	606	c.570G>T	c.(568-570)caG>caT	p.Q190H	TTC39B_ENST00000507285.1_Missense_Mutation_p.Q25H|TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000297615.5_Missense_Mutation_p.Q121H|TTC39B_ENST00000507993.1_Missense_Mutation_p.Q25H|TTC39B_ENST00000380850.4_Missense_Mutation_p.Q190H|TTC39B_ENST00000541445.1_Missense_Mutation_p.Q124H|TTC39B_ENST00000355694.2_Missense_Mutation_p.Q124H			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	190										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAATGCCGTTCTGGATGTCCT	0.468																																						dbGAP											0													155.0	138.0	144.0					9																	15211308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.570G>T	9.37:g.15211308C>A	ENSP00000422496:p.Gln190His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.Q190H	ENST00000512701.2	37	c.570	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659119	0.47467	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993;ENST00000541445	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.78	-11.4	0.00090	.	0.125696	0.56097	D	0.000040	T	0.58552	0.2130	M	0.75264	2.295	0.29503	N	0.854769	D;D;D;P;P	0.71674	0.994;0.995;0.998;0.489;0.489	D;D;D;P;P	0.71184	0.916;0.95;0.972;0.474;0.474	T	0.76666	-0.2875	10	0.52906	T	0.07	-15.8406	24.4574	0.99990	0.0:0.7624:0.0:0.2376	.	121;190;190;124;124	F5H705;E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;.;TT39B_HUMAN	H	190;121;124;190;25;25;124	ENSP00000370231:Q190H;ENSP00000297615:Q121H;ENSP00000347920:Q124H;ENSP00000422496:Q190H;ENSP00000426539:Q25H;ENSP00000423392:Q25H;ENSP00000442880:Q124H	ENSP00000297615:Q121H	Q	-	3	2	TTC39B	15201308	0.002000	0.14202	0.073000	0.20177	0.709000	0.40893	-1.641000	0.02007	-2.358000	0.00611	-0.956000	0.02647	CAG	TTC39B	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000155158		0.468	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	143	0.00	0	C	NM_152574		15211308	15211308	-1	no_errors	ENST00000512701	ensembl	human	known	69_37n	missense	118	16.31	23	SNP	0.041	A
TTC39C	125488	genome.wustl.edu	37	18	21662876	21662876	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:21662876G>T	ENST00000317571.3	+	6	1051		c.e6-1		TTC39C_ENST00000304621.6_Splice_Site|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C									p.?(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCTTCCTCTAGATTAGCTCTG	0.423																																						dbGAP											1	Unknown(1)	breast(1)											177.0	167.0	170.0					18																	21662876		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.816-1G>T	18.37:g.21662876G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Splice_Site	SNP	-	e6-1	ENST00000317571.3	37	c.816-1	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385141	0.61956	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8375	0.96663	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC39C	19916874	1.000000	0.71417	0.109000	0.21407	0.630000	0.37929	7.588000	0.82629	2.685000	0.91497	0.563000	0.77884	.	TTC39C	-	-	ENSG00000168234		0.423	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	241	0.00	0	G	NM_153211	Intron	21662876	21662876	+1	no_errors	ENST00000317571	ensembl	human	known	69_37n	splice_site	162	22.86	48	SNP	0.997	T
TTF1	7270	genome.wustl.edu	37	9	135254547	135254547	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135254547G>T	ENST00000334270.2	-	10	2418				TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I						chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GAAAAGGAAAGAAAAGATAAA	0.299																																						dbGAP											0													44.0	48.0	47.0					9																	135254547		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2379-16C>A	9.37:g.135254547G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L160|Q4VXF3|Q58EY2|Q6P5T5	RNA	SNP	-	NULL	ENST00000334270.2	37	NULL	CCDS6948.1	9																																																																																			TTF1	-	-	ENSG00000125482		0.299	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	186	0.00	0	G	NM_007344		135254547	135254547	-1	no_errors	ENST00000461970	ensembl	human	known	69_37n	rna	124	26.19	44	SNP	0.000	T
TTF1	7270	genome.wustl.edu	37	9	135276918	135276918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:135276918C>A	ENST00000334270.2	-	2	1330	c.1291G>T	c.(1291-1293)Gaa>Taa	p.E431*		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	431					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTCACACCTTCTTCCATCATG	0.507																																						dbGAP											0													157.0	145.0	149.0					9																	135276918		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1291G>T	9.37:g.135276918C>A	ENSP00000333920:p.Glu431*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E431*	ENST00000334270.2	37	c.1291	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037144	0.93630	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	.	.	.	5.47	3.61	0.41365	.	0.933194	0.08880	N	0.880146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.8846	0.24193	0.0:0.7296:0.1781:0.0923	.	.	.	.	X	431	.	ENSP00000245588:E431X	E	-	1	0	TTF1	134266739	0.004000	0.15560	0.009000	0.14445	0.002000	0.02628	0.307000	0.19296	1.290000	0.44636	0.655000	0.94253	GAA	TTF1	-	NULL	ENSG00000125482		0.507	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	220	0.00	0	C	NM_007344		135276918	135276918	-1	no_errors	ENST00000334270	ensembl	human	known	69_37n	nonsense	214	10.83	26	SNP	0.008	A
TTI1	9675	genome.wustl.edu	37	20	36634674	36634674	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:36634674C>T	ENST00000373448.2	-	4	2666	c.2428G>A	c.(2428-2430)Gaa>Aaa	p.E810K	TTI1_ENST00000449821.1_Missense_Mutation_p.E810K|TTI1_ENST00000373447.3_Missense_Mutation_p.E810K	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	810					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAAAACTGTTCGATGTCTTCA	0.433																																						dbGAP											0													261.0	238.0	246.0					20																	36634674		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2428G>A	20.37:g.36634674C>T	ENSP00000362547:p.Glu810Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.E810K	ENST00000373448.2	37	c.2428	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502153	0.44455	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.64991	-0.13;-0.13;-0.13	5.32	5.32	0.75619	Armadillo-type fold (1);	0.107764	0.64402	D	0.000005	T	0.59622	0.2207	M	0.68317	2.08	0.34263	D	0.680072	D	0.54207	0.965	B	0.42827	0.399	T	0.67051	-0.5768	10	0.16420	T	0.52	-12.28	14.3872	0.66953	0.0:1.0:0.0:0.0	.	810	O43156	TTI1_HUMAN	K	810	ENSP00000362547:E810K;ENSP00000362546:E810K;ENSP00000407270:E810K	ENSP00000362546:E810K	E	-	1	0	TTI1	36068088	0.880000	0.30214	0.079000	0.20413	0.816000	0.46133	1.541000	0.36126	2.767000	0.95098	0.557000	0.71058	GAA	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.433	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	447	0.00	0	C	NM_014657		36634674	36634674	-1	no_errors	ENST00000373447	ensembl	human	known	69_37n	missense	298	26.72	109	SNP	0.700	T
TTI1	9675	genome.wustl.edu	37	20	36634718	36634718	+	Missense_Mutation	SNP	C	C	A	rs577513143		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:36634718C>A	ENST00000373448.2	-	4	2622	c.2384G>T	c.(2383-2385)aGa>aTa	p.R795I	TTI1_ENST00000449821.1_Missense_Mutation_p.R795I|TTI1_ENST00000373447.3_Missense_Mutation_p.R795I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	795					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCTGCTGGTCTTTGGTTCAA	0.463																																						dbGAP											0													239.0	212.0	221.0					20																	36634718		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2384G>T	20.37:g.36634718C>A	ENSP00000362547:p.Arg795Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.R795I	ENST00000373448.2	37	c.2384	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315988	0.23908	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.69685	-0.42;-0.42;-0.42	5.1	2.09	0.27110	Armadillo-type fold (1);	0.794249	0.12324	N	0.478962	T	0.49064	0.1535	L	0.33485	1.01	0.19300	N	0.999974	B	0.14438	0.01	B	0.15484	0.013	T	0.33675	-0.9859	10	0.33141	T	0.24	-0.1382	3.0017	0.06016	0.1492:0.4852:0.2622:0.1034	.	795	O43156	TTI1_HUMAN	I	795	ENSP00000362547:R795I;ENSP00000362546:R795I;ENSP00000407270:R795I	ENSP00000362546:R795I	R	-	2	0	TTI1	36068132	0.000000	0.05858	0.007000	0.13788	0.113000	0.19764	-0.240000	0.08952	0.313000	0.23062	-0.259000	0.10710	AGA	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	403	0.00	0	C	NM_014657		36634718	36634718	-1	no_errors	ENST00000373447	ensembl	human	known	69_37n	missense	310	14.13	51	SNP	0.016	A
TTLL1	25809	genome.wustl.edu	37	22	43465789	43465789	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:43465789C>A	ENST00000266254.7	-	4	415	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	TTLL1_ENST00000331018.7_Missense_Mutation_p.D59Y	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	59	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACTATTTGGTCATCTGAGAGC	0.463																																						dbGAP											0													165.0	155.0	159.0					22																	43465789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.175G>T	22.37:g.43465789C>A	ENSP00000266254:p.Asp59Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D59Y	ENST00000266254.7	37	c.175	CCDS14043.1	22	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443559	0.43429	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05580	3.42;3.42	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.04655	-0.195	0.80722	D	1	B;B	0.28208	0.199;0.203	B;B	0.34346	0.18;0.087	T	0.30327	-0.9982	10	0.02654	T	1	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	59;59	O95922-4;O95922	.;TTLL1_HUMAN	Y	59	ENSP00000333734:D59Y;ENSP00000266254:D59Y	ENSP00000266254:D59Y	D	-	1	0	TTLL1	41795733	1.000000	0.71417	0.369000	0.25952	0.533000	0.34776	7.480000	0.81109	2.788000	0.95919	0.557000	0.71058	GAC	TTLL1	-	pfam_Tub_tyr_ligase	ENSG00000100271		0.463	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1	281	0.00	0	C	NM_012263		43465789	43465789	-1	no_errors	ENST00000266254	ensembl	human	known	69_37n	missense	176	23.14	53	SNP	1.000	A
TTLL2	83887	genome.wustl.edu	37	6	167754538	167754538	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:167754538C>A	ENST00000239587.5	+	3	1238	c.1150C>A	c.(1150-1152)Ctt>Att	p.L384I		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	384	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GAAACCATGGCTTTTAGAGGT	0.418																																						dbGAP											0													163.0	170.0	168.0					6																	167754538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1150C>A	6.37:g.167754538C>A	ENSP00000239587:p.Leu384Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.L384I	ENST00000239587.5	37	c.1150	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289131	0.40494	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.17691	2.26	3.75	2.86	0.33363	ATP-grasp fold, subdomain 2 (1);	0.000000	0.56097	D	0.000026	T	0.30854	0.0778	M	0.82630	2.6	0.37723	D	0.924974	D	0.89917	1.0	D	0.97110	1.0	T	0.18335	-1.0340	10	0.45353	T	0.12	.	12.1129	0.53850	0.0:0.8247:0.1753:0.0	.	384	Q9BWV7	TTLL2_HUMAN	I	384;311	ENSP00000239587:L384I	ENSP00000239587:L384I	L	+	1	0	TTLL2	167674528	1.000000	0.71417	0.600000	0.28864	0.247000	0.25773	5.686000	0.68211	0.877000	0.35895	0.491000	0.48974	CTT	TTLL2	-	pfam_Tub_tyr_ligase	ENSG00000120440		0.418	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	143	0.00	0	C	NM_031949		167754538	167754538	+1	no_errors	ENST00000239587	ensembl	human	known	69_37n	missense	205	12.02	28	SNP	0.998	A
TTLL3	26140	genome.wustl.edu	37	3	9854975	9854975	+	Silent	SNP	C	C	T	rs542749408	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:9854975C>T	ENST00000547186.1	+	4	477	c.261C>T	c.(259-261)ttC>ttT	p.F87F	ARPC4-TTLL3_ENST00000397256.1_Silent_p.F181F|TTLL3_ENST00000427853.3_5'Flank|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Silent_p.F230F	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	87					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACAGCTGTTCGACTTCGATG	0.512													c|||	2	0.000399361	0.0	0.0	5008	,	,		22986	0.0		0.001	False		,,,				2504	0.001					dbGAP											0													132.0	129.0	130.0					3																	9854975		2039	4200	6239	-	-	-	SO:0001819	synonymous_variant	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.261C>T	3.37:g.9854975C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Nonsense_Mutation	SNP	NULL	p.R85*	ENST00000547186.1	37	c.253		3																																																																																			TTLL3	-	NULL	ENSG00000214021		0.512	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		117	0.00	0	C	NM_001025930.2		9854975	9854975	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430390	ensembl	human	known	69_37n	nonsense	84	13.27	13	SNP	0.000	T
TTLL3	26140	genome.wustl.edu	37	3	9854981	9854981	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:9854981C>T	ENST00000547186.1	+	4	483	c.267C>T	c.(265-267)ttC>ttT	p.F89F	ARPC4-TTLL3_ENST00000397256.1_Silent_p.F183F|TTLL3_ENST00000427853.3_5'UTR|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Silent_p.F232F	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	89					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGTTCGACTTCGATGATTTAC	0.527																																						dbGAP											0													134.0	130.0	132.0					3																	9854981		2038	4190	6228	-	-	-	SO:0001819	synonymous_variant	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.267C>T	3.37:g.9854981C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Nonsense_Mutation	SNP	NULL	p.R87*	ENST00000547186.1	37	c.259		3	.	.	.	.	.	.	.	.	.	.	C	3.248	-0.153826	0.06585	.	.	ENSG00000214021	ENST00000310252	.	.	.	4.33	-4.12	0.03916	.	.	.	.	.	.	.	.	.	.	.	0.24045	N	0.996065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9698	0.03403	0.1085:0.3125:0.2809:0.2982	.	.	.	.	X	2	.	.	R	+	1	2	TTLL3	9829981	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-4.607000	0.00209	-1.318000	0.02289	-2.479000	0.00199	CGA	TTLL3	-	NULL	ENSG00000214021		0.527	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		118	0.00	0	C	NM_001025930.2		9854981	9854981	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430390	ensembl	human	known	69_37n	nonsense	88	16.19	17	SNP	0.002	T
TTLL5	23093	genome.wustl.edu	37	14	76198513	76198513	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:76198513C>A	ENST00000298832.9	+	13	1247				TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Intron	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGATTAATTTCTCTTGAACTT	0.353																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1043-168C>A	14.37:g.76198513C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	RNA	SNP	-	NULL	ENST00000298832.9	37	NULL	CCDS32124.1	14																																																																																			TTLL5	-	-	ENSG00000119685		0.353	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	118	0.00	0	C	NM_015072		76198513	76198513	+1	no_errors	ENST00000555422	ensembl	human	known	69_37n	rna	66	16.46	13	SNP	0.020	A
TTLL5	23093	genome.wustl.edu	37	14	76245960	76245960	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:76245960G>T	ENST00000298832.9	+	24	2635	c.2430G>T	c.(2428-2430)aaG>aaT	p.K810N	TTLL5_ENST00000554510.1_Missense_Mutation_p.K319N|TTLL5_ENST00000556893.1_Missense_Mutation_p.K361N|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.K824N	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	810					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATACCCAAAAGAACAAGTCTG	0.403																																						dbGAP											0													107.0	105.0	106.0					14																	76245960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2430G>T	14.37:g.76245960G>T	ENSP00000298832:p.Lys810Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.K810N	ENST00000298832.9	37	c.2430	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046082	0.55110	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.28069	3.82;3.89;1.69;1.63	4.75	2.42	0.29668	.	0.119697	0.56097	N	0.000031	T	0.37046	0.0989	L	0.29908	0.895	0.38081	D	0.936674	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.994	T	0.25984	-1.0116	10	0.54805	T	0.06	.	6.7629	0.23550	0.7247:0.0:0.2753:0.0	.	824;361;810	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	N	497;824;810;361;361;319	ENSP00000450713:K824N;ENSP00000298832:K810N;ENSP00000452524:K361N;ENSP00000451946:K319N	ENSP00000298832:K810N	K	+	3	2	TTLL5	75315713	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.748000	0.38308	0.786000	0.33708	-0.469000	0.05056	AAG	TTLL5	-	NULL	ENSG00000119685		0.403	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	468	0.00	0	G	NM_015072		76245960	76245960	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	missense	409	10.50	48	SNP	1.000	T
TTLL7	79739	genome.wustl.edu	37	1	84369810	84369810	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:84369810T>G	ENST00000260505.8	-	18	2537	c.2160A>C	c.(2158-2160)aaA>aaC	p.K720N	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	720					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGAAGCCACTTTGGTTTTAT	0.308																																						dbGAP											0													173.0	170.0	171.0					1																	84369810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2160A>C	1.37:g.84369810T>G	ENSP00000260505:p.Lys720Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.K720N	ENST00000260505.8	37	c.2160	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158151	0.78114	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	T	0.04970	3.52	5.0	2.65	0.31530	.	0.182282	0.46758	D	0.000271	T	0.09555	0.0235	M	0.64997	1.995	0.45035	D	0.99805	D	0.69078	0.997	D	0.63703	0.917	T	0.01894	-1.1252	10	0.87932	D	0	.	8.9652	0.35872	0.0:0.1576:0.0:0.8424	.	720	Q6ZT98	TTLL7_HUMAN	N	720;497	ENSP00000260505:K720N	ENSP00000260505:K720N	K	-	3	2	TTLL7	84142398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.123000	0.31308	0.754000	0.32968	0.528000	0.53228	AAA	TTLL7	-	NULL	ENSG00000137941		0.308	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	458	0.00	0	T	NM_024686		84369810	84369810	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	270	14.01	44	SNP	1.000	G
TTLL7	79739	genome.wustl.edu	37	1	84372071	84372071	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:84372071C>A	ENST00000260505.8	-	17	2445	c.2068G>T	c.(2068-2070)Gac>Tac	p.D690Y	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	690					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATCTTCATGTCTTTGAGAACA	0.373																																						dbGAP											0													167.0	168.0	168.0					1																	84372071		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2068G>T	1.37:g.84372071C>A	ENSP00000260505:p.Asp690Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.D690Y	ENST00000260505.8	37	c.2068	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944327	0.73672	.	.	ENSG00000137941	ENST00000260505;ENST00000370704	T	0.04119	3.7	5.76	4.84	0.62591	.	7.402230	0.06385	U	0.715917	T	0.09335	0.0230	L	0.53249	1.67	0.42169	D	0.991637	D	0.57899	0.981	P	0.56398	0.797	T	0.01583	-1.1319	10	0.87932	D	0	.	15.6604	0.77182	0.0:0.8619:0.1381:0.0	.	690	Q6ZT98	TTLL7_HUMAN	Y	690;467	ENSP00000260505:D690Y	ENSP00000260505:D690Y	D	-	1	0	TTLL7	84144659	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.731000	0.74785	1.415000	0.47037	-0.291000	0.09656	GAC	TTLL7	-	NULL	ENSG00000137941		0.373	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	836	0.00	0	C	NM_024686		84372071	84372071	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	355	32.38	170	SNP	0.999	A
TTLL7	79739	genome.wustl.edu	37	1	84412924	84412924	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:84412924C>T	ENST00000260505.8	-	6	766	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	130	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GATCCAAGTTCGAGGAACAAA	0.313																																						dbGAP											0													83.0	84.0	84.0					1																	84412924		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.389G>A	1.37:g.84412924C>T	ENSP00000260505:p.Arg130Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R130Q	ENST00000260505.8	37	c.389	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042547	0.55003	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.06294	3.32	5.57	3.71	0.42584	.	0.378182	0.27917	N	0.017327	T	0.01730	0.0055	N	0.26162	0.8	0.42561	D	0.993149	P	0.41546	0.754	B	0.34489	0.184	T	0.59337	-0.7473	10	0.32370	T	0.25	.	12.2048	0.54346	0.0:0.8612:0.0:0.1388	.	130	Q6ZT98	TTLL7_HUMAN	Q	130	ENSP00000260505:R130Q	ENSP00000260505:R130Q	R	-	2	0	TTLL7	84185512	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.731000	0.55013	0.723000	0.32274	-0.157000	0.13467	CGA	TTLL7	-	pfam_Tub_tyr_ligase	ENSG00000137941		0.313	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	624	0.00	0	C	NM_024686		84412924	84412924	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	200	47.24	180	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179393747	179393747	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179393747C>T	ENST00000591111.1	-	310	102032	c.101808G>A	c.(101806-101808)aaG>aaA	p.K33936K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.K26637K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Silent_p.K26512K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000589042.1_Silent_p.K35577K|TTN_ENST00000342175.6_Silent_p.K26704K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Silent_p.K33009K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33936					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTGATTTCTTGACTTCTT	0.403																																						dbGAP											0													115.0	106.0	109.0					2																	179393747		1848	4088	5936	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101808G>A	2.37:g.179393747C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K33009	ENST00000591111.1	37	c.99027		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	301	0.00	0	C	NM_133378		179393747	179393747	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	142	24.47	46	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179394814	179394814	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179394814G>T	ENST00000591111.1	-	309	101705	c.101481C>A	c.(101479-101481)ctC>ctA	p.L33827L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.L26528L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Silent_p.L26403L|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000589042.1_Silent_p.L35468L|TTN_ENST00000342175.6_Silent_p.L26595L|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Silent_p.L32900L|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33827	Ig-like 149.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCTTCAGAGAGTTTATATT	0.333																																						dbGAP											0													87.0	85.0	86.0					2																	179394814		1806	4079	5885	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101481C>A	2.37:g.179394814G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L32900	ENST00000591111.1	37	c.98700		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	371	0.00	0	G	NM_133378		179394814	179394814	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	197	11.66	26	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179406267	179406267	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179406267G>A	ENST00000591111.1	-	300	92838	c.92614C>T	c.(92614-92616)Cgt>Tgt	p.R30872C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23573C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23448C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32513C|TTN_ENST00000342175.6_Missense_Mutation_p.R23640C|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29945C|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30872	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCCATCACGGGAAACATCA	0.453																																						dbGAP											0													86.0	79.0	82.0					2																	179406267		1930	4125	6055	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92614C>T	2.37:g.179406267G>A	ENSP00000465570:p.Arg30872Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R29945C	ENST00000591111.1	37	c.89833		2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756104	0.89843	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71151	0.3306	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69307	0.963;0.963;0.963;0.963	T	0.73116	-0.4084	9	0.87932	D	0	.	19.5319	0.95232	0.0:0.0:1.0:0.0	.	23448;23573;23640;30872	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	29945;23448;23640;23573;23445	ENSP00000343764:R29945C;ENSP00000434586:R23448C;ENSP00000340554:R23640C;ENSP00000352154:R23573C	ENSP00000340554:R23640C	R	-	1	0	TTN	179114513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.986000	0.88173	2.616000	0.88540	0.561000	0.74099	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	216	0.00	0	G	NM_133378		179406267	179406267	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	119	20.53	31	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179414585	179414585	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179414585T>G	ENST00000591111.1	-	288	87165	c.86941A>C	c.(86941-86943)Aaa>Caa	p.K28981Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K21682Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K21557Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K30622Q|TTN_ENST00000342175.6_Missense_Mutation_p.K21749Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28054Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28981	Fibronectin type-III 111. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAACTACTTTTCCTGGTGTA	0.393																																						dbGAP											0													100.0	95.0	96.0					2																	179414585		1824	4088	5912	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86941A>C	2.37:g.179414585T>G	ENSP00000465570:p.Lys28981Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K28054Q	ENST00000591111.1	37	c.84160		2	.	.	.	.	.	.	.	.	.	.	T	16.32	3.090179	0.55968	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.48	4.32	0.51571	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43500	0.1250	L	0.58510	1.815	0.31157	N	0.704846	B;B;B;B	0.16166	0.016;0.016;0.016;0.007	B;B;B;B	0.18263	0.021;0.021;0.021;0.021	T	0.50651	-0.8803	9	0.87932	D	0	.	7.5754	0.27933	0.0:0.0714:0.1412:0.7874	.	21557;21682;21749;28981	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	28054;21557;21749;21682;21554	ENSP00000343764:K28054Q;ENSP00000434586:K21557Q;ENSP00000340554:K21749Q;ENSP00000352154:K21682Q	ENSP00000340554:K21749Q	K	-	1	0	TTN	179122831	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.441000	0.59981	1.019000	0.39547	0.460000	0.39030	AAA	TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	170	0.00	0	T	NM_133378		179414585	179414585	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	85	15.00	15	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179425491	179425491	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179425491T>A	ENST00000591111.1	-	276	80669	c.80445A>T	c.(80443-80445)ggA>ggT	p.G26815G	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G19516G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.G19391G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.G28456G|TTN_ENST00000342175.6_Silent_p.G19583G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G25888G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26815	Fibronectin type-III 95. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAAGTGGTCCTGCTGGTG	0.478																																						dbGAP											0													60.0	56.0	57.0					2																	179425491		1935	4147	6082	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80445A>T	2.37:g.179425491T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G25888	ENST00000591111.1	37	c.77664		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	52	0.00	0	T	NM_133378		179425491	179425491	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	34	12.82	5	SNP	0.990	A
TTN	7273	genome.wustl.edu	37	2	179435051	179435051	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179435051G>T	ENST00000591111.1	-	276	71109	c.70885C>A	c.(70885-70887)Ctt>Att	p.L23629I	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16330I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L16205I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L25270I|TTN_ENST00000342175.6_Missense_Mutation_p.L16397I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22702I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23629	Fibronectin type-III 71. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCCTTCAAGAAGCTTAGTA	0.408																																						dbGAP											0													65.0	61.0	62.0					2																	179435051		1925	4139	6064	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70885C>A	2.37:g.179435051G>T	ENSP00000465570:p.Leu23629Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L22702I	ENST00000591111.1	37	c.68104		2	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734738	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.87	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33030	0.0849	N	0.12887	0.27	0.51767	D	0.999934	B;B;B;B	0.29162	0.235;0.235;0.235;0.142	B;B;B;B	0.29524	0.103;0.103;0.103;0.072	T	0.24404	-1.0161	9	0.87932	D	0	.	7.1834	0.25786	0.1363:0.0:0.7216:0.1421	.	16205;16330;16397;23629	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	22702;16205;16397;16330;16203	ENSP00000343764:L22702I;ENSP00000434586:L16205I;ENSP00000340554:L16397I;ENSP00000352154:L16330I	ENSP00000340554:L16397I	L	-	1	0	TTN	179143297	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	3.035000	0.49759	1.454000	0.47793	0.650000	0.86243	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	111	0.00	0	G	NM_133378		179435051	179435051	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179442351	179442351	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179442351G>T	ENST00000591111.1	-	273	64103	c.63879C>A	c.(63877-63879)acC>acA	p.T21293T	TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T13994T|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Silent_p.T13869T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.T22934T|TTN_ENST00000342175.6_Silent_p.T14061T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.T20366T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21293	Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAAATAATGGTTTCTGTAC	0.333																																						dbGAP											0													123.0	106.0	111.0					2																	179442351		1861	4101	5962	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63879C>A	2.37:g.179442351G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T20366	ENST00000591111.1	37	c.61098		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	204	0.00	0	G	NM_133378		179442351	179442351	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	140	19.54	34	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179443561	179443561	+	Silent	SNP	C	C	T	rs397517674		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179443561C>T	ENST00000591111.1	-	270	63497	c.63273G>A	c.(63271-63273)tcG>tcA	p.S21091S	TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.S13792S|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Silent_p.S13667S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.S22732S|TTN_ENST00000342175.6_Silent_p.S13859S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S20164S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21091	Fibronectin type-III 52. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATTGGCTCCGATTTCAGGC	0.413																																						dbGAP											0													92.0	89.0	90.0					2																	179443561		1897	4112	6009	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63273G>A	2.37:g.179443561C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S20164	ENST00000591111.1	37	c.60492		2																																																																																			TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	84	0.00	0	C	NM_133378		179443561	179443561	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	62	11.43	8	SNP	0.206	T
TTN	7273	genome.wustl.edu	37	2	179445322	179445322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179445322C>A	ENST00000591111.1	-	267	62085	c.61861G>T	c.(61861-61863)Gaa>Taa	p.E20621*	TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E13322*|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E13197*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E22262*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E13389*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E19694*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20621					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCAAGTTCTCCCTCAGGT	0.388																																						dbGAP											0													54.0	47.0	49.0					2																	179445322		1836	4075	5911	-	-	-	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61861G>T	2.37:g.179445322C>A	ENSP00000465570:p.Glu20621*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E19694*	ENST00000591111.1	37	c.59080		2	.	.	.	.	.	.	.	.	.	.	C	62	62.214150	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.09310	A	1e-37	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0305	0.92955	0.0:1.0:0.0:0.0	.	.	.	.	X	19694;13197;13389;13322;13195	.	ENSP00000340554:E13389X	E	-	1	0	TTN	179153568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.500000	0.84329	0.563000	0.77884	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	113	0.00	0	C	NM_133378		179445322	179445322	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	nonsense	75	14.77	13	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179446918	179446918	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179446918C>A	ENST00000591111.1	-	265	61479	c.61255G>T	c.(61255-61257)Gat>Tat	p.D20419Y	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13120Y|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12995Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D22060Y|TTN_ENST00000342175.6_Missense_Mutation_p.D13187Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D19492Y|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20419	Fibronectin type-III 48. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGAGGATCACAGCGTCCT	0.418																																						dbGAP											0													61.0	60.0	60.0					2																	179446918		1859	4120	5979	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61255G>T	2.37:g.179446918C>A	ENSP00000465570:p.Asp20419Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D19492Y	ENST00000591111.1	37	c.58474		2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759858	0.49468	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.68	5.68	0.88126	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73768	0.3629	M	0.84511	2.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72982	0.979;0.979;0.979;0.979	T	0.77395	-0.2604	9	0.87932	D	0	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	12995;13120;13187;20419	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	19492;12995;13187;13120;12993	ENSP00000343764:D19492Y;ENSP00000434586:D12995Y;ENSP00000340554:D13187Y;ENSP00000352154:D13120Y	ENSP00000340554:D13187Y	D	-	1	0	TTN	179155164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.689000	0.91719	0.655000	0.94253	GAT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	90	0.00	0	C	NM_133378		179446918	179446918	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	44	31.25	20	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179455705	179455705	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179455705C>A	ENST00000591111.1	-	254	56048	c.55824G>T	c.(55822-55824)gaG>gaT	p.E18608D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11309D|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11184D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E20249D|TTN_ENST00000342175.6_Missense_Mutation_p.E11376D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17681D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18608	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCTTATTCTCTGCTCTAA	0.468																																						dbGAP											0													212.0	210.0	211.0					2																	179455705		1913	4130	6043	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55824G>T	2.37:g.179455705C>A	ENSP00000465570:p.Glu18608Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E17681D	ENST00000591111.1	37	c.53043		2	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219047	0.22373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.11	5.23	0.72850	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73071	0.3540	M	0.91038	3.17	0.47094	D	0.999316	D;D;D;D	0.67145	0.992;0.992;0.992;0.996	P;P;P;P	0.62649	0.837;0.837;0.837;0.905	T	0.77582	-0.2534	9	0.87932	D	0	.	8.8353	0.35109	0.0:0.8013:0.0:0.1987	.	11184;11309;11376;18608	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	17681;11184;11376;11309;11182	ENSP00000343764:E17681D;ENSP00000434586:E11184D;ENSP00000340554:E11376D;ENSP00000352154:E11309D	ENSP00000340554:E11376D	E	-	3	2	TTN	179163951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.029000	0.41098	2.906000	0.99361	0.655000	0.94253	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	79	0.00	0	C	NM_133378		179455705	179455705	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	53	14.52	9	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179458301	179458301	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179458301G>A	ENST00000591111.1	-	248	54027	c.53803C>T	c.(53803-53805)Cgt>Tgt	p.R17935C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R10636C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R10511C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R19576C|TTN_ENST00000342175.6_Missense_Mutation_p.R10703C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17008C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17935	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTGAAACGATCTTTGGCT	0.308																																						dbGAP											0													62.0	55.0	57.0					2																	179458301		1843	4087	5930	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53803C>T	2.37:g.179458301G>A	ENSP00000465570:p.Arg17935Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R17008C	ENST00000591111.1	37	c.51022		2	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274861	0.23307	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64260	-0.09;0.17;0.15;0.14	6.02	6.02	0.97574	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67720	0.2923	L	0.33485	1.01	0.49299	D	0.999773	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;P;P;P	0.54706	0.759;0.759;0.759;0.759	T	0.69351	-0.5168	9	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	10511;10636;10703;17935	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	17008;10511;10703;10636;10509	ENSP00000343764:R17008C;ENSP00000434586:R10511C;ENSP00000340554:R10703C;ENSP00000352154:R10636C	ENSP00000340554:R10703C	R	-	1	0	TTN	179166547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.558000	0.53749	2.857000	0.98124	0.650000	0.86243	CGT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.308	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	106	0.00	0	G	NM_133378		179458301	179458301	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	80	13.98	13	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179466070	179466070	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179466070G>A	ENST00000591111.1	-	237	50955	c.50731C>T	c.(50731-50733)Cgt>Tgt	p.R16911C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9612C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9487C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18552C|TTN_ENST00000342175.6_Missense_Mutation_p.R9679C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15984C|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16911	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCGCACACGGAAGAAATAT	0.448																																						dbGAP											0													105.0	100.0	102.0					2																	179466070		1907	4119	6026	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50731C>T	2.37:g.179466070G>A	ENSP00000465570:p.Arg16911Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R15984C	ENST00000591111.1	37	c.47950		2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739668	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.85	4.97	0.65823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81583	0.4853	M	0.93328	3.405	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	D	0.86494	0.1799	9	0.87932	D	0	.	14.172	0.65514	0.0:0.0:0.7285:0.2715	.	9487;9612;9679;16911	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15984;9487;9679;9612;9487	ENSP00000343764:R15984C;ENSP00000434586:R9487C;ENSP00000340554:R9679C;ENSP00000352154:R9612C	ENSP00000340554:R9679C	R	-	1	0	TTN	179174315	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.451000	0.60047	1.453000	0.47775	0.563000	0.77884	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	393	0.00	0	G	NM_133378		179466070	179466070	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	201	25.28	68	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179477578	179477578	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179477578G>T	ENST00000591111.1	-	215	45171	c.44947C>A	c.(44947-44949)Cga>Aga	p.R14983R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.R7684R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.R7559R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.R16624R|TTN_ENST00000342175.6_Silent_p.R7751R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R14056R			Q8WZ42	TITIN_HUMAN	titin	14983	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTAACTCGGAATGAGTAT	0.537																																						dbGAP											0													51.0	48.0	49.0					2																	179477578		1932	4156	6088	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44947C>A	2.37:g.179477578G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R14056	ENST00000591111.1	37	c.42166		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.537	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	125	0.00	0	G	NM_133378		179477578	179477578	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	60	20.00	15	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179480434	179480434	+	Missense_Mutation	SNP	G	G	A	rs2303830	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179480434G>A	ENST00000591111.1	-	208	43695	c.43471C>T	c.(43471-43473)Cgt>Tgt	p.R14491C	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7192C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7067C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16132C|TTN_ENST00000342175.6_Missense_Mutation_p.R7259C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13564C|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14491	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTGTTACGAGCACAAACT	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		20955	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													181.0	170.0	174.0					2																	179480434		1889	4114	6003	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43471C>T	2.37:g.179480434G>A	ENSP00000465570:p.Arg14491Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R13564C	ENST00000591111.1	37	c.40690		2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.55	1.380973	0.24944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.76	0.976	0.19727	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31918	0.0812	N	0.03304	-0.355	0.38961	D	0.958555	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.08848	-1.0702	9	0.87932	D	0	.	9.6776	0.40050	0.5871:0.0:0.4129:0.0	.	7067;7192;7259;14491	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	13564;7067;7259;7192;7067	ENSP00000343764:R13564C;ENSP00000434586:R7067C;ENSP00000340554:R7259C;ENSP00000352154:R7192C	ENSP00000340554:R7259C	R	-	1	0	TTN	179188679	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	1.217000	0.32455	-0.094000	0.12374	0.655000	0.94253	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	262	0.00	0	G	NM_133378		179480434	179480434	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	181	21.98	51	SNP	0.991	A
TTN	7273	genome.wustl.edu	37	2	179485078	179485078	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179485078C>T	ENST00000591111.1	-	198	41471	c.41247G>A	c.(41245-41247)ccG>ccA	p.P13749P	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.P6450P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.P6325P|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.P15390P|TTN_ENST00000342175.6_Silent_p.P6517P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P12822P			Q8WZ42	TITIN_HUMAN	titin	13749	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATTCTGTCGGGGCTTCTA	0.448																																						dbGAP											0													134.0	132.0	132.0					2																	179485078		1857	4098	5955	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41247G>A	2.37:g.179485078C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P12822	ENST00000591111.1	37	c.38466		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	191	0.00	0	C	NM_133378		179485078	179485078	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	97	15.65	18	SNP	0.761	T
TTN	7273	genome.wustl.edu	37	2	179485343	179485343	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179485343A>C	ENST00000591111.1	-	198	41206	c.40982T>G	c.(40981-40983)cTt>cGt	p.L13661R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L6362R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L6237R|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L15302R|TTN_ENST00000342175.6_Missense_Mutation_p.L6429R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L12734R			Q8WZ42	TITIN_HUMAN	titin	13661	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAATCCTAAGGTCTTCCTC	0.328																																						dbGAP											0													70.0	63.0	65.0					2																	179485343		1826	4075	5901	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40982T>G	2.37:g.179485343A>C	ENSP00000465570:p.Leu13661Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L12734R	ENST00000591111.1	37	c.38201		2	.	.	.	.	.	.	.	.	.	.	A	13.51	2.257720	0.39896	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;0.03;0.01;-0.01	5.83	5.83	0.93111	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81861	0.4912	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84042	0.0365	9	0.87932	D	0	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	6237;6362;6429;13661	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	12734;6237;6429;6362;6237	ENSP00000343764:L12734R;ENSP00000434586:L6237R;ENSP00000340554:L6429R;ENSP00000352154:L6362R	ENSP00000340554:L6429R	L	-	2	0	TTN	179193588	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.365000	0.79537	2.225000	0.72522	0.533000	0.62120	CTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	168	0.00	0	A	NM_133378		179485343	179485343	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	118	15.11	21	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179494084	179494084	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179494084C>T	ENST00000591111.1	-	190	39669	c.39445G>A	c.(39445-39447)Gaa>Aaa	p.E13149K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5850K|TTN_ENST00000460472.2_Missense_Mutation_p.E5725K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14790K|TTN_ENST00000342175.6_Missense_Mutation_p.E5917K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12222K			Q8WZ42	TITIN_HUMAN	titin	13149	Ig-like 87.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATATCTTCGTAGGAGAGC	0.493																																						dbGAP											0													129.0	131.0	130.0					2																	179494084		1965	4165	6130	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39445G>A	2.37:g.179494084C>T	ENSP00000465570:p.Glu13149Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12222K	ENST00000591111.1	37	c.36664		2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145396	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79981	0.4540	L	0.50847	1.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.79907	-0.1605	9	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	5725;5850;5917;13149	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12222;5725;5917;5850;5725	ENSP00000343764:E12222K;ENSP00000434586:E5725K;ENSP00000340554:E5917K;ENSP00000352154:E5850K	ENSP00000340554:E5917K	E	-	1	0	TTN	179202329	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	7.770000	0.85390	2.826000	0.97356	0.563000	0.77884	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	412	0.00	0	C	NM_133378		179494084	179494084	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	210	12.08	29	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179494167	179494167	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179494167C>T	ENST00000591111.1	-	190	39586	c.39362G>A	c.(39361-39363)cGa>cAa	p.R13121Q	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5822Q|TTN_ENST00000460472.2_Missense_Mutation_p.R5697Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R14762Q|TTN_ENST00000342175.6_Missense_Mutation_p.R5889Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12194Q			Q8WZ42	TITIN_HUMAN	titin	13121	Ig-like 87.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAATTACTCGTGCTTTTCG	0.438																																						dbGAP											0													91.0	89.0	90.0					2																	179494167		1921	4149	6070	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39362G>A	2.37:g.179494167C>T	ENSP00000465570:p.Arg13121Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R12194Q	ENST00000591111.1	37	c.36581		2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046986	0.75846	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;0.11;0.09;0.08	5.95	5.95	0.96441	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.80121	0.4565	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.80393	-0.1401	9	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	5697;5822;5889;13121	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12194;5697;5889;5822;5697	ENSP00000343764:R12194Q;ENSP00000434586:R5697Q;ENSP00000340554:R5889Q;ENSP00000352154:R5822Q	ENSP00000340554:R5889Q	R	-	2	0	TTN	179202412	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	7.770000	0.85390	2.826000	0.97356	0.563000	0.77884	CGA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	262	0.00	0	C	NM_133378		179494167	179494167	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	127	20.00	32	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179545848	179545848	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179545848T>C	ENST00000591111.1	-	136	32571	c.32347A>G	c.(32347-32349)Acc>Gcc	p.T10783A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T11100A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T9856A			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGTTTGGTAATTGAAATA	0.333																																						dbGAP											0													87.0	84.0	85.0					2																	179545848		1802	4073	5875	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32347A>G	2.37:g.179545848T>C	ENSP00000465570:p.Thr10783Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T9856A	ENST00000591111.1	37	c.29566		2	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327146	0.41197	.	.	ENSG00000155657	ENST00000342992	T	0.73469	-0.75	5.92	5.92	0.95590	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.56441	0.1985	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.56263	-0.8008	9	0.87932	D	0	.	7.0789	0.25219	0.0:0.0771:0.1968:0.7261	.	10783	Q8WZ42	TITIN_HUMAN	A	9856	ENSP00000343764:T9856A	ENSP00000343764:T9856A	T	-	1	0	TTN	179254093	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	1.694000	0.37752	2.277000	0.76020	0.528000	0.53228	ACC	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	285	0.00	0	T	NM_133378		179545848	179545848	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	225	10.00	25	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179557291	179557291	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179557291C>A	ENST00000591111.1	-	118	30884	c.30660G>T	c.(30658-30660)gaG>gaT	p.E10220D	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E10537D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9293D			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTGGTTTCTCAGGTAGCT	0.373																																						dbGAP											0													48.0	45.0	46.0					2																	179557291		1826	4075	5901	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30660G>T	2.37:g.179557291C>A	ENSP00000465570:p.Glu10220Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E9293D	ENST00000591111.1	37	c.27879		2	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999874	0.54147	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T	0.62498	0.02	5.74	4.86	0.63082	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.41743	0.1172	N	0.08118	0	0.80722	D	1	B;B	0.16802	0.004;0.019	B;B	0.18561	0.007;0.022	T	0.36089	-0.9762	9	0.87932	D	0	.	9.8423	0.41006	0.0:0.8335:0.0:0.1665	.	10220;10220	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	D	9293;415;47	ENSP00000343764:E9293D	ENSP00000343764:E9293D	E	-	3	2	TTN	179265536	1.000000	0.71417	0.991000	0.47740	0.908000	0.53690	0.928000	0.28831	1.407000	0.46875	0.655000	0.94253	GAG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	340	0.00	0	C	NM_133378		179557291	179557291	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	221	24.83	73	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179576052	179576052	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179576052G>T	ENST00000591111.1	-	95	27184	c.26960C>A	c.(26959-26961)tCt>tAt	p.S8987Y	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S9304Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8060Y			Q8WZ42	TITIN_HUMAN	titin	13126	Ig-like 73.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATTGTCGAGAAAATGATGG	0.348																																						dbGAP											0													75.0	72.0	73.0					2																	179576052		1834	4080	5914	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26960C>A	2.37:g.179576052G>T	ENSP00000465570:p.Ser8987Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S8060Y	ENST00000591111.1	37	c.24179		2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591333	0.46214	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.55097	0.1899	M	0.78637	2.42	0.80722	D	1	P	0.49253	0.921	P	0.45998	0.5	T	0.62248	-0.6894	9	0.87932	D	0	.	20.0114	0.97452	0.0:0.0:1.0:0.0	.	8987	Q8WZ42	TITIN_HUMAN	Y	8060	ENSP00000343764:S8060Y	ENSP00000343764:S8060Y	S	-	2	0	TTN	179284297	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.175000	0.65021	2.795000	0.96236	0.655000	0.94253	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like	ENSG00000155657		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	126	0.00	0	G	NM_133378		179576052	179576052	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179579722	179579722	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179579722C>T	ENST00000591111.1	-	88	25464	c.25240G>A	c.(25240-25242)Gct>Act	p.A8414T	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A8731T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A7487T			Q8WZ42	TITIN_HUMAN	titin	12585	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGAGAGCGATGGAACCA	0.473																																						dbGAP											0													186.0	182.0	183.0					2																	179579722		2048	4206	6254	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25240G>A	2.37:g.179579722C>T	ENSP00000465570:p.Ala8414Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A7487T	ENST00000591111.1	37	c.22459		2	.	.	.	.	.	.	.	.	.	.	T	10.12	1.262304	0.23051	.	.	ENSG00000155657	ENST00000342992	T	0.37752	1.18	5.91	4.78	0.61160	Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12860	0.0312	N	0.00783	-1.19	0.27150	N	0.961438	B	0.02656	0.0	B	0.04013	0.001	T	0.10683	-1.0619	9	0.87932	D	0	.	6.3225	0.21225	0.0:0.1775:0.1368:0.6857	.	8414	Q8WZ42	TITIN_HUMAN	T	7487	ENSP00000343764:A7487T	ENSP00000343764:A7487T	A	-	1	0	TTN	179287967	1.000000	0.71417	0.945000	0.38365	0.061000	0.15899	1.687000	0.37680	1.073000	0.40885	-0.254000	0.11334	GCT	TTN	-	superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	210	0.00	0	C	NM_133378		179579722	179579722	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	128	26.40	47	SNP	0.417	T
TTN	7273	genome.wustl.edu	37	2	179580465	179580465	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179580465C>A	ENST00000591111.1	-	87	24949	c.24725G>T	c.(24724-24726)aGa>aTa	p.R8242I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R8559I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7315I			Q8WZ42	TITIN_HUMAN	titin	12422	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACAATTCTTGAAGGTTC	0.393																																						dbGAP											0													38.0	36.0	37.0					2																	179580465		1833	4085	5918	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24725G>T	2.37:g.179580465C>A	ENSP00000465570:p.Arg8242Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R7315I	ENST00000591111.1	37	c.21944		2	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497868	0.44455	.	.	ENSG00000155657	ENST00000342992	T	0.64260	-0.09	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54013	0.1832	N	0.25245	0.725	0.80722	D	1	P	0.51653	0.947	P	0.48114	0.567	T	0.58885	-0.7557	9	0.87932	D	0	.	10.9141	0.47126	0.0:0.8539:0.0:0.1461	.	8242	Q8WZ42	TITIN_HUMAN	I	7315	ENSP00000343764:R7315I	ENSP00000343764:R7315I	R	-	2	0	TTN	179288710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.538000	0.36094	2.637000	0.89404	0.655000	0.94253	AGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	133	0.00	0	C	NM_133378		179580465	179580465	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	88	23.48	27	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179580489	179580489	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179580489A>G	ENST00000591111.1	-	87	24925	c.24701T>C	c.(24700-24702)tTc>tCc	p.F8234S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F8551S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F7307S			Q8WZ42	TITIN_HUMAN	titin	12414	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTTAATGAACCTGGGTGG	0.378																																						dbGAP											0													28.0	26.0	27.0					2																	179580489		1824	4081	5905	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24701T>C	2.37:g.179580489A>G	ENSP00000465570:p.Phe8234Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F7307S	ENST00000591111.1	37	c.21920		2	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912978	0.52439	.	.	ENSG00000155657	ENST00000342992	T	0.72942	-0.7	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89739	0.6802	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93357	0.6723	9	0.87932	D	0	.	15.5972	0.76595	1.0:0.0:0.0:0.0	.	8234	Q8WZ42	TITIN_HUMAN	S	7307	ENSP00000343764:F7307S	ENSP00000343764:F7307S	F	-	2	0	TTN	179288734	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.268000	0.95675	2.130000	0.65690	0.533000	0.62120	TTC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	121	0.00	0	A	NM_133378		179580489	179580489	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	75	22.68	22	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179582330	179582330	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179582330T>G	ENST00000591111.1	-	85	24544	c.24320A>C	c.(24319-24321)cAg>cCg	p.Q8107P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q8424P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q7180P			Q8WZ42	TITIN_HUMAN	titin	12298	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q7180R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGTGGCTCTGGTCAGTTTG	0.428																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											75.0	77.0	76.0					2																	179582330		1881	4118	5999	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24320A>C	2.37:g.179582330T>G	ENSP00000465570:p.Gln8107Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q7180P	ENST00000591111.1	37	c.21539		2	.	.	.	.	.	.	.	.	.	.	T	6.606	0.480146	0.12581	.	.	ENSG00000155657	ENST00000342992	T	0.27557	1.66	5.51	4.34	0.51931	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12433	0.0302	N	0.02368	-0.58	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05451	-1.0884	9	0.87932	D	0	.	6.3592	0.21419	0.2642:0.0:0.1197:0.6161	.	8107	Q8WZ42	TITIN_HUMAN	P	7180	ENSP00000343764:Q7180P	ENSP00000343764:Q7180P	Q	-	2	0	TTN	179290575	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.559000	0.45888	0.999000	0.39023	-0.316000	0.08728	CAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	231	0.00	0	T	NM_133378		179582330	179582330	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	140	11.95	19	SNP	0.886	G
TTN	7273	genome.wustl.edu	37	2	179584856	179584856	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179584856T>C	ENST00000591111.1	-	79	22786	c.22562A>G	c.(22561-22563)gAg>gGg	p.E7521G	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E7838G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E6594G			Q8WZ42	TITIN_HUMAN	titin	13075	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCACTCTCTCTGATGAC	0.433																																						dbGAP											0													111.0	103.0	106.0					2																	179584856		1852	4095	5947	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22562A>G	2.37:g.179584856T>C	ENSP00000465570:p.Glu7521Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E6594G	ENST00000591111.1	37	c.19781		2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999485	0.35320	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69278	0.3093	M	0.76938	2.355	0.80722	D	1	P	0.35844	0.524	B	0.34138	0.176	T	0.73688	-0.3904	9	0.87932	D	0	.	16.3275	0.82990	0.0:0.0:0.0:1.0	.	7521	Q8WZ42	TITIN_HUMAN	G	6594	ENSP00000343764:E6594G	ENSP00000343764:E6594G	E	-	2	0	TTN	179293101	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.893000	0.56243	2.266000	0.75297	0.528000	0.53228	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	207	0.00	0	T	NM_133378		179584856	179584856	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	113	29.81	48	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179589084	179589084	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179589084C>T	ENST00000591111.1	-	70	20291	c.20067G>A	c.(20065-20067)agG>agA	p.R6689R	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.R7006R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R5762R			Q8WZ42	TITIN_HUMAN	titin	12292	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGAGAATCCTTAAGGAAG	0.428																																						dbGAP											0													93.0	88.0	90.0					2																	179589084		1902	4123	6025	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20067G>A	2.37:g.179589084C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R5762	ENST00000591111.1	37	c.17286		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	123	0.00	0	C	NM_133378		179589084	179589084	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	102	11.21	13	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179593391	179593391	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179593391T>C	ENST00000591111.1	-	64	18535	c.18311A>G	c.(18310-18312)gAc>gGc	p.D6104G	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D6421G|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D5177G			Q8WZ42	TITIN_HUMAN	titin	12891	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTTCCCGTCTTTAAGCCA	0.408																																						dbGAP											0													100.0	89.0	93.0					2																	179593391		1852	4099	5951	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18311A>G	2.37:g.179593391T>C	ENSP00000465570:p.Asp6104Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D5177G	ENST00000591111.1	37	c.15530		2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054325	0.36277	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67040	0.2851	M	0.66378	2.025	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.70389	-0.4885	9	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	6104	Q8WZ42	TITIN_HUMAN	G	5177	ENSP00000343764:D5177G	ENSP00000343764:D5177G	D	-	2	0	TTN	179301636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.281000	0.76405	0.533000	0.62120	GAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	248	0.40	1	T	NM_133378		179593391	179593391	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	163	15.54	30	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179596285	179596285	+	Silent	SNP	G	G	A	rs397517484		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179596285G>A	ENST00000591111.1	-	57	16481	c.16257C>T	c.(16255-16257)atC>atT	p.I5419I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I5736I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.I4492I			Q8WZ42	TITIN_HUMAN	titin	12239	Ig-like 35.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTACTCTCGATCTTCTTTA	0.448																																						dbGAP											0													37.0	37.0	37.0					2																	179596285		1858	4099	5957	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16257C>T	2.37:g.179596285G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I4492	ENST00000591111.1	37	c.13476		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	136	0.00	0	G	NM_133378		179596285	179596285	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	64	26.44	23	SNP	0.017	A
TTN	7273	genome.wustl.edu	37	2	179602934	179602934	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179602934C>T	ENST00000591111.1	-	47	13519	c.13295G>A	c.(13294-13296)cGa>cAa	p.R4432Q	TTN_ENST00000359218.5_Missense_Mutation_p.R4511Q|TTN_ENST00000460472.2_Missense_Mutation_p.R4386Q|TTN_ENST00000589042.1_Missense_Mutation_p.R4749Q|TTN_ENST00000342175.6_Missense_Mutation_p.R4578Q|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3505Q			Q8WZ42	TITIN_HUMAN	titin	12188	Ig-like 24.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R4386Q(1)|p.R3505Q(1)|p.R4511Q(1)|p.R4578Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGAAGATCGAATAGAACA	0.463																																						dbGAP											4	Substitution - Missense(4)	large_intestine(4)											65.0	62.0	63.0					2																	179602934		1865	4110	5975	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13295G>A	2.37:g.179602934C>T	ENSP00000465570:p.Arg4432Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R3505Q	ENST00000591111.1	37	c.10514		2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553503	0.45487	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.67	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54598	0.1868	.	.	.	0.20196	N	0.999925	B;B;B;B	0.19817	0.01;0.01;0.039;0.01	B;B;B;B	0.10450	0.003;0.003;0.005;0.003	T	0.47535	-0.9110	8	0.87932	D	0	.	8.6128	0.33813	0.0:0.7862:0.0:0.2138	.	4386;4511;4578;4432	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	3505;4386;4578;4511;4386	ENSP00000343764:R3505Q;ENSP00000434586:R4386Q;ENSP00000340554:R4578Q;ENSP00000352154:R4511Q	ENSP00000340554:R4578Q	R	-	2	0	TTN	179311179	0.914000	0.31030	1.000000	0.80357	0.911000	0.54048	1.639000	0.37176	2.689000	0.91719	0.462000	0.41574	CGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	178	0.00	0	C	NM_133378		179602934	179602934	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	115	12.88	17	SNP	0.888	T
TTN	7273	genome.wustl.edu	37	2	179611124	179611124	+	Intron	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179611124C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E5335K			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGTAAATTCGGGAACTGTC	0.358																																						dbGAP											0													60.0	54.0	56.0					2																	179611124		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4476G>A	2.37:g.179611124C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E5335K	ENST00000591111.1	37	c.16003		2	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738810	0.69304	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.60548	0.18	5.88	5.01	0.66863	.	.	.	.	.	T	0.56630	0.1998	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59209	-0.7497	9	0.25751	T	0.34	.	15.0043	0.71498	0.0:0.9321:0.0:0.0679	.	5335	Q8WZ42-6	.	K	5335;616	ENSP00000354117:E5335K	ENSP00000304714:E616K	E	-	1	0	TTN	179319369	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	7.818000	0.86416	1.500000	0.48636	-0.136000	0.14681	GAA	TTN	-	NULL	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	111	0.00	0	C	NM_133378		179611124	179611124	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	62	30.34	27	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179614269	179614269	+	Intron	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179614269A>C	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.F4286L			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAATCATAAAAATGTGCCC	0.363																																						dbGAP											0													61.0	63.0	62.0					2																	179614269		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3581T>G	2.37:g.179614269A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F4286L	ENST00000591111.1	37	c.12858		2	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617908	0.28801	.	.	ENSG00000155657	ENST00000360870	T	0.55760	0.5	5.75	0.213	0.15244	.	.	.	.	.	T	0.28699	0.0711	N	0.24115	0.695	0.20074	N	0.999932	B	0.06786	0.001	B	0.09377	0.004	T	0.22941	-1.0202	9	0.07644	T	0.81	.	3.9669	0.09436	0.443:0.367:0.0712:0.1188	.	4286	Q8WZ42-6	.	L	4286	ENSP00000354117:F4286L	ENSP00000354117:F4286L	F	-	3	2	TTN	179322514	0.992000	0.36948	0.859000	0.33776	0.738000	0.42128	0.446000	0.21694	0.085000	0.17107	-0.256000	0.11100	TTT	TTN	-	NULL	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	172	0.00	0	A	NM_133378		179614269	179614269	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	missense	96	20.66	25	SNP	0.234	C
TTN	7273	genome.wustl.edu	37	2	179635334	179635334	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179635334C>T	ENST00000591111.1	-	35	8409	c.8185G>A	c.(8185-8187)Gag>Aag	p.E2729K	TTN_ENST00000359218.5_Missense_Mutation_p.E2683K|TTN_ENST00000460472.2_Missense_Mutation_p.E2683K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E2729K|TTN_ENST00000342175.6_Missense_Mutation_p.E2683K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2729K|TTN_ENST00000360870.5_Missense_Mutation_p.E2729K|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13056					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTAAGCTCGACAGTGAAA	0.378																																						dbGAP											0													158.0	154.0	155.0					2																	179635334		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8185G>A	2.37:g.179635334C>T	ENSP00000465570:p.Glu2729Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2729K	ENST00000591111.1	37	c.8185		2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844216	0.51164	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.66	4.79	0.61399	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81574	0.4851	M	0.86864	2.845	0.33220	D	0.554536	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.988	D;D;D;D;P	0.83275	0.996;0.996;0.996;0.996;0.648	D	0.88655	0.3185	9	0.87932	D	0	.	14.9709	0.71232	0.0:0.9313:0.0:0.0687	.	2683;2683;2683;2729;2729	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2729;2683;2683;2683;2683;2729	ENSP00000343764:E2729K;ENSP00000434586:E2683K;ENSP00000340554:E2683K;ENSP00000352154:E2683K;ENSP00000354117:E2729K	ENSP00000340554:E2683K	E	-	1	0	TTN	179343579	1.000000	0.71417	0.686000	0.30086	0.990000	0.78478	6.028000	0.70889	1.536000	0.49237	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	305	0.00	0	C	NM_133378		179635334	179635334	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	170	23.66	53	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179638266	179638266	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179638266C>T	ENST00000591111.1	-	32	7741	c.7517G>A	c.(7516-7518)cGa>cAa	p.R2506Q	TTN_ENST00000359218.5_Missense_Mutation_p.R2460Q|TTN_ENST00000460472.2_Missense_Mutation_p.R2460Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2506Q|TTN_ENST00000342175.6_Missense_Mutation_p.R2460Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2506Q|TTN_ENST00000360870.5_Missense_Mutation_p.R2506Q|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12827	Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCATGAGTTCGGTTAATGAC	0.403																																						dbGAP											0													157.0	146.0	150.0					2																	179638266		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7517G>A	2.37:g.179638266C>T	ENSP00000465570:p.Arg2506Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R2506Q	ENST00000591111.1	37	c.7517		2	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898441	0.52227	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60753	0.2293	L	0.43598	1.365	0.33270	D	0.560851	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	T	0.66913	-0.5803	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2460;2460;2460;2506;2506	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2506;2460;2460;2460;2460;2506	ENSP00000343764:R2506Q;ENSP00000434586:R2460Q;ENSP00000340554:R2460Q;ENSP00000352154:R2460Q;ENSP00000354117:R2506Q	ENSP00000340554:R2460Q	R	-	2	0	TTN	179346511	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.872000	0.63050	2.765000	0.95021	0.650000	0.86243	CGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	348	0.29	1	C	NM_133378		179638266	179638266	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	184	28.02	72	SNP	1.000	T
TUBA3E	112714	genome.wustl.edu	37	2	130951527	130951527	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:130951527G>A	ENST00000312988.7	-	4	988	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	296					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGGCTGGCTCGAAGCAGGCAT	0.597																																						dbGAP											0													132.0	112.0	119.0					2																	130951527		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.888C>T	2.37:g.130951527G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.F296	ENST00000312988.7	37	c.888	CCDS2158.1	2																																																																																			TUBA3E	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom	ENSG00000152086		0.597	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	111	0.00	0	G	NM_207312		130951527	130951527	-1	no_errors	ENST00000312988	ensembl	human	known	69_37n	silent	70	17.65	15	SNP	0.990	A
TTN	7273	genome.wustl.edu	37	2	179639761	179639761	+	Missense_Mutation	SNP	C	C	A	rs370438618		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:179639761C>A	ENST00000591111.1	-	29	6901	c.6677G>T	c.(6676-6678)aGa>aTa	p.R2226I	TTN_ENST00000359218.5_Missense_Mutation_p.R2180I|TTN_ENST00000460472.2_Missense_Mutation_p.R2180I|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R2226I|TTN_ENST00000342175.6_Missense_Mutation_p.R2180I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2226I|TTN_ENST00000360870.5_Missense_Mutation_p.R2226I|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12552	Ig-like 11.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAACCTTTCTGTCAGAGTG	0.393																																						dbGAP											0													187.0	174.0	178.0					2																	179639761		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6677G>T	2.37:g.179639761C>A	ENSP00000465570:p.Arg2226Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R2226I	ENST00000591111.1	37	c.6677		2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201091	0.58234	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82559	0.5063	M	0.74258	2.255	0.53688	D	0.999973	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.84347	0.0530	9	0.87932	D	0	.	19.2123	0.93760	0.0:1.0:0.0:0.0	.	2180;2180;2180;2226;2226	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	I	2226;2180;2180;2180;2180;2226	ENSP00000343764:R2226I;ENSP00000434586:R2180I;ENSP00000340554:R2180I;ENSP00000352154:R2180I;ENSP00000354117:R2226I	ENSP00000340554:R2180I	R	-	2	0	TTN	179348006	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.818000	0.86416	2.542000	0.85734	0.557000	0.71058	AGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	327	0.00	0	C	NM_133378		179639761	179639761	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	241	11.40	31	SNP	1.000	A
TUBA8	51807	genome.wustl.edu	37	22	18609364	18609364	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:18609364G>A	ENST00000330423.3	+	4	692	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	TUBA8_ENST00000316027.6_Missense_Mutation_p.E141K	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	207					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GGTGGACAACGAAGCCATCTA	0.532																																						dbGAP											0													175.0	152.0	160.0					22																	18609364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.619G>A	22.37:g.18609364G>A	ENSP00000333326:p.Glu207Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E207K	ENST00000330423.3	37	c.619	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	21.5	4.162025	0.78226	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.70631	-0.5;-0.5;-0.5	5.67	5.67	0.87782	Tubulin/FtsZ, GTPase domain (4);	0.049921	0.85682	D	0.000000	D	0.88976	0.6584	H	0.95187	3.635	0.80722	D	1	P;D;D	0.89917	0.911;0.995;1.0	B;P;D	0.67900	0.256;0.684;0.954	D	0.91554	0.5259	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	141;231;207	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	K	141;207;231	ENSP00000318575:E141K;ENSP00000333326:E207K;ENSP00000412646:E231K	ENSP00000318575:E141K	E	+	1	0	TUBA8	16989364	1.000000	0.71417	0.769000	0.31535	0.989000	0.77384	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GAA	TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000183785		0.532	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	255	0.00	0	G	NM_018943		18609364	18609364	+1	no_errors	ENST00000330423	ensembl	human	known	69_37n	missense	207	29.01	85	SNP	1.000	A
TUBAL3	79861	genome.wustl.edu	37	10	5442911	5442911	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:5442911T>C	ENST00000380419.3	-	2	180	c.143A>G	c.(142-144)aAa>aGa	p.K48R	TUBAL3_ENST00000479328.1_Missense_Mutation_p.K8R	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	48					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGCTCCATTTTTGCATTTTC	0.488																																						dbGAP											0													235.0	204.0	215.0					10																	5442911		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.143A>G	10.37:g.5442911T>C	ENSP00000369784:p.Lys48Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.K48R	ENST00000380419.3	37	c.143	CCDS7066.2	10	.	.	.	.	.	.	.	.	.	.	T	8.011	0.757526	0.15846	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.71934	-0.61;-0.61	3.93	2.76	0.32466	Tubulin/FtsZ, GTPase domain (3);	1.234540	0.05944	N	0.637590	T	0.60183	0.2249	L	0.28014	0.82	0.09310	N	1	B;B	0.16396	0.003;0.017	B;B	0.09377	0.003;0.004	T	0.51996	-0.8634	10	0.87932	D	0	.	9.1812	0.37143	0.0:0.0:0.3552:0.6448	.	8;48	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	R	48;8	ENSP00000369784:K48R;ENSP00000418799:K8R	ENSP00000369784:K48R	K	-	2	0	TUBAL3	5432911	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.196000	0.17176	0.609000	0.30018	0.460000	0.39030	AAA	TUBAL3	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	ENSG00000178462		0.488	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBAL3	HGNC	protein_coding	OTTHUMT00000046548.2	115	0.00	0	T	NM_024803		5442911	5442911	-1	no_errors	ENST00000380419	ensembl	human	known	69_37n	missense	74	17.78	16	SNP	0.002	C
TUBB1	81027	genome.wustl.edu	37	20	57598563	57598563	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:57598563G>A	ENST00000217133.1	+	3	454	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	62					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TATGTGCCCCGAGCAGTCTTG	0.398																																						dbGAP											0													131.0	131.0	131.0					20																	57598563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.185G>A	20.37:g.57598563G>A	ENSP00000217133:p.Arg62Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.R62Q	ENST00000217133.1	37	c.185	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746027	0.89663	.	.	ENSG00000101162	ENST00000217133	D	0.82081	-1.57	5.09	5.09	0.68999	Tubulin/FtsZ, GTPase domain (4);	0.115221	0.64402	D	0.000020	D	0.93893	0.8046	H	0.99487	4.59	0.80722	D	1	D	0.60575	0.988	P	0.53518	0.728	D	0.96750	0.9553	10	0.87932	D	0	.	17.4529	0.87597	0.0:0.0:1.0:0.0	.	62	Q9H4B7	TBB1_HUMAN	Q	62	ENSP00000217133:R62Q	ENSP00000217133:R62Q	R	+	2	0	TUBB1	57031958	1.000000	0.71417	0.848000	0.33437	0.998000	0.95712	7.894000	0.87336	2.370000	0.80446	0.655000	0.94253	CGA	TUBB1	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000101162		0.398	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	364	0.00	0	G	NM_030773		57598563	57598563	+1	no_errors	ENST00000217133	ensembl	human	known	69_37n	missense	229	14.55	39	SNP	1.000	A
TUBGCP2	10844	genome.wustl.edu	37	10	135097477	135097477	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:135097477C>T	ENST00000252936.3	-	13	2093	c.2054G>A	c.(2053-2055)cGa>cAa	p.R685Q	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.R278Q|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.R555Q|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.R713Q|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.R685Q			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	685					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GTTGAGCATTCGCTGCCGCAG	0.537																																						dbGAP											0													104.0	97.0	99.0					10																	135097477		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2054G>A	10.37:g.135097477C>T	ENSP00000252936:p.Arg685Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	pfam_Spc97_Spc98,superfamily_Ocr	p.R713Q	ENST00000252936.3	37	c.2138	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.531444	0.96446	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.965;0.979;0.992	T	0.03695	-1.1012	10	0.56958	D	0.05	-23.6337	17.4994	0.87727	0.0:1.0:0.0:0.0	.	713;713;685	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	685;555;685;278;713	ENSP00000252936:R685Q;ENSP00000395666:R555Q;ENSP00000357551:R685Q;ENSP00000357550:R278Q;ENSP00000446093:R713Q	ENSP00000252936:R685Q	R	-	2	0	TUBGCP2	134947467	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	7.367000	0.79558	2.549000	0.85964	0.655000	0.94253	CGA	TUBGCP2	-	pfam_Spc97_Spc98	ENSG00000130640		0.537	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	51	0.00	0	C			135097477	135097477	-1	no_errors	ENST00000543663	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	1.000	T
TUBGCP3	10426	genome.wustl.edu	37	13	113174225	113174225	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:113174225C>T	ENST00000261965.3	-	15	2042	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R619Q|TUBGCP3_ENST00000462580.1_5'Flank	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	619					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTCCAGCCTTCGCAGGATCTC	0.597																																						dbGAP											0													96.0	96.0	96.0					13																	113174225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1856G>A	13.37:g.113174225C>T	ENSP00000261965:p.Arg619Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.R619Q	ENST00000261965.3	37	c.1856	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270768	0.40194	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.07908	3.15;3.15	5.02	0.284	0.15701	.	0.095796	0.64402	D	0.000002	T	0.04318	0.0119	N	0.17723	0.515	0.09310	N	0.999999	B;B;B	0.15141	0.012;0.0;0.002	B;B;B	0.17098	0.017;0.001;0.017	T	0.46762	-0.9168	10	0.10111	T	0.7	-7.3251	8.3548	0.32324	0.0:0.3112:0.0:0.6888	.	609;619;619	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	Q	619	ENSP00000261965:R619Q;ENSP00000364821:R619Q	ENSP00000261965:R619Q	R	-	2	0	TUBGCP3	112222226	0.997000	0.39634	0.003000	0.11579	0.968000	0.65278	2.325000	0.43840	-0.182000	0.10602	0.558000	0.71614	CGA	TUBGCP3	-	pfam_Spc97_Spc98	ENSG00000126216		0.597	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	142	0.00	0	C	NM_006322		113174225	113174225	-1	no_errors	ENST00000261965	ensembl	human	known	69_37n	missense	52	25.71	18	SNP	0.394	T
TUBGCP3	10426	genome.wustl.edu	37	13	113200015	113200015	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:113200015C>T	ENST00000261965.3	-	11	1519	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.E445K|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	445					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ATCCTTACTTCGTGGTAAGTG	0.483																																						dbGAP											0													148.0	133.0	138.0					13																	113200015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1333G>A	13.37:g.113200015C>T	ENSP00000261965:p.Glu445Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.E445K	ENST00000261965.3	37	c.1333	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040953	0.93685	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.19669	2.13;2.13	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.987	T	0.70432	-0.4873	10	0.87932	D	0	-31.9025	18.7011	0.91620	0.0:1.0:0.0:0.0	.	435;445;445	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	K	445	ENSP00000261965:E445K;ENSP00000364821:E445K	ENSP00000261965:E445K	E	-	1	0	TUBGCP3	112248016	1.000000	0.71417	0.110000	0.21437	0.694000	0.40290	7.128000	0.77217	2.416000	0.81992	0.549000	0.68633	GAA	TUBGCP3	-	pfam_Spc97_Spc98	ENSG00000126216		0.483	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	247	0.00	0	C	NM_006322		113200015	113200015	-1	no_errors	ENST00000261965	ensembl	human	known	69_37n	missense	126	16.00	24	SNP	1.000	T
TUBGCP5	114791	genome.wustl.edu	37	15	22841055	22841055	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:22841055C>T	ENST00000283645.4	+	5	553	c.423C>T	c.(421-423)ttC>ttT	p.F141F	TUBGCP5_ENST00000453949.2_Silent_p.F141F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	141					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAGATGATTTCGACTGGGGAA	0.318																																						dbGAP											0													73.0	71.0	72.0					15																	22841055		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.423C>T	15.37:g.22841055C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB12|Q6IQ52|Q96PY8	Nonsense_Mutation	SNP	NULL	p.R56*	ENST00000283645.4	37	c.166	CCDS10008.1	15																																																																																			TUBGCP5	-	NULL	ENSG00000153575		0.318	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	78	0.00	0	C	NM_052903		22841055	22841055	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558664	ensembl	human	novel	69_37n	nonsense	87	13.00	13	SNP	1.000	T
TUBGCP4	27229	genome.wustl.edu	37	15	43692373	43692373	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43692373G>T	ENST00000260383.7	+	14	1807	c.1553G>T	c.(1552-1554)aGa>aTa	p.R518I	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.R517I			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	518					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGGCGCCTAAGAAATCACATG	0.512																																						dbGAP											0													154.0	154.0	154.0					15																	43692373		1986	4159	6145	-	-	-	SO:0001583	missense	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1553G>T	15.37:g.43692373G>T	ENSP00000260383:p.Arg518Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.R518I	ENST00000260383.7	37	c.1553		15	.	.	.	.	.	.	.	.	.	.	G	31	5.061932	0.93846	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.82823	2.61	0.80722	D	1	D;D	0.57257	0.966;0.979	P;P	0.60682	0.878;0.85	T	0.81963	-0.0692	9	0.72032	D	0.01	-14.7349	18.2666	0.90054	0.0:0.0:1.0:0.0	.	518;517	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	I	517	.	ENSP00000260383:R517I	R	+	2	0	TUBGCP4	41479665	1.000000	0.71417	0.218000	0.23776	0.995000	0.86356	9.601000	0.98297	2.861000	0.98227	0.655000	0.94253	AGA	TUBGCP4	-	pfam_Spc97_Spc98	ENSG00000137822		0.512	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	485	0.41	2	G	NM_014444		43692373	43692373	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	missense	289	12.16	40	SNP	0.967	T
TUBGCP6	85378	genome.wustl.edu	37	22	50671772	50671772	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:50671772G>A	ENST00000248846.5	-	3	1193	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	TUBGCP6_ENST00000439308.2_Silent_p.V363V			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	363					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGCAGACACGACCCCAATCA	0.642																																						dbGAP											0													109.0	58.0	76.0					22																	50671772		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1089C>T	22.37:g.50671772G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.S107L	ENST00000248846.5	37	c.320	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857851	0.17178	.	.	ENSG00000128159	ENST00000434349	.	.	.	5.69	-11.4	0.00090	.	.	.	.	.	T	0.49304	0.1549	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63646	-0.6590	4	.	.	.	.	11.6246	0.51138	0.4784:0.3914:0.1302:0.0	.	.	.	.	L	107	.	.	S	-	2	0	TUBGCP6	49013899	0.126000	0.22350	0.001000	0.08648	0.768000	0.43524	-0.393000	0.07305	-2.215000	0.00733	-0.254000	0.11334	TCG	TUBGCP6	-	pfam_Spc97_Spc98	ENSG00000128159		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	45	0.00	0	G	NM_020461		50671772	50671772	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434349	ensembl	human	putative	69_37n	missense	28	20.00	7	SNP	0.016	A
SH2B1	25970	genome.wustl.edu	37	16	28855414	28855414	+	5'Flank	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:28855414T>G	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Missense_Mutation_p.M311L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTGTGGAACATCTCAATGCCT	0.617																																						dbGAP											0													55.0	58.0	57.0					16																	28855414		2197	4300	6497	-	-	-	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855414T>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.M311L	ENST00000322610.8	37	c.931	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602686	0.87157	.	.	ENSG00000178952	ENST00000313511	T	0.65549	-0.16	6.02	6.02	0.97574	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.87394	0.6166	H	0.99026	4.405	0.80722	D	1	P	0.50710	0.938	D	0.65773	0.938	D	0.92078	0.5670	10	0.87932	D	0	0.0822	15.5272	0.75919	0.0:0.0:0.0:1.0	.	308	P49411	EFTU_HUMAN	L	311	ENSP00000322439:M311L	ENSP00000322439:M311L	M	-	1	0	TUFM	28762915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.837000	0.75354	2.311000	0.77944	0.533000	0.62120	ATG	TUFM	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.617	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1	78	0.00	0	T	NM_015503		28855414	28855414	-1	no_errors	ENST00000313511	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	1.000	G
TULP4	56995	genome.wustl.edu	37	6	158924906	158924906	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:158924906A>G	ENST00000367097.3	+	13	5568	c.4211A>G	c.(4210-4212)gAc>gGc	p.D1404G	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1404					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGTTCCAGGACAGCTCCGAG	0.532																																						dbGAP											0													62.0	68.0	66.0					6																	158924906		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4211A>G	6.37:g.158924906A>G	ENSP00000356064:p.Asp1404Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1404G	ENST00000367097.3	37	c.4211	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	A	19.74	3.882963	0.72410	.	.	ENSG00000130338	ENST00000367097	T	0.66995	-0.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.71307	0.3324	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75224	-0.3393	10	0.66056	D	0.02	-39.2455	15.9319	0.79668	1.0:0.0:0.0:0.0	.	1404	Q9NRJ4	TULP4_HUMAN	G	1404	ENSP00000356064:D1404G	ENSP00000356064:D1404G	D	+	2	0	TULP4	158844894	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.710000	0.91388	2.225000	0.72522	0.459000	0.35465	GAC	TULP4	-	NULL	ENSG00000130338		0.532	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	96	0.00	0	A	NM_020245		158924906	158924906	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	G
TUSC3	7991	genome.wustl.edu	37	8	15519668	15519668	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:15519668C>T	ENST00000503731.1	+	5	719	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TUSC3_ENST00000506802.1_Missense_Mutation_p.R191W|TUSC3_ENST00000382020.4_Missense_Mutation_p.R191W|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.R191W	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	191					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTTGCAGATTCGGGTTTTCAG	0.353																																						dbGAP											0													122.0	122.0	122.0					8																	15519668		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.571C>T	8.37:g.15519668C>T	ENSP00000424544:p.Arg191Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.R191W	ENST00000503731.1	37	c.571	CCDS5994.1	8	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806125	0.70682	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.04	3.13	0.36017	.	0.053781	0.85682	D	0.000000	D	0.87625	0.6224	M	0.83774	2.66	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.99;0.993;0.992;0.999;0.993;0.96	D	0.88041	0.2781	10	0.72032	D	0.01	-10.5165	12.6801	0.56916	0.4511:0.5489:0.0:0.0	.	191;191;191;191;191;191	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	W	191	ENSP00000371450:R191W;ENSP00000425777:R191W;ENSP00000423426:R191W;ENSP00000424544:R191W	ENSP00000221167:R191W	R	+	1	2	TUSC3	15564039	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.759000	0.62227	0.567000	0.29293	0.655000	0.94253	CGG	TUSC3	-	pfam_OligosaccharylTrfase_OST3/OST6	ENSG00000104723		0.353	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	HGNC	protein_coding	OTTHUMT00000365367.1	306	0.65	2	C	NM_006765		15519668	15519668	+1	no_errors	ENST00000351598	ensembl	human	known	69_37n	missense	186	17.98	41	SNP	1.000	T
TXLNB	167838	genome.wustl.edu	37	6	139564361	139564361	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:139564361C>T	ENST00000358430.3	-	10	1589	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	453						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTGTGGAGTTCGTTTCTCTCT	0.438																																						dbGAP											0													91.0	89.0	89.0					6																	139564361		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1357G>A	6.37:g.139564361C>T	ENSP00000351206:p.Glu453Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin	p.E453K	ENST00000358430.3	37	c.1357	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	C	30	5.053587	0.93793	.	.	ENSG00000164440	ENST00000358430	T	0.78003	-1.14	6.06	6.06	0.98353	.	0.276196	0.43747	D	0.000534	T	0.75309	0.3832	L	0.34521	1.04	0.45554	D	0.998506	D	0.69078	0.997	P	0.56163	0.793	T	0.71764	-0.4494	9	.	.	.	-26.3642	20.2159	0.98296	0.0:1.0:0.0:0.0	.	453	Q8N3L3	TXLNB_HUMAN	K	453	ENSP00000351206:E453K	.	E	-	1	0	TXLNB	139606054	0.912000	0.30974	0.967000	0.41034	0.929000	0.56500	3.223000	0.51231	2.882000	0.98803	0.655000	0.94253	GAA	TXLNB	-	NULL	ENSG00000164440		0.438	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	184	0.00	0	C	NM_153235		139564361	139564361	-1	no_errors	ENST00000358430	ensembl	human	known	69_37n	missense	126	11.19	16	SNP	0.981	T
TXLNB	167838	genome.wustl.edu	37	6	139583814	139583814	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:139583814C>T	ENST00000358430.3	-	5	1016	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	262						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTGCTGCTCGATCTGGCCC	0.512																																						dbGAP											0													193.0	154.0	167.0					6																	139583814		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.784G>A	6.37:g.139583814C>T	ENSP00000351206:p.Glu262Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	pfam_Taxilin	p.E262K	ENST00000358430.3	37	c.784	CCDS34545.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601423	0.87055	.	.	ENSG00000164440	ENST00000358430	T	0.36157	1.27	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50642	-0.8804	9	.	.	.	-24.4424	19.9334	0.97128	0.0:1.0:0.0:0.0	.	262	Q8N3L3	TXLNB_HUMAN	K	262	ENSP00000351206:E262K	.	E	-	1	0	TXLNB	139625507	1.000000	0.71417	0.965000	0.40720	0.612000	0.37316	5.956000	0.70315	2.712000	0.92718	0.655000	0.94253	GAG	TXLNB	-	pfam_Taxilin	ENSG00000164440		0.512	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	221	0.00	0	C	NM_153235		139583814	139583814	-1	no_errors	ENST00000358430	ensembl	human	known	69_37n	missense	208	15.73	39	SNP	1.000	T
TXLNG	55787	genome.wustl.edu	37	X	16838292	16838292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:16838292G>T	ENST00000380122.5	+	3	473	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	TXLNG_ENST00000398155.4_Intron	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	138					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ATCAGGAAAAGAAGTTTTATT	0.398																																						dbGAP											0													132.0	129.0	130.0					X																	16838292		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.412G>T	X.37:g.16838292G>T	ENSP00000369465:p.Glu138*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KQ75|Q5JNZ7|Q9P0X1	Nonsense_Mutation	SNP	pfam_Taxilin	p.E138*	ENST00000380122.5	37	c.412	CCDS14178.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.618459	0.97709	.	.	ENSG00000086712	ENST00000380122	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-21.8424	18.953	0.92646	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000369465:E138X	E	+	1	0	TXLNG	16748213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.779000	0.99018	2.510000	0.84645	0.513000	0.50165	GAA	TXLNG	-	pfam_Taxilin	ENSG00000086712		0.398	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1	185	0.00	0	G	NM_018360		16838292	16838292	+1	no_errors	ENST00000380122	ensembl	human	known	69_37n	nonsense	122	25.61	42	SNP	1.000	T
TXNDC16	57544	genome.wustl.edu	37	14	52905953	52905953	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:52905953C>A	ENST00000281741.4	-	20	2534	c.2163G>T	c.(2161-2163)aaG>aaT	p.K721N	TXNDC16_ENST00000554399.1_5'Flank	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	721					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTCTAATTTCTTCAGCCACA	0.333																																						dbGAP											0													90.0	89.0	89.0					14																	52905953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.2163G>T	14.37:g.52905953C>A	ENSP00000281741:p.Lys721Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.K721N	ENST00000281741.4	37	c.2163	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642788	0.47153	.	.	ENSG00000087301	ENST00000281741	T	0.29655	1.56	5.33	1.46	0.22682	.	0.303210	0.38217	N	0.001766	T	0.31575	0.0801	L	0.57536	1.79	0.30334	N	0.78638	P;P	0.36027	0.533;0.526	B;B	0.40134	0.314;0.32	T	0.27606	-1.0069	10	0.59425	D	0.04	-21.2556	10.1379	0.42717	0.0:0.7487:0.0:0.2513	.	716;721	B7ZME4;Q9P2K2	.;TXD16_HUMAN	N	721	ENSP00000281741:K721N	ENSP00000281741:K721N	K	-	3	2	TXNDC16	51975703	1.000000	0.71417	0.986000	0.45419	0.874000	0.50279	1.286000	0.33273	-0.009000	0.14296	0.585000	0.79938	AAG	TXNDC16	-	NULL	ENSG00000087301		0.333	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	346	0.29	1	C	XM_051699		52905953	52905953	-1	no_errors	ENST00000281741	ensembl	human	known	69_37n	missense	198	13.16	30	SNP	1.000	A
TXNDC16	57544	genome.wustl.edu	37	14	53009142	53009142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:53009142C>A	ENST00000281741.4	-	4	561	c.190G>T	c.(190-192)Gaa>Taa	p.E64*	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	64					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TCATTCAGTTCTTCAAGAAAT	0.328																																						dbGAP											0													64.0	63.0	64.0					14																	53009142		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.190G>T	14.37:g.53009142C>A	ENSP00000281741:p.Glu64*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E64*	ENST00000281741.4	37	c.190	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	38	7.202848	0.98132	.	.	ENSG00000087301	ENST00000281741	.	.	.	5.5	2.37	0.29283	.	0.314914	0.37906	N	0.001892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-14.7205	12.9836	0.58579	0.0:0.5286:0.4714:0.0	.	.	.	.	X	64	.	ENSP00000281741:E64X	E	-	1	0	TXNDC16	52078892	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.390000	0.34464	0.740000	0.32651	0.591000	0.81541	GAA	TXNDC16	-	superfamily_Thioredoxin-like_fold	ENSG00000087301		0.328	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	125	0.00	0	C	XM_051699		53009142	53009142	-1	no_errors	ENST00000281741	ensembl	human	known	69_37n	nonsense	136	20.47	35	SNP	1.000	A
TXNDC5	81567	genome.wustl.edu	37	6	7886205	7886205	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:7886205A>C	ENST00000379757.4	-	8	1072	c.1035T>G	c.(1033-1035)ttT>ttG	p.F345L	TXNDC5_ENST00000539054.1_Missense_Mutation_p.F273L|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.F237L	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	345	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					ATGGAGCATAAAACTTGATGA	0.423																																					Ovarian(119;1430 1625 3928 26125 34589)	dbGAP											0													159.0	129.0	139.0					6																	7886205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1035T>G	6.37:g.7886205A>C	ENSP00000369081:p.Phe345Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.F345L	ENST00000379757.4	37	c.1035	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429296	0.83776	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.44482	0.92;0.92;0.92	5.61	-3.87	0.04218	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	H	0.95574	3.69	0.80722	D	1	P;P	0.51537	0.946;0.763	P;P	0.58577	0.841;0.681	T	0.77365	-0.2615	10	0.87932	D	0	.	16.9193	0.86160	0.2509:0.0:0.7491:0.0	.	273;345	Q86UY0;Q8NBS9	.;TXND5_HUMAN	L	273;345;237	ENSP00000442453:F273L;ENSP00000369081:F345L;ENSP00000420784:F237L	ENSP00000442453:F273L	F	-	3	2	TXNDC5	7831204	0.997000	0.39634	0.607000	0.28956	0.976000	0.68499	0.413000	0.21148	-0.831000	0.04256	-0.250000	0.11733	TTT	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	ENSG00000239264		0.423	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	127	0.00	0	A	NM_030810		7886205	7886205	-1	no_errors	ENST00000379757	ensembl	human	known	69_37n	missense	84	22.22	24	SNP	0.998	C
TXNIP	10628	genome.wustl.edu	37	1	145440059	145440059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:145440059G>T	ENST00000369317.4	+	4	827	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCTAAAAAAGAAAAGAAAGT	0.408																																						dbGAP											0													171.0	194.0	186.0					1																	145440059		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.493G>T	1.37:g.145440059G>T	ENSP00000358323:p.Glu165*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3D3|Q16226|Q6PML0|Q9BXG9	Nonsense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.E165*	ENST00000369317.4	37	c.493	CCDS913.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.777016	0.96929	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-8.5098	16.2048	0.82120	0.0:0.0:1.0:0.0	.	.	.	.	X	165;110	.	ENSP00000358323:E165X	E	+	1	0	TXNIP	144151416	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.397000	0.59690	2.696000	0.92011	0.651000	0.88453	GAA	TXNIP	-	superfamily_Ig_E-set	ENSG00000117289		0.408	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	148	0.00	0	G	NM_006472		145440059	145440059	+1	no_errors	ENST00000369317	ensembl	human	known	69_37n	nonsense	92	33.33	46	SNP	1.000	T
TXNRD1	7296	genome.wustl.edu	37	12	104714974	104714974	+	Silent	SNP	C	C	T	rs201777096	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:104714974C>T	ENST00000529546.1	+	7	756	c.531C>T	c.(529-531)gaC>gaT	p.D177D	TXNRD1_ENST00000503506.2_Silent_p.D215D|TXNRD1_ENST00000397736.2_Silent_p.D259D|TXNRD1_ENST00000354940.6_Silent_p.D215D|TXNRD1_ENST00000526390.1_Silent_p.D259D|TXNRD1_ENST00000540716.1_Silent_p.D177D|TXNRD1_ENST00000542918.1_Silent_p.D265D|TXNRD1_ENST00000429002.2_Silent_p.D365D|TXNRD1_ENST00000525566.1_Silent_p.D365D|TXNRD1_ENST00000427956.1_Silent_p.D330D|TXNRD1_ENST00000524698.1_Silent_p.D215D|TXNRD1_ENST00000388854.3_Silent_p.D267D|TXNRD1_ENST00000526950.1_Silent_p.D284D|TXNRD1_ENST00000378070.4_Silent_p.D314D|TXNRD1_ENST00000526691.1_Silent_p.D267D			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	365					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TTGGTTTAGACGTCACTGTTA	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		18475	0.0		0.0	False		,,,				2504	0.002				Ovarian(139;555 1836 9186 9946 10884)	dbGAP											0													309.0	285.0	292.0					12																	104714974		1965	4156	6121	-	-	-	SO:0001819	synonymous_variant	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.531C>T	12.37:g.104714974C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.D365	ENST00000529546.1	37	c.1095	CCDS58274.1	12																																																																																			TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000198431		0.448	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	569	0.00	0	C	NM_003330		104714974	104714974	+1	no_errors	ENST00000429002	ensembl	human	known	69_37n	silent	372	12.47	53	SNP	0.972	T
TYRP1	7306	genome.wustl.edu	37	9	12702374	12702374	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:12702374T>G	ENST00000388918.5	+	5	1146	c.1017T>G	c.(1015-1017)gtT>gtG	p.V339V	TYRP1_ENST00000381137.2_Silent_p.V49V|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.V49V	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	339					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GCTTGGAAGTTGGTTTATTTG	0.438									Oculocutaneous Albinism																													dbGAP											0													138.0	114.0	122.0					9																	12702374		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1017T>G	9.37:g.12702374T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P78468|P78469|Q13721|Q15679	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.V339	ENST00000388918.5	37	c.1017	CCDS34990.1	9																																																																																			TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000107165		0.438	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	397	0.00	0	T	NM_000550		12702374	12702374	+1	no_errors	ENST00000388918	ensembl	human	known	69_37n	silent	287	10.87	35	SNP	0.433	G
TYW1	55253	genome.wustl.edu	37	7	66660289	66660289	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:66660289G>A	ENST00000359626.5	+	15	2106	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	648					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATGTGAACACGAACACTCTAA	0.473																																						dbGAP											0													143.0	140.0	141.0					7																	66660289		2203	4298	6501	-	-	-	SO:0001583	missense	0			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1942G>A	7.37:g.66660289G>A	ENSP00000352645:p.Glu648Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin	p.E648K	ENST00000359626.5	37	c.1942	CCDS5538.1	7	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259066	0.59321	.	.	ENSG00000198874	ENST00000359626	T	0.47177	0.85	3.7	3.7	0.42460	tRNA wybutosine-synthesis (1);	0.000000	0.64402	U	0.000002	T	0.46483	0.1395	M	0.73372	2.23	0.80722	D	1	B	0.30068	0.267	B	0.29716	0.106	T	0.47235	-0.9133	10	0.30854	T	0.27	.	13.2966	0.60301	0.0:0.0:1.0:0.0	.	648	Q9NV66	TYW1_HUMAN	K	648	ENSP00000352645:E648K	ENSP00000352645:E648K	E	+	1	0	TYW1	66297724	1.000000	0.71417	0.986000	0.45419	0.901000	0.52897	6.546000	0.73887	1.755000	0.51935	0.514000	0.50259	GAA	TYW1	-	pfam_tRNA_wybutosine-synth	ENSG00000198874		0.473	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW1	HGNC	protein_coding	OTTHUMT00000251932.2	697	0.43	3	G	NM_018264		66660289	66660289	+1	no_errors	ENST00000359626	ensembl	human	known	69_37n	missense	432	17.52	92	SNP	1.000	A
TYW3	127253	genome.wustl.edu	37	1	75229674	75229675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:75229674_75229675insA	ENST00000370867.3	+	6	746_747	c.657_658insA	c.(658-660)aaafs	p.K220fs	TYW3_ENST00000457880.2_Frame_Shift_Ins_p.K187fs|TYW3_ENST00000479111.1_Frame_Shift_Ins_p.K100fs|TYW3_ENST00000467646.1_3'UTR|TYW3_ENST00000421739.2_Frame_Shift_Ins_p.K136fs	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	220					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATATTCATAAGAAAAAAAGAAA	0.342																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.664dupA	1.37:g.75229681_75229681dupA	ENSP00000359904:p.Lys220fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Frame_Shift_Ins	INS	pfam_tRNA_yW-synthesising,superfamily_tRNA_yW-synthesising	p.R221fs	ENST00000370867.3	37	c.657_658	CCDS666.1	1																																																																																			TYW3	-	NULL	ENSG00000162623		0.342	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYW3	HGNC	protein_coding	OTTHUMT00000026573.1	303	0.33	1	-	NM_138467		75229674	75229675	+1	no_errors	ENST00000370867	ensembl	human	known	69_37n	frame_shift_ins	129	18.35	29	INS	0.931:0.921	A
UACA	55075	genome.wustl.edu	37	15	70960319	70960319	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:70960319C>A	ENST00000322954.6	-	16	2889	c.2704G>T	c.(2704-2706)Gat>Tat	p.D902Y	UACA_ENST00000560441.1_Missense_Mutation_p.D887Y|UACA_ENST00000539319.1_Missense_Mutation_p.D793Y|UACA_ENST00000379983.2_Missense_Mutation_p.D889Y	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	902					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCATTCTTATCTTTTATTTTT	0.328																																						dbGAP											0													25.0	25.0	25.0					15																	70960319		2188	4291	6479	-	-	-	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2704G>T	15.37:g.70960319C>A	ENSP00000314556:p.Asp902Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.D902Y	ENST00000322954.6	37	c.2704	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	11.34	1.611069	0.28712	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.78816	-1.21;-1.21;-1.21	5.5	3.62	0.41486	.	0.585031	0.17102	N	0.186957	T	0.76321	0.3971	L	0.60455	1.87	0.09310	N	0.999999	P;B;P;P	0.36392	0.543;0.408;0.551;0.543	B;B;B;B	0.42555	0.391;0.219;0.219;0.391	T	0.68640	-0.5355	10	0.72032	D	0.01	-4.2569	8.9205	0.35607	0.0:0.7225:0.1361:0.1414	.	793;902;902;889	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	Y	902;889;793	ENSP00000314556:D902Y;ENSP00000369319:D889Y;ENSP00000438667:D793Y	ENSP00000314556:D902Y	D	-	1	0	UACA	68747373	1.000000	0.71417	0.010000	0.14722	0.538000	0.34931	3.653000	0.54446	0.798000	0.33994	0.655000	0.94253	GAT	UACA	-	superfamily_Prefoldin	ENSG00000137831		0.328	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	155	0.00	0	C			70960319	70960319	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	missense	82	23.85	26	SNP	0.143	A
UACA	55075	genome.wustl.edu	37	15	70960615	70960615	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:70960615A>C	ENST00000322954.6	-	16	2593	c.2408T>G	c.(2407-2409)tTt>tGt	p.F803C	UACA_ENST00000560441.1_Missense_Mutation_p.F788C|UACA_ENST00000539319.1_Missense_Mutation_p.F694C|UACA_ENST00000379983.2_Missense_Mutation_p.F790C	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	803					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGGAGGTACAAACACAGTTTC	0.343																																						dbGAP											0													85.0	85.0	85.0					15																	70960615		2198	4296	6494	-	-	-	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2408T>G	15.37:g.70960615A>C	ENSP00000314556:p.Phe803Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.F803C	ENST00000322954.6	37	c.2408	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244602	0.39697	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.35421	1.31;1.32;1.79	5.65	-0.375	0.12509	.	0.291406	0.29940	N	0.010801	T	0.35537	0.0935	L	0.44542	1.39	0.09310	N	1	D;D;D;D	0.61697	0.99;0.983;0.99;0.99	P;P;P;P	0.58970	0.789;0.619;0.619;0.849	T	0.15178	-1.0446	10	0.49607	T	0.09	-8.9973	1.304	0.02085	0.2962:0.2185:0.0833:0.402	.	694;803;803;790	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	C	803;790;694	ENSP00000314556:F803C;ENSP00000369319:F790C;ENSP00000438667:F694C	ENSP00000314556:F803C	F	-	2	0	UACA	68747669	0.011000	0.17503	0.114000	0.21550	0.758000	0.43043	0.667000	0.25112	0.126000	0.18424	0.533000	0.62120	TTT	UACA	-	NULL	ENSG00000137831		0.343	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	341	0.00	0	A			70960615	70960615	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	missense	248	17.06	51	SNP	0.004	C
UAP1	6675	genome.wustl.edu	37	1	162557426	162557426	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:162557426C>A	ENST00000367925.1	+	5	1028	c.996C>A	c.(994-996)ttC>ttA	p.F332L	UAP1_ENST00000367926.4_Missense_Mutation_p.F332L|UAP1_ENST00000271469.3_Missense_Mutation_p.F332L|UAP1_ENST00000367924.1_Missense_Mutation_p.F332L			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	332					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CCAACCATTTCTTCACTGTAC	0.423																																						dbGAP											0													155.0	159.0	158.0					1																	162557426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.996C>A	1.37:g.162557426C>A	ENSP00000356902:p.Phe332Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	pfam_UDPGP_trans	p.F332L	ENST00000367925.1	37	c.996		1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607242	0.66558	.	.	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.23	5.23	0.72850	.	0.185507	0.64402	D	0.000015	T	0.09862	0.0242	L	0.45051	1.395	0.54753	D	0.999985	B	0.28082	0.2	B	0.27170	0.077	T	0.06285	-1.0835	9	0.59425	D	0.04	-8.391	11.0237	0.47732	0.0:0.9148:0.0:0.0852	.	332	Q16222-2	.	L	332	ENSP00000356903:F332L;ENSP00000271469:F332L;ENSP00000356902:F332L;ENSP00000356901:F332L	ENSP00000271469:F332L	F	+	3	2	UAP1	160824050	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.523000	0.67099	2.713000	0.92767	0.591000	0.81541	TTC	UAP1	-	pfam_UDPGP_trans	ENSG00000117143		0.423	UAP1-002	KNOWN	basic	protein_coding	UAP1	HGNC	protein_coding	OTTHUMT00000083203.1	265	0.00	0	C	NM_003115		162557426	162557426	+1	no_errors	ENST00000271469	ensembl	human	known	69_37n	missense	229	11.58	30	SNP	1.000	A
UBA1	7317	genome.wustl.edu	37	X	47072430	47072430	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47072430G>A	ENST00000335972.6	+	23	2871	c.2688G>A	c.(2686-2688)acG>acA	p.T896T	UBA1_ENST00000377351.4_Silent_p.T896T|UBA1_ENST00000377269.3_Silent_p.T344T	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	896					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.T896T(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCATTGCCACGACCACAGCAG	0.527																																						dbGAP											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											93.0	71.0	78.0					X																	47072430		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2688G>A	X.37:g.47072430G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.T896	ENST00000335972.6	37	c.2688	CCDS14275.1	X																																																																																			UBA1	-	pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.527	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	93	0.00	0	G	NM_003334		47072430	47072430	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	silent	67	14.10	11	SNP	0.292	A
UBA1	7317	genome.wustl.edu	37	X	47073738	47073738	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47073738G>A	ENST00000335972.6	+	24	3034	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	UBA1_ENST00000377351.4_Missense_Mutation_p.E951K|UBA1_ENST00000377269.3_Missense_Mutation_p.E399K	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	951					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATAACCAAGAGTGGACATT	0.527																																						dbGAP											0													152.0	123.0	133.0					X																	47073738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2851G>A	X.37:g.47073738G>A	ENSP00000338413:p.Glu951Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.E951K	ENST00000335972.6	37	c.2851	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403148	0.62288	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.45276	0.9;0.9;1.47	5.12	5.12	0.69794	Ubiquitin-activating enzyme e1, C-terminal (1);	0.221217	0.45867	D	0.000340	T	0.47710	0.1460	L	0.58969	1.84	0.80722	D	1	B;B	0.24675	0.109;0.016	B;B	0.39935	0.314;0.094	T	0.38023	-0.9680	10	0.12103	T	0.63	-16.4619	16.6647	0.85249	0.0:0.0:1.0:0.0	.	399;951	Q5JRR6;P22314	.;UBA1_HUMAN	K	951;951;399	ENSP00000366568:E951K;ENSP00000338413:E951K;ENSP00000366481:E399K	ENSP00000338413:E951K	E	+	1	0	UBA1	46958682	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	9.094000	0.94168	2.280000	0.76307	0.529000	0.55759	GAG	UBA1	-	pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.527	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	220	0.00	0	G	NM_003334		47073738	47073738	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	missense	199	11.56	26	SNP	0.999	A
UBA2	10054	genome.wustl.edu	37	19	34929616	34929616	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:34929616C>T	ENST00000246548.4	+	6	596	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	UBA2_ENST00000439527.2_Missense_Mutation_p.R80C	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	176					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGTACAATTCGTAACACACC	0.423																																						dbGAP											0													234.0	209.0	218.0					19																	34929616		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.526C>T	19.37:g.34929616C>T	ENSP00000246548:p.Arg176Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.R176C	ENST00000246548.4	37	c.526	CCDS12439.1	19	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187264	0.78789	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.33216	1.42;1.42	5.39	5.39	0.77823	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-activating enzyme (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80612	-0.1305	10	0.87932	D	0	-10.9561	17.929	0.88992	0.0:1.0:0.0:0.0	.	176	Q9UBT2	SAE2_HUMAN	C	49;176;80	ENSP00000246548:R176C;ENSP00000437484:R80C	ENSP00000246548:R176C	R	+	1	0	UBA2	39621456	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.497000	0.60367	2.520000	0.84964	0.555000	0.69702	CGT	UBA2	-	pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000126261		0.423	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA2	HGNC	protein_coding	OTTHUMT00000459257.3	329	0.00	0	C	NM_005499		34929616	34929616	+1	no_errors	ENST00000246548	ensembl	human	known	69_37n	missense	313	14.95	55	SNP	1.000	T
UBE2D1	7321	genome.wustl.edu	37	10	60127761	60127761	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:60127761A>C	ENST00000373910.4	+	6	610	c.383A>C	c.(382-384)aAa>aCa	p.K128T		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CAAATCTATAAATCAGACAAA	0.294																																						dbGAP											0													163.0	149.0	153.0					10																	60127761		2203	4293	6496	-	-	-	SO:0001583	missense	0			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.383A>C	10.37:g.60127761A>C	ENSP00000363019:p.Lys128Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLF6|A8K786	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K128T	ENST00000373910.4	37	c.383	CCDS7252.1	10	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481488	0.63849	.	.	ENSG00000072401	ENST00000373910	T	0.39229	1.09	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	M	0.64260	1.97	0.80722	D	1	B	0.27498	0.18	B	0.33295	0.161	T	0.47114	-0.9142	10	0.72032	D	0.01	.	13.9482	0.64099	1.0:0.0:0.0:0.0	.	128	P51668	UB2D1_HUMAN	T	128	ENSP00000363019:K128T	ENSP00000363019:K128T	K	+	2	0	UBE2D1	59797767	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.165000	0.94761	2.180000	0.69256	0.459000	0.35465	AAA	UBE2D1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000072401		0.294	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D1	HGNC	protein_coding	OTTHUMT00000048143.2	488	0.00	0	A	NM_003338		60127761	60127761	+1	no_errors	ENST00000373910	ensembl	human	known	69_37n	missense	299	25.44	102	SNP	1.000	C
UBE2D3	7323	genome.wustl.edu	37	4	103720655	103720655	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:103720655G>T	ENST00000453744.2	-	7	820	c.307C>A	c.(307-309)Ctt>Att	p.L103I	UBE2D3_ENST00000394803.5_Missense_Mutation_p.L103I|UBE2D3_ENST00000394804.2_Missense_Mutation_p.L103I|UBE2D3_ENST00000505207.1_Missense_Mutation_p.L74I|UBE2D3_ENST00000343106.5_Missense_Mutation_p.L103I|UBE2D3_ENST00000338145.3_Missense_Mutation_p.L103I|UBE2D3_ENST00000350435.7_Missense_Mutation_p.L97I|UBE2D3_ENST00000357194.6_Missense_Mutation_p.L105I|UBE2D3_ENST00000321805.7_Missense_Mutation_p.L103I|UBE2D3_ENST00000394801.4_Missense_Mutation_p.L103I|UBE2D3_ENST00000504211.1_Missense_Mutation_p.L74I|UBE2D3_ENST00000349311.8_Missense_Mutation_p.L103I|UBE2D3_ENST00000507845.1_Missense_Mutation_p.L74I|UBE2D3_ENST00000502404.1_Missense_Mutation_p.L74I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	103					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		ATGGATAAAAGAACTGCAAGA	0.363																																						dbGAP											0													46.0	47.0	46.0					4																	103720655		2203	4299	6502	-	-	-	SO:0001583	missense	0			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"""Ubiquitin-conjugating enzymes E2"""	12476	protein-coding gene	gene with protein product		602963	"""ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.307C>A	4.37:g.103720655G>T	ENSP00000396901:p.Leu103Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L105I	ENST00000453744.2	37	c.313	CCDS3660.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.474867	0.96291	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.89	5.89	0.94794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.056892	0.64402	D	0.000001	D	0.90909	0.7143	M	0.76002	2.32	0.80722	D	1	B;B;B	0.33120	0.398;0.038;0.155	P;P;P	0.59221	0.705;0.854;0.587	D	0.89465	0.3739	10	0.87932	D	0	.	20.2361	0.98357	0.0:0.0:1.0:0.0	.	105;103;103	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	I	103;103;103;103;103;103;97;103;103;74;105;74;74;74	ENSP00000396901:L103I;ENSP00000378280:L103I;ENSP00000378282:L103I;ENSP00000378283:L103I;ENSP00000345285:L103I;ENSP00000318494:L103I;ENSP00000337262:L97I;ENSP00000337208:L103I;ENSP00000344069:L103I;ENSP00000426620:L74I;ENSP00000349722:L105I;ENSP00000426586:L74I;ENSP00000424359:L74I;ENSP00000421904:L74I	ENSP00000318494:L103I	L	-	1	0	UBE2D3	103939767	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.611000	0.98342	2.791000	0.96007	0.591000	0.81541	CTT	UBE2D3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000109332		0.363	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000253791.2	203	0.00	0	G	NM_181893		103720655	103720655	-1	no_errors	ENST00000357194	ensembl	human	known	69_37n	missense	98	14.04	16	SNP	1.000	T
UBE2L3	7332	genome.wustl.edu	37	22	21947188	21947188	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:21947188C>A	ENST00000342192.4	+	2	264	c.66C>A	c.(64-66)ttC>ttA	p.F22L	UBE2L3_ENST00000458578.2_Missense_Mutation_p.F80L|UBE2L3_ENST00000545681.1_Intron	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	22					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					TGAAAAACTTCCGTAACATCC	0.398																																						dbGAP											0													113.0	91.0	99.0					22																	21947188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.66C>A	22.37:g.21947188C>A	ENSP00000344259:p.Phe22Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.F80L	ENST00000342192.4	37	c.240	CCDS13790.1	22	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705538	0.68615	.	.	ENSG00000185651	ENST00000458578;ENST00000342192	T;T	0.71698	-0.59;-0.59	5.63	5.63	0.86233	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.058595	0.64402	D	0.000002	T	0.62962	0.2471	L	0.28192	0.835	0.80722	D	1	B;B	0.20261	0.021;0.043	B;B	0.25405	0.044;0.06	T	0.60454	-0.7260	10	0.72032	D	0.01	.	17.5362	0.87832	0.0:1.0:0.0:0.0	.	22;22	P68036;A8K4W8	UB2L3_HUMAN;.	L	80;22	ENSP00000400906:F80L;ENSP00000344259:F22L	ENSP00000344259:F22L	F	+	3	2	UBE2L3	20277188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.815000	0.96918	0.561000	0.74099	TTC	UBE2L3	-	pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000185651		0.398	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L3	HGNC	protein_coding	OTTHUMT00000320219.1	480	0.00	0	C	NM_198157		21947188	21947188	+1	no_errors	ENST00000458578	ensembl	human	known	69_37n	missense	433	15.26	78	SNP	1.000	A
UBE2Q1	55585	genome.wustl.edu	37	1	154524926	154524926	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:154524926C>T	ENST00000292211.4	-	7	908	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	277					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.E277K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCACGAGTTCGACTGCATAG	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											134.0	129.0	131.0					1																	154524926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.829G>A	1.37:g.154524926C>T	ENSP00000292211:p.Glu277Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E277K	ENST00000292211.4	37	c.829	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.137618	0.94517	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.71	3.83	0.44106	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.87617	2.895	0.53688	D	0.999971	D	0.65815	0.995	P	0.50537	0.643	T	0.69514	-0.5125	9	0.87932	D	0	-15.0902	10.9096	0.47101	0.0:0.8469:0.0:0.1531	.	277	Q7Z7E8	UB2Q1_HUMAN	K	277	.	ENSP00000292211:E277K	E	-	1	0	UBE2Q1	152791550	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.926000	0.56491	1.421000	0.47157	0.563000	0.77884	GAA	UBE2Q1	-	superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000160714		0.498	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	199	0.00	0	C	NM_017582		154524926	154524926	-1	no_errors	ENST00000292211	ensembl	human	known	69_37n	missense	130	12.75	19	SNP	1.000	T
UBE2Q2	92912	genome.wustl.edu	37	15	76136685	76136685	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:76136685G>T	ENST00000267938.4	+	1	562				UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000561851.1_5'UTR|UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000338677.4_Intron	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						CGTTTAAGGAGAAACTGACAA	0.502																																						dbGAP											0													83.0	77.0	78.0					15																	76136685		686	1585	2271	-	-	-	SO:0001627	intron_variant	0			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.180+498G>T	15.37:g.76136685G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	RNA	SNP	-	NULL	ENST00000267938.4	37	NULL	CCDS10286.1	15																																																																																			UBE2Q2	-	-	ENSG00000140367		0.502	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	193	0.00	0	G	NM_173469		76136685	76136685	+1	no_errors	ENST00000562635	ensembl	human	known	69_37n	rna	87	25.64	30	SNP	0.000	T
UBE2Z	65264	genome.wustl.edu	37	17	46990262	46990262	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:46990262C>T	ENST00000360943.5	+	3	592	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	153					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										GTTCGTGTTTCGGTGTCCGCC	0.483																																						dbGAP											0													185.0	179.0	181.0					17																	46990262		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"""Ubiquitin-conjugating enzymes E2"""	25847	protein-coding gene	gene with protein product	"""UBA6-specific enzyme E2"""	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.457C>T	17.37:g.46990262C>T	ENSP00000354201:p.Arg153Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R153W	ENST00000360943.5	37	c.457	CCDS11540.2	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727090	0.89390	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.38401	1.14	5.99	5.99	0.97316	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.59436	1.845	0.80722	D	1	P	0.40834	0.73	B	0.34779	0.189	T	0.15723	-1.0427	10	0.38643	T	0.18	-12.6168	20.0728	0.97731	0.0:1.0:0.0:0.0	.	153	Q9H832	UBE2Z_HUMAN	W	153;86	ENSP00000354201:R153W	ENSP00000354201:R153W	R	+	1	2	UBE2Z	44345261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.746000	0.85057	2.840000	0.97914	0.655000	0.94253	CGG	UBE2Z	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000159202		0.483	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Z	HGNC	protein_coding	OTTHUMT00000318724.2	112	0.00	0	C	NM_023079		46990262	46990262	+1	no_errors	ENST00000360943	ensembl	human	known	69_37n	missense	70	30.77	32	SNP	1.000	T
UBE3A	7337	genome.wustl.edu	37	15	25616214	25616214	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:25616214C>T	ENST00000397954.2	-	4	1115	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	UBE3A_ENST00000232165.3_Silent_p.S369S|UBE3A_ENST00000438097.1_Silent_p.S349S|UBE3A_ENST00000428984.2_Silent_p.S349S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.S349S			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	372			S -> P. {ECO:0000269|PubMed:9585605}.		androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TCAAGCACTTCGAAGCAGCAA	0.398																																						dbGAP											0													115.0	111.0	112.0					15																	25616214		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1116G>A	15.37:g.25616214C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.S372	ENST00000397954.2	37	c.1116	CCDS45192.1	15																																																																																			UBE3A	-	pirsf_Ubiquitin-protein_ligase_E6-AP	ENSG00000114062		0.398	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	84	0.00	0	C	NM_000462		25616214	25616214	-1	no_errors	ENST00000397954	ensembl	human	known	69_37n	silent	77	14.29	13	SNP	0.748	T
UBE3C	9690	genome.wustl.edu	37	7	156956529	156956529	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:156956529G>A	ENST00000348165.5	+	2	452	c.92G>A	c.(91-93)cGt>cAt	p.R31H	UBE3C_ENST00000389103.4_Intron	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	31	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTTTTACATCGTACTCAGGAA	0.323																																						dbGAP											0													101.0	101.0	101.0					7																	156956529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.92G>A	7.37:g.156956529G>A	ENSP00000309198:p.Arg31His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.R31H	ENST00000348165.5	37	c.92	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045905	0.75846	.	.	ENSG00000009335	ENST00000348165	T	0.47869	0.83	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.31664	0.95	0.80722	D	1	P;D	0.62365	0.689;0.991	B;P	0.52424	0.074;0.698	T	0.28933	-1.0028	10	0.21540	T	0.41	-17.1583	17.1181	0.86694	0.0:0.0:1.0:0.0	.	31;31	Q15386;Q15386-2	UBE3C_HUMAN;.	H	31	ENSP00000309198:R31H	ENSP00000309198:R31H	R	+	2	0	UBE3C	156649290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.144000	0.77357	2.397000	0.81536	0.585000	0.79938	CGT	UBE3C	-	NULL	ENSG00000009335		0.323	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	514	0.00	0	G	NM_014671		156956529	156956529	+1	no_errors	ENST00000348165	ensembl	human	known	69_37n	missense	454	13.36	70	SNP	1.000	A
UBE4A	9354	genome.wustl.edu	37	11	118242316	118242316	+	Nonsense_Mutation	SNP	C	C	T	rs187566811		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:118242316C>T	ENST00000431736.2	+	5	568	c.496C>T	c.(496-498)Cga>Tga	p.R166*	UBE4A_ENST00000252108.3_Nonsense_Mutation_p.R166*					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTCTGCTGATCGAGATGCAGG	0.418																																						dbGAP											0													149.0	138.0	141.0					11																	118242316		2200	4296	6496	-	-	-	SO:0001587	stop_gained	0			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.496C>T	11.37:g.118242316C>T	ENSP00000387362:p.Arg166*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R166*	ENST00000431736.2	37	c.496	CCDS8396.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.427732	0.97559	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	.	.	.	5.67	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-6.0876	13.2166	0.59863	0.4108:0.5892:0.0:0.0	.	.	.	.	X	166	.	ENSP00000252108:R166X	R	+	1	2	UBE4A	117747526	0.978000	0.34361	1.000000	0.80357	0.999000	0.98932	1.777000	0.38604	1.357000	0.45904	0.655000	0.94253	CGA	UBE4A	-	NULL	ENSG00000110344		0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBE4A	HGNC	protein_coding	OTTHUMT00000398143.1	283	0.00	0	C	NM_004788		118242316	118242316	+1	no_errors	ENST00000431736	ensembl	human	known	69_37n	nonsense	257	15.46	47	SNP	1.000	T
UBE4B	10277	genome.wustl.edu	37	1	10197233	10197233	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:10197233G>A	ENST00000253251.8	+	16	2785	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	UBE4B_ENST00000377157.3_Missense_Mutation_p.R533H|UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGCTATATCCGCAGACTCCGG	0.527																																						dbGAP											0													152.0	135.0	141.0					1																	10197233		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1946G>A	1.37:g.10197233G>A	ENSP00000253251:p.Arg649His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R778H	ENST00000253251.8	37	c.2333	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.802372	0.96960	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.74	5.71	5.71	0.89125	Ubiquitin conjugation factor E4, core (1);	0.046315	0.85682	D	0.000000	T	0.64494	0.2603	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.73380	0.91;0.98;0.855	T	0.62416	-0.6859	10	0.51188	T	0.08	-13.4016	19.8673	0.96808	0.0:0.0:1.0:0.0	.	649;778;649	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	H	649;533;778	ENSP00000253251:R649H;ENSP00000366362:R533H;ENSP00000343001:R778H	ENSP00000253251:R649H	R	+	2	0	UBE4B	10119820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.806000	0.99153	2.709000	0.92574	0.655000	0.94253	CGC	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.527	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	232	0.43	1	G	NM_006048		10197233	10197233	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	missense	107	25.69	37	SNP	1.000	A
UBN2	254048	genome.wustl.edu	37	7	138946473	138946473	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:138946473G>A	ENST00000473989.3	+	6	1381	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	UBN2_ENST00000288561.8_Missense_Mutation_p.E378K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	461						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAAACGTATCGAAGACCTTCG	0.388																																						dbGAP											0													38.0	36.0	36.0					7																	138946473		1870	4100	5970	-	-	-	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1381G>A	7.37:g.138946473G>A	ENSP00000418648:p.Glu461Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.E461K	ENST00000473989.3	37	c.1381	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807910	0.50421	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.42900	0.96;0.96	6.08	6.08	0.98989	.	0.103857	0.64402	D	0.000003	T	0.28699	0.0711	N	0.25286	0.73	0.45979	D	0.998793	P	0.38582	0.638	B	0.25140	0.058	T	0.04796	-1.0926	9	.	.	.	-18.0609	20.6634	0.99662	0.0:0.0:1.0:0.0	.	461	Q6ZU65	UBN2_HUMAN	K	461;378	ENSP00000418648:E461K;ENSP00000288561:E378K	.	E	+	1	0	UBN2	138597013	1.000000	0.71417	0.982000	0.44146	0.959000	0.62525	6.288000	0.72679	2.894000	0.99253	0.655000	0.94253	GAA	UBN2	-	NULL	ENSG00000157741		0.388	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	51	0.00	0	G	NM_173569		138946473	138946473	+1	no_errors	ENST00000473989	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	1.000	A
UBQLN2	29978	genome.wustl.edu	37	X	56591370	56591370	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:56591370C>A	ENST00000338222.5	+	1	1345	c.1064C>A	c.(1063-1065)gCt>gAt	p.A355D		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	355					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AACACCGTTGCTGCCGCTAAT	0.532																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	dbGAP											0													54.0	37.0	43.0					X																	56591370		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1064C>A	X.37:g.56591370C>A	ENSP00000345195:p.Ala355Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.A355D	ENST00000338222.5	37	c.1064	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576488	0.13686	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.86366	-2.11	4.74	4.74	0.60224	.	0.078555	0.52532	D	0.000078	D	0.83133	0.5188	L	0.29908	0.895	0.37627	D	0.921547	P;P	0.47409	0.839;0.895	B;P	0.50860	0.218;0.652	T	0.80527	-0.1343	10	0.12430	T	0.62	-8.452	12.1167	0.53870	0.0:1.0:0.0:0.0	.	355;355	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	D	355	ENSP00000345195:A355D	ENSP00000345195:A355D	A	+	2	0	UBQLN2	56608095	0.858000	0.29795	1.000000	0.80357	0.844000	0.47949	1.408000	0.34668	2.349000	0.79799	0.600000	0.82982	GCT	UBQLN2	-	NULL	ENSG00000188021		0.532	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	76	0.00	0	C	NM_013444		56591370	56591370	+1	no_errors	ENST00000338222	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.996	A
UBQLN4	56893	genome.wustl.edu	37	1	156012655	156012655	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:156012655C>A	ENST00000368309.3	-	7	1268	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D		NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	392					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GCTGGGGGTTCTCAGAGATCT	0.517																																						dbGAP											0													64.0	62.0	63.0					1																	156012655		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.1176G>T	1.37:g.156012655C>A	ENSP00000357292:p.Glu392Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.E392D	ENST00000368309.3	37	c.1176	CCDS1127.1	1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167112	0.38217	.	.	ENSG00000160803	ENST00000368309	T	0.56611	0.45	4.64	1.72	0.24424	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	N	0.25201	0.72	0.80722	D	1	B;B	0.31599	0.33;0.089	B;B	0.29942	0.084;0.109	T	0.04621	-1.0938	10	0.22706	T	0.39	-19.4297	6.7792	0.23636	0.0:0.5059:0.0:0.494	.	372;392	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	D	392	ENSP00000357292:E392D	ENSP00000357292:E392D	E	-	3	2	UBQLN4	154279279	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.590000	0.23954	0.183000	0.20059	0.655000	0.94253	GAG	UBQLN4	-	NULL	ENSG00000160803		0.517	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	346	0.00	0	C	NM_020131		156012655	156012655	-1	no_errors	ENST00000368309	ensembl	human	known	69_37n	missense	253	14.24	42	SNP	1.000	A
UBR1	197131	genome.wustl.edu	37	15	43348619	43348619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:43348619C>A	ENST00000290650.4	-	11	1282	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.E402*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	402					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTGATATATTCTTTCTGCAGT	0.294																																						dbGAP											0													89.0	94.0	92.0					15																	43348619		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1204G>T	15.37:g.43348619C>A	ENSP00000290650:p.Glu402*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E402*	ENST00000290650.4	37	c.1204	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.379985	0.97520	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	.	.	.	5.14	5.14	0.70334	.	0.214084	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.0573	18.7978	0.92003	0.0:1.0:0.0:0.0	.	.	.	.	X	402	.	ENSP00000290650:E402X	E	-	1	0	UBR1	41135911	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	5.441000	0.66569	2.675000	0.91044	0.650000	0.86243	GAA	UBR1	-	NULL	ENSG00000159459		0.294	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	277	0.00	0	C	NM_174916		43348619	43348619	-1	no_errors	ENST00000290650	ensembl	human	known	69_37n	nonsense	218	14.51	37	SNP	1.000	A
UBR3	130507	genome.wustl.edu	37	2	170806214	170806214	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:170806214C>T	ENST00000272793.5	+	23	3234	c.3184C>T	c.(3184-3186)Cgt>Tgt	p.R1062C	UBR3_ENST00000418381.1_Missense_Mutation_p.R1062C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1062					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1062G(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCAGGTGGTTCGTCCCAAAAC	0.383																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											96.0	80.0	85.0					2																	170806214		692	1591	2283	-	-	-	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3184C>T	2.37:g.170806214C>T	ENSP00000272793:p.Arg1062Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1062C	ENST00000272793.5	37	c.3184		2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002298	0.74932	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.57436	0.4;0.4	5.32	5.32	0.75619	.	.	.	.	.	T	0.66538	0.2799	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68584	-0.5370	9	0.66056	D	0.02	.	19.0002	0.92830	0.0:1.0:0.0:0.0	.	1062	Q6ZT12	UBR3_HUMAN	C	1062	ENSP00000272793:R1062C;ENSP00000396068:R1062C	ENSP00000272793:R1062C	R	+	1	0	UBR3	170514460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.102000	0.71486	2.502000	0.84385	0.650000	0.86243	CGT	UBR3	-	NULL	ENSG00000144357		0.383	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	153	0.00	0	C	NM_172070		170806214	170806214	+1	no_errors	ENST00000272793	ensembl	human	known	69_37n	missense	102	26.62	37	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19479819	19479819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19479819G>A	ENST00000375254.3	-	46	6835	c.6808C>T	c.(6808-6810)Cga>Tga	p.R2270*	UBR4_ENST00000375267.2_Nonsense_Mutation_p.R2270*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2270*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2270*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2270					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGCGCTTTCGAACAGGCTTC	0.517																																						dbGAP											0													157.0	130.0	140.0					1																	19479819		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6808C>T	1.37:g.19479819G>A	ENSP00000364403:p.Arg2270*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R2270*	ENST00000375254.3	37	c.6808	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	48	14.187034	0.99783	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.78	0.91928	0.0:0.0:1.0:0.0	.	.	.	.	X	2270;2270;2270;2270;980;1487	.	ENSP00000364365:R2270X	R	-	1	2	UBR4	19352406	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	7.173000	0.77612	2.672000	0.90937	0.591000	0.81541	CGA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	163	0.00	0	G	NM_020765		19479819	19479819	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	nonsense	100	16.67	20	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19491457	19491457	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19491457G>T	ENST00000375254.3	-	32	4374	c.4347C>A	c.(4345-4347)ctC>ctA	p.L1449L	UBR4_ENST00000375267.2_Silent_p.L1449L|UBR4_ENST00000375226.2_Silent_p.L1449L|UBR4_ENST00000375217.2_Silent_p.L1449L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGAGCCACAGAGATGCAACA	0.572																																						dbGAP											0													43.0	43.0	43.0					1																	19491457		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4347C>A	1.37:g.19491457G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1449	ENST00000375254.3	37	c.4347	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.572	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	116	0.85	1	G	NM_020765		19491457	19491457	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	84	16.00	16	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19504042	19504042	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:19504042G>A	ENST00000375254.3	-	19	2577	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	UBR4_ENST00000375267.2_Silent_p.F850F|UBR4_ENST00000375226.2_Silent_p.F850F|UBR4_ENST00000375217.2_Silent_p.F850F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	850					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAAGCGGCACGAAGCGCATCT	0.493																																						dbGAP											0													138.0	129.0	132.0					1																	19504042		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2550C>T	1.37:g.19504042G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.F850	ENST00000375254.3	37	c.2550	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	226	0.00	0	G	NM_020765		19504042	19504042	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	142	16.96	29	SNP	0.150	A
UBR5	51366	genome.wustl.edu	37	8	103323670	103323670	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:103323670C>A	ENST00000520539.1	-	20	3079	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	UBR5_ENST00000521922.1_Missense_Mutation_p.D819Y|UBR5_ENST00000220959.4_Missense_Mutation_p.D825Y	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	825					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCATGCAATCTTTGGCCATT	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													122.0	121.0	121.0					8																	103323670		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2473G>T	8.37:g.103323670C>A	ENSP00000429084:p.Asp825Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.D825Y	ENST00000520539.1	37	c.2473	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988547	0.93106	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49720	0.77;0.77;0.77	5.67	5.67	0.87782	.	0.184814	0.48767	N	0.000168	T	0.69269	0.3092	M	0.66297	2.02	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.70920	-0.4741	10	0.87932	D	0	.	19.7693	0.96356	0.0:1.0:0.0:0.0	.	819;825	E7EMW7;O95071	.;UBR5_HUMAN	Y	825;825;819	ENSP00000429084:D825Y;ENSP00000220959:D825Y;ENSP00000427819:D819Y	ENSP00000220959:D825Y	D	-	1	0	UBR5	103392846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.669000	0.90835	0.561000	0.74099	GAT	UBR5	-	NULL	ENSG00000104517		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	129	0.77	1	C	NM_015902		103323670	103323670	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	missense	73	13.95	12	SNP	1.000	A
UBXN4	23190	genome.wustl.edu	37	2	136511807	136511807	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:136511807C>A	ENST00000272638.9	+	4	604	c.293C>A	c.(292-294)tCt>tAt	p.S98Y	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	98					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGAAGTGTTTCTGCAGATGAA	0.388																																						dbGAP											0													173.0	160.0	164.0					2																	136511807		1891	4129	6020	-	-	-	SO:0001583	missense	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.293C>A	2.37:g.136511807C>A	ENSP00000272638:p.Ser98Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.S98Y	ENST00000272638.9	37	c.293	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893022	0.91889	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.49139	0.79	5.71	5.71	0.89125	Thioredoxin-like fold (2);	0.172414	0.52532	D	0.000063	T	0.60025	0.2237	M	0.77313	2.365	0.58432	D	0.999999	P	0.52061	0.95	P	0.47645	0.553	T	0.66551	-0.5895	10	0.87932	D	0	.	18.6323	0.91364	0.0:1.0:0.0:0.0	.	98	Q92575	UBXN4_HUMAN	Y	98	ENSP00000272638:S98Y	ENSP00000272638:S98Y	S	+	2	0	UBXN4	136228277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.760000	0.74939	2.680000	0.91292	0.557000	0.71058	TCT	UBXN4	-	superfamily_Thioredoxin-like_fold	ENSG00000144224		0.388	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	180	0.00	0	C	NM_014607		136511807	136511807	+1	no_errors	ENST00000272638	ensembl	human	known	69_37n	missense	143	24.34	46	SNP	1.000	A
UCHL5	51377	genome.wustl.edu	37	1	193028399	193028399	+	5'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:193028399C>T	ENST00000367455.4	-	0	227				UCHL5_ENST00000367451.4_5'UTR|TROVE2_ENST00000367443.1_5'Flank|TROVE2_ENST00000416058.2_5'Flank|TROVE2_ENST00000367445.3_5'Flank|UCHL5_ENST00000483156.1_5'Flank|UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367448.1_5'UTR|snoU109_ENST00000458806.1_RNA|UCHL5_ENST00000367449.1_5'UTR|TROVE2_ENST00000367446.3_5'Flank|TROVE2_ENST00000400968.2_5'Flank|UCHL5_ENST00000530098.2_5'UTR|TROVE2_ENST00000367444.3_5'Flank|TROVE2_ENST00000432079.1_5'Flank|UCHL5_ENST00000367454.1_5'UTR	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						ATGGCCCTGGCCACACACCGC	0.657																																						dbGAP											0													37.0	37.0	37.0					1																	193028399		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.-9G>A	1.37:g.193028399C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	pfam_Peptidase_C12,pirsf_Ubiquitinyl_hydrolase_UCH37,prints_Peptidase_C12	p.A10T	ENST00000367455.4	37	c.28	CCDS1378.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036692	0.75617	.	.	ENSG00000116750	ENST00000367450	T	0.64991	-0.13	5.19	5.19	0.71726	.	0.709405	0.12128	N	0.497059	T	0.74854	0.3771	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71941	-0.4440	7	0.48119	T	0.1	-0.4567	16.6685	0.85259	0.0:1.0:0.0:0.0	.	.	.	.	T	10	ENSP00000356420:A10T	ENSP00000356420:A10T	A	-	1	0	UCHL5	191295022	0.990000	0.36364	0.998000	0.56505	0.921000	0.55340	1.767000	0.38501	2.702000	0.92279	0.655000	0.94253	GCC	UCHL5	-	NULL	ENSG00000116750		0.657	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UCHL5	HGNC	protein_coding	OTTHUMT00000086318.3	49	0.00	0	C	NM_015984		193028399	193028399	-1	no_start_codon	ENST00000367450	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.999	T
UCN2	90226	genome.wustl.edu	37	3	48600454	48600454	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:48600454G>A	ENST00000273610.3	-	2	186	c.104C>T	c.(103-105)tCt>tTt	p.S35F	COL7A1_ENST00000470076.1_5'Flank|PFKFB4_ENST00000536104.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	35					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTCTGGGGAGAATTCTGAGG	0.647																																						dbGAP											0													39.0	39.0	39.0					3																	48600454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"""Endogenous ligands"""	18414	protein-coding gene	gene with protein product	"""prepro-urocortin 2"""	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.104C>T	3.37:g.48600454G>A	ENSP00000273610:p.Ser35Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUG0	Missense_Mutation	SNP	pfam_Urocortin_II/III	p.S35F	ENST00000273610.3	37	c.104	CCDS2772.1	3	.	.	.	.	.	.	.	.	.	.	G	3.340	-0.134820	0.06711	.	.	ENSG00000145040	ENST00000273610	.	.	.	5.28	-10.6	0.00265	.	2.101310	0.02570	N	0.097730	T	0.10252	0.0251	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10291	-1.0636	9	0.08179	T	0.78	-2.7367	6.6169	0.22782	0.0969:0.2747:0.5245:0.1038	.	35	Q96RP3	UCN2_HUMAN	F	35	.	ENSP00000273610:S35F	S	-	2	0	UCN2	48575458	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.207000	0.03008	-2.403000	0.00577	-1.014000	0.02459	TCT	UCN2	-	NULL	ENSG00000145040		0.647	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCN2	HGNC	protein_coding	OTTHUMT00000257510.1	43	0.00	0	G	NM_033199		48600454	48600454	-1	no_errors	ENST00000273610	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	0.000	A
UEVLD	55293	genome.wustl.edu	37	11	18600314	18600314	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:18600314T>C	ENST00000541984.1	-	2	146	c.84A>G	c.(82-84)gtA>gtG	p.V28V	UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000535484.1_5'UTR|UEVLD_ENST00000320750.6_Silent_p.V28V|UEVLD_ENST00000396197.3_Silent_p.V28V|UEVLD_ENST00000379387.4_Silent_p.V28V|UEVLD_ENST00000300038.7_Silent_p.V28V|UEVLD_ENST00000543987.1_Silent_p.V28V	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AAAATACATTTACATTCCTTA	0.328																																						dbGAP											0													116.0	110.0	112.0					11																	18600314		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.84A>G	11.37:g.18600314T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.V28	ENST00000541984.1	37	c.84	CCDS58125.1	11																																																																																			UEVLD	-	pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000151116		0.328	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395928.1	137	0.00	0	T	NM_018314		18600314	18600314	-1	no_errors	ENST00000396197	ensembl	human	known	69_37n	silent	127	12.41	18	SNP	0.295	C
UFSP2	55325	genome.wustl.edu	37	4	186339818	186339818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:186339818C>T	ENST00000264689.6	-	3	305	c.189G>A	c.(187-189)tgG>tgA	p.W63*	UFSP2_ENST00000502282.1_5'UTR|Y_RNA_ENST00000384502.1_RNA	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	63						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CACTGCTAGGCCATATATACA	0.413																																						dbGAP											0													117.0	112.0	114.0					4																	186339818		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.189G>A	4.37:g.186339818C>T	ENSP00000264689:p.Trp63*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA77|Q96FS3	Nonsense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.W63*	ENST00000264689.6	37	c.189	CCDS3842.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.494954	0.97612	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5587	19.7885	0.96447	0.0:1.0:0.0:0.0	.	.	.	.	X	63;57	.	ENSP00000264689:W63X	W	-	3	0	UFSP2	186576812	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.419000	0.73345	2.779000	0.95612	0.591000	0.81541	TGG	UFSP2	-	NULL	ENSG00000109775		0.413	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	231	0.00	0	C	NM_018359		186339818	186339818	-1	no_errors	ENST00000264689	ensembl	human	known	69_37n	nonsense	149	11.31	19	SNP	1.000	T
UGCG	7357	genome.wustl.edu	37	9	114693582	114693582	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114693582G>C	ENST00000374279.3	+	7	1219	c.769G>C	c.(769-771)Gca>Cca	p.A257P	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	257					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CACTCAAGTTGCAATGCAAAA	0.338																																						dbGAP											0													101.0	100.0	100.0					9																	114693582		2202	4300	6502	-	-	-	SO:0001583	missense	0			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.769G>C	9.37:g.114693582G>C	ENSP00000363397:p.Ala257Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T258	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.A257P	ENST00000374279.3	37	c.769	CCDS6782.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.773816	0.96922	.	.	ENSG00000148154	ENST00000374279	T	0.59364	0.27	6.16	6.16	0.99307	.	0.044871	0.85682	D	0.000000	T	0.79387	0.4437	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77803	-0.2451	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	257	Q16739	CEGT_HUMAN	P	257	ENSP00000363397:A257P	ENSP00000363397:A257P	A	+	1	0	UGCG	113733403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.937000	0.99478	0.650000	0.86243	GCA	UGCG	-	NULL	ENSG00000148154		0.338	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCG	HGNC	protein_coding	OTTHUMT00000053661.1	217	0.00	0	G	NM_003358		114693582	114693582	+1	no_errors	ENST00000374279	ensembl	human	known	69_37n	missense	158	14.52	27	SNP	1.000	C
UGGT1	56886	genome.wustl.edu	37	2	128910422	128910422	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:128910422G>A	ENST00000259253.6	+	19	2128	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	UGGT1_ENST00000375990.3_Missense_Mutation_p.R670Q	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	694					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTTGTTCCACGAATCAATTCT	0.423																																						dbGAP											0													147.0	137.0	141.0					2																	128910422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2081G>A	2.37:g.128910422G>A	ENSP00000259253:p.Arg694Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.R694Q	ENST00000259253.6	37	c.2081	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.901858	0.97087	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.33216	1.42;1.42	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.972;0.984	T	0.61113	-0.7128	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	670;694	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	Q	670;694	ENSP00000365158:R670Q;ENSP00000259253:R694Q	.	R	+	2	0	UGGT1	128626892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.367000	0.97148	2.880000	0.98712	0.650000	0.86243	CGA	UGGT1	-	NULL	ENSG00000136731		0.423	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	197	0.00	0	G	NM_020120		128910422	128910422	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	188	17.90	41	SNP	1.000	A
UGGT1	56886	genome.wustl.edu	37	2	128930289	128930289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:128930289G>T	ENST00000259253.6	+	29	3294	c.3247G>T	c.(3247-3249)Gaa>Taa	p.E1083*	UGGT1_ENST00000375990.3_Nonsense_Mutation_p.E1059*	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1083					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGGATGGTAGAATCTGTCAG	0.363																																						dbGAP											0													98.0	96.0	97.0					2																	128930289		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3247G>T	2.37:g.128930289G>T	ENSP00000259253:p.Glu1083*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Nonsense_Mutation	SNP	pfam_UDP-g_GGtrans	p.E1083*	ENST00000259253.6	37	c.3247	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.526424	0.99195	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0749	0.97738	0.0:0.0:1.0:0.0	.	.	.	.	X	1059;1083	.	.	E	+	1	0	UGGT1	128646759	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.444000	0.97578	2.759000	0.94783	0.591000	0.81541	GAA	UGGT1	-	pfam_UDP-g_GGtrans	ENSG00000136731		0.363	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	232	0.00	0	G	NM_020120		128930289	128930289	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	nonsense	197	13.22	30	SNP	1.000	T
UGGT1	56886	genome.wustl.edu	37	2	128932423	128932423	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:128932423G>T	ENST00000259253.6	+	31	3577	c.3530G>T	c.(3529-3531)aGa>aTa	p.R1177I	UGGT1_ENST00000375990.3_Missense_Mutation_p.R1153I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1177					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATATTTATAGAATTTACAGG	0.428																																						dbGAP											0													100.0	107.0	105.0					2																	128932423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3530G>T	2.37:g.128932423G>T	ENSP00000259253:p.Arg1177Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.R1177I	ENST00000259253.6	37	c.3530	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049971	0.55218	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08370	3.1;3.1	6.01	6.01	0.97437	.	0.042253	0.85682	D	0.000000	T	0.10294	0.0252	L	0.48642	1.525	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.15292	-1.0442	9	.	.	.	.	15.9414	0.79756	0.0:0.1341:0.8659:0.0	.	1177	Q9NYU2	UGGG1_HUMAN	I	1153;1177	ENSP00000365158:R1153I;ENSP00000259253:R1177I	.	R	+	2	0	UGGT1	128648893	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	5.845000	0.69437	2.861000	0.98227	0.650000	0.86243	AGA	UGGT1	-	NULL	ENSG00000136731		0.428	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	266	0.00	0	G	NM_020120		128932423	128932423	+1	no_errors	ENST00000259253	ensembl	human	known	69_37n	missense	194	20.82	51	SNP	1.000	T
UGGT2	55757	genome.wustl.edu	37	13	96508474	96508474	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:96508474G>T	ENST00000376747.3	-	34	4016	c.3946C>A	c.(3946-3948)Ctt>Att	p.L1316I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1316	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCAAGGAAAAGAATTTTGTAA	0.373																																						dbGAP											0													118.0	123.0	121.0					13																	96508474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3946C>A	13.37:g.96508474G>T	ENSP00000365938:p.Leu1316Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.L1316I	ENST00000376747.3	37	c.3946	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036314	0.93630	.	.	ENSG00000102595	ENST00000376747	T	0.43688	0.94	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80728	-0.1253	10	0.87932	D	0	-17.1743	19.7613	0.96319	0.0:0.0:1.0:0.0	.	1316	Q9NYU1	UGGG2_HUMAN	I	1316	ENSP00000365938:L1316I	ENSP00000365938:L1316I	L	-	1	0	UGGT2	95306475	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.661000	0.90470	0.655000	0.94253	CTT	UGGT2	-	pfam_Glyco_trans_8	ENSG00000102595		0.373	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	411	0.00	0	G	NM_020121		96508474	96508474	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	265	12.83	39	SNP	1.000	T
UGGT2	55757	genome.wustl.edu	37	13	96577957	96577957	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:96577957G>T	ENST00000376747.3	-	20	2342	c.2272C>A	c.(2272-2274)Ctt>Att	p.L758I		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	758					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.L758delL(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCATTAAAAAGAAGTTTTCTC	0.294																																						dbGAP											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											65.0	71.0	69.0					13																	96577957		2203	4292	6495	-	-	-	SO:0001583	missense	0			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2272C>A	13.37:g.96577957G>T	ENSP00000365938:p.Leu758Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.L758I	ENST00000376747.3	37	c.2272	CCDS9480.1	13	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275069	0.59649	.	.	ENSG00000102595	ENST00000376747	T	0.10005	2.92	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	M	0.72118	2.19	0.80722	D	1	B	0.15719	0.014	B	0.18871	0.023	T	0.01432	-1.1356	10	0.62326	D	0.03	-23.5969	20.4549	0.99139	0.0:0.0:1.0:0.0	.	758	Q9NYU1	UGGG2_HUMAN	I	758	ENSP00000365938:L758I	ENSP00000365938:L758I	L	-	1	0	UGGT2	95375958	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	6.269000	0.72558	2.937000	0.99478	0.650000	0.86243	CTT	UGGT2	-	NULL	ENSG00000102595		0.294	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	148	0.00	0	G	NM_020121		96577957	96577957	-1	no_errors	ENST00000376747	ensembl	human	known	69_37n	missense	91	13.33	14	SNP	1.000	T
UGT1A3	54659	genome.wustl.edu	37	2	234638270	234638270	+	Silent	SNP	G	G	A	rs563451648		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:234638270G>A	ENST00000482026.1	+	1	517	c.498G>A	c.(496-498)tcG>tcA	p.S166S	UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Silent_p.S166S|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	166					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	AGTACCTGTCGATTCCTACTG	0.443																																						dbGAP											0													190.0	194.0	192.0					2																	234638270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.498G>A	2.37:g.234638270G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S166	ENST00000482026.1	37	c.498	CCDS2509.1	2																																																																																			UGT1A3	-	pfam_UDP_glucos_trans	ENSG00000243135		0.443	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	HGNC	protein_coding	OTTHUMT00000130983.1	392	0.00	0	G	NM_019093		234638270	234638270	+1	no_errors	ENST00000482026	ensembl	human	known	69_37n	silent	233	27.64	89	SNP	0.000	A
UGT1A1	54658	genome.wustl.edu	37	2	234669013	234669013	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:234669013C>A	ENST00000608383.1	+	1	80	c.80C>A	c.(79-81)gCt>gAt	p.A27D	UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.A27D|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.A27D|UGT1A1_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	27					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GTGTCCCATGCTGGGAAGATA	0.612																																						dbGAP											0													61.0	48.0	53.0					2																	234669013		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.80C>A	2.37:g.234669013C>A	ENSP00000476741:p.Ala27Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A27D	ENST00000608383.1	37	c.80	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769630	0.31320	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.61859	0.07;0.12	5.21	2.41	0.29592	.	.	.	.	.	T	0.71846	0.3388	M	0.73962	2.25	0.09310	N	1	D;P	0.54207	0.965;0.914	P;P	0.57468	0.821;0.548	T	0.66551	-0.5895	9	0.66056	D	0.02	.	15.9262	0.79618	0.0:0.6113:0.3886:0.0	.	27;27	A6NJC3;P22309	.;UD11_HUMAN	D	27	ENSP00000304845:A27D;ENSP00000353593:A27D	ENSP00000304845:A27D	A	+	2	0	UGT1A1	234333752	0.001000	0.12720	0.068000	0.19968	0.022000	0.10575	-0.385000	0.07379	0.442000	0.26555	0.650000	0.86243	GCT	UGT1A1	-	NULL	ENSG00000241635		0.612	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		93	0.00	0	C			234669013	234669013	+1	no_errors	ENST00000305208	ensembl	human	known	69_37n	missense	36	30.77	16	SNP	0.035	A
UGT1A9	54600	genome.wustl.edu	37	2	234580887	234580887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:234580887C>T	ENST00000354728.4	+	1	389	c.307C>T	c.(307-309)Cga>Tga	p.R103*	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.R103*|UGT1A10_ENST00000344644.5_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	103					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AGCACAAGTACGAAGTATATA	0.348																																						dbGAP											0													92.0	92.0	92.0					2																	234580887		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.307C>T	2.37:g.234580887C>T	ENSP00000346768:p.Arg103*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8K285|P36509|Q9HAX0	Nonsense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R103*	ENST00000354728.4	37	c.307	CCDS2505.1	2	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628426	0.67015	.	.	ENSG00000241119	ENST00000354728	.	.	.	3.45	-3.17	0.05202	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	2.3387	0.04254	0.2844:0.3357:0.2797:0.1002	.	.	.	.	X	103	.	ENSP00000346768:R103X	R	+	1	2	UGT1A9	234245626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.284000	0.01154	-0.856000	0.04120	-0.573000	0.04149	CGA	UGT1A9	-	pfam_UDP_glucos_trans	ENSG00000241119		0.348	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1	337	0.00	0	C	NM_021027		234580887	234580887	+1	no_errors	ENST00000354728	ensembl	human	known	69_37n	nonsense	260	27.98	101	SNP	0.000	T
UGT1A6	54578	genome.wustl.edu	37	2	234676536	234676536	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:234676536G>A	ENST00000305139.6	+	3	1174	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	UGT1A7_ENST00000373426.3_Silent_p.A343A|UGT1A1_ENST00000608381.1_Silent_p.A347A|UGT1A6_ENST00000406651.1_Silent_p.A78A|UGT1A1_ENST00000608383.1_Silent_p.A346A|UGT1A8_ENST00000305208.5_Silent_p.A346A|UGT1A10_ENST00000373445.1_Silent_p.A343A|UGT1A6_ENST00000373424.1_Silent_p.A78A|UGT1A1_ENST00000360418.3_Silent_p.A346A|UGT1A1_ENST00000373450.4_Silent_p.A343A|UGT1A3_ENST00000482026.1_Silent_p.A347A|UGT1A9_ENST00000354728.4_Silent_p.A343A|UGT1A1_ENST00000609767.1_Silent_p.A347A|UGT1A5_ENST00000373414.3_Silent_p.A347A|UGT1A4_ENST00000373409.3_Silent_p.A347A|UGT1A1_ENST00000609637.1_Silent_p.A343A|UGT1A10_ENST00000344644.5_Silent_p.A343A	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	345					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A343A(4)|p.A347A(3)|p.A346A(1)|p.A345A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CGAATCTTGCGAACAACACGA	0.438																																						dbGAP											9	Substitution - coding silent(9)	endometrium(9)											167.0	154.0	158.0					2																	234676536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1035G>A	2.37:g.234676536G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A347	ENST00000305139.6	37	c.1041	CCDS2507.1	2																																																																																			UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.438	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130988.1	434	0.00	0	G	NM_205862		234676536	234676536	+1	no_errors	ENST00000373409	ensembl	human	known	69_37n	silent	277	13.08	42	SNP	0.000	A
UGT2A1	10941	genome.wustl.edu	37	4	70505195	70505195	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:70505195C>A	ENST00000503640.1	-	1	771				UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R256I|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R55I|UGT2A1_ENST00000286604.4_Intron	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTGTGATTTCTTTGAATCAA	0.373																																						dbGAP											0													117.0	117.0	117.0					4																	70505195		1845	4087	5932	-	-	-	SO:0001627	intron_variant	0			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7452G>T	4.37:g.70505195C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R55I	ENST00000503640.1	37	c.164	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811783	0.70797	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.68479	-0.33;-0.33	5.85	5.01	0.66863	.	.	.	.	.	T	0.82208	0.4987	M	0.88377	2.95	.	.	.	D;D	0.89917	1.0;0.984	D;P	0.79784	0.993;0.809	D	0.88033	0.2776	8	0.87932	D	0	.	8.7764	0.34765	0.0:0.8318:0.0:0.1682	.	256;55	E9PDM7;Q9Y4X1-2	.;.	I	55;256	ENSP00000387888:R55I;ENSP00000425497:R256I	ENSP00000387888:R55I	R	-	2	0	UGT2A1	70539784	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.283000	0.51701	1.479000	0.48272	0.585000	0.79938	AGA	UGT2A1	-	pfam_UDP_glucos_trans	ENSG00000173610		0.373	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	421	0.00	0	C	NM_006798		70505195	70505195	-1	no_errors	ENST00000457664	ensembl	human	known	69_37n	missense	176	30.43	77	SNP	1.000	A
UGT2B15	7366	genome.wustl.edu	37	4	69519778	69519778	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:69519778C>A	ENST00000338206.5	-	5	1299	c.1290G>T	c.(1288-1290)ttG>ttT	p.L430F		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	430					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TGACTGACTTCAATGCATTGA	0.393																																						dbGAP											0													179.0	167.0	171.0					4																	69519778		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1290G>T	4.37:g.69519778C>A	ENSP00000341045:p.Leu430Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L430F	ENST00000338206.5	37	c.1290	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	7.582	0.668942	0.14776	.	.	ENSG00000196620	ENST00000338206	T	0.66995	-0.24	2.5	2.5	0.30297	.	0.475348	0.18011	U	0.154555	D	0.83308	0.5226	H	0.94183	3.505	0.24101	N	0.99587	D	0.89917	1.0	D	0.79784	0.993	T	0.71659	-0.4526	10	0.87932	D	0	.	6.583	0.22605	0.2854:0.7146:0.0:0.0	.	430	P54855	UDB15_HUMAN	F	430	ENSP00000341045:L430F	ENSP00000341045:L430F	L	-	3	2	UGT2B15	69202373	1.000000	0.71417	0.011000	0.14972	0.015000	0.08874	1.606000	0.36826	1.384000	0.46424	0.400000	0.26472	TTG	UGT2B15	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000196620		0.393	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	362	0.00	0	C	NM_001076		69519778	69519778	-1	no_errors	ENST00000338206	ensembl	human	known	69_37n	missense	211	18.22	47	SNP	0.802	A
UGT2A1	10941	genome.wustl.edu	37	4	70512677	70512677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:70512677G>T	ENST00000503640.1	-	1	741	c.686C>A	c.(685-687)tCa>tAa	p.S229*	UGT2A1_ENST00000512704.1_Nonsense_Mutation_p.S229*|UGT2A1_ENST00000514019.1_Nonsense_Mutation_p.S229*|UGT2A1_ENST00000286604.4_Nonsense_Mutation_p.S229*	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	229					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGAATCCCATGATTTCCAAAG	0.328																																						dbGAP											0													66.0	64.0	65.0					4																	70512677		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.686C>A	4.37:g.70512677G>T	ENSP00000424478:p.Ser229*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Nonsense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S229*	ENST00000503640.1	37	c.686	CCDS3529.1	4	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304245	0.40795	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	.	.	.	5.78	1.48	0.22813	.	1.472790	0.03938	N	0.286335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.9794	0.30175	0.0764:0.0:0.4406:0.483	.	.	.	.	X	229	.	ENSP00000286604:S229X	S	-	2	0	UGT2A1	70547266	0.020000	0.18652	0.001000	0.08648	0.091000	0.18340	2.043000	0.41231	0.229000	0.21039	-0.218000	0.12543	TCA	UGT2A1	-	pfam_UDP_glucos_trans	ENSG00000173610		0.328	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A1	HGNC	protein_coding	OTTHUMT00000251554.3	82	0.00	0	G	NM_006798		70512677	70512677	-1	no_errors	ENST00000503640	ensembl	human	known	69_37n	nonsense	42	10.64	5	SNP	0.000	T
UGT8	7368	genome.wustl.edu	37	4	115544340	115544340	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:115544340G>A	ENST00000310836.6	+	2	826	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	UGT8_ENST00000394511.3_Missense_Mutation_p.E102K	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	102					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)	p.E102K(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GACAGCAATCGAACTGTTTGA	0.463																																						dbGAP											3	Substitution - Missense(3)	large_intestine(3)											147.0	144.0	145.0					4																	115544340		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.304G>A	4.37:g.115544340G>A	ENSP00000311648:p.Glu102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU7|O00196	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E102K	ENST00000310836.6	37	c.304	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491704	0.84962	.	.	ENSG00000174607	ENST00000310836;ENST00000507710;ENST00000394511	T;T;T	0.07688	3.17;3.17;3.17	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.06917	0.0176	N	0.17594	0.5	0.80722	D	1	P	0.34837	0.472	B	0.34824	0.19	T	0.47381	-0.9122	10	0.15499	T	0.54	.	19.0796	0.93177	0.0:0.0:1.0:0.0	.	102	Q16880	CGT_HUMAN	K	102	ENSP00000311648:E102K;ENSP00000421446:E102K;ENSP00000378019:E102K	ENSP00000311648:E102K	E	+	1	0	UGT8	115763789	1.000000	0.71417	0.941000	0.38009	0.974000	0.67602	7.614000	0.82996	2.590000	0.87494	0.650000	0.86243	GAA	UGT8	-	pfam_UDP_glucos_trans	ENSG00000174607		0.463	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	162	0.00	0	G	NM_003360		115544340	115544340	+1	no_errors	ENST00000310836	ensembl	human	known	69_37n	missense	117	18.62	27	SNP	1.000	A
UGT8	7368	genome.wustl.edu	37	4	115597146	115597146	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:115597146G>A	ENST00000310836.6	+	6	1850	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	UGT8_ENST00000394511.3_Missense_Mutation_p.R443Q	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	443					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCTGTCAATCGAACTATCTAT	0.443																																						dbGAP											0													139.0	132.0	134.0					4																	115597146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1328G>A	4.37:g.115597146G>A	ENSP00000311648:p.Arg443Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU7|O00196	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R443Q	ENST00000310836.6	37	c.1328	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702741	0.88924	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.62364	0.03;0.03	5.77	4.93	0.64822	.	0.047674	0.85682	N	0.000000	T	0.69548	0.3123	M	0.64080	1.96	0.58432	D	0.999995	P	0.47762	0.9	P	0.51999	0.687	T	0.70494	-0.4856	10	0.44086	T	0.13	.	14.5764	0.68249	0.0699:0.0:0.9301:0.0	.	443	Q16880	CGT_HUMAN	Q	443	ENSP00000311648:R443Q;ENSP00000378019:R443Q	ENSP00000311648:R443Q	R	+	2	0	UGT8	115816595	1.000000	0.71417	0.893000	0.35052	0.979000	0.70002	9.435000	0.97529	1.442000	0.47568	0.561000	0.74099	CGA	UGT8	-	pfam_UDP_glucos_trans	ENSG00000174607		0.443	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	194	0.00	0	G	NM_003360		115597146	115597146	+1	no_errors	ENST00000310836	ensembl	human	known	69_37n	missense	116	15.83	22	SNP	1.000	A
UHRF1BP1	54887	genome.wustl.edu	37	6	34840165	34840165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:34840165G>T	ENST00000192788.5	+	21	4444	c.4273G>T	c.(4273-4275)Gaa>Taa	p.E1425*	UHRF1BP1_ENST00000452449.2_Intron	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1425							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCAGGATAAAGAAAAACTTCT	0.418																																						dbGAP											0													74.0	71.0	72.0					6																	34840165		1834	4092	5926	-	-	-	SO:0001587	stop_gained	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.4273G>T	6.37:g.34840165G>T	ENSP00000192788:p.Glu1425*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NXE0	Nonsense_Mutation	SNP	NULL	p.E1425*	ENST00000192788.5	37	c.4273	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.837181	0.99476	.	.	ENSG00000065060	ENST00000192788	.	.	.	6.08	6.08	0.98989	.	0.194913	0.44285	D	0.000471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.1661	13.065	0.59028	0.0732:0.0:0.9268:0.0	.	.	.	.	X	1425	.	ENSP00000192788:E1425X	E	+	1	0	UHRF1BP1	34948143	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.838000	0.48199	2.894000	0.99253	0.655000	0.94253	GAA	UHRF1BP1	-	NULL	ENSG00000065060		0.418	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	82	0.00	0	G	NM_017754		34840165	34840165	+1	no_errors	ENST00000192788	ensembl	human	known	69_37n	nonsense	94	17.54	20	SNP	0.994	T
ULK4	54986	genome.wustl.edu	37	3	41952879	41952879	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:41952879C>A	ENST00000301831.4	-	11	1478		c.e11-1		ULK4_ENST00000420927.1_Splice_Site	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4						cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTTGGATTTTCTGTAGCAGGA	0.358																																						dbGAP											0													83.0	77.0	79.0					3																	41952879		1830	4085	5915	-	-	-	SO:0001630	splice_region_variant	0			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1016-1G>T	3.37:g.41952879C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Splice_Site	SNP	-	e10-1	ENST00000301831.4	37	c.1016-1	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519886	0.44866	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6033	0.88031	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK4	41927883	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.266000	0.65525	2.445000	0.82738	0.650000	0.86243	.	ULK4	-	-	ENSG00000168038		0.358	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	HGNC	protein_coding	OTTHUMT00000343490.1	189	0.00	0	C	XM_929989	Intron	41952879	41952879	-1	no_errors	ENST00000301831	ensembl	human	known	69_37n	splice_site	160	10.61	19	SNP	1.000	A
UMODL1	89766	genome.wustl.edu	37	21	43531084	43531084	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:43531084G>T	ENST00000408910.2	+	11	1752	c.1752G>T	c.(1750-1752)gaG>gaT	p.E584D	UMODL1_ENST00000400427.1_Missense_Mutation_p.E512D|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000408989.2_Missense_Mutation_p.E584D|UMODL1_ENST00000400424.2_Missense_Mutation_p.E512D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	584					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCGGCCTAGAGAACTTCACCT	0.662																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	dbGAP											0													30.0	38.0	36.0					21																	43531084		2040	4184	6224	-	-	-	SO:0001583	missense	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1752G>T	21.37:g.43531084G>T	ENSP00000386147:p.Glu584Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.E584D	ENST00000408910.2	37	c.1752	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281583	0.40394	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.73681	-0.77;-0.74;-0.77;-0.74	3.83	3.83	0.44106	.	0.390430	0.18835	N	0.129844	T	0.73713	0.3622	L	0.36672	1.1	0.25733	N	0.985241	D;D	0.67145	0.996;0.976	P;P	0.58928	0.848;0.527	T	0.63664	-0.6586	10	0.56958	D	0.05	-11.9343	7.4995	0.27509	0.1144:0.0:0.8856:0.0	.	584;584	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	D	512;512;584;584	ENSP00000383279:E512D;ENSP00000383276:E512D;ENSP00000386126:E584D;ENSP00000386147:E584D	ENSP00000383276:E512D	E	+	3	2	UMODL1	42404153	0.900000	0.30661	0.265000	0.24526	0.009000	0.06853	1.102000	0.31050	2.414000	0.81942	0.655000	0.94253	GAG	UMODL1	-	NULL	ENSG00000177398		0.662	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	29	0.00	0	G			43531084	43531084	+1	no_errors	ENST00000408989	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	0.660	T
UMODL1	89766	genome.wustl.edu	37	21	43541250	43541250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:43541250C>T	ENST00000408910.2	+	16	2743	c.2743C>T	c.(2743-2745)Cga>Tga	p.R915*	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Nonsense_Mutation_p.R971*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.R1043*|UMODL1_ENST00000400424.2_Nonsense_Mutation_p.R843*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	915	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GACATCCTGTCGAAACACCCT	0.517																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	dbGAP											0													125.0	128.0	127.0					21																	43541250		1915	4116	6031	-	-	-	SO:0001587	stop_gained	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2743C>T	21.37:g.43541250C>T	ENSP00000386147:p.Arg915*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.R1043*	ENST00000408910.2	37	c.3127	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	38	7.055614	0.98032	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	3.87	0.779	0.18550	.	1.374510	0.05238	N	0.511687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0791	3.2149	0.06695	0.4277:0.3565:0.0:0.2158	.	.	.	.	X	971;843;1043;915	.	.	R	+	1	2	UMODL1	42414319	0.001000	0.12720	0.001000	0.08648	0.239000	0.25481	0.331000	0.19733	0.155000	0.19261	0.449000	0.29647	CGA	UMODL1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000177398		0.517	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	121	0.00	0	C			43541250	43541250	+1	no_errors	ENST00000408989	ensembl	human	known	69_37n	nonsense	69	11.39	9	SNP	0.001	T
UNC13C	440279	genome.wustl.edu	37	15	54527271	54527271	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:54527271C>T	ENST00000260323.11	+	4	3115	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1039C|UNC13C_ENST00000545554.1_Missense_Mutation_p.R1039C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1039					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R1039G(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCGGATCTTCGCAGAAAAAA	0.358																																						dbGAP											2	Substitution - Missense(2)	lung(2)											148.0	138.0	141.0					15																	54527271		1849	4096	5945	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3115C>T	15.37:g.54527271C>T	ENSP00000260323:p.Arg1039Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1039C	ENST00000260323.11	37	c.3115	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566029	0.65651	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84070	-1.78;-1.8;-1.77	5.67	4.74	0.60224	.	0.244355	0.40554	N	0.001065	D	0.90473	0.7016	M	0.79475	2.455	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	D	0.91668	0.5348	10	0.87932	D	0	.	14.053	0.64749	0.1522:0.8478:0.0:0.0	.	1039	Q8NB66	UN13C_HUMAN	C	1039	ENSP00000260323:R1039C;ENSP00000438156:R1039C;ENSP00000442569:R1039C	ENSP00000260323:R1039C	R	+	1	0	UNC13C	52314563	1.000000	0.71417	0.996000	0.52242	0.583000	0.36354	4.415000	0.59809	1.503000	0.48686	0.591000	0.81541	CGC	UNC13C	-	NULL	ENSG00000137766		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	537	0.00	0	C	NM_173166		54527271	54527271	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	266	30.91	119	SNP	1.000	T
UNC13C	440279	genome.wustl.edu	37	15	54592515	54592515	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:54592515A>C	ENST00000260323.11	+	12	4212	c.4212A>C	c.(4210-4212)gaA>gaC	p.E1404D	UNC13C_ENST00000537900.1_Missense_Mutation_p.E1402D|UNC13C_ENST00000545554.1_Missense_Mutation_p.E1404D	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1404					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E1404D(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTCCCAAGAAATAGTTGATG	0.358																																						dbGAP											2	Substitution - Missense(2)	lung(2)											110.0	101.0	104.0					15																	54592515		1848	4123	5971	-	-	-	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4212A>C	15.37:g.54592515A>C	ENSP00000260323:p.Glu1404Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1404D	ENST00000260323.11	37	c.4212	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711537	0.68730	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.45;-1.45	5.61	3.34	0.38264	.	0.050070	0.85682	D	0.000000	D	0.84620	0.5512	L	0.54323	1.7	0.47009	D	0.999284	P;D	0.69078	0.668;0.997	P;D	0.72625	0.594;0.978	D	0.83398	0.0021	10	0.52906	T	0.07	.	8.6884	0.34251	0.8464:0.0:0.1536:0.0	.	1404;1404	F5H090;Q8NB66	.;UN13C_HUMAN	D	1404;1404;1402	ENSP00000260323:E1404D;ENSP00000438156:E1404D;ENSP00000442569:E1402D	ENSP00000260323:E1404D	E	+	3	2	UNC13C	52379807	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.884000	0.48562	0.968000	0.38212	0.533000	0.62120	GAA	UNC13C	-	NULL	ENSG00000137766		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	412	0.00	0	A	NM_173166		54592515	54592515	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	missense	309	12.96	46	SNP	1.000	C
UNC45B	146862	genome.wustl.edu	37	17	33486548	33486548	+	Silent	SNP	C	C	A	rs183214174	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33486548C>A	ENST00000268876.5	+	8	1060	c.963C>A	c.(961-963)atC>atA	p.I321I	UNC45B_ENST00000378449.1_Silent_p.I321I|UNC45B_ENST00000433649.1_Silent_p.I321I|UNC45B_ENST00000394570.2_Silent_p.I321I|UNC45B_ENST00000591048.1_Silent_p.I321I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	321					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CACGTACCATCTATGTGGTGG	0.517													C|||	3	0.000599042	0.0	0.0	5008	,	,		21493	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													106.0	91.0	96.0					17																	33486548		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.963C>A	17.37:g.33486548C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Q8|Q495Q9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I321	ENST00000268876.5	37	c.963	CCDS11292.1	17																																																																																			UNC45B	-	pfam_UNC-45/Ring3	ENSG00000141161		0.517	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	139	0.00	0	C	NM_173167		33486548	33486548	+1	no_errors	ENST00000268876	ensembl	human	known	69_37n	silent	104	14.75	18	SNP	1.000	A
UNC45B	146862	genome.wustl.edu	37	17	33497168	33497168	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:33497168G>A	ENST00000268876.5	+	12	1680	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q	UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000433649.1_Missense_Mutation_p.R528Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.R528Q|UNC45B_ENST00000591048.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	528					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACTCGGACCCGACGCTGGGCA	0.607																																						dbGAP											0													87.0	75.0	79.0					17																	33497168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1583G>A	17.37:g.33497168G>A	ENSP00000268876:p.Arg528Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R528Q	ENST00000268876.5	37	c.1583	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.214452	0.95104	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649	T;T;T	0.35973	1.28;3.08;1.28	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70016	0.96;0.967	T	0.71272	-0.4642	10	0.51188	T	0.08	-28.6032	17.634	0.88117	0.0:0.0:1.0:0.0	.	528;528	Q8IWX7-3;Q8IWX7	.;UN45B_HUMAN	Q	528	ENSP00000378071:R528Q;ENSP00000268876:R528Q;ENSP00000412840:R528Q	ENSP00000268876:R528Q	R	+	2	0	UNC45B	30521281	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.807000	0.86032	2.630000	0.89119	0.655000	0.94253	CGA	UNC45B	-	superfamily_ARM-type_fold	ENSG00000141161		0.607	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	43	0.00	0	G	NM_173167		33497168	33497168	+1	no_errors	ENST00000268876	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	A
UNC13D	201294	genome.wustl.edu	37	17	73832921	73832921	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:73832921G>A	ENST00000207549.4	-	13	1513	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	UNC13D_ENST00000412096.2_Silent_p.I378I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	378	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGTACTCGATGCTGGTGA	0.652									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													165.0	161.0	162.0					17																	73832921		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1134C>T	17.37:g.73832921G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWG9|Q9H7K5	Missense_Mutation	SNP	NULL	p.S119L	ENST00000207549.4	37	c.356	CCDS11730.1	17																																																																																			UNC13D	-	NULL	ENSG00000092929		0.652	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	64	0.00	0	G	XM_113950		73832921	73832921	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000587105	ensembl	human	known	69_37n	missense	25	50.00	25	SNP	0.153	A
UNC50	25972	genome.wustl.edu	37	2	99232673	99232673	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:99232673C>A	ENST00000357765.2	+	4	557	c.405C>A	c.(403-405)ttC>ttA	p.F135L	UNC50_ENST00000409975.1_Missense_Mutation_p.F152L|UNC50_ENST00000409347.1_Missense_Mutation_p.F152L	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	135					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTCTTAGGTTCATCTCTAACA	0.353																																						dbGAP											0													115.0	101.0	106.0					2																	99232673		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.405C>A	2.37:g.99232673C>A	ENSP00000350409:p.Phe135Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Nonsense_Mutation	SNP	pfam_UNC-50	p.S2*	ENST00000357765.2	37	c.5	CCDS2035.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.36|17.36	3.371128|3.371128	0.61624|0.61624	.|.	.|.	ENSG00000115446|ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347|ENST00000393493;ENST00000423713	.|.	.|.	.|.	5.59|5.59	3.26|3.26	0.37387|0.37387	.|.	0.176299|.	0.64402|.	D|.	0.000019|.	T|.	0.58850|.	0.2151|.	L|L	0.58428|0.58428	1.81|1.81	0.53005|0.53005	D|D	0.999966|0.999966	B|.	0.14012|.	0.009|.	B|.	0.22152|.	0.038|.	T|.	0.55642|.	-0.8109|.	9|.	0.25751|.	T|.	0.34|.	-0.0316|-0.0316	7.5051|7.5051	0.27540|0.27540	0.0:0.6256:0.0:0.3744|0.0:0.6256:0.0:0.3744	.|.	135|.	Q53HI1|.	UNC50_HUMAN|.	L|X	135;152;152|2	.|.	ENSP00000350409:F135L|.	F|S	+|+	3|2	2|0	UNC50|UNC50	98599105|98599105	0.770000|0.770000	0.28543|0.28543	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.134000|0.134000	0.15932|0.15932	1.201000|1.201000	0.43203|0.43203	0.585000|0.585000	0.79938|0.79938	TTC|TCA	UNC50	-	pfam_UNC-50	ENSG00000115446		0.353	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	280	0.00	0	C	NM_014044		99232673	99232673	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000393493	ensembl	human	novel	69_37n	nonsense	249	15.02	44	SNP	0.984	A
UNC5D	137970	genome.wustl.edu	37	8	35406937	35406937	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:35406937G>A	ENST00000404895.2	+	2	559	c.231G>A	c.(229-231)gcG>gcA	p.A77A	UNC5D_ENST00000287272.2_Silent_p.A77A|UNC5D_ENST00000420357.1_Silent_p.A77A|UNC5D_ENST00000416672.1_Silent_p.A77A|UNC5D_ENST00000453357.2_Silent_p.A72A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	77	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A72A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTGCAAAGCGAGGCCAGCCA	0.512																																						dbGAP											1	Substitution - coding silent(1)	urinary_tract(1)											63.0	57.0	59.0					8																	35406937		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.231G>A	8.37:g.35406937G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.A77	ENST00000404895.2	37	c.231	CCDS6093.2	8																																																																																			UNC5D	-	NULL	ENSG00000156687		0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	83	0.00	0	G			35406937	35406937	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	silent	61	24.69	20	SNP	0.005	A
UNC5D	137970	genome.wustl.edu	37	8	35606161	35606161	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:35606161C>A	ENST00000404895.2	+	12	2211	c.1883C>A	c.(1882-1884)tCt>tAt	p.S628Y	UNC5D_ENST00000287272.2_Missense_Mutation_p.S559Y|UNC5D_ENST00000449677.1_Missense_Mutation_p.S204Y|UNC5D_ENST00000420357.1_Missense_Mutation_p.S561Y|UNC5D_ENST00000416672.1_Missense_Mutation_p.S633Y|UNC5D_ENST00000453357.2_Missense_Mutation_p.S623Y	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	628	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GATGTCAGTTCTGAGCATTGG	0.493																																						dbGAP											0													162.0	142.0	149.0					8																	35606161		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1883C>A	8.37:g.35606161C>A	ENSP00000385143:p.Ser628Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.S628Y	ENST00000404895.2	37	c.1883	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455820	0.43634	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.07	6.07	0.98685	ZU5 (2);	0.396012	0.31268	N	0.007960	T	0.50973	0.1647	L	0.50333	1.59	0.25146	N	0.990467	D;D;D	0.56287	0.975;0.969;0.975	P;P;P	0.51974	0.596;0.558;0.686	T	0.50988	-0.8762	10	0.72032	D	0.01	-11.1703	16.0651	0.80865	0.0:0.8668:0.1332:0.0	.	204;623;628	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	Y	628;561;559;633;623;204	ENSP00000385143:S628Y;ENSP00000392739:S561Y;ENSP00000287272:S559Y;ENSP00000412652:S633Y;ENSP00000394303:S623Y;ENSP00000397211:S204Y	ENSP00000287272:S559Y	S	+	2	0	UNC5D	35725703	0.027000	0.19231	0.995000	0.50966	0.976000	0.68499	2.848000	0.48278	2.885000	0.99019	0.655000	0.94253	TCT	UNC5D	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000156687		0.493	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	241	0.00	0	C			35606161	35606161	+1	no_errors	ENST00000404895	ensembl	human	known	69_37n	missense	153	16.85	31	SNP	0.460	A
UNC79	57578	genome.wustl.edu	37	14	94044269	94044269	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:94044269C>T	ENST00000393151.2	+	18	2293	c.2293C>T	c.(2293-2295)Cgg>Tgg	p.R765W	UNC79_ENST00000256339.4_Missense_Mutation_p.R588W|UNC79_ENST00000555664.1_Missense_Mutation_p.R765W|UNC79_ENST00000553484.1_Missense_Mutation_p.R765W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	765					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGTCCGTTTCGGAGTCCTTT	0.448																																						dbGAP											0													249.0	227.0	235.0					14																	94044269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2293C>T	14.37:g.94044269C>T	ENSP00000376858:p.Arg765Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R765W	ENST00000393151.2	37	c.2293		14	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744312	0.89663	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19532	2.15;2.14;2.15;2.15	5.22	4.33	0.51752	.	0.066947	0.64402	D	0.000017	T	0.22859	0.0552	L	0.29908	0.895	0.53688	D	0.999978	D	0.65815	0.995	P	0.50049	0.629	T	0.01341	-1.1380	10	0.66056	D	0.02	-8.8743	13.1852	0.59677	0.0:0.923:0.0:0.077	.	765	C9JQL1	.	W	588;765;765;765;765	ENSP00000256339:R588W;ENSP00000450868:R765W;ENSP00000451360:R765W;ENSP00000376858:R765W	ENSP00000256339:R588W	R	+	1	2	KIAA1409	93114022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.821000	0.62679	2.444000	0.82710	0.650000	0.86243	CGG	UNC79	-	NULL	ENSG00000133958		0.448	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	298	0.00	0	C	XM_028395		94044269	94044269	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	213	13.36	33	SNP	1.000	T
UNC80	285175	genome.wustl.edu	37	2	210737602	210737602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:210737602G>T	ENST00000439458.1	+	23	3834	c.3754G>T	c.(3754-3756)Gga>Tga	p.G1252*	UNC80_ENST00000272845.6_Nonsense_Mutation_p.G1247*	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1252					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CACCAAGAAAGGACTTTCCCG	0.547																																						dbGAP											0													71.0	69.0	70.0					2																	210737602		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.3754G>T	2.37:g.210737602G>T	ENSP00000391088:p.Gly1252*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Nonsense_Mutation	SNP	NULL	p.G1252*	ENST00000439458.1	37	c.3754	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.103093	0.98066	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	.	.	.	5.95	5.95	0.96441	.	0.055962	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7333	20.3812	0.98933	0.0:0.0:1.0:0.0	.	.	.	.	X	1252;1247	.	ENSP00000272845:G1247X	G	+	1	0	UNC80	210445847	1.000000	0.71417	0.999000	0.59377	0.087000	0.18053	9.869000	0.99810	2.821000	0.97095	0.650000	0.86243	GGA	UNC80	-	NULL	ENSG00000144406		0.547	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		245	0.00	0	G	NM_182587		210737602	210737602	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	nonsense	124	30.73	55	SNP	1.000	T
UNC80	285175	genome.wustl.edu	37	2	210804238	210804238	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:210804238C>A	ENST00000439458.1	+	42	6390	c.6310C>A	c.(6310-6312)Ctc>Atc	p.L2104I	UNC80_ENST00000272845.6_Missense_Mutation_p.L2099I	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2104					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGTGTTGTTTCTCATCTCCCT	0.507																																						dbGAP											0													113.0	104.0	107.0					2																	210804238		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.6310C>A	2.37:g.210804238C>A	ENSP00000391088:p.Leu2104Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.L2104I	ENST00000439458.1	37	c.6310	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879557	0.33162	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.32988	1.43;1.43	5.67	5.67	0.87782	.	0.060303	0.64402	D	0.000002	T	0.24890	0.0604	N	0.22421	0.69	0.80722	D	1	B	0.16396	0.017	B	0.16289	0.015	T	0.03829	-1.1000	10	0.23891	T	0.37	-19.524	19.7756	0.96391	0.0:1.0:0.0:0.0	.	2104	Q8N2C7	UNC80_HUMAN	I	2104;2099	ENSP00000391088:L2104I;ENSP00000272845:L2099I	ENSP00000272845:L2099I	L	+	1	0	UNC80	210512483	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.101000	0.50283	2.694000	0.91930	0.555000	0.69702	CTC	UNC80	-	NULL	ENSG00000144406		0.507	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		285	0.00	0	C	NM_182587		210804238	210804238	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	missense	181	12.98	27	SNP	1.000	A
UNC93B1	81622	genome.wustl.edu	37	11	67766694	67766694	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:67766694G>T	ENST00000227471.2	-	5	715	c.636C>A	c.(634-636)tcC>tcA	p.S212S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											AGGGCGCGTGGGAGCCCCGCG	0.602																																						dbGAP											0													64.0	74.0	71.0					11																	67766694		2033	4184	6217	-	-	-	SO:0001819	synonymous_variant	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.636C>A	11.37:g.67766694G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O95764|Q569H6|Q710D4	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.S212	ENST00000227471.2	37	c.636		11																																																																																			UNC93B1	-	NULL	ENSG00000110057		0.602	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		31	0.00	0	G	NM_030930		67766694	67766694	-1	no_errors	ENST00000227471	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	1.000	T
UPF2	26019	genome.wustl.edu	37	10	12042003	12042003	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:12042003C>A	ENST00000356352.2	-	6	2133	c.1660G>T	c.(1660-1662)Gaa>Taa	p.E554*	UPF2_ENST00000357604.5_Nonsense_Mutation_p.E554*|UPF2_ENST00000397053.2_Nonsense_Mutation_p.E554*			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	554					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCCTCATCTTCTTGTTCTAAT	0.338																																						dbGAP											0													114.0	101.0	106.0					10																	12042003		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1660G>T	10.37:g.12042003C>A	ENSP00000348708:p.Glu554*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Nonsense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E554*	ENST00000356352.2	37	c.1660	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.999948	0.98602	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.2048	0.89851	0.0:1.0:0.0:0.0	.	.	.	.	X	554;554;524;554;524	.	ENSP00000313617:E524X	E	-	1	0	UPF2	12082009	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.417000	0.80156	2.455000	0.83008	0.462000	0.41574	GAA	UPF2	-	NULL	ENSG00000151461		0.338	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	257	0.00	0	C			12042003	12042003	-1	no_errors	ENST00000356352	ensembl	human	known	69_37n	nonsense	125	33.68	64	SNP	1.000	A
UPF3B	65109	genome.wustl.edu	37	X	118971734	118971734	+	Nonsense_Mutation	SNP	G	G	A	rs122468181		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118971734G>A	ENST00000276201.2	-	10	1357	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Nonsense_Mutation_p.R417*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	430	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTTATTCGATCTCTCTTG	0.373																																						dbGAP											0			GRCh37	CM074621	UPF3B	M	rs122468181						180.0	164.0	169.0					X																	118971734		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1288C>T	X.37:g.118971734G>A	ENSP00000276201:p.Arg430*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	pfam_Nonsense_mediated_decay_UPF3	p.R430*	ENST00000276201.2	37	c.1288	CCDS14588.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.025941	0.97216	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.42	0.87512	0.0:0.0:1.0:0.0	.	.	.	.	X	430;417	.	ENSP00000276201:R430X	R	-	1	2	UPF3B	118855762	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.713000	0.68415	2.328000	0.79073	0.526000	0.51066	CGA	UPF3B	-	NULL	ENSG00000125351		0.373	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	629	0.00	0	G			118971734	118971734	-1	no_errors	ENST00000276201	ensembl	human	known	69_37n	nonsense	508	11.79	68	SNP	1.000	A
UPF3B	65109	genome.wustl.edu	37	X	118979168	118979168	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:118979168G>A	ENST00000276201.2	-	4	531	c.462C>T	c.(460-462)atC>atT	p.I154I	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Silent_p.I154I	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	154	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TACCATCATCGATAGTCCCGA	0.333																																						dbGAP											0													139.0	126.0	130.0					X																	118979168		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.462C>T	X.37:g.118979168G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	pfam_Nonsense_mediated_decay_UPF3	p.I154	ENST00000276201.2	37	c.462	CCDS14588.1	X																																																																																			UPF3B	-	pfam_Nonsense_mediated_decay_UPF3	ENSG00000125351		0.333	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	385	0.00	0	G			118979168	118979168	-1	no_errors	ENST00000276201	ensembl	human	known	69_37n	silent	210	32.48	101	SNP	0.998	A
UPP2	151531	genome.wustl.edu	37	2	158991550	158991550	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:158991550G>T	ENST00000005756.4	+	0	1296				UPP2-IT1_ENST00000439185.1_RNA|UPP2_ENST00000409859.4_3'UTR|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_3'UTR	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2						nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	CTCTTAAAAAGGAATTTATTG	0.239																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.*148G>T	2.37:g.158991550G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV87	RNA	SNP	-	NULL	ENST00000005756.4	37	NULL	CCDS2207.1	2																																																																																			UPP2	-	-	ENSG00000007001		0.239	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	47	0.00	0	G	NM_173355		158991550	158991550	+1	no_errors	ENST00000460456	ensembl	human	known	69_37n	rna	22	21.43	6	SNP	0.151	T
UPRT	139596	genome.wustl.edu	37	X	74494390	74494390	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:74494390G>A	ENST00000373383.4	+	1	468	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	UPRT_ENST00000373379.1_Missense_Mutation_p.E101K|UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	101					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGAGGACTGCGAACTCTCCCG	0.582																																						dbGAP											0													31.0	24.0	27.0					X																	74494390		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.301G>A	X.37:g.74494390G>A	ENSP00000362481:p.Glu101Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	pfam_PRibTrfase	p.E101K	ENST00000373383.4	37	c.301	CCDS14429.1	X	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549701	0.86127	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	5.38	4.51	0.55191	.	0.273354	0.27618	N	0.018569	T	0.53174	0.1780	L	0.36672	1.1	0.80722	D	1	D;B;B	0.62365	0.991;0.391;0.391	P;B;B	0.52424	0.698;0.084;0.084	T	0.55276	-0.8166	9	0.56958	D	0.05	-11.6877	12.6282	0.56642	0.0:0.1631:0.8369:0.0	.	101;101;101	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	K	101	.	ENSP00000362471:E101K	E	+	1	0	UPRT	74411115	0.996000	0.38824	0.702000	0.30337	0.851000	0.48451	2.447000	0.44917	1.224000	0.43551	0.600000	0.82982	GAA	UPRT	-	NULL	ENSG00000094841		0.582	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPRT	HGNC	protein_coding	OTTHUMT00000057278.1	137	0.00	0	G	NM_145052		74494390	74494390	+1	no_errors	ENST00000373383	ensembl	human	known	69_37n	missense	69	34.91	37	SNP	0.878	A
UQCR10	29796	genome.wustl.edu	37	22	30163495	30163495	+	Silent	SNP	C	C	T	rs558714432		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:30163495C>T	ENST00000330029.6	+	1	138	c.108C>T	c.(106-108)ttC>ttT	p.F36F	ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_Silent_p.F36F	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	36					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						AGCGCGCCTTCGATCAAGGCG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17565	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													41.0	47.0	45.0					22																	30163495		2006	4165	6171	-	-	-	SO:0001819	synonymous_variant	0			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.108C>T	22.37:g.30163495C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCM5|Q9T2V6	Silent	SNP	pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9	p.F36	ENST00000330029.6	37	c.108	CCDS46680.1	22	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008158	0.35415	.	.	ENSG00000184076	ENST00000332801	.	.	.	5.73	5.73	0.89815	.	0.000000	0.36591	N	0.002501	T	0.76062	0.3935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78326	-0.2247	6	0.87932	D	0	-6.6779	15.4576	0.75327	0.0:1.0:0.0:0.0	.	.	.	.	L	36	.	ENSP00000333278:S36L	S	+	2	0	UQCR10	28493495	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.025000	0.41059	2.720000	0.93068	0.558000	0.71614	TCG	UQCR10	-	pfam_Ubiquinol_cyt_c_Rdtase_QCR9,superfamily_Ubiquinol_cyt_c_Rdtase_QCR9	ENSG00000184076		0.607	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCR10	HGNC	protein_coding	OTTHUMT00000322081.1	98	0.00	0	C	NM_013387		30163495	30163495	+1	no_errors	ENST00000330029	ensembl	human	known	69_37n	silent	58	17.14	12	SNP	1.000	T
UQCRFS1	7386	genome.wustl.edu	37	19	29698744	29698744	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:29698744C>A	ENST00000304863.4	-	2	958	c.536G>T	c.(535-537)aGa>aTa	p.R179I		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	179					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CTTCTGGGTTCTATGACGCAC	0.453																																						dbGAP											0													118.0	125.0	122.0					19																	29698744		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.536G>T	19.37:g.29698744C>A	ENSP00000306397:p.Arg179Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.R179I	ENST00000304863.4	37	c.536	CCDS12415.1	19	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018042	0.54576	.	.	ENSG00000169021	ENST00000304863	T	0.70164	-0.46	5.42	4.39	0.52855	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (3);	0.043195	0.85682	D	0.000000	D	0.89462	0.6722	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92657	0.6138	10	0.87932	D	0	.	12.361	0.55203	0.0:0.9173:0.0:0.0827	.	179	P47985	UCRI_HUMAN	I	179	ENSP00000306397:R179I	ENSP00000306397:R179I	R	-	2	0	UQCRFS1	34390584	1.000000	0.71417	0.942000	0.38095	0.257000	0.26127	5.727000	0.68523	1.255000	0.44051	0.462000	0.41574	AGA	UQCRFS1	-	pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	ENSG00000169021		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1	152	0.00	0	C	NM_006003		29698744	29698744	-1	no_errors	ENST00000304863	ensembl	human	known	69_37n	missense	99	15.38	18	SNP	1.000	A
URB1	9875	genome.wustl.edu	37	21	33696875	33696875	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33696875C>T	ENST00000382751.3	-	32	5274	c.5159G>A	c.(5158-5160)cGa>cAa	p.R1720Q		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1720						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GTCCTGAGTTCGAATCCCATT	0.438																																						dbGAP											0													79.0	65.0	69.0					21																	33696875		692	1591	2283	-	-	-	SO:0001583	missense	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.5159G>A	21.37:g.33696875C>T	ENSP00000372199:p.Arg1720Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.R1720Q	ENST00000382751.3	37	c.5159	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129241	0.56721	.	.	ENSG00000142207	ENST00000382751	T	0.34667	1.35	5.57	3.75	0.43078	.	0.264714	0.38663	N	0.001619	T	0.32823	0.0842	M	0.61703	1.905	0.45946	D	0.99877	B	0.27192	0.171	B	0.14578	0.011	T	0.07046	-1.0793	10	0.25106	T	0.35	-3.0727	12.3341	0.55056	0.0:0.865:0.0:0.135	.	1720	O60287	NPA1P_HUMAN	Q	1720	ENSP00000372199:R1720Q	ENSP00000372199:R1720Q	R	-	2	0	URB1	32618746	0.959000	0.32827	0.854000	0.33618	0.998000	0.95712	0.664000	0.25068	0.705000	0.31890	0.655000	0.94253	CGA	URB1	-	superfamily_ARM-type_fold	ENSG00000142207		0.438	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	62	0.00	0	C			33696875	33696875	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	0.980	T
URB1	9875	genome.wustl.edu	37	21	33756749	33756749	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:33756749C>T	ENST00000382751.3	-	3	422	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	103						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AATATGGCCTCGAAAACTTGA	0.388																																						dbGAP											0													112.0	97.0	101.0					21																	33756749		692	1591	2283	-	-	-	SO:0001583	missense	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.307G>A	21.37:g.33756749C>T	ENSP00000372199:p.Glu103Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.E103K	ENST00000382751.3	37	c.307	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.382100	0.95967	.	.	ENSG00000142207	ENST00000382751	T	0.33865	1.39	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.65975	2.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.55528	-0.8127	10	0.36615	T	0.2	-33.3811	19.0342	0.92970	0.0:1.0:0.0:0.0	.	103	O60287	NPA1P_HUMAN	K	103	ENSP00000372199:E103K	ENSP00000372199:E103K	E	-	1	0	URB1	32678620	1.000000	0.71417	0.954000	0.39281	0.809000	0.45718	6.865000	0.75500	2.597000	0.87782	0.655000	0.94253	GAG	URB1	-	pfam_Npa1_N	ENSG00000142207		0.388	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	204	0.00	0	C			33756749	33756749	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	missense	187	12.62	27	SNP	1.000	T
USH1C	10083	genome.wustl.edu	37	11	17532027	17532027	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:17532027C>A	ENST00000318024.4	-	15	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.K485N|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AATATTGAATCTTTTCCGATT	0.488																																						dbGAP											0													74.0	65.0	68.0					11																	17532027		2200	4293	6493	-	-	-	SO:0001627	intron_variant	0			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1284+6920G>T	11.37:g.17532027C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K485N	ENST00000318024.4	37	c.1455	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155250	0.78114	.	.	ENSG00000006611	ENST00000005226	T	0.65364	-0.15	5.92	5.92	0.95590	.	0.067192	0.56097	D	0.000027	T	0.80581	0.4650	.	.	.	0.37283	D	0.907924	D	0.76494	0.999	D	0.80764	0.994	T	0.82699	-0.0328	9	0.54805	T	0.06	.	19.0921	0.93231	0.0:1.0:0.0:0.0	.	485	Q7RTU8	.	N	485	ENSP00000005226:K485N	ENSP00000005226:K485N	K	-	3	2	USH1C	17488603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.757000	0.38400	2.813000	0.96785	0.561000	0.74099	AAG	USH1C	-	NULL	ENSG00000006611		0.488	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	186	0.00	0	C	NM_005709		17532027	17532027	-1	no_errors	ENST00000005226	ensembl	human	known	69_37n	missense	120	15.49	22	SNP	1.000	A
USH1G	124590	genome.wustl.edu	37	17	72915799	72915799	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:72915799C>T	ENST00000319642.1	-	2	1314	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	378					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AAGCCTAAATCGAGCTCATCC	0.657																																						dbGAP											0													38.0	40.0	39.0					17																	72915799		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1132G>A	17.37:g.72915799C>T	ENSP00000320076:p.Asp378Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N251	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D378N	ENST00000319642.1	37	c.1132	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470648	0.84533	.	.	ENSG00000182040	ENST00000319642	T	0.70869	-0.52	4.53	4.53	0.55603	.	0.103918	0.64402	D	0.000005	T	0.61813	0.2377	L	0.27053	0.805	0.80722	D	1	D	0.52996	0.957	B	0.43155	0.41	T	0.67189	-0.5733	10	0.48119	T	0.1	-32.8162	17.5258	0.87800	0.0:1.0:0.0:0.0	.	378	Q495M9	USH1G_HUMAN	N	378	ENSP00000320076:D378N	ENSP00000320076:D378N	D	-	1	0	USH1G	70427394	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.683000	0.68189	2.383000	0.81215	0.555000	0.69702	GAT	USH1G	-	NULL	ENSG00000182040		0.657	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	11	0.00	0	C	NM_173477		72915799	72915799	-1	no_errors	ENST00000319642	ensembl	human	known	69_37n	missense	5	50.00	5	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	215847721	215847721	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:215847721G>A	ENST00000307340.3	-	63	13918	c.13532C>T	c.(13531-13533)gCc>gTc	p.A4511V	USH2A_ENST00000366943.2_Missense_Mutation_p.A4511V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4511	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTTGCTGGCAGTTACTGT	0.502										HNSCC(13;0.011)																												dbGAP											0													116.0	111.0	113.0					1																	215847721		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.13532C>T	1.37:g.215847721G>A	ENSP00000305941:p.Ala4511Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.A4511V	ENST00000307340.3	37	c.13532	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930685	0.52866	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.76060	-0.43;-0.99	4.29	4.29	0.51040	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39759	U	0.001268	D	0.89560	0.6750	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92504	0.6011	10	0.62326	D	0.03	.	17.1095	0.86672	0.0:0.0:1.0:0.0	.	4511	O75445	USH2A_HUMAN	V	4511	ENSP00000305941:A4511V;ENSP00000355910:A4511V	ENSP00000305941:A4511V	A	-	2	0	USH2A	213914344	1.000000	0.71417	0.991000	0.47740	0.215000	0.24574	9.430000	0.97488	2.091000	0.63221	0.467000	0.42956	GCC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	243	0.00	0	G	NM_007123		215847721	215847721	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	171	24.67	56	SNP	1.000	A
USH2A	7399	genome.wustl.edu	37	1	216019236	216019236	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:216019236G>T	ENST00000307340.3	-	45	9371	c.8985C>A	c.(8983-8985)atC>atA	p.I2995I	USH2A_ENST00000366943.2_Silent_p.I2995I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2995	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGAGATAAAGATCCAATACT	0.433										HNSCC(13;0.011)																												dbGAP											0													100.0	95.0	97.0					1																	216019236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			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.8985C>A	1.37:g.216019236G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.I2995	ENST00000307340.3	37	c.8985	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	230	0.00	0	G	NM_007123		216019236	216019236	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	235	13.28	36	SNP	0.550	T
USH2A	7399	genome.wustl.edu	37	1	216062266	216062266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:216062266G>T	ENST00000307340.3	-	41	8111	c.7725C>A	c.(7723-7725)taC>taA	p.Y2575*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Y2575*|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2575	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTTCTCAAGTATAGACGGC	0.408										HNSCC(13;0.011)																												dbGAP											0													145.0	142.0	143.0					1																	216062266		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			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.7725C>A	1.37:g.216062266G>T	ENSP00000305941:p.Tyr2575*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Y2575*	ENST00000307340.3	37	c.7725	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	50	16.502675	0.99865	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.87	3.8	0.43715	.	1.211620	0.06142	N	0.672599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4177	0.11465	0.2415:0.0:0.5772:0.1813	.	.	.	.	X	2575	.	ENSP00000305941:Y2575X	Y	-	3	2	USH2A	214128889	0.000000	0.05858	0.003000	0.11579	0.460000	0.32559	0.991000	0.29654	1.491000	0.48482	0.655000	0.94253	TAC	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	224	0.88	2	G	NM_007123		216062266	216062266	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	nonsense	195	26.87	72	SNP	0.001	T
USP13	8975	genome.wustl.edu	37	3	179399666	179399666	+	Splice_Site	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:179399666A>C	ENST00000263966.3	+	2	640	c.169A>C	c.(169-171)Aat>Cat	p.N57H	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_5'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	57					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTCTTCTAGAATTCTGAAGG	0.423																																						dbGAP											0													183.0	183.0	183.0					3																	179399666		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.169-1A>C	3.37:g.179399666A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.N57H	ENST00000263966.3	37	c.169	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817911	0.50633	.	.	ENSG00000058056	ENST00000263966	T	0.14144	2.53	5.67	4.52	0.55395	.	0.263896	0.43416	D	0.000568	T	0.05640	0.0148	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.021;0.002	B;B	0.12837	0.008;0.0	T	0.37033	-0.9723	9	.	.	.	-12.9312	4.9391	0.13956	0.7366:0.0:0.2634:0.0	.	57;57	Q92995;A8K2S3	UBP13_HUMAN;.	H	57	ENSP00000263966:N57H	.	N	+	1	0	USP13	180882360	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	6.923000	0.75817	2.161000	0.67846	0.455000	0.32223	AAT	USP13	-	pirsf_Ubiquitinyl_hydrolase	ENSG00000058056		0.423	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	193	0.00	0	A		Missense_Mutation	179399666	179399666	+1	no_errors	ENST00000263966	ensembl	human	known	69_37n	missense	146	15.12	26	SNP	1.000	C
USP13	8975	genome.wustl.edu	37	3	179426667	179426667	+	Missense_Mutation	SNP	G	G	A	rs201476527		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:179426667G>A	ENST00000263966.3	+	6	1198	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.G178R	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	243					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TGGGGGCAACGGGCATGCGCT	0.562																																						dbGAP											0													140.0	124.0	129.0					3																	179426667		2203	4300	6503	-	-	-	SO:0001583	missense	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.727G>A	3.37:g.179426667G>A	ENSP00000263966:p.Gly243Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.G243R	ENST00000263966.3	37	c.727	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.092291	0.94149	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.32023	1.47;1.47	5.83	5.83	0.93111	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.96;0.985	T	0.53760	-0.8393	10	0.87932	D	0	-20.1422	20.1356	0.98028	0.0:0.0:1.0:0.0	.	243;243	Q92995;A8K2S3	UBP13_HUMAN;.	R	243;178	ENSP00000263966:G243R;ENSP00000417146:G178R	ENSP00000263966:G243R	G	+	1	0	USP13	180909361	1.000000	0.71417	0.966000	0.40874	0.740000	0.42216	9.476000	0.97823	2.755000	0.94549	0.650000	0.86243	GGG	USP13	-	pfam_Znf_UBP,smart_Znf_UBP,pirsf_Ubiquitinyl_hydrolase,pfscan_Znf_UBP	ENSG00000058056		0.562	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	142	0.00	0	G			179426667	179426667	+1	no_errors	ENST00000263966	ensembl	human	known	69_37n	missense	67	36.19	38	SNP	1.000	A
USP14	9097	genome.wustl.edu	37	18	178978	178978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:178978G>T	ENST00000261601.7	+	4	332	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	USP14_ENST00000582707.1_Intron|USP14_ENST00000400266.3_Nonsense_Mutation_p.E70*|USP14_ENST00000383589.2_Intron	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	81					negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTCCAGAAGAACCCTCAGC	0.363																																						dbGAP											0													72.0	69.0	70.0					18																	178978		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.241G>T	18.37:g.178978G>T	ENSP00000261601:p.Glu81*	Somatic		WXS	Illumina GAIIx	Phase_IV	J3QRZ5|Q53XY5	Nonsense_Mutation	SNP	pfam_Peptidase_C19,smart_Ubiquitin,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.E81*	ENST00000261601.7	37	c.241	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	G	37	6.540255	0.97650	.	.	ENSG00000101557	ENST00000261601;ENST00000400266	.	.	.	5.93	5.93	0.95920	.	0.045227	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	19.9291	0.97113	0.0:0.0:1.0:0.0	.	.	.	.	X	81;70	.	ENSP00000261601:E81X	E	+	1	0	USP14	168978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.002000	0.93572	2.808000	0.96608	0.551000	0.68910	GAA	USP14	-	NULL	ENSG00000101557		0.363	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	136	0.00	0	G	NM_005151		178978	178978	+1	no_errors	ENST00000261601	ensembl	human	known	69_37n	nonsense	67	21.18	18	SNP	1.000	T
USP15	9958	genome.wustl.edu	37	12	62795052	62795052	+	Silent	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:62795052T>A	ENST00000280377.5	+	21	2818	c.2760T>A	c.(2758-2760)atT>atA	p.I920I	USP15_ENST00000353364.3_Silent_p.I891I|USP15_ENST00000393654.3_Silent_p.I895I	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	920	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAGACCAAATTGTGGTAAGTT	0.328																																					Melanoma(181;615 2041 39364 49691 50001)	dbGAP											0													64.0	63.0	63.0					12																	62795052		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2760T>A	12.37:g.62795052T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.I920	ENST00000280377.5	37	c.2760	CCDS58251.1	12																																																																																			USP15	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000135655		0.328	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	169	0.00	0	T	NM_006313		62795052	62795052	+1	no_errors	ENST00000280377	ensembl	human	known	69_37n	silent	105	21.64	29	SNP	1.000	A
USP21	27005	genome.wustl.edu	37	1	161132851	161132851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161132851G>T	ENST00000289865.8	+	6	1257	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	USP21_ENST00000368002.3_Nonsense_Mutation_p.E346*|USP21_ENST00000368001.1_Nonsense_Mutation_p.E346*	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	346	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCTGCTAGAAGAACCTGAGTT	0.517																																						dbGAP											0													89.0	94.0	93.0					1																	161132851		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1036G>T	1.37:g.161132851G>T	ENSP00000289865:p.Glu346*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E346*	ENST00000289865.8	37	c.1036	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.654956	0.97739	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	.	.	.	4.83	3.91	0.45181	.	0.504996	0.14697	U	0.303834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	10.3254	0.43790	0.0:0.0:0.8036:0.1964	.	.	.	.	X	346	.	ENSP00000289865:E346X	E	+	1	0	USP21	159399475	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	4.501000	0.60393	1.235000	0.43724	0.455000	0.32223	GAA	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000143258		0.517	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	305	0.00	0	G			161132851	161132851	+1	no_errors	ENST00000289865	ensembl	human	known	69_37n	nonsense	156	19.59	38	SNP	0.999	T
USP21	27005	genome.wustl.edu	37	1	161133388	161133388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:161133388C>T	ENST00000289865.8	+	7	1314	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	PPOX_ENST00000432542.2_5'Flank|USP21_ENST00000368002.3_Nonsense_Mutation_p.R365*|PPOX_ENST00000352210.5_5'Flank|PPOX_ENST00000535223.1_5'Flank|USP21_ENST00000493054.1_3'UTR|USP21_ENST00000368001.1_Nonsense_Mutation_p.R365*|PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000367999.4_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	365	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTACCTGGAGCGAGAGGACAG	0.512																																						dbGAP											0													151.0	127.0	135.0					1																	161133388		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1093C>T	1.37:g.161133388C>T	ENSP00000289865:p.Arg365*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R365*	ENST00000289865.8	37	c.1093	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.492280	0.98319	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	.	.	.	5.43	2.45	0.29901	.	0.527392	0.15977	N	0.235486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8926	0.29686	0.5231:0.4007:0.0:0.0762	.	.	.	.	X	365	.	ENSP00000289865:R365X	R	+	1	2	USP21	159400012	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	1.255000	0.32909	0.227000	0.20999	0.561000	0.74099	CGA	USP21	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000143258		0.512	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	454	0.44	2	C			161133388	161133388	+1	no_errors	ENST00000289865	ensembl	human	known	69_37n	nonsense	259	13.38	40	SNP	0.989	T
USP25	29761	genome.wustl.edu	37	21	17246810	17246810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:17246810G>T	ENST00000285679.6	+	22	3133	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	USP25_ENST00000285681.2_Nonsense_Mutation_p.E954*|USP25_ENST00000351097.5_Nonsense_Mutation_p.E317*|USP25_ENST00000400183.2_Nonsense_Mutation_p.E992*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	922					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ACATGATGAAGAATTGATATC	0.328																																						dbGAP											0													150.0	157.0	155.0					21																	17246810		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2764G>T	21.37:g.17246810G>T	ENSP00000285679:p.Glu922*	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.E992*	ENST00000285679.6	37	c.2974	CCDS33515.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.786651|8.786651	0.98954|0.98954	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183|ENST00000449491	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.089513|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77739	.|-0.2475	.|3	0.19147|.	T|.	0.46|.	.|.	19.8549|19.8549	0.96755|0.96755	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	954;922;317;992|220	.|.	ENSP00000285679:E922X|.	E|K	+|+	1|3	0|2	USP25|USP25	16168681|16168681	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	5.859000|5.859000	0.69539|0.69539	2.699000|2.699000	0.92147|0.92147	0.460000|0.460000	0.39030|0.39030	GAA|AAG	USP25	-	NULL	ENSG00000155313		0.328	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	290	0.00	0	G			17246810	17246810	+1	no_errors	ENST00000400183	ensembl	human	known	69_37n	nonsense	169	12.44	24	SNP	1.000	T
USP25	29761	genome.wustl.edu	37	21	17250145	17250145	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr21:17250145G>A	ENST00000285679.6	+	23	3199	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	USP25_ENST00000285681.2_Missense_Mutation_p.E976K|USP25_ENST00000351097.5_Missense_Mutation_p.E339K|USP25_ENST00000400183.2_Missense_Mutation_p.E1014K	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	944					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGAACTCTTCGAATCTGGAGA	0.323																																						dbGAP											0													86.0	87.0	87.0					21																	17250145		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2830G>A	21.37:g.17250145G>A	ENSP00000285679:p.Glu944Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.E1014K	ENST00000285679.6	37	c.3040	CCDS33515.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.112226	0.94339	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.32988	1.82;1.83;1.43;1.79	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	L	0.57536	1.79	0.80722	D	1	D;D;P;D	0.71674	0.968;0.998;0.839;0.978	B;P;B;B	0.58928	0.441;0.848;0.432;0.335	T	0.48703	-0.9012	10	0.66056	D	0.02	.	19.1605	0.93529	0.0:0.0:1.0:0.0	.	1014;339;976;944	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	K	976;944;339;1014	ENSP00000285681:E976K;ENSP00000285679:E944K;ENSP00000299574:E339K;ENSP00000383044:E1014K	ENSP00000285679:E944K	E	+	1	0	USP25	16172016	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.412000	0.97347	2.641000	0.89580	0.585000	0.79938	GAA	USP25	-	NULL	ENSG00000155313		0.323	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	451	0.00	0	G			17250145	17250145	+1	no_errors	ENST00000400183	ensembl	human	known	69_37n	missense	229	20.76	60	SNP	1.000	A
USP26	83844	genome.wustl.edu	37	X	132161376	132161376	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:132161376C>T	ENST00000511190.1	-	6	1342	c.873G>A	c.(871-873)gaG>gaA	p.E291E	USP26_ENST00000370832.1_Silent_p.E291E|USP26_ENST00000406273.1_Silent_p.E291E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	291					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCATATTTTCTCTGGAAATA	0.358																																					NSCLC(104;342 1621 36940 47097 52632)	dbGAP											0													37.0	37.0	37.0					X																	132161376		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.873G>A	X.37:g.132161376C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9WRT6|Q5H9H4	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E291	ENST00000511190.1	37	c.873	CCDS14635.1	X																																																																																			USP26	-	NULL	ENSG00000134588		0.358	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	42	0.00	0	C	NM_031907		132161376	132161376	-1	no_errors	ENST00000370832	ensembl	human	known	69_37n	silent	32	19.51	8	SNP	0.000	T
USP26	83844	genome.wustl.edu	37	X	132161848	132161848	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:132161848T>G	ENST00000511190.1	-	6	870	c.401A>C	c.(400-402)aAa>aCa	p.K134T	USP26_ENST00000370832.1_Missense_Mutation_p.K134T|USP26_ENST00000406273.1_Missense_Mutation_p.K134T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	134					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTCATCAACTTTGTGGAATGA	0.418																																					NSCLC(104;342 1621 36940 47097 52632)	dbGAP											0													74.0	54.0	61.0					X																	132161848		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.401A>C	X.37:g.132161848T>G	ENSP00000423390:p.Lys134Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.K134T	ENST00000511190.1	37	c.401	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204919	0.38905	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.55930	0.49;0.49;0.49	4.01	-2.68	0.06041	.	1.881780	0.03072	N	0.157334	T	0.60130	0.2245	M	0.66939	2.045	0.09310	N	1	D	0.55605	0.972	P	0.53809	0.735	T	0.54892	-0.8225	10	0.72032	D	0.01	0.8769	5.2204	0.15366	0.0:0.4552:0.186:0.3588	.	134	Q9BXU7	UBP26_HUMAN	T	134	ENSP00000359869:K134T;ENSP00000423390:K134T;ENSP00000384360:K134T	ENSP00000359869:K134T	K	-	2	0	USP26	131989514	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.217000	0.09253	-0.694000	0.05113	0.417000	0.27973	AAA	USP26	-	NULL	ENSG00000134588		0.418	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	142	0.00	0	T	NM_031907		132161848	132161848	-1	no_errors	ENST00000370832	ensembl	human	known	69_37n	missense	121	14.18	20	SNP	0.000	G
USP31	57478	genome.wustl.edu	37	16	23080922	23080922	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:23080922C>T	ENST00000219689.7	-	16	2503	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	USP31_ENST00000567975.1_Missense_Mutation_p.R128Q	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CACAAATGGTCGAGTTGAAAA	0.443																																						dbGAP											0													43.0	38.0	40.0					16																	23080922		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2504G>A	16.37:g.23080922C>T	ENSP00000219689:p.Arg835Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R835Q	ENST00000219689.7	37	c.2504	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391166	0.62066	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10382	2.88	6.16	5.22	0.72569	.	0.082720	0.49916	N	0.000129	T	0.24547	0.0595	M	0.73217	2.22	0.58432	D	0.999999	P;P;D	0.61697	0.812;0.522;0.99	B;B;P	0.52881	0.072;0.049;0.712	T	0.01545	-1.1328	10	0.62326	D	0.03	-6.7874	14.6245	0.68611	0.0:0.931:0.0:0.069	.	138;835;128	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	Q	835;138	ENSP00000219689:R835Q	ENSP00000219689:R835Q	R	-	2	0	USP31	22988423	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	7.459000	0.80802	1.631000	0.50456	0.650000	0.86243	CGA	USP31	-	NULL	ENSG00000103404		0.443	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	67	0.00	0	C	NM_020718		23080922	23080922	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	T
USP32	84669	genome.wustl.edu	37	17	58260600	58260600	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:58260600G>A	ENST00000300896.4	-	31	4243	c.4049C>T	c.(4048-4050)tCg>tTg	p.S1350L	USP32_ENST00000592339.1_Missense_Mutation_p.S1020L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1350	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTCCCCAGCCGAACTCTGCGC	0.592																																						dbGAP											0													74.0	69.0	71.0					17																	58260600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4049C>T	17.37:g.58260600G>A	ENSP00000300896:p.Ser1350Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.S1350L	ENST00000300896.4	37	c.4049	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084713	0.36758	.	.	ENSG00000170832	ENST00000300896	T	0.45276	0.9	5.79	5.79	0.91817	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.795771	0.11989	N	0.509979	T	0.31231	0.0790	N	0.17082	0.46	0.80722	D	1	B	0.23591	0.088	B	0.16722	0.016	T	0.10636	-1.0621	10	0.18710	T	0.47	.	18.2173	0.89890	0.0:0.0:1.0:0.0	.	1350	Q8NFA0	UBP32_HUMAN	L	1350	ENSP00000300896:S1350L	ENSP00000300896:S1350L	S	-	2	0	USP32	55615382	0.938000	0.31826	0.559000	0.28332	0.707000	0.40811	4.989000	0.63870	2.741000	0.93983	0.557000	0.71058	TCG	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170832		0.592	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	137	0.00	0	G	NM_032582		58260600	58260600	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	97	22.40	28	SNP	0.293	A
USP34	9736	genome.wustl.edu	37	2	61577399	61577399	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61577399C>A	ENST00000398571.2	-	12	1579	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	501					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACTAACCTTTCTTATTTCCAA	0.303																																						dbGAP											0													70.0	66.0	67.0					2																	61577399		1809	4070	5879	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1503G>T	2.37:g.61577399C>A	ENSP00000381577:p.Lys501Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.K501N	ENST00000398571.2	37	c.1503	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689386	0.68271	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04234	3.67	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.11707	0.0285	L	0.44542	1.39	0.52501	D	0.999953	D	0.57899	0.981	D	0.69824	0.966	T	0.26467	-1.0102	10	0.21540	T	0.41	.	9.4641	0.38802	0.0:0.7969:0.0:0.2031	.	501	Q70CQ2	UBP34_HUMAN	N	349;349;501	ENSP00000381577:K501N	ENSP00000263989:K349N	K	-	3	2	USP34	61430903	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.494000	0.45329	1.474000	0.48178	-0.136000	0.14681	AAG	USP34	-	NULL	ENSG00000115464		0.303	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	114	0.00	0	C			61577399	61577399	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	85	29.75	36	SNP	1.000	A
USP39	10713	genome.wustl.edu	37	2	85857983	85857983	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:85857983G>A	ENST00000323701.6	+	6	873	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Missense_Mutation_p.R288Q|USP39_ENST00000450066.2_Missense_Mutation_p.R185Q|USP39_ENST00000409025.1_Missense_Mutation_p.R288Q|USP39_ENST00000409470.1_Missense_Mutation_p.R288Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	288	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGGAACCCTCGAAATTTCAAG	0.433																																						dbGAP											0													150.0	151.0	151.0					2																	85857983		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.863G>A	2.37:g.85857983G>A	ENSP00000312981:p.Arg288Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R288Q	ENST00000323701.6	37	c.863	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.894490	0.97074	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.30448	1.53;4.14;1.53;1.53;1.53	5.97	5.97	0.96955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.052791	0.64402	D	0.000001	T	0.52191	0.1719	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D;D	0.64830	0.979;0.961;0.986;0.989;0.994;0.991	P;P;P;P;P;P	0.60541	0.727;0.745;0.731;0.825;0.876;0.701	T	0.35649	-0.9780	10	0.30854	T	0.27	-21.3321	17.9074	0.88923	0.0:0.0:1.0:0.0	.	185;210;288;288;288;288	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	Q	185;288;288;288;288;288	ENSP00000396133:R185Q;ENSP00000386572:R288Q;ENSP00000386864:R288Q;ENSP00000312981:R288Q;ENSP00000386803:R288Q	ENSP00000312981:R288Q	R	+	2	0	USP39	85711494	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.347000	0.97059	2.835000	0.97688	0.591000	0.81541	CGA	USP39	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000168883		0.433	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	142	0.00	0	G	NM_006590		85857983	85857983	+1	no_errors	ENST00000409470	ensembl	human	known	69_37n	missense	172	14.00	28	SNP	1.000	A
USP37	57695	genome.wustl.edu	37	2	219399388	219399388	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:219399388G>T	ENST00000258399.3	-	9	1134	c.722C>A	c.(721-723)aCc>aAc	p.T241N	USP37_ENST00000418019.1_Missense_Mutation_p.T241N|USP37_ENST00000415516.1_Missense_Mutation_p.T169N|USP37_ENST00000338465.5_Missense_Mutation_p.T241N|USP37_ENST00000454775.1_Missense_Mutation_p.T241N	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	241					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TCTACTGCTGGTTAAATACTT	0.318																																						dbGAP											0													163.0	159.0	160.0					2																	219399388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.722C>A	2.37:g.219399388G>T	ENSP00000258399:p.Thr241Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.T241N	ENST00000258399.3	37	c.722	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571302	0.28003	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.42131	1.03;1.03;1.02;1.03;0.98	6.03	1.73	0.24493	.	0.562709	0.19483	N	0.113171	T	0.10981	0.0268	N	0.00538	-1.39	0.25597	N	0.986636	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25012	-1.0144	10	0.25106	T	0.35	-0.4685	4.883	0.13688	0.0776:0.2209:0.5274:0.1741	.	241;169;241	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	N	241;241;169;241;241	ENSP00000258399:T241N;ENSP00000393662:T241N;ENSP00000400902:T169N;ENSP00000396585:T241N;ENSP00000345043:T241N	ENSP00000258399:T241N	T	-	2	0	USP37	219107632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.348000	0.20031	0.417000	0.25871	-0.176000	0.13171	ACC	USP37	-	NULL	ENSG00000135913		0.318	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	493	0.00	0	G	NM_020935		219399388	219399388	-1	no_errors	ENST00000258399	ensembl	human	known	69_37n	missense	349	10.51	41	SNP	0.998	T
USP4	7375	genome.wustl.edu	37	3	49362185	49362185	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:49362185A>G	ENST00000265560.4	-	6	691	c.645T>C	c.(643-645)atT>atC	p.I215I	USP4_ENST00000416417.1_Silent_p.I215I|USP4_ENST00000415188.1_Silent_p.I215I|USP4_ENST00000351842.4_Silent_p.I215I	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	215	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.|Ubiquitin-like 1.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTTGAGGCTCAATTACTAGCA	0.458																																						dbGAP											0													109.0	104.0	106.0					3																	49362185		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.645T>C	3.37:g.49362185A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.I215	ENST00000265560.4	37	c.645	CCDS2793.1	3																																																																																			USP4	-	NULL	ENSG00000114316		0.458	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	100	0.00	0	A	NM_199443		49362185	49362185	-1	no_errors	ENST00000265560	ensembl	human	known	69_37n	silent	77	24.27	25	SNP	0.998	G
USP40	55230	genome.wustl.edu	37	2	234474155	234474155	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:234474155T>G	ENST00000427112.2	-	1	81	c.46A>C	c.(46-48)Aat>Cat	p.N16H	USP40_ENST00000450966.1_Missense_Mutation_p.N28H|USP40_ENST00000251722.6_Missense_Mutation_p.N16H|USP40_ENST00000443711.2_Missense_Mutation_p.N16H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	16					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCATACTGATTATTAGACACA	0.358																																						dbGAP											0													130.0	108.0	114.0					2																	234474155		692	1591	2283	-	-	-	SO:0001583	missense	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.46A>C	2.37:g.234474155T>G	ENSP00000387898:p.Asn16His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.N28H	ENST00000427112.2	37	c.82	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	T	15.12	2.739171	0.49045	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000435959;ENST00000443711	T;T;T	0.05319	3.46;3.46;3.46	5.95	2.28	0.28536	.	.	.	.	.	T	0.07052	0.0179	L	0.40543	1.245	0.22968	N	0.998492	P	0.43519	0.809	B	0.43225	0.412	T	0.29458	-1.0011	9	0.62326	D	0.03	.	6.0287	0.19669	0.1273:0.1325:0.0:0.7402	.	28	Q9NVE5-3	.	H	28;16;16;16;16	ENSP00000415434:N28H;ENSP00000251722:N16H;ENSP00000387898:N16H	ENSP00000251722:N16H	N	-	1	0	USP40	234148444	0.907000	0.30839	0.999000	0.59377	0.992000	0.81027	0.599000	0.24089	0.475000	0.27415	0.533000	0.62120	AAT	USP40	-	NULL	ENSG00000085982		0.358	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	205	0.00	0	T	XM_114294		234474155	234474155	-1	no_errors	ENST00000450966	ensembl	human	known	69_37n	missense	130	26.14	46	SNP	0.705	G
USP43	124739	genome.wustl.edu	37	17	9631995	9631996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:9631995_9631996insC	ENST00000285199.7	+	15	3156_3157	c.3060_3061insC	c.(3061-3063)cccfs	p.P1021fs	USP43_ENST00000570475.1_Frame_Shift_Ins_p.P1016fs|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1021					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTCCACAGGTGCCCCCCGTCTC	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3066dupC	17.37:g.9632001_9632001dupC	ENSP00000285199:p.Pro1021fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V1022fs	ENST00000285199.7	37	c.3060_3061	CCDS45610.1	17																																																																																			USP43	-	NULL	ENSG00000154914		0.653	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	33	0.00	0	-	NM_153210		9631995	9631996	+1	no_errors	ENST00000285199	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	0.000:0.000	C
USP47	55031	genome.wustl.edu	37	11	11951662	11951662	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:11951662C>T	ENST00000399455.2	+	14	1770	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Silent_p.F530F|USP47_ENST00000339865.5_Silent_p.F462F	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	550	USP.				base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTAGTGCTTTCGCAAGGTAAG	0.318																																						dbGAP											0													101.0	94.0	96.0					11																	11951662		1842	4069	5911	-	-	-	SO:0001819	synonymous_variant	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.1650C>T	11.37:g.11951662C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.F550	ENST00000399455.2	37	c.1650		11																																																																																			USP47	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170242		0.318	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	148	0.00	0	C	NM_017944		11951662	11951662	+1	no_errors	ENST00000399455	ensembl	human	known	69_37n	silent	96	17.24	20	SNP	1.000	T
USP47	55031	genome.wustl.edu	37	11	11962036	11962036	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:11962036C>T	ENST00000399455.2	+	20	2434	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.R752C|USP47_ENST00000339865.5_Missense_Mutation_p.R684C	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	772					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAATGATTTGCGTCTTCTCAG	0.343																																						dbGAP											0													99.0	95.0	96.0					11																	11962036		1850	4085	5935	-	-	-	SO:0001583	missense	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2314C>T	11.37:g.11962036C>T	ENSP00000382382:p.Arg772Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R772C	ENST00000399455.2	37	c.2314		11	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518856	0.85495	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.05199	3.5;3.48;3.48	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.69654	0.965;0.951;0.965	T	0.02933	-1.1092	10	0.34782	T	0.22	.	19.3107	0.94186	0.0:1.0:0.0:0.0	.	772;752;684	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	C	684;752;772	ENSP00000339957:R684C;ENSP00000433146:R752C;ENSP00000382382:R772C	ENSP00000339957:R684C	R	+	1	0	USP47	11918612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.356000	0.59430	2.658000	0.90341	0.655000	0.94253	CGT	USP47	-	NULL	ENSG00000170242		0.343	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	459	0.00	0	C	NM_017944		11962036	11962036	+1	no_errors	ENST00000399455	ensembl	human	known	69_37n	missense	323	13.14	49	SNP	1.000	T
USP48	84196	genome.wustl.edu	37	1	22021687	22021687	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:22021687T>C	ENST00000308271.9	-	23	3403	c.2755A>G	c.(2755-2757)Ata>Gta	p.I919V	USP48_ENST00000529637.1_Missense_Mutation_p.I931V|USP48_ENST00000374732.3_Intron|USP48_ENST00000400301.1_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	919					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGATGGGATATCTTTTGCCGC	0.378																																						dbGAP											0													144.0	137.0	139.0					1																	22021687		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2755A>G	1.37:g.22021687T>C	ENSP00000309262:p.Ile919Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.I919V	ENST00000308271.9	37	c.2755	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013783	0.35511	.	.	ENSG00000090686	ENST00000308271;ENST00000529637	T;T	0.04758	3.56;3.59	5.95	3.6	0.41247	.	0.239066	0.41938	D	0.000787	T	0.01870	0.0059	N	0.08118	0	0.80722	D	1	B;B;B;B	0.15141	0.0;0.012;0.012;0.001	B;B;B;B	0.14023	0.001;0.005;0.01;0.001	T	0.41342	-0.9514	10	0.02654	T	1	.	2.9649	0.05905	0.1329:0.0741:0.2757:0.5174	.	931;919;44;919	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5	.;.;.;UBP48_HUMAN	V	919;931	ENSP00000309262:I919V;ENSP00000431949:I931V	ENSP00000309262:I919V	I	-	1	0	USP48	21894274	0.992000	0.36948	0.956000	0.39512	0.970000	0.65996	0.481000	0.22260	0.482000	0.27582	-0.250000	0.11733	ATA	USP48	-	NULL	ENSG00000090686		0.378	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	391	0.00	0	T	NM_032236		22021687	22021687	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	missense	247	18.21	55	SNP	0.960	C
USP48	84196	genome.wustl.edu	37	1	22073596	22073596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:22073596C>A	ENST00000308271.9	-	8	1603	c.955G>T	c.(955-957)Gaa>Taa	p.E319*	USP48_ENST00000529637.1_Nonsense_Mutation_p.E319*|USP48_ENST00000421625.2_Nonsense_Mutation_p.E319*|USP48_ENST00000400301.1_Nonsense_Mutation_p.E319*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	319	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCCAAAATTTCTGAGAAGCCA	0.328																																						dbGAP											0													87.0	86.0	86.0					1																	22073596		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.955G>T	1.37:g.22073596C>A	ENSP00000309262:p.Glu319*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.E319*	ENST00000308271.9	37	c.955	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	45	11.313111	0.99545	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.1825	0.89782	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000309262:E319X	E	-	1	0	USP48	21946183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.665000	0.74442	2.529000	0.85273	0.557000	0.71058	GAA	USP48	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000090686		0.328	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	551	0.00	0	C	NM_032236		22073596	22073596	-1	no_errors	ENST00000308271	ensembl	human	known	69_37n	nonsense	340	15.42	62	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22084134	22084134	+	Intron	SNP	C	C	T	rs113756872		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:22084134C>T	ENST00000308271.9	-	2	904				USP48_ENST00000529637.1_Intron|USP48_ENST00000421625.2_Intron|USP48_ENST00000400301.1_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATATAGCAATCGCTTAAAAAA	0.338																																						dbGAP											0													82.0	76.0	78.0					1																	22084134		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.255+21G>A	1.37:g.22084134C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	RNA	SNP	-	NULL	ENST00000308271.9	37	NULL	CCDS30623.1	1																																																																																			USP48	-	-	ENSG00000090686		0.338	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	126	0.00	0	C	NM_032236		22084134	22084134	-1	no_errors	ENST00000489108	ensembl	human	known	69_37n	rna	64	11.11	8	SNP	0.002	T
USP5	8078	genome.wustl.edu	37	12	6965602	6965602	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6965602G>A	ENST00000229268.8	+	5	624	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	USP5_ENST00000389231.5_Missense_Mutation_p.R191Q	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	191					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AACCCTGCTCGAATCCCTCCC	0.627																																						dbGAP											0													76.0	71.0	73.0					12																	6965602		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.572G>A	12.37:g.6965602G>A	ENSP00000229268:p.Arg191Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R191Q	ENST00000229268.8	37	c.572	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791868	0.70452	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.29397	1.57;1.57	4.67	4.67	0.58626	Zinc finger, RING/FYVE/PHD-type (1);	0.059873	0.64402	D	0.000003	T	0.34832	0.0911	L	0.58428	1.81	0.54753	D	0.999982	D;D	0.56035	0.962;0.974	B;P	0.44860	0.341;0.462	T	0.12528	-1.0544	10	0.21540	T	0.41	.	17.7769	0.88511	0.0:0.0:1.0:0.0	.	191;191	P45974;P45974-2	UBP5_HUMAN;.	Q	191	ENSP00000229268:R191Q;ENSP00000373883:R191Q	ENSP00000229268:R191Q	R	+	2	0	USP5	6835863	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.968000	0.70413	2.423000	0.82170	0.453000	0.30009	CGA	USP5	-	pirsf_Ubiquitinyl_hydrolase	ENSG00000111667		0.627	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	47	0.00	0	G			6965602	6965602	+1	no_errors	ENST00000229268	ensembl	human	known	69_37n	missense	24	30.56	11	SNP	1.000	A
USP53	54532	genome.wustl.edu	37	4	120192984	120192984	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:120192984G>T	ENST00000274030.6	+	16	3148	c.1969G>T	c.(1969-1971)Gaa>Taa	p.E657*	USP53_ENST00000450251.1_Nonsense_Mutation_p.E657*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AAGTTCCCTTGAATCTAATGG	0.378																																						dbGAP											0													123.0	111.0	115.0					4																	120192984		1849	4096	5945	-	-	-	SO:0001587	stop_gained	0			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1969G>T	4.37:g.120192984G>T	ENSP00000274030:p.Glu657*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E657*	ENST00000274030.6	37	c.1969	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	G	44	10.731106	0.99458	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.58	5.58	0.84498	.	0.896321	0.09815	N	0.752280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.9581	17.7465	0.88422	0.0:0.0:1.0:0.0	.	.	.	.	X	657	.	ENSP00000274030:E657X	E	+	1	0	USP53	120412432	1.000000	0.71417	0.514000	0.27761	0.985000	0.73830	9.184000	0.94893	2.619000	0.88677	0.563000	0.77884	GAA	USP53	-	NULL	ENSG00000145390		0.378	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	154	0.00	0	G	XM_052597		120192984	120192984	+1	no_errors	ENST00000274030	ensembl	human	known	69_37n	nonsense	92	16.36	18	SNP	1.000	T
USP7	7874	genome.wustl.edu	37	16	9009376	9009376	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:9009376C>T	ENST00000344836.4	-	9	1111	c.913G>A	c.(913-915)Gat>Aat	p.D305N	USP7_ENST00000535863.1_Missense_Mutation_p.D206N|USP7_ENST00000381886.4_Missense_Mutation_p.D289N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	305	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCACATTATCGAGCAACTGA	0.328																																						dbGAP											0													88.0	82.0	84.0					16																	9009376		2197	4300	6497	-	-	-	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.913G>A	16.37:g.9009376C>T	ENSP00000343535:p.Asp305Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.D305N	ENST00000344836.4	37	c.913	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556345	0.86231	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.07021	3.23;3.23;3.23	5.89	5.89	0.94794	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65323	0.934;0.934	T	0.01661	-1.1301	10	0.72032	D	0.01	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	305;289	Q93009;B7Z815	UBP7_HUMAN;.	N	305;313;206;206;247	ENSP00000343535:D305N;ENSP00000443646:D206N;ENSP00000439272:D247N	ENSP00000343535:D305N	D	-	1	0	USP7	8916877	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.726000	0.84824	2.793000	0.96121	0.655000	0.94253	GAT	USP7	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000187555		0.328	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	466	0.00	0	C			9009376	9009376	-1	no_errors	ENST00000344836	ensembl	human	known	69_37n	missense	254	13.90	41	SNP	1.000	T
USP8	9101	genome.wustl.edu	37	15	50773883	50773883	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:50773883A>C	ENST00000396444.3	+	11	1762	c.1424A>C	c.(1423-1425)aAa>aCa	p.K475T	USP8_ENST00000307179.4_Missense_Mutation_p.K475T|USP8_ENST00000433963.1_Missense_Mutation_p.K475T|USP8_ENST00000425032.3_Missense_Mutation_p.K398T	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	475					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAATGgaaaaaaacaaacaa	0.388																																						dbGAP											0													59.0	65.0	63.0					15																	50773883		2194	4294	6488	-	-	-	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1424A>C	15.37:g.50773883A>C	ENSP00000379721:p.Lys475Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.K475T	ENST00000396444.3	37	c.1424	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847653	0.71603	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.19	5.19	0.71726	.	0.239408	0.41823	N	0.000820	T	0.59459	0.2195	L	0.36672	1.1	0.58432	D	0.999998	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.991;0.991;0.997	T	0.61874	-0.6973	10	0.56958	D	0.05	-24.7713	15.0475	0.71838	1.0:0.0:0.0:0.0	.	398;475;475	B4DKA8;P40818;A8K8N5	.;UBP8_HUMAN;.	T	475;475;475;398	ENSP00000379721:K475T;ENSP00000405537:K475T;ENSP00000302239:K475T;ENSP00000412682:K398T	ENSP00000302239:K475T	K	+	2	0	USP8	48561175	1.000000	0.71417	0.994000	0.49952	0.915000	0.54546	7.380000	0.79704	1.947000	0.56498	0.455000	0.32223	AAA	USP8	-	NULL	ENSG00000138592		0.388	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	671	0.15	1	A	NM_005154		50773883	50773883	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	missense	539	15.12	96	SNP	1.000	C
USP8	9101	genome.wustl.edu	37	15	50773900	50773900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:50773900G>T	ENST00000396444.3	+	11	1779	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	USP8_ENST00000307179.4_Nonsense_Mutation_p.E481*|USP8_ENST00000433963.1_Nonsense_Mutation_p.E481*|USP8_ENST00000425032.3_Nonsense_Mutation_p.E404*	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	481					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		acaagaaaaagaacttcggga	0.368																																						dbGAP											0													51.0	58.0	56.0					15																	50773900		2195	4292	6487	-	-	-	SO:0001587	stop_gained	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.1441G>T	15.37:g.50773900G>T	ENSP00000379721:p.Glu481*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.E481*	ENST00000396444.3	37	c.1441	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.407025	0.96051	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-23.3774	18.7133	0.91666	0.0:0.0:1.0:0.0	.	.	.	.	X	481;481;481;404	.	ENSP00000302239:E481X	E	+	1	0	USP8	48561192	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.925000	0.70062	2.404000	0.81709	0.557000	0.71058	GAA	USP8	-	NULL	ENSG00000138592		0.368	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	770	0.00	0	G	NM_005154		50773900	50773900	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	nonsense	532	28.49	212	SNP	1.000	T
USP9X	8239	genome.wustl.edu	37	X	41010191	41010191	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:41010191G>T	ENST00000324545.8	+	13	2277	c.1644G>T	c.(1642-1644)aaG>aaT	p.K548N	USP9X_ENST00000378308.2_Missense_Mutation_p.K548N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	548					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATACACAAAAGATCCAATGGA	0.294																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													42.0	39.0	40.0					X																	41010191		2150	4265	6415	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1644G>T	X.37:g.41010191G>T	ENSP00000316357:p.Lys548Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.K548N	ENST00000324545.8	37	c.1644	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452835	0.63290	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04706	3.57;3.57	5.19	2.48	0.30137	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	M	0.80183	2.485	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.00074	-1.2123	10	0.59425	D	0.04	.	9.0553	0.36401	0.3087:0.0:0.6913:0.0	.	548;548	Q93008-1;Q93008	.;USP9X_HUMAN	N	548	ENSP00000367558:K548N;ENSP00000316357:K548N	ENSP00000316357:K548N	K	+	3	2	USP9X	40895135	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	6.326000	0.72905	0.097000	0.17492	0.468000	0.43344	AAG	USP9X	-	superfamily_ARM-type_fold	ENSG00000124486		0.294	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	198	0.00	0	G	NM_004652		41010191	41010191	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	96	12.73	14	SNP	1.000	T
USPL1	10208	genome.wustl.edu	37	13	31205015	31205015	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:31205015C>A	ENST00000255304.4	+	4	614	c.272C>A	c.(271-273)tCt>tAt	p.S91Y	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	91					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AACCTAATTTCTCCTGATTTG	0.323																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											0													57.0	61.0	60.0					13																	31205015		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.272C>A	13.37:g.31205015C>A	ENSP00000255304:p.Ser91Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	pfscan_Peptidase_C19	p.S91Y	ENST00000255304.4	37	c.272	CCDS9336.1	13	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614056	0.46631	.	.	ENSG00000132952	ENST00000255304	T	0.09255	3.0	6.07	3.33	0.38152	.	0.523265	0.21770	N	0.069379	T	0.32255	0.0823	M	0.73598	2.24	0.29430	N	0.859955	D	0.76494	0.999	D	0.65874	0.939	T	0.31943	-0.9925	10	0.87932	D	0	-5.4483	16.3558	0.83235	0.0:0.6768:0.3232:0.0	.	91	Q5W0Q7	USPL1_HUMAN	Y	91	ENSP00000255304:S91Y	ENSP00000255304:S91Y	S	+	2	0	USPL1	30103015	0.988000	0.35896	0.952000	0.39060	0.143000	0.21401	0.838000	0.27572	0.405000	0.25532	0.655000	0.94253	TCT	USPL1	-	NULL	ENSG00000132952		0.323	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	120	0.00	0	C	NM_005800		31205015	31205015	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	missense	67	10.67	8	SNP	0.965	A
USPL1	10208	genome.wustl.edu	37	13	31233466	31233466	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:31233466C>T	ENST00000255304.4	+	9	3594	c.3252C>T	c.(3250-3252)ttC>ttT	p.F1084F		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1084					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TACCTCATTTCGATGAATATC	0.299																																					Ovarian(60;318 1180 1554 28110 31601)	dbGAP											0													58.0	60.0	59.0					13																	31233466		2197	4292	6489	-	-	-	SO:0001819	synonymous_variant	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.3252C>T	13.37:g.31233466C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.F1084	ENST00000255304.4	37	c.3252	CCDS9336.1	13																																																																																			USPL1	-	NULL	ENSG00000132952		0.299	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	84	0.00	0	C	NM_005800		31233466	31233466	+1	no_errors	ENST00000255304	ensembl	human	known	69_37n	silent	54	28.95	22	SNP	0.989	T
UTP11L	51118	genome.wustl.edu	37	1	38482041	38482041	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:38482041G>A	ENST00000373014.4	+	2	135	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	UTP11L_ENST00000537711.1_Missense_Mutation_p.R25Q	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	25					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGGCTTTCGAAAACATCTG	0.448																																						dbGAP											0													142.0	136.0	138.0					1																	38482041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.74G>A	1.37:g.38482041G>A	ENSP00000362105:p.Arg25Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11	p.R25Q	ENST00000373014.4	37	c.74	CCDS429.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.238370	0.95240	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.89891	0.6846	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92535	0.6037	9	0.87932	D	0	-3.6796	19.45	0.94862	0.0:0.0:1.0:0.0	.	25	Q9Y3A2	UTP11_HUMAN	Q	25	.	ENSP00000362105:R25Q	R	+	2	0	UTP11L	38254628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.350000	0.79385	2.691000	0.91804	0.561000	0.74099	CGA	UTP11L	-	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11	ENSG00000183520		0.448	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	HGNC	protein_coding	OTTHUMT00000012962.1	198	0.50	1	G	NM_016037		38482041	38482041	+1	no_errors	ENST00000373014	ensembl	human	known	69_37n	missense	178	15.96	34	SNP	1.000	A
UTP15	84135	genome.wustl.edu	37	5	72866464	72866464	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:72866464C>A	ENST00000296792.4	+	6	856	c.601C>A	c.(601-603)Ctc>Atc	p.L201I	UTP15_ENST00000508491.1_Missense_Mutation_p.L182I|UTP15_ENST00000543251.1_Missense_Mutation_p.L11I	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	201					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TGAGAGTGTTCTCTCCGTTGA	0.403																																						dbGAP											0													160.0	148.0	152.0					5																	72866464		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.601C>A	5.37:g.72866464C>A	ENSP00000296792:p.Leu201Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L201I	ENST00000296792.4	37	c.601	CCDS34186.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.717|9.717	1.158525|1.158525	0.21454|0.21454	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000509005|ENST00000296792;ENST00000543251;ENST00000508491	.|T;T;T	.|0.40476	.|2.2;1.03;2.2	5.85|5.85	2.95|2.95	0.34219|0.34219	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.235442	.|0.46758	.|N	.|0.000279	T|T	0.28797|0.28797	0.0714|0.0714	L|L	0.33245|0.33245	0.995|0.995	0.32990|0.32990	D|D	0.524893|0.524893	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.004;0.002	T|T	0.30238|0.30238	-0.9985|-0.9985	5|10	.|0.17832	.|T	.|0.49	.|.	10.7003|10.7003	0.45924|0.45924	0.6065:0.2991:0.0944:0.0|0.6065:0.2991:0.0944:0.0	.|.	.|182;201	.|B4DXK8;Q8TED0	.|.;UTP15_HUMAN	L|I	227|201;11;182	.|ENSP00000296792:L201I;ENSP00000440796:L11I;ENSP00000424609:L182I	.|ENSP00000296792:L201I	F|L	+|+	3|1	2|0	UTP15|UTP15	72902220|72902220	0.837000|0.837000	0.29446|0.29446	0.893000|0.893000	0.35052|0.35052	0.655000|0.655000	0.38815|0.38815	0.372000|0.372000	0.20467|0.20467	0.305000|0.305000	0.22832|0.22832	0.655000|0.655000	0.94253|0.94253	TTC|CTC	UTP15	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000164338		0.403	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP15	HGNC	protein_coding	OTTHUMT00000368965.1	398	0.25	1	C	NM_032175		72866464	72866464	+1	no_errors	ENST00000296792	ensembl	human	known	69_37n	missense	188	23.27	57	SNP	0.987	A
UTP18	51096	genome.wustl.edu	37	17	49346251	49346251	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:49346251A>C	ENST00000225298.7	+	4	665	c.608A>C	c.(607-609)aAa>aCa	p.K203T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	203					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ACTAAGCGGAAAACATCTTCA	0.373																																						dbGAP											0													95.0	97.0	96.0					17																	49346251		1852	4097	5949	-	-	-	SO:0001583	missense	0			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.608A>C	17.37:g.49346251A>C	ENSP00000225298:p.Lys203Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4N6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K203T	ENST00000225298.7	37	c.608	CCDS42362.1	17	.	.	.	.	.	.	.	.	.	.	A	3.919	-0.018537	0.07681	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.30981	1.51	5.75	3.49	0.39957	.	0.316370	0.37012	N	0.002296	T	0.30823	0.0777	M	0.68317	2.08	0.26719	N	0.970822	B	0.12013	0.005	B	0.15870	0.014	T	0.23048	-1.0199	10	0.48119	T	0.1	-12.1193	9.2525	0.37564	0.8063:0.1247:0.0689:0.0	.	203	Q9Y5J1	UTP18_HUMAN	T	203;179	ENSP00000225298:K203T	ENSP00000225298:K203T	K	+	2	0	UTP18	46701250	1.000000	0.71417	0.985000	0.45067	0.106000	0.19336	1.548000	0.36201	0.089000	0.17243	-1.334000	0.01262	AAA	UTP18	-	NULL	ENSG00000011260		0.373	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP18	HGNC	protein_coding	OTTHUMT00000368654.1	445	0.22	1	A	NM_016001		49346251	49346251	+1	no_errors	ENST00000225298	ensembl	human	known	69_37n	missense	321	13.71	51	SNP	0.991	C
UVSSA	57654	genome.wustl.edu	37	4	1345582	1345582	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:1345582T>G	ENST00000389851.4	+	4	956	c.509T>G	c.(508-510)aTt>aGt	p.I170S	UVSSA_ENST00000507531.1_Missense_Mutation_p.I170S|UVSSA_ENST00000511216.1_Missense_Mutation_p.I170S	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	170					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										TTGGATAAAATTTATCAAGAA	0.522											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													65.0	75.0	72.0					4																	1345582		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.509T>G	4.37:g.1345582T>G	ENSP00000374501:p.Ile170Ser	Somatic	595	WXS	Illumina GAIIx	Phase_IV	A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.I170S	ENST00000389851.4	37	c.509	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297466	0.60086	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.36520	1.25;1.25;1.25	5.11	5.11	0.69529	.	0.153291	0.56097	D	0.000026	T	0.58538	0.2129	M	0.80028	2.48	0.80722	D	1	D	0.65815	0.995	P	0.59357	0.856	T	0.65869	-0.6063	10	0.87932	D	0	.	14.892	0.70617	0.0:0.0:0.0:1.0	.	170	Q2YD98	K1530_HUMAN	S	170	ENSP00000425130:I170S;ENSP00000374501:I170S;ENSP00000421741:I170S	ENSP00000374501:I170S	I	+	2	0	KIAA1530	1335582	1.000000	0.71417	0.025000	0.17156	0.355000	0.29361	6.347000	0.73004	1.934000	0.56057	0.459000	0.35465	ATT	UVSSA	-	NULL	ENSG00000163945		0.522	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	41	0.00	0	T	NM_020894		1345582	1345582	+1	no_errors	ENST00000389851	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.997	G
UXT	8409	genome.wustl.edu	37	X	47517210	47517210	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47517210G>T	ENST00000333119.3	-	3	206	c.151C>A	c.(151-153)Caa>Aaa	p.Q51K	UXT_ENST00000335890.2_Missense_Mutation_p.Q63K|UXT_ENST00000460840.1_5'Flank|RP1-212G6.7_ENST00000591832.1_RNA|RP1-212G6.7_ENST00000590504.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	51					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TTTCTCAGTTGAAGGTATTTG	0.478																																						dbGAP											0													123.0	89.0	100.0					X																	47517210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.151C>A	X.37:g.47517210G>T	ENSP00000327797:p.Gln51Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.Q63K	ENST00000333119.3	37	c.187	CCDS14285.1	X	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242713	0.79912	.	.	ENSG00000126756	ENST00000333119;ENST00000335890;ENST00000376964	T;T	0.39229	1.09;1.09	5.35	5.35	0.76521	Prefoldin (1);Prefoldin subunit (1);	0.066608	0.64402	D	0.000011	T	0.60534	0.2276	M	0.74881	2.28	0.40609	D	0.981656	D;P	0.67145	0.996;0.954	D;D	0.66602	0.945;0.932	T	0.59989	-0.7350	10	0.31617	T	0.26	-9.1823	13.0206	0.58784	0.0:0.0:1.0:0.0	.	51;51	Q9UBK9;B1AJQ0	UXT_HUMAN;.	K	51;63;51	ENSP00000327797:Q51K;ENSP00000337393:Q63K	ENSP00000327797:Q51K	Q	-	1	0	UXT	47402154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.265000	0.65519	2.474000	0.83562	0.600000	0.82982	CAA	UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	ENSG00000126756		0.478	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	488	0.00	0	G	NM_153477		47517210	47517210	-1	no_errors	ENST00000335890	ensembl	human	known	69_37n	missense	305	14.33	51	SNP	1.000	T
VAMP7	6845	genome.wustl.edu	37	X	155119139	155119139	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:155119139C>A	ENST00000286448.6	+	2	175	c.10C>A	c.(10-12)Ctt>Att	p.L4I	VAMP7_ENST00000262640.6_Missense_Mutation_p.L4I|VAMP7_ENST00000460621.1_Missense_Mutation_p.L4I|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	4					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATGGCGATTCTTTTTGCTGT	0.403																																						dbGAP											0													252.0	249.0	250.0					X																	155119139		2203	4296	6499	-	-	-	SO:0001583	missense	0			AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.10C>A	X.37:g.155119139C>A	ENSP00000286448:p.Leu4Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	superfamily_Longin-like_dom,pfscan_Longin_dom	p.L4I	ENST00000286448.6	37	c.10	CCDS14770.4	X	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618175	0.46736	.	.	ENSG00000124333	ENST00000286448;ENST00000262640;ENST00000460621	T;T;T	0.26518	1.87;1.87;1.73	2.83	2.83	0.33086	Longin (1);Longin-like (1);	0.064020	0.64402	D	0.000005	T	0.31638	0.0803	.	.	.	0.09310	N	1	D;B;B	0.62365	0.991;0.438;0.413	P;P;P	0.61800	0.894;0.749;0.533	T	0.10222	-1.0639	9	0.13108	T	0.6	.	10.9779	0.47478	0.0:1.0:0.0:0.0	.	4;4;4	P51809-3;P51809-2;P51809	.;.;VAMP7_HUMAN	I	4	ENSP00000286448:L4I;ENSP00000262640:L4I;ENSP00000427822:L4I	ENSP00000262640:L4I	L	+	1	0	VAMP7	154772333	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.906000	0.69900	1.712000	0.51347	0.287000	0.19450	CTT	VAMP7	-	superfamily_Longin-like_dom	ENSG00000124333		0.403	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP7	HGNC	protein_coding	OTTHUMT00000058843.1	846	0.00	0	C	NM_005638		155119139	155119139	+1	no_errors	ENST00000262640	ensembl	human	known	69_37n	missense	567	12.50	81	SNP	1.000	A
VANGL2	57216	genome.wustl.edu	37	1	160389056	160389056	+	Missense_Mutation	SNP	G	G	A	rs201184424		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:160389056G>A	ENST00000368061.2	+	4	931	c.457G>A	c.(457-459)Gcc>Acc	p.A153T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	153					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCTCTGTCGCCTTCAAGCT	0.657																																						dbGAP											0													56.0	55.0	56.0					1																	160389056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.457G>A	1.37:g.160389056G>A	ENSP00000357040:p.Ala153Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.A153T	ENST00000368061.2	37	c.457	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.055839	0.93793	.	.	ENSG00000162738	ENST00000368061	D	0.83755	-1.76	5.08	5.08	0.68730	.	0.059576	0.64402	N	0.000003	D	0.89420	0.6710	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90078	0.4168	10	0.62326	D	0.03	-19.6594	17.3919	0.87434	0.0:0.0:1.0:0.0	.	153	Q9ULK5	VANG2_HUMAN	T	153	ENSP00000357040:A153T	ENSP00000357040:A153T	A	+	1	0	VANGL2	158655680	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.341000	0.97041	2.503000	0.84419	0.563000	0.77884	GCC	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.657	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	144	0.00	0	G	NM_020335		160389056	160389056	+1	no_errors	ENST00000368061	ensembl	human	known	69_37n	missense	77	12.36	11	SNP	1.000	A
VASH1	22846	genome.wustl.edu	37	14	77242408	77242408	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:77242408C>T	ENST00000167106.4	+	5	1337	c.704C>T	c.(703-705)aCg>aTg	p.T235M	VASH1_ENST00000554743.1_5'Flank|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	235					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GCCTTCCGCACGCTCAGCGAG	0.677																																						dbGAP											0													29.0	27.0	28.0					14																	77242408		2199	4298	6497	-	-	-	SO:0001583	missense	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.704C>T	14.37:g.77242408C>T	ENSP00000167106:p.Thr235Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	NULL	p.T235M	ENST00000167106.4	37	c.704	CCDS9851.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.144301	0.94603	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.22	5.22	0.72569	.	0.049162	0.85682	D	0.000000	T	0.76485	0.3994	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.64237	0.923	T	0.79169	-0.1914	9	0.87932	D	0	-14.5363	18.7697	0.91887	0.0:1.0:0.0:0.0	.	235	Q7L8A9	VASH1_HUMAN	M	235	.	ENSP00000167106:T235M	T	+	2	0	VASH1	76312161	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.798000	0.85924	2.433000	0.82419	0.655000	0.94253	ACG	VASH1	-	NULL	ENSG00000071246		0.677	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	17	0.00	0	C	NM_014909		77242408	77242408	+1	no_errors	ENST00000167106	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	T
VCAM1	7412	genome.wustl.edu	37	1	101186183	101186183	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:101186183G>A	ENST00000294728.2	+	2	317	c.216G>A	c.(214-216)acG>acA	p.T72T	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Silent_p.T72T|VCAM1_ENST00000347652.2_Silent_p.T72T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	72	Ig-like C2-type 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAAGGTGACGAATGAGGGGA	0.468																																						dbGAP											0													100.0	86.0	91.0					1																	101186183		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.216G>A	1.37:g.101186183G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.T72	ENST00000294728.2	37	c.216	CCDS773.1	1																																																																																			VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162692		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	181	0.00	0	G	NM_001078		101186183	101186183	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	silent	89	27.64	34	SNP	0.000	A
VCAM1	7412	genome.wustl.edu	37	1	101194904	101194904	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:101194904G>T	ENST00000294728.2	+	5	1271	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	VCAM1_ENST00000370119.4_Missense_Mutation_p.K328N|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	390	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGACATAAGAAACTGGAAA	0.428																																						dbGAP											0													105.0	114.0	111.0					1																	101194904		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1170G>T	1.37:g.101194904G>T	ENSP00000294728:p.Lys390Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.K390N	ENST00000294728.2	37	c.1170	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420229	0.25552	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.67523	-0.27;-0.27	5.53	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.523168	0.22864	N	0.054703	T	0.69024	0.3065	M	0.75447	2.3	0.80722	D	1	P;P	0.45428	0.551;0.858	B;P	0.51945	0.419;0.685	T	0.75127	-0.3427	10	0.87932	D	0	-4.1195	14.0778	0.64900	0.0726:0.0:0.9274:0.0	.	328;390	E9PDD1;P19320	.;VCAM1_HUMAN	N	328;390	ENSP00000359137:K328N;ENSP00000294728:K390N	ENSP00000294728:K390N	K	+	3	2	VCAM1	100967492	1.000000	0.71417	0.048000	0.18961	0.056000	0.15407	3.727000	0.54984	1.570000	0.49709	0.655000	0.94253	AAG	VCAM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162692		0.428	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	251	0.00	0	G	NM_001078		101194904	101194904	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	missense	161	12.97	24	SNP	0.755	T
VCAM1	7412	genome.wustl.edu	37	1	101200232	101200232	+	Missense_Mutation	SNP	G	G	A	rs200879051		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:101200232G>A	ENST00000294728.2	+	8	2068	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	VCAM1_ENST00000370119.4_Missense_Mutation_p.R594Q|VCAM1_ENST00000370115.1_Missense_Mutation_p.R457Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.R564Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	656	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.R656Q(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TATACCATCCGAAAGGCCCAG	0.393																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											92.0	96.0	95.0					1																	101200232		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1967G>A	1.37:g.101200232G>A	ENSP00000294728:p.Arg656Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.R656Q	ENST00000294728.2	37	c.1967	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.439050	0.12104	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.77	-3.22	0.05125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.857483	0.11060	N	0.604085	T	0.15262	0.0368	L	0.28649	0.875	0.09310	N	1	B;B;B	0.19200	0.002;0.0;0.034	B;B;B	0.14578	0.001;0.001;0.011	T	0.16100	-1.0414	10	0.12430	T	0.62	-0.0142	0.7736	0.01028	0.386:0.1774:0.2446:0.192	.	594;564;656	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	Q	594;564;656;457	ENSP00000359137:R594Q;ENSP00000304611:R564Q;ENSP00000294728:R656Q;ENSP00000359133:R457Q	ENSP00000294728:R656Q	R	+	2	0	VCAM1	100972820	0.000000	0.05858	0.262000	0.24481	0.187000	0.23431	-1.234000	0.02931	-0.386000	0.07821	-0.122000	0.15005	CGA	VCAM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162692		0.393	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	379	0.26	1	G	NM_001078		101200232	101200232	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	missense	202	17.41	43	SNP	0.001	A
VAV3	10451	genome.wustl.edu	37	1	108293776	108293776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:108293776G>A	ENST00000370056.4	-	13	1496	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	VAV3_ENST00000527011.1_Nonsense_Mutation_p.R408*|VAV3_ENST00000371846.4_Nonsense_Mutation_p.R343*|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTGGTTATTCGAATTTCACCA	0.318																																						dbGAP											0													118.0	113.0	115.0					1																	108293776		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1222C>T	1.37:g.108293776G>A	ENSP00000359073:p.Arg408*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.R408*	ENST00000370056.4	37	c.1222	CCDS785.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.622168	0.98396	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846	.	.	.	5.5	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	11.0142	0.47679	0.0:0.0:0.5865:0.4135	.	.	.	.	X	408;408;343	.	ENSP00000359073:R408X	R	-	1	2	VAV3	108095299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.771000	0.55318	2.591000	0.87537	0.563000	0.77884	CGA	VAV3	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000134215		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	418	0.00	0	G	NM_006113		108293776	108293776	-1	no_errors	ENST00000370056	ensembl	human	known	69_37n	nonsense	277	13.17	42	SNP	1.000	A
VCAN	1462	genome.wustl.edu	37	5	82835239	82835239	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:82835239C>A	ENST00000265077.3	+	8	6982	c.6417C>A	c.(6415-6417)atC>atA	p.I2139I	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.I1152I|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2139	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACAAACAATCTTTGATTCAC	0.333																																						dbGAP											0													47.0	49.0	48.0					5																	82835239		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6417C>A	5.37:g.82835239C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.I2139	ENST00000265077.3	37	c.6417	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.333	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	84	0.00	0	C	NM_004385		82835239	82835239	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	silent	84	15.15	15	SNP	0.012	A
VDAC2	7417	genome.wustl.edu	37	10	76982111	76982111	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:76982111G>A	ENST00000332211.6	+	8	899	c.686G>A	c.(685-687)cGt>cAt	p.R229H	VDAC2_ENST00000543351.1_Missense_Mutation_p.R229H|VDAC2_ENST00000313132.4_Missense_Mutation_p.R244H|VDAC2_ENST00000535553.1_Missense_Mutation_p.R190H	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	229					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	AACTGCACTCGTTTTGGCATT	0.418																																						dbGAP											0													124.0	121.0	122.0					10																	76982111		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.686G>A	10.37:g.76982111G>A	ENSP00000361686:p.Arg229His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.R244H	ENST00000332211.6	37	c.731	CCDS7348.1	10	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852813	0.71719	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000332211;ENST00000535553;ENST00000313132	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.2	5.2	0.72013	.	0.052313	0.85682	D	0.000000	T	0.45816	0.1361	M	0.65677	2.01	0.80722	D	1	B;B;B	0.21071	0.051;0.015;0.009	B;B;B	0.14023	0.008;0.01;0.008	T	0.39440	-0.9614	10	0.44086	T	0.13	.	19.0952	0.93248	0.0:0.0:1.0:0.0	.	190;244;229	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	H	229;229;229;190;244	ENSP00000298468:R229H;ENSP00000443092:R229H;ENSP00000361686:R229H;ENSP00000445901:R190H;ENSP00000361635:R244H	ENSP00000298468:R229H	R	+	2	0	VDAC2	76652117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.966000	0.87956	2.591000	0.87537	0.563000	0.77884	CGT	VDAC2	-	pfam_Porin_Euk	ENSG00000165637		0.418	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC2	HGNC	protein_coding	OTTHUMT00000048792.1	181	0.00	0	G	NM_003375		76982111	76982111	+1	no_errors	ENST00000313132	ensembl	human	known	69_37n	missense	167	11.64	22	SNP	1.000	A
VEPH1	79674	genome.wustl.edu	37	3	157131780	157131780	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:157131780G>A	ENST00000362010.2	-	6	1103	c.796C>T	c.(796-798)Cca>Tca	p.P266S	VEPH1_ENST00000543418.1_Missense_Mutation_p.P266S|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.P266S|VEPH1_ENST00000392832.2_Missense_Mutation_p.P266S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	266						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AAAGCCACTGGCTCATAGACT	0.433																																						dbGAP											0													134.0	134.0	134.0					3																	157131780		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.796C>T	3.37:g.157131780G>A	ENSP00000354919:p.Pro266Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P266S	ENST00000362010.2	37	c.796	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952449	0.73787	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.9	5.9	0.94986	.	0.151669	0.64402	D	0.000010	T	0.63367	0.2505	L	0.45051	1.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.60520	-0.7247	10	0.49607	T	0.09	-0.4919	18.4595	0.90734	0.0:0.0:1.0:0.0	.	266;266	Q14D04-2;Q14D04	.;MELT_HUMAN	S	266	ENSP00000376578:P266S;ENSP00000354919:P266S;ENSP00000446258:P266S;ENSP00000376577:P266S	ENSP00000354919:P266S	P	-	1	0	VEPH1	158614474	1.000000	0.71417	0.177000	0.23020	0.833000	0.47200	6.639000	0.74314	2.788000	0.95919	0.650000	0.86243	CCA	VEPH1	-	superfamily_ARM-type_fold	ENSG00000197415		0.433	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	556	0.18	1	G	NM_024621		157131780	157131780	-1	no_errors	ENST00000362010	ensembl	human	known	69_37n	missense	398	15.29	72	SNP	0.902	A
VIL1	7429	genome.wustl.edu	37	2	219305528	219305528	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:219305528G>A	ENST00000248444.5	+	19	2401	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q	VIL1_ENST00000392114.2_Silent_p.Q460Q	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	771	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGGAGCAGCTAGTGAACA	0.527																																						dbGAP											0													52.0	52.0	52.0					2																	219305528		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2313G>A	2.37:g.219305528G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.Q771	ENST00000248444.5	37	c.2313	CCDS2417.1	2																																																																																			VIL1	-	superfamily_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000127831		0.527	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	84	0.00	0	G	NM_007127		219305528	219305528	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	silent	81	10.99	10	SNP	1.000	A
VLDLR	7436	genome.wustl.edu	37	9	2643634	2643634	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:2643634G>A	ENST00000382100.3	+	6	1183	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.R276Q	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	276	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTAGCCTCTCGAACTTGCCGA	0.488																																						dbGAP											0													138.0	111.0	120.0					9																	2643634		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.827G>A	9.37:g.2643634G>A	ENSP00000371532:p.Arg276Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R276Q	ENST00000382100.3	37	c.827	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169473	0.38315	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.91407	-2.84;-2.84	5.83	4.92	0.64577	.	0.163777	0.29172	N	0.012933	D	0.86585	0.5968	L	0.48935	1.535	0.80722	D	1	P;P;B	0.46621	0.855;0.881;0.339	B;B;B	0.40101	0.213;0.319;0.099	D	0.84215	0.0458	10	0.13470	T	0.59	.	16.3148	0.82915	0.0:0.0:0.8666:0.1334	.	276;276;276	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Q	276;276;155	ENSP00000371532:R276Q;ENSP00000371531:R276Q	ENSP00000371524:R155Q	R	+	2	0	VLDLR	2633634	1.000000	0.71417	0.993000	0.49108	0.196000	0.23810	4.424000	0.59868	1.447000	0.47661	-0.182000	0.12963	CGA	VLDLR	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000147852		0.488	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	178	0.00	0	G	NM_003383		2643634	2643634	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	missense	154	13.48	24	SNP	1.000	A
VLDLR	7436	genome.wustl.edu	37	9	2646516	2646516	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:2646516G>A	ENST00000382100.3	+	11	2023	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q	VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Missense_Mutation_p.R556Q	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	556					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCTGACTTGCGAGAGCCTGCC	0.473																																						dbGAP											0													87.0	84.0	85.0					9																	2646516		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1667G>A	9.37:g.2646516G>A	ENSP00000371532:p.Arg556Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R556Q	ENST00000382100.3	37	c.1667	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886625	0.33348	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.95137	-3.62;-3.62	5.46	4.56	0.56223	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.41605	D	0.000851	D	0.82765	0.5108	N	0.02916	-0.46	0.36731	D	0.881739	B;B;B	0.24483	0.066;0.082;0.104	B;B;B	0.18561	0.01;0.017;0.022	T	0.79291	-0.1864	10	0.25106	T	0.35	.	7.2457	0.26121	0.1478:0.1405:0.7117:0.0	.	556;556;556	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	Q	556;556;435	ENSP00000371532:R556Q;ENSP00000371531:R556Q	ENSP00000371524:R435Q	R	+	2	0	VLDLR	2636516	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	5.438000	0.66550	1.442000	0.47568	0.555000	0.69702	CGA	VLDLR	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000147852		0.473	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	181	0.55	1	G	NM_003383		2646516	2646516	+1	no_errors	ENST00000382100	ensembl	human	known	69_37n	missense	119	21.19	32	SNP	1.000	A
VN1R1	57191	genome.wustl.edu	37	19	57967635	57967635	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57967635A>G	ENST00000321039.3	-	1	219	c.220T>C	c.(220-222)Ttg>Ctg	p.L74L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	74					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CCAGTGAACAAAATTAAGTTA	0.418																																						dbGAP											0													42.0	41.0	41.0					19																	57967635		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.220T>C	19.37:g.57967635A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	p.L74	ENST00000321039.3	37	c.220	CCDS12951.1	19																																																																																			VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000178201		0.418	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	113	0.00	0	A	NM_020633		57967635	57967635	-1	no_errors	ENST00000321039	ensembl	human	known	69_37n	silent	104	11.86	14	SNP	0.000	G
VNN2	8875	genome.wustl.edu	37	6	133065481	133065481	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:133065481T>C	ENST00000326499.6	-	7	1645	c.1521A>G	c.(1519-1521)atA>atG	p.I507M	VNN2_ENST00000525289.1_Missense_Mutation_p.I286M|VNN2_ENST00000525270.1_Missense_Mutation_p.I454M	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	507					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCATTAATAATATGAATATTA	0.388																																						dbGAP											0													109.0	113.0	111.0					6																	133065481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1521A>G	6.37:g.133065481T>C	ENSP00000322276:p.Ile507Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.I507M	ENST00000326499.6	37	c.1521	CCDS5161.1	6	.	.	.	.	.	.	.	.	.	.	T	7.329	0.618568	0.14129	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.88509	-2.39;-2.39;-2.39	3.67	-2.08	0.07254	.	0.799729	0.10968	N	0.614222	T	0.53867	0.1823	N	0.12746	0.255	0.09310	N	1	P;B	0.36249	0.545;0.41	B;B	0.34931	0.192;0.135	T	0.55704	-0.8099	10	0.21540	T	0.41	-0.1157	4.2731	0.10796	0.3841:0.0941:0.0:0.5218	.	286;507	O95498-2;O95498	.;VNN2_HUMAN	M	507;454;286	ENSP00000322276:I507M;ENSP00000436822:I454M;ENSP00000436935:I286M	ENSP00000322276:I507M	I	-	3	3	VNN2	133107174	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.384000	0.20668	-0.481000	0.06792	0.533000	0.62120	ATA	VNN2	-	pirsf_Biotinidase_euk	ENSG00000112303		0.388	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	265	0.00	0	T			133065481	133065481	-1	no_errors	ENST00000326499	ensembl	human	known	69_37n	missense	228	16.79	46	SNP	0.000	C
VPS13A	23230	genome.wustl.edu	37	9	79952331	79952331	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:79952331G>T	ENST00000360280.3	+	47	6516	c.6256G>T	c.(6256-6258)Gat>Tat	p.D2086Y	VPS13A_ENST00000357409.5_Missense_Mutation_p.D2086Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D2086Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2047Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2086					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCCAGAAAAAGATAATTTAAC	0.328																																						dbGAP											0													62.0	65.0	64.0					9																	79952331		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6256G>T	9.37:g.79952331G>T	ENSP00000353422:p.Asp2086Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.D2086Y	ENST00000360280.3	37	c.6256	CCDS6655.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.518139|4.518139	0.85495|0.85495	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409|ENST00000419472	T;T;T;T|T	0.54479|0.33438	0.75;0.57;0.66;0.75|1.41	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56093|0.56093	0.1962|0.1962	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.993;0.999;1.0;1.0|.	T|T	0.52268|0.52268	-0.8598|-0.8598	10|7	0.87932|0.27082	D|T	0|0.32	.|.	19.4991|19.4991	0.95086|0.95086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	338;2047;2086;2086;2086|.	B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4|.	.;.;VP13A_HUMAN;.;.|.	Y|N	2086;2047;2086;2086|338	ENSP00000365821:D2086Y;ENSP00000365823:D2047Y;ENSP00000353422:D2086Y;ENSP00000349985:D2086Y|ENSP00000414410:K338N	ENSP00000349985:D2086Y|ENSP00000414410:K338N	D|K	+|+	1|3	0|2	VPS13A|VPS13A	79142151|79142151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.065000|9.065000	0.93941|0.93941	2.620000|2.620000	0.88729|0.88729	0.650000|0.650000	0.86243|0.86243	GAT|AAG	VPS13A	-	NULL	ENSG00000197969		0.328	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	159	0.00	0	G	NM_015186		79952331	79952331	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	missense	94	22.31	27	SNP	1.000	T
VPS13B	157680	genome.wustl.edu	37	8	100520138	100520138	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:100520138C>T	ENST00000358544.2	+	28	4409	c.4298C>T	c.(4297-4299)tCt>tTt	p.S1433F	VPS13B_ENST00000357162.2_Intron|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1433					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTTTCCTTCTGTAAGAAAT	0.413																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													140.0	129.0	133.0					8																	100520138		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4299+1C>T	8.37:g.100520138C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S1433F	ENST00000358544.2	37	c.4298	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218282	0.58560	.	.	ENSG00000132549	ENST00000358544	T	0.51574	0.7	5.34	5.34	0.76211	.	0.599496	0.17603	N	0.168358	T	0.49525	0.1562	N	0.19112	0.55	0.80722	D	1	B;D	0.61080	0.0;0.989	B;P	0.53450	0.001;0.726	T	0.53322	-0.8455	10	0.56958	D	0.05	.	19.3814	0.94540	0.0:1.0:0.0:0.0	.	1432;1433	Q7Z7G8-6;Q7Z7G8	.;VP13B_HUMAN	F	1433	ENSP00000351346:S1433F	ENSP00000351346:S1433F	S	+	2	0	VPS13B	100589314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.524000	0.81866	2.661000	0.90470	0.591000	0.81541	TCT	VPS13B	-	NULL	ENSG00000132549		0.413	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	272	0.37	1	C	NM_184042	Missense_Mutation	100520138	100520138	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	211	12.08	29	SNP	1.000	T
VPS13B	157680	genome.wustl.edu	37	8	100865937	100865937	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:100865937C>A	ENST00000358544.2	+	56	10506	c.10395C>A	c.(10393-10395)caC>caA	p.H3465Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H3440Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3465					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAATTTCCACTTTGCTGTCT	0.463																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													85.0	80.0	82.0					8																	100865937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10395C>A	8.37:g.100865937C>A	ENSP00000351346:p.His3465Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.H3465Q	ENST00000358544.2	37	c.10395	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430049	0.43122	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	5.53	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.78314	0.801;0.991	T	0.69191	-0.5210	10	0.46703	T	0.11	.	7.3891	0.26899	0.0:0.5098:0.0:0.4902	.	3440;3465	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	3440;3465	ENSP00000349685:H3440Q;ENSP00000351346:H3465Q	ENSP00000349685:H3440Q	H	+	3	2	VPS13B	100935113	1.000000	0.71417	0.995000	0.50966	0.818000	0.46254	1.229000	0.32600	0.280000	0.22209	-0.142000	0.14014	CAC	VPS13B	-	NULL	ENSG00000132549		0.463	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	113	0.00	0	C	NM_184042		100865937	100865937	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	missense	75	22.68	22	SNP	1.000	A
VPS13C	54832	genome.wustl.edu	37	15	62274773	62274773	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:62274773C>A	ENST00000261517.5	-	21	1988		c.e21-1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGACAGTTTTCTATAAGAAAA	0.323																																						dbGAP											0													87.0	83.0	85.0					15																	62274773		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1915-1G>T	15.37:g.62274773C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e21-1	ENST00000261517.5	37	c.1915-1	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158879	0.38119	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8801	0.92352	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	60062065	1.000000	0.71417	0.998000	0.56505	0.139000	0.21198	6.491000	0.73649	2.756000	0.94617	0.563000	0.77884	.	VPS13C	-	-	ENSG00000129003		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	448	0.00	0	C	NM_017684	Intron	62274773	62274773	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	splice_site	266	26.92	98	SNP	1.000	A
VPS13C	54832	genome.wustl.edu	37	15	62315720	62315720	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:62315720C>A	ENST00000261517.5	-	8	588		c.e8-1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTGGCTTATCTATTAAAAAA	0.274																																						dbGAP											0													24.0	24.0	24.0					15																	62315720		2161	4224	6385	-	-	-	SO:0001630	splice_region_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.515-1G>T	15.37:g.62315720C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e8-1	ENST00000261517.5	37	c.515-1	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958779	0.74016	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8962	0.88888	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS13C	60103012	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.027000	0.76463	2.527000	0.85204	0.585000	0.79938	.	VPS13C	-	-	ENSG00000129003		0.274	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	217	0.46	1	C	NM_017684	Intron	62315720	62315720	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	splice_site	121	11.03	15	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12337206	12337206	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:12337206G>T	ENST00000358136.3	+	19	3691	c.3561G>T	c.(3559-3561)gaG>gaT	p.E1187D	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1187D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAATAGAGAGAAATATGGCA	0.423																																						dbGAP											0													114.0	104.0	107.0					1																	12337206		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3561G>T	1.37:g.12337206G>T	ENSP00000350854:p.Glu1187Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E1187D	ENST00000358136.3	37	c.3561	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.489888|2.489888	0.44249|0.44249	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.46819|.	0.86;0.86|.	5.91|5.91	3.67|3.67	0.42095|0.42095	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	P;P|.	0.60473|.	0.875;0.754|.	T|T	0.56517|0.56517	-0.7966|-0.7966	10|5	0.12430|.	T|.	0.62|.	.|.	10.6575|10.6575	0.45684|0.45684	0.1059:0.139:0.7551:0.0|0.1059:0.139:0.7551:0.0	.|.	1187;1187|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	D|I	1187|10	ENSP00000348666:E1187D;ENSP00000350854:E1187D|.	ENSP00000348666:E1187D|.	E|R	+|+	3|2	2|0	VPS13D|VPS13D	12259793|12259793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.679000|2.679000	0.46909|0.46909	1.460000|1.460000	0.47911|0.47911	0.655000|0.655000	0.94253|0.94253	GAG|AGA	VPS13D	-	NULL	ENSG00000048707		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	77	0.00	0	G	NM_015378		12337206	12337206	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	1.000	T
VPS13D	55187	genome.wustl.edu	37	1	12337943	12337943	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:12337943C>A	ENST00000358136.3	+	19	4428	c.4298C>A	c.(4297-4299)tCt>tAt	p.S1433Y	VPS13D_ENST00000356315.4_Missense_Mutation_p.S1433Y	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACTGTATTCTTTGAATTGC	0.498																																						dbGAP											0													123.0	122.0	122.0					1																	12337943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4298C>A	1.37:g.12337943C>A	ENSP00000350854:p.Ser1433Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S1433Y	ENST00000358136.3	37	c.4298	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.018340|5.018340	0.93404|0.93404	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.61158	.|0.13;0.15	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70228|0.70228	0.3200|0.3200	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.87578	.|0.998;0.915	T|T	0.70502|0.70502	-0.4854|-0.4854	5|10	.|0.87932	.|D	.|0	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1433;1433	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	I|Y	256|1433	.|ENSP00000348666:S1433Y;ENSP00000350854:S1433Y	.|ENSP00000348666:S1433Y	L|S	+|+	1|2	0|0	VPS13D|VPS13D	12260530|12260530	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	7.484000|7.484000	0.81180|0.81180	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTT|TCT	VPS13D	-	NULL	ENSG00000048707		0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	198	0.00	0	C	NM_015378		12337943	12337943	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	75	35.34	41	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12405529	12405529	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:12405529G>A	ENST00000358136.3	+	43	9114	c.8984G>A	c.(8983-8985)cGa>cAa	p.R2995Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2970Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACCTTTTTTCGATATGCAGCA	0.478																																						dbGAP											0													149.0	148.0	149.0					1																	12405529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8984G>A	1.37:g.12405529G>A	ENSP00000350854:p.Arg2995Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.R2995Q	ENST00000358136.3	37	c.8984	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.702527|5.702527	0.96812|0.96812	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52526	.|0.66;0.66	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.068567	.|0.64402	.|D	.|0.000011	T|T	0.68522|0.68522	0.3010|0.3010	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.67987|0.67987	-0.5528|-0.5528	5|10	.|0.45353	.|T	.|0.12	.|.	17.5386|17.5386	0.87841|0.87841	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2970;2994	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	N|Q	1817|2970;2995	.|ENSP00000348666:R2970Q;ENSP00000350854:R2995Q	.|ENSP00000348666:R2970Q	D|R	+|+	1|2	0|0	VPS13D|VPS13D	12328116|12328116	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.337000|9.337000	0.96545|0.96545	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	GAT|CGA	VPS13D	-	NULL	ENSG00000048707		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	130	0.00	0	G	NM_015378		12405529	12405529	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	106	15.20	19	SNP	1.000	A
VPS26B	112936	genome.wustl.edu	37	11	134104820	134104820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:134104820G>T	ENST00000281187.5	+	2	731	c.253G>T	c.(253-255)Gag>Tag	p.E85*	VPS26B_ENST00000525095.2_Nonsense_Mutation_p.E85*	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	85					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GAACCACCATGAGTTTGTGTC	0.592																																					Colon(171;1263 1952 15904 45703 47982)	dbGAP											0													94.0	89.0	91.0					11																	134104820		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.253G>T	11.37:g.134104820G>T	ENSP00000281187:p.Glu85*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96A55	Nonsense_Mutation	SNP	pfam_VPS26,superfamily_Ig_E-set	p.E85*	ENST00000281187.5	37	c.253	CCDS8495.1	11	.	.	.	.	.	.	.	.	.	.	G	43	9.998008	0.99314	.	.	ENSG00000151502	ENST00000281187	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.1389	19.6081	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	X	85	.	ENSP00000281187:E85X	E	+	1	0	VPS26B	133610030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.652000	0.90054	0.591000	0.81541	GAG	VPS26B	-	pfam_VPS26,superfamily_Ig_E-set	ENSG00000151502		0.592	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1	85	0.00	0	G	NM_052875		134104820	134104820	+1	no_errors	ENST00000281187	ensembl	human	known	69_37n	nonsense	57	12.31	8	SNP	1.000	T
VPS41	27072	genome.wustl.edu	37	7	38805245	38805245	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:38805245G>T	ENST00000310301.4	-	16	1318	c.1264C>A	c.(1264-1266)Ctt>Att	p.L422I	VPS41_ENST00000395969.2_Missense_Mutation_p.L397I	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	422					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.L422I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TTTTTCCCAAGAATTTTCTGG	0.318																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											61.0	65.0	63.0					7																	38805245		2203	4298	6501	-	-	-	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1264C>A	7.37:g.38805245G>T	ENSP00000309457:p.Leu422Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.L422I	ENST00000310301.4	37	c.1264	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768623	0.90020	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.23950	1.88;1.89	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.73753	2.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.46652	-0.9176	10	0.35671	T	0.21	-17.6046	19.3294	0.94280	0.0:0.0:1.0:0.0	.	422;397;422	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	I	422;397	ENSP00000309457:L422I;ENSP00000379297:L397I	ENSP00000309457:L422I	L	-	1	0	VPS41	38771770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.556000	0.98127	2.584000	0.87258	0.460000	0.39030	CTT	VPS41	-	pirsf_VPS41	ENSG00000006715		0.318	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3	211	0.00	0	G			38805245	38805245	-1	no_errors	ENST00000310301	ensembl	human	known	69_37n	missense	152	13.14	23	SNP	1.000	T
VPS45	11311	genome.wustl.edu	37	1	150116911	150116911	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:150116911T>C	ENST00000369130.3	+	15	2196	c.1650T>C	c.(1648-1650)tcT>tcC	p.S550S	VPS45_ENST00000369128.5_Missense_Mutation_p.W477R|VPS45_ENST00000484306.1_3'UTR	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	550					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTGGCTTCTGGACTGCACA	0.468																																						dbGAP											0													86.0	78.0	81.0					1																	150116911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1650T>C	1.37:g.150116911T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.W477R	ENST00000369130.3	37	c.1429	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.588575	0.46110	.	.	ENSG00000136631	ENST00000369128	T	0.66815	-0.23	5.65	-1.03	0.10102	.	.	.	.	.	T	0.24236	0.0587	.	.	.	0.22771	N	0.99876	B	0.02656	0.0	B	0.04013	0.001	T	0.13926	-1.0491	8	0.45353	T	0.12	.	0.3881	0.00406	0.2701:0.2287:0.1259:0.3753	.	477	F5H8K1	.	R	477	ENSP00000358124:W477R	ENSP00000358124:W477R	W	+	1	0	VPS45	148383535	0.198000	0.23374	0.998000	0.56505	0.999000	0.98932	-1.244000	0.02902	-0.032000	0.13758	0.533000	0.62120	TGG	VPS45	-	NULL	ENSG00000136631		0.468	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	220	0.00	0	T	NM_007259		150116911	150116911	+1	no_errors	ENST00000369128	ensembl	human	known	69_37n	missense	120	29.89	52	SNP	0.985	C
VPS4B	9525	genome.wustl.edu	37	18	61078757	61078757	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:61078757C>T	ENST00000238497.5	-	2	285	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	VPS4B_ENST00000591519.1_Missense_Mutation_p.E28K	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	28	MIT.				ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGGGCTTCTTCGTAGTTCCCA	0.393																																						dbGAP											0													112.0	105.0	107.0					18																	61078757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.82G>A	18.37:g.61078757C>T	ENSP00000238497:p.Glu28Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.E28K	ENST00000238497.5	37	c.82	CCDS11983.1	18	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749467	0.89753	.	.	ENSG00000119541	ENST00000238497	T	0.75050	-0.9	6.06	6.06	0.98353	MIT (2);	0.045752	0.85682	D	0.000000	T	0.74412	0.3713	L	0.52011	1.625	0.80722	D	1	B;B	0.18461	0.028;0.028	B;B	0.29716	0.106;0.049	T	0.66716	-0.5853	10	0.36615	T	0.2	-24.1045	20.2348	0.98355	0.0:1.0:0.0:0.0	.	28;28	A8K4G7;O75351	.;VPS4B_HUMAN	K	28	ENSP00000238497:E28K	ENSP00000238497:E28K	E	-	1	0	VPS4B	59229737	1.000000	0.71417	0.979000	0.43373	0.922000	0.55478	5.728000	0.68531	2.880000	0.98712	0.650000	0.86243	GAA	VPS4B	-	pfam_MIT,smart_MIT	ENSG00000119541		0.393	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	358	0.00	0	C	NM_004869		61078757	61078757	-1	no_errors	ENST00000238497	ensembl	human	known	69_37n	missense	152	22.05	43	SNP	1.000	T
VPS54	51542	genome.wustl.edu	37	2	64176266	64176266	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:64176266T>G	ENST00000272322.4	-	8	1196	c.1042A>C	c.(1042-1044)Aaa>Caa	p.K348Q	VPS54_ENST00000354504.3_Missense_Mutation_p.K231Q|VPS54_ENST00000409558.4_Missense_Mutation_p.K336Q			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	348					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCTATCAGTTTTTCTAATTCA	0.323																																						dbGAP											0													58.0	56.0	56.0					2																	64176266		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1042A>C	2.37:g.64176266T>G	ENSP00000272322:p.Lys348Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.K348Q	ENST00000272322.4	37	c.1042	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482639	0.84747	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.35421	1.38;1.31;1.31	4.86	4.86	0.63082	Vacuolar protein sorting-associated protein 54 (1);	0.047372	0.85682	D	0.000000	T	0.49915	0.1585	L	0.48642	1.525	0.58432	D	0.999993	P;D;D	0.71674	0.486;0.998;0.997	B;D;P	0.65773	0.268;0.938;0.897	T	0.40757	-0.9546	10	0.30854	T	0.27	.	14.7564	0.69567	0.0:0.0:0.0:1.0	.	231;348;336	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	Q	231;348;336;336;348	ENSP00000346499:K231Q;ENSP00000272322:K348Q;ENSP00000386980:K336Q	ENSP00000272322:K348Q	K	-	1	0	VPS54	64029770	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.449000	0.73473	1.939000	0.56221	0.533000	0.62120	AAA	VPS54	-	pfam_Vacuolar_sorting-assoc_54	ENSG00000143952		0.323	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	227	0.00	0	T	NM_016516		64176266	64176266	-1	no_errors	ENST00000272322	ensembl	human	known	69_37n	missense	169	22.83	50	SNP	1.000	G
VRTN	55237	genome.wustl.edu	37	14	74825566	74825566	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:74825566T>C	ENST00000256362.4	+	2	2321	c.2080T>C	c.(2080-2082)Tat>Cat	p.Y694H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	694					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCGAGCCCTCTATGACGGCCT	0.587																																						dbGAP											0													49.0	47.0	48.0					14																	74825566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.2080T>C	14.37:g.74825566T>C	ENSP00000256362:p.Tyr694His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.Y694H	ENST00000256362.4	37	c.2080	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	T	9.963	1.223370	0.22457	.	.	ENSG00000133980	ENST00000256362	T	0.49432	0.78	4.31	3.14	0.36123	.	0.164918	0.39020	U	0.001498	T	0.20577	0.0495	N	0.12746	0.255	0.38011	D	0.934531	B	0.12630	0.006	B	0.08055	0.003	T	0.11891	-1.0569	10	0.08837	T	0.75	-10.3306	3.3152	0.07030	0.0:0.2606:0.0:0.7394	.	694	Q9H8Y1	VRTN_HUMAN	H	694	ENSP00000256362:Y694H	ENSP00000256362:Y694H	Y	+	1	0	VRTN	73895319	1.000000	0.71417	0.296000	0.24974	0.716000	0.41182	2.667000	0.46808	1.806000	0.52798	0.482000	0.46254	TAT	VRTN	-	NULL	ENSG00000133980		0.587	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	103	0.00	0	T	NM_018228		74825566	74825566	+1	no_errors	ENST00000256362	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	C
VSIG1	340547	genome.wustl.edu	37	X	107301373	107301373	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107301373G>A	ENST00000217957.5	+	2	272	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	VSIG1_ENST00000415430.3_Missense_Mutation_p.R52Q	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	52	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTGGCCTCCCGAGAACAGCTT	0.468																																						dbGAP											0													177.0	130.0	146.0					X																	107301373		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.155G>A	X.37:g.107301373G>A	ENSP00000217957:p.Arg52Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R52Q	ENST00000217957.5	37	c.155	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	4.745	0.138488	0.09083	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.63913	-0.07;-0.07;-0.07	5.0	-7.1	0.01547	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.112520	0.02453	N	0.085813	T	0.37128	0.0992	N	0.25647	0.755	0.09310	N	1	B;B	0.31599	0.33;0.185	B;B	0.21546	0.035;0.025	T	0.28170	-1.0052	10	0.11794	T	0.64	.	3.8448	0.08930	0.1676:0.0922:0.1382:0.602	.	52;52	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	52	ENSP00000402219:R52Q;ENSP00000217957:R52Q;ENSP00000407102:R52Q	ENSP00000217957:R52Q	R	+	2	0	VSIG1	107188029	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.803000	0.04540	-1.903000	0.01093	-0.318000	0.08688	CGA	VSIG1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000101842		0.468	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	648	0.15	1	G	NM_182607		107301373	107301373	+1	no_errors	ENST00000415430	ensembl	human	known	69_37n	missense	467	16.07	90	SNP	0.000	A
VSIG1	340547	genome.wustl.edu	37	X	107315908	107315908	+	Splice_Site	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107315908G>T	ENST00000217957.5	+	4	531	c.414G>T	c.(412-414)gtG>gtT	p.V138V	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000415430.3_Splice_Site_p.V174V	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	138						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCCTTACAGTGAAACCTTCTA	0.418																																						dbGAP											0													175.0	141.0	153.0					X																	107315908		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.413-1G>T	X.37:g.107315908G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J4P2|Q6MZS4	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V174	ENST00000217957.5	37	c.522	CCDS14535.1	X																																																																																			VSIG1	-	NULL	ENSG00000101842		0.418	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	494	0.00	0	G	NM_182607	Silent	107315908	107315908	+1	no_errors	ENST00000415430	ensembl	human	known	69_37n	silent	413	24.22	132	SNP	0.994	T
VSIG1	340547	genome.wustl.edu	37	X	107319421	107319421	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:107319421G>T	ENST00000217957.5	+	6	920	c.803G>T	c.(802-804)aGa>aTa	p.R268I	VSIG1_ENST00000415430.3_Missense_Mutation_p.R304I	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	268						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCAAAAGAAAGAAATTCTAAG	0.418																																						dbGAP											0													186.0	161.0	169.0					X																	107319421		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.803G>T	X.37:g.107319421G>T	ENSP00000217957:p.Arg268Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R304I	ENST00000217957.5	37	c.911	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584862	0.28268	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.76186	-1.0;-0.79	4.91	3.53	0.40419	.	1.338430	0.04885	N	0.448351	T	0.74374	0.3708	L	0.57536	1.79	0.09310	N	0.999998	D;D	0.56035	0.974;0.974	P;P	0.45913	0.497;0.497	T	0.57447	-0.7810	10	0.51188	T	0.08	.	6.3528	0.21385	0.1989:0.0:0.8011:0.0	.	304;268	C9J4P2;Q86XK7	.;VSIG1_HUMAN	I	304;268	ENSP00000402219:R304I;ENSP00000217957:R268I	ENSP00000217957:R268I	R	+	2	0	VSIG1	107206077	0.908000	0.30866	0.039000	0.18376	0.044000	0.14063	1.902000	0.39848	0.601000	0.29879	0.600000	0.82982	AGA	VSIG1	-	NULL	ENSG00000101842		0.418	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	716	0.00	0	G	NM_182607		107319421	107319421	+1	no_errors	ENST00000415430	ensembl	human	known	69_37n	missense	490	26.32	175	SNP	0.106	T
VTA1	51534	genome.wustl.edu	37	6	142519781	142519781	+	Intron	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:142519781T>A	ENST00000367630.4	+	6	755				VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATGATTTATTTAATTCCCCTT	0.403																																						dbGAP											0													24.0	24.0	24.0					6																	142519781		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.697+29T>A	6.37:g.142519781T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	RNA	SNP	-	NULL	ENST00000367630.4	37	NULL	CCDS5197.1	6																																																																																			VTA1	-	-	ENSG00000009844		0.403	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	115	0.00	0	T	NM_016485		142519781	142519781	+1	no_errors	ENST00000491881	ensembl	human	known	69_37n	rna	62	13.89	10	SNP	0.000	A
VWA3A	146177	genome.wustl.edu	37	16	22162149	22162149	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:22162149C>A	ENST00000389398.5	+	30	3359	c.3263C>A	c.(3262-3264)tCc>tAc	p.S1088Y	VWA3A_ENST00000563755.1_Missense_Mutation_p.S190Y|VWA3A_ENST00000389397.4_Missense_Mutation_p.S190Y	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1088	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACACCATTTCCTTGAACTGC	0.483																																						dbGAP											0													78.0	78.0	78.0					16																	22162149		1987	4155	6142	-	-	-	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3263C>A	16.37:g.22162149C>A	ENSP00000374049:p.Ser1088Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S1088Y	ENST00000389398.5	37	c.3263	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349097	0.61183	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.23348	1.91;1.91	5.44	4.49	0.54785	von Willebrand factor, type A (3);	0.140270	0.49916	D	0.000127	T	0.48677	0.1513	M	0.74546	2.27	0.41428	D	0.987841	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.971	T	0.52631	-0.8550	10	0.66056	D	0.02	.	11.9358	0.52872	0.0:0.915:0.0:0.085	.	1088;190	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	Y	1088;190;711	ENSP00000374049:S1088Y;ENSP00000374048:S190Y	ENSP00000299840:S711Y	S	+	2	0	VWA3A	22069650	1.000000	0.71417	0.508000	0.27688	0.939000	0.58152	3.208000	0.51114	1.297000	0.44761	0.650000	0.86243	TCC	VWA3A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000175267		0.483	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	156	0.00	0	C			22162149	22162149	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	missense	145	15.70	27	SNP	0.998	A
VWA3B	200403	genome.wustl.edu	37	2	98744744	98744744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:98744744G>T	ENST00000477737.1	+	6	949	c.745G>T	c.(745-747)Gaa>Taa	p.E249*	VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E249*|VWA3B_ENST00000451075.2_Nonsense_Mutation_p.E99*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	249										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTCCTGAAGAATCCAAGGA	0.488																																						dbGAP											0													189.0	190.0	190.0					2																	98744744		1925	4131	6056	-	-	-	SO:0001587	stop_gained	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.745G>T	2.37:g.98744744G>T	ENSP00000417955:p.Glu249*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E249*	ENST00000477737.1	37	c.745	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.511844	0.98329	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	.	.	.	5.75	0.563	0.17296	.	0.721569	0.13128	N	0.411715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	2.414	0.04431	0.2985:0.1206:0.4665:0.1143	.	.	.	.	X	249;249;99	.	ENSP00000411168:E249X	E	+	1	0	VWA3B	98111176	0.006000	0.16342	0.128000	0.21923	0.995000	0.86356	0.075000	0.14686	0.036000	0.15547	0.655000	0.94253	GAA	VWA3B	-	NULL	ENSG00000168658		0.488	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	900	0.00	0	G	NM_144992		98744744	98744744	+1	no_errors	ENST00000477737	ensembl	human	known	69_37n	nonsense	668	13.68	106	SNP	0.050	T
VWA3B	200403	genome.wustl.edu	37	2	98928331	98928331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:98928331G>T	ENST00000477737.1	+	27	3775	c.3571G>T	c.(3571-3573)Gaa>Taa	p.E1191*	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1191										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCACTGAAAGAAGCGGACAC	0.597																																						dbGAP											0													26.0	31.0	29.0					2																	98928331		1923	4128	6051	-	-	-	SO:0001587	stop_gained	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3571G>T	2.37:g.98928331G>T	ENSP00000417955:p.Glu1191*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E1191*	ENST00000477737.1	37	c.3571	CCDS42718.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.866065|6.866065	0.97897|0.97897	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	.|.	.|.	.|.	3.89|3.89	1.95|1.95	0.26073|0.26073	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36248	.|0.0960	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.23404	.|-1.0189	.|4	0.32370|.	T|.	0.25|.	.|.	9.8675|9.8675	0.41152|0.41152	0.0:0.4096:0.5904:0.0|0.0:0.4096:0.5904:0.0	.|.	.|.	.|.	.|.	X|I	1191;313|601	.|.	ENSP00000351009:E313X|.	E|R	+|+	1|2	0|0	VWA3B|VWA3B	98294763|98294763	0.058000|0.058000	0.20735|0.20735	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	1.500000|1.500000	0.35682|0.35682	0.557000|0.557000	0.29117|0.29117	0.491000|0.491000	0.48974|0.48974	GAA|AGA	VWA3B	-	NULL	ENSG00000168658		0.597	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	91	0.00	0	G	NM_144992		98928331	98928331	+1	no_errors	ENST00000477737	ensembl	human	known	69_37n	nonsense	36	28.00	14	SNP	0.001	T
VWA5B1	127731	genome.wustl.edu	37	1	20645955	20645955	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:20645955G>T	ENST00000375079.2	+	7	1118	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	VWA5B1_ENST00000289815.8_Missense_Mutation_p.D308Y|VWA5B1_ENST00000289825.4_Missense_Mutation_p.D25Y|RP4-745E8.2_ENST00000444923.1_RNA|VWA5B1_ENST00000375083.4_Missense_Mutation_p.D308Y	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	308						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						GGGAAGAACAGATTTCATTAA	0.552																																						dbGAP											0													94.0	92.0	93.0					1																	20645955		692	1591	2283	-	-	-	SO:0001583	missense	0			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.922G>T	1.37:g.20645955G>T	ENSP00000364220:p.Asp308Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D308Y	ENST00000375079.2	37	c.922		1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458529	0.84317	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.13089	3.13;2.74;2.62;3.09	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.956;1.0;0.984	T	0.32587	-0.9901	10	0.87932	D	0	.	17.5438	0.87855	0.0:0.0:1.0:0.0	.	308;308;25	Q5TIE3;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.	Y	308;308;308;25;308	ENSP00000289815:D308Y;ENSP00000364224:D308Y;ENSP00000289825:D25Y;ENSP00000364220:D308Y	ENSP00000289815:D308Y	D	+	1	0	VWA5B1	20518542	1.000000	0.71417	0.967000	0.41034	0.974000	0.67602	9.206000	0.95056	2.498000	0.84270	0.491000	0.48974	GAT	VWA5B1	-	NULL	ENSG00000158816		0.552	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	184	0.00	0	G	XM_001722222		20645955	20645955	+1	no_errors	ENST00000375089	ensembl	human	known	69_37n	missense	79	16.84	16	SNP	1.000	T
VWA8	23078	genome.wustl.edu	37	13	42361646	42361646	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:42361646T>G	ENST00000379310.3	-	18	2165	c.2097A>C	c.(2095-2097)gaA>gaC	p.E699D	VWA8_ENST00000281496.6_Missense_Mutation_p.E699D	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	699						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCAGATTTTTTTCTAATGCTG	0.373																																						dbGAP											0													65.0	69.0	68.0					13																	42361646		2203	4298	6501	-	-	-	SO:0001583	missense	0			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.2097A>C	13.37:g.42361646T>G	ENSP00000368612:p.Glu699Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.E699D	ENST00000379310.3	37	c.2097	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	12.63	1.994364	0.35226	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.13089	2.84;2.62	5.13	1.3	0.21679	.	0.249421	0.38111	N	0.001810	T	0.09774	0.0240	L	0.47016	1.485	0.41298	D	0.987025	B	0.14805	0.011	B	0.21151	0.033	T	0.20042	-1.0287	10	0.39692	T	0.17	.	1.4483	0.02369	0.1364:0.2439:0.1395:0.4802	.	699	A3KMH1	K0564_HUMAN	D	603;699;699	ENSP00000368612:E699D;ENSP00000281496:E699D	ENSP00000251030:E603D	E	-	3	2	KIAA0564	41259646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.575000	0.23729	0.343000	0.23821	0.533000	0.62120	GAA	VWA8	-	NULL	ENSG00000102763		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	161	0.00	0	T	NM_015058		42361646	42361646	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	99	16.81	20	SNP	0.997	G
VWA8	23078	genome.wustl.edu	37	13	42486257	42486257	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:42486257T>G	ENST00000379310.3	-	3	357	c.289A>C	c.(289-291)Atg>Ctg	p.M97L	VWA8_ENST00000281496.6_Missense_Mutation_p.M97L	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	97						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCCTTCTGCATTATCCATCTT	0.368																																						dbGAP											0													118.0	122.0	121.0					13																	42486257		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.289A>C	13.37:g.42486257T>G	ENSP00000368612:p.Met97Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.M97L	ENST00000379310.3	37	c.289	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	11.35	1.612101	0.28712	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.28454	1.61;1.61	5.97	5.97	0.96955	.	0.052430	0.64402	D	0.000001	T	0.18593	0.0446	N	0.13235	0.315	0.49915	D	0.999835	B	0.15719	0.014	B	0.18871	0.023	T	0.07693	-1.0759	10	0.06099	T	0.92	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	97	A3KMH1	K0564_HUMAN	L	1;97;97;97	ENSP00000368612:M97L;ENSP00000281496:M97L	ENSP00000251030:M1L	M	-	1	0	KIAA0564	41384257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.957000	0.63652	2.285000	0.76669	0.477000	0.44152	ATG	VWA8	-	NULL	ENSG00000102763		0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	243	0.00	0	T	NM_015058		42486257	42486257	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	156	12.85	23	SNP	1.000	G
VWDE	221806	genome.wustl.edu	37	7	12399227	12399227	+	Missense_Mutation	SNP	C	C	A	rs557910479		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:12399227C>A	ENST00000275358.3	-	16	3439	c.3251G>T	c.(3250-3252)aGa>aTa	p.R1084I		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	1084						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CCAAGTAAATCTTGAAATTTT	0.318																																						dbGAP											0													81.0	72.0	75.0					7																	12399227		692	1589	2281	-	-	-	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.3251G>T	7.37:g.12399227C>A	ENSP00000275358:p.Arg1084Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.R1084I	ENST00000275358.3	37	c.3251	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693527	0.30052	.	.	ENSG00000146530	ENST00000275358;ENST00000536307	D	0.82619	-1.63	3.79	1.34	0.21922	.	0.811638	0.11218	N	0.587003	T	0.69314	0.3097	L	0.29908	0.895	0.34575	D	0.713907	B	0.12630	0.006	B	0.14023	0.01	T	0.60875	-0.7176	10	0.26408	T	0.33	.	4.2577	0.10726	0.0:0.2633:0.1727:0.5639	.	1084	Q8N2E2	VWDE_HUMAN	I	1084;538	ENSP00000275358:R1084I	ENSP00000275358:R1084I	R	-	2	0	VWDE	12365752	0.998000	0.40836	0.941000	0.38009	0.835000	0.47333	1.014000	0.29950	0.168000	0.19655	-1.073000	0.02249	AGA	VWDE	-	NULL	ENSG00000146530		0.318	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	128	0.00	0	C	XM_371878		12399227	12399227	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	A
VWDE	221806	genome.wustl.edu	37	7	12414734	12414734	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:12414734C>A	ENST00000275358.3	-	8	1332	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	382						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						CGAGAAAAATCTGTGACAGCA	0.433																																						dbGAP											0													129.0	111.0	116.0					7																	12414734		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.1144G>T	7.37:g.12414734C>A	ENSP00000275358:p.Asp382Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D382Y	ENST00000275358.3	37	c.1144	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942001	0.53079	.	.	ENSG00000146530	ENST00000275358	D	0.89415	-2.51	4.68	3.79	0.43588	.	.	.	.	.	D	0.93736	0.7998	M	0.74258	2.255	0.37973	D	0.933332	D	0.89917	1.0	D	0.91635	0.999	D	0.95398	0.8487	9	0.87932	D	0	.	14.8512	0.70297	0.0:0.8554:0.1446:0.0	.	382	Q8N2E2	VWDE_HUMAN	Y	382	ENSP00000275358:D382Y	ENSP00000275358:D382Y	D	-	1	0	VWDE	12381259	1.000000	0.71417	0.431000	0.26735	0.503000	0.33858	5.545000	0.67237	1.179000	0.42884	0.585000	0.79938	GAT	VWDE	-	NULL	ENSG00000146530		0.433	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	134	0.00	0	C	XM_371878		12414734	12414734	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	missense	117	14.60	20	SNP	0.993	A
VWDE	221806	genome.wustl.edu	37	7	12428939	12428939	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:12428939C>A	ENST00000275358.3	-	3	477	c.289G>T	c.(289-291)Gat>Tat	p.D97Y		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	97						extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						GTTTCTGAATCTCTCAGAGAC	0.423																																						dbGAP											0													56.0	53.0	54.0					7																	12428939		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.289G>T	7.37:g.12428939C>A	ENSP00000275358:p.Asp97Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.D97Y	ENST00000275358.3	37	c.289	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432437	0.62844	.	.	ENSG00000146530	ENST00000275358;ENST00000541006	T	0.65178	-0.14	4.44	3.56	0.40772	.	0.322809	0.33290	N	0.005077	T	0.71492	0.3346	M	0.65975	2.015	0.35524	D	0.801672	D	0.69078	0.997	P	0.57283	0.817	T	0.81176	-0.1052	10	0.87932	D	0	.	12.7255	0.57168	0.0:0.9193:0.0:0.0807	.	97	Q8N2E2	VWDE_HUMAN	Y	97	ENSP00000275358:D97Y	ENSP00000275358:D97Y	D	-	1	0	VWDE	12395464	0.998000	0.40836	0.634000	0.29324	0.911000	0.54048	4.999000	0.63934	1.217000	0.43442	0.563000	0.77884	GAT	VWDE	-	NULL	ENSG00000146530		0.423	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	72	0.00	0	C	XM_371878		12428939	12428939	-1	no_errors	ENST00000452576	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.898	A
WASF2	10163	genome.wustl.edu	37	1	27744865	27744865	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:27744865C>A	ENST00000430629.2	-	4	539	c.324G>T	c.(322-324)caG>caT	p.Q108H	WASF2_ENST00000536657.1_Missense_Mutation_p.Q108H	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	108					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CAAAAAGCTTCTGGTCTTGAA	0.453																																						dbGAP											0													124.0	131.0	129.0					1																	27744865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.324G>T	1.37:g.27744865C>A	ENSP00000396211:p.Gln108His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.Q108H	ENST00000430629.2	37	c.324	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862476	0.51482	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.50813	0.73;0.73	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.80764	0.866;0.994	T	0.77064	-0.2726	10	0.45353	T	0.12	0.0582	13.1058	0.59247	0.0:0.9223:0.0:0.0777	.	108;108	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	H	108	ENSP00000396211:Q108H;ENSP00000439883:Q108H	ENSP00000396211:Q108H	Q	-	3	2	WASF2	27617452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.709000	0.54853	2.519000	0.84933	0.655000	0.94253	CAG	WASF2	-	NULL	ENSG00000158195		0.453	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	246	0.00	0	C	NM_006990		27744865	27744865	-1	no_errors	ENST00000430629	ensembl	human	known	69_37n	missense	183	14.49	31	SNP	1.000	A
WARS2	10352	genome.wustl.edu	37	1	119575659	119575659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:119575659C>A	ENST00000235521.4	-	6	984	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Nonsense_Mutation_p.E226*	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	320					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTTTCAATTTCACGCTTAATT	0.493																																						dbGAP											0													129.0	131.0	130.0					1																	119575659		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.958G>T	1.37:g.119575659C>A	ENSP00000235521:p.Glu320*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-synth,tigrfam_Trp-tRNA-synth	p.E320*	ENST00000235521.4	37	c.958	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.200418	0.94997	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	.	.	.	5.96	5.96	0.96718	.	0.046847	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-29.7473	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	320;226	.	ENSP00000235521:E320X	E	-	1	0	WARS2	119377182	1.000000	0.71417	0.978000	0.43139	0.967000	0.64934	7.480000	0.81109	2.832000	0.97577	0.655000	0.94253	GAA	WARS2	-	tigrfam_Trp-tRNA-synth	ENSG00000116874		0.493	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	HGNC	protein_coding	OTTHUMT00000034362.1	161	0.00	0	C	NM_015836		119575659	119575659	-1	no_errors	ENST00000235521	ensembl	human	known	69_37n	nonsense	60	15.49	11	SNP	1.000	A
WASF3	10810	genome.wustl.edu	37	13	27239234	27239234	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:27239234C>A	ENST00000335327.5	+	4	381	c.203C>A	c.(202-204)tCt>tAt	p.S68Y	WASF3_ENST00000361042.4_Missense_Mutation_p.S68Y|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	68					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGAGCAAATTCTCTTCAAGAC	0.423																																						dbGAP											0													105.0	98.0	100.0					13																	27239234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.203C>A	13.37:g.27239234C>A	ENSP00000335055:p.Ser68Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S68Y	ENST00000335327.5	37	c.203	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798348	0.90538	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.69435	-0.4;-0.4	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65874	0.939;0.939	D	0.85938	0.1456	10	0.87932	D	0	-28.6075	19.6999	0.96048	0.0:1.0:0.0:0.0	.	68;68	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	Y	68	ENSP00000354325:S68Y;ENSP00000335055:S68Y	ENSP00000335055:S68Y	S	+	2	0	WASF3	26137234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.486000	0.66856	2.659000	0.90383	0.650000	0.86243	TCT	WASF3	-	NULL	ENSG00000132970		0.423	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	334	0.00	0	C			27239234	27239234	+1	no_errors	ENST00000335327	ensembl	human	known	69_37n	missense	217	15.89	41	SNP	1.000	A
WASL	8976	genome.wustl.edu	37	7	123336674	123336674	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:123336674C>A	ENST00000223023.4	-	6	920	c.588G>T	c.(586-588)aaG>aaT	p.K196N		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	196					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTTAATCTCTTCTTTTTAG	0.328																																						dbGAP											0													170.0	156.0	161.0					7																	123336674		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.588G>T	7.37:g.123336674C>A	ENSP00000223023:p.Lys196Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.K196N	ENST00000223023.4	37	c.588	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875175	0.72180	.	.	ENSG00000106299	ENST00000223023	D	0.99745	-6.61	5.97	1.64	0.23874	.	0.046281	0.85682	D	0.000000	D	0.98764	0.9584	M	0.61703	1.905	0.53005	D	0.999962	P	0.36065	0.535	B	0.37346	0.247	D	0.97418	1.0007	10	0.54805	T	0.06	-15.9885	9.6338	0.39795	0.0:0.57:0.0:0.43	.	196	O00401	WASL_HUMAN	N	196	ENSP00000223023:K196N	ENSP00000223023:K196N	K	-	3	2	WASL	123123910	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.041000	0.30291	0.356000	0.24157	0.650000	0.86243	AAG	WASL	-	NULL	ENSG00000106299		0.328	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	271	0.00	0	C	NM_003941		123336674	123336674	-1	no_errors	ENST00000223023	ensembl	human	known	69_37n	missense	219	11.34	28	SNP	1.000	A
WBP11	51729	genome.wustl.edu	37	12	14953717	14953717	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:14953717C>A	ENST00000261167.2	-	3	298	c.65G>T	c.(64-66)cGa>cTa	p.R22L	C12orf60_ENST00000330828.2_5'Flank	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	22	Required for nuclear import. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGCTTCCTTTCCTTTAAAAGG	0.318																																						dbGAP											0													53.0	59.0	57.0					12																	14953717		2202	4291	6493	-	-	-	SO:0001630	splice_region_variant	0			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.65-1G>T	12.37:g.14953717C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AY8	Missense_Mutation	SNP	pfam_WW_dom-bd_prot_11	p.R22L	ENST00000261167.2	37	c.65	CCDS8666.1	12	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094069	0.20471	.	.	ENSG00000084463	ENST00000261167;ENST00000537574;ENST00000535328	.	.	.	0.235	0.235	0.15431	.	0.000000	0.64402	D	0.000002	T	0.67258	0.2874	M	0.86740	2.835	0.48975	D	0.999733	P	0.38863	0.65	B	0.43301	0.415	T	0.71148	-0.4677	8	0.87932	D	0	.	.	.	.	.	22	Q9Y2W2	WBP11_HUMAN	L	22	.	ENSP00000261167:R22L	R	-	2	0	WBP11	14844984	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.218000	0.77991	0.308000	0.22923	0.313000	0.20887	CGA	WBP11	-	pfam_WW_dom-bd_prot_11	ENSG00000084463		0.318	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP11	HGNC	protein_coding	OTTHUMT00000400850.1	126	0.00	0	C	NM_016312	Missense_Mutation	14953717	14953717	-1	no_errors	ENST00000261167	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	1.000	A
WBP4	11193	genome.wustl.edu	37	13	41656950	41656950	+	Missense_Mutation	SNP	C	C	A	rs367965408		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:41656950C>A	ENST00000379487.3	+	10	1431	c.1031C>A	c.(1030-1032)tCt>tAt	p.S344Y	WBP4_ENST00000542082.1_Missense_Mutation_p.S323Y	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	344					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		ACAGTCACTTCTCTTGGAGTT	0.398																																						dbGAP											0													73.0	73.0	73.0					13																	41656950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.1031C>A	13.37:g.41656950C>A	ENSP00000368801:p.Ser344Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4M2|Q32P29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin	p.S344Y	ENST00000379487.3	37	c.1031	CCDS9375.1	13	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625142	0.28889	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	6.06	4.33	0.51752	.	0.207697	0.52532	D	0.000077	T	0.78349	0.4269	M	0.76328	2.33	0.41146	D	0.985992	D;D	0.76494	0.999;0.981	D;P	0.63488	0.915;0.651	T	0.80944	-0.1156	9	0.87932	D	0	-19.5254	18.1547	0.89687	0.0:0.7736:0.2264:0.0	.	323;344	B7Z4M2;O75554	.;WBP4_HUMAN	Y	344;323	.	ENSP00000368801:S344Y	S	+	2	0	WBP4	40554950	1.000000	0.71417	0.996000	0.52242	0.076000	0.17211	2.407000	0.44565	0.449000	0.26747	-2.489000	0.00195	TCT	WBP4	-	NULL	ENSG00000120688		0.398	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	190	0.00	0	C	NM_007187		41656950	41656950	+1	no_errors	ENST00000379487	ensembl	human	known	69_37n	missense	95	26.36	34	SNP	0.999	A
WDFY1	57590	genome.wustl.edu	37	2	224746737	224746737	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:224746737C>T	ENST00000233055.4	-	10	1088	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	329						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GTAACTTGAGCGCTTGCTGCT	0.502																																						dbGAP											0													198.0	203.0	202.0					2																	224746737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.986G>A	2.37:g.224746737C>T	ENSP00000233055:p.Arg329His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R329H	ENST00000233055.4	37	c.986	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426853	0.83667	.	.	ENSG00000085449	ENST00000233055	T	0.45276	0.9	5.9	5.9	0.94986	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55088	-0.8195	10	0.15499	T	0.54	-30.1577	20.2789	0.98501	0.0:1.0:0.0:0.0	.	329	Q8IWB7	WDFY1_HUMAN	H	329	ENSP00000233055:R329H	ENSP00000233055:R329H	R	-	2	0	WDFY1	224454981	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.484000	0.81180	2.788000	0.95919	0.650000	0.86243	CGC	WDFY1	-	pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000085449		0.502	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	198	0.00	0	C	NM_020830		224746737	224746737	-1	no_errors	ENST00000233055	ensembl	human	known	69_37n	missense	153	15.38	28	SNP	1.000	T
WDFY4	57705	genome.wustl.edu	37	10	49931488	49931488	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:49931488G>A	ENST00000325239.5	+	4	494	c.467G>A	c.(466-468)gGc>gAc	p.G156D	WDFY4_ENST00000413659.2_Missense_Mutation_p.G156D|WDFY4_ENST00000360890.2_Missense_Mutation_p.G156D	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	156						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GAGACGCTGGGCAGGGTTGCT	0.562																																						dbGAP											0													90.0	80.0	83.0					10																	49931488		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.467G>A	10.37:g.49931488G>A	ENSP00000320563:p.Gly156Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G156D	ENST00000325239.5	37	c.467	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	G	1.225	-0.625682	0.03610	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.52295	0.89;0.67;1.71	4.7	2.83	0.33086	.	.	.	.	.	T	0.34542	0.0901	L	0.40543	1.245	0.27313	N	0.957249	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.003	T	0.23368	-1.0190	9	0.15952	T	0.53	.	7.9318	0.29907	0.1888:0.0:0.8112:0.0	.	156;156	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	D	156;165;156;156;156	ENSP00000354141:G156D;ENSP00000320563:G156D;ENSP00000403789:G156D	ENSP00000320563:G156D	G	+	2	0	WDFY4	49601494	0.981000	0.34729	0.988000	0.46212	0.837000	0.47467	0.975000	0.29449	1.000000	0.39049	0.455000	0.32223	GGC	WDFY4	-	superfamily_ARM-type_fold	ENSG00000128815		0.562	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		93	0.00	0	G	XM_033379		49931488	49931488	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	73	10.98	9	SNP	0.671	A
WDFY4	57705	genome.wustl.edu	37	10	49998024	49998024	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:49998024C>A	ENST00000325239.5	+	21	4087	c.4060C>A	c.(4060-4062)Caa>Aaa	p.Q1354K	WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1354						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGCTGTGGGTCAATTAGGTAT	0.537																																						dbGAP											0													215.0	177.0	189.0					10																	49998024		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.4060C>A	10.37:g.49998024C>A	ENSP00000320563:p.Gln1354Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S444*	ENST00000325239.5	37	c.1331	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.39|11.39	1.623731|1.623731	0.28889|0.28889	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239|ENST00000312002	T|.	0.55052|.	0.54|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.470195|.	0.22532|.	N|.	0.058828|.	T|.	0.59293|.	0.2183|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B|.	0.23937|.	0.094|.	B|.	0.19666|.	0.026|.	T|.	0.54118|.	-0.8341|.	9|.	.|.	.|.	.|.	.|.	16.4242|16.4242	0.83809|0.83809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1354|.	Q6ZS81|.	WDFY4_HUMAN|.	K|X	1354|444	ENSP00000320563:Q1354K|.	.|.	Q|S	+|+	1|2	0|0	WDFY4|WDFY4	49668030|49668030	1.000000|1.000000	0.71417|0.71417	0.706000|0.706000	0.30403|0.30403	0.135000|0.135000	0.20990|0.20990	3.595000|3.595000	0.54016|0.54016	2.617000|2.617000	0.88574|0.88574	0.563000|0.563000	0.77884|0.77884	CAA|TCA	WDFY4	-	NULL	ENSG00000128815		0.537	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		221	0.00	0	C	XM_033379		49998024	49998024	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000312002	ensembl	human	known	69_37n	nonsense	175	15.46	32	SNP	0.961	A
WDFY4	57705	genome.wustl.edu	37	10	50011382	50011382	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50011382T>G	ENST00000325239.5	+	24	4489	c.4462T>G	c.(4462-4464)Ttg>Gtg	p.L1488V	WDFY4_ENST00000413659.2_Intron	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1488						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TTCCCATCTTTTGGAAATCCT	0.488																																						dbGAP											0													132.0	100.0	110.0					10																	50011382		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.4462T>G	10.37:g.50011382T>G	ENSP00000320563:p.Leu1488Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1488V	ENST00000325239.5	37	c.4462	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.519|6.519	0.464056|0.464056	0.12402|0.12402	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000312002;ENST00000374161|ENST00000426033;ENST00000325239	.|T	.|0.55760	.|0.5	4.38|4.38	0.0356|0.0356	0.14188|0.14188	.|.	.|0.508313	.|0.18169	.|N	.|0.149506	T|T	0.19046|0.19046	0.0457|0.0457	N|N	0.02391|0.02391	-0.57|-0.57	0.45914|0.45914	D|D	0.998756|0.998756	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.05162|0.05162	-1.0902|-1.0902	5|9	.|.	.|.	.|.	.|.	3.7406|3.7406	0.08528|0.08528	0.0891:0.3026:0.4492:0.1592|0.0891:0.3026:0.4492:0.1592	.|.	.|16;1488	.|F2Z372;Q6ZS81	.|.;WDFY4_HUMAN	C|V	578;34|1488	.|ENSP00000320563:L1488V	.|.	F|L	+|+	2|1	0|2	WDFY4|WDFY4	49681388|49681388	0.000000|0.000000	0.05858|0.05858	0.037000|0.037000	0.18230|0.18230	0.953000|0.953000	0.61014|0.61014	-0.576000|-0.576000	0.05854|0.05854	-0.209000|-0.209000	0.10156|0.10156	-1.260000|-1.260000	0.01463|0.01463	TTT|TTG	WDFY4	-	NULL	ENSG00000128815		0.488	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		494	0.00	0	T	XM_033379		50011382	50011382	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	277	10.65	33	SNP	0.783	G
WDFY4	57705	genome.wustl.edu	37	10	50105541	50105541	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:50105541G>A	ENST00000325239.5	+	44	7386	c.7359G>A	c.(7357-7359)agG>agA	p.R2453R	WDFY4_ENST00000413659.2_3'UTR|RP11-523O18.7_ENST00000430438.1_RNA	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2453						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GCAAAGACAGGTCCACTGACC	0.557																																						dbGAP											0													121.0	94.0	102.0					10																	50105541		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.7359G>A	10.37:g.50105541G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1544I	ENST00000325239.5	37	c.4630	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.62|10.62	1.402661|1.402661	0.25291|0.25291	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000312002	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|.	.|.	.|.	.|.	T|T	0.70762|0.70762	0.3261|0.3261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69339|0.69339	-0.5171|-0.5171	4|4	.|.	.|.	.|.	.|.	14.5269|14.5269	0.67894|0.67894	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|I	540|1544	.|.	.|.	G|V	+|+	2|1	0|0	WDFY4|WDFY4	49775547|49775547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.068000|1.068000	0.30629|0.30629	2.510000|2.510000	0.84645|0.84645	0.650000|0.650000	0.86243|0.86243	GGT|GTC	WDFY4	-	NULL	ENSG00000128815		0.557	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		32	0.00	0	G	XM_033379		50105541	50105541	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000312002	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	A
WDR20	91833	genome.wustl.edu	37	14	102675017	102675017	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:102675017G>A	ENST00000342702.3	+	3	541	c.510G>A	c.(508-510)tcG>tcA	p.S170S	WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000499851.2_Intron|WDR20_ENST00000335263.5_Silent_p.S170S|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Silent_p.S201S|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Silent_p.S109S|WDR20_ENST00000556511.2_Silent_p.S109S|WDR20_ENST00000424963.2_Silent_p.S46S	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	170										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TAGCCCACTCGAGTGGGAACA	0.498																																						dbGAP											0													51.0	49.0	49.0					14																	102675017		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.510G>A	14.37:g.102675017G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S201	ENST00000342702.3	37	c.603	CCDS9969.1	14	.	.	.	.	.	.	.	.	.	.	G	3.878	-0.026632	0.07589	.	.	ENSG00000140153	ENST00000556511	T	0.17528	2.27	5.31	-3.56	0.04626	.	.	.	.	.	T	0.19327	0.0464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15263	-1.0443	5	.	.	.	.	10.8817	0.46942	0.2106:0.5203:0.2691:0.0	.	.	.	.	K	101	ENSP00000451633:E101K	.	E	+	1	0	WDR20	101744770	1.000000	0.71417	0.717000	0.30585	0.984000	0.73092	1.147000	0.31602	-0.497000	0.06641	0.655000	0.94253	GAG	WDR20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000140153		0.498	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1	65	0.00	0	G	NM_181291		102675017	102675017	+1	no_errors	ENST00000454394	ensembl	human	known	69_37n	silent	63	10.00	7	SNP	0.992	A
WDR20	91833	genome.wustl.edu	37	14	102675930	102675930	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:102675930G>A	ENST00000342702.3	+	3	1454	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	WDR20_ENST00000545563.1_Missense_Mutation_p.E302K|WDR20_ENST00000499851.2_Missense_Mutation_p.E218K|WDR20_ENST00000335263.5_Missense_Mutation_p.E475K|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000454394.2_Missense_Mutation_p.E506K|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.E414K|WDR20_ENST00000556511.2_Missense_Mutation_p.E414K|WDR20_ENST00000424963.2_Missense_Mutation_p.E351K	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	475										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAGGCACCACGAGAAAGATCA	0.468											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													111.0	103.0	105.0					14																	102675930		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1423G>A	14.37:g.102675930G>A	ENSP00000341037:p.Glu475Lys	Somatic	1368	WXS	Illumina GAIIx	Phase_IV	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E506K	ENST00000342702.3	37	c.1516	CCDS9969.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.838959|2.838959	0.51057|0.51057	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511	T;T;T;T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.142996|.	0.64402|.	D|.	0.000007|.	T|T	0.58337|0.58337	0.2115|0.2115	L|L	0.28014|0.28014	0.82|0.82	0.80722|0.80722	D|D	1|1	B;B;B;B;B;P;B|.	0.40681|.	0.015;0.002;0.003;0.005;0.013;0.727;0.009|.	B;B;B;B;B;B;B|.	0.24394|.	0.007;0.001;0.001;0.002;0.008;0.053;0.001|.	T|T	0.51068|0.51068	-0.8752|-0.8752	10|5	0.08179|.	T|.	0.78|.	.|.	19.9025|19.9025	0.96993|0.96993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	506;487;414;475;414;351;475|.	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|.	.;.;.;.;.;.;WDR20_HUMAN|.	K|Q	475;414;351;475;414;218;506;405;302|405	ENSP00000335434:E475K;ENSP00000395793:E351K;ENSP00000341037:E475K;ENSP00000450636:E414K;ENSP00000443641:E218K;ENSP00000406084:E506K;ENSP00000437927:E302K|.	ENSP00000299135:E414K|.	E|R	+|+	1|2	0|0	WDR20|WDR20	101745683|101745683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.453000|9.453000	0.97619|0.97619	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAG|CGA	WDR20	-	NULL	ENSG00000140153		0.468	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1	88	0.00	0	G	NM_181291		102675930	102675930	+1	no_errors	ENST00000454394	ensembl	human	known	69_37n	missense	48	34.25	25	SNP	1.000	A
WDR33	55339	genome.wustl.edu	37	2	128471176	128471176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:128471176G>A	ENST00000322313.4	-	18	3447	c.3289C>T	c.(3289-3291)Cga>Tga	p.R1097*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1097					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1097*(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGCGCCCTCGAAAACGTGGG	0.602																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											121.0	127.0	125.0					2																	128471176		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3289C>T	2.37:g.128471176G>A	ENSP00000325377:p.Arg1097*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1097*	ENST00000322313.4	37	c.3289	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.524565	0.99195	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.81	4.85	0.62838	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9399	17.6121	0.88056	0.0:0.0:0.8683:0.1317	.	.	.	.	X	1097	.	ENSP00000325377:R1097X	R	-	1	2	WDR33	128187646	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.210000	0.58500	2.738000	0.93877	0.655000	0.94253	CGA	WDR33	-	NULL	ENSG00000136709		0.602	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	102	0.00	0	G	NM_018383		128471176	128471176	-1	no_errors	ENST00000322313	ensembl	human	known	69_37n	nonsense	33	36.54	19	SNP	0.998	A
WDR34	89891	genome.wustl.edu	37	9	131403095	131403095	+	Missense_Mutation	SNP	C	C	T	rs574651942	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:131403095C>T	ENST00000372715.2	-	2	370	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	104						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CTGGGTATGTCATACTGGGAC	0.622													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15678	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													61.0	52.0	55.0					9																	131403095		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.310G>A	9.37:g.131403095C>T	ENSP00000361800:p.Asp104Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXV4|Q9BV46	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D104N	ENST00000372715.2	37	c.310	CCDS6906.2	9	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276490	0.40294	.	.	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T	0.69040	-0.37	5.33	2.43	0.29744	.	0.232678	0.41605	N	0.000850	T	0.50154	0.1599	L	0.32530	0.975	0.25878	N	0.983627	B;B	0.24768	0.015;0.111	B;B	0.26310	0.027;0.068	T	0.33904	-0.9850	10	0.27082	T	0.32	-14.0515	7.2985	0.26408	0.0:0.7046:0.141:0.1545	.	89;104	A2A3F8;Q96EX3	.;WDR34_HUMAN	N	104;95;89	ENSP00000361800:D104N	ENSP00000361800:D104N	D	-	1	0	WDR34	130442916	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	0.045000	0.14013	0.609000	0.30018	0.655000	0.94253	GAC	WDR34	-	NULL	ENSG00000119333		0.622	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR34	HGNC	protein_coding	OTTHUMT00000054463.1	43	0.00	0	C	NM_052844		131403095	131403095	-1	no_errors	ENST00000372715	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.126	T
WDR35	57539	genome.wustl.edu	37	2	20153613	20153613	+	Missense_Mutation	SNP	C	C	T	rs200140363		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:20153613C>T	ENST00000345530.3	-	13	1530	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	WDR35_ENST00000281405.4_Missense_Mutation_p.R461Q|WDR35_ENST00000416055.2_Missense_Mutation_p.R37Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	472					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.R472Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTTCTTTTCGAGACCGTGT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		17087	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	ovary(1)											206.0	196.0	199.0					2																	20153613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1415G>A	2.37:g.20153613C>T	ENSP00000314444:p.Arg472Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R472Q	ENST00000345530.3	37	c.1415	CCDS33152.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.6	4.020374	0.75275	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.87256	-0.09;-0.08;-0.69;-2.23	5.65	5.65	0.86999	.	0.058236	0.64402	D	0.000004	D	0.87485	0.6189	L	0.58428	1.81	0.58432	D	0.999999	B;D;P;P	0.62365	0.383;0.991;0.607;0.88	B;P;B;B	0.48677	0.063;0.586;0.107;0.34	D	0.84190	0.0444	10	0.11794	T	0.64	-10.9221	18.7155	0.91673	0.0:1.0:0.0:0.0	.	472;461;472;37	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	Q	472;461;37;7	ENSP00000314444:R472Q;ENSP00000281405:R461Q;ENSP00000399159:R37Q;ENSP00000404409:R7Q	ENSP00000281405:R461Q	R	-	2	0	WDR35	20017094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.803000	0.62546	2.672000	0.90937	0.561000	0.74099	CGA	WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	465	0.00	0	C	NM_020779		20153613	20153613	-1	no_errors	ENST00000345530	ensembl	human	known	69_37n	missense	237	24.92	79	SNP	0.999	T
WDR35	57539	genome.wustl.edu	37	2	20173362	20173362	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:20173362C>A	ENST00000345530.3	-	8	959	c.844G>T	c.(844-846)Gat>Tat	p.D282Y	WDR35_ENST00000281405.4_Missense_Mutation_p.D282Y|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	282					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTTCACATCTTTGTCCTGC	0.448																																						dbGAP											0													125.0	102.0	110.0					2																	20173362		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.844G>T	2.37:g.20173362C>A	ENSP00000314444:p.Asp282Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D282Y	ENST00000345530.3	37	c.844	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086097	0.55861	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.42131	0.98;0.98	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);	0.150400	0.64402	D	0.000018	T	0.50069	0.1594	L	0.31420	0.93	0.80722	D	1	D;B	0.54207	0.965;0.006	P;B	0.59595	0.86;0.007	T	0.49224	-0.8962	10	0.48119	T	0.1	-26.8844	17.5909	0.87995	0.0:1.0:0.0:0.0	.	282;282	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	282	ENSP00000314444:D282Y;ENSP00000281405:D282Y	ENSP00000281405:D282Y	D	-	1	0	WDR35	20036843	1.000000	0.71417	0.450000	0.26969	0.046000	0.14306	5.978000	0.70501	2.478000	0.83669	0.411000	0.27672	GAT	WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.448	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	141	0.00	0	C	NM_020779		20173362	20173362	-1	no_errors	ENST00000345530	ensembl	human	known	69_37n	missense	98	26.67	36	SNP	1.000	A
WDR44	54521	genome.wustl.edu	37	X	117570720	117570720	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:117570720C>A	ENST00000254029.3	+	14	2302	c.1907C>A	c.(1906-1908)tCt>tAt	p.S636Y	WDR44_ENST00000371822.5_Missense_Mutation_p.S611Y|WDR44_ENST00000371825.3_Missense_Mutation_p.S636Y	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	636						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGCACATTTCTCGAAGAGAA	0.323																																						dbGAP											0													119.0	104.0	109.0					X																	117570720		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1907C>A	X.37:g.117570720C>A	ENSP00000254029:p.Ser636Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S636Y	ENST00000254029.3	37	c.1907	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.583225|4.583225	0.86748|0.86748	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825;ENST00000318919	.|D;D;D	.|0.81996	.|-1.54;-1.56;-1.56	5.58|5.58	5.58|5.58	0.84498|0.84498	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91233|0.91233	0.7237|0.7237	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.997;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.988;0.999;0.999;0.989	D|D	0.91955|0.91955	0.5574|0.5574	5|10	.|0.87932	.|D	.|0	-7.7174|-7.7174	18.8529|18.8529	0.92240|0.92240	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|611;636;636;636	.|F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;.;WDR44_HUMAN	L|Y	535|611;636;636;22	.|ENSP00000360887:S611Y;ENSP00000254029:S636Y;ENSP00000360890:S636Y	.|ENSP00000254029:S636Y	F|S	+|+	3|2	2|0	WDR44|WDR44	117454748|117454748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.729000|7.729000	0.84864|0.84864	2.485000|2.485000	0.83878|0.83878	0.591000|0.591000	0.81541|0.81541	TTC|TCT	WDR44	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131725		0.323	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	401	0.00	0	C	NM_019045		117570720	117570720	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	277	29.70	117	SNP	1.000	A
WDR44	54521	genome.wustl.edu	37	X	117575415	117575415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:117575415G>T	ENST00000254029.3	+	15	2454	c.2059G>T	c.(2059-2061)Gaa>Taa	p.E687*	WDR44_ENST00000371822.5_Intron|WDR44_ENST00000371825.3_Nonsense_Mutation_p.E687*	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	687						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTGTGGAATGAAGTAGATGG	0.408																																						dbGAP											0													118.0	111.0	114.0					X																	117575415		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2059G>T	X.37:g.117575415G>T	ENSP00000254029:p.Glu687*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E687*	ENST00000254029.3	37	c.2059	CCDS14572.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.994120|9.994120	0.99313|0.99313	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000254029;ENST00000371825;ENST00000318919|ENST00000371848	.|.	.|.	.|.	5.48|5.48	4.61|4.61	0.57282|0.57282	.|.	0.088049|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.62326|.	D|.	0.03|.	-21.078|-21.078	13.2859|13.2859	0.60243|0.60243	0.0782:0.0:0.9218:0.0|0.0782:0.0:0.9218:0.0	.|.	.|.	.|.	.|.	X|L	687;687;73|586	.|.	ENSP00000254029:E687X|.	E|X	+|+	1|2	0|2	WDR44|WDR44	117459443|117459443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.762000|9.762000	0.98944|0.98944	1.078000|1.078000	0.41014|0.41014	0.464000|0.464000	0.42555|0.42555	GAA|TGA	WDR44	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131725		0.408	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	386	0.00	0	G	NM_019045		117575415	117575415	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	nonsense	310	27.00	115	SNP	1.000	T
WDR46	9277	genome.wustl.edu	37	6	33254922	33254922	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:33254922C>T	ENST00000374617.4	-	9	1317	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374607.1_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	321							poly(A) RNA binding (GO:0044822)	p.D321N(1)		NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CTCATAACATCGAGCCGCCCA	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	102.0	103.0					6																	33254922		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.961G>A	6.37:g.33254922C>T	ENSP00000363746:p.Asp321Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D321N	ENST00000374617.4	37	c.961	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	C	5.254	0.232340	0.09969	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.15017	5.17;2.46	4.94	0.344	0.16006	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.718167	0.14001	N	0.348155	T	0.01523	0.0049	N	0.10645	0.015	0.09310	N	1	B;B	0.15930	0.005;0.015	B;B	0.09377	0.001;0.004	T	0.47114	-0.9142	10	0.08837	T	0.75	-0.1608	4.7894	0.13241	0.0:0.2589:0.1751:0.566	.	267;321	B4DP15;O15213	.;WDR46_HUMAN	N	321;248	ENSP00000363746:D321N;ENSP00000405568:D248N	ENSP00000363746:D321N	D	-	1	0	WDR46	33362900	0.002000	0.14202	0.000000	0.03702	0.847000	0.48162	0.615000	0.24329	-0.158000	0.11040	0.549000	0.68633	GAT	WDR46	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000227057		0.498	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2	81	0.00	0	C	NM_005452		33254922	33254922	-1	no_errors	ENST00000374617	ensembl	human	known	69_37n	missense	72	15.12	13	SNP	0.000	T
WDR47	22911	genome.wustl.edu	37	1	109517230	109517230	+	Nonsense_Mutation	SNP	G	G	A	rs568198706		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:109517230G>A	ENST00000369962.3	-	14	2767	c.2545C>T	c.(2545-2547)Cga>Tga	p.R849*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.R857*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.R850*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.R821*|WDR47_ENST00000357672.3_Nonsense_Mutation_p.R821*			O94967	WDR47_HUMAN	WD repeat domain 47	849					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GGGGAGAATCGAACAGAGCGA	0.418																																						dbGAP											0													142.0	122.0	129.0					1																	109517230		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.2545C>T	1.37:g.109517230G>A	ENSP00000358979:p.Arg849*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R857*	ENST00000369962.3	37	c.2569	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.699651	0.98920	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	.	.	.	5.27	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6011	15.6817	0.77373	0.0:0.0:0.7399:0.2601	.	.	.	.	X	857;849;821;850;821	.	ENSP00000350301:R821X	R	-	1	2	WDR47	109318753	1.000000	0.71417	0.966000	0.40874	0.948000	0.59901	4.989000	0.63870	1.196000	0.43129	0.655000	0.94253	CGA	WDR47	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085433		0.418	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	184	0.00	0	G	NM_014969		109517230	109517230	-1	no_errors	ENST00000400794	ensembl	human	known	69_37n	nonsense	78	33.90	40	SNP	0.989	A
CFAP44	55779	genome.wustl.edu	37	3	113013534	113013534	+	Splice_Site	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:113013534C>T	ENST00000393845.2	-	34	5439	c.5373G>A	c.(5371-5373)caG>caA	p.Q1791Q	WDR52_ENST00000308346.6_Splice_Site_p.Q394Q	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAGAACATACCTGCTGATTCT	0.363																																						dbGAP											0													180.0	150.0	159.0					3																	113013534		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0																														ENST00000393845.2:c.5373+1G>A	3.37:g.113013534C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R412K	ENST00000393845.2	37	c.1235	CCDS54624.1	3	.	.	.	.	.	.	.	.	.	.	C	9.926	1.213384	0.22289	.	.	ENSG00000206530	ENST00000465636	.	.	.	4.8	3.93	0.45458	.	.	.	.	.	T	0.62539	0.2436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60687	-0.7214	4	.	.	.	-3.7189	11.5394	0.50657	0.0:0.9168:0.0:0.0832	.	.	.	.	R	928	.	.	G	-	1	0	WDR52	114496224	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	2.206000	0.42779	1.255000	0.44051	0.561000	0.74099	GGG	WDR52	-	NULL	ENSG00000206530		0.363	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		298	0.33	1	C		Silent	113013534	113013534	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000461734	ensembl	human	known	69_37n	missense	198	24.43	64	SNP	1.000	T
CFAP44	55779	genome.wustl.edu	37	3	113085110	113085110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:113085110G>A	ENST00000295868.2	-	19	2653	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	WDR52_ENST00000393845.2_Nonsense_Mutation_p.R831*	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACATAGACTCGAATTGCTCCA	0.308																																						dbGAP											0													84.0	78.0	80.0					3																	113085110		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000295868.2:c.2491C>T	3.37:g.113085110G>A	ENSP00000295868:p.Arg831*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R831*	ENST00000295868.2	37	c.2491	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.622697	0.98888	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	5.59	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5213	0.61569	0.0:0.0:0.7201:0.2799	.	.	.	.	X	831	.	.	R	-	1	2	WDR52	114567800	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	3.026000	0.49689	1.474000	0.48178	0.650000	0.86243	CGA	WDR52	-	superfamily_WD40_repeat_dom	ENSG00000206530		0.308	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	171	0.00	0	G			113085110	113085110	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	nonsense	105	12.50	15	SNP	1.000	A
WDR62	284403	genome.wustl.edu	37	19	36574083	36574083	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:36574083T>G	ENST00000270301.7	+	11	1490	c.1490T>G	c.(1489-1491)gTc>gGc	p.V497G	WDR62_ENST00000401500.2_Missense_Mutation_p.V497G			O43379	WDR62_HUMAN	WD repeat domain 62	497					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGTGCGGGTCATGCAGGTC	0.602																																						dbGAP											0													53.0	49.0	51.0					19																	36574083		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1490T>G	19.37:g.36574083T>G	ENSP00000270301:p.Val497Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V497G	ENST00000270301.7	37	c.1490	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915962	0.52546	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.61627	1.24;0.09	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64740	-0.6336	10	0.33940	T	0.23	-39.7158	8.4769	0.33018	0.0:0.0856:0.0:0.9144	.	497;497	O43379-4;O43379	.;WDR62_HUMAN	G	497	ENSP00000384792:V497G;ENSP00000270301:V497G	ENSP00000270301:V497G	V	+	2	0	WDR62	41265923	0.351000	0.24887	1.000000	0.80357	0.993000	0.82548	1.123000	0.31308	2.188000	0.69820	0.533000	0.62120	GTC	WDR62	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000075702		0.602	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	142	0.70	1	T	NM_015671		36574083	36574083	+1	no_errors	ENST00000401500	ensembl	human	known	69_37n	missense	133	13.07	20	SNP	1.000	G
WDR62	284403	genome.wustl.edu	37	19	36584994	36584994	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:36584994G>A	ENST00000270301.7	+	20	2395	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	WDR62_ENST00000401500.2_Missense_Mutation_p.E799K			O43379	WDR62_HUMAN	WD repeat domain 62	799					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAGCAAACAGAGGATGATCT	0.488																																						dbGAP											0													150.0	140.0	144.0					19																	36584994		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2395G>A	19.37:g.36584994G>A	ENSP00000270301:p.Glu799Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E799K	ENST00000270301.7	37	c.2395	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570891	0.86542	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.46451	0.87;0.87	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.937	T	0.57481	-0.7804	10	0.46703	T	0.11	-32.7289	13.517	0.61545	0.0:0.0:1.0:0.0	.	799;799	O43379-4;O43379	.;WDR62_HUMAN	K	799	ENSP00000384792:E799K;ENSP00000270301:E799K	ENSP00000270301:E799K	E	+	1	0	WDR62	41276834	0.999000	0.42202	0.988000	0.46212	0.866000	0.49608	4.520000	0.60524	2.577000	0.86979	0.467000	0.42956	GAG	WDR62	-	NULL	ENSG00000075702		0.488	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	179	0.00	0	G	NM_015671		36584994	36584994	+1	no_errors	ENST00000401500	ensembl	human	known	69_37n	missense	162	25.91	57	SNP	0.993	A
CFAP57	149465	genome.wustl.edu	37	1	43649466	43649466	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:43649466G>T	ENST00000372492.4	+	4	1003	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	WDR65_ENST00000528956.1_Missense_Mutation_p.D227Y	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		227										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAATCTGGAGATCAGCGTTG	0.502																																						dbGAP											0													151.0	141.0	144.0					1																	43649466		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000372492.4:c.679G>T	1.37:g.43649466G>T	ENSP00000361570:p.Asp227Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D227Y	ENST00000372492.4	37	c.679		1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102344	0.76983	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.42131	0.98;3.5	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.217850	0.46758	D	0.000269	T	0.67107	0.2858	M	0.75264	2.295	0.42202	D	0.991771	D;D	0.69078	0.995;0.997	P;D	0.69479	0.894;0.964	T	0.67601	-0.5629	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	227;227	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	Y	227	ENSP00000361570:D227Y;ENSP00000435310:D227Y	ENSP00000361570:D227Y	D	+	1	0	WDR65	43422053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.280000	0.58959	2.885000	0.99019	0.655000	0.94253	GAT	WDR65	-	superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom	ENSG00000243710		0.502	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	321	0.00	0	G			43649466	43649466	+1	no_errors	ENST00000528956	ensembl	human	known	69_37n	missense	194	14.91	34	SNP	1.000	T
WDR63	126820	genome.wustl.edu	37	1	85548084	85548084	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:85548084A>C	ENST00000294664.6	+	5	567	c.387A>C	c.(385-387)ttA>ttC	p.L129F	WDR63_ENST00000370596.1_Missense_Mutation_p.L129F|WDR63_ENST00000326813.8_Missense_Mutation_p.L129F	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	129										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAACTATTTAAATGTGAGCA	0.378																																						dbGAP											0													93.0	96.0	95.0					1																	85548084		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.387A>C	1.37:g.85548084A>C	ENSP00000294664:p.Leu129Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L129F	ENST00000294664.6	37	c.387	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443905	0.63067	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.27	1.61	0.23674	.	0.145674	0.44483	D	0.000457	T	0.52025	0.1709	M	0.83012	2.62	0.43942	D	0.996603	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.934	T	0.52019	-0.8631	10	0.41790	T	0.15	-14.3318	4.6656	0.12664	0.5908:0.1601:0.2491:0.0	.	129;129	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	F	129;129;129;116	ENSP00000359628:L129F;ENSP00000317463:L129F;ENSP00000294664:L129F;ENSP00000435102:L116F	ENSP00000294664:L129F	L	+	3	2	WDR63	85320672	0.133000	0.22466	1.000000	0.80357	0.924000	0.55760	-0.515000	0.06290	0.384000	0.24942	-0.460000	0.05396	TTA	WDR63	-	NULL	ENSG00000162643		0.378	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	480	0.00	0	A	NM_145172		85548084	85548084	+1	no_errors	ENST00000294664	ensembl	human	known	69_37n	missense	300	18.92	70	SNP	0.998	C
WDR7	23335	genome.wustl.edu	37	18	54591305	54591305	+	Nonsense_Mutation	SNP	G	G	T	rs142736126		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:54591305G>T	ENST00000254442.3	+	22	3890	c.3679G>T	c.(3679-3681)Gaa>Taa	p.E1227*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.E1194*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1227					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGGGCTTCTCGAACTTTGTGC	0.453																																						dbGAP											0													207.0	186.0	193.0					18																	54591305		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3679G>T	18.37:g.54591305G>T	ENSP00000254442:p.Glu1227*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1227*	ENST00000254442.3	37	c.3679	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	45	11.762221	0.99600	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.869	0.92305	0.0:0.0:1.0:0.0	.	.	.	.	X	1227;1194;552;1194	.	ENSP00000254442:E1227X	E	+	1	0	WDR7	52742303	1.000000	0.71417	0.941000	0.38009	0.929000	0.56500	9.438000	0.97539	2.553000	0.86117	0.591000	0.81541	GAA	WDR7	-	superfamily_ARM-type_fold	ENSG00000091157		0.453	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	358	0.00	0	G			54591305	54591305	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	nonsense	212	33.96	109	SNP	1.000	T
WDR7	23335	genome.wustl.edu	37	18	54694261	54694261	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:54694261C>T	ENST00000254442.3	+	28	4507	c.4296C>T	c.(4294-4296)atC>atT	p.I1432I	WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000589935.1_Silent_p.I9I|WDR7_ENST00000357574.3_Silent_p.I1399I	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1432					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGGGAAGCATCGGCATGCTGA	0.597																																						dbGAP											0													83.0	79.0	81.0					18																	54694261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4296C>T	18.37:g.54694261C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1432	ENST00000254442.3	37	c.4296	CCDS11962.1	18																																																																																			WDR7	-	pfscan_WD40_repeat_dom	ENSG00000091157		0.597	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	49	0.00	0	C			54694261	54694261	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	0.884	T
WDR76	79968	genome.wustl.edu	37	15	44149275	44149275	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:44149275G>T	ENST00000263795.6	+	10	1393	c.1323G>T	c.(1321-1323)gaG>gaT	p.E441D	WDR76_ENST00000381246.2_Missense_Mutation_p.E377D	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	441										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTTATGAGAAACTTACCA	0.423																																						dbGAP											0													94.0	85.0	88.0					15																	44149275		2198	4298	6496	-	-	-	SO:0001583	missense	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1323G>T	15.37:g.44149275G>T	ENSP00000263795:p.Glu441Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E441D	ENST00000263795.6	37	c.1323	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750083	0.69533	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.66099	-0.19;-0.19	5.12	2.25	0.28309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051091	0.85682	D	0.000000	T	0.65565	0.2703	M	0.82323	2.585	0.40479	D	0.980422	P	0.47302	0.893	P	0.46585	0.521	T	0.65067	-0.6258	10	0.44086	T	0.13	-20.494	7.9913	0.30242	0.2555:0.0:0.7445:0.0	.	441	Q9H967	WDR76_HUMAN	D	441;377	ENSP00000263795:E441D;ENSP00000370645:E377D	ENSP00000263795:E441D	E	+	3	2	WDR76	41936567	1.000000	0.71417	0.889000	0.34880	0.979000	0.70002	2.630000	0.46494	0.431000	0.26258	0.650000	0.86243	GAG	WDR76	-	superfamily_WD40_repeat_dom	ENSG00000092470		0.423	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	190	0.00	0	G	NM_024908		44149275	44149275	+1	no_errors	ENST00000263795	ensembl	human	known	69_37n	missense	181	13.81	29	SNP	0.918	T
WDR78	79819	genome.wustl.edu	37	1	67292637	67292637	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:67292637C>A	ENST00000371026.3	-	15	2260	c.2205G>T	c.(2203-2205)gaG>gaT	p.E735D	RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Missense_Mutation_p.E448D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	735					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCTTGACATTCTCCTGTTGCC	0.383																																						dbGAP											0													137.0	140.0	139.0					1																	67292637		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2205G>T	1.37:g.67292637C>A	ENSP00000360065:p.Glu735Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E735D	ENST00000371026.3	37	c.2205	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	4.957	0.177808	0.09443	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.65916	1.62;-0.18;-0.18	5.16	-4.07	0.03975	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.725251	0.14012	N	0.347423	T	0.09069	0.0224	N	0.02334	-0.595	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44847	-0.9301	10	0.02654	T	1	-1.7071	10.7485	0.46194	0.5207:0.1299:0.3494:0.0	.	448;735	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	D	735;448;468	ENSP00000360065:E735D;ENSP00000393182:E448D;ENSP00000433682:E468D	ENSP00000360065:E735D	E	-	3	2	WDR78	67065225	0.304000	0.24472	0.206000	0.23566	0.465000	0.32709	0.241000	0.18065	-0.395000	0.07715	-0.320000	0.08662	GAG	WDR78	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000152763		0.383	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	167	0.00	0	C	NM_024763		67292637	67292637	-1	no_errors	ENST00000371026	ensembl	human	known	69_37n	missense	104	15.45	19	SNP	0.011	A
WDR87	83889	genome.wustl.edu	37	19	38378199	38378199	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38378199T>G	ENST00000303868.5	-	6	6219	c.5995A>C	c.(5995-5997)Act>Cct	p.T1999P	WDR87_ENST00000447313.2_Missense_Mutation_p.T2038P	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1999	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TCAACTTGAGTCATTTTCCTT	0.413																																						dbGAP											0													77.0	60.0	65.0					19																	38378199		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5995A>C	19.37:g.38378199T>G	ENSP00000368025:p.Thr1999Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T2038P	ENST00000303868.5	37	c.6112	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	T	6.212	0.407211	0.11754	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.10099	2.91;2.91	4.7	-4.46	0.03536	.	.	.	.	.	T	0.04407	0.0121	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.40496	-0.9560	9	0.27785	T	0.31	.	1.9788	0.03422	0.1261:0.2151:0.3863:0.2724	.	1999;2038	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	P	2038;1999	ENSP00000405012:T2038P;ENSP00000368025:T1999P	ENSP00000368025:T1999P	T	-	1	0	WDR87	43070039	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.840000	0.04363	-1.161000	0.02800	0.443000	0.29094	ACT	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.413	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	128	0.00	0	T	XM_940478		38378199	38378199	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	113	24.67	37	SNP	0.000	G
WDR87	83889	genome.wustl.edu	37	19	38378957	38378957	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38378957T>A	ENST00000303868.5	-	6	5461	c.5237A>T	c.(5236-5238)aAg>aTg	p.K1746M	WDR87_ENST00000447313.2_Missense_Mutation_p.K1785M	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1746	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CAGTTTCTTCTTTTCCTCAAC	0.498																																						dbGAP											0													124.0	102.0	109.0					19																	38378957		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5237A>T	19.37:g.38378957T>A	ENSP00000368025:p.Lys1746Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1785M	ENST00000303868.5	37	c.5354	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	t	7.249	0.602900	0.13939	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.24350	1.86;1.86	4.69	-0.0491	0.13836	.	.	.	.	.	T	0.13970	0.0338	N	0.24115	0.695	0.09310	N	1	B;B	0.25667	0.063;0.131	B;B	0.18871	0.023;0.023	T	0.21759	-1.0236	9	0.48119	T	0.1	.	4.4612	0.11668	0.1474:0.3492:0.0:0.5034	.	1746;1785	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	M	1785;1746	ENSP00000405012:K1785M;ENSP00000368025:K1746M	ENSP00000368025:K1746M	K	-	2	0	WDR87	43070797	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.820000	0.04457	-0.204000	0.10235	0.439000	0.28862	AAG	WDR87	-	superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C	ENSG00000171804		0.498	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	352	0.00	0	T	XM_940478		38378957	38378957	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	310	13.13	47	SNP	0.001	A
WDR87	83889	genome.wustl.edu	37	19	38380661	38380661	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38380661T>G	ENST00000303868.5	-	6	3757	c.3533A>C	c.(3532-3534)aAa>aCa	p.K1178T	WDR87_ENST00000447313.2_Missense_Mutation_p.K1217T	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1178										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CTTGTCTCTTTTGTCACGTAT	0.378																																						dbGAP											0													257.0	186.0	208.0					19																	38380661		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3533A>C	19.37:g.38380661T>G	ENSP00000368025:p.Lys1178Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1217T	ENST00000303868.5	37	c.3650	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	T	7.168	0.586976	0.13749	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.14391	2.51;2.51	4.29	0.837	0.18896	.	0.583371	0.15033	N	0.284335	T	0.09730	0.0239	L	0.47716	1.5	0.09310	N	1	P;P	0.37781	0.608;0.608	B;B	0.32724	0.151;0.151	T	0.19712	-1.0297	10	0.54805	T	0.06	-8.4466	4.2215	0.10559	0.0:0.2094:0.1738:0.6168	.	1178;1217	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	T	1217;1178	ENSP00000405012:K1217T;ENSP00000368025:K1178T	ENSP00000368025:K1178T	K	-	2	0	WDR87	43072501	0.962000	0.33011	0.533000	0.28001	0.149000	0.21700	1.059000	0.30517	-0.085000	0.12573	0.363000	0.22086	AAA	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.378	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	199	0.00	0	T	XM_940478		38380661	38380661	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	242	12.64	35	SNP	0.037	G
WDR87	83889	genome.wustl.edu	37	19	38383348	38383348	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38383348C>T	ENST00000303868.5	-	4	3102	c.2878G>A	c.(2878-2880)Gct>Act	p.A960T	WDR87_ENST00000447313.2_Missense_Mutation_p.A999T	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	960										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AATCCTTGAGCCAGAGGCATG	0.473																																						dbGAP											0													228.0	181.0	195.0					19																	38383348		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2878G>A	19.37:g.38383348C>T	ENSP00000368025:p.Ala960Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A999T	ENST00000303868.5	37	c.2995	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077328	0.20227	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.64991	-0.13;-0.13	5.27	4.23	0.50019	.	0.377447	0.22602	N	0.057945	T	0.58595	0.2133	L	0.49350	1.555	0.22693	N	0.998844	P;P	0.47841	0.901;0.901	P;P	0.47075	0.536;0.536	T	0.53019	-0.8497	10	0.38643	T	0.18	-10.8317	8.8245	0.35047	0.0:0.8998:0.0:0.1002	.	960;999	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	T	999;960	ENSP00000405012:A999T;ENSP00000368025:A960T	ENSP00000368025:A960T	A	-	1	0	WDR87	43075188	0.998000	0.40836	0.970000	0.41538	0.254000	0.26022	1.156000	0.31712	2.450000	0.82876	0.549000	0.68633	GCT	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.473	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	217	0.00	0	C	XM_940478		38383348	38383348	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	231	15.38	42	SNP	0.965	T
WDR93	56964	genome.wustl.edu	37	15	90255298	90255298	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:90255298C>A	ENST00000268130.7	+	5	704	c.603C>A	c.(601-603)atC>atA	p.I201I	RNU6-132P_ENST00000383863.1_RNA|WDR93_ENST00000560294.1_Silent_p.I201I	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	201					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.I201I(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGATGGAGATCTCTCAAGGAG	0.403																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											86.0	86.0	86.0					15																	90255298		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.603C>A	15.37:g.90255298C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.I201	ENST00000268130.7	37	c.603	CCDS32326.1	15																																																																																			WDR93	-	superfamily_WD40_repeat_dom	ENSG00000140527		0.403	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	247	0.00	0	C	NM_020212		90255298	90255298	+1	no_errors	ENST00000268130	ensembl	human	known	69_37n	silent	172	29.67	73	SNP	0.311	A
CFAP43	80217	genome.wustl.edu	37	10	105903345	105903345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:105903345C>A	ENST00000357060.3	-	32	4112	c.3997G>T	c.(3997-3999)Gaa>Taa	p.E1333*	WDR96_ENST00000479392.1_5'Flank|WDR96_ENST00000428666.1_Nonsense_Mutation_p.E1305*	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTGGTAGTTCTCCGAAAGGG	0.413																																						dbGAP											0													130.0	125.0	127.0					10																	105903345		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000357060.3:c.3997G>T	10.37:g.105903345C>A	ENSP00000349568:p.Glu1333*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.E1333*	ENST00000357060.3	37	c.3997	CCDS31281.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.398754|4.398754	0.83120|0.83120	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000457071;ENST00000434629|ENST00000357060;ENST00000428666	.|.	.|.	.|.	6.16|6.16	5.25|5.25	0.73442|0.73442	.|.	0.791425|0.791425	0.11975|0.11975	N|N	0.511357|0.511357	T|.	0.57184|.	0.2036|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58918|.	-0.7551|.	4|.	.|0.32370	.|T	.|0.25	.|.	13.4455|13.4455	0.61138|0.61138	0.0:0.8783:0.0:0.1217|0.0:0.8783:0.0:0.1217	.|.	.|.	.|.	.|.	D|X	181;664|1333;1305	.|.	.|ENSP00000349568:E1333X	E|E	-|-	3|1	2|0	WDR96|WDR96	105893335|105893335	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	3.142000|3.142000	0.50601|0.50601	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|GAA	WDR96	-	NULL	ENSG00000197748		0.413	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		422	0.00	0	C			105903345	105903345	-1	no_errors	ENST00000357060	ensembl	human	known	69_37n	nonsense	272	12.82	40	SNP	0.996	A
CFAP43	80217	genome.wustl.edu	37	10	105907725	105907725	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:105907725G>T	ENST00000357060.3	-	29	3807	c.3692C>A	c.(3691-3693)tCt>tAt	p.S1231Y	WDR96_ENST00000428666.1_Missense_Mutation_p.S1232Y	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAACAATAAAGAAAATGCAAG	0.333																																						dbGAP											0													86.0	84.0	84.0					10																	105907725		2200	4299	6499	-	-	-	SO:0001583	missense	0																														ENST00000357060.3:c.3692C>A	10.37:g.105907725G>T	ENSP00000349568:p.Ser1231Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.S1231Y	ENST00000357060.3	37	c.3692	CCDS31281.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.271708|4.271708	0.80469|0.80469	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000457071;ENST00000434629|ENST00000357060;ENST00000428666	.|T;T	.|0.16196	.|2.37;2.36	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.055024	.|0.85682	.|D	.|0.000000	T|T	0.45316|0.45316	0.1336|0.1336	M|M	0.77616|0.77616	2.38|2.38	0.58432|0.58432	D|D	0.999991|0.999991	.|P;D	.|0.89917	.|0.845;1.0	.|P;D	.|0.78314	.|0.644;0.991	T|T	0.07520|0.07520	-1.0768|-1.0768	5|10	.|0.32370	.|T	.|0.25	.|.	19.4308|19.4308	0.94765|0.94765	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1232;1231	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	I|Y	80;592|1231;1232	.|ENSP00000349568:S1231Y;ENSP00000400289:S1232Y	.|ENSP00000349568:S1231Y	L|S	-|-	1|2	0|0	WDR96|WDR96	105897715|105897715	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.785000|0.785000	0.44390|0.44390	6.713000|6.713000	0.74686|0.74686	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CTT|TCT	WDR96	-	NULL	ENSG00000197748		0.333	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR96	HGNC	protein_coding		319	0.00	0	G			105907725	105907725	-1	no_errors	ENST00000357060	ensembl	human	known	69_37n	missense	202	25.46	69	SNP	1.000	T
WFDC12	128488	genome.wustl.edu	37	20	43753073	43753073	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43753073A>C	ENST00000372785.3	-	1	33	c.16T>G	c.(16-18)Ttc>Gtc	p.F6V		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	6					defense response to bacterium (GO:0042742)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				AGGACCAAGAAGCTGCTGGAC	0.597																																						dbGAP											0													96.0	94.0	94.0					20																	43753073		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z93016	CCDS13343.1	20q13.12	2013-01-21	2003-02-21	2003-02-21	ENSG00000168703	ENSG00000168703		"""WAP four-disulfide core domain containing"""	16115	protein-coding gene	gene with protein product		609872	"""chromosome 20 open reading frame 122"""	C20orf122		11779191, 12206714	Standard	NM_080869		Approved	dJ211D12.4, WAP2	uc002xnf.1	Q8WWY7	OTTHUMG00000046412	ENST00000372785.3:c.16T>G	20.37:g.43753073A>C	ENSP00000361871:p.Phe6Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H980|Q9BR31	Missense_Mutation	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.F6V	ENST00000372785.3	37	c.16	CCDS13343.1	20	.	.	.	.	.	.	.	.	.	.	A	10.48	1.360708	0.24598	.	.	ENSG00000168703	ENST00000372785	T	0.41758	0.99	2.86	0.447	0.16608	.	.	.	.	.	T	0.24392	0.0591	L	0.38649	1.16	0.09310	N	1	B	0.33883	0.43	B	0.24541	0.054	T	0.21965	-1.0230	9	0.62326	D	0.03	-3.6953	1.9002	0.03266	0.5412:0.0:0.1666:0.2922	.	6	Q8WWY7	WFD12_HUMAN	V	6	ENSP00000361871:F6V	ENSP00000361871:F6V	F	-	1	0	WFDC12	43186487	0.042000	0.20092	0.014000	0.15608	0.006000	0.05464	0.064000	0.14437	0.276000	0.22118	0.455000	0.32223	TTC	WFDC12	-	NULL	ENSG00000168703		0.597	WFDC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC12	HGNC	protein_coding	OTTHUMT00000107194.1	332	0.00	0	A			43753073	43753073	-1	no_errors	ENST00000372785	ensembl	human	known	69_37n	missense	162	27.68	62	SNP	0.010	C
WHAMMP2	440253	genome.wustl.edu	37	15	28999627	28999627	+	RNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:28999627G>T	ENST00000512149.2	+	0	305					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		TCAGTGCAAAGAAAATCATTG	0.393																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28999627G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.393	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	110	0.00	0	G	NR_026589		28999627	28999627	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	69	14.81	12	SNP	1.000	T
WHSC1L1	54904	genome.wustl.edu	37	8	38162118	38162118	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38162118G>A	ENST00000317025.8	-	14	3115	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	WHSC1L1_ENST00000433384.2_Silent_p.F866F|WHSC1L1_ENST00000527502.1_Silent_p.F866F	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	866					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGGCACAAACGAAACAAAAGC	0.403			T	NUP98	AML																																	dbGAP		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													137.0	135.0	135.0					8																	38162118		1907	4119	6026	-	-	-	SO:0001819	synonymous_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2598C>T	8.37:g.38162118G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.F866	ENST00000317025.8	37	c.2598	CCDS43729.1	8																																																																																			WHSC1L1	-	NULL	ENSG00000147548		0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	87	0.00	0	G	NM_023034		38162118	38162118	-1	no_errors	ENST00000317025	ensembl	human	known	69_37n	silent	40	37.88	25	SNP	1.000	A
WHSC1L1	54904	genome.wustl.edu	37	8	38162250	38162250	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:38162250A>G	ENST00000317025.8	-	14	2983	c.2466T>C	c.(2464-2466)tgT>tgC	p.C822C	WHSC1L1_ENST00000433384.2_Silent_p.C822C|WHSC1L1_ENST00000527502.1_Silent_p.C822C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	822					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGGCAACTGGACATCTTAAAC	0.428			T	NUP98	AML																																	dbGAP		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													97.0	90.0	92.0					8																	38162250		1917	4136	6053	-	-	-	SO:0001819	synonymous_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.2466T>C	8.37:g.38162250A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.C822	ENST00000317025.8	37	c.2466	CCDS43729.1	8																																																																																			WHSC1L1	-	smart_Znf_PHD	ENSG00000147548		0.428	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	119	0.00	0	A	NM_023034		38162250	38162250	-1	no_errors	ENST00000317025	ensembl	human	known	69_37n	silent	85	11.46	11	SNP	0.993	G
NELFA	7469	genome.wustl.edu	37	4	1985184	1985184	+	Silent	SNP	G	G	A	rs376350099		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:1985184G>A	ENST00000411638.2	-	11	1464	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	NELFA_ENST00000542778.1_Silent_p.S348S|MIR943_ENST00000401286.1_RNA|NELFA_ENST00000382882.3_Silent_p.S494S	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	483					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCGTGTGCTCGCTCAGCTTGA	0.647																																						dbGAP											0													173.0	157.0	162.0					4																	1985184		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1449C>T	4.37:g.1985184G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T1|O95392	Silent	SNP	NULL	p.S494	ENST00000411638.2	37	c.1482		4																																																																																			WHSC2	-	NULL	ENSG00000185049		0.647	NELFA-015	NOVEL	basic|appris_principal	protein_coding	WHSC2	HGNC	protein_coding	OTTHUMT00000473007.1	85	0.00	0	G	NM_005663		1985184	1985184	-1	no_errors	ENST00000382882	ensembl	human	known	69_37n	silent	34	10.26	4	SNP	1.000	A
WIPF3	644150	genome.wustl.edu	37	7	29915470	29915470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:29915470C>T	ENST00000409290.1	+	2	115	c.115C>T	c.(115-117)Cga>Tga	p.R39*	WIPF3_ENST00000242140.5_Nonsense_Mutation_p.R39*|WIPF3_ENST00000409123.1_Nonsense_Mutation_p.R39*	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	39					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CTCCAGCTTGCGAAGGGCAGA	0.517																																						dbGAP											0													64.0	71.0	68.0					7																	29915470		2101	4232	6333	-	-	-	SO:0001587	stop_gained	0			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.115C>T	7.37:g.29915470C>T	ENSP00000386878:p.Arg39*	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZV2	Nonsense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R39*	ENST00000409290.1	37	c.115	CCDS56472.1	7	.	.	.	.	.	.	.	.	.	.	C	14.64	2.597050	0.46318	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	.	.	.	5.22	2.77	0.32553	.	0.719037	0.11934	N	0.515407	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6329	0.39789	0.652:0.348:0.0:0.0	.	.	.	.	X	39	.	ENSP00000242140:R39X	R	+	1	2	WIPF3	29881995	0.159000	0.22864	0.071000	0.20095	0.236000	0.25371	1.086000	0.30853	0.291000	0.22468	-0.285000	0.09966	CGA	WIPF3	-	NULL	ENSG00000122574		0.517	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	WIPF3	HGNC	protein_coding	OTTHUMT00000327705.1	114	0.00	0	C			29915470	29915470	+1	no_errors	ENST00000242140	ensembl	human	known	69_37n	nonsense	84	16.00	16	SNP	0.028	T
WLS	79971	genome.wustl.edu	37	1	68603489	68603489	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:68603489T>G	ENST00000262348.4	-	11	1743	c.1490A>C	c.(1489-1491)aAa>aCa	p.K497T	WLS_ENST00000540432.1_Missense_Mutation_p.K497T|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.K495T|WLS_ENST00000370976.3_Missense_Mutation_p.K406T|GNG12-AS1_ENST00000434072.1_RNA|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	497					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TCCATAGTTTTTATGGGATGG	0.413																																						dbGAP											0													146.0	137.0	140.0					1																	68603489		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1490A>C	1.37:g.68603489T>G	ENSP00000262348:p.Lys497Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.K497T	ENST00000262348.4	37	c.1490	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987331	0.74589	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59609	0.2206	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;0.995	D;D;D;D	0.75484	0.921;0.986;0.986;0.921	T	0.63207	-0.6689	10	0.54805	T	0.06	0.057	15.5932	0.76554	0.0:0.0:0.0:1.0	.	497;406;497;495	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	T	497;495;497;406	ENSP00000446112:K497T;ENSP00000346829:K495T;ENSP00000262348:K497T;ENSP00000360015:K406T	ENSP00000262348:K497T	K	-	2	0	WLS	68376077	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.655000	0.83696	2.144000	0.66660	0.528000	0.53228	AAA	WLS	-	NULL	ENSG00000116729		0.413	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	181	0.00	0	T	NM_024911		68603489	68603489	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	missense	125	25.60	43	SNP	1.000	G
WNK1	65125	genome.wustl.edu	37	12	1005287	1005287	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:1005287A>C	ENST00000315939.6	+	24	6277	c.5634A>C	c.(5632-5634)gaA>gaC	p.E1878D	WNK1_ENST00000340908.4_Missense_Mutation_p.E1471D|WNK1_ENST00000530271.2_Missense_Mutation_p.E2376D|WNK1_ENST00000535572.1_Missense_Mutation_p.E1630D|WNK1_ENST00000537687.1_Missense_Mutation_p.E2138D	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1878					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATAAGTCAGAAGATGCAAAGT	0.408																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													88.0	89.0	89.0					12																	1005287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5634A>C	12.37:g.1005287A>C	ENSP00000313059:p.Glu1878Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E2376D	ENST00000315939.6	37	c.7128	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	13.86	2.361782	0.41801	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.73258	-0.71;-0.68;-0.67;-0.73;0.55	5.92	3.55	0.40652	.	0.093213	0.47852	D	0.000212	T	0.63733	0.2536	L	0.56769	1.78	0.26740	N	0.970408	D;P;P	0.56521	0.976;0.933;0.89	P;B;B	0.48400	0.576;0.437;0.253	T	0.56282	-0.8005	10	0.23891	T	0.37	-18.2356	1.5802	0.02633	0.5288:0.1321:0.2119:0.1271	.	1631;1630;1878	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	D	1630;1878;2138;1051;2376;1471	ENSP00000441972:E1630D;ENSP00000313059:E1878D;ENSP00000444465:E2138D;ENSP00000433548:E2376D;ENSP00000341292:E1471D	ENSP00000252477:E1051D	E	+	3	2	WNK1	875548	0.979000	0.34478	1.000000	0.80357	0.846000	0.48090	0.404000	0.20999	1.063000	0.40649	0.533000	0.62120	GAA	WNK1	-	NULL	ENSG00000060237		0.408	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	162	0.00	0	A	NM_018979		1005287	1005287	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	127	19.62	31	SNP	0.986	C
WNK1	65125	genome.wustl.edu	37	12	1006808	1006808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:1006808C>T	ENST00000315939.6	+	25	7052	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*	WNK1_ENST00000340908.4_Nonsense_Mutation_p.R1730*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.R2635*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.R1889*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.R2397*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2137					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAAATCTAGTCGAAGCAGTTC	0.517																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													56.0	56.0	56.0					12																	1006808		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6409C>T	12.37:g.1006808C>T	ENSP00000313059:p.Arg2137*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R2635*	ENST00000315939.6	37	c.7903	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	51	18.365432	0.99904	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-8.083	19.2572	0.93951	0.0:1.0:0.0:0.0	.	.	.	.	X	1889;2137;2397;1310;2635;79;1730	.	ENSP00000252477:R1310X	R	+	1	2	WNK1	877069	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.616000	0.54174	2.554000	0.86153	0.561000	0.74099	CGA	WNK1	-	NULL	ENSG00000060237		0.517	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	166	0.00	0	C	NM_018979		1006808	1006808	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	nonsense	140	13.04	21	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54264797	54264797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54264797G>T	ENST00000375159.2	-	18	3991	c.3992C>A	c.(3991-3993)tCa>tAa	p.S1331*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.S1331*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.S1284*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1331					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CCGCTGAAATGATCCACTCAT	0.443																																						dbGAP											0													106.0	90.0	96.0					X																	54264797		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3992C>A	X.37:g.54264797G>T	ENSP00000364301:p.Ser1331*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1331*	ENST00000375159.2	37	c.3992	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.713481	0.99245	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.17	5.17	0.71159	.	0.000000	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-10.9927	16.4683	0.84092	0.0:0.0:1.0:0.0	.	.	.	.	X	1284;1331;1331	.	ENSP00000346667:S1331X	S	-	2	0	WNK3	54281522	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.075000	0.64407	2.144000	0.66660	0.600000	0.82982	TCA	WNK3	-	NULL	ENSG00000196632		0.443	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	279	0.00	0	G	NM_020922		54264797	54264797	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	nonsense	217	16.54	43	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54275241	54275241	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54275241C>A	ENST00000375159.2	-	16	3539	c.3540G>T	c.(3538-3540)caG>caT	p.Q1180H	WNK3_ENST00000354646.2_Missense_Mutation_p.Q1180H|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1180H			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1180					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAGAGCCTGTCTGTTGGAAAT	0.458																																						dbGAP											0													84.0	78.0	80.0					X																	54275241		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3540G>T	X.37:g.54275241C>A	ENSP00000364301:p.Gln1180His	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1180H	ENST00000375159.2	37	c.3540	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	9.320	1.057893	0.19987	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71461	-0.57;-0.57;-0.57	5.19	3.38	0.38709	.	0.338999	0.25634	N	0.029333	T	0.57489	0.2057	N	0.24115	0.695	0.23356	N	0.997849	P;P	0.41569	0.755;0.641	B;B	0.44224	0.444;0.259	T	0.50508	-0.8820	10	0.54805	T	0.06	-0.0203	6.7303	0.23379	0.1761:0.7286:0.0:0.0953	.	1180;1180	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	H	1180	ENSP00000364312:Q1180H;ENSP00000346667:Q1180H;ENSP00000364301:Q1180H	ENSP00000346667:Q1180H	Q	-	3	2	WNK3	54291966	0.982000	0.34865	0.901000	0.35422	0.559000	0.35586	0.882000	0.28186	0.385000	0.24970	0.544000	0.68410	CAG	WNK3	-	NULL	ENSG00000196632		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	166	0.00	0	C	NM_020922		54275241	54275241	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	82	28.07	32	SNP	0.776	A
WNK3	65267	genome.wustl.edu	37	X	54275489	54275489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54275489C>A	ENST00000375159.2	-	16	3291	c.3292G>T	c.(3292-3294)Gaa>Taa	p.E1098*	WNK3_ENST00000354646.2_Nonsense_Mutation_p.E1098*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.E1098*			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1098					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGAGGTCTTTCTCCATCTGAT	0.448																																						dbGAP											0													99.0	89.0	93.0					X																	54275489		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3292G>T	X.37:g.54275489C>A	ENSP00000364301:p.Glu1098*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1098*	ENST00000375159.2	37	c.3292	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	41	9.004999	0.99033	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	.	.	.	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-16.5613	16.1248	0.81383	0.0:1.0:0.0:0.0	.	.	.	.	X	1098	.	ENSP00000346667:E1098X	E	-	1	0	WNK3	54292214	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.049000	0.76613	2.057000	0.61298	0.422000	0.28245	GAA	WNK3	-	NULL	ENSG00000196632		0.448	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	518	0.38	2	C	NM_020922		54275489	54275489	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	nonsense	375	13.19	57	SNP	1.000	A
WNK3	65267	genome.wustl.edu	37	X	54282244	54282244	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:54282244G>A	ENST00000375159.2	-	11	2178	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	WNK3_ENST00000354646.2_Missense_Mutation_p.R727W|WNK3_ENST00000375169.3_Missense_Mutation_p.R727W			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	727					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTTGATCCGATCCTGTTTG	0.413																																						dbGAP											0													174.0	147.0	156.0					X																	54282244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2179C>T	X.37:g.54282244G>A	ENSP00000364301:p.Arg727Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R727W	ENST00000375159.2	37	c.2179	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455284	0.63401	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.46819	0.86;0.86;0.86	5.25	3.33	0.38152	.	0.000000	0.47455	D	0.000227	T	0.51398	0.1672	L	0.29908	0.895	0.24973	N	0.991658	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.928	T	0.37197	-0.9716	10	0.59425	D	0.04	-10.2316	9.112	0.36734	0.0:0.0:0.6032:0.3968	.	727;727	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	W	727	ENSP00000364312:R727W;ENSP00000346667:R727W;ENSP00000364301:R727W	ENSP00000346667:R727W	R	-	1	2	WNK3	54298969	0.999000	0.42202	1.000000	0.80357	0.960000	0.62799	1.115000	0.31209	0.954000	0.37851	0.594000	0.82650	CGG	WNK3	-	NULL	ENSG00000196632		0.413	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	519	0.00	0	G	NM_020922		54282244	54282244	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	243	25.98	86	SNP	0.997	A
WNT7A	7476	genome.wustl.edu	37	3	13860507	13860507	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:13860507G>A	ENST00000285018.4	-	4	1288	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	328					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AGCACCAGTGGAACTTACAGT	0.617																																						dbGAP											0													66.0	53.0	57.0					3																	13860507		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.984C>T	3.37:g.13860507G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H90|Q9Y560	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.F328	ENST00000285018.4	37	c.984	CCDS2616.1	3																																																																																			WNT7A	-	pfam_Wnt,smart_Wnt	ENSG00000154764		0.617	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7A	HGNC	protein_coding	OTTHUMT00000252031.2	78	0.00	0	G	NM_004625		13860507	13860507	-1	no_errors	ENST00000285018	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	1.000	A
WNT8A	7478	genome.wustl.edu	37	5	137423580	137423580	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:137423580C>T	ENST00000398754.1	+	4	332	c.327C>T	c.(325-327)ttC>ttT	p.F109F	WNT8A_ENST00000506684.1_Silent_p.F127F	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	109					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGGTGACTTCGAAAACTGTG	0.478																																						dbGAP											0													172.0	176.0	175.0					5																	137423580		2002	4197	6199	-	-	-	SO:0001819	synonymous_variant	0			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.327C>T	5.37:g.137423580C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96S51	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.F109	ENST00000398754.1	37	c.327	CCDS43368.1	5																																																																																			WNT8A	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000061492		0.478	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8A	HGNC	protein_coding	OTTHUMT00000280395.1	300	0.00	0	C	NM_058244		137423580	137423580	+1	no_errors	ENST00000361560	ensembl	human	known	69_37n	silent	199	21.03	53	SNP	1.000	T
WRN	7486	genome.wustl.edu	37	8	30941280	30941280	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:30941280A>C	ENST00000298139.5	+	10	1584	c.1335A>C	c.(1333-1335)gaA>gaC	p.E445D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	445	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAGATTTAGAAATGGAGATGC	0.249			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													78.0	76.0	77.0					8																	30941280		2200	4278	6478	-	-	-	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1335A>C	8.37:g.30941280A>C	ENSP00000298139:p.Glu445Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E445D	ENST00000298139.5	37	c.1335	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	a	7.019	0.558293	0.13436	.	.	ENSG00000165392	ENST00000298139	T	0.46451	0.87	4.25	1.77	0.24775	.	0.119316	0.56097	D	0.000039	T	0.24044	0.0582	N	0.22421	0.69	0.32680	N	0.515694	P	0.38473	0.633	B	0.36030	0.216	T	0.26883	-1.0090	10	0.29301	T	0.29	.	7.836	0.29369	0.8148:0.0:0.1852:0.0	.	445	Q14191	WRN_HUMAN	D	445	ENSP00000298139:E445D	ENSP00000298139:E445D	E	+	3	2	WRN	31060822	1.000000	0.71417	0.993000	0.49108	0.535000	0.34838	1.460000	0.35244	0.509000	0.28195	0.254000	0.18369	GAA	WRN	-	NULL	ENSG00000165392		0.249	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	622	0.00	0	A			30941280	30941280	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	missense	287	22.79	85	SNP	0.885	C
WWC1	23286	genome.wustl.edu	37	5	167835597	167835597	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:167835597C>T	ENST00000265293.4	+	7	1308	c.806C>T	c.(805-807)tCg>tTg	p.S269L	WWC1_ENST00000521089.1_Missense_Mutation_p.S269L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	269					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGGAGAGTTCGAGTTTCCCG	0.597																																						dbGAP											0													139.0	134.0	136.0					5																	167835597		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.806C>T	5.37:g.167835597C>T	ENSP00000265293:p.Ser269Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S269L	ENST00000265293.4	37	c.806	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788035	0.70337	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.07567	3.18;3.18	5.22	5.22	0.72569	.	0.074314	0.56097	D	0.000031	T	0.27134	0.0665	L	0.59436	1.845	0.80722	D	1	P;D;D;D	0.89917	0.919;1.0;0.999;1.0	B;D;D;D	0.83275	0.271;0.959;0.956;0.996	T	0.00392	-1.1768	10	0.42905	T	0.14	.	18.7966	0.91997	0.0:1.0:0.0:0.0	.	269;175;175;269	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	L	269	ENSP00000265293:S269L;ENSP00000427772:S269L	ENSP00000265293:S269L	S	+	2	0	WWC1	167768175	1.000000	0.71417	0.923000	0.36655	0.265000	0.26407	4.849000	0.62882	2.427000	0.82271	0.655000	0.94253	TCG	WWC1	-	NULL	ENSG00000113645		0.597	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	135	0.00	0	C	NM_015238		167835597	167835597	+1	no_errors	ENST00000265293	ensembl	human	known	69_37n	missense	86	28.69	35	SNP	0.999	T
WWC2	80014	genome.wustl.edu	37	4	184019113	184019113	+	5'Flank	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:184019113C>T	ENST00000403733.3	+	0	0				WWC2_ENST00000448232.2_5'Flank|RP11-335L23.5_ENST00000610012.1_lincRNA|WWC2_ENST00000513834.1_5'Flank|WWC2-AS2_ENST00000578387.1_lincRNA|WWC2_ENST00000378925.3_5'Flank	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GACTGGGCTTCGGGGCCTTCC	0.577																																						dbGAP											0													31.0	34.0	33.0					4																	184019113		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685		4.37:g.184019113C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	RNA	SNP	-	NULL	ENST00000403733.3	37	NULL	CCDS34109.2	4																																																																																			WWC2-AS2	-	-	ENSG00000251359		0.577	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2-AS2	HGNC	protein_coding	OTTHUMT00000319608.1	62	0.00	0	C	NM_024949		184019113	184019113	-1	no_errors	ENST00000506413	ensembl	human	known	69_37n	rna	6	45.45	5	SNP	0.000	T
WWC2	80014	genome.wustl.edu	37	4	184019144	184019144	+	5'Flank	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:184019144G>T	ENST00000403733.3	+	0	0				WWC2_ENST00000448232.2_5'Flank|RP11-335L23.5_ENST00000610012.1_lincRNA|WWC2_ENST00000513834.1_5'Flank|WWC2-AS2_ENST00000578387.1_lincRNA|WWC2_ENST00000378925.3_5'Flank	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TATTTTAAAAGAAGCTGCTCA	0.582																																						dbGAP											0													43.0	48.0	47.0					4																	184019144		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685		4.37:g.184019144G>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	RNA	SNP	-	NULL	ENST00000403733.3	37	NULL	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450863	0.26074	.	.	ENSG00000251359	ENST00000506413	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	T	0.48333	0.1494	.	.	.	.	.	.	P	0.50156	0.932	P	0.47470	0.548	T	0.64542	-0.6383	6	0.87932	D	0	.	10.3046	0.43672	0.0:0.0:1.0:0.0	.	199	Q96NR7	CD038_HUMAN	L	199	.	ENSP00000421843:F199L	F	-	3	2	C4orf38	184256138	0.996000	0.38824	0.092000	0.20876	0.165000	0.22458	1.886000	0.39688	2.131000	0.65755	0.511000	0.50034	TTC	WWC2-AS2	-	-	ENSG00000251359		0.582	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2-AS2	HGNC	protein_coding	OTTHUMT00000319608.1	74	0.00	0	G	NM_024949		184019144	184019144	-1	no_errors	ENST00000506413	ensembl	human	known	69_37n	rna	13	31.58	6	SNP	0.134	T
WWP1	11059	genome.wustl.edu	37	8	87437463	87437463	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:87437463G>T	ENST00000517970.1	+	10	1380	c.1073G>T	c.(1072-1074)aGa>aTa	p.R358I	WWP1_ENST00000349423.2_Missense_Mutation_p.R140I|WWP1_ENST00000341922.2_Missense_Mutation_p.R228I|WWP1_ENST00000265428.4_Missense_Mutation_p.R358I	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	358	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGGGAACAAAGAAAAGATCCT	0.348																																						dbGAP											0													79.0	71.0	74.0					8																	87437463		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1073G>T	8.37:g.87437463G>T	ENSP00000427793:p.Arg358Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.R358I	ENST00000517970.1	37	c.1073	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023726	0.93462	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.27	5.27	0.74061	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94841	0.8005	10	0.87932	D	0	.	18.901	0.92443	0.0:0.0:1.0:0.0	.	140;358	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	I	358;358;228;140	ENSP00000427793:R358I;ENSP00000265428:R358I;ENSP00000340564:R228I;ENSP00000342665:R140I	ENSP00000265428:R358I	R	+	2	0	WWP1	87506579	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.462000	0.83206	0.650000	0.86243	AGA	WWP1	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	ENSG00000123124		0.348	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1	278	0.36	1	G	NM_007013		87437463	87437463	+1	no_errors	ENST00000265428	ensembl	human	known	69_37n	missense	113	24.16	36	SNP	1.000	T
XDH	7498	genome.wustl.edu	37	2	31609390	31609390	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:31609390C>T	ENST00000379416.3	-	9	731	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	228					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CCCTTCAAATCGCAGCTGCTT	0.522																																					Colon(66;682 1445 30109 40147)	dbGAP											0													121.0	103.0	109.0					2																	31609390		2203	4300	6503	-	-	-	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.683G>A	2.37:g.31609390C>T	ENSP00000368727:p.Arg228Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.R228Q	ENST00000379416.3	37	c.683	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594406	0.13875	.	.	ENSG00000158125	ENST00000379416	T	0.22134	1.97	5.7	2.9	0.33743	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (1);Xanthine dehydrogenase, small subunit (1);	0.368772	0.37906	N	0.001895	T	0.22475	0.0542	M	0.69823	2.125	0.09310	N	1	B	0.17268	0.021	B	0.10450	0.005	T	0.19386	-1.0307	10	0.27082	T	0.32	.	10.5338	0.44992	0.0:0.6808:0.2499:0.0693	.	228	P47989	XDH_HUMAN	Q	228	ENSP00000368727:R228Q	ENSP00000368727:R228Q	R	-	2	0	XDH	31462894	0.684000	0.27642	0.013000	0.15412	0.043000	0.13939	3.444000	0.52914	0.339000	0.23719	-0.195000	0.12781	CGA	XDH	-	superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.522	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	177	0.00	0	C	NM_000379		31609390	31609390	-1	no_errors	ENST00000379416	ensembl	human	known	69_37n	missense	128	21.95	36	SNP	0.184	T
XIRP2	129446	genome.wustl.edu	37	2	167760060	167760060	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:167760060G>T	ENST00000409728.1	+	2	157	c.68G>T	c.(67-69)aGa>aTa	p.R23I	XIRP2_ENST00000295237.9_Missense_Mutation_p.R23I|XIRP2_ENST00000420519.1_Missense_Mutation_p.R23I|XIRP2_ENST00000409043.1_Missense_Mutation_p.R23I|XIRP2_ENST00000409195.1_Missense_Mutation_p.R23I|XIRP2_ENST00000409756.2_Missense_Mutation_p.R23I	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATTATCAGAGAAGTGAGTGT	0.483																																						dbGAP											0													69.0	68.0	68.0					2																	167760060		1934	4141	6075	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.68G>T	2.37:g.167760060G>T	ENSP00000386619:p.Arg23Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.R23I	ENST00000409728.1	37	c.68	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702574	0.30232	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.80033	-1.32;-1.33;4.03;-1.32;-1.33;4.03	5.36	1.93	0.25924	.	.	.	.	.	T	0.79470	0.4451	.	.	.	0.34284	D	0.682538	P;P	0.47677	0.828;0.899	P;P	0.48400	0.576;0.576	T	0.80466	-0.1370	8	0.72032	D	0.01	-1.5403	6.3132	0.21176	0.4705:0.0:0.5295:0.0	.	23;23	A4UGR9-4;A4UGR9-6	.;.	I	23	ENSP00000386454:R23I;ENSP00000386619:R23I;ENSP00000386840:R23I;ENSP00000386724:R23I;ENSP00000415541:R23I;ENSP00000295237:R23I	ENSP00000295237:R23I	R	+	2	0	XIRP2	167468306	0.997000	0.39634	0.218000	0.23776	0.125000	0.20455	0.867000	0.27968	0.097000	0.17492	-0.302000	0.09304	AGA	XIRP2	-	NULL	ENSG00000163092		0.483	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	95	0.00	0	G	NM_152381		167760060	167760060	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.720	T
XIRP2	129446	genome.wustl.edu	37	2	168100929	168100929	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:168100929C>T	ENST00000409195.1	+	9	3116	c.3027C>T	c.(3025-3027)atC>atT	p.I1009I	XIRP2_ENST00000295237.9_Silent_p.I1009I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I787I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	834					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAAGAAATCGTAAGAGGTG	0.363																																						dbGAP											0													64.0	60.0	61.0					2																	168100929		1863	4110	5973	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3027C>T	2.37:g.168100929C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.I1009	ENST00000409195.1	37	c.3027	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	141	0.00	0	C	NM_152381		168100929	168100929	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	61	27.38	23	SNP	0.225	T
XIRP2	129446	genome.wustl.edu	37	2	168101260	168101260	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:168101260C>A	ENST00000409195.1	+	9	3447	c.3358C>A	c.(3358-3360)Cat>Aat	p.H1120N	XIRP2_ENST00000295237.9_Missense_Mutation_p.H1120N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H898N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	945					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGAAATTCATAAGGGAGA	0.378																																						dbGAP											0													60.0	56.0	57.0					2																	168101260		1837	4086	5923	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3358C>A	2.37:g.168101260C>A	ENSP00000386840:p.His1120Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.H1120N	ENST00000409195.1	37	c.3358	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507141	0.27036	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02498	4.27;4.27;4.27	6.08	5.2	0.72013	.	0.524558	0.22903	N	0.054235	T	0.04634	0.0126	L	0.44542	1.39	0.28462	N	0.91582	P;P;P	0.37276	0.454;0.589;0.589	B;B;B	0.41619	0.198;0.361;0.361	T	0.30765	-0.9967	10	0.18710	T	0.47	-3.3768	14.373	0.66854	0.0:0.9283:0.0:0.0717	.	945;945;898	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1120;1120;898	ENSP00000386840:H1120N;ENSP00000295237:H1120N;ENSP00000387255:H898N	ENSP00000295237:H1120N	H	+	1	0	XIRP2	167809506	0.372000	0.25064	1.000000	0.80357	0.861000	0.49209	1.169000	0.31871	1.591000	0.50007	-0.140000	0.14226	CAT	XIRP2	-	NULL	ENSG00000163092		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	174	0.00	0	C	NM_152381		168101260	168101260	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	97	24.81	32	SNP	0.998	A
XIRP2	129446	genome.wustl.edu	37	2	168101984	168101984	+	Missense_Mutation	SNP	C	C	A	rs139379772	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:168101984C>A	ENST00000409195.1	+	9	4171	c.4082C>A	c.(4081-4083)tCt>tAt	p.S1361Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.S1361Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1139Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1186					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCATTAGACTCTATTAATAAA	0.368																																						dbGAP											0													68.0	64.0	65.0					2																	168101984		1846	4088	5934	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4082C>A	2.37:g.168101984C>A	ENSP00000386840:p.Ser1361Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.S1361Y	ENST00000409195.1	37	c.4082	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195736	0.38806	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03301	3.98;3.98;3.98	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	M	0.72479	2.2	0.58432	D	0.999995	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.62560	0.75;0.904;0.904	T	0.00008	-1.2486	10	0.72032	D	0.01	-11.7491	15.5119	0.75789	0.1389:0.8611:0.0:0.0	.	1186;1186;1139	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1361;1361;1139	ENSP00000386840:S1361Y;ENSP00000295237:S1361Y;ENSP00000387255:S1139Y	ENSP00000295237:S1361Y	S	+	2	0	XIRP2	167810230	0.810000	0.29049	1.000000	0.80357	0.341000	0.28922	5.853000	0.69496	2.744000	0.94065	0.563000	0.77884	TCT	XIRP2	-	NULL	ENSG00000163092		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	147	0.00	0	C	NM_152381		168101984	168101984	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	117	20.41	30	SNP	0.995	A
XIRP2	129446	genome.wustl.edu	37	2	168103495	168103495	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:168103495A>C	ENST00000409195.1	+	9	5682	c.5593A>C	c.(5593-5595)Aaa>Caa	p.K1865Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.K1865Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1643Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1690					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAATTATAAAAGGTAACAT	0.388																																						dbGAP											0													74.0	66.0	69.0					2																	168103495		1861	4105	5966	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5593A>C	2.37:g.168103495A>C	ENSP00000386840:p.Lys1865Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.K1865Q	ENST00000409195.1	37	c.5593	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416334	0.42918	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03212	4.01;4.01;4.01	5.76	5.76	0.90799	.	0.045481	0.85682	D	0.000000	T	0.18045	0.0433	M	0.73598	2.24	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.995	T	0.00133	-1.2010	10	0.52906	T	0.07	-31.1789	15.0548	0.71904	1.0:0.0:0.0:0.0	.	1690;1690;1643	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	1865;1865;1643	ENSP00000386840:K1865Q;ENSP00000295237:K1865Q;ENSP00000387255:K1643Q	ENSP00000295237:K1865Q	K	+	1	0	XIRP2	167811741	1.000000	0.71417	0.914000	0.36105	0.094000	0.18550	5.593000	0.67550	2.199000	0.70637	0.528000	0.53228	AAA	XIRP2	-	NULL	ENSG00000163092		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	165	0.00	0	A	NM_152381		168103495	168103495	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	114	17.99	25	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168103710	168103710	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:168103710C>T	ENST00000409195.1	+	9	5897	c.5808C>T	c.(5806-5808)ttC>ttT	p.F1936F	XIRP2_ENST00000295237.9_Silent_p.F1936F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F1714F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1761					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGAAGTTTCAAAGAGGTAC	0.378																																						dbGAP											0													48.0	45.0	46.0					2																	168103710		1833	4094	5927	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5808C>T	2.37:g.168103710C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.F1936	ENST00000409195.1	37	c.5808	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	240	0.00	0	C	NM_152381		168103710	168103710	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	143	13.25	22	SNP	0.974	T
XIRP2	129446	genome.wustl.edu	37	2	168107319	168107319	+	Silent	SNP	C	C	T	rs556211010		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:168107319C>T	ENST00000409195.1	+	9	9506	c.9417C>T	c.(9415-9417)aaC>aaT	p.N3139N	XIRP2_ENST00000295237.9_Silent_p.N3139N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.N2917N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2964					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACTAAGAACGAGCTTTCTC	0.448																																						dbGAP											0													79.0	76.0	77.0					2																	168107319		1866	4089	5955	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9417C>T	2.37:g.168107319C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.N3139	ENST00000409195.1	37	c.9417	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	152	0.00	0	C	NM_152381		168107319	168107319	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	85	11.46	11	SNP	0.000	T
XK	7504	genome.wustl.edu	37	X	37587124	37587124	+	Missense_Mutation	SNP	C	C	A	rs17853506		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:37587124C>A	ENST00000378616.3	+	3	947	c.744C>A	c.(742-744)ttC>ttA	p.F248L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	248				F -> L (in Ref. 3 and 5). {ECO:0000305}.	amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TCTTCAGTTTCTTCTTGTACC	0.498																																						dbGAP											0													135.0	107.0	117.0					X																	37587124		2202	4300	6502	-	-	-	SO:0001583	missense	0			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.744C>A	X.37:g.37587124C>A	ENSP00000367879:p.Phe248Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.F248L	ENST00000378616.3	37	c.744	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488075	0.44249	.	.	ENSG00000047597	ENST00000378616	T	0.61742	0.08	5.41	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	M	0.64170	1.965	0.58432	D	0.999999	P	0.49307	0.922	P	0.48598	0.583	T	0.56226	-0.8014	10	0.30854	T	0.27	-31.1146	10.6166	0.45454	0.0:0.7106:0.0:0.2894	.	248	P51811	XK_HUMAN	L	248	ENSP00000367879:F248L	ENSP00000367879:F248L	F	+	3	2	XK	37472063	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	2.135000	0.42112	1.067000	0.40740	-0.192000	0.12808	TTC	XK	-	pfam_Transport_prot_XK	ENSG00000047597		0.498	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	808	0.00	0	C	NM_021083		37587124	37587124	+1	no_errors	ENST00000378616	ensembl	human	known	69_37n	missense	422	26.48	152	SNP	1.000	A
XK	7504	genome.wustl.edu	37	X	37587605	37587605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:37587605G>T	ENST00000378616.3	+	3	1428	c.1225G>T	c.(1225-1227)Gga>Tga	p.G409*	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	409					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGAGCCGATAGGAAAGGAAGA	0.468																																						dbGAP											0													87.0	83.0	85.0					X																	37587605		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1225G>T	X.37:g.37587605G>T	ENSP00000367879:p.Gly409*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TTN6|Q8IUK6|Q9UC77	Nonsense_Mutation	SNP	pfam_Transport_prot_XK	p.G409*	ENST00000378616.3	37	c.1225	CCDS14241.1	X	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509681	0.64522	.	.	ENSG00000047597	ENST00000378616	.	.	.	5.38	4.52	0.55395	.	0.873193	0.10337	N	0.686781	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-5.0975	11.2887	0.49237	0.0865:0.0:0.9135:0.0	.	.	.	.	X	409	.	ENSP00000367879:G409X	G	+	1	0	XK	37472544	0.950000	0.32346	0.002000	0.10522	0.004000	0.04260	5.143000	0.64826	1.034000	0.39945	0.600000	0.82982	GGA	XK	-	NULL	ENSG00000047597		0.468	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XK	HGNC	protein_coding	OTTHUMT00000080875.1	292	0.00	0	G	NM_021083		37587605	37587605	+1	no_errors	ENST00000378616	ensembl	human	known	69_37n	nonsense	181	10.40	21	SNP	0.086	T
XKR3	150165	genome.wustl.edu	37	22	17280897	17280897	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:17280897C>A	ENST00000331428.5	-	3	455	c.353G>T	c.(352-354)aGa>aTa	p.R118I		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGGTAATTTCTAATGGTGTG	0.358																																						dbGAP											0													99.0	88.0	91.0					22																	17280897		1841	4089	5930	-	-	-	SO:0001583	missense	0			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.353G>T	22.37:g.17280897C>A	ENSP00000331704:p.Arg118Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R118I	ENST00000331428.5	37	c.353	CCDS42975.1	22	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.454599	0.00173	.	.	ENSG00000172967	ENST00000331428	T	0.63096	-0.02	0.762	-1.52	0.08637	.	0.932846	0.08890	U	0.878771	T	0.23370	0.0565	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08827	-1.0703	10	0.20519	T	0.43	.	3.1574	0.06509	0.305:0.2661:0.4288:0.0	.	118	Q5GH77	XKR3_HUMAN	I	118	ENSP00000331704:R118I	ENSP00000331704:R118I	R	-	2	0	XKR3	15660897	0.054000	0.20591	0.000000	0.03702	0.007000	0.05969	-0.441000	0.06879	-1.417000	0.02017	-1.661000	0.00750	AGA	XKR3	-	pfam_Transport_prot_XK	ENSG00000172967		0.358	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR3	HGNC	protein_coding	OTTHUMT00000289789.1	397	0.00	0	C	NM_175878		17280897	17280897	-1	no_errors	ENST00000331428	ensembl	human	known	69_37n	missense	161	30.00	69	SNP	0.000	A
XKR4	114786	genome.wustl.edu	37	8	56436133	56436133	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:56436133G>A	ENST00000327381.6	+	3	1400	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	434						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGTGTTCGACATGGTGGT	0.443																																						dbGAP											0													224.0	207.0	213.0					8																	56436133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1300G>A	8.37:g.56436133G>A	ENSP00000328326:p.Asp434Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.D434N	ENST00000327381.6	37	c.1300	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605785	0.28623	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.62105	0.05	5.69	4.82	0.62117	.	0.043225	0.85682	N	0.000000	T	0.37812	0.1017	N	0.04724	-0.175	0.80722	D	1	D	0.56746	0.977	B	0.43123	0.409	T	0.46317	-0.9200	10	0.02654	T	1	-6.8851	14.2177	0.65805	0.0711:0.0:0.9289:0.0	.	434	Q5GH76	XKR4_HUMAN	N	434	ENSP00000328326:D434N	ENSP00000328326:D434N	D	+	1	0	XKR4	56598687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.412000	0.46977	0.655000	0.94253	GAC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.443	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	286	0.00	0	G	NM_052898		56436133	56436133	+1	no_errors	ENST00000327381	ensembl	human	known	69_37n	missense	207	22.39	60	SNP	1.000	A
XPO1	7514	genome.wustl.edu	37	2	61711215	61711215	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61711215C>A	ENST00000401558.2	-	21	3261	c.2534G>T	c.(2533-2535)aGa>aTa	p.R845I	RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.R845I|XPO1_ENST00000406957.1_Missense_Mutation_p.R845I	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	845					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AAAGTTCGTTCTATGTTCAGG	0.378			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													92.0	95.0	94.0					2																	61711215		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2534G>T	2.37:g.61711215C>A	ENSP00000384863:p.Arg845Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R845I	ENST00000401558.2	37	c.2534	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.421415	0.96111	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.73363	-0.74;-0.74;-0.74	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92184	0.5754	10	0.54805	T	0.06	-18.3093	20.0359	0.97557	0.0:1.0:0.0:0.0	.	492;845	B3KWD0;O14980	.;XPO1_HUMAN	I	845	ENSP00000384863:R845I;ENSP00000385942:R845I;ENSP00000385559:R845I	ENSP00000384863:R845I	R	-	2	0	XPO1	61564719	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.805000	0.96524	0.655000	0.94253	AGA	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold	ENSG00000082898		0.378	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	177	0.00	0	C	NM_003400		61711215	61711215	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	160	10.11	18	SNP	1.000	A
XPO1	7514	genome.wustl.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61715367C>T	ENST00000401558.2	-	19	2973	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_ENST00000404992.2_Missense_Mutation_p.R749Q|XPO1_ENST00000406957.1_Missense_Mutation_p.R749Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	749					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.R749Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	1	Substitution - Missense(1)	large_intestine(1)											145.0	142.0	143.0					2																	61715367		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2246G>A	2.37:g.61715367C>T	ENSP00000384863:p.Arg749Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R749Q	ENST00000401558.2	37	c.2246	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.761877	0.96906	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.46	5.46	0.80206	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.92970	3.365	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.65874	0.925;0.939	D	0.86494	0.1799	9	0.40728	T	0.16	-11.0536	19.6691	0.95903	0.0:1.0:0.0:0.0	.	396;749	B3KWD0;O14980	.;XPO1_HUMAN	Q	749	.	ENSP00000384863:R749Q	R	-	2	0	XPO1	61568871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.767000	0.85331	2.721000	0.93114	0.591000	0.81541	CGA	XPO1	-	pfam_CRM1_C_dom,superfamily_ARM-type_fold	ENSG00000082898		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	238	0.00	0	C	NM_003400		61715367	61715367	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	164	27.43	62	SNP	1.000	T
XPO1	7514	genome.wustl.edu	37	2	61719731	61719731	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:61719731C>T	ENST00000401558.2	-	14	2264	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	XPO1_ENST00000404992.2_Missense_Mutation_p.E513K|XPO1_ENST00000406957.1_Missense_Mutation_p.E513K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	513	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATCGTTTTTCGTCCTCTTCA	0.333			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													105.0	94.0	98.0					2																	61719731		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1537G>A	2.37:g.61719731C>T	ENSP00000384863:p.Glu513Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E513K	ENST00000401558.2	37	c.1537	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.812274	0.96975	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.67698	-0.28;-0.28;-0.28	5.99	5.99	0.97316	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87958	0.6309	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90099	0.4183	10	0.87932	D	0	-19.5227	20.4777	0.99188	0.0:1.0:0.0:0.0	.	160;513	B3KWD0;O14980	.;XPO1_HUMAN	K	513	ENSP00000384863:E513K;ENSP00000385942:E513K;ENSP00000385559:E513K	ENSP00000384863:E513K	E	-	1	0	XPO1	61573235	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.764000	0.85297	2.840000	0.97914	0.655000	0.94253	GAA	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.333	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	99	0.00	0	C	NM_003400		61719731	61719731	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	113	14.39	19	SNP	1.000	T
XPO7	23039	genome.wustl.edu	37	8	21827075	21827075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:21827075C>T	ENST00000252512.9	+	3	347	c.247C>T	c.(247-249)Cga>Tga	p.R83*	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Nonsense_Mutation_p.R83*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.R84*	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	83	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATTGGAACAGCGAATAGATAT	0.398																																						dbGAP											0													94.0	89.0	90.0					8																	21827075		1857	4102	5959	-	-	-	SO:0001587	stop_gained	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.247C>T	8.37:g.21827075C>T	ENSP00000252512:p.Arg83*	Somatic		WXS	Illumina GAIIx	Phase_IV	O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R83*	ENST00000252512.9	37	c.247	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.722657	0.96847	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0723	14.2513	0.66021	0.1492:0.8508:0.0:0.0	.	.	.	.	X	83;83;84	.	ENSP00000252512:R83X	R	+	1	2	XPO7	21883021	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.259000	0.58828	2.753000	0.94483	0.591000	0.81541	CGA	XPO7	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	ENSG00000130227		0.398	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	311	0.00	0	C	NM_015024		21827075	21827075	+1	no_errors	ENST00000434536	ensembl	human	known	69_37n	nonsense	211	26.48	76	SNP	1.000	T
XPR1	9213	genome.wustl.edu	37	1	180805727	180805727	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:180805727G>A	ENST00000367590.4	+	11	1574	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	XPR1_ENST00000367589.3_Intron	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	459	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GCTTGGCTTCGCTTCATCCAG	0.428																																						dbGAP											0													132.0	124.0	127.0					1																	180805727		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1376G>A	1.37:g.180805727G>A	ENSP00000356562:p.Arg459His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.R459H	ENST00000367590.4	37	c.1376	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.100495	0.94245	.	.	ENSG00000143324	ENST00000367590	T	0.72725	-0.68	5.11	5.11	0.69529	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89529	0.6741	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92953	0.6382	10	0.87932	D	0	-6.6393	18.172	0.89749	0.0:0.0:1.0:0.0	.	459	Q9UBH6	XPR1_HUMAN	H	459	ENSP00000356562:R459H	ENSP00000356562:R459H	R	+	2	0	XPR1	179072350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.699000	0.98703	2.386000	0.81285	0.563000	0.77884	CGC	XPR1	-	pfam_EXS_C	ENSG00000143324		0.428	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	222	0.00	0	G	NM_004736		180805727	180805727	+1	no_errors	ENST00000367590	ensembl	human	known	69_37n	missense	137	40.43	93	SNP	1.000	A
XRCC4	7518	genome.wustl.edu	37	5	82406995	82406995	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:82406995C>A	ENST00000511817.1	+	3	368	c.288C>A	c.(286-288)ttC>ttA	p.F96L	XRCC4_ENST00000396027.4_Missense_Mutation_p.F96L|XRCC4_ENST00000282268.3_Missense_Mutation_p.F96L|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.F96L			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	96					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GTTATTTCTTCTTTGAGAAAA	0.308								Non-homologous end-joining																														dbGAP											0													72.0	75.0	74.0					5																	82406995		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.288C>A	5.37:g.82406995C>A	ENSP00000421491:p.Phe96Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N	p.F96L	ENST00000511817.1	37	c.288	CCDS4059.1	5	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315557	0.23908	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.4	2.66	0.31614	DNA double-strand break repair and VJ recombination XRCC4, N-terminal (2);	0.272597	0.35772	N	0.002995	T	0.04272	0.0118	N	0.08118	0	0.24707	N	0.993221	B;B;B	0.31100	0.099;0.23;0.308	B;B;B	0.23716	0.019;0.048;0.042	T	0.35375	-0.9791	10	0.44086	T	0.13	-19.1733	4.711	0.12872	0.1401:0.5629:0.0:0.2969	.	96;96;96	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	L	96	ENSP00000282268:F96L;ENSP00000342011:F96L;ENSP00000379344:F96L;ENSP00000421491:F96L	ENSP00000282268:F96L	F	+	3	2	XRCC4	82442751	0.967000	0.33354	0.992000	0.48379	0.317000	0.28152	-0.057000	0.11768	0.263000	0.21812	0.467000	0.42956	TTC	XRCC4	-	pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N	ENSG00000152422		0.308	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	XRCC4	HGNC	protein_coding	OTTHUMT00000369624.1	314	0.00	0	C	NM_022550		82406995	82406995	+1	no_errors	ENST00000338635	ensembl	human	known	69_37n	missense	206	13.45	32	SNP	1.000	A
XRCC4	7518	genome.wustl.edu	37	5	82499476	82499476	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:82499476T>A	ENST00000511817.1	+	5	668	c.588T>A	c.(586-588)aaT>aaA	p.N196K	XRCC4_ENST00000396027.4_Missense_Mutation_p.N196K|XRCC4_ENST00000282268.3_Missense_Mutation_p.N196K|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.N196K			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	196	Interacts with LIG4.				cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		GTTTGCATAATAAATTATTAA	0.333								Non-homologous end-joining																														dbGAP											0													65.0	72.0	69.0					5																	82499476		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.588T>A	5.37:g.82499476T>A	ENSP00000421491:p.Asn196Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N	p.N196K	ENST00000511817.1	37	c.588	CCDS4059.1	5	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086162	0.36855	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.79	-2.97	0.05530	.	0.771801	0.09414	U	0.805312	T	0.15435	0.0372	N	0.04508	-0.205	0.23739	N	0.996972	P;D;D	0.59357	0.956;0.964;0.985	P;D;D	0.66847	0.671;0.947;0.912	T	0.15037	-1.0451	10	0.07482	T	0.82	.	0.8262	0.01121	0.2038:0.219:0.3292:0.2481	.	196;196;196	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	K	196	ENSP00000282268:N196K;ENSP00000342011:N196K;ENSP00000379344:N196K;ENSP00000421491:N196K	ENSP00000282268:N196K	N	+	3	2	XRCC4	82535232	0.758000	0.28405	0.980000	0.43619	0.579000	0.36224	-0.518000	0.06267	-0.379000	0.07906	-0.531000	0.04308	AAT	XRCC4	-	pfam_DNA_ds_break_repair_XRCC4	ENSG00000152422		0.333	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	XRCC4	HGNC	protein_coding	OTTHUMT00000369624.1	188	0.00	0	T	NM_022550		82499476	82499476	+1	no_errors	ENST00000338635	ensembl	human	known	69_37n	missense	142	25.65	49	SNP	0.986	A
XRCC5	7520	genome.wustl.edu	37	2	216986843	216986843	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:216986843C>T	ENST00000392133.3	+	8	1011	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	XRCC5_ENST00000392132.2_Missense_Mutation_p.R184C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	184					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGGCCCCTTTCGCTTAGGTGG	0.433								Non-homologous end-joining																														dbGAP											0													100.0	89.0	93.0					2																	216986843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.550C>T	2.37:g.216986843C>T	ENSP00000375978:p.Arg184Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_DNA_helicase_ATP-dep_Ku,pfam_Ku_C,superfamily_SPOC-like,superfamily_Ku_PK_bind,smart_VWF_A,smart_DNA_helicase_ATP-dep_Ku	p.R184C	ENST00000392133.3	37	c.550	CCDS2402.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.471995	0.43942	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.32515	1.45;1.45	5.09	-10.2	0.00374	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	2.651550	0.00841	N	0.001745	T	0.25791	0.0628	L	0.40543	1.245	0.09310	N	1	D	0.53745	0.962	P	0.50570	0.644	T	0.55101	-0.8193	10	0.56958	D	0.05	.	0.7979	0.01069	0.335:0.1249:0.2784:0.2617	.	184	P13010	XRCC5_HUMAN	C	184	ENSP00000375978:R184C;ENSP00000375977:R184C	ENSP00000375977:R184C	R	+	1	0	XRCC5	216695088	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.764000	0.01800	-3.134000	0.00235	-0.781000	0.03364	CGC	XRCC5	-	pfam_Ku_N,smart_VWF_A	ENSG00000079246		0.433	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3	177	0.56	1	C	NM_021141		216986843	216986843	+1	no_errors	ENST00000392132	ensembl	human	known	69_37n	missense	141	12.96	21	SNP	0.000	T
XRN1	54464	genome.wustl.edu	37	3	142103457	142103457	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142103457G>A	ENST00000264951.4	-	21	2527	c.2410C>T	c.(2410-2412)Cgt>Tgt	p.R804C	XRN1_ENST00000392981.2_Missense_Mutation_p.R804C	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	804					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGATATTTACGACCTGTGAGT	0.308																																						dbGAP											0													152.0	152.0	152.0					3																	142103457		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2410C>T	3.37:g.142103457G>A	ENSP00000264951:p.Arg804Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.R804C	ENST00000264951.4	37	c.2410	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997529	0.74818	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.65364	-0.15;-0.15	5.3	5.3	0.74995	.	0.577524	0.19696	N	0.108160	T	0.67163	0.2864	L	0.56769	1.78	0.80722	D	1	D;D;D	0.63046	0.983;0.992;0.986	P;P;P	0.51229	0.462;0.663;0.462	T	0.66324	-0.5952	10	0.37606	T	0.19	-7.2086	14.7614	0.69610	0.0:0.0:0.8464:0.1536	.	665;804;804	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	C	804	ENSP00000264951:R804C;ENSP00000376707:R804C	ENSP00000264951:R804C	R	-	1	0	XRN1	143586147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.625000	0.61262	2.471000	0.83476	0.650000	0.86243	CGT	XRN1	-	pirsf_5_3_exoribonuclease_1	ENSG00000114127		0.308	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	362	0.27	1	G	NM_019001		142103457	142103457	-1	no_errors	ENST00000264951	ensembl	human	known	69_37n	missense	254	10.21	29	SNP	0.999	A
XRN1	54464	genome.wustl.edu	37	3	142142427	142142427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:142142427G>A	ENST00000264951.4	-	6	802	c.685C>T	c.(685-687)Cga>Tga	p.R229*	XRN1_ENST00000463916.1_Nonsense_Mutation_p.R229*|XRN1_ENST00000544157.1_Nonsense_Mutation_p.R19*|XRN1_ENST00000392981.2_Nonsense_Mutation_p.R229*	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	229					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CCACCAAATCGAACTTCTTCT	0.303																																						dbGAP											0													115.0	112.0	113.0					3																	142142427		2200	4298	6498	-	-	-	SO:0001587	stop_gained	0			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.685C>T	3.37:g.142142427G>A	ENSP00000264951:p.Arg229*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Nonsense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.R229*	ENST00000264951.4	37	c.685	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.150075	0.98096	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157;ENST00000477237	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-10.9312	15.0032	0.71489	0.0:0.0:0.857:0.143	.	.	.	.	X	229;229;229;19;90	.	ENSP00000264951:R229X	R	-	1	2	XRN1	143625117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.155000	0.71833	2.609000	0.88269	0.460000	0.39030	CGA	XRN1	-	pirsf_5_3_exoribonuclease_1	ENSG00000114127		0.303	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	259	0.00	0	G	NM_019001		142142427	142142427	-1	no_errors	ENST00000264951	ensembl	human	known	69_37n	nonsense	212	20.90	56	SNP	1.000	A
YAF2	10138	genome.wustl.edu	37	12	42555485	42555485	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:42555485T>G	ENST00000534854.2	-	3	302	c.235A>C	c.(235-237)Aaa>Caa	p.K79Q	YAF2_ENST00000380788.3_Missense_Mutation_p.K70Q|YAF2_ENST00000442791.3_Missense_Mutation_p.K103Q|YAF2_ENST00000380790.4_Missense_Mutation_p.K37Q|YAF2_ENST00000327791.4_Missense_Mutation_p.K55Q	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	79					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		actttatcttttttctctttc	0.368																																						dbGAP											0													89.0	88.0	88.0					12																	42555485		2203	4300	6503	-	-	-	SO:0001583	missense	0			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.235A>C	12.37:g.42555485T>G	ENSP00000439256:p.Lys79Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.K103Q	ENST00000534854.2	37	c.307	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946076	0.73672	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.73	4.59	0.56863	.	0.085378	0.85682	D	0.000000	T	0.54598	0.1868	L	0.48642	1.525	0.80722	D	1	P;P;P;P	0.45531	0.705;0.78;0.86;0.58	B;B;P;B	0.47075	0.439;0.335;0.536;0.254	T	0.48103	-0.9064	9	0.24483	T	0.36	.	11.1485	0.48444	0.0:0.0725:0.0:0.9275	.	37;70;55;79	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	Q	55;103;79;37;70	.	ENSP00000328004:K55Q	K	-	1	0	YAF2	40841752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.642000	0.83385	1.000000	0.39049	0.528000	0.53228	AAA	YAF2	-	NULL	ENSG00000015153		0.368	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	454	0.00	0	T			42555485	42555485	-1	no_errors	ENST00000442791	ensembl	human	known	69_37n	missense	292	14.37	49	SNP	1.000	G
YEATS4	8089	genome.wustl.edu	37	12	69759619	69759619	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:69759619C>T	ENST00000247843.2	+	4	558	c.288C>T	c.(286-288)ttC>ttT	p.F96F	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	96	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)	p.F96F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GGGGTGAATTCGAAATAATCA	0.284																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											72.0	76.0	74.0					12																	69759619		2203	4292	6495	-	-	-	SO:0001819	synonymous_variant	0			AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.288C>T	12.37:g.69759619C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQD0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.F96	ENST00000247843.2	37	c.288	CCDS8990.1	12																																																																																			YEATS4	-	pfam_YEATS,pfscan_YEATS	ENSG00000127337		0.284	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS4	HGNC	protein_coding	OTTHUMT00000403663.1	206	0.00	0	C	NM_006530		69759619	69759619	+1	no_errors	ENST00000247843	ensembl	human	known	69_37n	silent	139	16.27	27	SNP	1.000	T
YIF1A	10897	genome.wustl.edu	37	11	66053018	66053018	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:66053018G>A	ENST00000376901.4	-	6	670				YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CTGCGCCAAAGCAGGGGTGGC	0.652																																						dbGAP											0													36.0	34.0	35.0					11																	66053018		2200	4295	6495	-	-	-	SO:0001627	intron_variant	0			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.486-11C>T	11.37:g.66053018G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	pfam_Hrf1	p.L171F	ENST00000376901.4	37	c.511	CCDS8132.1	11	.	.	.	.	.	.	.	.	.	.	G	5.317	0.243765	0.10077	.	.	ENSG00000174851	ENST00000431556	T	0.46819	0.86	3.27	2.35	0.29111	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.24941	-1.0146	6	0.33940	T	0.23	.	6.5191	0.22264	0.1401:0.0:0.8599:0.0	.	.	.	.	F	171	ENSP00000401953:L171F	ENSP00000401953:L171F	L	-	1	0	YIF1A	65809594	0.000000	0.05858	0.003000	0.11579	0.039000	0.13416	0.090000	0.15025	0.733000	0.32492	0.462000	0.41574	CTT	YIF1A	-	pfam_Hrf1	ENSG00000174851		0.652	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3	10	0.00	0	G	NM_020470		66053018	66053018	-1	no_stop_codon	ENST00000431556	ensembl	human	novel	69_37n	missense	6	57.14	8	SNP	0.004	A
YIPF1	54432	genome.wustl.edu	37	1	54348837	54348837	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:54348837T>C	ENST00000072644.1	-	4	480	c.144A>G	c.(142-144)ggA>ggG	p.G48G	YIPF1_ENST00000539954.1_Silent_p.G73G|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	48						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTCTTCTCTTCCTGAGCCTC	0.418																																						dbGAP											0													171.0	164.0	166.0					1																	54348837		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.144A>G	1.37:g.54348837T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCM7|D3DQ40|Q9NWJ1	Silent	SNP	pfam_Yip1,superfamily_Ribonuclease/ribotoxin	p.G73	ENST00000072644.1	37	c.219	CCDS584.1	1																																																																																			YIPF1	-	superfamily_Ribonuclease/ribotoxin	ENSG00000058799		0.418	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF1	HGNC	protein_coding	OTTHUMT00000022103.5	313	0.32	1	T	NM_018982		54348837	54348837	-1	no_errors	ENST00000539954	ensembl	human	known	69_37n	silent	157	23.04	47	SNP	0.986	C
YME1L1	10730	genome.wustl.edu	37	10	27409411	27409411	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:27409411C>T	ENST00000326799.3	-	14	1683	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	YME1L1_ENST00000376016.3_Missense_Mutation_p.R455Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.R422Q	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	512					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AATTTCTGTTCGACCTTTTAC	0.323																																						dbGAP											0													98.0	94.0	95.0					10																	27409411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1535G>A	10.37:g.27409411C>T	ENSP00000318480:p.Arg512Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH	p.R512Q	ENST00000326799.3	37	c.1535	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921589	0.73213	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.81330	-1.48;-1.48;-1.48	5.72	4.78	0.61160	Peptidase M41, FtsH (2);	0.054448	0.85682	N	0.000000	D	0.94647	0.8274	H	0.99874	4.875	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.978;1.0;1.0	D	0.96638	0.9472	10	0.87932	D	0	-6.3247	14.0611	0.64800	0.0:0.9235:0.0:0.0765	.	422;455;512	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	Q	455;512;512;422;258	ENSP00000365184:R455Q;ENSP00000318480:R512Q;ENSP00000365139:R422Q	ENSP00000318480:R512Q	R	-	2	0	YME1L1	27449417	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	7.734000	0.84928	1.469000	0.48083	-0.345000	0.07892	CGA	YME1L1	-	tigrfam_FtsH	ENSG00000136758		0.323	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	HGNC	protein_coding	OTTHUMT00000047306.1	307	0.00	0	C	NM_139312		27409411	27409411	-1	no_errors	ENST00000326799	ensembl	human	known	69_37n	missense	246	12.46	35	SNP	1.000	T
MAP3K19	80122	genome.wustl.edu	37	2	135745745	135745745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:135745745C>A	ENST00000375845.3	-	7	727	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.E250*|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.E120*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	233							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTTTCTTTTTCTTTTGGAAAC	0.463																																						dbGAP											0													106.0	119.0	115.0					2																	135745745		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.697G>T	2.37:g.135745745C>A	ENSP00000365005:p.Glu233*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E233*	ENST00000375845.3	37	c.697	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400348	0.25291	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	.	.	.	5.09	2.01	0.26516	.	0.517604	0.16216	N	0.224239	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.7008	0.12827	0.1317:0.4749:0.3055:0.0878	.	.	.	.	X	233;120;250	.	ENSP00000351140:E120X	E	-	1	0	YSK4	135462215	0.001000	0.12720	0.045000	0.18777	0.036000	0.12997	0.720000	0.25896	0.690000	0.31570	-0.188000	0.12872	GAA	YSK4	-	NULL	ENSG00000176601		0.463	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YSK4	HGNC	protein_coding	OTTHUMT00000158244.1	94	0.00	0	C	NM_025052		135745745	135745745	-1	no_errors	ENST00000375845	ensembl	human	known	69_37n	nonsense	67	15.19	12	SNP	0.001	A
YTHDF3	253943	genome.wustl.edu	37	8	64122335	64122335	+	3'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:64122335G>T	ENST00000517371.1	+	0	454				YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATAAGTCAAAGAAGACGTATT	0.363																																						dbGAP											0													168.0	149.0	155.0					8																	64122335		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*71G>T	8.37:g.64122335G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-	ENSG00000185728		0.363	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	389	0.00	0	G	NM_152758		64122335	64122335	+1	no_errors	ENST00000339066	ensembl	human	known	69_37n	rna	283	13.46	44	SNP	1.000	T
YWHAB	7529	genome.wustl.edu	37	20	43533689	43533689	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:43533689C>T	ENST00000372839.3	+	5	779	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.R169C	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	169					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				ACACCCAATTCGTCTTGGTCT	0.423																																						dbGAP											0													85.0	83.0	83.0					20																	43533689		2203	4299	6502	-	-	-	SO:0001583	missense	0			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.505C>T	20.37:g.43533689C>T	ENSP00000361930:p.Arg169Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9K2|E1P616	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.R169C	ENST00000372839.3	37	c.505	CCDS13339.1	20	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334262	0.81801	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.54071	0.59;0.59	5.87	5.87	0.94306	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.83520	0.0085	10	0.87932	D	0	-6.1505	20.5827	0.99408	0.0:1.0:0.0:0.0	.	169	P31946	1433B_HUMAN	C	169	ENSP00000300161:R169C;ENSP00000361930:R169C	ENSP00000300161:R169C	R	+	1	0	YWHAB	42967103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.312000	0.43726	2.941000	0.99782	0.655000	0.94253	CGT	YWHAB	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000166913		0.423	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	HGNC	protein_coding	OTTHUMT00000079386.3	129	0.00	0	C	NM_003404		43533689	43533689	+1	no_errors	ENST00000353703	ensembl	human	known	69_37n	missense	107	23.02	32	SNP	1.000	T
YWHAZ	7534	genome.wustl.edu	37	8	101936232	101936232	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:101936232G>A	ENST00000395957.2	-	6	970	c.629C>T	c.(628-630)tCa>tTa	p.S210L	YWHAZ_ENST00000457309.1_Missense_Mutation_p.S210L|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000395958.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S135L|YWHAZ_ENST00000419477.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395951.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000395948.2_Missense_Mutation_p.S133L			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	210					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GTCTTTGTATGACTCTTCACT	0.343																																						dbGAP											0													153.0	149.0	150.0					8																	101936232		2203	4297	6500	-	-	-	SO:0001583	missense	0			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.629C>T	8.37:g.101936232G>A	ENSP00000379287:p.Ser210Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.S210L	ENST00000395957.2	37	c.629	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162273	0.78226	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.34	5.34	0.76211	14-3-3 domain (4);	0.000000	0.64402	D	0.000019	T	0.69806	0.3152	H	0.94582	3.555	0.80722	D	1	B;B	0.34329	0.449;0.449	B;B	0.42462	0.388;0.388	T	0.76971	-0.2761	10	0.87932	D	0	.	19.42	0.94716	0.0:0.0:1.0:0.0	.	210;210	D0PNI1;P63104	.;1433Z_HUMAN	L	210;210;210;210;210;135;90;133;90;210;133;210;210;218	ENSP00000379287:S210L;ENSP00000398599:S210L;ENSP00000379288:S210L;ENSP00000379286:S210L;ENSP00000309503:S210L;ENSP00000430072:S135L;ENSP00000429623:S90L;ENSP00000428775:S90L;ENSP00000379283:S210L;ENSP00000379278:S133L;ENSP00000379281:S210L;ENSP00000395114:S210L;ENSP00000430058:S218L	ENSP00000309503:S210L	S	-	2	0	YWHAZ	102005408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.673000	0.90976	0.650000	0.86243	TCA	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000164924		0.343	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	148	0.00	0	G	NM_145690		101936232	101936232	-1	no_errors	ENST00000353245	ensembl	human	known	69_37n	missense	146	13.61	23	SNP	1.000	A
ZAN	7455	genome.wustl.edu	37	7	100365543	100365543	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100365543G>A	ENST00000348028.3	+	0	5115				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCTCTACACGAACTTTGGGC	0.602																																						dbGAP											0													61.0	66.0	64.0					7																	100365543		2084	4204	6288	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365543G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.T1650	ENST00000348028.3	37	c.4950		7																																																																																			ZAN	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000146839		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	98	0.00	0	G	NM_003386		100365543	100365543	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	silent	81	28.95	33	SNP	0.451	A
ZAP70	7535	genome.wustl.edu	37	2	98351029	98351029	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:98351029G>A	ENST00000264972.5	+	9	1151	c.936G>A	c.(934-936)acG>acA	p.T312T	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.T5T|ZAP70_ENST00000442208.1_Silent_p.T186T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	312	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCATGGACACGAGCGTGTATG	0.592																																						dbGAP											0													106.0	93.0	97.0					2																	98351029		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.936G>A	2.37:g.98351029G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.T312	ENST00000264972.5	37	c.936	CCDS33254.1	2																																																																																			ZAP70	-	superfamily_Kinase-like_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70	ENSG00000115085		0.592	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	108	0.00	0	G			98351029	98351029	+1	no_errors	ENST00000264972	ensembl	human	known	69_37n	silent	45	11.76	6	SNP	0.000	A
ZBED5	58486	genome.wustl.edu	37	11	10875148	10875148	+	Missense_Mutation	SNP	G	G	A	rs550859125		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:10875148G>A	ENST00000432999.2	-	3	1843	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C	ZBED5_ENST00000413761.2_Missense_Mutation_p.R449C|ZBED5_ENST00000525350.1_Intron	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	449							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						aaaagttcacgacgaagttca	0.388													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19010	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	52.0	54.0					11																	10875148		692	1591	2283	-	-	-	SO:0001583	missense	0			AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.1345C>T	11.37:g.10875148G>A	ENSP00000398106:p.Arg449Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd	p.R449C	ENST00000432999.2	37	c.1345		11	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732389	0.48939	.	.	ENSG00000236287	ENST00000432999;ENST00000413761	T;T	0.24538	1.85;1.85	4.1	4.1	0.47936	Ribonuclease H-like (1);	.	.	.	.	T	0.22044	0.0531	L	0.29908	0.895	0.40544	D	0.981055	D	0.63046	0.992	P	0.45195	0.473	T	0.02676	-1.1125	9	0.62326	D	0.03	.	12.1069	0.53818	0.0:0.0:1.0:0.0	.	449	Q49AG3	ZBED5_HUMAN	C	449	ENSP00000398106:R449C;ENSP00000415939:R449C	ENSP00000415939:R449C	R	-	1	0	ZBED5	10831724	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.924000	0.40065	2.570000	0.86706	0.650000	0.86243	CGT	ZBED5	-	superfamily_RNaseH-like_dom	ENSG00000236287		0.388	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ZBED5	HGNC	protein_coding	OTTHUMT00000317691.1	109	0.00	0	G	NM_021211		10875148	10875148	-1	no_errors	ENST00000413761	ensembl	human	putative	69_37n	missense	66	30.53	29	SNP	1.000	A
ZBP1	81030	genome.wustl.edu	37	20	56179798	56179798	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:56179798C>A	ENST00000371173.3	-	8	1298	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	ZBP1_ENST00000340462.4_Missense_Mutation_p.R351I|ZBP1_ENST00000395822.3_Missense_Mutation_p.R299I	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	374					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AAAGTGACTTCTGGATTGTGT	0.557																																						dbGAP											0													175.0	134.0	148.0					20																	56179798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.1121G>T	20.37:g.56179798C>A	ENSP00000360215:p.Arg374Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.R374I	ENST00000371173.3	37	c.1121	CCDS13461.1	20	.	.	.	.	.	.	.	.	.	.	C	9.194	1.026736	0.19512	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462	T;T;T	0.12672	3.03;2.66;3.02	2.5	0.31	0.15825	.	.	.	.	.	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	D;D;D	0.54772	0.968;0.968;0.968	P;P;P	0.50970	0.578;0.655;0.578	T	0.18650	-1.0330	9	0.56958	D	0.05	.	3.1973	0.06637	0.0:0.5354:0.2786:0.1859	.	374;299;374	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	I	374;299;351	ENSP00000360215:R374I;ENSP00000379167:R299I;ENSP00000344954:R351I	ENSP00000344954:R351I	R	-	2	0	ZBP1	55613204	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.467000	0.06664	0.089000	0.17243	0.514000	0.50259	AGA	ZBP1	-	NULL	ENSG00000124256		0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	233	0.00	0	C	NM_030776		56179798	56179798	-1	no_errors	ENST00000371173	ensembl	human	known	69_37n	missense	107	29.87	46	SNP	0.000	A
ZBTB10	65986	genome.wustl.edu	37	8	81412159	81412159	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:81412159A>C	ENST00000430430.1	+	3	2182	c.1403A>C	c.(1402-1404)aAa>aCa	p.K468T	ZBTB10_ENST00000379091.4_Missense_Mutation_p.K176T|ZBTB10_ENST00000426744.2_Missense_Mutation_p.K468T|ZBTB10_ENST00000455036.3_Missense_Mutation_p.K468T	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ATAAGCATTAAATCAGAAGCT	0.358																																						dbGAP											0													77.0	77.0	77.0					8																	81412159		1804	4076	5880	-	-	-	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1403A>C	8.37:g.81412159A>C	ENSP00000387462:p.Lys468Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K468T	ENST00000430430.1	37	c.1403	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827235	0.71143	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.12361	2.7;2.7;2.7;2.69	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	M	0.72118	2.19	0.58432	D	0.999996	D;D;D;D	0.89917	0.979;0.999;1.0;1.0	P;D;D;D	0.91635	0.904;0.994;0.997;0.999	T	0.04737	-1.0930	10	0.40728	T	0.16	.	16.1652	0.81750	1.0:0.0:0.0:0.0	.	324;468;468;176	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	T	176;468;468;468;296	ENSP00000368384:K176T;ENSP00000387462:K468T;ENSP00000412036:K468T;ENSP00000416134:K468T	ENSP00000368384:K176T	K	+	2	0	ZBTB10	81574714	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	2.230000	0.72887	0.528000	0.53228	AAA	ZBTB10	-	NULL	ENSG00000205189		0.358	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	148	0.00	0	A	NM_023929		81412159	81412159	+1	no_errors	ENST00000426744	ensembl	human	known	69_37n	missense	113	11.72	15	SNP	1.000	C
ZBTB11	27107	genome.wustl.edu	37	3	101370392	101370392	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:101370392C>T	ENST00000312938.4	-	11	3360	c.2780G>A	c.(2779-2781)cGa>cAa	p.R927Q		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACGGAGTGTTCGAGCATCTAT	0.448																																						dbGAP											0													120.0	118.0	119.0					3																	101370392		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2780G>A	3.37:g.101370392C>T	ENSP00000326200:p.Arg927Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R927Q	ENST00000312938.4	37	c.2780	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010618	0.93346	.	.	ENSG00000066422	ENST00000312938	T	0.35789	1.29	5.81	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	P	0.50136	0.632	T	0.21655	-1.0239	10	0.52906	T	0.07	-8.6101	16.6963	0.85336	0.0:0.8703:0.1296:0.0	.	927	O95625	ZBT11_HUMAN	Q	927	ENSP00000326200:R927Q	ENSP00000326200:R927Q	R	-	2	0	ZBTB11	102853082	1.000000	0.71417	0.601000	0.28877	0.995000	0.86356	7.487000	0.81328	1.423000	0.47198	0.555000	0.69702	CGA	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066422		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	97	0.00	0	C	NM_014415		101370392	101370392	-1	no_errors	ENST00000312938	ensembl	human	known	69_37n	missense	97	11.01	12	SNP	0.971	T
ZBTB24	9841	genome.wustl.edu	37	6	109788926	109788926	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:109788926A>C	ENST00000230122.3	-	6	1467	c.1300T>G	c.(1300-1302)Ttt>Gtt	p.F434V	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	434					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TCACAAGTAAATGGCTTCTCA	0.308																																						dbGAP											0													82.0	81.0	81.0					6																	109788926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1300T>G	6.37:g.109788926A>C	ENSP00000230122:p.Phe434Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F434V	ENST00000230122.3	37	c.1300	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094615	0.76870	.	.	ENSG00000112365	ENST00000230122	T	0.22945	1.93	5.71	5.71	0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.73319	2.225	0.50171	D	0.999858	D	0.89917	1.0	D	0.83275	0.996	T	0.46105	-0.9215	10	0.87932	D	0	-21.13	15.9836	0.80130	1.0:0.0:0.0:0.0	.	434	O43167	ZBT24_HUMAN	V	434	ENSP00000230122:F434V	ENSP00000230122:F434V	F	-	1	0	ZBTB24	109895619	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.185000	0.69588	0.528000	0.53228	TTT	ZBTB24	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.308	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	336	0.00	0	A	NM_014797		109788926	109788926	-1	no_errors	ENST00000230122	ensembl	human	known	69_37n	missense	290	14.45	49	SNP	1.000	C
ZBTB3	79842	genome.wustl.edu	37	11	62521520	62521520	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:62521520G>T	ENST00000394807.3	-	1	140	c.15C>A	c.(13-15)ttC>ttA	p.F5L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CCCACTTCGAGAACTCCCTAA	0.592																																						dbGAP											0													92.0	84.0	87.0					11																	62521520		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.15C>A	11.37:g.62521520G>T	ENSP00000378286:p.Phe5Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F5L	ENST00000394807.3	37	c.15	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	G	4.913	0.169609	0.09339	.	.	ENSG00000185670	ENST00000394807	T	0.12879	2.64	5.65	2.71	0.32032	.	2.394890	0.01749	N	0.029787	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34428	-0.9829	10	0.36615	T	0.2	.	9.6528	0.39908	0.1434:0.1202:0.7364:0.0	.	5	Q9H5J0	ZBTB3_HUMAN	L	5	ENSP00000378286:F5L	ENSP00000378286:F5L	F	-	3	2	ZBTB3	62278096	0.009000	0.17119	0.003000	0.11579	0.004000	0.04260	0.619000	0.24388	0.165000	0.19558	-0.797000	0.03246	TTC	ZBTB3	-	NULL	ENSG00000185670		0.592	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1	116	0.00	0	G	NM_024784		62521520	62521520	-1	no_errors	ENST00000394807	ensembl	human	known	69_37n	missense	127	15.89	24	SNP	0.011	T
ZBTB33	10009	genome.wustl.edu	37	X	119388943	119388943	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:119388943C>A	ENST00000326624.2	+	2	1901	c.1673C>A	c.(1672-1674)tCt>tAt	p.S558Y	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S558Y	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	558	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGGCAAATCTTTCATCAAC	0.413																																						dbGAP											0													140.0	125.0	130.0					X																	119388943		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1673C>A	X.37:g.119388943C>A	ENSP00000314153:p.Ser558Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S558Y	ENST00000326624.2	37	c.1673	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693669	0.48202	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.18810	2.19;2.19	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.161068	0.56097	D	0.000029	T	0.51058	0.1652	M	0.84773	2.715	0.45035	D	0.998058	D	0.67145	0.996	D	0.65573	0.936	T	0.58549	-0.7617	10	0.72032	D	0.01	-4.5684	17.3434	0.87303	0.0:1.0:0.0:0.0	.	558	Q86T24	KAISO_HUMAN	Y	558	ENSP00000314153:S558Y;ENSP00000450969:S558Y	ENSP00000314153:S558Y	S	+	2	0	ZBTB33;AC002086.1	119272971	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	1.831000	0.39141	2.308000	0.77769	0.513000	0.50165	TCT	ZBTB33	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177485		0.413	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	157	0.00	0	C	NM_006777		119388943	119388943	+1	no_errors	ENST00000326624	ensembl	human	known	69_37n	missense	119	25.62	41	SNP	1.000	A
ZBTB49	166793	genome.wustl.edu	37	4	4317658	4317658	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:4317658C>T	ENST00000337872.4	+	7	1703	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_Missense_Mutation_p.R11W	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GCACAGAATTCGGCACACGGG	0.507																																						dbGAP											0													76.0	82.0	80.0					4																	4317658		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1582C>T	4.37:g.4317658C>T	ENSP00000338807:p.Arg528Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R528W	ENST00000337872.4	37	c.1582	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118977	0.77323	.	.	ENSG00000168826	ENST00000337872;ENST00000538529	T;T	0.18502	2.21;2.21	5.34	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.36220	0.0959	L	0.58669	1.825	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.06215	-1.0839	10	0.72032	D	0.01	.	12.7232	0.57154	0.2514:0.7486:0.0:0.0	.	528	Q6ZSB9	ZBT49_HUMAN	W	528;11	ENSP00000338807:R528W;ENSP00000445653:R11W	ENSP00000338807:R528W	R	+	1	2	ZBTB49	4368559	0.699000	0.27786	0.951000	0.38953	0.982000	0.71751	1.352000	0.34033	2.514000	0.84764	0.462000	0.41574	CGG	ZBTB49	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168826		0.507	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	253	0.00	0	C	NM_145291		4317658	4317658	+1	no_errors	ENST00000337872	ensembl	human	known	69_37n	missense	114	17.99	25	SNP	0.949	T
ZBTB5	9925	genome.wustl.edu	37	9	37441802	37441802	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:37441802C>A	ENST00000307750.4	-	2	935	c.747G>T	c.(745-747)atG>atT	p.M249I		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GGTTATCAGTCATTCCATCAG	0.463																																						dbGAP											0													86.0	91.0	89.0					9																	37441802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.747G>T	9.37:g.37441802C>A	ENSP00000307604:p.Met249Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M249I	ENST00000307750.4	37	c.747	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	C	0.090	-1.167944	0.01660	.	.	ENSG00000168795	ENST00000307750	T	0.07216	3.21	5.65	4.68	0.58851	.	0.502664	0.22331	N	0.061471	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33904	-0.9850	10	0.37606	T	0.19	.	2.3078	0.04178	0.1714:0.5:0.1924:0.1362	.	249	O15062	ZBTB5_HUMAN	I	249	ENSP00000307604:M249I	ENSP00000307604:M249I	M	-	3	0	ZBTB5	37431802	0.000000	0.05858	0.316000	0.25252	0.159000	0.22180	-0.053000	0.11846	2.941000	0.99782	0.655000	0.94253	ATG	ZBTB5	-	NULL	ENSG00000168795		0.463	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	45	0.00	0	C	NM_014872		37441802	37441802	-1	no_errors	ENST00000307750	ensembl	human	known	69_37n	missense	40	13.04	6	SNP	0.024	A
ZC2HC1A	51101	genome.wustl.edu	37	8	79598808	79598808	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:79598808A>C	ENST00000263849.4	+	4	419	c.317A>C	c.(316-318)aAa>aCa	p.K106T	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	106							metal ion binding (GO:0046872)										GAGGGTGGCAAACTTCCTCCT	0.393																																						dbGAP											0													67.0	64.0	65.0					8																	79598808		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.317A>C	8.37:g.79598808A>C	ENSP00000263849:p.Lys106Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y372	Missense_Mutation	SNP	NULL	p.K106T	ENST00000263849.4	37	c.317	CCDS6223.1	8	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073003	0.55646	.	.	ENSG00000104427	ENST00000263849	T	0.47869	0.83	5.35	4.19	0.49359	.	0.141754	0.64402	D	0.000005	T	0.35711	0.0941	L	0.40543	1.245	0.80722	D	1	P	0.48640	0.913	B	0.38562	0.276	T	0.08597	-1.0714	9	.	.	.	-12.1166	11.3933	0.49827	0.9285:0.0:0.0715:0.0	.	106	Q96GY0	F164A_HUMAN	T	106	ENSP00000263849:K106T	.	K	+	2	0	FAM164A	79761363	0.980000	0.34600	0.997000	0.53966	0.997000	0.91878	3.297000	0.51810	0.969000	0.38237	0.477000	0.44152	AAA	ZC2HC1A	-	NULL	ENSG00000104427		0.393	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC2HC1A	HGNC	protein_coding	OTTHUMT00000379423.2	104	0.00	0	A	NM_016010		79598808	79598808	+1	no_errors	ENST00000263849	ensembl	human	known	69_37n	missense	83	13.54	13	SNP	0.998	C
ZC3H11A	9877	genome.wustl.edu	37	1	203818959	203818959	+	Missense_Mutation	SNP	C	C	T	rs35951834		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:203818959C>T	ENST00000545588.1	+	14	5571	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.R582W|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.R582W|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.R582W|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.R582W	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	582					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GACACCTCTTCGGGGAGATGT	0.493																																						dbGAP											0													103.0	96.0	98.0					1																	203818959		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1744C>T	1.37:g.203818959C>T	ENSP00000438527:p.Arg582Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.R582W	ENST00000545588.1	37	c.1744	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	C	7.051	0.564377	0.13498	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.59	-0.903	0.10534	.	1.077240	0.07021	N	0.826851	T	0.37812	0.1017	L	0.38838	1.175	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.37314	-0.9711	10	0.66056	D	0.02	-18.2244	9.381	0.38313	0.0:0.5367:0.0:0.4633	.	582	O75152	ZC11A_HUMAN	W	582;528;582;582;582;582	ENSP00000356183:R582W;ENSP00000356181:R582W;ENSP00000333253:R582W;ENSP00000438527:R582W;ENSP00000356179:R582W	ENSP00000333253:R582W	R	+	1	2	ZC3H11A	202085582	0.000000	0.05858	0.000000	0.03702	0.266000	0.26442	-0.108000	0.10857	-0.459000	0.07013	-1.073000	0.02249	CGG	ZC3H11A	-	NULL	ENSG00000058673		0.493	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	101	0.00	0	C	NM_014827		203818959	203818959	+1	no_errors	ENST00000332127	ensembl	human	known	69_37n	missense	97	13.27	15	SNP	0.000	T
ZC3H12B	340554	genome.wustl.edu	37	X	64718922	64718922	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:64718922C>T	ENST00000338957.4	+	3	859	c.792C>T	c.(790-792)gtC>gtT	p.V264V	ZC3H12B_ENST00000423889.3_Silent_p.V253V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	264							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGATTCTTGTCTTCACACCAT	0.403																																						dbGAP											0													170.0	158.0	162.0					X																	64718922		1899	4108	6007	-	-	-	SO:0001819	synonymous_variant	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.792C>T	X.37:g.64718922C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.V264	ENST00000338957.4	37	c.792	CCDS48131.2	X																																																																																			ZC3H12B	-	pfam_RNase_Zc3h12	ENSG00000102053		0.403	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	136	0.00	0	C	XM_293334		64718922	64718922	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	silent	72	26.26	26	SNP	1.000	T
ZC3H12C	85463	genome.wustl.edu	37	11	110030200	110030200	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:110030200C>A	ENST00000278590.3	+	4	1184	c.1133C>A	c.(1132-1134)tCa>tAa	p.S378*	ZC3H12C_ENST00000453089.2_Nonsense_Mutation_p.S347*|ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.S379*	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	378							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTAATGTATTCATTTGTCAAT	0.368																																						dbGAP											0													40.0	41.0	41.0					11																	110030200		1987	4178	6165	-	-	-	SO:0001587	stop_gained	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1133C>A	11.37:g.110030200C>A	ENSP00000278590:p.Ser378*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI65|B4DR47	Nonsense_Mutation	SNP	pfam_RNase_Zc3h12	p.S378*	ENST00000278590.3	37	c.1133	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.356538	0.99660	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0594	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	378;379;347	.	ENSP00000278590:S378X	S	+	2	0	ZC3H12C	109535410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.006000	0.70724	2.941000	0.99782	0.655000	0.94253	TCA	ZC3H12C	-	pfam_RNase_Zc3h12	ENSG00000149289		0.368	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	64	0.00	0	C	NM_033390		110030200	110030200	+1	no_errors	ENST00000278590	ensembl	human	known	69_37n	nonsense	53	11.67	7	SNP	1.000	A
ZC3H12C	85463	genome.wustl.edu	37	11	110036118	110036118	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:110036118C>T	ENST00000278590.3	+	6	2359	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R739C|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771C	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	770							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.R770S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GCCTTATTCCCGCCAGGAAGG	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											101.0	105.0	104.0					11																	110036118		1980	4178	6158	-	-	-	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2308C>T	11.37:g.110036118C>T	ENSP00000278590:p.Arg770Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R770C	ENST00000278590.3	37	c.2308	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629146	0.14257	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.29397	1.57;1.57;1.58	5.92	5.0	0.66597	.	0.526358	0.22068	N	0.065080	T	0.14830	0.0358	N	0.04880	-0.145	0.41423	D	0.987818	P;P;P	0.49635	0.926;0.926;0.926	B;B;B	0.39660	0.306;0.226;0.306	T	0.06445	-1.0826	10	0.33940	T	0.23	-14.1476	10.7834	0.46390	0.1222:0.5531:0.3247:0.0	.	771;770;770	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	C	770;771;739	ENSP00000278590:R770C;ENSP00000431821:R771C;ENSP00000413094:R739C	ENSP00000278590:R770C	R	+	1	0	ZC3H12C	109541328	0.872000	0.30054	0.952000	0.39060	0.073000	0.16967	1.432000	0.34936	1.487000	0.48415	0.655000	0.94253	CGC	ZC3H12C	-	NULL	ENSG00000149289		0.552	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	95	0.00	0	C	NM_033390		110036118	110036118	+1	no_errors	ENST00000278590	ensembl	human	known	69_37n	missense	93	23.14	28	SNP	0.702	T
ZC3H13	23091	genome.wustl.edu	37	13	46541951	46541951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46541951G>A	ENST00000242848.4	-	15	4357	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1337*|ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R293*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1337							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		aatctatctcgatccctgttg	0.478																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													306.0	204.0	239.0					13																	46541951		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4009C>T	13.37:g.46541951G>A	ENSP00000242848:p.Arg1337*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R1337*	ENST00000242848.4	37	c.4009		13	.	.	.	.	.	.	.	.	.	.	G	45	11.511628	0.99570	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.28	4.42	0.53409	.	0.000000	0.39615	N	0.001307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.706	0.69191	0.0:0.0:0.8536:0.1464	.	.	.	.	X	1337;293;1337	.	ENSP00000242848:R1337X	R	-	1	2	ZC3H13	45439952	1.000000	0.71417	0.993000	0.49108	0.566000	0.35808	4.867000	0.63013	1.179000	0.42884	0.591000	0.81541	CGA	ZC3H13	-	NULL	ENSG00000123200		0.478	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	1059	0.00	0	G	NM_015070		46541951	46541951	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	nonsense	654	28.40	261	SNP	1.000	A
ZC3H13	23091	genome.wustl.edu	37	13	46543420	46543420	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46543420C>T	ENST00000242848.4	-	14	3607	c.3259G>A	c.(3259-3261)Gcc>Acc	p.A1087T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.A1087T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.A43T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1087							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGAGTCGTGGCGGTGGCAGTA	0.532																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													126.0	103.0	111.0					13																	46543420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3259G>A	13.37:g.46543420C>T	ENSP00000242848:p.Ala1087Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A1087T	ENST00000242848.4	37	c.3259		13	.	.	.	.	.	.	.	.	.	.	C	0.442	-0.898099	0.02472	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.48201	2.48;0.82;1.48	4.08	-3.72	0.04411	.	0.882556	0.09597	N	0.780691	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14144	-1.0483	10	0.30854	T	0.27	.	5.9179	0.19065	0.1451:0.2594:0.0:0.5954	.	1087;1087	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	T	1087;43;1087	ENSP00000242848:A1087T;ENSP00000368201:A43T;ENSP00000282007:A1087T	ENSP00000242848:A1087T	A	-	1	0	ZC3H13	45441421	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.074000	0.03427	-0.961000	0.03609	0.561000	0.74099	GCC	ZC3H13	-	NULL	ENSG00000123200		0.532	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	362	0.28	1	C	NM_015070		46543420	46543420	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	missense	245	18.09	55	SNP	0.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46543501	46543501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46543501C>A	ENST00000242848.4	-	14	3526	c.3178G>T	c.(3178-3180)Gaa>Taa	p.E1060*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.E1060*|ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.E16*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1060							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCTGTATCTTCTTTTTTCTGG	0.478																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													125.0	119.0	121.0					13																	46543501		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3178G>T	13.37:g.46543501C>A	ENSP00000242848:p.Glu1060*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E1060*	ENST00000242848.4	37	c.3178		13	.	.	.	.	.	.	.	.	.	.	C	43	10.483348	0.99413	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.8061	0.96532	0.0:1.0:0.0:0.0	.	.	.	.	X	1060;16;1060	.	ENSP00000242848:E1060X	E	-	1	0	ZC3H13	45441502	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	3.334000	0.52097	2.756000	0.94617	0.655000	0.94253	GAA	ZC3H13	-	NULL	ENSG00000123200		0.478	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	383	0.00	0	C	NM_015070		46543501	46543501	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	nonsense	271	14.73	47	SNP	1.000	A
ZC3H13	23091	genome.wustl.edu	37	13	46543638	46543638	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46543638G>T	ENST00000242848.4	-	14	3389	c.3041C>A	c.(3040-3042)tCt>tAt	p.S1014Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S1014Y|ZC3H13_ENST00000378921.2_De_novo_Start_OutOfFrame			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1014	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGAAATATCAGAATCACCTTT	0.363																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													97.0	97.0	97.0					13																	46543638		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3041C>A	13.37:g.46543638G>T	ENSP00000242848:p.Ser1014Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S1014Y	ENST00000242848.4	37	c.3041		13	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218935	0.39201	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.54866	1.57;0.55	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000006	T	0.73466	0.3590	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.73480	-0.3969	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1014;1014	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	1014	ENSP00000242848:S1014Y;ENSP00000282007:S1014Y	ENSP00000242848:S1014Y	S	-	2	0	ZC3H13	45441639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.941000	0.99782	0.655000	0.94253	TCT	ZC3H13	-	NULL	ENSG00000123200		0.363	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	410	0.00	0	G	NM_015070		46543638	46543638	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	missense	304	17.84	66	SNP	1.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46543915	46543915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46543915C>A	ENST00000242848.4	-	14	3112	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.E922*|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	922							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTGTCTGTTCTCTCTGTTTA	0.443																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													332.0	305.0	314.0					13																	46543915		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2764G>T	13.37:g.46543915C>A	ENSP00000242848:p.Glu922*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E922*	ENST00000242848.4	37	c.2764		13	.	.	.	.	.	.	.	.	.	.	C	44	10.739612	0.99460	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	6.13	6.13	0.99165	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	922	.	ENSP00000242848:E922X	E	-	1	0	ZC3H13	45441916	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.968000	0.56809	2.937000	0.99478	0.650000	0.86243	GAA	ZC3H13	-	NULL	ENSG00000123200		0.443	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	810	0.00	0	C	NM_015070		46543915	46543915	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	nonsense	454	30.47	199	SNP	1.000	A
ZC3H13	23091	genome.wustl.edu	37	13	46544101	46544101	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:46544101T>G	ENST00000242848.4	-	14	2926	c.2578A>C	c.(2578-2580)Aaa>Caa	p.K860Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.K860Q|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	860							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGTCTGTGTTTTTCATCTATA	0.408																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	dbGAP											0													100.0	102.0	101.0					13																	46544101		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2578A>C	13.37:g.46544101T>G	ENSP00000242848:p.Lys860Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K860Q	ENST00000242848.4	37	c.2578		13	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451709	0.26074	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.37584	2.19;1.19	5.93	4.73	0.59995	.	0.000000	0.64402	D	0.000004	T	0.48660	0.1512	L	0.60455	1.87	0.80722	D	1	D;D	0.63046	0.986;0.992	P;P	0.57101	0.655;0.813	T	0.39014	-0.9634	10	0.32370	T	0.25	.	13.3652	0.60680	0.0:0.0:0.1316:0.8684	.	860;860	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	860	ENSP00000242848:K860Q;ENSP00000282007:K860Q	ENSP00000242848:K860Q	K	-	1	0	ZC3H13	45442102	1.000000	0.71417	0.942000	0.38095	0.738000	0.42128	5.782000	0.68973	1.038000	0.40049	0.533000	0.62120	AAA	ZC3H13	-	NULL	ENSG00000123200		0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	528	0.00	0	T	NM_015070		46544101	46544101	-1	no_errors	ENST00000242848	ensembl	human	known	69_37n	missense	400	15.61	74	SNP	1.000	G
ZC3H6	376940	genome.wustl.edu	37	2	113079352	113079352	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:113079352C>A	ENST00000409871.1	+	8	1397	c.996C>A	c.(994-996)ttC>ttA	p.F332L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.F332L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	332							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CATGCAAGTTCTATCATAGTG	0.299																																						dbGAP											0													51.0	45.0	46.0					2																	113079352		1791	4063	5854	-	-	-	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.996C>A	2.37:g.113079352C>A	ENSP00000386764:p.Phe332Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.F332L	ENST00000409871.1	37	c.996	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355104	0.24512	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.26660	1.72;1.72	5.53	0.66	0.17868	Zinc finger, CCCH-type (2);	0.625563	0.17261	N	0.180797	T	0.19927	0.0479	M	0.68952	2.095	0.46678	D	0.999155	P	0.36438	0.553	B	0.26310	0.068	T	0.13229	-1.0517	10	0.12103	T	0.63	-12.2866	11.2966	0.49282	0.0:0.561:0.0:0.439	.	332	P61129	ZC3H6_HUMAN	L	332;332;309	ENSP00000386764:F332L;ENSP00000340298:F332L	ENSP00000340298:F332L	F	+	3	2	ZC3H6	112795823	0.974000	0.33945	0.999000	0.59377	0.994000	0.84299	0.221000	0.17680	0.121000	0.18284	0.637000	0.83480	TTC	ZC3H6	-	smart_Znf_CCCH	ENSG00000188177		0.299	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	185	0.00	0	C	NM_198581		113079352	113079352	+1	no_errors	ENST00000343936	ensembl	human	known	69_37n	missense	94	25.40	32	SNP	1.000	A
ZC3H7A	29066	genome.wustl.edu	37	16	11850204	11850204	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:11850204G>A	ENST00000396516.2	-	20	2648	c.2451C>T	c.(2449-2451)taC>taT	p.Y817Y	ZC3H7A_ENST00000355758.4_Silent_p.Y817Y|ZC3H7A_ENST00000575984.1_Silent_p.Y13Y			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	817						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GCCATAGTTCGTAAAATTGCT	0.328																																						dbGAP											0													171.0	154.0	160.0					16																	11850204		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2451C>T	16.37:g.11850204G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUG5|Q9NPE9	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.Y817	ENST00000396516.2	37	c.2451	CCDS10550.1	16																																																																																			ZC3H7A	-	NULL	ENSG00000122299		0.328	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	622	0.00	0	G	NM_014153		11850204	11850204	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	silent	345	17.46	73	SNP	1.000	A
ZC3H7A	29066	genome.wustl.edu	37	16	11873197	11873197	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:11873197C>A	ENST00000396516.2	-	3	328	c.131G>T	c.(130-132)aGa>aTa	p.R44I	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.R44I|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	44						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAAAAGATTTCTCACGAGAGC	0.323																																						dbGAP											0													92.0	93.0	92.0					16																	11873197		2196	4300	6496	-	-	-	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.131G>T	16.37:g.11873197C>A	ENSP00000379773:p.Arg44Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R44I	ENST00000396516.2	37	c.131	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833015	0.50951	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.74002	-0.8;-0.8	5.7	4.75	0.60458	Tetratricopeptide-like helical (1);	0.087069	0.85682	D	0.000000	T	0.65260	0.2674	L	0.37561	1.115	0.80722	D	1	B	0.24092	0.097	B	0.32211	0.142	T	0.61287	-0.7093	10	0.37606	T	0.19	.	8.7747	0.34753	0.1491:0.7757:0.0:0.0752	.	44	Q8IWR0	Z3H7A_HUMAN	I	44	ENSP00000347999:R44I;ENSP00000379773:R44I	ENSP00000347999:R44I	R	-	2	0	ZC3H7A	11780698	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.909000	0.48758	1.421000	0.47157	-0.373000	0.07131	AGA	ZC3H7A	-	NULL	ENSG00000122299		0.323	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	158	0.00	0	C	NM_014153		11873197	11873197	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	missense	133	15.82	25	SNP	1.000	A
ZC3H8	84524	genome.wustl.edu	37	2	112988455	112988455	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:112988455G>T	ENST00000409573.2	-	8	1021				ZC3H8_ENST00000272570.5_Intron|ZC3H8_ENST00000476902.1_5'UTR			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8						apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AAGAAAAAAAGAAATGTGGTA	0.289																																						dbGAP											0													40.0	41.0	41.0					2																	112988455		1234	2819	4053	-	-	-	SO:0001627	intron_variant	0			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"""Zinc fingers, CCCH-type domain containing"""	30941	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 8"""	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.873+24C>A	2.37:g.112988455G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZ75	RNA	SNP	-	NULL	ENST00000409573.2	37	NULL	CCDS46392.1	2																																																																																			ZC3H8	-	-	ENSG00000144161		0.289	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	HGNC	protein_coding	OTTHUMT00000330521.3	316	0.00	0	G	NM_032494		112988455	112988455	-1	no_errors	ENST00000476902	ensembl	human	known	69_37n	rna	141	19.89	35	SNP	0.000	T
ZCCHC11	23318	genome.wustl.edu	37	1	52926879	52926879	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:52926879C>A	ENST00000371544.3	-	19	3510	c.3248G>T	c.(3247-3249)aGa>aTa	p.R1083I	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1083I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1083					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCTAGCATTCTTGTGTTATG	0.289																																						dbGAP											0													101.0	100.0	100.0					1																	52926879		2203	4294	6497	-	-	-	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3248G>T	1.37:g.52926879C>A	ENSP00000360599:p.Arg1083Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R1083I	ENST00000371544.3	37	c.3248	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899710	0.91962	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.85130	0.947;0.997	T	0.70781	-0.4779	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	842;1083	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	1083;1083;1012;842	ENSP00000257177:R1083I;ENSP00000360599:R1083I;ENSP00000433486:R1012I;ENSP00000435256:R842I	ENSP00000257177:R1083I	R	-	2	0	ZCCHC11	52699467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.873000	0.98535	0.563000	0.77884	AGA	ZCCHC11	-	NULL	ENSG00000134744		0.289	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	504	0.00	0	C	XM_038288		52926879	52926879	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	missense	264	18.77	61	SNP	1.000	A
ZCCHC11	23318	genome.wustl.edu	37	1	52943419	52943419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:52943419C>A	ENST00000371544.3	-	12	2246	c.1984G>T	c.(1984-1986)Gaa>Taa	p.E662*	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E662*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	662	PAP-associated 1.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTTTATTTTCTCTTGTTAAA	0.333																																						dbGAP											0													101.0	105.0	104.0					1																	52943419		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1984G>T	1.37:g.52943419C>A	ENSP00000360599:p.Glu662*	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E662*	ENST00000371544.3	37	c.1984	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.589912	0.97688	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	.	.	.	5.72	5.72	0.89469	.	0.048867	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	.	.	.	X	662;662;591;421	.	ENSP00000257177:E662X	E	-	1	0	ZCCHC11	52716007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.291000	0.78721	2.695000	0.91970	0.650000	0.86243	GAA	ZCCHC11	-	pfam_PAP_assoc	ENSG00000134744		0.333	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	344	0.00	0	C	XM_038288		52943419	52943419	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	nonsense	275	11.58	36	SNP	1.000	A
ZCCHC13	389874	genome.wustl.edu	37	X	73524265	73524265	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:73524265G>A	ENST00000339534.2	+	1	241	c.164G>A	c.(163-165)cGt>cAt	p.R55H		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	55							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GAGTCCGGTCGTAATGCTAAG	0.537													G|||	1	0.000264901	0.0	0.0	3775	,	,		14086	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													140.0	91.0	108.0					X																	73524265		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.164G>A	X.37:g.73524265G>A	ENSP00000345633:p.Arg55His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R55H	ENST00000339534.2	37	c.164	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958137	0.00465	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	3.16	0.36331	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.64402	N	0.000001	T	0.03011	0.0089	N	0.00015	-2.885	0.21499	N	0.999667	B	0.02656	0.0	B	0.01281	0.0	T	0.38520	-0.9657	9	0.09590	T	0.72	.	7.3661	0.26774	0.8919:0.0:0.1081:0.0	.	55	Q8WW36	ZCH13_HUMAN	H	55	.	ENSP00000345633:R55H	R	+	2	0	ZCCHC13	73440990	0.207000	0.23482	0.676000	0.29932	0.004000	0.04260	0.355000	0.20163	0.801000	0.34066	-0.384000	0.06662	CGT	ZCCHC13	-	superfamily_Znf_CCHC,smart_Znf_CCHC	ENSG00000187969		0.537	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	HGNC	protein_coding	OTTHUMT00000057260.1	129	0.77	1	G	NM_203303		73524265	73524265	+1	no_errors	ENST00000339534	ensembl	human	known	69_37n	missense	111	13.85	18	SNP	0.822	A
ZCCHC13	389874	genome.wustl.edu	37	X	73524275	73524275	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:73524275G>T	ENST00000339534.2	+	1	251	c.174G>T	c.(172-174)aaG>aaT	p.K58N		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	58							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTAATGCTAAGAACTGTGTCC	0.522																																						dbGAP											0													144.0	97.0	113.0					X																	73524275		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.174G>T	X.37:g.73524275G>T	ENSP00000345633:p.Lys58Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.K58N	ENST00000339534.2	37	c.174	CCDS14425.1	X	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548575	0.27652	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	1.02	0.19986	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.140857	0.47093	U	0.000252	T	0.44519	0.1297	M	0.78223	2.4	0.09310	N	1	B	0.16166	0.016	B	0.11329	0.006	T	0.46512	-0.9186	9	0.87932	D	0	.	6.9546	0.24563	0.427:0.0:0.573:0.0	.	58	Q8WW36	ZCH13_HUMAN	N	58	.	ENSP00000345633:K58N	K	+	3	2	ZCCHC13	73441000	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	0.056000	0.14256	0.058000	0.16222	0.529000	0.55759	AAG	ZCCHC13	-	superfamily_Znf_CCHC,smart_Znf_CCHC	ENSG00000187969		0.522	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC13	HGNC	protein_coding	OTTHUMT00000057260.1	144	0.00	0	G	NM_203303		73524275	73524275	+1	no_errors	ENST00000339534	ensembl	human	known	69_37n	missense	111	15.91	21	SNP	0.015	T
ZCCHC16	340595	genome.wustl.edu	37	X	111698508	111698508	+	Silent	SNP	C	C	T	rs138326550	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:111698508C>T	ENST00000340433.2	+	1	782	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	184							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGTCAGTTCGAAAAGGCAC	0.463																																						dbGAP											0													102.0	90.0	94.0					X																	111698508		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.552C>T	X.37:g.111698508C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG1	Silent	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.F184	ENST00000340433.2	37	c.552	CCDS35369.1	X																																																																																			ZCCHC16	-	NULL	ENSG00000187823		0.463	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	240	0.41	1	C	NM_001004308		111698508	111698508	+1	no_errors	ENST00000340433	ensembl	human	known	69_37n	silent	138	17.37	29	SNP	0.001	T
ZCCHC16	340595	genome.wustl.edu	37	X	111698553	111698553	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:111698553T>G	ENST00000340433.2	+	1	827	c.597T>G	c.(595-597)acT>acG	p.T199T		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	199							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAGTGTCACTGATATGATGG	0.478																																						dbGAP											0													137.0	114.0	122.0					X																	111698553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.597T>G	X.37:g.111698553T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG1	Silent	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.T199	ENST00000340433.2	37	c.597	CCDS35369.1	X																																																																																			ZCCHC16	-	NULL	ENSG00000187823		0.478	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	305	0.00	0	T	NM_001004308		111698553	111698553	+1	no_errors	ENST00000340433	ensembl	human	known	69_37n	silent	157	25.59	54	SNP	0.013	G
ZCCHC4	29063	genome.wustl.edu	37	4	25315704	25315704	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:25315704A>G	ENST00000302874.4	+	2	188	c.164A>G	c.(163-165)aAa>aGa	p.K55R	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	55							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ACCCAAGGGAAAGAAGAAACT	0.363																																						dbGAP											0													164.0	154.0	157.0					4																	25315704		1789	4067	5856	-	-	-	SO:0001583	missense	0			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.164A>G	4.37:g.25315704A>G	ENSP00000303468:p.Lys55Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase	p.K55R	ENST00000302874.4	37	c.164	CCDS43218.1	4	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788611	0.31685	.	.	ENSG00000168228	ENST00000302874;ENST00000450254	T	0.26810	1.71	5.77	1.73	0.24493	Zinc finger, GRF-type (1);	0.486350	0.25651	N	0.029203	T	0.16300	0.0392	L	0.33485	1.01	0.32704	N	0.512498	B	0.11235	0.004	B	0.18871	0.023	T	0.08659	-1.0711	10	0.44086	T	0.13	-17.0176	4.8653	0.13606	0.6891:0.0:0.1785:0.1323	.	55	Q9H5U6	ZCHC4_HUMAN	R	55;31	ENSP00000303468:K55R	ENSP00000303468:K55R	K	+	2	0	ZCCHC4	24924802	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	2.282000	0.43461	0.057000	0.16193	0.528000	0.53228	AAA	ZCCHC4	-	pfam_Znf_GRF	ENSG00000168228		0.363	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC4	HGNC	protein_coding	OTTHUMT00000361151.1	404	0.00	0	A			25315704	25315704	+1	no_errors	ENST00000302874	ensembl	human	known	69_37n	missense	175	32.69	85	SNP	0.996	G
ZCCHC6	79670	genome.wustl.edu	37	9	88919853	88919853	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:88919853A>C	ENST00000375963.3	-	24	4068	c.3896T>G	c.(3895-3897)tTt>tGt	p.F1299C	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.F1261C|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.F199C|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.F588C|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.F1063C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1299					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTTCATTATAAAATTTGTCAC	0.383																																						dbGAP											0													32.0	32.0	32.0					9																	88919853		2201	4300	6501	-	-	-	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3896T>G	9.37:g.88919853A>C	ENSP00000365130:p.Phe1299Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F1299C	ENST00000375963.3	37	c.3896	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061291	0.76187	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.63843	1.955	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.997;0.998;0.981	T	0.72060	-0.4404	10	0.59425	D	0.04	-26.1197	15.0882	0.72170	1.0:0.0:0.0:0.0	.	1261;1063;1299	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	C	588;1063;1261;199;1299	ENSP00000277141:F588C;ENSP00000365127:F1063C;ENSP00000365128:F1261C;ENSP00000365124:F199C;ENSP00000365130:F1299C	ENSP00000277141:F588C	F	-	2	0	ZCCHC6	88109673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.709000	0.91379	2.205000	0.71048	0.533000	0.62120	TTT	ZCCHC6	-	NULL	ENSG00000083223		0.383	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	102	0.00	0	A	NM_024617		88919853	88919853	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	1.000	C
ZCCHC7	84186	genome.wustl.edu	37	9	37327810	37327810	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:37327810C>A	ENST00000336755.5	+	6	1072	c.966C>A	c.(964-966)atC>atA	p.I322I	ZCCHC7_ENST00000534928.1_Silent_p.I32I|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	322						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GCACAGAAATCTGGAGGCAGT	0.423																																						dbGAP											0													117.0	113.0	115.0					9																	37327810		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.966C>A	9.37:g.37327810C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.I322	ENST00000336755.5	37	c.966	CCDS6608.2	9																																																																																			ZCCHC7	-	superfamily_Znf_CCHC	ENSG00000147905		0.423	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC7	HGNC	protein_coding	OTTHUMT00000052453.2	489	0.00	0	C	NM_032226		37327810	37327810	+1	no_errors	ENST00000336755	ensembl	human	known	69_37n	silent	405	10.40	47	SNP	1.000	A
ZCCHC6	79670	genome.wustl.edu	37	9	88933974	88933974	+	Splice_Site	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:88933974C>A	ENST00000375963.3	-	16	3288		c.e16-1		ZCCHC6_ENST00000375961.2_Splice_Site|ZCCHC6_ENST00000375957.1_Splice_Site|ZCCHC6_ENST00000277141.6_Splice_Site|ZCCHC6_ENST00000375960.2_Intron	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6						RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AATTTAGTTCCTGTTAGGGAT	0.353																																						dbGAP											0													75.0	67.0	70.0					9																	88933974		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3116-1G>T	9.37:g.88933974C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Splice_Site	SNP	-	e15-1	ENST00000375963.3	37	c.3116-1	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795507	0.70452	.	.	ENSG00000083223	ENST00000277141;ENST00000375961;ENST00000375963	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC6	88123794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.357000	0.73051	2.826000	0.97356	0.655000	0.94253	.	ZCCHC6	-	-	ENSG00000083223		0.353	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	141	0.00	0	C	NM_024617	Intron	88933974	88933974	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	splice_site	76	36.67	44	SNP	1.000	A
ZCCHC8	55596	genome.wustl.edu	37	12	122958760	122958760	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:122958760G>A	ENST00000336229.4	-	14	1538	c.1408C>T	c.(1408-1410)Cct>Tct	p.P470S	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.P232S|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.P232S|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.P81S	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	470	Pro-rich.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGAGTGTCAGGAGGTAATGGT	0.522																																						dbGAP											0													61.0	66.0	65.0					12																	122958760		2056	4207	6263	-	-	-	SO:0001583	missense	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1408C>T	12.37:g.122958760G>A	ENSP00000337313:p.Pro470Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.P470S	ENST00000336229.4	37	c.1408		12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924805	0.92319	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.59224	0.78;0.78;0.77;0.28	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.68952	2.095	0.80722	D	1	D	0.65815	0.995	P	0.57425	0.82	T	0.62077	-0.6930	10	0.12103	T	0.63	-9.9511	20.4084	0.99013	0.0:0.0:1.0:0.0	.	470	Q6NZY4	ZCHC8_HUMAN	S	232;232;470;81;81	ENSP00000441423:P232S;ENSP00000438993:P232S;ENSP00000337313:P470S;ENSP00000440028:P81S	ENSP00000337313:P470S	P	-	1	0	ZCCHC8	121524713	1.000000	0.71417	0.849000	0.33467	0.695000	0.40330	8.449000	0.90337	2.833000	0.97629	0.650000	0.86243	CCT	ZCCHC8	-	NULL	ENSG00000033030		0.522	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		180	0.00	0	G	NM_017612		122958760	122958760	-1	no_errors	ENST00000336229	ensembl	human	known	69_37n	missense	158	15.05	28	SNP	1.000	A
ZCCHC8	55596	genome.wustl.edu	37	12	122983411	122983411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:122983411C>A	ENST00000336229.4	-	2	335	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	ZCCHC8_ENST00000536306.1_5'UTR|ZCCHC8_ENST00000543897.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	69					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CGTTTAAGTTCTTGATGTTAT	0.289																																						dbGAP											0													113.0	104.0	107.0					12																	122983411		1818	4084	5902	-	-	-	SO:0001587	stop_gained	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.205G>T	12.37:g.122983411C>A	ENSP00000337313:p.Glu69*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Nonsense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.E69*	ENST00000336229.4	37	c.205		12	.	.	.	.	.	.	.	.	.	.	C	36	5.797071	0.96952	.	.	ENSG00000033030	ENST00000336229	.	.	.	5.23	3.39	0.38822	.	0.439597	0.19105	U	0.122617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	4.6755	7.5731	0.27920	0.0:0.7196:0.1362:0.1442	.	.	.	.	X	69	.	ENSP00000337313:E69X	E	-	1	0	ZCCHC8	121549364	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.699000	0.37804	0.694000	0.31654	-0.224000	0.12420	GAA	ZCCHC8	-	NULL	ENSG00000033030		0.289	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		240	0.00	0	C	NM_017612		122983411	122983411	-1	no_errors	ENST00000336229	ensembl	human	known	69_37n	nonsense	133	11.92	18	SNP	1.000	A
ZCWPW1	55063	genome.wustl.edu	37	7	100004384	100004384	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100004384G>T	ENST00000398027.2	-	12	1350	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S248Y|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S248Y|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S369Y	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	368	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGCACGAGAAACTGTTTC	0.468																																						dbGAP											0													117.0	121.0	119.0					7																	100004384		1910	4134	6044	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1103C>A	7.37:g.100004384G>T	ENSP00000381109:p.Ser368Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.S368Y	ENST00000398027.2	37	c.1103	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199930	0.79015	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.6	5.6	0.85130	PWWP (2);	0.000000	0.53938	D	0.000058	D	0.83216	0.5206	M	0.73430	2.235	0.44927	D	0.997944	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.997;0.999	T	0.83221	-0.0068	9	.	.	.	-12.8374	15.107	0.72329	0.0:0.0:1.0:0.0	.	369;329;371;368;248	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	Y	368;248;369;248;118;371	ENSP00000381109:S368Y;ENSP00000419187:S248Y;ENSP00000354210:S369Y;ENSP00000314880:S248Y;ENSP00000418351:S118Y	.	S	-	2	0	ZCWPW1	99842320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.953000	0.40352	2.615000	0.88500	0.655000	0.94253	TCT	ZCWPW1	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000078487		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	469	0.00	0	G	NM_017984		100004384	100004384	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	232	30.33	101	SNP	1.000	T
ZCWPW1	55063	genome.wustl.edu	37	7	99999580	99999580	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99999580G>A	ENST00000398027.2	-	17	1803	c.1556C>T	c.(1555-1557)tCc>tTc	p.S519F	ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	519							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGAGCTGTGGATTTCCTGCC	0.547																																						dbGAP											0													158.0	153.0	154.0					7																	99999580		1964	4161	6125	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1556C>T	7.37:g.99999580G>A	ENSP00000381109:p.Ser519Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.S519F	ENST00000398027.2	37	c.1556	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.17|14.17	2.454199|2.454199	0.43634|0.43634	.|.	.|.	ENSG00000233389|ENSG00000078487	ENST00000449355|ENST00000398027	.|T	.|0.56611	.|0.45	4.46|4.46	1.61|1.61	0.23674|0.23674	.|.	.|.	.|.	.|.	.|.	T|T	0.38532|0.38532	0.1044|0.1044	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44578	.|0.718;0.838	.|B;B	.|0.42422	.|0.387;0.387	T|T	0.13176|0.13176	-1.0519|-1.0519	5|8	.|.	.|.	.|.	6.5765|6.5765	6.6802|6.6802	0.23115|0.23115	0.0956:0.3468:0.5575:0.0|0.0956:0.3468:0.5575:0.0	.|.	.|480;519	.|B4DXS7;Q9H0M4	.|.;ZCPW1_HUMAN	N|F	100|519	.|ENSP00000381109:S519F	.|.	D|S	+|-	1|2	0|0	AC005071.3|ZCWPW1	99837516|99837516	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.243000|0.243000	0.25628|0.25628	0.918000|0.918000	0.28678|0.28678	0.351000|0.351000	0.24027|0.24027	0.655000|0.655000	0.94253|0.94253	GAT|TCC	ZCWPW1	-	NULL	ENSG00000078487		0.547	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	453	0.00	0	G	NM_017984		99999580	99999580	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	248	12.01	34	SNP	0.000	A
ZCWPW1	55063	genome.wustl.edu	37	7	100017480	100017480	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:100017480A>C	ENST00000398027.2	-	4	302	c.55T>G	c.(55-57)Ttt>Gtt	p.F19V	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.F19V	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	19							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTGGGGCAAAGATTCTCTTT	0.463																																						dbGAP											0													82.0	76.0	78.0					7																	100017480		1855	4092	5947	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.55T>G	7.37:g.100017480A>C	ENSP00000381109:p.Phe19Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.F19V	ENST00000398027.2	37	c.55	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505413	0.64410	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.64438	-0.09;-0.1	4.94	3.77	0.43336	.	0.107851	0.41294	D	0.000915	T	0.58637	0.2136	L	0.52573	1.65	0.80722	D	1	P;P;P;D	0.59767	0.484;0.953;0.877;0.986	B;P;B;P	0.48304	0.16;0.556;0.335;0.573	T	0.56811	-0.7917	9	.	.	.	-8.4329	8.8938	0.35451	0.8111:0.1888:0.0:0.0	.	19;19;19;19	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	V	19	ENSP00000381109:F19V;ENSP00000354210:F19V	.	F	-	1	0	ZCWPW1	99855416	0.998000	0.40836	0.593000	0.28771	0.942000	0.58702	3.920000	0.56446	0.995000	0.38917	0.533000	0.62120	TTT	ZCWPW1	-	NULL	ENSG00000078487		0.463	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	174	0.00	0	A	NM_017984		100017480	100017480	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	148	32.11	70	SNP	0.827	C
ZDBF2	57683	genome.wustl.edu	37	2	207172320	207172320	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:207172320G>T	ENST00000374423.3	+	5	3454	c.3068G>T	c.(3067-3069)aGa>aTa	p.R1023I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1023							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAATAAACAGAAAGAAGCAA	0.343																																						dbGAP											0													65.0	62.0	63.0					2																	207172320		1831	4078	5909	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3068G>T	2.37:g.207172320G>T	ENSP00000363545:p.Arg1023Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R1023I	ENST00000374423.3	37	c.3068	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109394	0.20714	.	.	ENSG00000204186	ENST00000374423	T	0.48836	0.8	4.25	1.51	0.23008	.	0.489226	0.15607	N	0.253592	T	0.40196	0.1107	N	0.22421	0.69	0.09310	N	1	D	0.61697	0.99	P	0.56398	0.797	T	0.21965	-1.0230	10	0.18276	T	0.48	.	6.2669	0.20932	0.3038:0.0:0.6962:0.0	.	1023	Q9HCK1	ZDBF2_HUMAN	I	1023	ENSP00000363545:R1023I	ENSP00000363545:R1023I	R	+	2	0	ZDBF2	206880565	0.871000	0.30034	0.004000	0.12327	0.013000	0.08279	1.145000	0.31577	0.339000	0.23719	0.655000	0.94253	AGA	ZDBF2	-	NULL	ENSG00000204186		0.343	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	91	0.00	0	G	NM_020923		207172320	207172320	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	0.005	T
ZDBF2	57683	genome.wustl.edu	37	2	207173694	207173694	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:207173694A>G	ENST00000374423.3	+	5	4828	c.4442A>G	c.(4441-4443)gAa>gGa	p.E1481G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1481							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTTCAGAAGGAAGAGCATGTT	0.378																																						dbGAP											0													70.0	72.0	71.0					2																	207173694		1914	4118	6032	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4442A>G	2.37:g.207173694A>G	ENSP00000363545:p.Glu1481Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.E1481G	ENST00000374423.3	37	c.4442	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	A	9.411	1.080420	0.20309	.	.	ENSG00000204186	ENST00000374423	T	0.47177	0.85	3.76	-3.64	0.04515	.	.	.	.	.	T	0.36248	0.0960	L	0.50333	1.59	0.09310	N	1	P	0.47409	0.895	P	0.44518	0.452	T	0.27806	-1.0063	9	0.66056	D	0.02	.	0.9303	0.01334	0.3743:0.1652:0.2998:0.1607	.	1481	Q9HCK1	ZDBF2_HUMAN	G	1481	ENSP00000363545:E1481G	ENSP00000363545:E1481G	E	+	2	0	ZDBF2	206881939	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.655000	0.05348	-0.692000	0.05128	-0.256000	0.11100	GAA	ZDBF2	-	NULL	ENSG00000204186		0.378	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	193	0.00	0	A	NM_020923		207173694	207173694	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	129	19.75	32	SNP	0.000	G
ZDBF2	57683	genome.wustl.edu	37	2	207174276	207174276	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:207174276G>A	ENST00000374423.3	+	5	5410	c.5024G>A	c.(5023-5025)cGa>cAa	p.R1675Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1675							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTTCTCATCGAACGACTCAC	0.408																																						dbGAP											0													92.0	90.0	91.0					2																	207174276		1871	4103	5974	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5024G>A	2.37:g.207174276G>A	ENSP00000363545:p.Arg1675Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R1675Q	ENST00000374423.3	37	c.5024	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597602	0.28445	.	.	ENSG00000204186	ENST00000374423	T	0.44881	0.91	3.63	2.75	0.32379	.	.	.	.	.	T	0.23572	0.0570	N	0.22421	0.69	0.09310	N	1	P	0.36222	0.544	B	0.24269	0.052	T	0.06643	-1.0815	9	0.37606	T	0.19	.	9.0304	0.36256	0.0:0.757:0.243:0.0	.	1675	Q9HCK1	ZDBF2_HUMAN	Q	1675	ENSP00000363545:R1675Q	ENSP00000363545:R1675Q	R	+	2	0	ZDBF2	206882521	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.878000	0.28126	1.121000	0.41925	-0.165000	0.13383	CGA	ZDBF2	-	NULL	ENSG00000204186		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	133	0.00	0	G	NM_020923		207174276	207174276	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	0.001	A
ZDBF2	57683	genome.wustl.edu	37	2	207176298	207176298	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:207176298G>T	ENST00000374423.3	+	5	7432	c.7046G>T	c.(7045-7047)aGa>aTa	p.R2349I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2349							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAACTGAGAGGTAATGAG	0.403																																						dbGAP											0													44.0	46.0	46.0					2																	207176298		1897	4123	6020	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.7046G>T	2.37:g.207176298G>T	ENSP00000363545:p.Arg2349Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.R2349I	ENST00000374423.3	37	c.7046	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099494	0.37048	.	.	ENSG00000204186	ENST00000374423	T	0.49720	0.77	5.0	-3.29	0.05017	.	.	.	.	.	T	0.28732	0.0712	L	0.36672	1.1	0.09310	N	1	B	0.31256	0.316	B	0.28553	0.091	T	0.27191	-1.0081	9	0.72032	D	0.01	.	1.2433	0.01967	0.3904:0.2295:0.2484:0.1318	.	2349	Q9HCK1	ZDBF2_HUMAN	I	2349	ENSP00000363545:R2349I	ENSP00000363545:R2349I	R	+	2	0	ZDBF2	206884543	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.365000	0.07573	-0.496000	0.06650	0.591000	0.81541	AGA	ZDBF2	-	NULL	ENSG00000204186		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	101	0.00	0	G	NM_020923		207176298	207176298	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	77	10.47	9	SNP	0.000	T
ZDHHC11	79844	genome.wustl.edu	37	5	837569	837569	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:837569A>G	ENST00000283441.8	-	6	1194	c.811T>C	c.(811-813)Tat>Cat	p.Y271H	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.Y271H|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	271						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TTAATGAGATACTCAAAGGTG	0.493																																						dbGAP											0													164.0	190.0	181.0					5																	837569		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.811T>C	5.37:g.837569A>G	ENSP00000283441:p.Tyr271His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWR9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Y271H	ENST00000283441.8	37	c.811	CCDS3857.1	5	.	.	.	.	.	.	.	.	.	.	a	12.48	1.951815	0.34471	.	.	ENSG00000188818	ENST00000424784;ENST00000283441;ENST00000511193	T;T;T	0.72615	1.89;1.89;-0.67	1.51	1.51	0.23008	.	.	.	.	.	T	0.78792	0.4339	M	0.70108	2.13	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63075	-0.6718	9	0.40728	T	0.16	-27.4435	5.2664	0.15601	1.0:0.0:0.0:0.0	.	271	Q9H8X9	ZDH11_HUMAN	H	271;271;46	ENSP00000397719:Y271H;ENSP00000283441:Y271H;ENSP00000426873:Y46H	ENSP00000283441:Y271H	Y	-	1	0	ZDHHC11	890569	0.011000	0.17503	0.003000	0.11579	0.051000	0.14879	1.208000	0.32345	0.979000	0.38497	0.315000	0.21342	TAT	ZDHHC11	-	NULL	ENSG00000188818		0.493	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	204	0.00	0	A	NM_024786		837569	837569	-1	no_errors	ENST00000283441	ensembl	human	known	69_37n	missense	119	22.22	34	SNP	0.004	G
ZDHHC15	158866	genome.wustl.edu	37	X	74636953	74636953	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:74636953T>G	ENST00000373367.3	-	10	1166	c.936A>C	c.(934-936)gaA>gaC	p.E312D	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.E303D	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	312					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CTTCCCAGGTTTCTTCATTTG	0.448																																						dbGAP											0													276.0	222.0	240.0					X																	74636953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.936A>C	X.37:g.74636953T>G	ENSP00000362465:p.Glu312Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.E312D	ENST00000373367.3	37	c.936	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004268	0.35320	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.47528	0.84;1.05	5.43	1.24	0.21308	.	0.147583	0.64402	D	0.000011	T	0.34513	0.0900	L	0.51422	1.61	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08106	-1.0738	10	0.33141	T	0.24	-0.012	4.5937	0.12319	0.1534:0.4954:0.0:0.3511	.	303;312	B3KVG7;Q96MV8	.;ZDH15_HUMAN	D	312;303	ENSP00000362465:E312D;ENSP00000445420:E303D	ENSP00000362465:E312D	E	-	3	2	ZDHHC15	74553678	0.637000	0.27216	0.992000	0.48379	0.990000	0.78478	-0.314000	0.08092	0.057000	0.16193	0.417000	0.27973	GAA	ZDHHC15	-	NULL	ENSG00000102383		0.448	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	562	0.00	0	T	NM_144969		74636953	74636953	-1	no_errors	ENST00000373367	ensembl	human	known	69_37n	missense	396	27.87	153	SNP	0.986	G
ZDHHC15	158866	genome.wustl.edu	37	X	74651338	74651338	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:74651338G>A	ENST00000373367.3	-	5	627	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	ZDHHC15_ENST00000373361.3_Missense_Mutation_p.R133W|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.R124W	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	133					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGATGACACCGGTCACAGAAT	0.458																																						dbGAP											0													71.0	57.0	61.0					X																	74651338		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.397C>T	X.37:g.74651338G>A	ENSP00000362465:p.Arg133Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.R133W	ENST00000373367.3	37	c.397	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242016	0.58995	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.25579	1.79;1.79;1.79	4.92	4.05	0.47172	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.173552	0.50627	D	0.000118	T	0.42832	0.1220	L	0.55834	1.745	0.43819	D	0.996381	D;D	0.89917	0.999;1.0	D;D	0.71414	0.935;0.973	T	0.24764	-1.0151	10	0.62326	D	0.03	-14.6858	10.8502	0.46765	0.0:0.0:0.5117:0.4883	.	124;133	B3KVG7;Q96MV8	.;ZDH15_HUMAN	W	133;124;133	ENSP00000362465:R133W;ENSP00000445420:R124W;ENSP00000362459:R133W	ENSP00000362459:R133W	R	-	1	2	ZDHHC15	74568063	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.004000	0.57068	0.851000	0.35264	0.600000	0.82982	CGG	ZDHHC15	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000102383		0.458	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	284	0.00	0	G	NM_144969		74651338	74651338	-1	no_errors	ENST00000373367	ensembl	human	known	69_37n	missense	173	24.79	58	SNP	1.000	A
ZDHHC2	51201	genome.wustl.edu	37	8	17063263	17063263	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:17063263G>A	ENST00000262096.8	+	7	1271	c.576G>A	c.(574-576)caG>caA	p.Q192Q		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	192					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CAGATTTACAGTATTTTATCA	0.313																																						dbGAP											0													188.0	180.0	182.0					8																	17063263		1809	4066	5875	-	-	-	SO:0001819	synonymous_variant	0			AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.576G>A	8.37:g.17063263G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSP5	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.Q192	ENST00000262096.8	37	c.576	CCDS47810.1	8																																																																																			ZDHHC2	-	NULL	ENSG00000104219		0.313	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC2	HGNC	protein_coding	OTTHUMT00000376014.2	552	0.00	0	G	NM_016353		17063263	17063263	+1	no_errors	ENST00000262096	ensembl	human	known	69_37n	silent	378	12.50	54	SNP	1.000	A
ZDHHC20	253832	genome.wustl.edu	37	13	21987848	21987848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:21987848C>A	ENST00000400590.3	-	4	511	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	ZDHHC20_ENST00000382466.3_Nonsense_Mutation_p.E105*|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_Nonsense_Mutation_p.E105*|ZDHHC20_ENST00000422251.1_Nonsense_Mutation_p.E105*|ZDHHC20_ENST00000542645.1_Nonsense_Mutation_p.E42*|ZDHHC20_ENST00000415724.1_Nonsense_Mutation_p.E105*			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	105					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CTCAAAATTTCTTGTTGTCTT	0.294																																						dbGAP											0													122.0	104.0	110.0					13																	21987848		1801	4071	5872	-	-	-	SO:0001587	stop_gained	0			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.313G>T	13.37:g.21987848C>A	ENSP00000383433:p.Glu105*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.E105*	ENST00000400590.3	37	c.313		13	.	.	.	.	.	.	.	.	.	.	C	32	5.167919	0.94768	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724;ENST00000422251	.	.	.	5.59	4.74	0.60224	.	0.228599	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-22.1387	14.7934	0.69860	0.0:0.856:0.144:0.0	.	.	.	.	X	105;105;105;42;105;105	.	ENSP00000313583:E105X	E	-	1	0	ZDHHC20	20885848	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	4.072000	0.57563	1.350000	0.45770	0.491000	0.48974	GAA	ZDHHC20	-	NULL	ENSG00000180776		0.294	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	601	0.00	0	C	NM_153251		21987848	21987848	-1	no_errors	ENST00000400590	ensembl	human	known	69_37n	nonsense	408	11.88	55	SNP	1.000	A
ZDHHC21	340481	genome.wustl.edu	37	9	14639978	14639978	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:14639978T>G	ENST00000380916.4	-	8	1003	c.537A>C	c.(535-537)atA>atC	p.I179I		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	179					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		CTAGTCTCATTATGGCCAATT	0.328																																						dbGAP											0													90.0	94.0	92.0					9																	14639978		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.537A>C	9.37:g.14639978T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA95|D3DRI7|Q5VWG1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.I179	ENST00000380916.4	37	c.537	CCDS6475.1	9																																																																																			ZDHHC21	-	NULL	ENSG00000175893		0.328	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC21	HGNC	protein_coding	OTTHUMT00000051748.2	460	0.00	0	T	NM_178566		14639978	14639978	-1	no_errors	ENST00000380916	ensembl	human	known	69_37n	silent	375	11.35	48	SNP	0.936	G
ZDHHC22	283576	genome.wustl.edu	37	14	77605563	77605563	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr14:77605563G>T	ENST00000319374.4	-	2	721	c.519C>A	c.(517-519)ttC>ttA	p.F173L	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	173					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CACCGGAGAAGAACTGGCTGA	0.632																																						dbGAP											0													13.0	14.0	13.0					14																	77605563		2021	4170	6191	-	-	-	SO:0001583	missense	0			AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.519C>A	14.37:g.77605563G>T	ENSP00000318222:p.Phe173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_SSD,pfscan_Znf_DHHC_palmitoyltrfase	p.F173L	ENST00000319374.4	37	c.519	CCDS45140.1	14	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267185	0.59540	.	.	ENSG00000177108	ENST00000319374	T	0.56275	0.47	5.19	2.98	0.34508	.	.	.	.	.	T	0.40839	0.1133	L	0.41961	1.31	0.58432	D	0.999998	B	0.20459	0.045	B	0.18871	0.023	T	0.17258	-1.0375	9	0.18710	T	0.47	.	10.1508	0.42791	0.2423:0.0:0.7577:0.0	.	173	Q8N966	ZDH22_HUMAN	L	173	ENSP00000318222:F173L	ENSP00000318222:F173L	F	-	3	2	ZDHHC22	76675316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.910000	0.56371	1.150000	0.42419	0.549000	0.68633	TTC	ZDHHC22	-	NULL	ENSG00000177108		0.632	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC22	HGNC	protein_coding	OTTHUMT00000414289.1	32	0.00	0	G	NM_174976		77605563	77605563	-1	no_errors	ENST00000319374	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	1.000	T
ZFAND4	93550	genome.wustl.edu	37	10	46143917	46143917	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:46143917C>T	ENST00000344646.5	-	5	609	c.394G>A	c.(394-396)Gag>Aag	p.E132K	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Missense_Mutation_p.E132K|ZFAND4_ENST00000374366.3_Missense_Mutation_p.E58K	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	132							zinc ion binding (GO:0008270)										GAGGTCTTCTCCCAGACCTCA	0.408																																						dbGAP											0													129.0	125.0	126.0					10																	46143917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.394G>A	10.37:g.46143917C>T	ENSP00000339484:p.Glu132Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,prints_Ubiquitin_subgr,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup	p.E132K	ENST00000344646.5	37	c.394	CCDS7214.1	10	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822475	0.90873	.	.	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.52057	1.51;0.68;1.51	5.78	5.78	0.91487	.	0.845126	0.10428	N	0.675897	T	0.64103	0.2568	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.72075	0.664;0.976	T	0.59547	-0.7434	10	0.66056	D	0.02	-16.3301	17.511	0.87760	0.0:1.0:0.0:0.0	.	132;132	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	K	132;132;58;132;14	ENSP00000339484:E132K;ENSP00000363491:E132K;ENSP00000363486:E58K	ENSP00000339484:E132K	E	-	1	0	ANUBL1	45463923	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.259000	0.78381	2.723000	0.93209	0.585000	0.79938	GAG	ZFAND4	-	NULL	ENSG00000172671		0.408	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	232	0.00	0	C	NM_174890		46143917	46143917	-1	no_errors	ENST00000344646	ensembl	human	known	69_37n	missense	193	14.98	34	SNP	1.000	T
ZFC3H1	196441	genome.wustl.edu	37	12	72037952	72037952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:72037952G>A	ENST00000378743.3	-	5	1784	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	476					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R476*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGAGATCTCGAATTTTTCTG	0.363																																						dbGAP											1	Substitution - Nonsense(1)	skin(1)											174.0	159.0	164.0					12																	72037952		1868	4106	5974	-	-	-	SO:0001587	stop_gained	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1426C>T	12.37:g.72037952G>A	ENSP00000368017:p.Arg476*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Nonsense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.R476*	ENST00000378743.3	37	c.1426	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.045467	0.98025	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.0	4.1	0.47936	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8725	0.57972	0.0:0.0:0.581:0.419	.	.	.	.	X	476	.	ENSP00000368017:R476X	R	-	1	2	ZFC3H1	70324219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.985000	0.40668	1.068000	0.40764	0.655000	0.94253	CGA	ZFC3H1	-	NULL	ENSG00000133858		0.363	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	603	0.00	0	G	NM_144982		72037952	72037952	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	nonsense	422	13.29	65	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77618671	77618671	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:77618671G>A	ENST00000521891.2	+	2	2796	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R783Q|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R783Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R783Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	783					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGAACCTCCGAATTCATATG	0.512										HNSCC(33;0.089)																												dbGAP											0													34.0	37.0	36.0					8																	77618671		2077	4251	6328	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2348G>A	8.37:g.77618671G>A	ENSP00000430497:p.Arg783Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R783Q	ENST00000521891.2	37	c.2348	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979455	0.34942	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.01	4.13	0.48395	Zinc finger, C2H2-like (1);	0.000000	0.39020	U	0.001493	T	0.73513	0.3596	M	0.83118	2.625	0.80722	D	1	P;D;P;D	0.89917	0.824;0.975;0.938;1.0	B;B;B;D	0.91635	0.116;0.396;0.231;0.999	T	0.78590	-0.2145	10	0.72032	D	0.01	.	13.9873	0.64343	0.0735:0.0:0.9265:0.0	.	783;783;783;783	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Q	783	ENSP00000430497:R783Q;ENSP00000399605:R783Q;ENSP00000050961:R783Q;ENSP00000430848:R783Q	ENSP00000050961:R783Q	R	+	2	0	ZFHX4	77781226	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.601000	0.98297	1.467000	0.48044	0.585000	0.79938	CGA	ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	80	0.00	0	G	NM_024721		77618671	77618671	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	72	10.84	9	SNP	1.000	A
ZNF106	64397	genome.wustl.edu	37	15	42729452	42729452	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42729452G>T	ENST00000263805.4	-	10	4981	c.4655C>A	c.(4654-4656)aCt>aAt	p.T1552N	ZNF106_ENST00000565380.1_Missense_Mutation_p.T780N|ZNF106_ENST00000565611.1_Missense_Mutation_p.T737N	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1552					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AACCCGAACAGTTTTATCTGC	0.368																																						dbGAP											0													131.0	128.0	129.0					15																	42729452		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4655C>A	15.37:g.42729452G>T	ENSP00000263805:p.Thr1552Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1552N	ENST00000263805.4	37	c.4655	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661212	0.88154	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.68903	-0.36	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.050141	0.85682	D	0.000000	T	0.80560	0.4646	M	0.64630	1.985	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.998	T	0.82230	-0.0560	10	0.72032	D	0.01	-18.2049	18.3733	0.90420	0.0:0.0:1.0:0.0	.	780;1552;780	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	N	1552;780	ENSP00000263805:T1552N	ENSP00000263805:T1552N	T	-	2	0	ZFP106	40516744	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.017000	0.70805	2.590000	0.87494	0.462000	0.41574	ACT	ZFP106	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103994		0.368	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	296	0.00	0	G	NM_022473		42729452	42729452	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	284	18.62	65	SNP	1.000	T
ZNF106	64397	genome.wustl.edu	37	15	42743220	42743220	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42743220G>T	ENST00000263805.4	-	2	1507	c.1181C>A	c.(1180-1182)aCt>aAt	p.T394N	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	394					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTTTCATCAGTTTGGGGCTC	0.408																																						dbGAP											0													278.0	266.0	270.0					15																	42743220		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1181C>A	15.37:g.42743220G>T	ENSP00000263805:p.Thr394Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T394N	ENST00000263805.4	37	c.1181	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	2.900	-0.227674	0.06022	.	.	ENSG00000103994	ENST00000263805	T	0.57752	0.38	5.44	-6.85	0.01681	.	1.076350	0.07078	N	0.836510	T	0.19208	0.0461	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.001	T	0.10042	-1.0647	10	0.27785	T	0.31	1.3012	0.2729	0.00234	0.2912:0.1799:0.2758:0.2531	.	177;394	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	N	394	ENSP00000263805:T394N	ENSP00000263805:T394N	T	-	2	0	ZFP106	40530512	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.947000	0.03901	-1.275000	0.02417	0.651000	0.88453	ACT	ZFP106	-	NULL	ENSG00000103994		0.408	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	1034	0.00	0	G	NM_022473		42743220	42743220	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	809	22.95	241	SNP	0.000	T
ZNF106	64397	genome.wustl.edu	37	15	42743464	42743464	+	Missense_Mutation	SNP	C	C	T	rs574435008		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:42743464C>T	ENST00000263805.4	-	2	1263	c.937G>A	c.(937-939)Gac>Aac	p.D313N	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	313					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AAATTGAAGTCGAGTAAGCCT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													95.0	88.0	90.0					15																	42743464		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.937G>A	15.37:g.42743464C>T	ENSP00000263805:p.Asp313Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D313N	ENST00000263805.4	37	c.937	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689371	0.29962	.	.	ENSG00000103994	ENST00000263805	T	0.58210	0.35	5.87	4.95	0.65309	.	0.377447	0.27266	N	0.020149	T	0.42810	0.1219	L	0.47716	1.5	0.80722	D	1	B;B	0.24651	0.108;0.036	B;B	0.18871	0.023;0.004	T	0.26360	-1.0105	10	0.15952	T	0.53	-6.5405	11.9442	0.52918	0.0:0.8602:0.0:0.1398	.	96;313	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	N	313	ENSP00000263805:D313N	ENSP00000263805:D313N	D	-	1	0	ZFP106	40530756	0.850000	0.29656	0.968000	0.41197	0.933000	0.57130	1.410000	0.34691	1.475000	0.48197	0.651000	0.88453	GAC	ZFP106	-	NULL	ENSG00000103994		0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	294	0.00	0	C	NM_022473		42743464	42743464	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	missense	232	20.95	62	SNP	0.948	T
ZFP28	140612	genome.wustl.edu	37	19	57065350	57065350	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57065350A>C	ENST00000301318.3	+	8	1267	c.1196A>C	c.(1195-1197)aAa>aCa	p.K399T	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GATTCAATTAAAAATTTTCAA	0.323																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													53.0	60.0	57.0					19																	57065350		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1196A>C	19.37:g.57065350A>C	ENSP00000301318:p.Lys399Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K399T	ENST00000301318.3	37	c.1196	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262066	0.23051	.	.	ENSG00000196867	ENST00000301318	T	0.06449	3.3	4.66	2.56	0.30785	.	0.426550	0.20162	N	0.097921	T	0.26593	0.0650	M	0.93283	3.4	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.03051	-1.1078	10	0.87932	D	0	.	8.4392	0.32805	0.8337:0.0:0.1663:0.0	.	399	Q8NHY6	ZFP28_HUMAN	T	399	ENSP00000301318:K399T	ENSP00000301318:K399T	K	+	2	0	ZFP28	61757162	0.005000	0.15991	0.580000	0.28601	0.034000	0.12701	1.650000	0.37292	0.382000	0.24878	-0.256000	0.11100	AAA	ZFP28	-	NULL	ENSG00000196867		0.323	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	72	0.00	0	A	NM_020828		57065350	57065350	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	missense	69	12.66	10	SNP	0.917	C
ZFP28	140612	genome.wustl.edu	37	19	57065660	57065660	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57065660G>T	ENST00000301318.3	+	8	1577	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATACTGGGGAGAAACCCTTTG	0.448																																					Ovarian(124;554 1662 19430 21141 52494)	dbGAP											0													106.0	85.0	92.0					19																	57065660		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1506G>T	19.37:g.57065660G>T	ENSP00000301318:p.Glu502Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E502D	ENST00000301318.3	37	c.1506	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591933	0.66219	.	.	ENSG00000196867	ENST00000301318	T	0.26810	1.71	4.4	3.31	0.37934	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.145215	0.32190	N	0.006445	T	0.38665	0.1049	L	0.38838	1.175	0.80722	D	1	D	0.62365	0.991	D	0.72982	0.979	T	0.24657	-1.0154	10	0.87932	D	0	.	12.5197	0.56052	0.0:0.0:0.8314:0.1686	.	502	Q8NHY6	ZFP28_HUMAN	D	502	ENSP00000301318:E502D	ENSP00000301318:E502D	E	+	3	2	ZFP28	61757472	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.320000	0.33666	1.127000	0.42034	0.650000	0.86243	GAG	ZFP28	-	pfscan_Znf_C2H2	ENSG00000196867		0.448	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	136	0.00	0	G	NM_020828		57065660	57065660	+1	no_errors	ENST00000301318	ensembl	human	known	69_37n	missense	140	11.39	18	SNP	1.000	T
ZFP3	124961	genome.wustl.edu	37	17	4995510	4995510	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:4995510T>G	ENST00000318833.3	+	2	1047	c.711T>G	c.(709-711)aaT>aaG	p.N237K		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCAGTCAAAATTCAGCCCTTA	0.398																																						dbGAP											0													67.0	70.0	69.0					17																	4995510		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.711T>G	17.37:g.4995510T>G	ENSP00000320347:p.Asn237Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLL4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N237K	ENST00000318833.3	37	c.711	CCDS11067.1	17	.	.	.	.	.	.	.	.	.	.	T	10.79	1.448673	0.26074	.	.	ENSG00000180787	ENST00000318833	T	0.07114	3.22	4.05	-0.238	0.13055	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001468	T	0.02012	0.0063	N	0.01235	-0.94	0.25651	N	0.986093	P	0.47762	0.9	B	0.41440	0.357	T	0.43442	-0.9391	10	0.10902	T	0.67	-20.3786	4.7723	0.13162	0.0:0.4255:0.1848:0.3897	.	237	Q96NJ6	ZFP3_HUMAN	K	237	ENSP00000320347:N237K	ENSP00000320347:N237K	N	+	3	2	ZFP3	4936234	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.847000	0.01675	-0.056000	0.13221	0.460000	0.39030	AAT	ZFP3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180787		0.398	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP3	HGNC	protein_coding	OTTHUMT00000438979.1	124	0.00	0	T	NM_153018		4995510	4995510	+1	no_errors	ENST00000318833	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	0.786	G
ZFP37	7539	genome.wustl.edu	37	9	115805188	115805188	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115805188C>A	ENST00000374227.3	-	4	1737	c.1710G>T	c.(1708-1710)gaG>gaT	p.E570D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E585D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E571D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATAAGGTTTCTCCCCAGTAT	0.398																																						dbGAP											0													135.0	128.0	130.0					9																	115805188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1710G>T	9.37:g.115805188C>A	ENSP00000363344:p.Glu570Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E585D	ENST00000374227.3	37	c.1755	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059393	0.36373	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.26810	1.71;1.71;1.71	4.43	3.53	0.40419	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000419	T	0.35189	0.0923	L	0.35593	1.075	0.32604	N	0.525531	D;D;P	0.69078	0.997;0.997;0.826	D;D;P	0.66084	0.941;0.941;0.685	T	0.46884	-0.9159	10	0.72032	D	0.01	-16.3299	10.9695	0.47431	0.0:0.9076:0.0:0.0924	.	571;585;570	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	D	570;571;585	ENSP00000363344:E570D;ENSP00000451310:E571D;ENSP00000452552:E585D	ENSP00000363344:E570D	E	-	3	2	ZFP37	114845009	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.817000	0.27281	1.466000	0.48025	-0.150000	0.13652	GAG	ZFP37	-	pfscan_Znf_C2H2	ENSG00000136866		0.398	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	347	0.00	0	C	NM_003408		115805188	115805188	-1	no_errors	ENST00000553380	ensembl	human	known	69_37n	missense	255	11.15	32	SNP	1.000	A
ZFP37	7539	genome.wustl.edu	37	9	115805792	115805792	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115805792C>A	ENST00000374227.3	-	4	1133	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	ZFP37_ENST00000553380.1_Missense_Mutation_p.R384I|ZFP37_ENST00000555206.1_Missense_Mutation_p.R370I	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTATGAATTCTTAGATGGTC	0.423																																						dbGAP											0													115.0	115.0	115.0					9																	115805792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1106G>T	9.37:g.115805792C>A	ENSP00000363344:p.Arg369Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R384I	ENST00000374227.3	37	c.1151	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914504	0.52546	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.02446	4.29;4.29;4.29	4.33	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000362	T	0.08846	0.0219	M	0.68593	2.085	0.47123	D	0.999326	D;D;D	0.63880	0.993;0.993;0.983	P;P;P	0.56474	0.672;0.672;0.799	T	0.05178	-1.0901	10	0.51188	T	0.08	-25.4142	10.7211	0.46040	0.0:0.9053:0.0:0.0947	.	370;384;369	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	I	369;370;384	ENSP00000363344:R369I;ENSP00000451310:R370I;ENSP00000452552:R384I	ENSP00000363344:R369I	R	-	2	0	ZFP37	114845613	0.001000	0.12720	0.993000	0.49108	0.969000	0.65631	0.013000	0.13310	1.423000	0.47198	0.655000	0.94253	AGA	ZFP37	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000136866		0.423	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	116	0.00	0	C	NM_003408		115805792	115805792	-1	no_errors	ENST00000553380	ensembl	human	known	69_37n	missense	105	16.67	21	SNP	1.000	A
ZFP64	55734	genome.wustl.edu	37	20	50769369	50769369	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:50769369C>A	ENST00000216923.4	-	6	1711	c.1362G>T	c.(1360-1362)aaG>aaT	p.K454N	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.K452N|ZFP64_ENST00000346617.4_Missense_Mutation_p.K400N	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGTCCGAGTTCTTACTCTCAC	0.597																																						dbGAP											0													74.0	54.0	60.0					20																	50769369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1362G>T	20.37:g.50769369C>A	ENSP00000216923:p.Lys454Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K454N	ENST00000216923.4	37	c.1362	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583012	0.13749	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07908	3.15;3.19;3.15	5.48	4.53	0.55603	.	0.093533	0.46145	D	0.000318	T	0.05640	0.0148	L	0.27053	0.805	0.09310	N	1	B;B;B	0.33748	0.423;0.003;0.003	B;B;B	0.27380	0.079;0.002;0.002	T	0.31392	-0.9945	10	0.51188	T	0.08	-24.1413	8.5376	0.33373	0.1267:0.7409:0.0:0.1324	.	400;452;454	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	N	454;400;452;296;607	ENSP00000216923:K454N;ENSP00000344615:K400N;ENSP00000360570:K452N	ENSP00000216923:K454N	K	-	3	2	ZFP64	50202776	0.995000	0.38212	0.880000	0.34516	0.130000	0.20726	1.459000	0.35234	2.572000	0.86782	0.585000	0.79938	AAG	ZFP64	-	NULL	ENSG00000020256		0.597	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	45	0.00	0	C	NM_018197		50769369	50769369	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	0.043	A
ZFYVE16	9765	genome.wustl.edu	37	5	79733801	79733801	+	Missense_Mutation	SNP	C	C	A	rs373884175		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79733801C>A	ENST00000338008.5	+	3	1477	c.1297C>A	c.(1297-1299)Ctt>Att	p.L433I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L433I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L433I	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	433					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGAGAATGATCTTTTGAAACA	0.363																																					Melanoma(150;1452 1854 16018 17851 37292)	dbGAP											0													51.0	50.0	50.0					5																	79733801		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.1297C>A	5.37:g.79733801C>A	ENSP00000337159:p.Leu433Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.L433I	ENST00000338008.5	37	c.1297	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597655	0.28445	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.43294	0.95;0.95;0.95	5.23	3.35	0.38373	.	0.388807	0.22074	N	0.064983	T	0.39358	0.1075	L	0.32530	0.975	0.09310	N	1	D;D	0.56521	0.972;0.976	P;P	0.54100	0.742;0.703	T	0.14531	-1.0469	10	0.22706	T	0.39	-10.0403	8.3548	0.32324	0.0:0.7307:0.0:0.2693	.	433;433	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	I	433	ENSP00000337159:L433I;ENSP00000423663:L433I;ENSP00000426848:L433I	ENSP00000337159:L433I	L	+	1	0	ZFYVE16	79769557	0.007000	0.16637	0.120000	0.21714	0.823000	0.46562	0.363000	0.20301	0.633000	0.30452	-0.367000	0.07326	CTT	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.363	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	39	0.00	0	C	NM_014733		79733801	79733801	+1	no_errors	ENST00000338008	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.332	A
ZFYVE16	9765	genome.wustl.edu	37	5	79741089	79741089	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:79741089T>C	ENST00000338008.5	+	6	2769	c.2589T>C	c.(2587-2589)tgT>tgC	p.C863C	ZFYVE16_ENST00000510158.1_Silent_p.C863C|ZFYVE16_ENST00000505560.1_Silent_p.C863C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	863					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAGGACTATGTTCCAAAGAAC	0.318																																					Melanoma(150;1452 1854 16018 17851 37292)	dbGAP											0													114.0	109.0	111.0					5																	79741089		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2589T>C	5.37:g.79741089T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	NULL	p.F4L	ENST00000338008.5	37	c.10	CCDS4050.1	5																																																																																			ZFYVE16	-	NULL	ENSG00000039319		0.318	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	293	0.00	0	T	NM_014733		79741089	79741089	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000507548	ensembl	human	known	69_37n	missense	248	13.24	38	SNP	0.910	C
ZFYVE20	64145	genome.wustl.edu	37	3	15115666	15115666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:15115666C>A	ENST00000253699.3	-	14	2591	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ZFYVE20_ENST00000476527.2_Nonsense_Mutation_p.E660*	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	660	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGATTGTACTCTTTCAGGATG	0.562																																						dbGAP											0													131.0	132.0	132.0					3																	15115666		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1978G>T	3.37:g.15115666C>A	ENSP00000253699:p.Glu660*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Nonsense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.E660*	ENST00000253699.3	37	c.1978	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.677837	0.98912	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	.	.	.	5.49	5.49	0.81192	.	0.046932	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1849	19.3737	0.94500	0.0:1.0:0.0:0.0	.	.	.	.	X	660	.	ENSP00000253699:E660X	E	-	1	0	ZFYVE20	15090670	1.000000	0.71417	0.449000	0.26957	0.036000	0.12997	7.813000	0.86123	2.578000	0.87016	0.591000	0.81541	GAG	ZFYVE20	-	NULL	ENSG00000131381		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	143	0.00	0	C	NM_022340		15115666	15115666	-1	no_errors	ENST00000253699	ensembl	human	known	69_37n	nonsense	124	14.48	21	SNP	1.000	A
ZHX1	11244	genome.wustl.edu	37	8	124267926	124267926	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:124267926A>G	ENST00000522655.1	-	3	801	c.261T>C	c.(259-261)ttT>ttC	p.F87F	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.F87F|ZHX1_ENST00000395571.3_Silent_p.F87F|ZHX1_ENST00000522595.1_5'UTR			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	87					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AATCCACATGAAAAGTAAACA	0.328																																						dbGAP											0													110.0	108.0	109.0					8																	124267926		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.261T>C	8.37:g.124267926A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWD8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F87	ENST00000522655.1	37	c.261	CCDS6342.1	8																																																																																			ZHX1	-	smart_Znf_C2H2-like	ENSG00000165156		0.328	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	215	0.00	0	A			124267926	124267926	-1	no_errors	ENST00000297857	ensembl	human	known	69_37n	silent	167	13.02	25	SNP	0.504	G
ZIM3	114026	genome.wustl.edu	37	19	57647189	57647189	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57647189A>G	ENST00000269834.1	-	5	901	c.516T>C	c.(514-516)tgT>tgC	p.C172C	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATAACTTTCTACAGGCATTAC	0.388																																						dbGAP											0													146.0	141.0	143.0					19																	57647189		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.516T>C	19.37:g.57647189A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C172	ENST00000269834.1	37	c.516	CCDS33125.1	19																																																																																			ZIM3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141946		0.388	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	229	0.00	0	A			57647189	57647189	-1	no_errors	ENST00000269834	ensembl	human	known	69_37n	silent	183	29.07	75	SNP	0.412	G
ZKSCAN1	7586	genome.wustl.edu	37	7	99631651	99631651	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99631651G>A	ENST00000324306.6	+	6	1757	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R295Q|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R472Q	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATTTTGCATCGGAGAATTCAC	0.488																																						dbGAP											0													65.0	68.0	67.0					7																	99631651		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1523G>A	7.37:g.99631651G>A	ENSP00000323148:p.Arg508Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R508Q	ENST00000324306.6	37	c.1523	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	G	9.799	1.179994	0.21787	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.43294	0.95;0.95;0.95	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000097	T	0.12944	0.0314	N	0.02876	-0.465	0.34048	D	0.655771	P	0.39903	0.694	B	0.30572	0.117	T	0.33929	-0.9849	10	0.02654	T	1	.	9.4791	0.38889	0.0944:0.0:0.9056:0.0	.	508	P17029	ZKSC1_HUMAN	Q	508;472;295	ENSP00000323148:R508Q;ENSP00000409172:R472Q;ENSP00000443508:R295Q	ENSP00000323148:R508Q	R	+	2	0	ZKSCAN1	99469587	0.031000	0.19500	1.000000	0.80357	0.998000	0.95712	0.523000	0.22925	2.743000	0.94032	0.563000	0.77884	CGG	ZKSCAN1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000106261		0.488	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	97	0.00	0	G	NM_003439		99631651	99631651	+1	no_errors	ENST00000324306	ensembl	human	known	69_37n	missense	94	21.67	26	SNP	1.000	A
ZMAT1	84460	genome.wustl.edu	37	X	101139682	101139682	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:101139682C>A	ENST00000372782.3	-	7	764	c.717G>T	c.(715-717)aaG>aaT	p.K239N	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K68N|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K239N	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	239						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAAACAAGTCTTGGCCTCTA	0.413																																						dbGAP											0													204.0	179.0	187.0					X																	101139682		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.717G>T	X.37:g.101139682C>A	ENSP00000361868:p.Lys239Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.K239N	ENST00000372782.3	37	c.717	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	6.493	0.459231	0.12342	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.32515	2.11;2.11;1.45	4.37	-0.626	0.11544	.	1.295230	0.05349	N	0.531531	T	0.24084	0.0583	L	0.48877	1.53	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31806	-0.9930	10	0.54805	T	0.06	1.9335	1.2818	0.02042	0.2598:0.403:0.1511:0.1861	.	239	Q5H9K5	ZMAT1_HUMAN	N	239;239;68	ENSP00000361868:K239N;ENSP00000437529:K239N;ENSP00000413044:K68N	ENSP00000361868:K239N	K	-	3	2	ZMAT1	101026338	0.001000	0.12720	0.000000	0.03702	0.479000	0.33129	-0.083000	0.11286	-0.289000	0.09038	-0.508000	0.04489	AAG	ZMAT1	-	NULL	ENSG00000166432		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	413	0.00	0	C			101139682	101139682	-1	no_errors	ENST00000372782	ensembl	human	known	69_37n	missense	315	14.17	52	SNP	0.000	A
ZMAT2	153527	genome.wustl.edu	37	5	140080490	140080490	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:140080490G>T	ENST00000274712.3	+	2	232	c.105G>T	c.(103-105)aaG>aaT	p.K35N		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	35						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAGAAAAGAAAGATGGTG	0.512																																						dbGAP											0													78.0	81.0	80.0					5																	140080490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.105G>T	5.37:g.140080490G>T	ENSP00000274712:p.Lys35Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,pfam_Znf_U1-C,smart_Znf_U1	p.K35N	ENST00000274712.3	37	c.105	CCDS4239.1	5	.	.	.	.	.	.	.	.	.	.	g	15.42	2.826913	0.50739	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.98	3.98	0.46160	.	0.116754	0.64402	D	0.000003	T	0.53818	0.1820	L	0.46157	1.445	0.50813	D	0.999891	B	0.02656	0.0	B	0.06405	0.002	T	0.53627	-0.8412	9	0.45353	T	0.12	-22.2683	11.938	0.52884	0.1822:0.0:0.8178:0.0	.	35	Q96NC0	ZMAT2_HUMAN	N	35	.	ENSP00000274712:K35N	K	+	3	2	ZMAT2	140060674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.422000	0.52749	1.542000	0.49330	0.591000	0.81541	AAG	ZMAT2	-	NULL	ENSG00000146007		0.512	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT2	HGNC	protein_coding	OTTHUMT00000468143.1	420	0.00	0	G	NM_144723		140080490	140080490	+1	no_errors	ENST00000274712	ensembl	human	known	69_37n	missense	219	24.05	70	SNP	1.000	T
ZMYM2	7750	genome.wustl.edu	37	13	20567402	20567402	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:20567402G>A	ENST00000382874.2	+	4	380	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ZMYM2_ENST00000382881.3_Missense_Mutation_p.E64K|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E64K|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E64K	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGTTTTTATCGAACCTGTACA	0.378																																						dbGAP											0													100.0	92.0	95.0					13																	20567402		1961	4163	6124	-	-	-	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.190G>A	13.37:g.20567402G>A	ENSP00000372327:p.Glu64Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.E64K	ENST00000382874.2	37	c.190	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626925	0.87560	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.16	5.16	0.70880	.	0.193775	0.35903	N	0.002912	T	0.58850	0.2151	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.991;0.991;0.997	T	0.60151	-0.7319	10	0.62326	D	0.03	-0.0487	19.0049	0.92846	0.0:0.0:1.0:0.0	.	64;64;64	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	K	64	ENSP00000372322:E64K;ENSP00000372334:E64K;ENSP00000372327:E64K;ENSP00000372324:E64K	ENSP00000372322:E64K	E	+	1	0	ZMYM2	19465402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.559000	0.86315	0.655000	0.94253	GAA	ZMYM2	-	NULL	ENSG00000121741		0.378	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	221	0.00	0	G	NM_003453		20567402	20567402	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	missense	169	23.87	53	SNP	1.000	A
ZMYM2	7750	genome.wustl.edu	37	13	20600786	20600786	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:20600786G>A	ENST00000382874.2	+	9	1809	c.1619G>A	c.(1618-1620)cGa>cAa	p.R540Q	ZMYM2_ENST00000382869.3_Missense_Mutation_p.R540Q|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R540Q|ZMYM2_ENST00000382883.3_Missense_Mutation_p.R22Q	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACTGGTTGCCGAACACAGTGC	0.318																																						dbGAP											0													56.0	51.0	52.0					13																	20600786		1817	4071	5888	-	-	-	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.1619G>A	13.37:g.20600786G>A	ENSP00000372327:p.Arg540Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R540Q	ENST00000382874.2	37	c.1619	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008015	0.54361	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883	T;T;T;T	0.49720	2.17;2.17;2.17;0.77	5.43	5.43	0.79202	Zinc finger, MYM-type (1);	0.052103	0.85682	D	0.000000	T	0.29491	0.0735	N	0.14661	0.345	0.39669	D	0.970726	D	0.53745	0.962	B	0.38264	0.269	T	0.30765	-0.9967	10	0.72032	D	0.01	-7.5547	12.5657	0.56308	0.0759:0.0:0.9241:0.0	.	540	Q9UBW7	ZMYM2_HUMAN	Q	540;540;540;540;22	ENSP00000372322:R540Q;ENSP00000372327:R540Q;ENSP00000372324:R540Q;ENSP00000372336:R22Q	ENSP00000372322:R540Q	R	+	2	0	ZMYM2	19498786	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	4.888000	0.63164	2.543000	0.85770	0.650000	0.86243	CGA	ZMYM2	-	pfam_Znf_MYM	ENSG00000121741		0.318	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	106	0.00	0	G	NM_003453		20600786	20600786	+1	no_errors	ENST00000382869	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	1.000	A
ZMYM3	9203	genome.wustl.edu	37	X	70460695	70460695	+	3'UTR	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70460695C>T	ENST00000353904.2	-	0	4371				ZMYM3_ENST00000373998.1_3'UTR|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_3'UTR|ZMYM3_ENST00000373988.1_3'UTR|ZMYM3_ENST00000373984.3_3'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGTTCCTGGGCCTGTCACCCT	0.552																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.*71G>A	X.37:g.70460695C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	RNA	SNP	-	NULL	ENST00000353904.2	37	NULL	CCDS14409.1	X																																																																																			ZMYM3	-	-	ENSG00000147130		0.552	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	85	0.00	0	C	NM_201599		70460695	70460695	-1	no_errors	ENST00000489332	ensembl	human	known	69_37n	rna	71	20.22	18	SNP	0.957	T
ZMYM3	9203	genome.wustl.edu	37	X	70469955	70469955	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:70469955G>A	ENST00000353904.2	-	6	1359	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	ZMYM3_ENST00000373998.1_Missense_Mutation_p.A391V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Missense_Mutation_p.A391V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A391V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A393V|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P295S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A393V|ZMYM3_ENST00000373982.1_Missense_Mutation_p.A393V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	391					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCTGCTGGGCCTCATACAG	0.612																																						dbGAP											0													64.0	55.0	58.0					X																	70469955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1172C>T	X.37:g.70469955G>A	ENSP00000343909:p.Ala391Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.A393V	ENST00000353904.2	37	c.1178	CCDS14409.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.97|14.97	2.695748|2.695748	0.48202|0.48202	.|.	.|.	ENSG00000147130|ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981|ENST00000373978	T;T;T;T;T;T;T|.	0.49139|.	1.44;0.86;1.44;1.44;1.44;0.79;0.79|.	4.26|4.26	4.26|4.26	0.50523|0.50523	TRASH (1);|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.62405|0.62405	0.2425|0.2425	L|L	0.44542|0.44542	1.39|1.39	0.37763|0.37763	D|D	0.926397|0.926397	D;D;D;D|.	0.69078|.	0.997;0.997;0.988;0.979|.	D;D;P;P|.	0.75020|.	0.985;0.985;0.77;0.593|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|6	0.29301|0.44086	T|T	0.29|0.13	-11.9565|-11.9565	16.0762|16.0762	0.80969|0.80969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393;391;391;391|.	A6NL54;Q96E26;Q14202-2;Q14202|.	.;.;.;ZMYM3_HUMAN|.	V|S	391;391;391;393;393;393;391|295	ENSP00000322845:A391V;ENSP00000363110:A391V;ENSP00000343909:A391V;ENSP00000363096:A393V;ENSP00000363100:A393V;ENSP00000363094:A393V;ENSP00000363093:A391V|.	ENSP00000322845:A391V|ENSP00000363090:P295S	A|P	-|-	2|1	0|0	ZMYM3|ZMYM3	70386680|70386680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	5.059000|5.059000	0.64306|0.64306	1.957000|1.957000	0.56846|0.56846	0.468000|0.468000	0.43344|0.43344	GCC|CCC	ZMYM3	-	smart_TRASH	ENSG00000147130		0.612	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	221	0.00	0	G	NM_201599		70469955	70469955	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	missense	108	24.66	36	SNP	1.000	A
ZMYM5	9205	genome.wustl.edu	37	13	20412858	20412858	+	Missense_Mutation	SNP	C	C	T	rs114493699		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr13:20412858C>T	ENST00000337963.4	-	5	1118	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R285Q	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	285						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R285Q(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATTATGCTTCGTGTGTTTTG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19863	0.001		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	large_intestine(2)											156.0	144.0	148.0					13																	20412858		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.854G>A	13.37:g.20412858C>T	ENSP00000337034:p.Arg285Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	pfam_Znf_MYM,smart_TRASH	p.R285Q	ENST00000337963.4	37	c.854		13	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.486	0.861004	0.17178	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	T;T;T	0.22743	2.27;2.27;1.94	4.68	-0.87	0.10646	.	0.460476	0.24443	N	0.038492	T	0.09862	0.0242	N	0.25485	0.75	0.25346	N	0.988904	B;B	0.13145	0.002;0.007	B;B	0.10450	0.002;0.005	T	0.30679	-0.9970	10	0.14252	T	0.57	-0.0124	4.4145	0.11450	0.249:0.3746:0.0:0.3764	.	285;285	Q9UJ78;Q9UJ78-1	ZMYM5_HUMAN;.	Q	285;275;285	ENSP00000337034:R285Q;ENSP00000445779:R275Q;ENSP00000372361:R285Q	ENSP00000337034:R285Q	R	-	2	0	ZMYM5	19310858	1.000000	0.71417	0.060000	0.19600	0.612000	0.37316	1.086000	0.30853	-0.022000	0.13986	-1.069000	0.02264	CGA	ZMYM5	-	NULL	ENSG00000132950		0.383	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	ZMYM5	HGNC	protein_coding		288	0.35	1	C	NM_014242		20412858	20412858	-1	no_errors	ENST00000337963	ensembl	human	known	69_37n	missense	263	24.36	85	SNP	0.997	T
ZMYM6	9204	genome.wustl.edu	37	1	35454132	35454132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:35454132C>A	ENST00000357182.4	-	16	2778	c.2551G>T	c.(2551-2553)Gaa>Taa	p.E851*	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	851					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ttaattaattcttcagcaatg	0.318																																						dbGAP											0													15.0	15.0	15.0					1																	35454132		1158	2540	3698	-	-	-	SO:0001587	stop_gained	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2551G>T	1.37:g.35454132C>A	ENSP00000349708:p.Glu851*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.E851*	ENST00000357182.4	37	c.2551	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	C	37	6.555225	0.97658	.	.	ENSG00000163867	ENST00000357182	.	.	.	3.41	3.41	0.39046	.	0.207171	0.39759	N	0.001262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.7037	10.6435	0.45606	0.0:1.0:0.0:0.0	.	.	.	.	X	851	.	ENSP00000349708:E851X	E	-	1	0	ZMYM6	35226719	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.309000	0.43699	2.188000	0.69820	0.655000	0.94253	GAA	ZMYM6	-	NULL	ENSG00000163867		0.318	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	8	0.00	0	C	NM_007167		35454132	35454132	-1	no_errors	ENST00000357182	ensembl	human	known	69_37n	nonsense	4	50.00	4	SNP	1.000	A
ZMYND10	51364	genome.wustl.edu	37	3	50379984	50379984	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:50379984G>A	ENST00000231749.3	-	8	1989	c.717C>T	c.(715-717)ttC>ttT	p.F239F	ZMYND10_ENST00000360165.3_Silent_p.F234F|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	239					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGCTGCCCTCGAACTGCTGCA	0.592										TSP Lung(30;0.18)																												dbGAP											0													55.0	48.0	51.0					3																	50379984		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.717C>T	3.37:g.50379984G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Silent	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.F239	ENST00000231749.3	37	c.717	CCDS2825.1	3																																																																																			ZMYND10	-	pirsf_UCP037948_Znf-MYND	ENSG00000004838		0.592	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	60	0.00	0	G	NM_015896		50379984	50379984	-1	no_errors	ENST00000231749	ensembl	human	known	69_37n	silent	36	21.28	10	SNP	1.000	A
ZMYND12	84217	genome.wustl.edu	37	1	42915675	42915675	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:42915675G>A	ENST00000372565.3	-	2	435	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	ZMYND12_ENST00000433602.2_Missense_Mutation_p.A3V	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	56						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAATCAAGAGCTGACATATT	0.507																																						dbGAP											0													137.0	119.0	125.0					1																	42915675		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.166C>T	1.37:g.42915675G>A	ENSP00000361646:p.Leu56Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.L56F	ENST00000372565.3	37	c.166	CCDS467.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.522533|4.522533	0.85600|0.85600	.|.	.|.	ENSG00000066185|ENSG00000066185	ENST00000433602|ENST00000372565	T|T	0.57595|0.51817	0.39|0.69	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70894|0.70894	0.3276|0.3276	M|M	0.80616|0.80616	2.505|2.505	0.26409|0.26409	N|N	0.976296|0.976296	P|D	0.39282|0.71674	0.666|0.998	P|D	0.44811|0.83275	0.461|0.996	T|T	0.66324|0.66324	-0.5952|-0.5952	9|10	0.87932|0.59425	D|D	0|0.04	-13.2262|-13.2262	16.8089|16.8089	0.85713|0.85713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3|56	E9PFV0|Q9H0C1	.|ZMY12_HUMAN	V|F	3|56	ENSP00000398340:A3V|ENSP00000361646:L56F	ENSP00000398340:A3V|ENSP00000361646:L56F	A|L	-|-	2|1	0|0	ZMYND12|ZMYND12	42688262|42688262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	4.228000|4.228000	0.58619|0.58619	2.575000|2.575000	0.86900|0.86900	0.313000|0.313000	0.20887|0.20887	GCT|CTC	ZMYND12	-	NULL	ENSG00000066185		0.507	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	166	0.00	0	G	NM_032257		42915675	42915675	-1	no_errors	ENST00000372565	ensembl	human	known	69_37n	missense	44	41.56	32	SNP	1.000	A
ZMYND8	23613	genome.wustl.edu	37	20	45867686	45867686	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45867686C>T	ENST00000311275.7	-	15	2674	c.2421G>A	c.(2419-2421)ccG>ccA	p.P807P	ZMYND8_ENST00000540497.1_Silent_p.P755P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000262975.4_Silent_p.P807P|ZMYND8_ENST00000352431.2_Silent_p.P827P|ZMYND8_ENST00000446994.2_Silent_p.P744P|ZMYND8_ENST00000536340.1_Silent_p.P834P|ZMYND8_ENST00000360911.3_Silent_p.P802P|ZMYND8_ENST00000461685.1_Silent_p.P827P|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Silent_p.P807P|ZMYND8_ENST00000471951.2_Silent_p.P827P|ZMYND8_ENST00000355972.4_Silent_p.P807P|ZMYND8_ENST00000372023.3_Silent_p.P802P	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	807					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CAGTCTCCTTCGGTAAAAGCG	0.627																																						dbGAP											0													58.0	71.0	67.0					20																	45867686		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2421G>A	20.37:g.45867686C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.E735K	ENST00000311275.7	37	c.2203		20	.	.	.	.	.	.	.	.	.	.	C	9.049	0.991566	0.18966	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.71	3.66	0.41972	.	.	.	.	.	T	0.44371	0.1290	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42548	-0.9445	4	.	.	.	-0.3243	1.5598	0.02593	0.3268:0.3879:0.1133:0.172	.	.	.	.	K	735	.	.	E	-	1	0	ZMYND8	45301093	0.999000	0.42202	1.000000	0.80357	0.852000	0.48524	0.508000	0.22692	1.413000	0.46997	0.591000	0.81541	GAA	ZMYND8	-	NULL	ENSG00000101040		0.627	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	47	0.00	0	C	NM_183047		45867686	45867686	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467200	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.995	T
ZMYND8	23613	genome.wustl.edu	37	20	45938915	45938915	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45938915C>A	ENST00000311275.7	-	3	312	c.59G>T	c.(58-60)aGa>aTa	p.R20I	RN7SL243P_ENST00000582058.1_RNA|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R40I|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R40I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R20I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R40I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R20I|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R47I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R40I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R40I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R45I|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R40I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R20I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R40I	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	20					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GGGGAACTTTCTTTTCTGGGC	0.517																																						dbGAP											0													131.0	135.0	134.0					20																	45938915		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.59G>T	20.37:g.45938915C>A	ENSP00000312237:p.Arg20Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.R47I	ENST00000311275.7	37	c.140		20	.	.	.	.	.	.	.	.	.	.	C	34	5.409417	0.96072	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836;ENST00000446894;ENST00000441977	T;D;T;D;T;T;T;T;D;D;T;T;T;D	0.95885	0.88;-2.05;0.88;-2.08;0.97;0.97;0.88;0.97;-2.06;-2.79;0.97;0.88;0.88;-3.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.96411	0.8829	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.998;0.999;1.0;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.998;0.999;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.997;0.998;0.999;0.999;0.982;0.999;0.999;0.998;0.999;0.998;0.997;0.996;0.959;0.998	D	0.97199	0.9863	10	0.87932	D	0	-4.9825	19.5283	0.95215	0.0:1.0:0.0:0.0	.	40;47;40;40;40;39;40;20;40;40;40;20;20;40;40;40;40;45	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	I	40;20;40;20;40;40;45;47;20;20;40;40;40;20;20;20	ENSP00000354166:R40I;ENSP00000312237:R20I;ENSP00000392964:R40I;ENSP00000262975:R20I;ENSP00000420095:R40I;ENSP00000335537:R40I;ENSP00000379577:R45I;ENSP00000439800:R47I;ENSP00000348246:R20I;ENSP00000396725:R20I;ENSP00000418210:R40I;ENSP00000361093:R40I;ENSP00000443086:R40I;ENSP00000413727:R20I	ENSP00000262975:R20I	R	-	2	0	ZMYND8	45372322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.392000	0.79840	2.596000	0.87737	0.655000	0.94253	AGA	ZMYND8	-	NULL	ENSG00000101040		0.517	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	266	0.00	0	C	NM_183047		45938915	45938915	-1	no_errors	ENST00000536340	ensembl	human	known	69_37n	missense	144	25.26	49	SNP	1.000	A
ZNF101	94039	genome.wustl.edu	37	19	19790823	19790823	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:19790823A>C	ENST00000592502.1	+	4	1135	c.1025A>C	c.(1024-1026)aAa>aCa	p.K342T	ZNF101_ENST00000415784.2_Missense_Mutation_p.K222T|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAATGTAATAAATGTGGTAAA	0.378																																						dbGAP											0													58.0	58.0	58.0					19																	19790823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1025A>C	19.37:g.19790823A>C	ENSP00000468049:p.Lys342Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JU83|Q0VDG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K342T	ENST00000592502.1	37	c.1025	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	A	8.088	0.773944	0.16051	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.19532	2.14;2.14	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.11201	0.11	0.09310	N	1	P	0.39216	0.664	B	0.38562	0.276	T	0.25745	-1.0123	8	.	.	.	.	4.8392	0.13481	0.9998:0.0:2.0E-4:0.0	.	342	Q8IZC7	ZN101_HUMAN	T	342;342;222	ENSP00000319716:K342T;ENSP00000400952:K222T	.	K	+	2	0	ZNF101	19651823	0.000000	0.05858	0.460000	0.27093	0.456000	0.32438	0.838000	0.27572	0.263000	0.21812	0.260000	0.18958	AAA	ZNF101	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181896		0.378	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	111	0.00	0	A	NM_033204		19790823	19790823	+1	no_errors	ENST00000318110	ensembl	human	known	69_37n	missense	111	26.97	41	SNP	0.063	C
ZNF117	51351	genome.wustl.edu	37	7	64438619	64438619	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:64438619G>C	ENST00000282869.6	-	4	2614	c.1330C>G	c.(1330-1332)Ccc>Gcc	p.P444A		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	444					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATTTGTAGGGTTTCTCTCCA	0.358																																						dbGAP											0													64.0	68.0	67.0					7																	64438619		2133	4267	6400	-	-	-	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1330C>G	7.37:g.64438619G>C	ENSP00000282869:p.Pro444Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P444A	ENST00000282869.6	37	c.1330	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	6.868	0.529489	0.13127	.	.	ENSG00000152926	ENST00000282869	T	0.16457	2.34	1.1	0.0493	0.14289	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20659	0.0497	M	0.77103	2.36	0.23572	N	0.997382	B	0.30482	0.281	B	0.33392	0.163	T	0.26224	-1.0109	9	0.72032	D	0.01	.	5.2937	0.15741	0.2261:0.0:0.7739:0.0	.	444	Q03924	ZN117_HUMAN	A	444	ENSP00000282869:P444A	ENSP00000282869:P444A	P	-	1	0	ZNF117	64076054	0.968000	0.33430	0.003000	0.11579	0.005000	0.04900	2.958000	0.49145	-0.300000	0.08895	-0.674000	0.03794	CCC	ZNF117	-	pfscan_Znf_C2H2	ENSG00000152926		0.358	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3	121	0.00	0	G	NM_024498		64438619	64438619	-1	no_errors	ENST00000282869	ensembl	human	known	69_37n	missense	95	15.04	17	SNP	0.880	C
ZNF133	7692	genome.wustl.edu	37	20	18296602	18296602	+	Silent	SNP	C	C	A	rs566035736		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:18296602C>A	ENST00000316358.4	+	4	1204	c.1107C>A	c.(1105-1107)ctC>ctA	p.L369L	RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Silent_p.L372L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Silent_p.L274L|ZNF133_ENST00000538547.1_Silent_p.L274L|ZNF133_ENST00000401790.1_Silent_p.L369L|ZNF133_ENST00000402618.2_Silent_p.L306L|ZNF133_ENST00000377671.3_Silent_p.L368L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	369					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGTCAAACCTCATCTCCCACC	0.592																																						dbGAP											0													66.0	61.0	63.0					20																	18296602		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1107C>A	20.37:g.18296602C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L372	ENST00000316358.4	37	c.1116		20																																																																																			ZNF133	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.592	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	169	0.00	0	C	NM_003434		18296602	18296602	+1	no_errors	ENST00000396026	ensembl	human	known	69_37n	silent	139	14.72	24	SNP	0.985	A
ZNF140	7699	genome.wustl.edu	37	12	133683077	133683077	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:133683077G>T	ENST00000355557.2	+	5	2497	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I	ZNF140_ENST00000544426.1_Missense_Mutation_p.R302I|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTACATCAGAGAACTCATACT	0.443																																						dbGAP											0													84.0	85.0	85.0					12																	133683077		2203	4299	6502	-	-	-	SO:0001583	missense	0			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1214G>T	12.37:g.133683077G>T	ENSP00000347755:p.Arg405Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R405I	ENST00000355557.2	37	c.1214	CCDS9282.1	12	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991808	0.35131	.	.	ENSG00000196387	ENST00000355557;ENST00000544426;ENST00000433577	T;T	0.24908	1.83;1.83	3.85	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.479406	0.15761	N	0.245957	T	0.19725	0.0474	L	0.46885	1.475	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06625	-1.0816	10	0.46703	T	0.11	.	6.2407	0.20789	0.1432:0.0:0.5294:0.3275	.	405	P52738	ZN140_HUMAN	I	405;302;196	ENSP00000347755:R405I;ENSP00000445411:R302I	ENSP00000347755:R405I	R	+	2	0	ZNF140	132193150	0.000000	0.05858	1.000000	0.80357	0.809000	0.45718	0.807000	0.27140	0.683000	0.31428	0.563000	0.77884	AGA	ZNF140	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196387		0.443	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF140	HGNC	protein_coding	OTTHUMT00000397169.1	215	0.00	0	G	NM_003440		133683077	133683077	+1	no_errors	ENST00000355557	ensembl	human	known	69_37n	missense	137	25.54	47	SNP	1.000	T
ZNF154	7710	genome.wustl.edu	37	19	58213187	58213187	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58213187C>A	ENST00000512439.2	-	3	1326	c.1130G>T	c.(1129-1131)aGa>aTa	p.R377I	ZNF154_ENST00000426889.1_Missense_Mutation_p.R377I|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAACTCTCTGGTGTTT	0.502																																						dbGAP											0													82.0	87.0	85.0					19																	58213187		2199	4299	6498	-	-	-	SO:0001583	missense	0			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.1130G>T	19.37:g.58213187C>A	ENSP00000421258:p.Arg377Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R377I	ENST00000512439.2	37	c.1130	CCDS42639.1	19	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534644	0.45073	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.02446	4.29;4.29	2.99	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09905	0.0243	M	0.62266	1.93	0.40796	D	0.983291	D	0.89917	1.0	D	0.73380	0.98	T	0.04128	-1.0975	9	0.59425	D	0.04	.	8.2697	0.31836	0.0:0.874:0.0:0.126	.	377	Q13106	ZN154_HUMAN	I	377	ENSP00000421258:R377I;ENSP00000442370:R377I	ENSP00000442370:R377I	R	-	2	0	ZNF154	62904999	0.000000	0.05858	0.049000	0.19019	0.481000	0.33189	-0.313000	0.08103	0.838000	0.34948	0.561000	0.74099	AGA	ZNF154	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179909		0.502	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF154	HGNC	protein_coding	OTTHUMT00000277102.2	244	0.00	0	C			58213187	58213187	-1	no_errors	ENST00000426889	ensembl	human	known	69_37n	missense	202	11.35	26	SNP	0.798	A
ZKSCAN7	55888	genome.wustl.edu	37	3	44612566	44612566	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44612566G>T	ENST00000273320.3	+	6	2393	c.1964G>T	c.(1963-1965)aGa>aTa	p.R655I	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R655I|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	655					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)										ATACACCAGAGAATTCACACT	0.423																																						dbGAP											0													67.0	70.0	69.0					3																	44612566		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1964G>T	3.37:g.44612566G>T	ENSP00000273320:p.Arg655Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R655I	ENST00000273320.3	37	c.1964	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	18.69	3.677256	0.68042	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.24908	1.83;1.83	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002826	T	0.53110	0.1776	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60737	-0.7204	10	0.66056	D	0.02	-11.2884	15.5027	0.75713	0.0:0.0:1.0:0.0	.	655	Q9P0L1	ZN167_HUMAN	I	655;655;93	ENSP00000395524:R655I;ENSP00000273320:R655I	ENSP00000273320:R655I	R	+	2	0	ZNF167	44587570	0.823000	0.29233	1.000000	0.80357	0.998000	0.95712	1.695000	0.37763	2.179000	0.69175	0.655000	0.94253	AGA	ZNF167	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196345		0.423	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF167	HGNC	protein_coding	OTTHUMT00000256752.4	114	0.00	0	G	NM_018651		44612566	44612566	+1	no_errors	ENST00000273320	ensembl	human	known	69_37n	missense	186	12.68	27	SNP	1.000	T
ZKSCAN7	55888	genome.wustl.edu	37	3	44612760	44612760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44612760G>T	ENST00000273320.3	+	6	2587	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.E720*|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	720					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)										GAAACCTTATGAATGTAGTGA	0.458																																						dbGAP											0													107.0	105.0	105.0					3																	44612760		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2158G>T	3.37:g.44612760G>T	ENSP00000273320:p.Glu720*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E720*	ENST00000273320.3	37	c.2158	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	39	7.909259	0.98557	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	.	.	.	4.2	3.23	0.37069	.	0.000000	0.33980	N	0.004377	.	.	.	.	.	.	0.39871	D	0.973503	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-9.4696	2.0071	0.03480	0.1174:0.1993:0.4765:0.2068	.	.	.	.	X	720;720;158	.	ENSP00000273320:E720X	E	+	1	0	ZNF167	44587764	0.000000	0.05858	0.990000	0.47175	0.988000	0.76386	-0.008000	0.12788	2.179000	0.69175	0.655000	0.94253	GAA	ZNF167	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196345		0.458	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF167	HGNC	protein_coding	OTTHUMT00000256752.4	176	0.00	0	G	NM_018651		44612760	44612760	+1	no_errors	ENST00000273320	ensembl	human	known	69_37n	nonsense	200	26.10	71	SNP	0.681	T
ZNF177	7730	genome.wustl.edu	37	19	9492173	9492173	+	Missense_Mutation	SNP	C	C	T	rs552988505		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9492173C>T	ENST00000589262.1	+	6	1232	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000541595.2_Missense_Mutation_p.S229F|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.S229F|ZNF177_ENST00000434737.2_Missense_Mutation_p.S389F|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.S229F	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	389					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CACACACGCTCTCACACTGGA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		22590	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													175.0	175.0	175.0					19																	9492173		2203	4300	6503	-	-	-	SO:0001583	missense	0			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1166C>T	19.37:g.9492173C>T	ENSP00000468531:p.Ser389Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S389F	ENST00000589262.1	37	c.1166	CCDS54214.1	19	.	.	.	.	.	.	.	.	.	.	C	4.918	0.170561	0.09391	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.01152	5.26;5.26;5.26	2.49	0.307	0.15811	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01156	0.0038	L	0.33485	1.01	0.26232	N	0.978995	B;B	0.28850	0.14;0.225	B;B	0.29663	0.105;0.105	T	0.37103	-0.9720	8	0.72032	D	0.01	.	5.3742	0.16156	0.0:0.6599:0.2096:0.1305	.	389;229	B4DY57;Q13360	.;ZN177_HUMAN	F	229;229;389	ENSP00000445323:S229F;ENSP00000341497:S229F;ENSP00000415070:S389F	ENSP00000341497:S229F	S	+	2	0	ZNF177	9353173	0.000000	0.05858	0.124000	0.21820	0.346000	0.29079	-0.308000	0.08156	0.155000	0.19261	-0.257000	0.10917	TCT	ZNF177	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188629		0.463	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	244	0.00	0	C	NM_003451		9492173	9492173	+1	no_errors	ENST00000434737	ensembl	human	known	69_37n	missense	167	13.02	25	SNP	0.308	T
ZNF177	7730	genome.wustl.edu	37	19	9492219	9492219	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9492219C>A	ENST00000589262.1	+	6	1278	c.1212C>A	c.(1210-1212)tcC>tcA	p.S404S	ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000541595.2_Silent_p.S244S|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Silent_p.S244S|ZNF177_ENST00000434737.2_Silent_p.S404S|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Silent_p.S244S	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	404					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GTGGAAAGTCCTTCAGCACAG	0.453																																						dbGAP											0													165.0	161.0	162.0					19																	9492219		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1212C>A	19.37:g.9492219C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S404	ENST00000589262.1	37	c.1212	CCDS54214.1	19																																																																																			ZNF177	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188629		0.453	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	256	0.00	0	C	NM_003451		9492219	9492219	+1	no_errors	ENST00000434737	ensembl	human	known	69_37n	silent	147	24.23	47	SNP	0.322	A
ZNF17	7565	genome.wustl.edu	37	19	57931006	57931006	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57931006G>C	ENST00000601808.1	+	3	359	c.146G>C	c.(145-147)tGt>tCt	p.C49S	AC003002.6_ENST00000596400.1_Missense_Mutation_p.C61S|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.C51S|ZNF17_ENST00000595206.1_3'UTR	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GTTTTAGGTTGTTGGCATGGA	0.468																																					Melanoma(149;1637 1853 29914 42869 44988)	dbGAP											0													68.0	66.0	67.0					19																	57931006		2201	4300	6501	-	-	-	SO:0001583	missense	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.146G>C	19.37:g.57931006G>C	ENSP00000471905:p.Cys49Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C49S	ENST00000601808.1	37	c.146	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	G	9.699	1.154098	0.21371	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.0	2.0	0.26442	Krueppel-associated box (3);	.	.	.	.	T	0.40067	0.1102	L	0.41236	1.265	0.19945	N	0.999949	D;B	0.65815	0.995;0.027	P;B	0.60068	0.868;0.002	T	0.17289	-1.0374	8	0.20046	T	0.44	.	7.5252	0.27652	0.0:0.0:1.0:0.0	.	51;49	P17021-2;P17021	.;ZNF17_HUMAN	S	49	.	ENSP00000302455:C49S	C	+	2	0	ZNF17	62622818	0.011000	0.17503	0.095000	0.20976	0.117000	0.20001	0.666000	0.25097	1.423000	0.47198	0.650000	0.86243	TGT	ZNF17	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000186272		0.468	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	197	0.00	0	G	NM_006959		57931006	57931006	+1	no_errors	ENST00000307658	ensembl	human	known	69_37n	missense	140	28.93	57	SNP	0.503	C
ZNF18	7566	genome.wustl.edu	37	17	11887496	11887496	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:11887496C>T	ENST00000322748.3	-	7	1289	c.685G>A	c.(685-687)Gat>Aat	p.D229N	ZNF18_ENST00000454073.3_Missense_Mutation_p.D229N|ZNF18_ENST00000580306.2_Missense_Mutation_p.D229N	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	229	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TGAGTGGAATCCAGTTGTCTC	0.448																																						dbGAP											0													113.0	93.0	100.0					17																	11887496		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.685G>A	17.37:g.11887496C>T	ENSP00000315664:p.Asp229Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D229N	ENST00000322748.3	37	c.685	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708458	0.30322	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.02525	4.26;4.26	4.39	2.39	0.29439	Krueppel-associated box (4);	0.144445	0.32068	N	0.006629	T	0.02342	0.0072	L	0.38175	1.15	0.32984	D	0.524086	B;B	0.31705	0.336;0.114	B;B	0.28385	0.051;0.089	T	0.37753	-0.9692	10	0.18710	T	0.47	-14.3966	8.0908	0.30799	0.0:0.7942:0.0:0.2058	.	229;229	P17022-2;P17022	.;ZNF18_HUMAN	N	229	ENSP00000391376:D229N;ENSP00000315664:D229N	ENSP00000315664:D229N	D	-	1	0	ZNF18	11828221	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.543000	0.36147	1.189000	0.43028	0.650000	0.86243	GAT	ZNF18	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000154957		0.448	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	168	0.00	0	C	XM_085596		11887496	11887496	-1	no_errors	ENST00000322748	ensembl	human	known	69_37n	missense	74	28.16	29	SNP	1.000	T
ZNF180	7733	genome.wustl.edu	37	19	44980740	44980740	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44980740C>T	ENST00000221327.4	-	5	2239	c.1958G>A	c.(1957-1959)aGa>aAa	p.R653K	ZNF180_ENST00000592529.1_Missense_Mutation_p.R626K|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R628K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTTTGATGCAC	0.368																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	dbGAP											0													127.0	128.0	127.0					19																	44980740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1958G>A	19.37:g.44980740C>T	ENSP00000221327:p.Arg653Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R653K	ENST00000221327.4	37	c.1958	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986613	0.74589	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.18338	2.22;2.22	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000455	T	0.15955	0.0384	N	0.20328	0.56	0.80722	D	1	B;B;B	0.28512	0.178;0.214;0.214	B;B;B	0.37198	0.157;0.243;0.243	T	0.08186	-1.0734	10	0.48119	T	0.1	-26.804	14.3922	0.66986	0.0:0.852:0.148:0.0	.	628;652;653	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	K	653;628	ENSP00000221327:R653K;ENSP00000375818:R628K	ENSP00000221327:R653K	R	-	2	0	ZNF180	49672580	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.120000	0.15647	2.738000	0.93877	0.591000	0.81541	AGA	ZNF180	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167384		0.368	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	332	0.00	0	C	NM_013256		44980740	44980740	-1	no_errors	ENST00000221327	ensembl	human	known	69_37n	missense	238	13.98	39	SNP	1.000	T
ZNF189	7743	genome.wustl.edu	37	9	104171636	104171636	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:104171636G>A	ENST00000339664.2	+	3	1715	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q|ZNF189_ENST00000374861.3_Missense_Mutation_p.R515Q	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	529					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AATCTTATTCGACATCAGGGT	0.423																																						dbGAP											0													97.0	96.0	96.0					9																	104171636		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1586G>A	9.37:g.104171636G>A	ENSP00000342019:p.Arg529Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R529Q	ENST00000339664.2	37	c.1586	CCDS6754.1	9	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088220	0.01873	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.36157	1.27;1.27;1.27	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.218087	0.23579	N	0.046668	T	0.27419	0.0673	L	0.53617	1.68	0.24354	N	0.994907	B;P;B	0.34826	0.294;0.471;0.294	B;B;B	0.32864	0.154;0.154;0.064	T	0.12811	-1.0533	10	0.11182	T	0.66	.	8.4196	0.32692	0.1025:0.0:0.8975:0.0	.	514;515;529	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	Q	515;529;487	ENSP00000363995:R515Q;ENSP00000342019:R529Q;ENSP00000259395:R487Q	ENSP00000259395:R487Q	R	+	2	0	ZNF189	103211457	0.000000	0.05858	1.000000	0.80357	0.870000	0.49936	-1.813000	0.01725	2.699000	0.92147	0.650000	0.86243	CGA	ZNF189	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000136870		0.423	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF189	HGNC	protein_coding	OTTHUMT00000053447.1	395	0.25	1	G	NM_003452		104171636	104171636	+1	no_errors	ENST00000339664	ensembl	human	known	69_37n	missense	206	30.64	91	SNP	0.855	A
ZNF197	10168	genome.wustl.edu	37	3	44673600	44673600	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44673600C>A	ENST00000396058.1	+	3	721	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	ZNF197_ENST00000383745.2_Missense_Mutation_p.S185Y|ZNF197_ENST00000344387.4_Missense_Mutation_p.S185Y|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Missense_Mutation_p.S185Y			O14709	ZN197_HUMAN	zinc finger protein 197	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCCTCAGATTCTCCTGCCCCT	0.478																																						dbGAP											0													186.0	188.0	187.0					3																	44673600		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.554C>A	3.37:g.44673600C>A	ENSP00000379370:p.Ser185Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S185Y	ENST00000396058.1	37	c.554	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174207	0.38413	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.06768	5.59;3.26;5.59;3.26	5.55	2.56	0.30785	.	0.622661	0.13401	N	0.390602	T	0.10294	0.0252	L	0.27053	0.805	0.21697	N	0.999583	P;B	0.49447	0.924;0.303	P;B	0.48030	0.564;0.305	T	0.19910	-1.0291	10	0.66056	D	0.02	.	13.3065	0.60355	0.0:0.5332:0.4668:0.0	.	185;185	Q86VG0;O14709	.;ZN197_HUMAN	Y	185	ENSP00000373250:S185Y;ENSP00000345809:S185Y;ENSP00000373251:S185Y;ENSP00000379370:S185Y	ENSP00000345809:S185Y	S	+	2	0	ZNF197	44648604	0.066000	0.20996	0.776000	0.31678	0.947000	0.59692	0.412000	0.21131	0.796000	0.33947	-0.226000	0.12346	TCT	ZNF197	-	NULL	ENSG00000186448		0.478	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	314	0.00	0	C	NM_006991		44673600	44673600	+1	no_errors	ENST00000344387	ensembl	human	known	69_37n	missense	219	14.45	37	SNP	0.551	A
ZNF197	10168	genome.wustl.edu	37	3	44685219	44685219	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44685219G>T	ENST00000396058.1	+	5	2764	c.2597G>T	c.(2596-2598)aGa>aTa	p.R866I	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R866I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	866					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAACATCAAAGAATTCACAGT	0.403																																						dbGAP											0													88.0	97.0	94.0					3																	44685219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.2597G>T	3.37:g.44685219G>T	ENSP00000379370:p.Arg866Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R866I	ENST00000396058.1	37	c.2597	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763154	0.49574	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.24908	1.83;1.83	3.62	3.62	0.41486	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35235	U	0.003349	T	0.43678	0.1258	L	0.61218	1.895	0.43296	D	0.995286	D	0.89917	1.0	D	0.83275	0.996	T	0.31503	-0.9941	10	0.59425	D	0.04	.	9.0406	0.36316	0.1067:0.0:0.8933:0.0	.	866	O14709	ZN197_HUMAN	I	866	ENSP00000345809:R866I;ENSP00000379370:R866I	ENSP00000345809:R866I	R	+	2	0	ZNF197	44660223	0.150000	0.22732	0.966000	0.40874	0.981000	0.71138	2.659000	0.46741	2.307000	0.77673	0.557000	0.71058	AGA	ZNF197	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186448		0.403	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	83	0.00	0	G	NM_006991		44685219	44685219	+1	no_errors	ENST00000344387	ensembl	human	known	69_37n	missense	76	22.45	22	SNP	0.982	T
ZNF214	7761	genome.wustl.edu	37	11	7021298	7021298	+	Missense_Mutation	SNP	G	G	T	rs35065160		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7021298G>T	ENST00000278314.4	-	3	1931	c.1616C>A	c.(1615-1617)tCt>tAt	p.S539Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.S539Y|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTGAAGATTAGAACTGTGACT	0.413																																					Ovarian(22;251 657 736 21522 46864)	dbGAP											0													132.0	134.0	133.0					11																	7021298		2201	4295	6496	-	-	-	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1616C>A	11.37:g.7021298G>T	ENSP00000278314:p.Ser539Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S539Y	ENST00000278314.4	37	c.1616	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912344	0.33721	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.07567	3.18;3.18	4.69	4.69	0.59074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000485	T	0.19046	0.0457	L	0.58583	1.82	0.25590	N	0.986704	D	0.63880	0.993	P	0.61397	0.888	T	0.02625	-1.1132	10	0.54805	T	0.06	.	8.9792	0.35955	0.0994:0.0:0.9006:0.0	.	539	Q9UL59	ZN214_HUMAN	Y	539	ENSP00000278314:S539Y;ENSP00000445373:S539Y	ENSP00000278314:S539Y	S	-	2	0	ZNF214	6977874	0.003000	0.15002	0.998000	0.56505	0.978000	0.69477	1.194000	0.32174	2.607000	0.88179	0.561000	0.74099	TCT	ZNF214	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149050		0.413	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	300	0.66	2	G			7021298	7021298	-1	no_errors	ENST00000278314	ensembl	human	known	69_37n	missense	237	13.50	37	SNP	0.885	T
ZNF214	7761	genome.wustl.edu	37	11	7021924	7021924	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7021924G>T	ENST00000278314.4	-	3	1305	c.990C>A	c.(988-990)ttC>ttA	p.F330L	ZNF214_ENST00000536068.1_Missense_Mutation_p.F330L|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CAATTTTATAGAATTTCTCTT	0.383																																					Ovarian(22;251 657 736 21522 46864)	dbGAP											0													96.0	101.0	99.0					11																	7021924		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.990C>A	11.37:g.7021924G>T	ENSP00000278314:p.Phe330Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F330L	ENST00000278314.4	37	c.990	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	0.098	-1.155833	0.01686	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.13778	2.56;2.56	3.54	2.63	0.31362	Zinc finger, C2H2 (2);	1.560460	0.04022	N	0.300012	T	0.07413	0.0187	N	0.04669	-0.19	0.23645	N	0.997215	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	10	0.56958	D	0.05	.	4.3962	0.11363	0.1171:0.0:0.6607:0.2221	.	330	Q9UL59	ZN214_HUMAN	L	330	ENSP00000278314:F330L;ENSP00000445373:F330L	ENSP00000278314:F330L	F	-	3	2	ZNF214	6978500	0.000000	0.05858	0.244000	0.24202	0.940000	0.58332	-0.361000	0.07612	1.069000	0.40788	0.655000	0.94253	TTC	ZNF214	-	pfscan_Znf_C2H2	ENSG00000149050		0.383	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	181	0.00	0	G			7021924	7021924	-1	no_errors	ENST00000278314	ensembl	human	known	69_37n	missense	140	13.04	21	SNP	0.946	T
ZNF214	7761	genome.wustl.edu	37	11	7022736	7022736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr11:7022736C>A	ENST00000278314.4	-	3	493	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	ZNF214_ENST00000536068.1_Nonsense_Mutation_p.E60*|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E60*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTTTCATATTCTAAGTATCTG	0.378																																					Ovarian(22;251 657 736 21522 46864)	dbGAP											1	Substitution - Nonsense(1)	lung(1)											77.0	85.0	82.0					11																	7022736		2201	4294	6495	-	-	-	SO:0001587	stop_gained	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.178G>T	11.37:g.7022736C>A	ENSP00000278314:p.Glu60*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E60*	ENST00000278314.4	37	c.178	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606869	0.66558	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	.	.	.	4.14	1.13	0.20643	.	1.014330	0.07923	N	0.976246	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.6861	0.28540	0.0:0.5967:0.3122:0.0911	.	.	.	.	X	60	.	ENSP00000278314:E60X	E	-	1	0	ZNF214	6979312	0.000000	0.05858	0.681000	0.30009	0.804000	0.45430	-0.134000	0.10436	0.139000	0.18822	-0.165000	0.13383	GAA	ZNF214	-	pfscan_Krueppel-associated_box	ENSG00000149050		0.378	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	60	0.00	0	C			7022736	7022736	-1	no_errors	ENST00000278314	ensembl	human	known	69_37n	nonsense	35	20.45	9	SNP	0.035	A
ZNF229	7772	genome.wustl.edu	37	19	44933359	44933359	+	Missense_Mutation	SNP	G	G	T	rs562216013		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44933359G>T	ENST00000588931.1	-	6	2030	c.1597C>A	c.(1597-1599)Ctc>Atc	p.L533I	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.L527I|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGATGCATGAGAAGCCCTGAG	0.517																																						dbGAP											0													110.0	116.0	114.0					19																	44933359		2149	4278	6427	-	-	-	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1597C>A	19.37:g.44933359G>T	ENSP00000466519:p.Leu533Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L533I	ENST00000588931.1	37	c.1597	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347412	0.41599	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14743	0.0356	N	0.12443	0.215	0.09310	N	1	P	0.39352	0.669	B	0.41036	0.346	T	0.11421	-1.0588	8	0.06757	T	0.87	.	6.8595	0.24060	0.1056:0.3233:0.5711:0.0	.	533	Q9UJW7	ZN229_HUMAN	I	533	.	ENSP00000291187:L533I	L	-	1	0	ZNF229	49625199	0.000000	0.05858	0.002000	0.10522	0.333000	0.28666	-1.408000	0.02485	1.631000	0.50456	0.609000	0.83330	CTC	ZNF229	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167383		0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	256	0.00	0	G	NM_014518		44933359	44933359	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	missense	162	14.66	28	SNP	0.000	T
ZNF23	7571	genome.wustl.edu	37	16	71483103	71483103	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:71483103C>T	ENST00000393539.2	-	6	1638	c.825G>A	c.(823-825)acG>acA	p.T275T	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Silent_p.T275T|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.T217T|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.T275T|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.T217T	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GCTTCTCTCCCGTATGGATTC	0.468																																						dbGAP											0													98.0	94.0	96.0					16																	71483103		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.825G>A	16.37:g.71483103C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T275	ENST00000393539.2	37	c.825	CCDS10900.1	16																																																																																			ZNF23	-	pfscan_Znf_C2H2	ENSG00000167377		0.468	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	128	0.00	0	C	NM_145911		71483103	71483103	-1	no_errors	ENST00000357254	ensembl	human	known	69_37n	silent	61	26.51	22	SNP	1.000	T
ZNF23	7571	genome.wustl.edu	37	16	71483736	71483736	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:71483736C>A	ENST00000393539.2	-	6	1005	c.192G>T	c.(190-192)gaG>gaT	p.E64D	ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.E64D|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.E6D|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.E64D|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E6D	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ATGATACATTCTCTTTTCCTT	0.343																																						dbGAP											0													65.0	65.0	65.0					16																	71483736		2198	4299	6497	-	-	-	SO:0001583	missense	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.192G>T	16.37:g.71483736C>A	ENSP00000377171:p.Glu64Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E64D	ENST00000393539.2	37	c.192	CCDS10900.1	16	.	.	.	.	.	.	.	.	.	.	C	0.293	-0.978576	0.02197	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	3.62	-2.98	0.05513	.	2.293520	0.01830	N	0.034627	T	0.18467	0.0443	N	0.21324	0.655	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.13469	-1.0508	10	0.12766	T	0.61	0.2975	6.4808	0.22061	0.2334:0.365:0.4016:0.0	.	64;64	B3KR55;P17027	.;ZNF23_HUMAN	D	64;64;64;6;6	ENSP00000377171:E64D;ENSP00000349796:E64D;ENSP00000395712:E64D;ENSP00000387673:E6D	ENSP00000349796:E64D	E	-	3	2	ZNF23	70041237	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.661000	0.05311	-0.641000	0.05487	-0.274000	0.10170	GAG	ZNF23	-	NULL	ENSG00000167377		0.343	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	172	0.00	0	C	NM_145911		71483736	71483736	-1	no_errors	ENST00000357254	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	0.000	A
ZNF230	7773	genome.wustl.edu	37	19	44513052	44513052	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44513052G>A	ENST00000429154.2	+	3	354	c.126G>A	c.(124-126)acG>acA	p.T42T	ZNF230_ENST00000585632.1_Silent_p.T42T	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGAACTTCACGAACCTGCTGT	0.517																																					GBM(175;914 2069 22996 47111 52600)	dbGAP											0													181.0	158.0	166.0					19																	44513052		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.126G>A	19.37:g.44513052G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T42	ENST00000429154.2	37	c.126	CCDS33044.1	19																																																																																			ZNF230	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000159882		0.517	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	243	0.00	0	G			44513052	44513052	+1	no_errors	ENST00000429154	ensembl	human	known	69_37n	silent	258	13.29	40	SNP	0.944	A
ZNF235	9310	genome.wustl.edu	37	19	44792041	44792041	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44792041C>T	ENST00000291182.4	-	5	1649	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CACGTTGCATCGAAATGGTTT	0.443																																						dbGAP											0													120.0	113.0	115.0					19																	44792041		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1547G>A	19.37:g.44792041C>T	ENSP00000291182:p.Arg516Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R516Q	ENST00000291182.4	37	c.1547	CCDS33048.1	19	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811208	0.32053	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.14391	2.51	5.04	1.2	0.21068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.384593	0.19303	N	0.117593	T	0.04815	0.0130	N	0.04636	-0.2	0.09310	N	1	B;B	0.24368	0.034;0.102	B;B	0.14578	0.007;0.011	T	0.31024	-0.9958	10	0.46703	T	0.11	.	3.585	0.07967	0.0:0.4142:0.1887:0.3971	.	512;516	Q14590-2;Q14590	.;ZN235_HUMAN	Q	516;516;408	ENSP00000291182:R516Q	ENSP00000291182:R516Q	R	-	2	0	ZNF235	49483881	0.000000	0.05858	0.153000	0.22517	0.985000	0.73830	-1.834000	0.01693	0.632000	0.30432	0.462000	0.41574	CGA	ZNF235	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159917		0.443	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF235	HGNC	protein_coding	OTTHUMT00000460732.1	357	0.00	0	C			44792041	44792041	-1	no_errors	ENST00000291182	ensembl	human	known	69_37n	missense	224	26.56	81	SNP	0.009	T
ZNF248	57209	genome.wustl.edu	37	10	38121837	38121837	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:38121837T>G	ENST00000395867.3	-	6	996	c.446A>C	c.(445-447)aAt>aCt	p.N149T	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.N149T	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCCCGAAATATTTTTCAAATT	0.328																																						dbGAP											0													46.0	49.0	48.0					10																	38121837		2202	4296	6498	-	-	-	SO:0001583	missense	0			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.446A>C	10.37:g.38121837T>G	ENSP00000379208:p.Asn149Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N149T	ENST00000395867.3	37	c.446	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	T	6.765	0.509942	0.12883	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.05081	3.5;3.5	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000105	T	0.04588	0.0125	L	0.33485	1.01	0.21878	N	0.999499	P	0.48230	0.907	B	0.40940	0.344	T	0.30297	-0.9983	10	0.09084	T	0.74	.	8.128	0.31010	0.1792:0.0:0.0:0.8208	.	149	Q8NDW4	ZN248_HUMAN	T	149	ENSP00000379208:N149T;ENSP00000349882:N149T	ENSP00000349882:N149T	N	-	2	0	ZNF248	38161843	0.018000	0.18449	1.000000	0.80357	0.992000	0.81027	0.989000	0.29629	2.179000	0.69175	0.460000	0.39030	AAT	ZNF248	-	NULL	ENSG00000198105		0.328	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	156	0.00	0	T	NM_021045		38121837	38121837	-1	no_errors	ENST00000357328	ensembl	human	known	69_37n	missense	132	12.58	19	SNP	0.456	G
ZNF25	219749	genome.wustl.edu	37	10	38241425	38241425	+	Missense_Mutation	SNP	C	C	T	rs573942309	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:38241425C>T	ENST00000302609.7	-	6	1213	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	334					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(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGTGTGAGTTCGCTGATGTAC	0.413													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21699	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													66.0	66.0	66.0					10																	38241425		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.1001G>A	10.37:g.38241425C>T	ENSP00000302222:p.Arg334Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R334Q	ENST00000302609.7	37	c.1001	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327259	0.81690	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.02369	4.32	4.66	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34725	N	0.003737	T	0.12135	0.0295	M	0.62016	1.91	0.33722	D	0.61715	D	0.89917	1.0	D	0.67725	0.953	T	0.01516	-1.1335	10	0.72032	D	0.01	-32.7324	15.4856	0.75564	0.0:1.0:0.0:0.0	.	334	P17030	ZNF25_HUMAN	Q	334;298	ENSP00000302222:R334Q	ENSP00000302222:R334Q	R	-	2	0	ZNF25	38281431	0.001000	0.12720	1.000000	0.80357	0.982000	0.71751	1.437000	0.34991	2.587000	0.87381	0.556000	0.70494	CGA	ZNF25	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175395		0.413	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1	193	0.51	1	C	NM_145011, NM_006966		38241425	38241425	-1	no_errors	ENST00000302609	ensembl	human	known	69_37n	missense	202	19.84	50	SNP	1.000	T
ZNF25	219749	genome.wustl.edu	37	10	38241539	38241539	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:38241539G>A	ENST00000302609.7	-	6	1099	c.887C>T	c.(886-888)tCt>tTt	p.S296F	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	296					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(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGAATTCCTAGAGAAGAATTT	0.438																																						dbGAP											0													69.0	69.0	69.0					10																	38241539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.887C>T	10.37:g.38241539G>A	ENSP00000302222:p.Ser296Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S296F	ENST00000302609.7	37	c.887	CCDS7195.1	10	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518111	0.44763	.	.	ENSG00000175395	ENST00000302609;ENST00000374633	T	0.08008	3.14	4.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.166261	0.29185	N	0.012883	T	0.05090	0.0136	N	0.17082	0.46	0.09310	N	1	B	0.25206	0.12	B	0.21546	0.035	T	0.33803	-0.9854	10	0.48119	T	0.1	-13.5399	8.0189	0.30398	0.0942:0.1632:0.7426:0.0	.	296	P17030	ZNF25_HUMAN	F	296;260	ENSP00000302222:S296F	ENSP00000302222:S296F	S	-	2	0	ZNF25	38281545	0.000000	0.05858	0.979000	0.43373	0.987000	0.75469	-0.090000	0.11163	1.323000	0.45263	0.549000	0.68633	TCT	ZNF25	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175395		0.438	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1	163	0.00	0	G	NM_145011, NM_006966		38241539	38241539	-1	no_errors	ENST00000302609	ensembl	human	known	69_37n	missense	153	30.77	68	SNP	0.066	A
ZNF251	90987	genome.wustl.edu	37	8	145948569	145948569	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:145948569T>C	ENST00000292562.7	-	5	751	c.476A>G	c.(475-477)aAt>aGt	p.N159S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTGTGAATATTGGGTTTGTT	0.483																																						dbGAP											0													77.0	78.0	78.0					8																	145948569		1827	4073	5900	-	-	-	SO:0001583	missense	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.476A>G	8.37:g.145948569T>C	ENSP00000292562:p.Asn159Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N159S	ENST00000292562.7	37	c.476	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	t	0.003	-2.501678	0.00157	.	.	ENSG00000198169	ENST00000292562	T	0.06294	3.32	1.19	-2.37	0.06643	.	.	.	.	.	T	0.02230	0.0069	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47071	-0.9145	9	0.07990	T	0.79	3.8354	7.6293	0.28230	0.0:0.621:0.0:0.379	.	159	Q9BRH9	ZN251_HUMAN	S	159	ENSP00000292562:N159S	ENSP00000292562:N159S	N	-	2	0	ZNF251	145919378	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.259000	0.02861	-1.255000	0.02481	-2.578000	0.00169	AAT	ZNF251	-	NULL	ENSG00000198169		0.483	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	90	0.00	0	T	NM_138367		145948569	145948569	-1	no_errors	ENST00000292562	ensembl	human	known	69_37n	missense	65	16.67	13	SNP	0.001	C
ZNF254	9534	genome.wustl.edu	37	19	24309423	24309423	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:24309423G>T	ENST00000357002.4	+	4	736	c.621G>T	c.(619-621)gaG>gaT	p.E207D	ZNF254_ENST00000342944.6_Missense_Mutation_p.E122D	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	207					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCATAGAGAGAAGTCCTACA	0.303																																						dbGAP											0													57.0	64.0	61.0					19																	24309423		2203	4291	6494	-	-	-	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.621G>T	19.37:g.24309423G>T	ENSP00000349494:p.Glu207Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E207D	ENST00000357002.4	37	c.621	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	G	8.655	0.899153	0.17686	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.51071	0.72;0.72	0.926	0.926	0.19430	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68238	0.2979	M	0.89904	3.07	0.23186	N	0.998156	D	0.71674	0.998	D	0.68353	0.957	T	0.55263	-0.8168	9	0.56958	D	0.05	.	7.1879	0.25809	0.0:0.0:1.0:0.0	.	207	O75437	ZN254_HUMAN	D	122;207;207	ENSP00000445527:E122D;ENSP00000349494:E207D	ENSP00000445527:E122D	E	+	3	2	ZNF254	24101263	0.991000	0.36638	0.011000	0.14972	0.026000	0.11368	0.540000	0.23191	0.308000	0.22923	0.313000	0.20887	GAG	ZNF254	-	NULL	ENSG00000213096		0.303	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	105	0.00	0	G	NM_004876		24309423	24309423	+1	no_errors	ENST00000357002	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	0.987	T
ZNF257	113835	genome.wustl.edu	37	19	22271019	22271019	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22271019A>C	ENST00000594947.1	+	4	611	c.467A>C	c.(466-468)aAg>aCg	p.K156T	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCTTCTATAAGTTTTCAAAT	0.313																																						dbGAP											0													42.0	46.0	44.0					19																	22271019		2180	4284	6464	-	-	-	SO:0001583	missense	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.467A>C	19.37:g.22271019A>C	ENSP00000470209:p.Lys156Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K156T	ENST00000594947.1	37	c.467	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	A	6.139	0.393872	0.11638	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	.	.	.	.	.	T	0.30166	0.0756	L	0.33245	0.995	0.09310	N	1	B	0.28258	0.205	B	0.30572	0.117	T	0.27773	-1.0064	8	0.52906	T	0.07	.	5.9831	0.19419	1.0:0.0:0.0:0.0	.	156	Q9Y2Q1	ZN257_HUMAN	T	156	.	ENSP00000380312:K156T	K	+	2	0	ZNF257	22062859	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	0.810000	0.27183	0.436000	0.26393	0.260000	0.18958	AAG	ZNF257	-	NULL	ENSG00000197134		0.313	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	174	0.00	0	A			22271019	22271019	+1	no_errors	ENST00000435820	ensembl	human	known	69_37n	missense	188	15.70	35	SNP	0.002	C
ZNF254	9534	genome.wustl.edu	37	19	24309518	24309518	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:24309518A>G	ENST00000357002.4	+	4	831	c.716A>G	c.(715-717)aAa>aGa	p.K239R	ZNF254_ENST00000342944.6_Missense_Mutation_p.K154R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	239					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAACCTTACAAATGTGAAGAA	0.338																																						dbGAP											0													37.0	40.0	39.0					19																	24309518		2203	4293	6496	-	-	-	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.716A>G	19.37:g.24309518A>G	ENSP00000349494:p.Lys239Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K239R	ENST00000357002.4	37	c.716	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	A	9.424	1.083779	0.20309	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.30182	1.54;1.54	1.12	-1.3	0.09259	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25680	0.0625	M	0.68593	2.085	0.09310	N	1	P	0.36753	0.568	B	0.32762	0.152	T	0.11717	-1.0576	9	0.52906	T	0.07	.	5.4752	0.16692	0.4204:0.5796:0.0:0.0	.	239	O75437	ZN254_HUMAN	R	154;239;239	ENSP00000445527:K154R;ENSP00000349494:K239R	ENSP00000445527:K154R	K	+	2	0	ZNF254	24101358	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.851000	0.04313	-0.537000	0.06290	0.260000	0.18958	AAA	ZNF254	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213096		0.338	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	126	0.00	0	A	NM_004876		24309518	24309518	+1	no_errors	ENST00000357002	ensembl	human	known	69_37n	missense	83	35.66	46	SNP	0.004	G
ZNF259P1	442240	genome.wustl.edu	37	6	109107766	109107766	+	RNA	SNP	C	C	T	rs554378171		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:109107766C>T	ENST00000572422.1	-	0	474									zinc finger protein 259 pseudogene 1																		TGTTGCCCTTCGCGCAGGCTA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20653	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			Z95118		6q21	2012-10-05	2009-11-20	2009-11-20	ENSG00000219565	ENSG00000219565			13052	pseudogene	pseudogene			"""zinc finger protein 259, pseudogene"""	ZNF259P			Standard	NG_009460		Approved	354J5			OTTHUMG00000016136		6.37:g.109107766C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000572422.1	37	NULL		6																																																																																			ZNF259P1	-	-	ENSG00000219565		0.478	ZNF259P1-002	KNOWN	basic	processed_transcript	ZNF259P1	HGNC	pseudogene	OTTHUMT00000436273.1	119	0.00	0	C	NG_009460		109107766	109107766	-1	no_errors	ENST00000572422	ensembl	human	known	69_37n	rna	71	11.25	9	SNP	0.003	T
ZNF263	10127	genome.wustl.edu	37	16	3339699	3339699	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:3339699G>T	ENST00000219069.5	+	6	2069	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	ZNF263_ENST00000574253.1_3'UTR|ZNF263_ENST00000538765.1_Missense_Mutation_p.R46I	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	398					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AGGCACCAGAGAATACATGCA	0.478																																						dbGAP											0													106.0	98.0	101.0					16																	3339699		2197	4300	6497	-	-	-	SO:0001583	missense	0			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1193G>T	16.37:g.3339699G>T	ENSP00000219069:p.Arg398Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R634|O43387|Q96H95	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R398I	ENST00000219069.5	37	c.1193	CCDS10499.1	16	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398176	0.42512	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.58060	0.36;0.36	6.02	6.02	0.97574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000024	T	0.70876	0.3274	M	0.78344	2.41	0.80722	D	1	P	0.51791	0.948	P	0.57425	0.82	T	0.73094	-0.4091	10	0.87932	D	0	.	18.0345	0.89296	0.0:0.0:1.0:0.0	.	398	O14978	ZN263_HUMAN	I	46;398	ENSP00000444497:R46I;ENSP00000219069:R398I	ENSP00000219069:R398I	R	+	2	0	ZNF263	3279700	0.040000	0.19996	1.000000	0.80357	0.612000	0.37316	1.926000	0.40084	2.865000	0.98341	0.655000	0.94253	AGA	ZNF263	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000006194		0.478	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2	88	0.00	0	G			3339699	3339699	+1	no_errors	ENST00000219069	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	1.000	T
ZNF267	10308	genome.wustl.edu	37	16	31926853	31926853	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:31926853G>A	ENST00000300870.10	+	4	1492	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	428					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R428Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAACATAAGCGAATTCATACT	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											46.0	52.0	50.0					16																	31926853		2197	4299	6496	-	-	-	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1283G>A	16.37:g.31926853G>A	ENSP00000300870:p.Arg428Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R428Q	ENST00000300870.10	37	c.1283	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	14.95	2.687505	0.48097	.	.	ENSG00000185947	ENST00000300870	T	0.02369	4.32	0.458	-0.616	0.11583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	L	0.37507	1.11	0.80722	D	1	D	0.56035	0.974	B	0.30251	0.113	T	0.61618	-0.7026	9	0.72032	D	0.01	.	4.5985	0.12341	0.3008:0.0:0.6992:0.0	.	428	Q14586	ZN267_HUMAN	Q	428	ENSP00000300870:R428Q	ENSP00000300870:R428Q	R	+	2	0	ZNF267	31834354	0.000000	0.05858	0.322000	0.25334	0.296000	0.27459	0.483000	0.22292	-0.354000	0.08212	-0.350000	0.07774	CGA	ZNF267	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185947		0.368	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	95	0.00	0	G	NM_003414		31926853	31926853	+1	no_errors	ENST00000300870	ensembl	human	known	69_37n	missense	54	23.61	17	SNP	0.998	A
ZNF268	10795	genome.wustl.edu	37	12	133780671	133780671	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:133780671G>T	ENST00000536435.2	+	6	2729	c.2399G>T	c.(2398-2400)aGa>aTa	p.R800I	ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.R639I|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R800I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	800					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATACACATGAGAACTCATTCA	0.418																																						dbGAP											0													48.0	47.0	48.0					12																	133780671		692	1590	2282	-	-	-	SO:0001583	missense	0			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.2399G>T	12.37:g.133780671G>T	ENSP00000444412:p.Arg800Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R800I	ENST00000536435.2	37	c.2399	CCDS45012.1	12	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186984	0.57909	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.24908	1.83;1.83	4.08	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20007	0.0481	L	0.49571	1.57	0.41698	D	0.989381	P;P	0.50943	0.94;0.876	B;B	0.40165	0.321;0.258	T	0.04386	-1.0955	8	.	.	.	.	7.5037	0.27532	0.0927:0.0:0.7435:0.1638	.	800;639	Q14587;Q14587-2	ZN268_HUMAN;.	I	800;800;639;639	ENSP00000228289:R800I;ENSP00000445713:R639I	.	R	+	2	0	ZNF268	.	0.004000	0.15560	0.895000	0.35142	0.993000	0.82548	1.378000	0.34328	0.927000	0.37143	-0.229000	0.12294	AGA	ZNF268	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000090612		0.418	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF268	HGNC	protein_coding	OTTHUMT00000397191.2	94	0.00	0	G	NM_152943		133780671	133780671	+1	no_errors	ENST00000228289	ensembl	human	known	69_37n	missense	72	27.00	27	SNP	1.000	T
ZNF271	10778	genome.wustl.edu	37	18	32886892	32886892	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:32886892G>A	ENST00000399070.3	+	0	1286					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						AATCATCAACGAATTCACACT	0.373																																						dbGAP											0													60.0	60.0	60.0					18																	32886892		2203	4300	6503	-	-	-			0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886892G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.373	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	145	0.00	0	G	NR_024565		32886892	32886892	+1	no_errors	ENST00000399070	ensembl	human	known	69_37n	rna	84	25.66	29	SNP	0.233	A
ZNF273	10793	genome.wustl.edu	37	7	64389097	64389097	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:64389097G>T	ENST00000476120.1	+	4	1462	c.1391G>T	c.(1390-1392)gGc>gTc	p.G464V	ZNF273_ENST00000319636.5_Missense_Mutation_p.G399V|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GAAGAATGTGGCAGTGCCTTT	0.373																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	dbGAP											0													38.0	40.0	40.0					7																	64389097		2202	4299	6501	-	-	-	SO:0001583	missense	0			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.1391G>T	7.37:g.64389097G>T	ENSP00000418719:p.Gly464Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G464V	ENST00000476120.1	37	c.1391	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	16.60	3.169288	0.57584	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.01015	5.44;5.44	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04998	0.0134	M	0.86502	2.82	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.09185	-1.0686	9	0.87932	D	0	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	464	Q14593	ZN273_HUMAN	V	464;399	ENSP00000418719:G464V;ENSP00000324518:G399V	ENSP00000324518:G399V	G	+	2	0	ZNF273	64026532	0.999000	0.42202	0.467000	0.27180	0.468000	0.32798	2.959000	0.49153	0.202000	0.20498	0.205000	0.17691	GGC	ZNF273	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198039		0.373	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1	26	0.00	0	G			64389097	64389097	+1	no_errors	ENST00000476120	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	1.000	T
ZNF274	10782	genome.wustl.edu	37	19	58724115	58724115	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58724115C>T	ENST00000326804.4	+	9	2024	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	ZNF274_ENST00000424679.2_Missense_Mutation_p.S417F|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.S490F	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGATACTTTTCTGTGCATAAG	0.438																																						dbGAP											0													100.0	105.0	104.0					19																	58724115		1916	4142	6058	-	-	-	SO:0001583	missense	0			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1565C>T	19.37:g.58724115C>T	ENSP00000321209:p.Ser522Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S522F	ENST00000326804.4	37	c.1565		19	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290914	0.59976	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.08008	3.14;3.14;3.14	5.38	4.31	0.51392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36555	N	0.002538	T	0.23727	0.0574	.	.	.	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.71414	0.955;0.955;0.973	T	0.01093	-1.1454	9	0.66056	D	0.02	-18.7381	11.3658	0.49671	0.2977:0.7023:0.0:0.0	.	418;491;523	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	F	522;490;417	ENSP00000321209:S522F;ENSP00000321187:S490F;ENSP00000409872:S417F	ENSP00000321209:S522F	S	+	2	0	ZNF274	63415927	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	-0.564000	0.05936	2.802000	0.96397	0.655000	0.94253	TCT	ZNF274	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171606		0.438	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		139	0.00	0	C	NM_133502		58724115	58724115	+1	no_errors	ENST00000326804	ensembl	human	known	69_37n	missense	77	11.49	10	SNP	0.005	T
ZNF280A	129025	genome.wustl.edu	37	22	22868692	22868692	+	Missense_Mutation	SNP	C	C	A	rs185502306		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:22868692C>A	ENST00000302097.3	-	2	1515	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AAAGCAAATTCTTTGTGTTTT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19066	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													115.0	105.0	108.0					22																	22868692		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1263G>T	22.37:g.22868692C>A	ENSP00000302855:p.Lys421Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K421N	ENST00000302097.3	37	c.1263	CCDS13800.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.556	0.663708	0.14710	.	.	ENSG00000169548	ENST00000302097	T	0.64085	-0.08	3.85	-1.16	0.09678	.	.	.	.	.	T	0.54029	0.1833	M	0.67700	2.07	0.09310	N	1	P	0.48503	0.911	B	0.41466	0.358	T	0.49762	-0.8905	9	0.59425	D	0.04	-0.0091	4.4286	0.11517	0.0:0.3269:0.1858:0.4873	.	421	P59817	Z280A_HUMAN	N	421	ENSP00000302855:K421N	ENSP00000302855:K421N	K	-	3	2	ZNF280A	21198692	0.131000	0.22433	0.000000	0.03702	0.010000	0.07245	-0.041000	0.12084	-0.104000	0.12154	-0.345000	0.07892	AAG	ZNF280A	-	NULL	ENSG00000169548		0.438	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	HGNC	protein_coding	OTTHUMT00000075433.3	160	0.62	1	C	NM_080740		22868692	22868692	-1	no_errors	ENST00000302097	ensembl	human	known	69_37n	missense	133	29.26	55	SNP	0.005	A
ZNF280A	129025	genome.wustl.edu	37	22	22869496	22869496	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr22:22869496G>T	ENST00000302097.3	-	2	711	c.459C>A	c.(457-459)gtC>gtA	p.V153V	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCCTCCAGAGACCATAGCTC	0.453																																						dbGAP											0													65.0	65.0	65.0					22																	22869496		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.459C>A	22.37:g.22869496G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V153	ENST00000302097.3	37	c.459	CCDS13800.1	22																																																																																			ZNF280A	-	NULL	ENSG00000169548		0.453	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280A	HGNC	protein_coding	OTTHUMT00000075433.3	119	0.00	0	G	NM_080740		22869496	22869496	-1	no_errors	ENST00000302097	ensembl	human	known	69_37n	silent	82	25.45	28	SNP	0.000	T
ZNF280D	54816	genome.wustl.edu	37	15	56923863	56923863	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:56923863C>T	ENST00000267807.7	-	22	2989	c.2773G>A	c.(2773-2775)Gag>Aag	p.E925K	ZNF280D_ENST00000559237.1_Missense_Mutation_p.E912K|RP11-1129I3.1_ENST00000562300.1_RNA	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCAAGTACCTCGGATGGAGTC	0.418																																						dbGAP											0													141.0	137.0	139.0					15																	56923863		2192	4292	6484	-	-	-	SO:0001583	missense	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2773G>A	15.37:g.56923863C>T	ENSP00000267807:p.Glu925Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E925K	ENST00000267807.7	37	c.2773	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363345	0.82353	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.09073	3.02	5.73	5.73	0.89815	.	5.707120	0.00827	N	0.001621	T	0.27241	0.0668	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.02352	-1.1172	10	0.87932	D	0	-12.4317	18.8912	0.92406	0.0:1.0:0.0:0.0	.	925	Q6N043	Z280D_HUMAN	K	925;912	ENSP00000267807:E925K	ENSP00000267807:E925K	E	-	1	0	ZNF280D	54711155	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.468000	0.66743	2.697000	0.92050	0.563000	0.77884	GAG	ZNF280D	-	NULL	ENSG00000137871		0.418	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	238	0.00	0	C	XM_370867		56923863	56923863	-1	no_errors	ENST00000267807	ensembl	human	known	69_37n	missense	183	14.81	32	SNP	1.000	T
ZNF283	284349	genome.wustl.edu	37	19	44341306	44341306	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44341306G>A	ENST00000324461.7	+	6	609	c.312G>A	c.(310-312)gaG>gaA	p.E104E	ZNF283_ENST00000593164.1_Silent_p.E79E|ZNF283_ENST00000593268.1_Intron|ZNF283_ENST00000590950.1_Intron|ZNF283_ENST00000588797.1_Intron|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000310738.8_Silent_p.E68E	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	104	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TAATGTTGGAGAACTATAGTA	0.478																																						dbGAP											0													159.0	177.0	171.0					19																	44341306		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.312G>A	19.37:g.44341306G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E104	ENST00000324461.7	37	c.312	CCDS46097.1	19																																																																																			ZNF283	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167637		0.478	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	504	0.00	0	G	NM_181845		44341306	44341306	+1	no_errors	ENST00000324461	ensembl	human	known	69_37n	silent	360	14.05	59	SNP	1.000	A
ZNF284	342909	genome.wustl.edu	37	19	44590315	44590315	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44590315G>T	ENST00000421176.3	+	5	900	c.684G>T	c.(682-684)gaG>gaT	p.E228D	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E228D(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ACACTGGAGAGAAACCATTCA	0.403																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											70.0	77.0	74.0					19																	44590315		2199	4298	6497	-	-	-	SO:0001583	missense	0			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.684G>T	19.37:g.44590315G>T	ENSP00000411032:p.Glu228Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E228D	ENST00000421176.3	37	c.684	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559607	0.65538	.	.	ENSG00000186026	ENST00000421176	T	0.26810	1.71	2.59	1.52	0.23074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39989	0.1099	L	0.54908	1.71	0.20638	N	0.999879	D	0.57257	0.979	D	0.63597	0.916	T	0.13872	-1.0493	9	0.72032	D	0.01	.	8.6192	0.33851	0.1258:0.0:0.8742:0.0	.	228	Q2VY69	ZN284_HUMAN	D	228	ENSP00000411032:E228D	ENSP00000411032:E228D	E	+	3	2	ZNF284	49282155	0.897000	0.30589	0.052000	0.19188	0.526000	0.34562	0.405000	0.21015	0.403000	0.25479	-0.448000	0.05591	GAG	ZNF284	-	pfscan_Znf_C2H2	ENSG00000186026		0.403	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1	165	0.00	0	G	NM_001037813		44590315	44590315	+1	no_errors	ENST00000421176	ensembl	human	known	69_37n	missense	127	26.16	45	SNP	1.000	T
ZNF292	23036	genome.wustl.edu	37	6	87928382	87928382	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:87928382G>T	ENST00000369577.3	+	4	514	c.471G>T	c.(469-471)gaG>gaT	p.E157D	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Missense_Mutation_p.E157D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	157						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGCTCAAGAGACTGGGGTGT	0.368																																						dbGAP											0													40.0	39.0	40.0					6																	87928382		1825	4079	5904	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.471G>T	6.37:g.87928382G>T	ENSP00000358590:p.Glu157Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E157D	ENST00000369577.3	37	c.471	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687930	0.48097	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08370	3.1;3.13	4.94	2.16	0.27623	.	0.051157	0.85682	D	0.000000	T	0.05318	0.0141	L	0.27053	0.805	0.35121	D	0.76701	P;D	0.64830	0.539;0.994	B;P	0.57620	0.189;0.824	T	0.28459	-1.0043	10	0.72032	D	0.01	.	7.7269	0.28765	0.3242:0.0:0.6758:0.0	.	157;157	O60281;Q6ZW83	ZN292_HUMAN;.	D	157	ENSP00000358590:E157D;ENSP00000342847:E157D	ENSP00000342847:E157D	E	+	3	2	ZNF292	87985101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.683000	0.37638	0.496000	0.27904	0.455000	0.32223	GAG	ZNF292	-	NULL	ENSG00000188994		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	319	0.00	0	G	NM_015021		87928382	87928382	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	178	14.83	31	SNP	1.000	T
ZNF292	23036	genome.wustl.edu	37	6	87964840	87964840	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:87964840C>A	ENST00000369577.3	+	8	1536	c.1493C>A	c.(1492-1494)tCt>tAt	p.S498Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.S493Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	498						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATGGGCTTTCTGGTGGAGTT	0.368																																						dbGAP											0													112.0	105.0	108.0					6																	87964840		1872	4106	5978	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1493C>A	6.37:g.87964840C>A	ENSP00000358590:p.Ser498Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S498Y	ENST00000369577.3	37	c.1493	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505475	0.26949	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.36878	1.23;1.23	5.66	4.79	0.61399	.	0.234978	0.42294	D	0.000728	T	0.18593	0.0446	N	0.08118	0	0.28954	N	0.890258	D	0.62365	0.991	P	0.56700	0.804	T	0.09773	-1.0659	10	0.66056	D	0.02	.	11.6728	0.51413	0.1396:0.7262:0.1342:0.0	.	498	O60281	ZN292_HUMAN	Y	498;493	ENSP00000358590:S498Y;ENSP00000342847:S493Y	ENSP00000342847:S493Y	S	+	2	0	ZNF292	88021559	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	1.498000	0.35660	1.389000	0.46526	-0.156000	0.13503	TCT	ZNF292	-	NULL	ENSG00000188994		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	597	0.17	1	C	NM_015021		87964840	87964840	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	423	12.24	59	SNP	1.000	A
ZNF292	23036	genome.wustl.edu	37	6	87969164	87969164	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:87969164G>T	ENST00000369577.3	+	8	5860	c.5817G>T	c.(5815-5817)aaG>aaT	p.K1939N	ZNF292_ENST00000339907.4_Missense_Mutation_p.K1934N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1939						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATTAAGAAGAATCAATTGA	0.358																																						dbGAP											0													23.0	23.0	23.0					6																	87969164		1824	4065	5889	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5817G>T	6.37:g.87969164G>T	ENSP00000358590:p.Lys1939Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K1939N	ENST00000369577.3	37	c.5817	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092408	0.36952	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08984	3.03;3.05	6.11	3.38	0.38709	.	0.129889	0.64402	D	0.000001	T	0.10766	0.0263	L	0.46819	1.47	0.33477	D	0.58689	D	0.76494	0.999	D	0.80764	0.994	T	0.02226	-1.1192	10	0.66056	D	0.02	.	9.9324	0.41530	0.3712:0.0:0.6288:0.0	.	1939	O60281	ZN292_HUMAN	N	1939;1934	ENSP00000358590:K1939N;ENSP00000342847:K1934N	ENSP00000342847:K1934N	K	+	3	2	ZNF292	88025883	0.963000	0.33076	1.000000	0.80357	0.988000	0.76386	0.299000	0.19138	0.918000	0.36919	-0.137000	0.14449	AAG	ZNF292	-	NULL	ENSG00000188994		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	45	0.00	0	G	NM_015021		87969164	87969164	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	0.999	T
ZNF292	23036	genome.wustl.edu	37	6	87969864	87969864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:87969864C>T	ENST00000369577.3	+	8	6560	c.6517C>T	c.(6517-6519)Cga>Tga	p.R2173*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2168*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2173						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAGAATTTCGATGTCAGGT	0.368																																						dbGAP											0													150.0	150.0	150.0					6																	87969864		1841	4090	5931	-	-	-	SO:0001587	stop_gained	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6517C>T	6.37:g.87969864C>T	ENSP00000358590:p.Arg2173*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2173*	ENST00000369577.3	37	c.6517	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	45	11.603191	0.99581	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	.	.	.	5.54	1.34	0.21922	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3516	0.83215	0.7033:0.2967:0.0:0.0	.	.	.	.	X	2173;2168;91	.	ENSP00000342847:R2168X	R	+	1	2	ZNF292	88026583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.893000	0.28336	0.218000	0.20820	0.591000	0.81541	CGA	ZNF292	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188994		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	158	0.00	0	C	NM_015021		87969864	87969864	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	nonsense	110	17.16	23	SNP	1.000	T
ZNF292	23036	genome.wustl.edu	37	6	87969889	87969889	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:87969889G>A	ENST00000369577.3	+	8	6585	c.6542G>A	c.(6541-6543)cGa>cAa	p.R2181Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2176Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2181						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GACTGTTCTCGAATTTTCCAA	0.383																																						dbGAP											0													186.0	184.0	184.0					6																	87969889		1854	4094	5948	-	-	-	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6542G>A	6.37:g.87969889G>A	ENSP00000358590:p.Arg2181Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2181Q	ENST00000369577.3	37	c.6542	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652121	0.88056	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.44083	0.93;0.93;0.93	5.54	5.54	0.83059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.118400	0.56097	D	0.000036	T	0.64080	0.2566	M	0.84433	2.695	0.32494	N	0.539825	D	0.89917	1.0	D	0.79108	0.992	T	0.68957	-0.5272	10	0.66056	D	0.02	.	19.4685	0.94952	0.0:0.0:1.0:0.0	.	2181	O60281	ZN292_HUMAN	Q	2181;2176;99	ENSP00000358590:R2181Q;ENSP00000342847:R2176Q;ENSP00000428857:R99Q	ENSP00000342847:R2176Q	R	+	2	0	ZNF292	88026608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.308000	0.72820	2.601000	0.87937	0.591000	0.81541	CGA	ZNF292	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188994		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	159	0.00	0	G	NM_015021		87969889	87969889	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	missense	95	26.36	34	SNP	0.991	A
ZNF292	23036	genome.wustl.edu	37	6	87971192	87971192	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:87971192G>A	ENST00000369577.3	+	8	7888	c.7845G>A	c.(7843-7845)ccG>ccA	p.P2615P	ZNF292_ENST00000339907.4_Silent_p.P2610P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2615						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGACCATCCGAATACTGGAA	0.368																																						dbGAP											0													37.0	34.0	35.0					6																	87971192		1854	4100	5954	-	-	-	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7845G>A	6.37:g.87971192G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P2615	ENST00000369577.3	37	c.7845	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	125	0.00	0	G	NM_015021		87971192	87971192	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	silent	77	23.76	24	SNP	0.891	A
ZNF300	91975	genome.wustl.edu	37	5	150276248	150276248	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:150276248G>T	ENST00000274599.5	-	6	973	c.553C>A	c.(553-555)Cat>Aat	p.H185N	ZNF300_ENST00000418587.2_Missense_Mutation_p.H149N|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.H185N|ZNF300_ENST00000446148.2_Missense_Mutation_p.H201N	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATATTTATGGAATCTCTGT	0.333																																						dbGAP											0													71.0	75.0	74.0					5																	150276248		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.553C>A	5.37:g.150276248G>T	ENSP00000274599:p.His185Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H201N	ENST00000274599.5	37	c.601	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	G	8.044	0.764417	0.15914	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08984	3.12;3.12;3.03;3.12	2.86	1.06	0.20224	.	.	.	.	.	T	0.05914	0.0154	L	0.27053	0.805	0.09310	N	1	B	0.31730	0.337	B	0.29176	0.099	T	0.35895	-0.9770	9	0.59425	D	0.04	.	6.8271	0.23889	0.2491:0.0:0.7509:0.0	.	185	Q96RE9	ZN300_HUMAN	N	201;185;149;185	ENSP00000397178:H201N;ENSP00000274599:H185N;ENSP00000392593:H149N;ENSP00000377773:H185N	ENSP00000274599:H185N	H	-	1	0	ZNF300	150256441	0.000000	0.05858	0.194000	0.23346	0.651000	0.38670	0.542000	0.23222	0.275000	0.22094	0.557000	0.71058	CAT	ZNF300	-	NULL	ENSG00000145908		0.333	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		106	0.00	0	G	NM_052860		150276248	150276248	-1	no_errors	ENST00000446148	ensembl	human	known	69_37n	missense	91	11.65	12	SNP	0.010	T
ZNF317	57693	genome.wustl.edu	37	19	9271604	9271604	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9271604G>A	ENST00000247956.6	+	7	1588	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF317_ENST00000360385.3_Missense_Mutation_p.R396Q	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R428Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AAGACCTTCCGAAACCAGTCC	0.527																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											76.0	76.0	76.0					19																	9271604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1283G>A	19.37:g.9271604G>A	ENSP00000247956:p.Arg428Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R428Q	ENST00000247956.6	37	c.1283	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229953	0.39399	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.04275	3.66;3.66	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35615	N	0.003091	T	0.11367	0.0277	L	0.42581	1.335	0.09310	N	1	D;D	0.71674	0.991;0.998	P;D	0.79108	0.461;0.992	T	0.03910	-1.0993	10	0.40728	T	0.16	-28.3521	8.0713	0.30691	0.0:0.2519:0.7481:0.0	.	396;428	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	Q	428;396	ENSP00000247956:R428Q;ENSP00000353554:R396Q	ENSP00000247956:R428Q	R	+	2	0	ZNF317	9132604	0.000000	0.05858	0.068000	0.19968	0.844000	0.47949	-0.554000	0.06006	1.958000	0.56883	0.491000	0.48974	CGA	ZNF317	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130803		0.527	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	261	0.38	1	G	NM_020933		9271604	9271604	+1	no_errors	ENST00000247956	ensembl	human	known	69_37n	missense	135	31.84	64	SNP	0.015	A
ZNF318	24149	genome.wustl.edu	37	6	43305691	43305691	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:43305691C>T	ENST00000361428.2	-	10	6122	c.6045G>A	c.(6043-6045)ggG>ggA	p.G2015G	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2015					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCCAGATTCCCCAGGGCAG	0.458																																						dbGAP											0													104.0	98.0	100.0					6																	43305691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.6045G>A	6.37:g.43305691C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.G2015	ENST00000361428.2	37	c.6045	CCDS4895.2	6																																																																																			ZNF318	-	NULL	ENSG00000171467		0.458	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	203	0.00	0	C	NM_014345		43305691	43305691	-1	no_errors	ENST00000361428	ensembl	human	known	69_37n	silent	186	31.62	86	SNP	0.000	T
ZNF32	7580	genome.wustl.edu	37	10	44140114	44140114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:44140114G>T	ENST00000395797.1	-	3	394	c.206C>A	c.(205-207)tCa>tAa	p.S69*	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32_ENST00000374433.2_Nonsense_Mutation_p.S69*|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	69					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CACTCCAGGTGAATCTTCCTG	0.453																																						dbGAP											0													135.0	135.0	135.0					10																	44140114		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.206C>A	10.37:g.44140114G>T	ENSP00000379143:p.Ser69*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92951	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S69*	ENST00000395797.1	37	c.206	CCDS7206.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609035	0.87258	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	.	.	.	4.52	4.52	0.55395	.	0.202481	0.24937	N	0.034418	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-0.5892	13.0593	0.58997	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000363556:S69X	S	-	2	0	ZNF32	43460120	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.561000	0.60809	2.796000	0.96246	0.655000	0.94253	TCA	ZNF32	-	NULL	ENSG00000169740		0.453	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	HGNC	protein_coding	OTTHUMT00000047723.1	94	0.00	0	G	NM_006973		44140114	44140114	-1	no_errors	ENST00000374433	ensembl	human	known	69_37n	nonsense	69	27.37	26	SNP	1.000	T
ZNF320	162967	genome.wustl.edu	37	19	53384766	53384766	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53384766C>T	ENST00000595635.1	-	8	1114	c.613G>A	c.(613-615)Gca>Aca	p.A205T	ZNF320_ENST00000391781.2_Missense_Mutation_p.A205T|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTATGTTTTGCCAGGTGTGAA	0.368																																						dbGAP											0													104.0	95.0	98.0					19																	53384766		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.613G>A	19.37:g.53384766C>T	ENSP00000473091:p.Ala205Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A205T	ENST00000595635.1	37	c.613	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	0.492	-0.875134	0.02550	.	.	ENSG00000182986	ENST00000391781	T	0.08008	3.14	1.75	-3.49	0.04724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.03608	-0.345	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.40850	-0.9541	9	0.02654	T	1	.	4.234	0.10616	0.0:0.291:0.1842:0.5248	.	205	A2RRD8	ZN320_HUMAN	T	205	ENSP00000375660:A205T	ENSP00000375660:A205T	A	-	1	0	ZNF320	58076578	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-1.659000	0.01975	-1.180000	0.02734	0.194000	0.17425	GCA	ZNF320	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182986		0.368	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	422	0.47	2	C	NM_207333		53384766	53384766	-1	no_errors	ENST00000391781	ensembl	human	known	69_37n	missense	408	10.53	48	SNP	0.000	T
ZNF324B	388569	genome.wustl.edu	37	19	58965130	58965130	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58965130C>T	ENST00000336614.4	+	2	169	c.62C>T	c.(61-63)gCg>gTg	p.A21V	ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A21V|ZNF324B_ENST00000594214.1_Missense_Mutation_p.A21V	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGACACAGCGCAGAGGGCC	0.572																																						dbGAP											0													137.0	99.0	111.0					19																	58965130		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.62C>T	19.37:g.58965130C>T	ENSP00000337473:p.Ala21Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A21V	ENST00000336614.4	37	c.62	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	C	5.927	0.355001	0.11239	.	.	ENSG00000249471	ENST00000336614;ENST00000545523	T;T	0.02498	4.27;4.27	2.99	1.94	0.25998	Krueppel-associated box (4);	0.925481	0.08872	N	0.881444	T	0.04634	0.0126	M	0.71296	2.17	0.09310	N	0.999997	B	0.13145	0.007	B	0.13407	0.009	T	0.40040	-0.9584	10	0.51188	T	0.08	.	4.0949	0.09986	0.0:0.6123:0.2453:0.1424	.	21	Q6AW86	Z324B_HUMAN	V	21	ENSP00000337473:A21V;ENSP00000438930:A21V	ENSP00000337473:A21V	A	+	2	0	ZNF324B	63656942	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	0.067000	0.14510	0.445000	0.26639	0.467000	0.42956	GCG	ZNF324B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000249471		0.572	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	167	0.00	0	C	NM_207395		58965130	58965130	+1	no_errors	ENST00000336614	ensembl	human	known	69_37n	missense	117	15.83	22	SNP	0.001	T
ZNF330	27309	genome.wustl.edu	37	4	142155135	142155135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:142155135G>T	ENST00000262990.4	+	10	1183	c.955G>T	c.(955-957)Gag>Tag	p.E319*	ZNF330_ENST00000421169.2_Nonsense_Mutation_p.E259*	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	319						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TGAGGAACAAGAGAACTAGGG	0.448																																						dbGAP											0													88.0	93.0	91.0					4																	142155135		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.955G>T	4.37:g.142155135G>T	ENSP00000262990:p.Glu319*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDA3	Nonsense_Mutation	SNP	pfam_NOA36	p.E319*	ENST00000262990.4	37	c.955	CCDS3754.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.582986	0.97684	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	.	.	.	6.07	5.22	0.72569	.	0.235349	0.40064	N	0.001187	.	.	.	.	.	.	0.47621	D	0.999477	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.4853	14.8046	0.69942	0.0683:0.0:0.9317:0.0	.	.	.	.	X	319;259	.	ENSP00000262990:E319X	E	+	1	0	ZNF330	142374585	.	.	0.994000	0.49952	0.960000	0.62799	.	.	2.884000	0.98904	0.655000	0.94253	GAG	ZNF330	-	NULL	ENSG00000109445		0.448	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF330	HGNC	protein_coding	OTTHUMT00000257271.2	158	0.00	0	G	NM_014487		142155135	142155135	+1	no_errors	ENST00000262990	ensembl	human	known	69_37n	nonsense	103	14.17	17	SNP	0.988	T
ZNF331	55422	genome.wustl.edu	37	19	54080796	54080796	+	Nonsense_Mutation	SNP	G	G	T	rs199963956		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:54080796G>T	ENST00000253144.9	+	7	2315	c.982G>T	c.(982-984)Gaa>Taa	p.E328*	ZNF331_ENST00000511154.1_Nonsense_Mutation_p.E328*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.E328*|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000449416.1_Nonsense_Mutation_p.E328*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.E328*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.E328*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.E328*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAGCCTCACGAATGTAAGGA	0.507			T	?	follicular thyroid adenoma																																	dbGAP		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													95.0	83.0	87.0					19																	54080796		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.982G>T	19.37:g.54080796G>T	ENSP00000253144:p.Glu328*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96GJ4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E328*	ENST00000253144.9	37	c.982	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923630	0.73213	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	.	.	.	3.91	3.91	0.45181	.	0.000000	0.35677	N	0.003045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.0743	0.36511	0.0:0.0:0.7807:0.2193	.	.	.	.	X	328	.	ENSP00000253144:E328X	E	+	1	0	ZNF331	58772608	0.000000	0.05858	0.742000	0.31022	0.223000	0.24884	-0.721000	0.04963	2.179000	0.69175	0.655000	0.94253	GAA	ZNF331	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130844		0.507	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	134	0.00	0	G	NM_018555		54080796	54080796	+1	no_errors	ENST00000253144	ensembl	human	known	69_37n	nonsense	120	14.29	20	SNP	0.005	T
ZNF331	55422	genome.wustl.edu	37	19	54080889	54080889	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:54080889G>T	ENST00000253144.9	+	7	2408	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	ZNF331_ENST00000511154.1_Nonsense_Mutation_p.E359*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.E359*|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000449416.1_Nonsense_Mutation_p.E359*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.E359*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.E359*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.E359*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAAGTGCACAGAATGTGGGAA	0.527			T	?	follicular thyroid adenoma																																	dbGAP		Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													106.0	92.0	97.0					19																	54080889		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1075G>T	19.37:g.54080889G>T	ENSP00000253144:p.Glu359*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96GJ4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E359*	ENST00000253144.9	37	c.1075	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635494	0.67130	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	.	.	.	4.08	0.233	0.15386	.	0.227469	0.22390	N	0.060690	.	.	.	.	.	.	0.47862	D	0.999538	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.2504	0.26146	0.1034:0.5233:0.3733:0.0	.	.	.	.	X	359	.	ENSP00000253144:E359X	E	+	1	0	ZNF331	58772701	0.000000	0.05858	0.012000	0.15200	0.269000	0.26545	0.201000	0.17276	0.436000	0.26393	0.655000	0.94253	GAA	ZNF331	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130844		0.527	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	154	0.00	0	G	NM_018555		54080889	54080889	+1	no_errors	ENST00000253144	ensembl	human	known	69_37n	nonsense	108	16.28	21	SNP	0.000	T
ZNF334	55713	genome.wustl.edu	37	20	45130434	45130434	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45130434T>G	ENST00000347606.4	-	5	1726	c.1544A>C	c.(1543-1545)aAt>aCt	p.N515T	ZNF334_ENST00000457685.2_Missense_Mutation_p.N477T|ZNF334_ENST00000593880.1_Missense_Mutation_p.N538T	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCATAAAGATTCTCCTTTGT	0.398																																						dbGAP											0													203.0	188.0	193.0					20																	45130434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1544A>C	20.37:g.45130434T>G	ENSP00000255129:p.Asn515Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N515T	ENST00000347606.4	37	c.1544	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	T	5.381	0.255466	0.10185	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.41400	1.0;1.0	3.45	2.31	0.28768	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26048	0.0635	N	0.16233	0.39	0.31449	N	0.670962	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.20974	-1.0259	9	0.72032	D	0.01	.	8.083	0.30756	0.0:0.0:0.206:0.794	.	477;515;538	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	477;515	ENSP00000402582:N477T;ENSP00000255129:N515T	ENSP00000255129:N515T	N	-	2	0	ZNF334	44563841	0.000000	0.05858	0.007000	0.13788	0.020000	0.10135	-0.326000	0.07965	0.489000	0.27749	-0.438000	0.05819	AAT	ZNF334	-	NULL	ENSG00000198185		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	45	0.00	0	T			45130434	45130434	-1	no_errors	ENST00000347606	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	0.965	G
ZNF334	55713	genome.wustl.edu	37	20	45131188	45131188	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45131188G>A	ENST00000347606.4	-	5	972	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	ZNF334_ENST00000457685.2_Missense_Mutation_p.P226S|ZNF334_ENST00000593880.1_Missense_Mutation_p.P287S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAACATACGGTTTCTCCCCT	0.398																																						dbGAP											0													100.0	101.0	101.0					20																	45131188		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.790C>T	20.37:g.45131188G>A	ENSP00000255129:p.Pro264Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P264S	ENST00000347606.4	37	c.790	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553264	0.27739	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.55930	2.32;0.49	3.45	1.43	0.22495	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51618	0.1685	M	0.73372	2.23	0.09310	N	1	D;D;D	0.53745	0.962;0.962;0.962	P;P;P	0.45856	0.495;0.495;0.495	T	0.45542	-0.9254	9	0.66056	D	0.02	.	5.6773	0.17755	0.1105:0.0:0.6953:0.1942	.	226;264;287	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	S	226;264	ENSP00000402582:P226S;ENSP00000255129:P264S	ENSP00000255129:P264S	P	-	1	0	ZNF334	44564595	0.041000	0.20044	0.002000	0.10522	0.170000	0.22686	1.366000	0.34193	0.262000	0.21774	0.591000	0.81541	CCG	ZNF334	-	pfscan_Znf_C2H2	ENSG00000198185		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	66	0.00	0	G			45131188	45131188	-1	no_errors	ENST00000347606	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	0.160	A
ZNF334	55713	genome.wustl.edu	37	20	45131208	45131208	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:45131208C>T	ENST00000347606.4	-	5	952	c.770G>A	c.(769-771)aGa>aAa	p.R257K	ZNF334_ENST00000457685.2_Missense_Mutation_p.R219K|ZNF334_ENST00000593880.1_Missense_Mutation_p.R280K	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATGAATTCTCTGATGTAC	0.398																																						dbGAP											0													92.0	93.0	93.0					20																	45131208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.770G>A	20.37:g.45131208C>T	ENSP00000255129:p.Arg257Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R257K	ENST00000347606.4	37	c.770	CCDS33480.1	20	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547226	0.27652	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.18338	2.22;2.22	3.24	-0.0116	0.13991	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	L	0.28740	0.885	0.27050	N	0.963794	B;B;B	0.30033	0.266;0.266;0.054	B;B;B	0.21360	0.034;0.034;0.021	T	0.25257	-1.0137	9	0.40728	T	0.16	.	5.0942	0.14725	0.3612:0.5313:0.0:0.1075	.	219;257;280	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	K	219;257	ENSP00000402582:R219K;ENSP00000255129:R257K	ENSP00000255129:R257K	R	-	2	0	ZNF334	44564615	0.006000	0.16342	0.866000	0.34008	0.878000	0.50629	0.082000	0.14847	-0.086000	0.12550	-0.282000	0.10007	AGA	ZNF334	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198185		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	HGNC	protein_coding	OTTHUMT00000079575.1	73	0.00	0	C			45131208	45131208	-1	no_errors	ENST00000347606	ensembl	human	known	69_37n	missense	71	21.98	20	SNP	1.000	T
ZNF33B	7582	genome.wustl.edu	37	10	43089791	43089791	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:43089791G>A	ENST00000359467.3	-	5	721	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTGTTCTCACGATGACTCAGA	0.343																																					Melanoma(137;1247 1767 16772 25727 43810)	dbGAP											0													127.0	127.0	127.0					10																	43089791		2203	4300	6503	-	-	-	SO:0001583	missense	0			X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.607C>T	10.37:g.43089791G>A	ENSP00000352444:p.Arg203Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R203C	ENST00000359467.3	37	c.607	CCDS7198.1	10	.	.	.	.	.	.	.	.	.	.	G	1.781	-0.482036	0.04383	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.05580	3.42	2.28	-4.56	0.03431	.	2.588210	0.01694	N	0.026806	T	0.04272	0.0118	L	0.34521	1.04	0.09310	N	1	P	0.44816	0.844	B	0.36418	0.224	T	0.24870	-1.0148	10	0.52906	T	0.07	.	1.2406	0.01962	0.1314:0.2297:0.3186:0.3203	.	203	Q06732	ZN33B_HUMAN	C	203;169	ENSP00000352444:R203C	ENSP00000352444:R203C	R	-	1	0	ZNF33B	42409797	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.276000	0.08514	-1.447000	0.01943	0.416000	0.27883	CGT	ZNF33B	-	NULL	ENSG00000196693		0.343	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF33B	HGNC	protein_coding		152	0.00	0	G	NM_006955		43089791	43089791	-1	no_errors	ENST00000359467	ensembl	human	known	69_37n	missense	123	24.54	40	SNP	0.000	A
ZNF34	80778	genome.wustl.edu	37	8	145998981	145998981	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:145998981G>A	ENST00000343459.4	-	6	1418	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	ZNF34_ENST00000429371.2_Silent_p.D430D			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTTTGCCACAGTCATTGCATT	0.468																																						dbGAP											0													75.0	77.0	76.0					8																	145998981		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1353C>T	8.37:g.145998981G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWN1|Q9BSZ0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D451	ENST00000343459.4	37	c.1353	CCDS47945.1	8																																																																																			ZNF34	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196378		0.468	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	150	0.00	0	G	NM_030580		145998981	145998981	-1	no_errors	ENST00000343459	ensembl	human	known	69_37n	silent	113	26.28	41	SNP	0.134	A
ZNF346	23567	genome.wustl.edu	37	5	176471522	176471522	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:176471522A>G	ENST00000358149.3	+	4	548	c.505A>G	c.(505-507)Act>Gct	p.T169A	ZNF346_ENST00000503425.1_Missense_Mutation_p.T137A|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.T194A|ZNF346_ENST00000503039.1_Missense_Mutation_p.T194A|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.T169A	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	169					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGTCCACTAAGGTGGA	0.562																																						dbGAP											0													129.0	121.0	123.0					5																	176471522		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.505A>G	5.37:g.176471522A>G	ENSP00000350869:p.Thr169Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	smart_Znf_U1,smart_Znf_C2H2-like	p.T194A	ENST00000358149.3	37	c.580	CCDS4409.1	5	.	.	.	.	.	.	.	.	.	.	A	5.966	0.362296	0.11296	.	.	ENSG00000113761	ENST00000358149;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T	0.45668	0.91;0.89;0.93;0.96;0.93	4.69	-2.3	0.06785	.	0.953891	0.08710	N	0.905055	T	0.19725	0.0474	N	0.13043	0.29	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.21518	-1.0243	10	0.24483	T	0.36	.	3.3317	0.07087	0.2762:0.1753:0.4314:0.117	.	137;194;169	B7Z367;Q9UL40-2;Q9UL40	.;.;ZN346_HUMAN	A	169;137;194;169;194	ENSP00000350869:T169A;ENSP00000421212:T137A;ENSP00000261948:T194A;ENSP00000425725:T169A;ENSP00000424495:T194A	ENSP00000261948:T194A	T	+	1	0	ZNF346	176404128	1.000000	0.71417	0.989000	0.46669	0.627000	0.37826	1.456000	0.35201	-0.039000	0.13602	0.514000	0.50259	ACT	ZNF346	-	NULL	ENSG00000113761		0.562	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF346	HGNC	protein_coding	OTTHUMT00000253415.2	246	0.00	0	A	NM_012279		176471522	176471522	+1	no_errors	ENST00000261948	ensembl	human	known	69_37n	missense	235	20.07	59	SNP	0.153	G
ZNF354B	117608	genome.wustl.edu	37	5	178310945	178310945	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:178310945G>A	ENST00000322434.3	+	5	1718	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	RNU1-39P_ENST00000383897.1_RNA|ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAGTGTAACGAATGTGACAA	0.388																																						dbGAP											0													114.0	111.0	112.0					5																	178310945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1492G>A	5.37:g.178310945G>A	ENSP00000327143:p.Glu498Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E498K	ENST00000322434.3	37	c.1492	CCDS4439.1	5	.	.	.	.	.	.	.	.	.	.	G	7.805	0.714447	0.15306	.	.	ENSG00000178338	ENST00000322434	T	0.07327	3.2	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.35854	1.095	0.09310	N	1	P	0.39940	0.696	B	0.34301	0.179	T	0.27872	-1.0061	9	0.62326	D	0.03	-23.8514	6.9101	0.24331	0.1251:0.0:0.8749:0.0	.	498	Q96LW1	Z354B_HUMAN	K	498	ENSP00000327143:E498K	ENSP00000327143:E498K	E	+	1	0	ZNF354B	178243551	0.000000	0.05858	0.089000	0.20774	0.017000	0.09413	0.791000	0.26915	1.894000	0.54839	0.555000	0.69702	GAA	ZNF354B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178338		0.388	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354B	HGNC	protein_coding	OTTHUMT00000253482.1	166	0.60	1	G	NM_058230		178310945	178310945	+1	no_errors	ENST00000322434	ensembl	human	known	69_37n	missense	144	15.29	26	SNP	0.001	A
ZNF362	149076	genome.wustl.edu	37	1	33736159	33736159	+	5'UTR	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:33736159G>T	ENST00000539719.1	+	0	154				ZNF362_ENST00000490959.2_3'UTR|ZNF362_ENST00000373428.5_5'Flank	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				gggaacacttgagctgggtct	0.478																																					Pancreas(162;1431 2676 35353 38425)	dbGAP											0													183.0	166.0	172.0					1																	33736159		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.-17G>T	1.37:g.33736159G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYU4	RNA	SNP	-	NULL	ENST00000539719.1	37	NULL	CCDS377.1	1																																																																																			ZNF362	-	-	ENSG00000160094		0.478	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF362	HGNC	protein_coding	OTTHUMT00000011857.2	203	0.00	0	G	NM_152493		33736159	33736159	+1	no_errors	ENST00000490959	ensembl	human	known	69_37n	rna	146	15.12	26	SNP	1.000	T
ZNF37A	7587	genome.wustl.edu	37	10	38407035	38407035	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:38407035G>T	ENST00000361085.5	+	7	1301	c.956G>T	c.(955-957)aGa>aTa	p.R319I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R319I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAACATCAAAGAATTCATACA	0.423																																						dbGAP											0													70.0	75.0	74.0					10																	38407035		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.956G>T	10.37:g.38407035G>T	ENSP00000354377:p.Arg319Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R319I	ENST00000361085.5	37	c.956	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305237	0.40795	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.02446	4.29;4.29	2.34	0.386	0.16254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	M	0.79614	2.46	0.44432	D	0.997357	P	0.45212	0.853	B	0.34180	0.177	T	0.49273	-0.8957	9	0.56958	D	0.05	.	5.8816	0.18858	0.3146:0.0:0.6854:0.0	.	319	P17032	ZN37A_HUMAN	I	319	ENSP00000329141:R319I;ENSP00000354377:R319I	ENSP00000329141:R319I	R	+	2	0	ZNF37A	38447041	0.015000	0.18098	0.994000	0.49952	0.576000	0.36127	1.712000	0.37940	0.322000	0.23283	0.591000	0.81541	AGA	ZNF37A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000075407		0.423	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	128	0.00	0	G	NM_003421		38407035	38407035	+1	no_errors	ENST00000351773	ensembl	human	known	69_37n	missense	97	26.52	35	SNP	0.995	T
ZNF382	84911	genome.wustl.edu	37	19	37117512	37117512	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37117512G>T	ENST00000292928.2	+	5	826	c.713G>T	c.(712-714)aGa>aTa	p.R238I	ZNF382_ENST00000435416.1_Missense_Mutation_p.R237I|ZNF382_ENST00000423582.1_Missense_Mutation_p.R189I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R237I|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	238					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGGAGAAAGAACCTTTGAA	0.393																																						dbGAP											0													61.0	59.0	60.0					19																	37117512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.713G>T	19.37:g.37117512G>T	ENSP00000292928:p.Arg238Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R238I	ENST00000292928.2	37	c.713	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825403	0.32237	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	4.59	-0.429	0.12303	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.718893	0.12058	N	0.503474	T	0.20659	0.0497	M	0.70108	2.13	0.26756	N	0.9701	P;P;B	0.35656	0.514;0.514;0.38	B;B;B	0.38755	0.281;0.281;0.146	T	0.19321	-1.0309	10	0.66056	D	0.02	.	8.1924	0.31376	0.4329:0.0:0.5671:0.0	.	237;237;238	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	189;238;237;237	ENSP00000389722:R189I;ENSP00000292928:R238I;ENSP00000407593:R237I;ENSP00000410113:R237I	ENSP00000292928:R238I	R	+	2	0	ZNF382	41809352	0.292000	0.24362	0.233000	0.24025	0.969000	0.65631	0.622000	0.24433	0.137000	0.18759	0.467000	0.42956	AGA	ZNF382	-	pfscan_Znf_C2H2	ENSG00000161298		0.393	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	60	0.00	0	G	NM_032825		37117512	37117512	+1	no_errors	ENST00000292928	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	0.183	T
ZNF382	84911	genome.wustl.edu	37	19	37117746	37117746	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37117746G>A	ENST00000292928.2	+	5	1060	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	ZNF382_ENST00000435416.1_Missense_Mutation_p.R315Q|ZNF382_ENST00000423582.1_Missense_Mutation_p.R267Q|ZNF382_ENST00000439428.1_Missense_Mutation_p.R315Q|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	316	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				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)	p.R316Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACATCAGCGAATTCACACA	0.423																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											89.0	88.0	88.0					19																	37117746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.947G>A	19.37:g.37117746G>A	ENSP00000292928:p.Arg316Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R316Q	ENST00000292928.2	37	c.947	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015518	0.75161	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34223	N	0.004160	T	0.41834	0.1176	M	0.81341	2.54	0.29388	N	0.862855	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.54759	0.646;0.646;0.76	T	0.48670	-0.9015	10	0.87932	D	0	.	8.5603	0.33507	0.1042:0.0:0.8958:0.0	.	315;315;316	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	Q	267;316;315;315	ENSP00000389722:R267Q;ENSP00000292928:R316Q;ENSP00000407593:R315Q;ENSP00000410113:R315Q	ENSP00000292928:R316Q	R	+	2	0	ZNF382	41809586	0.000000	0.05858	1.000000	0.80357	0.974000	0.67602	0.207000	0.17395	2.481000	0.83766	0.591000	0.81541	CGA	ZNF382	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000161298		0.423	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	111	0.00	0	G	NM_032825		37117746	37117746	+1	no_errors	ENST00000292928	ensembl	human	known	69_37n	missense	135	13.46	21	SNP	0.999	A
ZNF384	171017	genome.wustl.edu	37	12	6788573	6788573	+	Intron	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr12:6788573G>T	ENST00000396801.3	-	3	274				ZNF384_ENST00000361959.3_Intron|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000396795.1_Intron	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384						nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CATAGTAACAGAACTTACTAC	0.478			T	"""EWSR1, TAF15 """	ALL																																	dbGAP		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													82.0	66.0	71.0					12																	6788573		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.66+47C>A	12.37:g.6788573G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15407|Q7Z722|Q8N938	RNA	SNP	-	NULL	ENST00000396801.3	37	NULL	CCDS44817.1	12																																																																																			ZNF384	-	-	ENSG00000126746		0.478	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	168	0.00	0	G			6788573	6788573	-1	no_errors	ENST00000542605	ensembl	human	putative	69_37n	rna	118	28.92	48	SNP	0.000	T
ZNF395	55893	genome.wustl.edu	37	8	28206692	28206692	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:28206692C>A	ENST00000344423.5	-	9	1511	c.1380G>T	c.(1378-1380)atG>atT	p.M460I	ZNF395_ENST00000523095.1_Missense_Mutation_p.M460I|ZNF395_ENST00000523202.1_Missense_Mutation_p.M460I	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GATGAGATTTCATCGCAGGTG	0.627																																						dbGAP											0													108.0	112.0	111.0					8																	28206692		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1380G>T	8.37:g.28206692C>A	ENSP00000340494:p.Met460Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.M460I	ENST00000344423.5	37	c.1380	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032741	0.19590	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.40476	1.03;1.03;1.03	5.11	2.3	0.28687	.	1.099150	0.06692	N	0.769809	T	0.22551	0.0544	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09930	-1.0652	10	0.30854	T	0.27	-2.6707	5.063	0.14566	0.0:0.6445:0.1713:0.1842	.	460	Q9H8N7	ZN395_HUMAN	I	460	ENSP00000340494:M460I;ENSP00000429640:M460I;ENSP00000428452:M460I	ENSP00000340494:M460I	M	-	3	0	ZNF395	28262611	0.825000	0.29262	0.779000	0.31741	0.812000	0.45895	1.313000	0.33585	0.314000	0.23086	0.655000	0.94253	ATG	ZNF395	-	NULL	ENSG00000186918		0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	197	0.00	0	C			28206692	28206692	-1	no_errors	ENST00000344423	ensembl	human	known	69_37n	missense	76	24.51	25	SNP	0.909	A
ZNF397	84307	genome.wustl.edu	37	18	32825747	32825747	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:32825747C>T	ENST00000330501.7	+	4	1231	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W	ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	360					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CATTAGACATCGGAAAATCCA	0.368																																						dbGAP											0													40.0	42.0	41.0					18																	32825747		692	1591	2283	-	-	-	SO:0001583	missense	0			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.1078C>T	18.37:g.32825747C>T	ENSP00000331577:p.Arg360Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R360W	ENST00000330501.7	37	c.1078	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184866	0.57909	.	.	ENSG00000186812	ENST00000330501	T	0.18810	2.19	4.23	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.279626	0.19356	N	0.116268	T	0.43656	0.1257	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.24799	-1.0150	9	.	.	.	.	14.4635	0.67467	0.0:1.0:0.0:0.0	.	360	Q8NF99	ZN397_HUMAN	W	360	ENSP00000331577:R360W	.	R	+	1	2	ZNF397	31079745	0.971000	0.33674	1.000000	0.80357	0.942000	0.58702	2.678000	0.46900	2.355000	0.79922	0.305000	0.20034	CGG	ZNF397	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186812		0.368	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	184	0.00	0	C	NM_032347		32825747	32825747	+1	no_errors	ENST00000330501	ensembl	human	known	69_37n	missense	110	17.91	24	SNP	1.000	T
ZNF404	342908	genome.wustl.edu	37	19	44377438	44377438	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:44377438G>A	ENST00000587539.1	-	3	927	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	ZNF404_ENST00000324394.6_Missense_Mutation_p.R308C	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGATAGCTGCGAACAAAGGCC	0.393																																						dbGAP											0													46.0	50.0	48.0					19																	44377438		2057	4221	6278	-	-	-	SO:0001583	missense	0			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.928C>T	19.37:g.44377438G>A	ENSP00000466051:p.Arg310Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU30|K7ELF2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R310C	ENST00000587539.1	37	c.928	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	G	0.660	-0.806203	0.02819	.	.	ENSG00000176222	ENST00000324394	T	0.36340	1.26	2.01	-0.213	0.13165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	M	0.70108	2.13	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.31668	-0.9935	9	0.35671	T	0.21	.	3.1718	0.06555	0.2703:0.0:0.5234:0.2063	.	310	Q494X3	ZN404_HUMAN	C	308	ENSP00000319479:R308C	ENSP00000319479:R308C	R	-	1	0	ZNF404	49069278	0.000000	0.05858	0.158000	0.22627	0.007000	0.05969	-0.019000	0.12546	0.005000	0.14708	0.404000	0.27445	CGC	ZNF404	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176222		0.393	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	116	0.00	0	G	NM_001033719		44377438	44377438	-1	no_errors	ENST00000587539	ensembl	human	known	69_37n	missense	50	37.04	30	SNP	0.002	A
ZNF407	55628	genome.wustl.edu	37	18	72515937	72515937	+	Intron	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:72515937G>A	ENST00000299687.5	+	3	4877				ZNF407_ENST00000582337.1_Missense_Mutation_p.R1632Q|ZNF407_ENST00000577538.1_Intron|ZNF407_ENST00000309902.6_Missense_Mutation_p.R1632Q	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTTGCATATCGAAAGATCGGG	0.438																																						dbGAP											0													133.0	117.0	122.0					18																	72515937		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4877+22479G>A	18.37:g.72515937G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.R1632Q	ENST00000299687.5	37	c.4895	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716067	0.48622	.	.	ENSG00000215421	ENST00000309902	T	0.05855	3.38	5.71	1.76	0.24704	.	.	.	.	.	T	0.04998	0.0134	.	.	.	0.09310	N	1	B	0.19935	0.04	B	0.14023	0.01	T	0.40251	-0.9573	8	0.48119	T	0.1	.	5.656	0.17642	0.1771:0.3295:0.4934:0.0	.	1632	Q9C0G0-3	.	Q	1632	ENSP00000310359:R1632Q	ENSP00000310359:R1632Q	R	+	2	0	ZNF407	70644925	0.001000	0.12720	0.001000	0.08648	0.922000	0.55478	0.040000	0.13905	-0.146000	0.11274	0.482000	0.46254	CGA	ZNF407	-	NULL	ENSG00000215421		0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	294	0.00	0	G	NM_017757		72515937	72515937	+1	no_errors	ENST00000309902	ensembl	human	known	69_37n	missense	210	11.72	28	SNP	0.000	A
ZNF41	7592	genome.wustl.edu	37	X	47307006	47307006	+	Silent	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47307006A>G	ENST00000377065.4	-	5	2802	c.2163T>C	c.(2161-2163)tgT>tgC	p.C721C	ZNF41_ENST00000313116.7_Silent_p.C721C|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Silent_p.C731C	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	763					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CACATTTACTACATTCATAGT	0.408																																						dbGAP											0													145.0	125.0	132.0					X																	47307006		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.2163T>C	X.37:g.47307006A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C731	ENST00000377065.4	37	c.2193	CCDS14279.1	X																																																																																			ZNF41	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147124		0.408	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	237	0.00	0	A	NM_153380		47307006	47307006	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	silent	218	11.74	29	SNP	0.706	G
ZNF41	7592	genome.wustl.edu	37	X	47308780	47308780	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47308780A>C	ENST00000377065.4	-	5	1028	c.389T>G	c.(388-390)tTa>tGa	p.L130*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.L130*|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.L140*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	172	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AATAGAACATAATGAATCTTC	0.378																																						dbGAP											0													69.0	58.0	62.0					X																	47308780		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.389T>G	X.37:g.47308780A>C	ENSP00000366265:p.Leu130*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L140*	ENST00000377065.4	37	c.419	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	A	15.11	2.734656	0.48939	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	.	.	.	3.1	3.1	0.35709	.	0.000000	0.29059	N	0.013261	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	7.0651	0.25147	1.0:0.0:0.0:0.0	.	.	.	.	X	130;130;140;140	.	ENSP00000315173:L130X	L	-	2	0	ZNF41	47193724	0.000000	0.05858	0.007000	0.13788	0.033000	0.12548	0.358000	0.20216	1.473000	0.48159	0.481000	0.45027	TTA	ZNF41	-	NULL	ENSG00000147124		0.378	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	132	0.00	0	A	NM_153380		47308780	47308780	-1	no_errors	ENST00000397050	ensembl	human	known	69_37n	nonsense	118	10.61	14	SNP	0.001	C
ZNF417	147687	genome.wustl.edu	37	19	58421205	58421205	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58421205G>T	ENST00000312026.5	-	3	605	c.441C>A	c.(439-441)ttC>ttA	p.F147L	ZNF417_ENST00000595559.1_Missense_Mutation_p.F146L|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTTTCTGTAGAATTTCTCTC	0.463																																						dbGAP											0													16.0	17.0	17.0					19																	58421205		1928	4014	5942	-	-	-	SO:0001583	missense	0			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.441C>A	19.37:g.58421205G>T	ENSP00000311319:p.Phe147Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F147L	ENST00000312026.5	37	c.441	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.790676	0.00623	.	.	ENSG00000173480	ENST00000312026	T	0.05025	3.51	1.75	-2.18	0.07037	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02533	0.0077	N	0.05199	-0.095	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.43410	-0.9393	9	0.37606	T	0.19	.	2.753	0.05286	0.4637:0.0:0.3229:0.2134	.	147;147	F5H0M9;Q8TAU3	.;ZN417_HUMAN	L	147	ENSP00000311319:F147L	ENSP00000311319:F147L	F	-	3	2	ZNF417	63113017	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.369000	0.02578	-0.463000	0.06973	0.298000	0.19748	TTC	ZNF417	-	pfscan_Znf_C2H2	ENSG00000173480		0.463	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	59	0.00	0	G	NM_152475		58421205	58421205	-1	no_errors	ENST00000312026	ensembl	human	known	69_37n	missense	38	28.30	15	SNP	0.000	T
ZNF418	147686	genome.wustl.edu	37	19	58437969	58437969	+	Missense_Mutation	SNP	C	C	T	rs535839531	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58437969C>T	ENST00000396147.1	-	4	1871	c.1580G>A	c.(1579-1581)cGa>cAa	p.R527Q	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.R548Q|ZNF418_ENST00000599852.1_Missense_Mutation_p.R442Q|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Missense_Mutation_p.R527Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R527Q(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCGATGTCGAAGGAGGGA	0.453													C|||	2	0.000399361	0.0	0.0	5008	,	,		23250	0.002		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											96.0	99.0	98.0					19																	58437969		2188	4294	6482	-	-	-	SO:0001583	missense	0			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1580G>A	19.37:g.58437969C>T	ENSP00000379451:p.Arg527Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R548Q	ENST00000396147.1	37	c.1643	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	2.280	-0.364946	0.05103	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.26223	1.75;1.75	2.41	-4.82	0.03171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	L	0.37800	1.135	0.09310	N	1	B	0.19073	0.033	B	0.06405	0.002	T	0.38993	-0.9635	9	0.09843	T	0.71	.	3.992	0.09541	0.4069:0.3687:0.0:0.2245	.	527	Q8TF45	ZN418_HUMAN	Q	527;548;493	ENSP00000379451:R527Q;ENSP00000407039:R548Q	ENSP00000379451:R527Q	R	-	2	0	ZNF418	63129781	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-2.519000	0.00952	-0.899000	0.03901	0.313000	0.20887	CGA	ZNF418	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196724		0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	138	0.00	0	C	NM_133460		58437969	58437969	-1	no_errors	ENST00000425570	ensembl	human	known	69_37n	missense	145	13.69	23	SNP	0.000	T
ZNF418	147686	genome.wustl.edu	37	19	58438323	58438323	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58438323C>T	ENST00000396147.1	-	4	1517	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.R430Q|ZNF418_ENST00000599852.1_Missense_Mutation_p.R324Q|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Missense_Mutation_p.R409Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GTGTCCCTTTCGACTAAAAGA	0.443																																						dbGAP											0													154.0	158.0	157.0					19																	58438323		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1226G>A	19.37:g.58438323C>T	ENSP00000379451:p.Arg409Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R430Q	ENST00000396147.1	37	c.1289	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	5.973	0.363530	0.11296	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07444	3.19;3.19	2.28	-2.43	0.06522	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	N	0.03000	-0.44	0.09310	N	1	B	0.26935	0.164	B	0.10450	0.005	T	0.43114	-0.9411	9	0.02654	T	1	.	8.1748	0.31275	0.0:0.4747:0.0:0.5253	.	409	Q8TF45	ZN418_HUMAN	Q	409;430;375	ENSP00000379451:R409Q;ENSP00000407039:R430Q	ENSP00000379451:R409Q	R	-	2	0	ZNF418	63130135	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-3.227000	0.00549	-0.734000	0.04843	0.298000	0.19748	CGA	ZNF418	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196724		0.443	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	199	0.00	0	C	NM_133460		58438323	58438323	-1	no_errors	ENST00000425570	ensembl	human	known	69_37n	missense	177	24.89	59	SNP	0.000	T
ZNF423	23090	genome.wustl.edu	37	16	49671463	49671463	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:49671463C>T	ENST00000561648.1	-	4	1653	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	ZNF423_ENST00000535559.1_Missense_Mutation_p.E417K|ZNF423_ENST00000562520.1_Missense_Mutation_p.E474K|ZNF423_ENST00000562871.1_Missense_Mutation_p.E474K|ZNF423_ENST00000567169.1_Missense_Mutation_p.E417K|ZNF423_ENST00000563137.2_Missense_Mutation_p.E474K|ZNF423_ENST00000262383.2_Missense_Mutation_p.E534K	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	534					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGATGTGCTCGGTGAGGGAG	0.587																																						dbGAP											0													91.0	96.0	95.0					16																	49671463		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1600G>A	16.37:g.49671463C>T	ENSP00000455426:p.Glu534Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E534K	ENST00000561648.1	37	c.1600	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649199	0.67358	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.27104	1.69;1.69	4.99	4.99	0.66335	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.34521	1.04	0.53005	D	0.999967	D	0.89917	1.0	D	0.79784	0.993	T	0.13045	-1.0524	9	.	.	.	.	18.2967	0.90148	0.0:1.0:0.0:0.0	.	534	Q2M1K9	ZN423_HUMAN	K	534;417	ENSP00000262383:E534K;ENSP00000442321:E417K	.	E	-	1	0	ZNF423	48228964	1.000000	0.71417	0.936000	0.37596	0.984000	0.73092	7.487000	0.81328	2.320000	0.78422	0.561000	0.74099	GAG	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102935		0.587	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	108	0.00	0	C	NM_015069		49671463	49671463	-1	no_errors	ENST00000262383	ensembl	human	known	69_37n	missense	47	37.33	28	SNP	1.000	T
ZNF430	80264	genome.wustl.edu	37	19	21239609	21239609	+	Silent	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:21239609A>C	ENST00000261560.5	+	5	676	c.495A>C	c.(493-495)ctA>ctC	p.L165L	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	165					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGATGAACTAAACCAGTGTT	0.303																																						dbGAP											0													68.0	69.0	69.0					19																	21239609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.495A>C	19.37:g.21239609A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V70	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L165	ENST00000261560.5	37	c.495	CCDS32978.1	19																																																																																			ZNF430	-	NULL	ENSG00000118620		0.303	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1	172	0.00	0	A	NM_025189		21239609	21239609	+1	no_errors	ENST00000261560	ensembl	human	known	69_37n	silent	119	22.22	34	SNP	0.009	C
ZNF431	170959	genome.wustl.edu	37	19	21349173	21349173	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:21349173C>A	ENST00000311048.7	+	3	276	c.132C>A	c.(130-132)ttC>ttA	p.F44L	ZNF431_ENST00000599296.1_Missense_Mutation_p.F44L|ZNF431_ENST00000600692.1_Missense_Mutation_p.F44L|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.F44L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						CCATAGAATTCTCTCTGGAGG	0.398																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											93.0	100.0	98.0					19																	21349173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.132C>A	19.37:g.21349173C>A	ENSP00000308578:p.Phe44Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F44L	ENST00000311048.7	37	c.132	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	10.14	1.269083	0.23221	.	.	ENSG00000196705	ENST00000311048	T	0.12879	2.64	0.659	0.659	0.17861	Krueppel-associated box (4);	.	.	.	.	T	0.36082	0.0954	M	0.92738	3.34	0.19775	N	0.999953	P	0.46784	0.884	P	0.55011	0.766	T	0.12091	-1.0561	8	0.62326	D	0.03	.	.	.	.	.	44	Q8TF32	ZN431_HUMAN	L	44	ENSP00000308578:F44L	ENSP00000308578:F44L	F	+	3	2	ZNF431	21141013	0.569000	0.26643	0.420000	0.26596	0.177000	0.22998	0.848000	0.27710	0.608000	0.30000	0.455000	0.32223	TTC	ZNF431	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196705		0.398	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	610	0.00	0	C	XM_086098		21349173	21349173	+1	no_errors	ENST00000311048	ensembl	human	known	69_37n	missense	311	25.60	107	SNP	0.592	A
ZNF441	126068	genome.wustl.edu	37	19	11891610	11891610	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11891610G>A	ENST00000357901.4	+	4	1073	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	ZNF441_ENST00000454339.2_Missense_Mutation_p.R257Q	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTTCAGTTCGAAGACATAAA	0.408																																						dbGAP											0													81.0	82.0	82.0					19																	11891610		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.971G>A	19.37:g.11891610G>A	ENSP00000350576:p.Arg324Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R324Q	ENST00000357901.4	37	c.971	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	13.42	2.233047	0.39498	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.04275	3.66;3.66	1.18	0.0864	0.14446	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.04373	-0.215	0.09310	N	1	B	0.33379	0.41	B	0.27715	0.082	T	0.46512	-0.9186	9	0.16896	T	0.51	.	3.411	0.07359	0.1792:0.0:0.5755:0.2452	.	324	Q8N8Z8	ZN441_HUMAN	Q	280;324;257	ENSP00000350576:R324Q;ENSP00000403738:R257Q	ENSP00000350576:R324Q	R	+	2	0	ZNF441	11752610	0.000000	0.05858	0.003000	0.11579	0.937000	0.57800	-1.340000	0.02650	0.076000	0.16826	0.298000	0.19748	CGA	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	104	0.00	0	G	NM_152355		11891610	11891610	+1	no_errors	ENST00000357901	ensembl	human	known	69_37n	missense	103	29.93	44	SNP	0.001	A
ZNF441	126068	genome.wustl.edu	37	19	11891859	11891859	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11891859G>A	ENST00000357901.4	+	4	1322	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	ZNF441_ENST00000454339.2_Missense_Mutation_p.R340Q	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATTACTTTCGAAATCATGAA	0.363																																						dbGAP											0													41.0	42.0	42.0					19																	11891859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1220G>A	19.37:g.11891859G>A	ENSP00000350576:p.Arg407Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R407Q	ENST00000357901.4	37	c.1220	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	10.25	1.299034	0.23650	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.04275	3.66;3.66	1.06	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.02455	0.0075	N	0.25060	0.705	0.09310	N	1	B	0.20368	0.044	B	0.15052	0.012	T	0.47849	-0.9085	9	0.17369	T	0.5	.	0.6914	0.00892	0.4348:0.1759:0.2128:0.1764	.	407	Q8N8Z8	ZN441_HUMAN	Q	363;407;340	ENSP00000350576:R407Q;ENSP00000403738:R340Q	ENSP00000350576:R407Q	R	+	2	0	ZNF441	11752859	0.000000	0.05858	0.000000	0.03702	0.924000	0.55760	-4.262000	0.00264	-1.160000	0.02804	0.298000	0.19748	CGA	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.363	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	88	0.00	0	G	NM_152355		11891859	11891859	+1	no_errors	ENST00000357901	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.000	A
ZNF441	126068	genome.wustl.edu	37	19	11892668	11892668	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11892668G>T	ENST00000357901.4	+	4	2131	c.2029G>T	c.(2029-2031)Ggg>Tgg	p.G677W	ZNF441_ENST00000454339.2_Missense_Mutation_p.G610W	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	677					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAAGAATGTGGGGAAGCATT	0.383																																						dbGAP											0													69.0	75.0	73.0					19																	11892668		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.2029G>T	19.37:g.11892668G>T	ENSP00000350576:p.Gly677Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G677W	ENST00000357901.4	37	c.2029	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	g	12.80	2.047913	0.36085	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.66815	-0.23;-0.23	1.19	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	D	0.85457	0.5701	H	0.95917	3.74	0.26825	N	0.968717	D	0.89917	1.0	D	0.83275	0.996	T	0.74234	-0.3731	9	0.87932	D	0	.	9.9514	0.41640	0.0:0.0:1.0:0.0	.	677	Q8N8Z8	ZN441_HUMAN	W	633;677;610	ENSP00000350576:G677W;ENSP00000403738:G610W	ENSP00000350576:G677W	G	+	1	0	ZNF441	11753668	0.889000	0.30405	0.039000	0.18376	0.297000	0.27493	2.540000	0.45727	0.980000	0.38523	0.305000	0.20034	GGG	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.383	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	129	0.00	0	G	NM_152355		11892668	11892668	+1	no_errors	ENST00000357901	ensembl	human	known	69_37n	missense	161	11.54	21	SNP	0.902	T
ZNF440	126070	genome.wustl.edu	37	19	11942305	11942305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11942305C>A	ENST00000304060.5	+	4	478	c.314C>A	c.(313-315)tCa>tAa	p.S105*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	105					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGTAAAATCATGTGAAAGC	0.393																																						dbGAP											0													160.0	162.0	161.0					19																	11942305		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.314C>A	19.37:g.11942305C>A	ENSP00000305373:p.Ser105*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1R9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S105*	ENST00000304060.5	37	c.314	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	c	16.16	3.043246	0.55003	.	.	ENSG00000171295	ENST00000304060;ENST00000427505;ENST00000414255	.	.	.	0.87	-0.242	0.13039	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	4.7396	0.13007	0.0:0.7577:0.0:0.2423	.	.	.	.	X	105;108;107	.	ENSP00000305373:S105X	S	+	2	0	ZNF440	11803305	0.007000	0.16637	0.004000	0.12327	0.332000	0.28634	0.179000	0.16840	-0.024000	0.13941	0.194000	0.17425	TCA	ZNF440	-	NULL	ENSG00000171295		0.393	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	220	0.00	0	C	NM_152357		11942305	11942305	+1	no_errors	ENST00000304060	ensembl	human	known	69_37n	nonsense	203	13.25	31	SNP	0.001	A
ZNF439	90594	genome.wustl.edu	37	19	11978585	11978585	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11978585G>T	ENST00000304030.2	+	3	901	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF439_ENST00000455282.1_Missense_Mutation_p.R98I|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ATCCATGAAAGAACTCACACT	0.368																																						dbGAP											0													98.0	96.0	97.0					19																	11978585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.701G>T	19.37:g.11978585G>T	ENSP00000305077:p.Arg234Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R234I	ENST00000304030.2	37	c.701	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	g	10.57	1.386579	0.25031	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.24908	1.83;1.83	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30696	0.0773	M	0.83312	2.635	0.37318	D	0.909412	P	0.36465	0.554	B	0.38655	0.278	T	0.34054	-0.9844	9	0.54805	T	0.06	.	6.9918	0.24759	1.0E-4:0.0:0.9999:0.0	.	234	Q8NDP4	ZN439_HUMAN	I	98;234	ENSP00000395632:R98I;ENSP00000305077:R234I	ENSP00000305077:R234I	R	+	2	0	ZNF439	11839585	0.000000	0.05858	0.053000	0.19242	0.504000	0.33889	-0.455000	0.06762	0.577000	0.29470	0.194000	0.17425	AGA	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171291		0.368	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	109	0.00	0	G			11978585	11978585	+1	no_errors	ENST00000304030	ensembl	human	known	69_37n	missense	116	26.11	41	SNP	0.705	T
ZNF433	163059	genome.wustl.edu	37	19	12126777	12126777	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12126777C>A	ENST00000344980.6	-	4	1075	c.905G>T	c.(904-906)aGa>aTa	p.R302I	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.R267I|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CGTGTGAGTTCTTTCATGTAT	0.433																																						dbGAP											0													51.0	54.0	53.0					19																	12126777		2194	4299	6493	-	-	-	SO:0001583	missense	0			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.905G>T	19.37:g.12126777C>A	ENSP00000339767:p.Arg302Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VX3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R302I	ENST00000344980.6	37	c.905	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952126	0.53293	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.24908	1.83;1.83	1.23	-0.518	0.11943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33469	0.0864	M	0.69248	2.105	0.29430	N	0.859911	D	0.63046	0.992	P	0.57324	0.818	T	0.33189	-0.9878	9	0.66056	D	0.02	.	0.3456	0.00341	0.3273:0.2772:0.2092:0.1863	.	302	Q8N7K0	ZN433_HUMAN	I	267;302	ENSP00000393416:R267I;ENSP00000339767:R302I	ENSP00000339767:R302I	R	-	2	0	ZNF433	11987777	0.000000	0.05858	0.010000	0.14722	0.802000	0.45316	-1.975000	0.01498	-0.144000	0.11314	0.313000	0.20887	AGA	ZNF433	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197647		0.433	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	98	0.00	0	C	NM_152602		12126777	12126777	-1	no_errors	ENST00000344980	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	0.654	A
ZNF442	79973	genome.wustl.edu	37	19	12461474	12461474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12461474G>A	ENST00000242804.4	-	6	1507	c.925C>T	c.(925-927)Cga>Tga	p.R309*	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Nonsense_Mutation_p.R240*	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	309					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCATGTATTCGAAGGGAACTG	0.403																																						dbGAP											0													156.0	153.0	154.0					19																	12461474		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.925C>T	19.37:g.12461474G>A	ENSP00000242804:p.Arg309*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ48	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R309*	ENST00000242804.4	37	c.925	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221884	0.58560	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	.	.	.	0.832	0.832	0.18867	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	3.9799	0.09490	0.0:0.0:0.5872:0.4127	.	.	.	.	X	309;240	.	ENSP00000242804:R309X	R	-	1	2	ZNF442	12322474	0.004000	0.15560	0.001000	0.08648	0.484000	0.33280	1.383000	0.34385	0.737000	0.32582	0.313000	0.20887	CGA	ZNF442	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198342		0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	355	0.00	0	G	NM_030824		12461474	12461474	-1	no_errors	ENST00000242804	ensembl	human	known	69_37n	nonsense	184	30.97	83	SNP	0.001	A
ZNF443	10224	genome.wustl.edu	37	19	12541871	12541871	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12541871T>G	ENST00000301547.5	-	4	1312	c.1115A>C	c.(1114-1116)aAa>aCa	p.K372T	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	372					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATCAAAGCCTTTCCCACATAT	0.428																																						dbGAP											0													204.0	190.0	194.0					19																	12541871		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1115A>C	19.37:g.12541871T>G	ENSP00000301547:p.Lys372Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K372T	ENST00000301547.5	37	c.1115	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	T	13.59	2.281355	0.40394	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07908	3.15	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30665	0.0772	M	0.90922	3.16	0.09310	N	0.999994	D	0.67145	0.996	D	0.72982	0.979	T	0.03795	-1.1003	9	0.72032	D	0.01	.	6.5995	0.22693	0.0:0.0:0.0:1.0	.	372	Q9Y2A4	ZN443_HUMAN	T	372	ENSP00000301547:K372T	ENSP00000301547:K372T	K	-	2	0	ZNF443	12402871	0.861000	0.29849	0.336000	0.25522	0.162000	0.22319	1.293000	0.33353	0.893000	0.36288	0.378000	0.23410	AAA	ZNF443	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180855		0.428	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	446	0.00	0	T	NM_005815		12541871	12541871	-1	no_errors	ENST00000301547	ensembl	human	known	69_37n	missense	397	11.38	51	SNP	0.444	G
ZNF431	170959	genome.wustl.edu	37	19	21366281	21366281	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:21366281G>A	ENST00000311048.7	+	5	1319	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	392					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AAACATAAAAGAATTCATACT	0.353																																						dbGAP											0													33.0	36.0	35.0					19																	21366281		2191	4295	6486	-	-	-	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1175G>A	19.37:g.21366281G>A	ENSP00000308578:p.Arg392Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R392K	ENST00000311048.7	37	c.1175	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	8.371	0.835212	0.16820	.	.	ENSG00000196705	ENST00000311048	T	0.18338	2.22	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12305	0.0299	L	0.41236	1.265	0.25642	N	0.9862	B	0.14805	0.011	B	0.16289	0.015	T	0.33727	-0.9857	9	0.22109	T	0.4	.	6.6834	0.23132	0.0:0.2998:0.7002:0.0	.	392	Q8TF32	ZN431_HUMAN	K	392	ENSP00000308578:R392K	ENSP00000308578:R392K	R	+	2	0	ZNF431	21158121	0.000000	0.05858	0.662000	0.29724	0.640000	0.38277	-0.406000	0.07187	0.452000	0.26830	0.455000	0.32223	AGA	ZNF431	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.353	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	45	0.00	0	G	XM_086098		21366281	21366281	+1	no_errors	ENST00000311048	ensembl	human	known	69_37n	missense	44	27.42	17	SNP	1.000	A
ZNF445	353274	genome.wustl.edu	37	3	44491964	44491964	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44491964C>A	ENST00000396077.2	-	6	1142	c.795G>T	c.(793-795)gaG>gaT	p.E265D	ZNF445_ENST00000425708.2_Missense_Mutation_p.E265D	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	265	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCTATAATTCTCCAGCATCA	0.483																																						dbGAP											0													140.0	121.0	128.0					3																	44491964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.795G>T	3.37:g.44491964C>A	ENSP00000379387:p.Glu265Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E265D	ENST00000396077.2	37	c.795	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685132	0.68157	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.03920	3.76;3.76	3.82	3.82	0.43975	Krueppel-associated box (4);	0.000000	0.51477	D	0.000093	T	0.22627	0.0546	M	0.86420	2.815	0.37239	D	0.906059	D;D	0.71674	0.998;0.995	D;D	0.67725	0.953;0.926	T	0.13980	-1.0489	10	0.56958	D	0.05	.	13.9978	0.64414	0.0:1.0:0.0:0.0	.	253;265	B7ZKX2;P59923	.;ZN445_HUMAN	D	265;265;258;263	ENSP00000413073:E265D;ENSP00000379387:E265D	ENSP00000342436:E258D	E	-	3	2	ZNF445	44466968	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.632000	0.24583	2.435000	0.82474	0.491000	0.48974	GAG	ZNF445	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000185219		0.483	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	247	0.00	0	C	NM_181489		44491964	44491964	-1	no_errors	ENST00000396077	ensembl	human	known	69_37n	missense	292	12.84	43	SNP	1.000	A
ZNF462	58499	genome.wustl.edu	37	9	109687237	109687237	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:109687237G>A	ENST00000277225.5	+	3	1333	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P348P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	348					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGATGAAGCCGAAGTCACCTC	0.478																																						dbGAP											0													73.0	68.0	70.0					9																	109687237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1044G>A	9.37:g.109687237G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0T4|Q8N408	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P348	ENST00000277225.5	37	c.1044	CCDS35096.1	9																																																																																			ZNF462	-	NULL	ENSG00000148143		0.478	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	290	0.00	0	G	NM_021224		109687237	109687237	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	silent	199	15.32	36	SNP	0.996	A
ZNF462	58499	genome.wustl.edu	37	9	109689356	109689356	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:109689356G>A	ENST00000277225.5	+	3	3452	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.E1055K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1055					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GAAACACCCCGAAGAAAAGGC	0.448																																						dbGAP											0													190.0	186.0	187.0					9																	109689356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3163G>A	9.37:g.109689356G>A	ENSP00000277225:p.Glu1055Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1055K	ENST00000277225.5	37	c.3163	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123058	0.77436	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08984	3.03;3.45	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.26011	0.0634	L	0.61218	1.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.63488	0.915;0.797	T	0.00164	-1.1968	10	0.33940	T	0.23	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	1055;1055	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	K	1055	ENSP00000277225:E1055K;ENSP00000414570:E1055K	ENSP00000277225:E1055K	E	+	1	0	ZNF462	108729177	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	9.732000	0.98816	2.630000	0.89119	0.655000	0.94253	GAA	ZNF462	-	NULL	ENSG00000148143		0.448	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	345	0.00	0	G	NM_021224		109689356	109689356	+1	no_errors	ENST00000457913	ensembl	human	known	69_37n	missense	229	14.50	39	SNP	1.000	A
ZNF468	90333	genome.wustl.edu	37	19	53344759	53344759	+	Missense_Mutation	SNP	C	C	A	rs185070718		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53344759C>A	ENST00000595646.1	-	4	908	c.788G>T	c.(787-789)aGa>aTa	p.R263I	ZNF468_ENST00000396409.4_Missense_Mutation_p.R210I|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.R210I			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AGTGTGACATCTACGATGGCA	0.393																																						dbGAP											0													129.0	114.0	119.0					19																	53344759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.788G>T	19.37:g.53344759C>A	ENSP00000470381:p.Arg263Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R263I	ENST00000595646.1	37	c.788	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	c	14.44	2.536919	0.45176	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	T;T	0.24908	1.83;1.83	1.76	0.552	0.17230	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24736	0.0600	M	0.78456	2.415	0.09310	N	1	B	0.16802	0.019	B	0.12837	0.008	T	0.41680	-0.9495	9	0.59425	D	0.04	.	0.8192	0.01108	0.2401:0.3606:0.2367:0.1626	.	263	Q5VIY5	ZN468_HUMAN	I	263;210;210;13	ENSP00000379690:R210I;ENSP00000445669:R210I	ENSP00000243639:R263I	R	-	2	0	ZNF468	58036571	0.000000	0.05858	0.001000	0.08648	0.310000	0.27922	-0.660000	0.05317	0.035000	0.15519	0.174000	0.16983	AGA	ZNF468	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204604		0.393	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	HGNC	protein_coding	OTTHUMT00000463098.1	261	0.00	0	C	NM_001008801		53344759	53344759	-1	no_errors	ENST00000243639	ensembl	human	known	69_37n	missense	257	13.18	39	SNP	0.001	A
ZNF479	90827	genome.wustl.edu	37	7	57188127	57188127	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:57188127T>C	ENST00000331162.4	-	5	1265	c.995A>G	c.(994-996)aAa>aGa	p.K332R		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	332					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCTAAAGGCTTTGCCACATTC	0.453																																						dbGAP											0													14.0	14.0	14.0					7																	57188127		1986	4158	6144	-	-	-	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.995A>G	7.37:g.57188127T>C	ENSP00000333776:p.Lys332Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K332R	ENST00000331162.4	37	c.995	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	t	7.593	0.671265	0.14776	.	.	ENSG00000185177	ENST00000331162	T	0.07688	3.17	1.01	-0.996	0.10218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	L	0.33137	0.985	0.19300	N	0.999976	P	0.41546	0.754	B	0.43103	0.408	T	0.26395	-1.0104	9	0.66056	D	0.02	.	4.4132	0.11443	0.0:0.2324:0.0:0.7676	.	332	Q96JC4	ZN479_HUMAN	R	332	ENSP00000333776:K332R	ENSP00000333776:K332R	K	-	2	0	ZNF479	57192069	0.996000	0.38824	0.017000	0.16124	0.017000	0.09413	5.398000	0.66308	-0.614000	0.05687	-0.630000	0.03990	AAA	ZNF479	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185177		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	52	0.00	0	T	XM_291202		57188127	57188127	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	0.568	C
ZNF480	147657	genome.wustl.edu	37	19	52825423	52825423	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52825423G>T	ENST00000595962.1	+	5	986	c.920G>T	c.(919-921)aGa>aTa	p.R307I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.R264I|ZNF480_ENST00000335090.6_Missense_Mutation_p.R230I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CGACATCAAAGAATTCATGCT	0.358																																						dbGAP											0													63.0	69.0	67.0					19																	52825423		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.920G>T	19.37:g.52825423G>T	ENSP00000471754:p.Arg307Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R307I	ENST00000595962.1	37	c.920	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	G	6.727	0.502910	0.12822	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.02446	4.29;4.29;4.29	2.34	-4.69	0.03299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02380	0.0073	L	0.60012	1.86	0.09310	N	1	P;B	0.44816	0.844;0.366	B;B	0.35312	0.2;0.026	T	0.03268	-1.1054	9	0.62326	D	0.03	.	0.65	0.00825	0.3942:0.2031:0.2004:0.2023	.	264;307	F8WEZ9;Q8WV37	.;ZN480_HUMAN	I	307;264;230	ENSP00000417424:R307I;ENSP00000334164:R264I;ENSP00000335670:R230I	ENSP00000334164:R264I	R	+	2	0	ZNF480	57517235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.470000	0.00991	-3.531000	0.00146	-1.536000	0.00914	AGA	ZNF480	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198464		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	130	0.00	0	G	NM_144684		52825423	52825423	+1	no_errors	ENST00000468240	ensembl	human	known	69_37n	missense	98	25.56	34	SNP	0.000	T
ZNF480	147657	genome.wustl.edu	37	19	52825759	52825759	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52825759G>T	ENST00000595962.1	+	5	1322	c.1256G>T	c.(1255-1257)aGa>aTa	p.R419I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.R376I|ZNF480_ENST00000335090.6_Missense_Mutation_p.R342I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CGACATCGAAGAATTCATACT	0.373																																						dbGAP											0													91.0	96.0	94.0					19																	52825759		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1256G>T	19.37:g.52825759G>T	ENSP00000471754:p.Arg419Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R419I	ENST00000595962.1	37	c.1256	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769653	0.31320	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.24908	1.83;1.83;1.83	2.21	-0.429	0.12303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25044	0.0608	L	0.53617	1.68	0.09310	N	1	P;B	0.52692	0.955;0.354	P;B	0.48189	0.57;0.036	T	0.14227	-1.0480	9	0.54805	T	0.06	.	2.1208	0.03725	0.1269:0.1958:0.4776:0.1998	.	376;419	F8WEZ9;Q8WV37	.;ZN480_HUMAN	I	419;376;342	ENSP00000417424:R419I;ENSP00000334164:R376I;ENSP00000335670:R342I	ENSP00000334164:R376I	R	+	2	0	ZNF480	57517571	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.378000	0.07446	-0.156000	0.11079	-0.534000	0.04291	AGA	ZNF480	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198464		0.373	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	151	0.00	0	G	NM_144684		52825759	52825759	+1	no_errors	ENST00000468240	ensembl	human	known	69_37n	missense	197	11.26	25	SNP	0.001	T
ZNF483	158399	genome.wustl.edu	37	9	114289936	114289936	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114289936G>A	ENST00000309235.5	+	2	419	c.261G>A	c.(259-261)acG>acA	p.T87T	ZNF483_ENST00000374374.3_Silent_p.T87T|ZNF483_ENST00000355824.3_Silent_p.T87T|ZNF483_ENST00000358151.4_Silent_p.T87T	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	87	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ACATTCACACGAAAGAACAGA	0.473																																						dbGAP											0													112.0	121.0	118.0					9																	114289936		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.261G>A	9.37:g.114289936G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T87	ENST00000309235.5	37	c.261	CCDS35106.1	9																																																																																			ZNF483	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000173258		0.473	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	135	0.00	0	G	XM_088567		114289936	114289936	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	silent	70	24.73	23	SNP	0.437	A
ZNF483	158399	genome.wustl.edu	37	9	114304385	114304385	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114304385A>C	ENST00000309235.5	+	6	1328	c.1170A>C	c.(1168-1170)caA>caC	p.Q390H	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATAGGTCCCAAAAATGCAGTA	0.403																																						dbGAP											0													84.0	93.0	90.0					9																	114304385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1170A>C	9.37:g.114304385A>C	ENSP00000311679:p.Gln390His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q390H	ENST00000309235.5	37	c.1170	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	A	9.555	1.116989	0.20795	.	.	ENSG00000173258	ENST00000309235	T	0.26810	1.71	4.4	2.54	0.30619	.	0.839242	0.10241	N	0.698411	T	0.06050	0.0157	N	0.00260	-1.75	0.09310	N	0.99999	P	0.41748	0.761	B	0.38500	0.275	T	0.02991	-1.1085	10	0.59425	D	0.04	-2.4756	3.5698	0.07913	0.2114:0.0:0.5912:0.1974	.	390	Q8TF39	ZN483_HUMAN	H	390	ENSP00000311679:Q390H	ENSP00000311679:Q390H	Q	+	3	2	ZNF483	113344206	0.000000	0.05858	0.189000	0.23252	0.030000	0.12068	-1.092000	0.03366	0.776000	0.33473	-0.242000	0.12053	CAA	ZNF483	-	NULL	ENSG00000173258		0.403	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	211	0.00	0	A	XM_088567		114304385	114304385	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	missense	175	13.79	28	SNP	0.024	C
ZNF483	158399	genome.wustl.edu	37	9	114304843	114304843	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:114304843G>A	ENST00000309235.5	+	6	1786	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R543Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CAACATCAGCGAATTCATACT	0.373																																						dbGAP											1	Substitution - Missense(1)	skin(1)											56.0	61.0	59.0					9																	114304843		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1628G>A	9.37:g.114304843G>A	ENSP00000311679:p.Arg543Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R543Q	ENST00000309235.5	37	c.1628	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529027	0.64860	.	.	ENSG00000173258	ENST00000309235	T	0.02369	4.32	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38605	N	0.001621	T	0.09905	0.0243	L	0.59967	1.855	0.41102	D	0.985679	D	0.89917	1.0	D	0.70227	0.968	T	0.00388	-1.1771	10	0.72032	D	0.01	-10.3709	9.2872	0.37764	0.0:0.0:0.7855:0.2145	.	543	Q8TF39	ZN483_HUMAN	Q	543	ENSP00000311679:R543Q	ENSP00000311679:R543Q	R	+	2	0	ZNF483	113344664	0.000000	0.05858	0.997000	0.53966	0.987000	0.75469	0.545000	0.23268	2.524000	0.85096	0.655000	0.94253	CGA	ZNF483	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173258		0.373	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	96	0.00	0	G	XM_088567		114304843	114304843	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	missense	90	20.18	23	SNP	0.663	A
ZNF485	220992	genome.wustl.edu	37	10	44111818	44111818	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:44111818G>A	ENST00000361807.3	+	5	521	c.327G>A	c.(325-327)acG>acA	p.T109T	ZNF485_ENST00000374435.3_Silent_p.T109T|ZNF485_ENST00000374437.2_Silent_p.T18T	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAGAGCGAACGAAAAGTGTCA	0.413																																						dbGAP											0													69.0	70.0	70.0					10																	44111818		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.327G>A	10.37:g.44111818G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSE6|Q96CL0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T109	ENST00000361807.3	37	c.327	CCDS7205.2	10																																																																																			ZNF485	-	NULL	ENSG00000198298		0.413	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	124	0.00	0	G	NM_145312		44111818	44111818	+1	no_errors	ENST00000361807	ensembl	human	known	69_37n	silent	77	11.49	10	SNP	0.000	A
ZNF491	126069	genome.wustl.edu	37	19	11917291	11917291	+	Nonsense_Mutation	SNP	C	C	T	rs201545059		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11917291C>T	ENST00000323169.5	+	3	854	c.523C>T	c.(523-525)Cga>Tga	p.R175*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAGTTCTGTTCGAATCCATGA	0.413																																						dbGAP											0													60.0	60.0	60.0					19																	11917291		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.523C>T	19.37:g.11917291C>T	ENSP00000313443:p.Arg175*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ35|Q8NAT8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R175*	ENST00000323169.5	37	c.523	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	c	16.50	3.141248	0.57044	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	.	.	.	0.892	-0.373	0.12516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	6.4281	0.21780	0.0:0.3866:0.6134:0.0	.	.	.	.	X	175	.	ENSP00000313443:R175X	R	+	1	2	ZNF491	11778291	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.549000	0.06041	-0.078000	0.12730	0.407000	0.27541	CGA	ZNF491	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177599		0.413	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	108	0.00	0	C	NM_152356		11917291	11917291	+1	no_errors	ENST00000323169	ensembl	human	known	69_37n	nonsense	98	23.85	31	SNP	0.001	T
ZNF491	126069	genome.wustl.edu	37	19	11917795	11917795	+	Nonsense_Mutation	SNP	C	C	T	rs377331762		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11917795C>T	ENST00000323169.5	+	3	1358	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R343*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CAAGTACATTCGAATACATGG	0.433																																						dbGAP											1	Substitution - Nonsense(1)	endometrium(1)											63.0	64.0	64.0					19																	11917795		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1027C>T	19.37:g.11917795C>T	ENSP00000313443:p.Arg343*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ35|Q8NAT8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R343*	ENST00000323169.5	37	c.1027	CCDS12267.1	19	.	.	.	.	.	.	.	.	.	.	c	21.6	4.171677	0.78452	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	.	.	.	0.874	0.874	0.19124	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.99999	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	6.2561	0.20874	0.0:0.4442:0.5558:0.0	.	.	.	.	X	343;315	.	ENSP00000313443:R343X	R	+	1	2	ZNF491	11778795	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.753000	0.04792	0.784000	0.33661	0.505000	0.49811	CGA	ZNF491	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177599		0.433	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	95	0.00	0	C	NM_152356		11917795	11917795	+1	no_errors	ENST00000323169	ensembl	human	known	69_37n	nonsense	87	19.44	21	SNP	0.004	T
ZNF492	57615	genome.wustl.edu	37	19	22847363	22847363	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22847363A>G	ENST00000456783.2	+	4	1136	c.892A>G	c.(892-894)Aca>Gca	p.T298A	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AACCCTTACTACACATAAGAT	0.388																																						dbGAP											0													7.0	7.0	7.0					19																	22847363		1482	3422	4904	-	-	-	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.892A>G	19.37:g.22847363A>G	ENSP00000413660:p.Thr298Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T298A	ENST00000456783.2	37	c.892	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	4.421	0.077896	0.08485	.	.	ENSG00000229676	ENST00000456783	T	0.17213	2.29	1.12	-0.367	0.12541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	N	0.20530	0.585	0.09310	N	1	B	0.31077	0.307	B	0.30316	0.114	T	0.34004	-0.9846	9	0.33141	T	0.24	.	5.1787	0.15148	0.7982:0.0:0.2018:0.0	.	298	Q9P255	ZN492_HUMAN	A	298	ENSP00000413660:T298A	ENSP00000413660:T298A	T	+	1	0	ZNF492	22639203	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.292000	0.08332	0.231000	0.21079	0.228000	0.17796	ACA	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	37	0.00	0	A	NM_020855		22847363	22847363	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	0.000	G
ZNF493	284443	genome.wustl.edu	37	19	21587966	21587966	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:21587966C>A	ENST00000355504.4	+	1	135				ZNF493_ENST00000596302.1_Missense_Mutation_p.F22L|ZNF493_ENST00000339914.6_Missense_Mutation_p.F22L|ZNF493_ENST00000392288.2_Missense_Mutation_p.F22L|ZNF493_ENST00000594390.1_Missense_Mutation_p.F22L|CTD-2561J22.3_ENST00000600810.1_Missense_Mutation_p.F2L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCATAGAATTCTCTCTGGAGG	0.443																																						dbGAP											0													90.0	95.0	93.0					19																	21587966		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+7897C>A	19.37:g.21587966C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F22L	ENST00000355504.4	37	c.66	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	12.49	1.953155	0.34471	.	.	ENSG00000196268	ENST00000392288;ENST00000339914	T;T	0.12879	2.64;2.64	1.14	1.14	0.20703	.	.	.	.	.	T	0.37517	0.1006	M	0.88570	2.965	0.22710	N	0.998821	P;D	0.89917	0.877;1.0	P;D	0.91635	0.682;0.999	T	0.06752	-1.0809	9	0.87932	D	0	.	5.6173	0.17438	0.0:1.0:0.0:0.0	.	22;22	Q6ZR52-2;G5E974	.;.	L	22	ENSP00000376110:F22L;ENSP00000340651:F22L	ENSP00000340651:F22L	F	+	3	2	ZNF493	21379806	0.296000	0.24398	0.970000	0.41538	0.323000	0.28346	0.312000	0.19397	0.914000	0.36822	0.411000	0.27672	TTC	ZNF493	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196268		0.443	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	302	0.00	0	C	NM_175910		21587966	21587966	+1	no_errors	ENST00000392288	ensembl	human	novel	69_37n	missense	212	23.19	64	SNP	0.979	A
ZNF492	57615	genome.wustl.edu	37	19	22847410	22847410	+	Silent	SNP	A	A	G	rs555863246		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22847410A>G	ENST00000456783.2	+	4	1183	c.939A>G	c.(937-939)gaA>gaG	p.E313E	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AATGTGAAGAATGTGGTAAGG	0.383																																						dbGAP											0													25.0	29.0	28.0					19																	22847410		2104	4245	6349	-	-	-	SO:0001819	synonymous_variant	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.939A>G	19.37:g.22847410A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08EI7|Q08EI8	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E313	ENST00000456783.2	37	c.939	CCDS46032.1	19																																																																																			ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	69	0.00	0	A	NM_020855		22847410	22847410	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	silent	70	24.73	23	SNP	0.121	G
ZNF502	91392	genome.wustl.edu	37	3	44762762	44762762	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44762762G>T	ENST00000296091.4	+	4	709	c.453G>T	c.(451-453)caG>caT	p.Q151H	ZNF502_ENST00000449836.1_Missense_Mutation_p.Q151H|ZNF502_ENST00000436624.2_Missense_Mutation_p.Q151H	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTGCACACAGAAAAAATCTT	0.393																																						dbGAP											0													83.0	87.0	85.0					3																	44762762		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.453G>T	3.37:g.44762762G>T	ENSP00000296091:p.Gln151His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q151H	ENST00000296091.4	37	c.453	CCDS2719.1	3	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281765	0.40394	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624;ENST00000427783;ENST00000411443	T;T;T;T	0.47177	3.15;3.15;3.15;0.85	4.61	0.637	0.17735	.	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	9	0.87932	D	0	0.0072	5.3718	0.16144	0.262:0.1477:0.5903:0.0	.	151	Q8TBZ5	ZN502_HUMAN	H	151	ENSP00000397390:Q151H;ENSP00000296091:Q151H;ENSP00000406469:Q151H;ENSP00000401717:Q151H	ENSP00000296091:Q151H	Q	+	3	2	ZNF502	44737766	0.000000	0.05858	0.001000	0.08648	0.535000	0.34838	0.408000	0.21065	0.005000	0.14708	0.655000	0.94253	CAG	ZNF502	-	NULL	ENSG00000196653		0.393	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	HGNC	protein_coding	OTTHUMT00000256744.4	128	0.00	0	G	NM_033210		44762762	44762762	+1	no_errors	ENST00000296091	ensembl	human	known	69_37n	missense	104	16.80	21	SNP	0.012	T
ZNF506	440515	genome.wustl.edu	37	19	19906156	19906156	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:19906156T>G	ENST00000540806.2	-	4	628	c.540A>C	c.(538-540)aaA>aaC	p.K180N	ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.K148N|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000443905.2_Missense_Mutation_p.K180N|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						GGTTAAAAGTTTTCCCATATT	0.303																																						dbGAP											0													49.0	49.0	49.0					19																	19906156		1976	4186	6162	-	-	-	SO:0001583	missense	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.540A>C	19.37:g.19906156T>G	ENSP00000440625:p.Lys180Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K180N	ENST00000540806.2	37	c.540	CCDS42531.1	19	.	.	.	.	.	.	.	.	.	.	t	10.10	1.257993	0.22965	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.00882	5.58;5.58;5.58	1.01	-0.169	0.13339	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	M	0.89601	3.045	0.09310	N	1	D;D	0.89917	0.989;1.0	P;D	0.83275	0.864;0.996	T	0.22765	-1.0207	9	0.62326	D	0.03	.	3.9729	0.09462	0.0:0.2814:0.0:0.7186	.	180;148	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	N	180;180;148	ENSP00000393835:K180N;ENSP00000440625:K180N;ENSP00000408892:K148N	ENSP00000393835:K180N	K	-	3	2	ZNF506	19767156	0.008000	0.16893	0.009000	0.14445	0.008000	0.06430	-0.173000	0.09854	0.363000	0.24346	0.352000	0.21897	AAA	ZNF506	-	NULL	ENSG00000081665		0.303	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	199	0.00	0	T	XM_036218		19906156	19906156	-1	no_errors	ENST00000443905	ensembl	human	known	69_37n	missense	140	13.04	21	SNP	0.005	G
ZNF506	440515	genome.wustl.edu	37	19	19917758	19917758	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:19917758G>T	ENST00000540806.2	-	2	211	c.123C>A	c.(121-123)atC>atA	p.I41I	ZNF506_ENST00000587461.1_Silent_p.I41I|ZNF506_ENST00000545006.1_Silent_p.I41I|ZNF506_ENST00000587452.1_Silent_p.I41I|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000450683.2_Silent_p.I41I|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000443905.2_Silent_p.I41I|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CACCAAGGAAGATCAGGTTTC	0.363																																						dbGAP											0													94.0	101.0	98.0					19																	19917758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.123C>A	19.37:g.19917758G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTH6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I41	ENST00000540806.2	37	c.123	CCDS42531.1	19																																																																																			ZNF506	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000081665		0.363	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF506	HGNC	protein_coding	OTTHUMT00000460794.1	387	0.26	1	G	XM_036218		19917758	19917758	-1	no_errors	ENST00000443905	ensembl	human	known	69_37n	silent	232	14.39	39	SNP	0.661	T
ZNF507	22847	genome.wustl.edu	37	19	32845207	32845207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:32845207C>T	ENST00000311921.4	+	2	1663	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491*|ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGAGTCTCTTCGATTACACTC	0.463																																						dbGAP											0													57.0	60.0	59.0					19																	32845207		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1471C>T	19.37:g.32845207C>T	ENSP00000312277:p.Arg491*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R491*	ENST00000311921.4	37	c.1471	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644048	0.87859	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	.	.	.	5.79	1.09	0.20402	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.1701	0.93574	0.2995:0.7005:0.0:0.0	.	.	.	.	X	491	.	ENSP00000312277:R491X	R	+	1	2	ZNF507	37537047	0.002000	0.14202	0.120000	0.21714	0.130000	0.20726	0.063000	0.14410	-0.159000	0.11021	-0.262000	0.10625	CGA	ZNF507	-	NULL	ENSG00000168813		0.463	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	128	0.00	0	C	NM_014910		32845207	32845207	+1	no_errors	ENST00000311921	ensembl	human	known	69_37n	nonsense	99	16.81	20	SNP	0.261	T
ZNF514	84874	genome.wustl.edu	37	2	95815139	95815139	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:95815139C>A	ENST00000295208.2	-	5	1553	c.1091G>T	c.(1090-1092)aGa>aTa	p.R364I	MRPS5_ENST00000475040.1_5'UTR|ZNF514_ENST00000411425.1_Missense_Mutation_p.R364I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						AGTGTGAAATCTGTAATGTTG	0.403																																						dbGAP											0													77.0	72.0	74.0					2																	95815139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.1091G>T	2.37:g.95815139C>A	ENSP00000295208:p.Arg364Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R364I	ENST00000295208.2	37	c.1091	CCDS2011.1	2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562139	0.65538	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.24908	1.83;1.83	2.74	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46308	0.1386	M	0.70842	2.15	0.51767	D	0.999938	D;P	0.89917	1.0;0.624	D;B	0.72625	0.978;0.398	T	0.47586	-0.9106	9	0.52906	T	0.07	.	11.6556	0.51315	0.0:1.0:0.0:0.0	.	364;183	Q96K75;Q658L7	ZN514_HUMAN;.	I	364	ENSP00000295208:R364I;ENSP00000405509:R364I	ENSP00000295208:R364I	R	-	2	0	ZNF514	95178866	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	0.555000	0.23422	1.820000	0.53075	0.655000	0.94253	AGA	ZNF514	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000144026		0.403	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	HGNC	protein_coding	OTTHUMT00000252769.1	131	0.00	0	C	NM_032788		95815139	95815139	-1	no_errors	ENST00000295208	ensembl	human	known	69_37n	missense	96	31.91	45	SNP	0.995	A
ZNF514	84874	genome.wustl.edu	37	2	95815987	95815987	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:95815987C>A	ENST00000295208.2	-	5	705	c.243G>T	c.(241-243)aaG>aaT	p.K81N	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.K81N	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						GCATTGATTCCTTGGATTTAG	0.358																																						dbGAP											0													119.0	123.0	122.0					2																	95815987		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.243G>T	2.37:g.95815987C>A	ENSP00000295208:p.Lys81Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K81N	ENST00000295208.2	37	c.243	CCDS2011.1	2	.	.	.	.	.	.	.	.	.	.	C	7.178	0.589100	0.13812	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.06218	3.33;3.33	3.18	0.321	0.15883	.	.	.	.	.	T	0.06188	0.0160	L	0.49126	1.545	0.09310	N	1	P	0.34522	0.455	B	0.31869	0.137	T	0.31752	-0.9932	9	0.51188	T	0.08	.	5.5127	0.16890	0.0:0.6104:0.0:0.3896	.	81	Q96K75	ZN514_HUMAN	N	81	ENSP00000295208:K81N;ENSP00000405509:K81N	ENSP00000295208:K81N	K	-	3	2	ZNF514	95179714	0.480000	0.25933	0.001000	0.08648	0.056000	0.15407	0.058000	0.14301	0.041000	0.15688	0.655000	0.94253	AAG	ZNF514	-	NULL	ENSG00000144026		0.358	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	HGNC	protein_coding	OTTHUMT00000252769.1	60	0.00	0	C	NM_032788		95815987	95815987	-1	no_errors	ENST00000295208	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.009	A
BLNK	29760	genome.wustl.edu	37	10	97963976	97963976	+	Intron	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:97963976C>A	ENST00000224337.5	-	13	1044				BLNK_ENST00000371176.2_Intron|BLNK_ENST00000413476.2_Intron|BLNK_ENST00000427367.2_Intron	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker						B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TAAAATGTATCTAAAGATAAA	0.308																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.903-132G>T	10.37:g.97963976C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75498|O75499|Q2MD49	RNA	SNP	-	NULL	ENST00000224337.5	37	NULL	CCDS7446.1	10																																																																																			ZNF518A	-	-	ENSG00000177853		0.308	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518A	HGNC	protein_coding	OTTHUMT00000049593.1	84	0.00	0	C	NM_013314		97963976	97963976	+1	no_errors	ENST00000563195	ensembl	human	known	69_37n	rna	54	45.45	45	SNP	0.004	A
ZNF519	162655	genome.wustl.edu	37	18	14105163	14105163	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14105163G>A	ENST00000590202.1	-	3	1528	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	459					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACATTTGAAAGACTTCTCTCC	0.403																																						dbGAP											0													63.0	63.0	63.0					18																	14105163		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1376C>T	18.37:g.14105163G>A	ENSP00000464872:p.Ser459Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S459F	ENST00000590202.1	37	c.1376	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569837	0.28003	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38427	0.1040	L	0.47716	1.5	0.28820	N	0.897746	B	0.22211	0.066	B	0.21917	0.037	T	0.43147	-0.9409	8	0.87932	D	0	.	7.2226	0.25997	1.0E-4:0.0:0.9999:0.0	.	459	Q8TB69	ZN519_HUMAN	F	459	.	ENSP00000307908:S459F	S	-	2	0	ZNF519	14095163	0.965000	0.33210	0.121000	0.21740	0.191000	0.23601	2.347000	0.44036	0.661000	0.30985	0.089000	0.15464	TCT	ZNF519	-	pfscan_Znf_C2H2	ENSG00000175322		0.403	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	146	0.00	0	G	NM_145287		14105163	14105163	-1	no_errors	ENST00000590202	ensembl	human	known	69_37n	missense	118	19.18	28	SNP	0.982	A
ZNF519	162655	genome.wustl.edu	37	18	14105755	14105755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:14105755C>A	ENST00000590202.1	-	3	936	c.784G>T	c.(784-786)Gaa>Taa	p.E262*	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	262					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E262*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACTGATTTTTCTCCAGTGTTA	0.318																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											44.0	49.0	47.0					18																	14105755		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.784G>T	18.37:g.14105755C>A	ENSP00000464872:p.Glu262*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E262*	ENST00000590202.1	37	c.784	CCDS32797.1	18	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983296	0.74474	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	262	.	ENSP00000307908:E262X	E	-	1	0	ZNF519	14095755	0.273000	0.24181	0.005000	0.12908	0.258000	0.26162	2.779000	0.47734	0.661000	0.30985	0.089000	0.15464	GAA	ZNF519	-	NULL	ENSG00000175322		0.318	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF519	HGNC	protein_coding	OTTHUMT00000459037.1	214	0.00	0	C	NM_145287		14105755	14105755	-1	no_errors	ENST00000590202	ensembl	human	known	69_37n	nonsense	120	27.27	45	SNP	1.000	A
ZNF521	25925	genome.wustl.edu	37	18	22805863	22805863	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:22805863G>A	ENST00000361524.3	-	4	2167	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.F453F|ZNF521_ENST00000538137.2_Silent_p.F673F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	673					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTGGTTGGGGAATTCCTTGT	0.428			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													178.0	165.0	170.0					18																	22805863		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2019C>T	18.37:g.22805863G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F673	ENST00000361524.3	37	c.2019	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.428	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	86	0.00	0	G	NM_015461		22805863	22805863	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	silent	58	14.71	10	SNP	0.999	A
ZNF521	25925	genome.wustl.edu	37	18	22805938	22805938	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr18:22805938G>A	ENST00000361524.3	-	4	2092	c.1944C>T	c.(1942-1944)agC>agT	p.S648S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.S428S|ZNF521_ENST00000538137.2_Silent_p.S648S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	648					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTCTGAAAGCTGTCTAGGG	0.463			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													177.0	163.0	168.0					18																	22805938		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1944C>T	18.37:g.22805938G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S648	ENST00000361524.3	37	c.1944	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	96	0.00	0	G	NM_015461		22805938	22805938	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	silent	56	12.50	8	SNP	1.000	A
ZNF527	84503	genome.wustl.edu	37	19	37879832	37879832	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37879832G>T	ENST00000436120.2	+	5	988	c.881G>T	c.(880-882)aGa>aTa	p.R294I	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACCTCAGAGAATTCACAGT	0.403																																						dbGAP											0													111.0	103.0	106.0					19																	37879832		2073	4223	6296	-	-	-	SO:0001583	missense	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.881G>T	19.37:g.37879832G>T	ENSP00000390179:p.Arg294Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R294I	ENST00000436120.2	37	c.881	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353282	0.41700	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	0.443	0.16587	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.665848	0.12435	N	0.469189	T	0.62672	0.2447	M	0.82323	2.585	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.004	T	0.62685	-0.6802	9	0.56958	D	0.05	.	9.8531	0.41068	0.0:0.3974:0.4644:0.1381	.	294;262	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	I	294;262;242	.	ENSP00000325231:R262I	R	+	2	0	ZNF527	42571672	.	.	0.996000	0.52242	0.980000	0.70556	.	.	0.378000	0.24764	0.655000	0.94253	AGA	ZNF527	-	pfscan_Znf_C2H2	ENSG00000189164		0.403	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	74	0.00	0	G	NM_032453		37879832	37879832	+1	no_errors	ENST00000436120	ensembl	human	known	69_37n	missense	71	21.11	19	SNP	0.964	T
ZNF528	84436	genome.wustl.edu	37	19	52918803	52918803	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52918803G>T	ENST00000360465.3	+	7	1124	c.698G>T	c.(697-699)aGa>aTa	p.R233I	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACATCGAAGAATGCATACT	0.393																																						dbGAP											0													94.0	89.0	91.0					19																	52918803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.698G>T	19.37:g.52918803G>T	ENSP00000353652:p.Arg233Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R233I	ENST00000360465.3	37	c.698	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526476	0.27299	.	.	ENSG00000167555	ENST00000360465	T	0.24908	1.83	1.82	-3.64	0.04515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21550	0.0519	L	0.55834	1.745	0.09310	N	1	P	0.47545	0.897	B	0.43103	0.408	T	0.04870	-1.0921	9	0.56958	D	0.05	.	4.842	0.13494	0.4108:0.2853:0.3039:0.0	.	233	Q3MIS6	ZN528_HUMAN	I	233	ENSP00000353652:R233I	ENSP00000353652:R233I	R	+	2	0	ZNF528	57610615	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.918000	0.04021	-1.807000	0.01236	-1.468000	0.01013	AGA	ZNF528	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167555		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	90	0.00	0	G	NM_032423		52918803	52918803	+1	no_errors	ENST00000360465	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	0.000	T
ZNF534	147658	genome.wustl.edu	37	19	52941472	52941472	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52941472G>T	ENST00000332323.6	+	4	859	c.798G>T	c.(796-798)caG>caT	p.Q266H	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.Q253H	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TCTTCAATCAGAATTCACACC	0.383																																						dbGAP											0													53.0	48.0	50.0					19																	52941472		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.798G>T	19.37:g.52941472G>T	ENSP00000327538:p.Gln266His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q266H	ENST00000332323.6	37	c.798	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	9.026	0.985994	0.18889	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.01159	5.25;5.25	1.81	-2.31	0.06765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01592	0.0051	L	0.33189	0.99	0.09310	N	0.999998	B;D	0.63046	0.151;0.992	B;P	0.54965	0.029;0.765	T	0.45279	-0.9272	9	0.27785	T	0.31	.	3.0793	0.06256	0.3446:0.0:0.4516:0.2038	.	253;266	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	266;253;265	ENSP00000327538:Q266H;ENSP00000391358:Q253H	ENSP00000327538:Q266H	Q	+	3	2	ZNF534	57633284	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-1.772000	0.01787	-0.567000	0.06046	0.460000	0.39030	CAG	ZNF534	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198633		0.383	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	74	0.00	0	G	NM_182512		52941472	52941472	+1	no_errors	ENST00000332323	ensembl	human	known	69_37n	missense	71	27.55	27	SNP	0.004	T
ZNF534	147658	genome.wustl.edu	37	19	52942121	52942121	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52942121G>A	ENST00000332323.6	+	4	1508	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.E470K	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CAAATGTAACGAATGTGGCAA	0.403																																						dbGAP											0													43.0	38.0	40.0					19																	52942121		692	1591	2283	-	-	-	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1447G>A	19.37:g.52942121G>A	ENSP00000327538:p.Glu483Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E483K	ENST00000332323.6	37	c.1447	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	5.198	0.222032	0.09863	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.35973	1.28;1.28	1.8	0.687	0.18020	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23289	0.0563	L	0.35487	1.065	0.09310	N	1	P;B	0.50943	0.94;0.427	B;B	0.40741	0.339;0.027	T	0.13202	-1.0518	9	0.59425	D	0.04	.	4.1278	0.10134	0.1596:0.2408:0.5996:0.0	.	470;483	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	K	483;470;482	ENSP00000327538:E483K;ENSP00000391358:E470K	ENSP00000327538:E483K	E	+	1	0	ZNF534	57633933	0.000000	0.05858	0.015000	0.15790	0.029000	0.11900	-0.729000	0.04920	0.084000	0.17077	0.453000	0.30009	GAA	ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198633		0.403	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	121	0.00	0	G	NM_182512		52942121	52942121	+1	no_errors	ENST00000332323	ensembl	human	known	69_37n	missense	145	12.57	21	SNP	0.007	A
ZNF555	148254	genome.wustl.edu	37	19	2852747	2852747	+	Silent	SNP	C	C	T	rs545112288		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:2852747C>T	ENST00000334241.4	+	4	822	c.684C>T	c.(682-684)taC>taT	p.Y228Y	ZNF555_ENST00000591539.1_Silent_p.Y227Y|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAAACCTACGAATGTAAGC	0.428																																						dbGAP											0													98.0	87.0	91.0					19																	2852747		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.684C>T	19.37:g.2852747C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y228	ENST00000334241.4	37	c.684	CCDS12096.1	19																																																																																			ZNF555	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186300		0.428	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	HGNC	protein_coding	OTTHUMT00000451637.3	78	0.00	0	C	NM_152791		2852747	2852747	+1	no_errors	ENST00000334241	ensembl	human	known	69_37n	silent	61	29.89	26	SNP	0.024	T
ZNF57	126295	genome.wustl.edu	37	19	2917350	2917350	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:2917350G>T	ENST00000306908.5	+	4	879	c.731G>T	c.(730-732)aGa>aTa	p.R244I	ZNF57_ENST00000523428.1_Missense_Mutation_p.R212I|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACATGTGAGAACTCACACA	0.463																																					NSCLC(150;910 1964 4303 10464 26498)	dbGAP											0													100.0	99.0	99.0					19																	2917350		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.731G>T	19.37:g.2917350G>T	ENSP00000303696:p.Arg244Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R244I	ENST00000306908.5	37	c.731	CCDS12098.1	19	.	.	.	.	.	.	.	.	.	.	g	11.33	1.608051	0.28623	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.02446	4.29;4.29	2.08	-4.16	0.03869	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	M	0.83692	2.655	0.09310	N	1	D	0.64830	0.994	P	0.51999	0.687	T	0.01648	-1.1304	9	0.40728	T	0.16	.	4.1243	0.10119	0.3815:0.1752:0.4434:0.0	.	244	Q68EA5	ZNF57_HUMAN	I	244;246;212	ENSP00000303696:R244I;ENSP00000430223:R212I	ENSP00000303696:R244I	R	+	2	0	ZNF57	2868350	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-1.367000	0.02583	-1.228000	0.02568	-1.182000	0.01712	AGA	ZNF57	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171970		0.463	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1	147	0.00	0	G	NM_173480		2917350	2917350	+1	no_errors	ENST00000306908	ensembl	human	known	69_37n	missense	100	29.58	42	SNP	0.007	T
ZNF560	147741	genome.wustl.edu	37	19	9577982	9577982	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9577982C>A	ENST00000301480.4	-	10	1854	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TACCACATTTCTTACATTGAT	0.403																																						dbGAP											0													97.0	94.0	95.0					19																	9577982		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1641G>T	19.37:g.9577982C>A	ENSP00000301480:p.Lys547Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S9|Q495T1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K547N	ENST00000301480.4	37	c.1641	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	C	9.871	1.198941	0.22121	.	.	ENSG00000198028	ENST00000301480	T	0.19669	2.13	2.05	0.999	0.19862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	N	0.04275	-0.24	0.09310	N	1	P	0.51791	0.948	P	0.51866	0.682	T	0.08493	-1.0719	9	0.06891	T	0.86	.	4.2336	0.10615	0.0:0.6439:0.0:0.3561	.	547	Q96MR9	ZN560_HUMAN	N	547	ENSP00000301480:K547N	ENSP00000301480:K547N	K	-	3	2	ZNF560	9438982	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-7.267000	0.00040	0.415000	0.25817	0.491000	0.48974	AAG	ZNF560	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198028		0.403	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	108	0.00	0	C	NM_152476		9577982	9577982	-1	no_errors	ENST00000301480	ensembl	human	known	69_37n	missense	86	17.31	18	SNP	0.000	A
ZNF560	147741	genome.wustl.edu	37	19	9579823	9579823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9579823C>T	ENST00000301480.4	-	9	783	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AATTATCTTGCCAAAGGGCTG	0.308																																						dbGAP											0													28.0	29.0	28.0					19																	9579823		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.570G>A	19.37:g.9579823C>T	ENSP00000301480:p.Trp190*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S9|Q495T1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W190*	ENST00000301480.4	37	c.570	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563769	0.45694	.	.	ENSG00000198028	ENST00000301480	.	.	.	1.99	-1.96	0.07525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.7149	0.08434	0.0:0.2944:0.4177:0.2879	.	.	.	.	X	190	.	ENSP00000301480:W190X	W	-	3	0	ZNF560	9440823	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.621000	0.05559	-0.385000	0.07833	-0.315000	0.08773	TGG	ZNF560	-	NULL	ENSG00000198028		0.308	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	86	0.00	0	C	NM_152476		9579823	9579823	-1	no_errors	ENST00000301480	ensembl	human	known	69_37n	nonsense	59	34.44	31	SNP	0.000	T
ZNF561	93134	genome.wustl.edu	37	19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9721015C>T	ENST00000302851.3	-	6	1685	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'Flank	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418																																						dbGAP											0													152.0	146.0	148.0					19																	9721015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1322G>A	19.37:g.9721015C>T	ENSP00000303915:p.Arg441Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R441Q	ENST00000302851.3	37	c.1322	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592903	0.28357	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.02369	4.32;4.32;4.32	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.11665	-1.0578	9	0.66056	D	0.02	.	8.1044	0.30877	0.0:1.0:0.0:0.0	.	441	Q8N587	ZN561_HUMAN	Q	372;441;305	ENSP00000393074:R372Q;ENSP00000303915:R441Q;ENSP00000346687:R305Q	ENSP00000303915:R441Q	R	-	2	0	ZNF561	9582015	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.801000	0.04550	0.905000	0.36596	0.298000	0.19748	CGA	ZNF561	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171469		0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	450	0.00	0	C	NM_152289		9721015	9721015	-1	no_errors	ENST00000302851	ensembl	human	known	69_37n	missense	361	23.69	113	SNP	0.012	T
ZNF562	54811	genome.wustl.edu	37	19	9764425	9764425	+	Missense_Mutation	SNP	C	C	A	rs201987717	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9764425C>A	ENST00000448622.1	-	6	643	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	ZNF562_ENST00000587392.1_3'UTR|ZNF562_ENST00000537617.1_Missense_Mutation_p.D45Y|ZNF562_ENST00000541032.1_Missense_Mutation_p.D124Y|ZNF562_ENST00000453372.2_Missense_Mutation_p.D161Y|ZNF562_ENST00000590155.1_Missense_Mutation_p.D160Y|ZNF562_ENST00000453792.2_Missense_Mutation_p.D92Y|ZNF562_ENST00000293648.4_Missense_Mutation_p.D89Y	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGATGCTGTCTTTTCCATAA	0.428																																						dbGAP											0													103.0	95.0	98.0					19																	9764425		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.481G>T	19.37:g.9764425C>A	ENSP00000411784:p.Asp161Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MN2|Q9NXS5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D161Y	ENST00000448622.1	37	c.481	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	C	9.990	1.230580	0.22542	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	1.42	-0.879	0.10613	.	.	.	.	.	T	0.55321	0.1913	L	0.39147	1.195	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.997	D;D;P;D;D	0.83275	0.996;0.99;0.907;0.993;0.937	T	0.44544	-0.9321	9	0.87932	D	0	.	1.9573	0.03378	0.2631:0.356:0.0:0.3808	.	45;160;124;161;89	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	Y	161;161;89;124;92;45	ENSP00000410734:D161Y;ENSP00000411784:D161Y;ENSP00000293648:D89Y;ENSP00000442614:D124Y;ENSP00000440451:D92Y;ENSP00000445816:D45Y	ENSP00000293648:D89Y	D	-	1	0	ZNF562	9625425	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.080000	0.14802	-0.203000	0.10251	0.313000	0.20887	GAC	ZNF562	-	NULL	ENSG00000171466		0.428	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	423	0.00	0	C	NM_017656		9764425	9764425	-1	no_errors	ENST00000448622	ensembl	human	known	69_37n	missense	305	25.73	106	SNP	0.008	A
ZNF563	147837	genome.wustl.edu	37	19	12433451	12433451	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12433451C>A	ENST00000293725.5	-	2	283	c.78G>T	c.(76-78)aaG>aaT	p.K26N	ZNF563_ENST00000595977.1_Missense_Mutation_p.K26N	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K26N(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTATAAATTCTTCTGTGATG	0.428																																					GBM(39;623 795 5132 29510 31476)	dbGAP											2	Substitution - Missense(2)	large_intestine(2)											135.0	122.0	126.0					19																	12433451		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.78G>T	19.37:g.12433451C>A	ENSP00000293725:p.Lys26Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E7|Q8NAT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K26N	ENST00000293725.5	37	c.78	CCDS12270.1	19	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972745	0.34848	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.02944	4.1	1.27	0.0423	0.14217	Krueppel-associated box (4);	.	.	.	.	T	0.16300	0.0392	M	0.92219	3.285	0.22796	N	0.998726	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03121	-1.1070	9	0.72032	D	0.01	.	6.2568	0.20877	0.2977:0.7023:0.0:0.0	.	26;26	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	N	26	ENSP00000293725:K26N	ENSP00000293725:K26N	K	-	3	2	ZNF563	12294451	0.016000	0.18221	0.665000	0.29768	0.054000	0.15201	-0.040000	0.12104	-0.124000	0.11724	-0.692000	0.03713	AAG	ZNF563	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188868		0.428	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	128	0.00	0	C	NM_145276		12433451	12433451	-1	no_errors	ENST00000293725	ensembl	human	known	69_37n	missense	116	15.94	22	SNP	0.494	A
ZNF564	163050	genome.wustl.edu	37	19	12638256	12638256	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12638256C>A	ENST00000339282.7	-	4	862	c.666G>T	c.(664-666)gaG>gaT	p.E222D	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CATAGGGTTTCTCTCCAGTGT	0.398																																						dbGAP											0													80.0	88.0	86.0					19																	12638256		2196	4298	6494	-	-	-	SO:0001583	missense	0			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.666G>T	19.37:g.12638256C>A	ENSP00000340004:p.Glu222Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT4|Q6P1K6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E222D	ENST00000339282.7	37	c.666	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144284	0.77888	.	.	ENSG00000249709	ENST00000339282	T	0.26810	1.71	1.57	1.57	0.23409	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45518	0.1346	M	0.73372	2.23	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.49133	-0.8971	9	0.62326	D	0.03	.	10.8088	0.46533	0.0:1.0:0.0:0.0	.	222	Q8TBZ8	ZN564_HUMAN	D	222	ENSP00000340004:E222D	ENSP00000340004:E222D	E	-	3	2	ZNF564	12499256	0.323000	0.24643	0.103000	0.21229	0.878000	0.50629	-0.277000	0.08502	1.211000	0.43351	0.549000	0.68633	GAG	ZNF564	-	pfscan_Znf_C2H2	ENSG00000249709		0.398	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	175	0.00	0	C	NM_144976		12638256	12638256	-1	no_errors	ENST00000339282	ensembl	human	known	69_37n	missense	115	31.55	53	SNP	1.000	A
ZNF536	9745	genome.wustl.edu	37	19	30936155	30936155	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:30936155G>T	ENST00000355537.3	+	2	1833	c.1686G>T	c.(1684-1686)gaG>gaT	p.E562D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	562					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTGATAAGGAGAAGCGGGAGT	0.537																																						dbGAP											0													83.0	89.0	87.0					19																	30936155		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1686G>T	19.37:g.30936155G>T	ENSP00000347730:p.Glu562Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E562D	ENST00000355537.3	37	c.1686	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	4.344	0.063377	0.08388	.	.	ENSG00000198597	ENST00000355537	T	0.42513	0.97	5.53	5.53	0.82687	.	0.048685	0.85682	D	0.000000	T	0.22044	0.0531	N	0.04132	-0.27	0.36060	D	0.841364	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.21484	-1.0244	10	0.18710	T	0.47	-42.1499	14.3162	0.66452	0.0:0.0:0.8516:0.1484	.	562;562	A7E228;O15090	.;ZN536_HUMAN	D	562	ENSP00000347730:E562D	ENSP00000347730:E562D	E	+	3	2	ZNF536	35627995	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.091000	0.41691	2.582000	0.87167	0.655000	0.94253	GAG	ZNF536	-	NULL	ENSG00000198597		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	112	0.00	0	G	NM_014717		30936155	30936155	+1	no_errors	ENST00000355537	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	T
ZNF569	148266	genome.wustl.edu	37	19	37904688	37904688	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37904688A>T	ENST00000316950.6	-	6	1429	c.872T>A	c.(871-873)aTt>aAt	p.I291N	ZNF569_ENST00000392150.2_Missense_Mutation_p.I132N|ZNF569_ENST00000392149.2_Missense_Mutation_p.I291N	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	291					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAGTATGAATTTTTTCATG	0.378																																						dbGAP											0													78.0	81.0	80.0					19																	37904688		2202	4298	6500	-	-	-	SO:0001583	missense	0			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.872T>A	19.37:g.37904688A>T	ENSP00000325018:p.Ile291Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I291N	ENST00000316950.6	37	c.872	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	A	14.65	2.600138	0.46423	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.07567	3.18;3.18	3.97	2.95	0.34219	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38272	N	0.001753	T	0.14830	0.0358	L	0.42632	1.34	0.32339	N	0.559996	P;P	0.49307	0.922;0.922	P;P	0.57101	0.813;0.813	T	0.05241	-1.0897	10	0.87932	D	0	.	8.5813	0.33630	0.9032:0.0:0.0968:0.0	.	132;291	Q17RR6;Q5MCW4	.;ZN569_HUMAN	N	291;132	ENSP00000325018:I291N;ENSP00000375993:I132N	ENSP00000325018:I291N	I	-	2	0	ZNF569	42596528	0.000000	0.05858	0.999000	0.59377	0.988000	0.76386	0.627000	0.24506	0.683000	0.31428	0.533000	0.62120	ATT	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196437		0.378	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	95	0.00	0	A	NM_152484		37904688	37904688	-1	no_errors	ENST00000316950	ensembl	human	known	69_37n	missense	74	34.21	39	SNP	0.998	T
ZNF540	163255	genome.wustl.edu	37	19	38104061	38104061	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38104061G>T	ENST00000592533.1	+	5	2212	c.1880G>T	c.(1879-1881)aGa>aTa	p.R627I	ZNF540_ENST00000316433.4_Missense_Mutation_p.R627I|ZNF540_ENST00000589117.1_Missense_Mutation_p.R595I|ZNF540_ENST00000343599.5_Missense_Mutation_p.R627I	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	627					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACATCAGAGAATTCACACT	0.353																																						dbGAP											0													41.0	43.0	42.0					19																	38104061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1880G>T	19.37:g.38104061G>T	ENSP00000466274:p.Arg627Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R627I	ENST00000592533.1	37	c.1880	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975544	0.74360	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.24908	1.83;3.18	2.8	-0.128	0.13506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26774	0.0655	M	0.79805	2.47	0.33802	D	0.626767	B;B	0.25105	0.097;0.118	B;B	0.23574	0.028;0.047	T	0.16867	-1.0388	9	0.51188	T	0.08	.	4.9011	0.13775	0.1415:0.0:0.6603:0.1982	.	595;627	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	I	627;595	ENSP00000324598:R627I;ENSP00000343768:R595I	ENSP00000324598:R627I	R	+	2	0	ZNF540	42795901	0.000000	0.05858	0.000000	0.03702	0.859000	0.49053	-0.292000	0.08332	-0.227000	0.09884	0.305000	0.20034	AGA	ZNF540	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	90	0.00	0	G	NM_152606		38104061	38104061	+1	no_errors	ENST00000316433	ensembl	human	known	69_37n	missense	97	14.16	16	SNP	0.970	T
ZNF546	339327	genome.wustl.edu	37	19	40521228	40521228	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40521228A>G	ENST00000347077.4	+	7	2267	c.2051A>G	c.(2050-2052)cAc>cGc	p.H684R	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H658R	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCAACATCACAGAGGCCAT	0.413																																						dbGAP											0													101.0	83.0	89.0					19																	40521228		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2051A>G	19.37:g.40521228A>G	ENSP00000339823:p.His684Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H684R	ENST00000347077.4	37	c.2051	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	a	11.35	1.613939	0.28712	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.33865	1.39	2.68	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12944	0.0314	N	0.01219	-0.95	0.23346	N	0.997864	B	0.31174	0.311	B	0.24155	0.051	T	0.10776	-1.0615	9	0.59425	D	0.04	.	9.1616	0.37025	1.0:0.0:0.0:0.0	.	684	Q86UE3	ZN546_HUMAN	R	684;293	ENSP00000339823:H684R	ENSP00000339823:H684R	H	+	2	0	ZNF546	45213068	0.000000	0.05858	0.994000	0.49952	0.988000	0.76386	0.641000	0.24720	1.472000	0.48140	0.482000	0.46254	CAC	ZNF546	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187187		0.413	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	154	0.00	0	A	NM_178544		40521228	40521228	+1	no_errors	ENST00000347077	ensembl	human	known	69_37n	missense	116	31.98	55	SNP	0.999	G
ZNF577	84765	genome.wustl.edu	37	19	52376754	52376754	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52376754G>A	ENST00000301399.5	-	7	854	c.489C>T	c.(487-489)tgC>tgT	p.C163C	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.C104C|ZNF577_ENST00000451628.2_Silent_p.C104C|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGGCTCTCCCGCACACACTGC	0.438																																						dbGAP											0													135.0	130.0	132.0					19																	52376754		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.489C>T	19.37:g.52376754G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C163	ENST00000301399.5	37	c.489	CCDS12842.2	19																																																																																			ZNF577	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000161551		0.438	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1	261	0.38	1	G	NM_032679		52376754	52376754	-1	no_errors	ENST00000301399	ensembl	human	known	69_37n	silent	243	10.00	27	SNP	0.996	A
ZNF534	147658	genome.wustl.edu	37	19	52942161	52942161	+	Missense_Mutation	SNP	G	G	A	rs555071817		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52942161G>A	ENST00000332323.6	+	4	1548	c.1487G>A	c.(1486-1488)cGa>cAa	p.R496Q	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R483Q	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AACCTTCAACGACATAGGAAA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		23481	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													36.0	33.0	34.0					19																	52942161		692	1591	2283	-	-	-	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1487G>A	19.37:g.52942161G>A	ENSP00000327538:p.Arg496Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R496Q	ENST00000332323.6	37	c.1487	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	3.318	-0.139392	0.06669	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.36157	1.27;1.27	1.8	-3.32	0.04973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13543	0.0328	L	0.43923	1.385	0.09310	N	1	P;B	0.45212	0.853;0.342	B;B	0.24541	0.054;0.023	T	0.35126	-0.9801	9	0.09843	T	0.71	.	0.0818	0.00032	0.2914:0.1702:0.1959:0.3426	.	483;496	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	Q	496;483;495	ENSP00000327538:R496Q;ENSP00000391358:R483Q	ENSP00000327538:R496Q	R	+	2	0	ZNF534	57633973	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.801000	0.00029	-0.367000	0.08052	0.453000	0.30009	CGA	ZNF534	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198633		0.393	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	122	0.00	0	G	NM_182512		52942161	52942161	+1	no_errors	ENST00000332323	ensembl	human	known	69_37n	missense	146	18.33	33	SNP	0.000	A
ZNF578	147660	genome.wustl.edu	37	19	53014224	53014224	+	Missense_Mutation	SNP	C	C	A	rs201156585		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53014224C>A	ENST00000421239.2	+	6	834	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAAAGAATTTCTTGTAGGCCT	0.368																																						dbGAP											0													72.0	77.0	75.0					19																	53014224		2189	4292	6481	-	-	-	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.590C>A	19.37:g.53014224C>A	ENSP00000459216:p.Ser197Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S197Y	ENST00000421239.2	37	c.590	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	0.014	-1.603271	0.00849	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-1.99	0.07457	.	.	.	.	.	T	0.32585	0.0834	L	0.37850	1.14	0.09310	N	1	D	0.60160	0.987	P	0.55391	0.775	T	0.18681	-1.0329	7	.	.	.	.	1.7601	0.02990	0.3245:0.4295:0.0:0.246	.	197	G3V4F6	.	Y	197	.	.	S	+	2	0	ZNF578	57706036	0.000000	0.05858	0.001000	0.08648	0.488000	0.33401	-1.967000	0.01508	-0.031000	0.13781	0.134000	0.15878	TCT	ZNF578	-	NULL	ENSG00000258405		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	122	0.00	0	C	NM_152472		53014224	53014224	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	missense	140	10.83	17	SNP	0.017	A
ZNF578	147660	genome.wustl.edu	37	19	53014316	53014316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53014316G>T	ENST00000421239.2	+	6	926	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACACATGAGAGAAAAATCTTT	0.318																																						dbGAP											0													67.0	69.0	68.0					19																	53014316		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.682G>T	19.37:g.53014316G>T	ENSP00000459216:p.Glu228*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR51|I3L1Y6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E228*	ENST00000421239.2	37	c.682	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	21.6	4.170428	0.78452	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	-2.97	0.05530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7493	0.13052	0.2133:0.1821:0.6046:0.0	.	.	.	.	X	228	.	.	E	+	1	0	ZNF578	57706128	0.000000	0.05858	0.000000	0.03702	0.571000	0.35966	0.006000	0.13152	-1.188000	0.02705	-0.750000	0.03501	GAA	ZNF578	-	NULL	ENSG00000258405		0.318	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	112	0.00	0	G	NM_152472		53014316	53014316	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	nonsense	133	13.07	20	SNP	0.066	T
ZNF578	147660	genome.wustl.edu	37	19	53014744	53014744	+	Silent	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53014744T>G	ENST00000421239.2	+	6	1354	c.1110T>G	c.(1108-1110)ccT>ccG	p.P370P	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GAATAAAACCTTACAAGTGTA	0.373																																						dbGAP											0													100.0	107.0	105.0					19																	53014744		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1110T>G	19.37:g.53014744T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR51|I3L1Y6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P370	ENST00000421239.2	37	c.1110	CCDS54310.1	19																																																																																			ZNF578	-	pfscan_Znf_C2H2	ENSG00000258405		0.373	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	276	0.00	0	T	NM_152472		53014744	53014744	+1	no_errors	ENST00000421239	ensembl	human	known	69_37n	silent	189	23.48	58	SNP	0.378	G
ZNF579	163033	genome.wustl.edu	37	19	56089407	56089407	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56089407G>A	ENST00000325421.4	-	2	1627	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTTGGCTGTCGAAACAGGAGG	0.672																																						dbGAP											0													24.0	23.0	23.0					19																	56089407		2191	4289	6480	-	-	-	SO:0001819	synonymous_variant	0			AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1599C>T	19.37:g.56089407G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F533	ENST00000325421.4	37	c.1599	CCDS12927.1	19																																																																																			ZNF579	-	NULL	ENSG00000218891		0.672	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF579	HGNC	protein_coding	OTTHUMT00000453348.1	59	0.00	0	G	NM_152600		56089407	56089407	-1	no_errors	ENST00000325421	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.998	A
ZNF582	147948	genome.wustl.edu	37	19	56896271	56896271	+	Missense_Mutation	SNP	C	C	T	rs201702956		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56896271C>T	ENST00000301310.4	-	5	673	c.515G>A	c.(514-516)gGg>gAg	p.G172E	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.G172E	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTTATTATACCCAAAAGGTTT	0.338																																					Ovarian(183;1887 2032 4349 30507 51343)	dbGAP											0													67.0	70.0	69.0					19																	56896271		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.515G>A	19.37:g.56896271C>T	ENSP00000301310:p.Gly172Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G172E	ENST00000301310.4	37	c.515	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.287302	0.01387	.	.	ENSG00000018869	ENST00000301310	T	0.13538	2.58	4.63	-9.27	0.00659	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.499001	0.15021	N	0.284978	T	0.02119	0.0066	N	0.01003	-1.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27905	-1.0060	10	0.07030	T	0.85	.	5.1634	0.15073	0.1874:0.1166:0.0928:0.6032	.	172;203	Q96NG8;B4DQZ9	ZN582_HUMAN;.	E	172	ENSP00000301310:G172E	ENSP00000301310:G172E	G	-	2	0	ZNF582	61588083	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.226000	0.00075	-1.800000	0.01247	-0.282000	0.10007	GGG	ZNF582	-	pfscan_Znf_C2H2	ENSG00000018869		0.338	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	133	0.00	0	C	NM_144690		56896271	56896271	-1	no_errors	ENST00000301310	ensembl	human	known	69_37n	missense	105	18.60	24	SNP	0.000	T
ZNF583	147949	genome.wustl.edu	37	19	56934722	56934722	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56934722G>T	ENST00000333201.9	+	5	905	c.695G>T	c.(694-696)aGa>aTa	p.R232I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R232I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R232I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTCATCAGAGAATTCATACT	0.388																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											45.0	50.0	48.0					19																	56934722		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.695G>T	19.37:g.56934722G>T	ENSP00000388502:p.Arg232Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R232I	ENST00000333201.9	37	c.695	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692434	0.68271	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.02446	4.29;4.29	4.43	-1.39	0.08997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000272	T	0.05914	0.0154	L	0.45422	1.42	0.45704	D	0.998612	D	0.76494	0.999	D	0.67548	0.952	T	0.42258	-0.9462	9	.	.	.	.	5.611	0.17406	0.3784:0.1299:0.4917:0.0	.	232	Q96ND8	ZN583_HUMAN	I	232	ENSP00000291598:R232I;ENSP00000388502:R232I	.	R	+	2	0	ZNF583	61626534	0.000000	0.05858	0.052000	0.19188	0.995000	0.86356	-2.160000	0.01279	-0.175000	0.10725	0.462000	0.41574	AGA	ZNF583	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198440		0.388	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	85	0.00	0	G	NM_152478		56934722	56934722	+1	no_errors	ENST00000291598	ensembl	human	known	69_37n	missense	73	13.10	11	SNP	0.936	T
ZNF585A	199704	genome.wustl.edu	37	19	37643141	37643141	+	Missense_Mutation	SNP	C	C	T	rs572122130		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37643141C>T	ENST00000356958.4	-	5	1918	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E499K|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E499K|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E499K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCACATTCGTGGCATTCA	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											60.0	61.0	61.0					19																	37643141		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1660G>A	19.37:g.37643141C>T	ENSP00000349440:p.Glu554Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TE95|Q96MV3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E554K	ENST00000356958.4	37	c.1660		19	.	.	.	.	.	.	.	.	.	.	C	14.73	2.624049	0.46840	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.07327	3.2;3.2;3.2	2.87	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198022	0.24828	N	0.035278	T	0.19886	0.0478	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.58130	0.833	T	0.01729	-1.1286	9	0.62326	D	0.03	.	12.9943	0.58638	0.0:1.0:0.0:0.0	.	554	Q6P3V2	Z585A_HUMAN	K	554;499;499	ENSP00000349440:E554K;ENSP00000292841:E499K;ENSP00000375998:E499K	ENSP00000292841:E499K	E	-	1	0	ZNF585A	42334981	0.000000	0.05858	0.499000	0.27577	0.833000	0.47200	0.153000	0.16323	1.621000	0.50320	0.650000	0.86243	GAA	ZNF585A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196967		0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	315	0.00	0	C	NM_152655		37643141	37643141	-1	no_errors	ENST00000356958	ensembl	human	known	69_37n	missense	233	24.35	75	SNP	0.001	T
ZNF585B	92285	genome.wustl.edu	37	19	37677234	37677234	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37677234C>A	ENST00000532828.2	-	5	1456	c.1205G>T	c.(1204-1206)aGa>aTa	p.R402I	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R347I|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTATGAATTCTCTGATGCAC	0.413																																					Melanoma(93;882 1454 18863 28917 48427)	dbGAP											0													93.0	90.0	91.0					19																	37677234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1205G>T	19.37:g.37677234C>A	ENSP00000433773:p.Arg402Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R402I	ENST00000532828.2	37	c.1205	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272602	0.59649	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.24908	1.83;1.83	2.74	2.74	0.32292	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40064	N	0.001195	T	0.24005	0.0581	L	0.59967	1.855	0.80722	D	1	D;D	0.59767	0.977;0.986	B;B	0.43251	0.413;0.357	T	0.04333	-1.0959	10	0.56958	D	0.05	.	7.6429	0.28305	0.0:0.8636:0.0:0.1364	.	347;402	E9PQH3;Q52M93	.;Z585B_HUMAN	I	347;402	ENSP00000436774:R347I;ENSP00000433773:R402I	ENSP00000436774:R347I	R	-	2	0	ZNF585B	42369074	0.000000	0.05858	0.999000	0.59377	0.985000	0.73830	-0.220000	0.09215	1.523000	0.49018	0.455000	0.32223	AGA	ZNF585B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000245680		0.413	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	319	0.00	0	C	NM_152279		37677234	37677234	-1	no_errors	ENST00000532828	ensembl	human	known	69_37n	missense	234	15.52	43	SNP	0.999	A
ZNF583	147949	genome.wustl.edu	37	19	56935058	56935058	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56935058G>T	ENST00000333201.9	+	5	1241	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R344I|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R344I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGCATCAGAGAATTCATACA	0.413																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											116.0	123.0	121.0					19																	56935058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1031G>T	19.37:g.56935058G>T	ENSP00000388502:p.Arg344Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R344I	ENST00000333201.9	37	c.1031	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527511	0.64860	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.33	0.753	0.18404	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000196	T	0.50309	0.1608	M	0.81179	2.53	0.50813	D	0.999898	D	0.89917	1.0	D	0.80764	0.994	T	0.56080	-0.8038	9	.	.	.	.	15.2331	0.73407	0.0:0.5566:0.4434:0.0	.	344	Q96ND8	ZN583_HUMAN	I	344	ENSP00000291598:R344I;ENSP00000388502:R344I	.	R	+	2	0	ZNF583	61626870	0.000000	0.05858	0.640000	0.29408	0.996000	0.88848	-0.098000	0.11024	0.166000	0.19597	0.462000	0.41574	AGA	ZNF583	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198440		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	735	0.00	0	G	NM_152478		56935058	56935058	+1	no_errors	ENST00000291598	ensembl	human	known	69_37n	missense	442	16.60	88	SNP	0.968	T
ZNF587B	100293516	genome.wustl.edu	37	19	58352477	58352477	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58352477G>T	ENST00000442832.4	+	3	669	c.435G>T	c.(433-435)gaG>gaT	p.E145D	ZNF587B_ENST00000594901.1_Missense_Mutation_p.E145D|ZNF587B_ENST00000316462.4_Missense_Mutation_p.E144D|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	145					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ACATTGGAGAGAAACCCTACA	0.483																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.435G>T	19.37:g.58352477G>T	ENSP00000392410:p.Glu145Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DR41	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E145D	ENST00000442832.4	37	c.435	CCDS56109.1	19	.	.	.	.	.	.	.	.	.	.	.	13.49	2.252650	0.39797	.	.	ENSG00000198466	ENST00000316462;ENST00000442832	T;T	0.02032	4.49;4.49	1.58	-0.921	0.10472	.	.	.	.	.	T	0.03390	0.0098	M	0.76328	2.33	.	.	.	P;B	0.36647	0.563;0.35	B;B	0.37346	0.247;0.205	T	0.24083	-1.0170	8	0.54805	T	0.06	.	3.1795	0.06579	0.1733:0.0:0.5699:0.2569	.	145;95	E7ETH6;Q92967	.;.	D	144;145	ENSP00000350696:E144D;ENSP00000392410:E145D	ENSP00000350696:E144D	E	+	3	2	ZNF587	63044289	0.030000	0.19436	0.010000	0.14722	0.112000	0.19704	-0.081000	0.11321	-0.163000	0.10946	0.306000	0.20318	GAG	ZNF587	-	pfscan_Znf_C2H2	ENSG00000198466		0.483	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	ZNF587	HGNC	protein_coding	OTTHUMT00000466834.2	202	0.00	0	G	NM_001204818		58352477	58352477	+1	no_errors	ENST00000442832	ensembl	human	known	69_37n	missense	142	30.73	63	SNP	1.000	T
ZNF592	9640	genome.wustl.edu	37	15	85327166	85327166	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr15:85327166G>T	ENST00000560079.2	+	4	1548	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	ZNF592_ENST00000299927.3_Missense_Mutation_p.E420D	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	420					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCCCAGCGAGATGCCAGGGG	0.587																																						dbGAP											0													50.0	56.0	54.0					15																	85327166		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1260G>T	15.37:g.85327166G>T	ENSP00000452877:p.Glu420Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E420D	ENST00000560079.2	37	c.1260	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	G	3.049	-0.195828	0.06259	.	.	ENSG00000166716	ENST00000299927	T	0.00617	6.19	5.65	3.69	0.42338	.	0.563354	0.20243	N	0.096257	T	0.00468	0.0015	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.52866	-0.8518	10	0.30854	T	0.27	-16.3265	9.8255	0.40910	0.0:0.1492:0.6973:0.1534	.	420	Q92610	ZN592_HUMAN	D	420	ENSP00000299927:E420D	ENSP00000299927:E420D	E	+	3	2	ZNF592	83128170	0.531000	0.26338	0.987000	0.45799	0.026000	0.11368	0.444000	0.21661	2.663000	0.90544	0.655000	0.94253	GAG	ZNF592	-	NULL	ENSG00000166716		0.587	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	125	0.79	1	G	NM_014630		85327166	85327166	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	missense	100	15.97	19	SNP	0.120	T
ZNF594	84622	genome.wustl.edu	37	17	5086860	5086860	+	Missense_Mutation	SNP	C	C	A	rs563203356		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:5086860C>A	ENST00000399604.4	-	1	832	c.692G>T	c.(691-693)aGa>aTa	p.R231I	ZNF594_ENST00000575779.1_Missense_Mutation_p.R231I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACTGTGGATTCTCTGGTGCAG	0.443																																						dbGAP											0													103.0	107.0	106.0					17																	5086860		2054	4226	6280	-	-	-	SO:0001583	missense	0			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.692G>T	17.37:g.5086860C>A	ENSP00000382513:p.Arg231Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6RFS0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R231I	ENST00000399604.4	37	c.692	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174715	0.38413	.	.	ENSG00000180626	ENST00000399604	T	0.24908	1.83	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44973	0.1319	M	0.65975	2.015	0.34962	D	0.752321	D	0.89917	1.0	D	0.77557	0.99	T	0.57418	-0.7815	9	0.51188	T	0.08	.	10.38	0.44106	0.0:1.0:0.0:0.0	.	231	Q96JF6	ZN594_HUMAN	I	231	ENSP00000382513:R231I	ENSP00000382513:R231I	R	-	2	0	ZNF594	5027584	0.000000	0.05858	0.631000	0.29282	0.253000	0.25986	0.710000	0.25748	1.314000	0.45095	0.462000	0.41574	AGA	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180626		0.443	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	53	0.00	0	C	XM_290737		5086860	5086860	-1	no_errors	ENST00000399604	ensembl	human	known	69_37n	missense	26	51.85	28	SNP	1.000	A
ZNF596	169270	genome.wustl.edu	37	8	193775	193775	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:193775C>A	ENST00000398612.1	+	4	576	c.193C>A	c.(193-195)Ctt>Att	p.L65I	ZNF596_ENST00000320552.2_Intron|ZNF596_ENST00000308811.4_Missense_Mutation_p.L65I	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AGTAGAGAAACTTTCAACACA	0.433																																						dbGAP											0													115.0	109.0	111.0					8																	193775		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.193C>A	8.37:g.193775C>A	ENSP00000381613:p.Leu65Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L65I	ENST00000398612.1	37	c.193	CCDS5951.2	8	.	.	.	.	.	.	.	.	.	.	.	6.201	0.405286	0.11754	.	.	ENSG00000172748	ENST00000521145;ENST00000308811;ENST00000522866;ENST00000398612;ENST00000518414	T;T;T;T	0.06371	5.78;3.31;3.31;5.1	2.38	0.503	0.16940	Krueppel-associated box (2);	.	.	.	.	T	0.03827	0.0108	L	0.41632	1.29	0.22171	N	0.999319	P	0.35155	0.487	B	0.25884	0.064	T	0.42189	-0.9466	9	0.19590	T	0.45	.	2.902	0.05708	0.271:0.571:0.0:0.158	.	65	Q8TC21	ZN596_HUMAN	I	65	ENSP00000429671:L65I;ENSP00000310033:L65I;ENSP00000381613:L65I;ENSP00000430552:L65I	ENSP00000310033:L65I	L	+	1	0	ZNF596	183775	0.720000	0.27996	0.041000	0.18516	0.064000	0.16182	1.183000	0.32041	0.115000	0.18071	0.543000	0.68304	CTT	ZNF596	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000172748		0.433	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF596	HGNC	protein_coding	OTTHUMT00000195858.4	239	0.00	0	C	NM_173539		193775	193775	+1	no_errors	ENST00000308811	ensembl	human	known	69_37n	missense	186	12.68	27	SNP	0.949	A
ZNF600	162966	genome.wustl.edu	37	19	53270851	53270851	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53270851C>A	ENST00000338230.3	-	3	425	c.158G>T	c.(157-159)aGa>aTa	p.R53I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATGGCCATTTCTTTCATCTTC	0.363																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	dbGAP											0													159.0	162.0	161.0					19																	53270851		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.158G>T	19.37:g.53270851C>A	ENSP00000344791:p.Arg53Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R53I	ENST00000338230.3	37	c.158	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	11.27	1.589914	0.28357	.	.	ENSG00000189190	ENST00000338230	T	0.08546	3.08	1.57	0.345	0.16011	.	.	.	.	.	T	0.06416	0.0165	L	0.59436	1.845	0.09310	N	1	P	0.40476	0.718	B	0.28139	0.086	T	0.36138	-0.9760	9	0.23302	T	0.38	.	6.5355	0.22350	0.288:0.712:0.0:0.0	.	53	Q6ZNG1	ZN600_HUMAN	I	53	ENSP00000344791:R53I	ENSP00000344791:R53I	R	-	2	0	ZNF600	57962663	0.000000	0.05858	0.006000	0.13384	0.403000	0.30841	-0.029000	0.12329	-0.007000	0.14345	0.298000	0.19748	AGA	ZNF600	-	NULL	ENSG00000189190		0.363	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	522	0.19	1	C	NM_198457		53270851	53270851	-1	no_errors	ENST00000338230	ensembl	human	known	69_37n	missense	429	11.00	53	SNP	0.027	A
ZNF607	84775	genome.wustl.edu	37	19	38189290	38189290	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38189290C>T	ENST00000355202.4	-	5	2337	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R580Q	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGCATGAGTTCGGTCATGATA	0.403																																						dbGAP											0													46.0	44.0	44.0					19																	38189290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1742G>A	19.37:g.38189290C>T	ENSP00000347338:p.Arg581Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R581Q	ENST00000355202.4	37	c.1742	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	C	16.20	3.057103	0.55325	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.02369	4.32;4.32	1.96	0.862	0.19056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	L	0.50847	1.595	0.09310	N	1	B;D	0.63880	0.233;0.993	B;P	0.50162	0.067;0.633	T	0.38845	-0.9642	9	0.62326	D	0.03	.	3.0499	0.06166	0.4145:0.4252:0.0:0.1604	.	581;580	Q96SK3;F5H141	ZN607_HUMAN;.	Q	581;580	ENSP00000347338:R581Q;ENSP00000438015:R580Q	ENSP00000347338:R581Q	R	-	2	0	ZNF607	42881130	0.000000	0.05858	0.029000	0.17559	0.897000	0.52465	0.238000	0.18004	0.157000	0.19338	-0.379000	0.06801	CGA	ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	62	0.00	0	C	NM_032689		38189290	38189290	-1	no_errors	ENST00000355202	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	0.291	T
ZNF606	80095	genome.wustl.edu	37	19	58490989	58490989	+	Silent	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58490989G>T	ENST00000341164.4	-	7	1679	c.1059C>A	c.(1057-1059)atC>atA	p.I353I	ZNF606_ENST00000536132.1_Silent_p.I263I	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGAAATAAAAGATATTCTCAT	0.343																																						dbGAP											0													101.0	97.0	98.0					19																	58490989		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1059C>A	19.37:g.58490989G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAN2|Q8NE04|Q96JH5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I353	ENST00000341164.4	37	c.1059	CCDS12968.1	19																																																																																			ZNF606	-	NULL	ENSG00000166704		0.343	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	HGNC	protein_coding	OTTHUMT00000405961.1	242	0.00	0	G	NM_025027		58490989	58490989	-1	no_errors	ENST00000341164	ensembl	human	known	69_37n	silent	226	10.67	27	SNP	1.000	T
ZNF608	57507	genome.wustl.edu	37	5	123982772	123982772	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:123982772C>A	ENST00000306315.5	-	4	3740	c.3305G>T	c.(3304-3306)aGa>aTa	p.R1102I	ZNF608_ENST00000504926.1_Missense_Mutation_p.R675I|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1102							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATACTGCTGTCTATAGGCAGG	0.512																																						dbGAP											0													54.0	56.0	55.0					5																	123982772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3305G>T	5.37:g.123982772C>A	ENSP00000307746:p.Arg1102Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.R1102I	ENST00000306315.5	37	c.3305	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356349	0.82243	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.56776	0.44;0.46	5.87	5.87	0.94306	.	0.207800	0.51477	D	0.000085	T	0.74045	0.3665	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74765	-0.3554	10	0.72032	D	0.01	-24.9193	20.2015	0.98260	0.0:1.0:0.0:0.0	.	1102	Q9ULD9	ZN608_HUMAN	I	675;1102	ENSP00000427657:R675I;ENSP00000307746:R1102I	ENSP00000307746:R1102I	R	-	2	0	ZNF608	124010671	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.041000	0.70988	2.773000	0.95371	0.643000	0.83706	AGA	ZNF608	-	NULL	ENSG00000168916		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	98	0.00	0	C	XM_114432		123982772	123982772	-1	no_errors	ENST00000306315	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	1.000	A
ZNF608	57507	genome.wustl.edu	37	5	124080354	124080354	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:124080354T>G	ENST00000306315.5	-	1	764	c.329A>C	c.(328-330)aAa>aCa	p.K110T	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	110							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTTAGAAGTTTTACTCCTTTT	0.493																																						dbGAP											0													85.0	80.0	82.0					5																	124080354		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.329A>C	5.37:g.124080354T>G	ENSP00000307746:p.Lys110Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.K110T	ENST00000306315.5	37	c.329	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	T	18.96	3.734547	0.69189	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.61627	0.09	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000003	T	0.74794	0.3763	M	0.69823	2.125	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	T	0.76318	-0.3003	10	0.51188	T	0.08	-16.0979	15.4807	0.75524	0.0:0.0:0.0:1.0	.	110	Q9ULD9	ZN608_HUMAN	T	110	ENSP00000307746:K110T	ENSP00000307746:K110T	K	-	2	0	ZNF608	124108253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.807000	0.86032	2.196000	0.70406	0.533000	0.62120	AAA	ZNF608	-	NULL	ENSG00000168916		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	170	0.00	0	T	XM_114432		124080354	124080354	-1	no_errors	ENST00000306315	ensembl	human	known	69_37n	missense	162	28.00	63	SNP	1.000	G
ZNF613	79898	genome.wustl.edu	37	19	52448563	52448563	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52448563G>T	ENST00000293471.6	+	6	2106	c.1427G>T	c.(1426-1428)aGa>aTa	p.R476I	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R440I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AACCACCAGAGAATTCACACA	0.433																																						dbGAP											0													76.0	70.0	72.0					19																	52448563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1427G>T	19.37:g.52448563G>T	ENSP00000293471:p.Arg476Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R476I	ENST00000293471.6	37	c.1427	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821772	0.50633	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.24908	1.83;1.83	3.36	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001277	T	0.39784	0.1091	M	0.64630	1.985	0.34755	D	0.732129	D	0.76494	0.999	D	0.76071	0.987	T	0.50440	-0.8828	10	0.87932	D	0	.	5.0539	0.14522	0.2181:0.1793:0.6027:0.0	.	476	Q6PF04	ZN613_HUMAN	I	476;440;150	ENSP00000293471:R476I;ENSP00000375671:R440I	ENSP00000293471:R476I	R	+	2	0	ZNF613	57140375	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.423000	0.21313	0.764000	0.33197	0.655000	0.94253	AGA	ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.433	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	158	0.00	0	G	NM_024840		52448563	52448563	+1	no_errors	ENST00000293471	ensembl	human	known	69_37n	missense	191	13.18	29	SNP	0.970	T
ZNF616	90317	genome.wustl.edu	37	19	52619912	52619912	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52619912T>C	ENST00000600228.1	-	4	766	c.505A>G	c.(505-507)Aca>Gca	p.T169A	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTATTACCTGTCTTCTCCGTT	0.373																																						dbGAP											0													161.0	150.0	154.0					19																	52619912		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.505A>G	19.37:g.52619912T>C	ENSP00000471000:p.Thr169Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T169A	ENST00000600228.1	37	c.505	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	T	4.391	0.072220	0.08436	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	-3.27	0.05048	.	.	.	.	.	T	0.07548	0.0190	N	0.03000	-0.44	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.28073	-1.0055	8	0.02654	T	1	.	0.3723	0.00381	0.3816:0.152:0.145:0.3213	.	169	Q08AN1	ZN616_HUMAN	A	169	.	ENSP00000328722:T169A	T	-	1	0	ZNF616	57311724	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.542000	0.02196	-0.922000	0.03789	0.254000	0.18369	ACA	ZNF616	-	NULL	ENSG00000204611		0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	237	0.00	0	T	XM_030892		52619912	52619912	-1	no_errors	ENST00000330123	ensembl	human	known	69_37n	missense	296	11.08	37	SNP	0.000	C
ZNF619	285267	genome.wustl.edu	37	3	40529260	40529260	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:40529260G>T	ENST00000314686.5	+	6	1616	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	ZNF619_ENST00000456778.1_Missense_Mutation_p.R376I|ZNF619_ENST00000447116.2_Missense_Mutation_p.R460I|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.R420I|ZNF619_ENST00000522736.1_Missense_Mutation_p.R411I|ZNF619_ENST00000429348.2_Missense_Mutation_p.R420I|ZNF619_ENST00000521353.1_Missense_Mutation_p.R460I			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	404					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)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGCATCAGAGAATCCACAAT	0.463																																						dbGAP											0													81.0	85.0	84.0					3																	40529260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1211G>T	3.37:g.40529260G>T	ENSP00000322529:p.Arg404Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R460I	ENST00000314686.5	37	c.1379		3	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777532	0.31411	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000442066;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29;4.29;4.29	2.44	0.466	0.16716	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08935	0.0221	M	0.66939	2.045	0.40373	D	0.97936	D;B;P;P;B;D	0.76494	0.998;0.224;0.457;0.904;0.224;0.999	D;B;B;P;B;D	0.71870	0.961;0.122;0.122;0.703;0.122;0.975	T	0.20907	-1.0261	9	0.62326	D	0.03	.	4.2317	0.10606	0.146:0.0:0.6232:0.2308	.	376;420;460;362;411;404	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	I	404;460;420;376;41;411;460;420	ENSP00000322529:R404I;ENSP00000411132:R460I;ENSP00000398024:R420I;ENSP00000397232:R376I;ENSP00000428004:R411I;ENSP00000430705:R460I;ENSP00000388710:R420I	ENSP00000322529:R404I	R	+	2	0	ZNF619	40504264	0.011000	0.17503	0.752000	0.31206	0.264000	0.26372	1.771000	0.38542	0.324000	0.23333	0.563000	0.77884	AGA	ZNF619	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177873		0.463	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	200	0.50	1	G	NM_173656		40529260	40529260	+1	no_errors	ENST00000447116	ensembl	human	known	69_37n	missense	143	10.62	17	SNP	0.954	T
ZNF623	9831	genome.wustl.edu	37	8	144733408	144733408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:144733408G>T	ENST00000501748.2	+	1	1455	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	ZNF623_ENST00000526926.1_Nonsense_Mutation_p.E416*|ZNF623_ENST00000458270.2_Nonsense_Mutation_p.E416*	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCACACTGGAGAAAAGCCCTA	0.453																																						dbGAP											0													98.0	94.0	96.0					8																	144733408		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1366G>T	8.37:g.144733408G>T	ENSP00000445979:p.Glu456*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU80|B4DGP3|E7ENV5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E456*	ENST00000501748.2	37	c.1366	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.644966	0.98409	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.5419	15.3855	0.74695	0.0:0.0:1.0:0.0	.	.	.	.	X	416;416;416;456;456	.	ENSP00000330358:E416X	E	+	1	0	ZNF623	144804551	1.000000	0.71417	0.802000	0.32245	0.863000	0.49368	4.604000	0.61112	2.289000	0.77006	0.491000	0.48974	GAA	ZNF623	-	pfscan_Znf_C2H2	ENSG00000183309		0.453	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	432	0.00	0	G	NM_014789		144733408	144733408	+1	no_errors	ENST00000501748	ensembl	human	known	69_37n	nonsense	364	11.86	49	SNP	1.000	T
ZNF624	57547	genome.wustl.edu	37	17	16537231	16537231	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:16537231C>A	ENST00000311331.7	-	5	412	c.321G>T	c.(319-321)gaG>gaT	p.E107D	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTTCCCATTCTCCAAATGAG	0.408																																					NSCLC(186;1023 2134 13330 38202 39800)	dbGAP											0													91.0	80.0	84.0					17																	16537231		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.321G>T	17.37:g.16537231C>A	ENSP00000310472:p.Glu107Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E107D	ENST00000311331.7	37	c.321	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445664	0.25987	.	.	ENSG00000197566	ENST00000311331;ENST00000423860	T;T	0.01113	5.32;5.32	3.63	1.62	0.23740	Krueppel-associated box (3);	.	.	.	.	T	0.05044	0.0135	M	0.83012	2.62	0.22827	N	0.99868	D	0.58970	0.984	D	0.65443	0.935	T	0.25847	-1.0120	9	0.52906	T	0.07	.	4.932	0.13921	0.0:0.6364:0.0:0.3635	.	107	Q9P2J8	ZN624_HUMAN	D	107	ENSP00000310472:E107D;ENSP00000406525:E107D	ENSP00000310472:E107D	E	-	3	2	ZNF624	16477956	0.017000	0.18338	1.000000	0.80357	0.995000	0.86356	-0.137000	0.10389	0.887000	0.36136	0.591000	0.81541	GAG	ZNF624	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197566		0.408	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3	222	0.00	0	C	XM_047617		16537231	16537231	-1	no_errors	ENST00000311331	ensembl	human	known	69_37n	missense	86	43.79	67	SNP	0.998	A
ZNF626	199777	genome.wustl.edu	37	19	20807386	20807386	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:20807386C>T	ENST00000601440.1	-	4	1443	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGGTTGAAGGCTTTGCCACAT	0.388																																						dbGAP											0													58.0	54.0	55.0					19																	20807386		2118	4256	6374	-	-	-	SO:0001583	missense	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1297G>A	19.37:g.20807386C>T	ENSP00000469958:p.Ala433Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A433T	ENST00000601440.1	37	c.1297	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	2.425	-0.332150	0.05314	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15696	0.0378	N	0.04355	-0.22	0.24042	N	0.996071	P	0.44241	0.829	P	0.47299	0.543	T	0.14868	-1.0457	8	0.44086	T	0.13	.	4.0949	0.09986	0.6085:0.3915:0.0:0.0	.	433	Q68DY1	ZN626_HUMAN	T	433;357;433	.	ENSP00000445201:A433T	A	-	1	0	ZNF626	20599226	0.000000	0.05858	0.091000	0.20842	0.092000	0.18411	-0.944000	0.03913	0.284000	0.22305	0.289000	0.19496	GCC	ZNF626	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	61	0.00	0	C	NM_145297		20807386	20807386	-1	no_errors	ENST00000305570	ensembl	human	known	69_37n	missense	38	20.41	10	SNP	0.326	T
ZNF626	199777	genome.wustl.edu	37	19	20828215	20828215	+	Intron	SNP	A	A	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:20828215A>G	ENST00000601440.1	-	3	373				ZNF626_ENST00000291750.6_Missense_Mutation_p.L89P|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						tatgtcatgaagaggactttg	0.383																																						dbGAP											0													64.0	68.0	66.0					19																	20828215		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.226+274T>C	19.37:g.20828215A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.L89P	ENST00000601440.1	37	c.266	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	7.526	0.657591	0.14645	.	.	ENSG00000188171	ENST00000291750	T	0.00912	5.55	0.18	0.18	0.15068	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.09310	N	0.999997	P	0.42296	0.775	B	0.44315	0.446	T	0.50136	-0.8863	7	0.72032	D	0.01	.	.	.	.	.	89	Q96QM1	.	P	89	ENSP00000291750:L89P	ENSP00000291750:L89P	L	-	2	0	ZNF626	20620055	0.091000	0.21658	0.073000	0.20177	0.074000	0.17049	0.313000	0.19415	0.243000	0.21327	0.241000	0.17934	CTT	ZNF626	-	NULL	ENSG00000188171		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	296	0.00	0	A	NM_145297		20828215	20828215	-1	no_errors	ENST00000291750	ensembl	human	known	69_37n	missense	173	15.61	32	SNP	0.086	G
ZNF630	57232	genome.wustl.edu	37	X	47918479	47918479	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47918479C>A	ENST00000409324.3	-	5	1578	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	ZNF630_ENST00000276054.4_Missense_Mutation_p.R327I|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.R437I	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TGTATGAATTCTTTGATGTCC	0.448																																						dbGAP											0													61.0	59.0	60.0					X																	47918479		2194	4288	6482	-	-	-	SO:0001583	missense	0			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.1352G>T	X.37:g.47918479C>A	ENSP00000386393:p.Arg451Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R451I	ENST00000409324.3	37	c.1352	CCDS35237.2	X	.	.	.	.	.	.	.	.	.	.	.	15.41	2.825216	0.50739	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.24908	1.83;1.83;1.83	2.54	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42223	0.1193	L	0.54323	1.7	0.38864	D	0.956555	D	0.89917	1.0	D	0.78314	0.991	T	0.43163	-0.9408	9	0.72032	D	0.01	.	10.254	0.43385	0.0:1.0:0.0:0.0	.	451	Q2M218	ZN630_HUMAN	I	437;327;451	ENSP00000393163:R437I;ENSP00000354683:R327I;ENSP00000386393:R451I	ENSP00000354683:R327I	R	-	2	0	ZNF630	47803423	0.000000	0.05858	0.984000	0.44739	0.953000	0.61014	0.165000	0.16564	1.299000	0.44798	0.538000	0.68166	AGA	ZNF630	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221994		0.448	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	265	0.00	0	C	NM_001037735		47918479	47918479	-1	no_errors	ENST00000409324	ensembl	human	known	69_37n	missense	175	31.91	82	SNP	1.000	A
ZNF638	27332	genome.wustl.edu	37	2	71635258	71635258	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:71635258C>A	ENST00000409544.1	+	20	3772	c.3142C>A	c.(3142-3144)Ctt>Att	p.L1048I	ZNF638_ENST00000264447.4_Missense_Mutation_p.L1048I|ZNF638_ENST00000409407.1_5'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.L1048I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1048					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAAGGCAATTCTTCAGTTAGA	0.318																																						dbGAP											0													95.0	98.0	97.0					2																	71635258		2203	4299	6502	-	-	-	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3142C>A	2.37:g.71635258C>A	ENSP00000386433:p.Leu1048Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.L1048I	ENST00000409544.1	37	c.3142	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902283	0.52227	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.57107	0.42;1.56;1.56	5.05	4.09	0.47781	.	0.131139	0.35291	N	0.003301	T	0.65460	0.2693	M	0.61703	1.905	0.80722	D	1	D;D;P;P	0.69078	0.997;0.99;0.95;0.953	D;D;P;B	0.72982	0.978;0.979;0.73;0.388	T	0.59841	-0.7378	10	0.27082	T	0.32	-13.6957	12.4025	0.55420	0.1688:0.8312:0.0:0.0	.	1048;1048;1048;1048	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	I	627;1048;1048;1048	ENSP00000348066:L1048I;ENSP00000264447:L1048I;ENSP00000386433:L1048I	ENSP00000264447:L1048I	L	+	1	0	ZNF638	71488766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.474000	0.45154	2.737000	0.93849	0.585000	0.79938	CTT	ZNF638	-	NULL	ENSG00000075292		0.318	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	321	0.00	0	C	NM_014497		71635258	71635258	+1	no_errors	ENST00000264447	ensembl	human	known	69_37n	missense	200	11.06	25	SNP	1.000	A
ZFP69B	65243	genome.wustl.edu	37	1	40928972	40928972	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:40928972G>T	ENST00000411995.2	+	6	1691	c.1316G>T	c.(1315-1317)aGa>aTa	p.R439I	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R337I|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	439					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)										CAACACCAGAGAACTCATACT	0.378																																						dbGAP											0													82.0	85.0	84.0					1																	40928972		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1316G>T	1.37:g.40928972G>T	ENSP00000399664:p.Arg439Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R439I	ENST00000411995.2	37	c.1316	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	.	17.42	3.386148	0.61956	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.24908	1.83;1.83	3.14	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42471	0.1204	L	0.50847	1.595	0.48901	D	0.999721	D	0.89917	1.0	D	0.74674	0.984	T	0.40308	-0.9570	9	0.87932	D	0	.	12.5051	0.55977	0.0:0.0:1.0:0.0	.	439	Q9UJL9	ZN643_HUMAN	I	370;439;337	ENSP00000399664:R439I;ENSP00000354547:R337I	ENSP00000354547:R337I	R	+	2	0	ZNF643	40701559	0.502000	0.26107	0.996000	0.52242	0.998000	0.95712	1.946000	0.40283	2.052000	0.61016	0.591000	0.81541	AGA	ZNF643	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187801		0.378	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF643	HGNC	protein_coding	OTTHUMT00000019078.2	334	0.00	0	G	NM_023070		40928972	40928972	+1	no_errors	ENST00000411995	ensembl	human	known	69_37n	missense	203	28.52	81	SNP	1.000	T
ZNF652	22834	genome.wustl.edu	37	17	47375797	47375797	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:47375797T>G	ENST00000362063.2	-	6	2117	c.1799A>C	c.(1798-1800)aAc>aCc	p.N600T	ZNF652_ENST00000430262.2_Missense_Mutation_p.N600T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	600	Mediates interaction with CBFA2T3.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGCTGAACTGTTCTTCTCTGC	0.532																																						dbGAP											0													109.0	87.0	94.0					17																	47375797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.1799A>C	17.37:g.47375797T>G	ENSP00000354686:p.Asn600Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N600T	ENST00000362063.2	37	c.1799	CCDS32677.1	17	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004218	0.35320	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.76578	-1.03;-1.03	4.41	0.858	0.19030	.	0.283080	0.38605	N	0.001638	T	0.49440	0.1557	N	0.08118	0	0.30343	N	0.785543	B	0.02656	0.0	B	0.04013	0.001	T	0.33574	-0.9863	10	0.11485	T	0.65	-3.2641	5.1512	0.15011	0.0:0.1648:0.3205:0.5147	.	600	Q9Y2D9	ZN652_HUMAN	T	600	ENSP00000354686:N600T;ENSP00000416305:N600T	ENSP00000354686:N600T	N	-	2	0	ZNF652	44730796	0.998000	0.40836	0.850000	0.33497	0.984000	0.73092	0.393000	0.20817	0.021000	0.15133	0.482000	0.46254	AAC	ZNF652	-	NULL	ENSG00000198740		0.532	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF652	HGNC	protein_coding	OTTHUMT00000364524.1	658	0.00	0	T	NM_014897		47375797	47375797	-1	no_errors	ENST00000362063	ensembl	human	known	69_37n	missense	512	16.72	103	SNP	0.995	G
ZNF660	285349	genome.wustl.edu	37	3	44636460	44636460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44636460C>T	ENST00000322734.2	+	3	1108	c.775C>T	c.(775-777)Cga>Tga	p.R259*	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TACTTCTAATCGAAACCTTGT	0.373																																						dbGAP											0													59.0	60.0	60.0					3																	44636460		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.775C>T	3.37:g.44636460C>T	ENSP00000324605:p.Arg259*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z331|Q8N9M8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R259*	ENST00000322734.2	37	c.775	CCDS2716.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.512608	0.96402	.	.	ENSG00000144792	ENST00000322734	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.28108	N	0.931129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1249	0.30992	0.0:0.8902:0.0:0.1098	.	.	.	.	X	259	.	.	R	+	1	2	ZNF660	44611464	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.031000	0.13710	2.330000	0.79161	0.650000	0.86243	CGA	ZNF660	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000144792		0.373	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF660	HGNC	protein_coding	OTTHUMT00000256756.4	97	0.00	0	C	NM_173658		44636460	44636460	+1	no_errors	ENST00000322734	ensembl	human	known	69_37n	nonsense	104	25.71	36	SNP	0.548	T
ZNF671	79891	genome.wustl.edu	37	19	58232505	58232505	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58232505C>T	ENST00000317398.6	-	4	1044	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	ZNF671_ENST00000335820.3_Missense_Mutation_p.E219K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E317*(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCCCACATTCGTTACACTCA	0.473																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											102.0	96.0	98.0					19																	58232505		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.949G>A	19.37:g.58232505C>T	ENSP00000321848:p.Glu317Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF07|Q9H5E9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E317K	ENST00000317398.6	37	c.949	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	C	7.371	0.626773	0.14257	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.07327	3.2;3.2	1.94	-0.399	0.12415	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	L	0.39467	1.215	0.09310	N	1	B	0.31125	0.309	B	0.24155	0.051	T	0.35943	-0.9768	9	0.37606	T	0.19	.	4.9122	0.13827	0.0:0.6351:0.2185:0.1464	.	317	Q8TAW3	ZN671_HUMAN	K	317;219	ENSP00000321848:E317K;ENSP00000338670:E219K	ENSP00000321848:E317K	E	-	1	0	ZNF671	62924317	0.000000	0.05858	0.072000	0.20136	0.903000	0.53119	-3.549000	0.00434	-0.015000	0.14150	0.467000	0.42956	GAA	ZNF671	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083814		0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	94	0.00	0	C	NM_024833		58232505	58232505	-1	no_errors	ENST00000317398	ensembl	human	known	69_37n	missense	67	30.93	30	SNP	0.014	T
ZNF674	641339	genome.wustl.edu	37	X	46359977	46359977	+	Silent	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:46359977T>C	ENST00000523374.1	-	6	1257	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	ZNF674_ENST00000414387.2_Silent_p.Q343Q|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TGTGAATTCTTTGATATATAA	0.363																																						dbGAP											0													87.0	86.0	86.0					X																	46359977		1908	4122	6030	-	-	-	SO:0001819	synonymous_variant	0			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1047A>G	X.37:g.46359977T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE2|E9PHQ4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q349	ENST00000523374.1	37	c.1047	CCDS48099.1	X																																																																																			ZNF674	-	NULL	ENSG00000251192		0.363	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	198	0.00	0	T	NM_001039891		46359977	46359977	-1	no_errors	ENST00000523374	ensembl	human	known	69_37n	silent	140	17.65	30	SNP	0.001	C
ZNF674	641339	genome.wustl.edu	37	X	46360443	46360443	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:46360443C>A	ENST00000523374.1	-	6	791	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF674_ENST00000414387.2_Missense_Mutation_p.R188I|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						GTCAAAAAATCTCTCTGCAGG	0.393																																						dbGAP											0													38.0	32.0	34.0					X																	46360443		1899	4098	5997	-	-	-	SO:0001583	missense	0			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.581G>T	X.37:g.46360443C>A	ENSP00000429148:p.Arg194Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE2|E9PHQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R194I	ENST00000523374.1	37	c.581	CCDS48099.1	X	.	.	.	.	.	.	.	.	.	.	c	0.935	-0.711489	0.03230	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.04862	3.54;3.54	1.81	-2.75	0.05914	.	.	.	.	.	T	0.06735	0.0172	M	0.64997	1.995	0.33284	D	0.562642	B;B	0.17465	0.022;0.002	B;B	0.12156	0.007;0.004	T	0.12811	-1.0533	9	0.87932	D	0	.	4.1528	0.10245	0.0:0.1409:0.3772:0.4819	.	188;194	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	I	194;188	ENSP00000429148:R194I;ENSP00000428248:R188I	ENSP00000428248:R188I	R	-	2	0	ZNF674	46245387	0.002000	0.14202	0.003000	0.11579	0.015000	0.08874	-0.244000	0.08903	-0.845000	0.04179	-0.443000	0.05667	AGA	ZNF674	-	NULL	ENSG00000251192		0.393	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	325	0.00	0	C	NM_001039891		46360443	46360443	-1	no_errors	ENST00000523374	ensembl	human	known	69_37n	missense	201	28.47	80	SNP	0.866	A
ZNF674	641339	genome.wustl.edu	37	X	46360533	46360533	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:46360533C>A	ENST00000523374.1	-	6	701	c.491G>T	c.(490-492)aGa>aTa	p.R164I	ZNF674_ENST00000414387.2_Missense_Mutation_p.R158I|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TACATAGCTTCTATTTTGACC	0.328																																						dbGAP											0													51.0	45.0	47.0					X																	46360533		1985	4163	6148	-	-	-	SO:0001583	missense	0			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.491G>T	X.37:g.46360533C>A	ENSP00000429148:p.Arg164Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE2|E9PHQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R164I	ENST00000523374.1	37	c.491	CCDS48099.1	X	.	.	.	.	.	.	.	.	.	.	C	8.547	0.874640	0.17395	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.05081	3.5;3.51	1.79	0.901	0.19284	.	.	.	.	.	T	0.18383	0.0441	M	0.85777	2.775	0.37059	D	0.897981	D;P	0.64830	0.994;0.803	P;B	0.61328	0.887;0.41	T	0.06356	-1.0831	9	0.56958	D	0.05	.	3.7151	0.08435	0.0:0.756:0.0:0.244	.	158;164	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	I	164;158	ENSP00000429148:R164I;ENSP00000428248:R158I	ENSP00000428248:R158I	R	-	2	0	ZNF674	46245477	0.006000	0.16342	0.137000	0.22149	0.763000	0.43281	-0.061000	0.11693	0.237000	0.21200	0.436000	0.28706	AGA	ZNF674	-	NULL	ENSG00000251192		0.328	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	249	0.00	0	C	NM_001039891		46360533	46360533	-1	no_errors	ENST00000523374	ensembl	human	known	69_37n	missense	174	13.00	26	SNP	0.962	A
ZNF676	163223	genome.wustl.edu	37	19	22363716	22363716	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22363716A>C	ENST00000397121.2	-	3	1120	c.803T>G	c.(802-804)cTt>cGt	p.L268R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATGTGTATTAAGGGTTGAGAC	0.393																																						dbGAP											0													88.0	94.0	92.0					19																	22363716		2149	4273	6422	-	-	-	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.803T>G	19.37:g.22363716A>C	ENSP00000380310:p.Leu268Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L268R	ENST00000397121.2	37	c.803	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	13.25	2.180260	0.38511	.	.	ENSG00000196109	ENST00000397121	T	0.53640	0.61	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63896	0.2550	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.50939	-0.8768	9	0.87932	D	0	.	6.592	0.22651	1.0:0.0:0.0:0.0	.	268	Q8N7Q3	ZN676_HUMAN	R	268	ENSP00000380310:L268R	ENSP00000380310:L268R	L	-	2	0	ZNF676	22155556	0.887000	0.30362	0.005000	0.12908	0.005000	0.04900	4.624000	0.61254	0.166000	0.19597	0.164000	0.16699	CTT	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	167	0.00	0	A	NM_001001411		22363716	22363716	-1	no_errors	ENST00000397121	ensembl	human	known	69_37n	missense	100	22.90	30	SNP	0.010	C
ZNF678	339500	genome.wustl.edu	37	1	227842301	227842301	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:227842301G>T	ENST00000343776.5	+	4	695	c.350G>T	c.(349-351)aGa>aTa	p.R117I	ZNF678_ENST00000397097.3_Missense_Mutation_p.R172I|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GAACATAAGAGAATTCATACT	0.333																																						dbGAP											0													51.0	57.0	55.0					1																	227842301		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.350G>T	1.37:g.227842301G>T	ENSP00000344828:p.Arg117Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R172I	ENST00000343776.5	37	c.515		1	.	.	.	.	.	.	.	.	.	.	g	3.623	-0.077076	0.07184	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.24908	1.83;1.83;4.29	1.83	-3.67	0.04476	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21509	0.0518	M	0.79926	2.475	0.37133	D	0.901349	B	0.16603	0.018	B	0.15484	0.013	T	0.26608	-1.0098	9	0.24483	T	0.36	.	0.9577	0.01389	0.144:0.1854:0.2959:0.3747	.	117	Q5SXM1	ZN678_HUMAN	I	117;172;172	ENSP00000344828:R117I;ENSP00000440403:R172I;ENSP00000394651:R172I	ENSP00000344828:R117I	R	+	2	0	ZNF678	225908924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.183000	0.03079	-2.560000	0.00474	-2.890000	0.00095	AGA	ZNF678	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181450		0.333	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	99	0.00	0	G	NM_178549		227842301	227842301	+1	no_errors	ENST00000397097	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	0.760	T
ZNF679	168417	genome.wustl.edu	37	7	63726631	63726631	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:63726631C>A	ENST00000421025.1	+	5	889	c.620C>A	c.(619-621)aCt>aAt	p.T207N	ZNF679_ENST00000255746.4_Missense_Mutation_p.T207N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATAATTCATACTAGGGAGAAT	0.353																																						dbGAP											0													59.0	58.0	59.0					7																	63726631		692	1591	2283	-	-	-	SO:0001583	missense	0			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.620C>A	7.37:g.63726631C>A	ENSP00000416809:p.Thr207Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T207N	ENST00000421025.1	37	c.620	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	C	9.001	0.980049	0.18812	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.11385	2.78;2.78	0.819	0.819	0.18785	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11580	0.0282	L	0.53780	1.695	0.25938	N	0.98291	B	0.25048	0.117	B	0.32980	0.156	T	0.36841	-0.9731	9	0.72032	D	0.01	.	3.2503	0.06812	0.0:0.6532:0.0:0.3467	.	207	Q8IYX0	ZN679_HUMAN	N	207	ENSP00000416809:T207N;ENSP00000255746:T207N	ENSP00000255746:T207N	T	+	2	0	ZNF679	63364066	0.000000	0.05858	0.092000	0.20876	0.092000	0.18411	-1.796000	0.01750	0.191000	0.20236	0.194000	0.17425	ACT	ZNF679	-	pfscan_Znf_C2H2	ENSG00000197123		0.353	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	162	0.00	0	C	NM_153363		63726631	63726631	+1	no_errors	ENST00000255746	ensembl	human	known	69_37n	missense	193	16.09	37	SNP	0.999	A
ZNF680	340252	genome.wustl.edu	37	7	63982164	63982164	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:63982164T>G	ENST00000309683.6	-	4	1119	c.968A>C	c.(967-969)aAa>aCa	p.K323T	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTCTTCACATTTGAAGGGTTT	0.368																																						dbGAP											0													33.0	35.0	34.0					7																	63982164		2202	4297	6499	-	-	-	SO:0001583	missense	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.968A>C	7.37:g.63982164T>G	ENSP00000309330:p.Lys323Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K323T	ENST00000309683.6	37	c.968	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	t	10.90	1.482527	0.26598	.	.	ENSG00000173041	ENST00000309683	T	0.58060	0.36	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55924	0.1951	L	0.35414	1.06	0.27093	N	0.962807	D	0.89917	1.0	D	0.91635	0.999	T	0.42378	-0.9455	9	0.66056	D	0.02	.	4.7382	0.12999	0.0:0.0:0.0:1.0	.	323	Q8NEM1	ZN680_HUMAN	T	323	ENSP00000309330:K323T	ENSP00000309330:K323T	K	-	2	0	ZNF680	63619599	0.000000	0.05858	0.612000	0.29024	0.896000	0.52359	-0.340000	0.07821	0.588000	0.29660	0.402000	0.26972	AAA	ZNF680	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.368	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	53	0.00	0	T	NM_178558		63982164	63982164	-1	no_errors	ENST00000309683	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.535	G
ZNF7	7553	genome.wustl.edu	37	8	146067243	146067243	+	Missense_Mutation	SNP	G	G	A	rs548449450		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:146067243G>A	ENST00000528372.1	+	5	991	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	ZNF7_ENST00000325241.6_Missense_Mutation_p.E251K|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000529819.1_3'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.E262K|ZNF7_ENST00000544249.1_Missense_Mutation_p.E155K			P17097	ZNF7_HUMAN	zinc finger protein 7	251					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAAGCCGTACGAATGTGCAGA	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22718	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													79.0	79.0	79.0					8																	146067243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.751G>A	8.37:g.146067243G>A	ENSP00000432724:p.Glu251Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E251K	ENST00000528372.1	37	c.751	CCDS6435.1	8	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319239	0.41096	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.99	-2.65	0.06095	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.288170	0.05451	N	0.549506	T	0.04543	0.0124	N	0.00637	-1.305	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.08055	0.003;0.003	T	0.31861	-0.9928	10	0.07482	T	0.82	-1.6596	3.3834	0.07262	0.504:0.1124:0.269:0.1146	.	262;251	B4DT08;P17097	.;ZNF7_HUMAN	K	251;262;155;251	ENSP00000320627:E251K;ENSP00000393260:E262K;ENSP00000439424:E155K;ENSP00000432724:E251K	ENSP00000320627:E251K	E	+	1	0	ZNF7	146038047	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.472000	0.00459	-0.468000	0.06922	-0.258000	0.10820	GAA	ZNF7	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147789		0.443	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	31	0.00	0	G	NM_003416		146067243	146067243	+1	no_errors	ENST00000325241	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	0.000	A
ZNF7	7553	genome.wustl.edu	37	8	146067401	146067401	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:146067401G>A	ENST00000528372.1	+	5	1149	c.909G>A	c.(907-909)gaG>gaA	p.E303E	ZNF7_ENST00000325241.6_Silent_p.E303E|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Silent_p.E314E|ZNF7_ENST00000544249.1_Silent_p.E207E			P17097	ZNF7_HUMAN	zinc finger protein 7	303					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		ACACTGGGGAGAAGCCCTACA	0.488																																						dbGAP											0													62.0	68.0	66.0					8																	146067401		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.909G>A	8.37:g.146067401G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E303	ENST00000528372.1	37	c.909	CCDS6435.1	8																																																																																			ZNF7	-	pfscan_Znf_C2H2	ENSG00000147789		0.488	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	73	0.00	0	G	NM_003416		146067401	146067401	+1	no_errors	ENST00000325241	ensembl	human	known	69_37n	silent	81	12.77	12	SNP	1.000	A
ZNF702P	79986	genome.wustl.edu	37	19	53473930	53473930	+	RNA	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53473930T>C	ENST00000600068.1	-	0	435				ZNF702P_ENST00000270443.4_RNA																							TCTTTCATCTTCTTGCCACTG	0.393																																						dbGAP											0																																										-	-	-			0																															19.37:g.53473930T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-	ENSG00000242779		0.393	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	42	0.00	0	T			53473930	53473930	-1	no_errors	ENST00000270443	ensembl	human	known	69_37n	rna	48	11.11	6	SNP	0.032	C
ZNF704	619279	genome.wustl.edu	37	8	81733711	81733711	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr8:81733711G>A	ENST00000327835.3	-	2	350	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	40							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GATCCGGCTGGCTTTTTTGGT	0.428																																						dbGAP											0													330.0	310.0	317.0					8																	81733711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.119C>T	8.37:g.81733711G>A	ENSP00000331462:p.Ala40Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE6|B9EGW6	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.A40V	ENST00000327835.3	37	c.119	CCDS34913.1	8	.	.	.	.	.	.	.	.	.	.	G	6.372	0.436730	0.12104	.	.	ENSG00000164684	ENST00000327835;ENST00000519936	D;D	0.82255	-1.59;-1.59	5.78	1.91	0.25777	.	0.618559	0.16651	N	0.205201	T	0.62974	0.2472	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.50566	-0.8813	10	0.33141	T	0.24	-3.9488	6.5089	0.22210	0.1991:0.2452:0.5557:0.0	.	40	Q6ZNC4	ZN704_HUMAN	V	40	ENSP00000331462:A40V;ENSP00000427715:A40V	ENSP00000331462:A40V	A	-	2	0	ZNF704	81896266	0.105000	0.21958	0.754000	0.31244	0.974000	0.67602	0.918000	0.28678	0.333000	0.23563	-0.302000	0.09304	GCC	ZNF704	-	NULL	ENSG00000164684		0.428	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2	309	0.00	0	G	NM_001033723		81733711	81733711	-1	no_errors	ENST00000327835	ensembl	human	known	69_37n	missense	229	13.81	37	SNP	0.183	A
ZNF709	163051	genome.wustl.edu	37	19	12575804	12575804	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12575804T>G	ENST00000397732.3	-	4	1103	c.932A>C	c.(931-933)aAa>aCa	p.K311T	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.K311T	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CCCACATTTTTTACATTTATA	0.378																																					GBM(33;565 669 12371 29134 51667)	dbGAP											0													32.0	35.0	34.0					19																	12575804		2165	4280	6445	-	-	-	SO:0001583	missense	0			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.932A>C	19.37:g.12575804T>G	ENSP00000380840:p.Lys311Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4E6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K311T	ENST00000397732.3	37	c.932	CCDS42504.1	19	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216261	0.39201	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07908	3.15;3.15	2.71	0.565	0.17309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.205916	0.24141	N	0.041171	T	0.03915	0.0110	N	0.11651	0.15	0.09310	N	1	B	0.16603	0.018	B	0.26693	0.072	T	0.36939	-0.9727	10	0.39692	T	0.17	.	3.7224	0.08462	0.0:0.235:0.1919:0.573	.	311	Q8N972	ZN709_HUMAN	T	311	ENSP00000380840:K311T;ENSP00000404127:K311T	ENSP00000404127:K311T	K	-	2	0	ZNF709;CTD-2192J16.17	12436804	0.000000	0.05858	0.337000	0.25536	0.993000	0.82548	-3.191000	0.00564	0.064000	0.16427	0.383000	0.25322	AAA	ZNF709	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000242852		0.378	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF709	HGNC	protein_coding	OTTHUMT00000344088.1	71	0.00	0	T	NM_152601		12575804	12575804	-1	no_errors	ENST00000397732	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	0.119	G
ZNF708	7562	genome.wustl.edu	37	19	21477465	21477465	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:21477465T>G	ENST00000356929.3	-	4	500	c.303A>C	c.(301-303)agA>agC	p.R101S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TTCCATATCTTCTCAGTATCA	0.363																																						dbGAP											0													99.0	95.0	96.0					19																	21477465		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.303A>C	19.37:g.21477465T>G	ENSP00000349401:p.Arg101Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R101S	ENST00000356929.3	37	c.303	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	4.705	0.131078	0.08981	.	.	ENSG00000182141	ENST00000356929	T	0.06371	3.31	0.449	0.449	0.16619	.	.	.	.	.	T	0.11707	0.0285	M	0.80028	2.48	0.09310	N	1	B	0.13594	0.008	B	0.32149	0.141	T	0.29274	-1.0017	8	0.52906	T	0.07	.	.	.	.	.	101	P17019	ZN708_HUMAN	S	101	ENSP00000349401:R101S	ENSP00000349401:R101S	R	-	3	2	ZNF708	21269305	0.001000	0.12720	0.032000	0.17829	0.030000	0.12068	0.668000	0.25127	0.402000	0.25451	0.391000	0.25812	AGA	ZNF708	-	NULL	ENSG00000182141		0.363	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	118	0.00	0	T	NM_021269		21477465	21477465	-1	no_errors	ENST00000356929	ensembl	human	known	69_37n	missense	70	37.50	42	SNP	0.000	G
ZNF713	349075	genome.wustl.edu	37	7	56007596	56007596	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:56007596G>A	ENST00000429591.2	+	4	1228	c.1190G>A	c.(1189-1191)aGt>aAt	p.S397N	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S397N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTAGCCAGAGTGCACACCTT	0.408																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											51.0	52.0	52.0					7																	56007596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1190G>A	7.37:g.56007596G>A	ENSP00000416662:p.Ser397Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S397N	ENST00000429591.2	37	c.1190	CCDS34639.1	7	.	.	.	.	.	.	.	.	.	.	G	0.877	-0.730116	0.03135	.	.	ENSG00000178665	ENST00000429591	T	0.10477	2.87	3.54	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000302	T	0.10078	0.0247	L	0.40543	1.245	0.09310	N	1	D	0.57257	0.979	P	0.49252	0.604	T	0.15896	-1.0421	10	0.22109	T	0.4	.	4.2798	0.10827	0.1179:0.0:0.6536:0.2286	.	397	Q8N859	ZN713_HUMAN	N	397	ENSP00000416662:S397N	ENSP00000416662:S397N	S	+	2	0	ZNF713	55975090	0.007000	0.16637	0.985000	0.45067	0.445000	0.32107	0.571000	0.23669	1.022000	0.39626	0.467000	0.42956	AGT	ZNF713	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178665		0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF713	HGNC	protein_coding	OTTHUMT00000343297.1	47	0.00	0	G	NM_182633		56007596	56007596	+1	no_errors	ENST00000429591	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	0.117	A
ZNF714	148206	genome.wustl.edu	37	19	21299977	21299977	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:21299977G>T	ENST00000596143.1	+	5	832	c.507G>T	c.(505-507)gaG>gaT	p.E169D	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATATTAGAGAGAATTCTTACC	0.348																																						dbGAP											0													55.0	63.0	61.0					19																	21299977		2178	4273	6451	-	-	-	SO:0001583	missense	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.507G>T	19.37:g.21299977G>T	ENSP00000472368:p.Glu169Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E169D	ENST00000596143.1	37	c.507	CCDS54239.1	19	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234082	0.39498	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.889	0.889	0.19212	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46756	0.1409	L	0.34521	1.04	0.28964	N	0.889666	B;P;P	0.52463	0.305;0.953;0.921	B;P;D	0.64042	0.185;0.898;0.921	T	0.39143	-0.9628	8	0.48119	T	0.1	.	8.5827	0.33640	0.0:0.0:1.0:0.0	.	170;169;170	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	D	169	.	ENSP00000291770:E169D	E	+	3	2	ZNF714	21091817	1.000000	0.71417	0.031000	0.17742	0.030000	0.12068	1.200000	0.32247	0.300000	0.22699	0.306000	0.20318	GAG	ZNF714	-	pfscan_Znf_C2H2	ENSG00000160352		0.348	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	148	0.00	0	G	NM_182515		21299977	21299977	+1	no_errors	ENST00000291770	ensembl	human	known	69_37n	missense	172	14.00	28	SNP	1.000	T
ZNF718	255403	genome.wustl.edu	37	4	155299	155299	+	lincRNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:155299G>T	ENST00000510175.1	+	0	734							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTACATAAGAGAATTCATTCT	0.343																																						dbGAP											0													41.0	46.0	44.0					4																	155299		2066	4225	6291	-	-	-			0			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155299G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ4|Q3SXZ5	RNA	SNP	-	NULL	ENST00000510175.1	37	NULL		4																																																																																			ZNF718	-	-	ENSG00000250312		0.343	ZNF718-002	KNOWN	basic	lincRNA	ZNF718	HGNC	lincRNA	OTTHUMT00000357865.3	91	0.00	0	G	NM_001039127		155299	155299	+1	no_errors	ENST00000400172	ensembl	human	known	69_37n	rna	48	14.29	8	SNP	0.986	T
ZNF718	255403	genome.wustl.edu	37	4	155887	155887	+	lincRNA	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:155887G>T	ENST00000510175.1	+	0	1322							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CAACATAAGAGAACTCATACT	0.348																																						dbGAP											0													22.0	24.0	23.0					4																	155887		1923	4175	6098	-	-	-			0			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155887G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXZ4|Q3SXZ5	RNA	SNP	-	NULL	ENST00000510175.1	37	NULL		4																																																																																			ZNF718	-	-	ENSG00000250312		0.348	ZNF718-002	KNOWN	basic	lincRNA	ZNF718	HGNC	lincRNA	OTTHUMT00000357865.3	106	0.00	0	G	NM_001039127		155887	155887	+1	no_errors	ENST00000400172	ensembl	human	known	69_37n	rna	47	24.19	15	SNP	0.493	T
ZNF721	170960	genome.wustl.edu	37	4	437282	437282	+	Missense_Mutation	SNP	C	C	T	rs535339831	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:437282C>T	ENST00000338977.5	-	2	986	c.938G>A	c.(937-939)aGa>aAa	p.R313K	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R325K|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTCTCCTATGTAC	0.413																																						dbGAP											0													83.0	90.0	88.0					4																	437282		2120	4248	6368	-	-	-	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.938G>A	4.37:g.437282C>T	ENSP00000340524:p.Arg313Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R325K	ENST00000338977.5	37	c.974		4	.	.	.	.	.	.	.	.	.	.	C	8.302	0.820238	0.16678	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.02197	4.4;4.4	0.75	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	N	0.25426	0.745	0.09310	N	1	P;P;B	0.46064	0.872;0.476;0.421	D;B;B	0.64877	0.93;0.392;0.272	T	0.36311	-0.9753	9	0.37606	T	0.19	.	5.4571	0.16596	0.0:0.5988:0.0:0.4012	.	313;325;325	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	K	313;325	ENSP00000340524:R313K;ENSP00000428878:R325K	ENSP00000340524:R313K	R	-	2	0	ZNF721	427282	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-3.034000	0.00636	-1.441000	0.01958	-2.590000	0.00165	AGA	ZNF721	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.413	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	117	0.00	0	C	NM_133474		437282	437282	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	missense	144	12.73	21	SNP	0.342	T
ZNF721	170960	genome.wustl.edu	37	4	438065	438065	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:438065C>T	ENST00000338977.5	-	2	203	c.155G>A	c.(154-156)gGa>gAa	p.G52E	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.G64E|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTATAAACTCCCTTCTGCAC	0.308																																						dbGAP											0													66.0	73.0	71.0					4																	438065		2034	4244	6278	-	-	-	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.155G>A	4.37:g.438065C>T	ENSP00000340524:p.Gly52Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G64E	ENST00000338977.5	37	c.191		4	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.523765	0.00149	.	.	ENSG00000182903	ENST00000338977;ENST00000511833;ENST00000505900	T;T;T	0.04917	3.55;3.53;6.12	1.22	1.22	0.21188	.	.	.	.	.	T	0.02888	0.0086	N	0.17800	0.525	0.09310	N	1	B;B;B	0.23540	0.053;0.053;0.087	B;B;B	0.15870	0.006;0.006;0.014	T	0.44892	-0.9298	9	0.02654	T	1	.	3.5735	0.07926	0.0:0.7234:0.0:0.2766	.	52;64;64	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	E	52;64;96	ENSP00000340524:G52E;ENSP00000428878:G64E;ENSP00000421325:G96E	ENSP00000340524:G52E	G	-	2	0	ZNF721	428065	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	0.068000	0.14531	0.637000	0.30526	0.205000	0.17691	GGA	ZNF721	-	NULL	ENSG00000182903		0.308	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	105	0.00	0	C	NM_133474		438065	438065	-1	no_errors	ENST00000511833	ensembl	human	known	69_37n	missense	108	10.74	13	SNP	0.000	T
ZNF729	100287226	genome.wustl.edu	37	19	22497347	22497347	+	Silent	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22497347C>T	ENST00000601693.1	+	4	1246	c.1128C>T	c.(1126-1128)taC>taT	p.Y376Y	ZNF729_ENST00000357491.6_Silent_p.Y376Y			A6NN14	ZN729_HUMAN	zinc finger protein 729	376					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						AGAAACCCTACAAATGTGAAG	0.388																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.1128C>T	19.37:g.22497347C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	M0QY45	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y376	ENST00000601693.1	37	c.1128	CCDS59368.1	19																																																																																			ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.388	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	26	0.00	0	C	XM_496301		22497347	22497347	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.187	T
ZNF729	100287226	genome.wustl.edu	37	19	22498850	22498850	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22498850G>A	ENST00000601693.1	+	4	2749	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E	ZNF729_ENST00000357491.6_Silent_p.E877E			A6NN14	ZN729_HUMAN	zinc finger protein 729	877					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ATAGTGGAGAGAAACCATACA	0.353																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.2631G>A	19.37:g.22498850G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	M0QY45	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E877	ENST00000601693.1	37	c.2631	CCDS59368.1	19																																																																																			ZNF729	-	pfscan_Znf_C2H2	ENSG00000196350		0.353	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	43	0.00	0	G	XM_496301		22498850	22498850	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	silent	63	10.00	7	SNP	1.000	A
ZNF729	100287226	genome.wustl.edu	37	19	22499084	22499084	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22499084G>A	ENST00000601693.1	+	4	2983	c.2865G>A	c.(2863-2865)aaG>aaA	p.K955K	ZNF729_ENST00000357491.6_Silent_p.K927K			A6NN14	ZN729_HUMAN	zinc finger protein 729	955					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						TGAAGCATAAGATAATTCATA	0.358																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.2865G>A	19.37:g.22499084G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	M0QY45	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K927	ENST00000601693.1	37	c.2781	CCDS59368.1	19																																																																																			ZNF729	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196350		0.358	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	65	0.00	0	G	XM_496301		22499084	22499084	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	silent	84	22.22	24	SNP	0.872	A
ZNF732	654254	genome.wustl.edu	37	4	266264	266264	+	Nonsense_Mutation	SNP	C	C	A	rs148975969	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:266264C>A	ENST00000419098.1	-	4	392	c.382G>T	c.(382-384)Gaa>Taa	p.E128*		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TGATTAAATTCATTATAACCT	0.303																																						dbGAP											0													187.0	156.0	165.0					4																	266264		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.382G>T	4.37:g.266264C>A	ENSP00000415774:p.Glu128*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E128*	ENST00000419098.1	37	c.382	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658470	0.29425	.	.	ENSG00000186777	ENST00000419098	.	.	.	0.946	0.946	0.19549	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	7.3305	0.26580	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000415774:E128X	E	-	1	0	ZNF732	256264	0.000000	0.05858	0.131000	0.22000	0.123000	0.20343	-0.491000	0.06474	0.399000	0.25367	0.400000	0.26472	GAA	ZNF732	-	NULL	ENSG00000186777		0.303	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	307	0.00	0	C	NM_001137608		266264	266264	-1	no_errors	ENST00000419098	ensembl	human	known	69_37n	nonsense	207	18.82	48	SNP	0.028	A
ZNF733P	643955	genome.wustl.edu	37	7	62752132	62752132	+	RNA	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:62752132G>A	ENST00000331425.6	-	0	1303					NR_003952.1				zinc finger protein 733, pseudogene																		TAAGCTAAAGGCTTTGCCACA	0.448																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752132G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.448	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	34	0.00	0	G			62752132	62752132	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	47	16.07	9	SNP	0.777	A
ZNF733P	643955	genome.wustl.edu	37	7	62752431	62752431	+	RNA	SNP	C	C	A	rs540760429	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:62752431C>A	ENST00000331425.6	-	0	1004					NR_003952.1				zinc finger protein 733, pseudogene																		AGTATGAATTCTCTTATGTCT	0.433													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19361	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752431C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.433	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	55	0.00	0	C			62752431	62752431	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	43	37.68	26	SNP	0.774	A
ZNF733P	643955	genome.wustl.edu	37	7	62752599	62752599	+	RNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:62752599C>A	ENST00000331425.6	-	0	836					NR_003952.1				zinc finger protein 733, pseudogene																		AGTATGAATTCTCTTGTGGTT	0.448																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752599C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.448	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	44	0.00	0	C			62752599	62752599	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	49	14.04	8	SNP	1.000	A
ZNF75A	7627	genome.wustl.edu	37	16	3367200	3367200	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:3367200C>A	ENST00000574298.1	+	6	695	c.222C>A	c.(220-222)ctC>ctA	p.L74L	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GGTTAAAGCTCAAAAACGACA	0.353																																						dbGAP											0													65.0	66.0	65.0					16																	3367200		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.222C>A	16.37:g.3367200C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDI8|Q92669	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L74	ENST00000574298.1	37	c.222	CCDS10501.1	16																																																																																			ZNF75A	-	NULL	ENSG00000162086		0.353	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF75A	HGNC	protein_coding	OTTHUMT00000251506.2	57	0.00	0	C	NM_153028		3367200	3367200	+1	no_errors	ENST00000574298	ensembl	human	known	69_37n	silent	31	31.11	14	SNP	0.366	A
ZNF761	388561	genome.wustl.edu	37	19	53958717	53958717	+	RNA	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53958717T>G	ENST00000454407.1	+	0	1409							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CATAGGATAATTCATACTGAA	0.378																																						dbGAP											0													84.0	86.0	85.0					19																	53958717		2203	4300	6503	-	-	-			0			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958717T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-	ENSG00000160336		0.378	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		99	0.00	0	T	NM_001008401		53958717	53958717	+1	no_errors	ENST00000334095	ensembl	human	known	69_37n	rna	102	14.88	18	SNP	0.365	G
ZNF772	400720	genome.wustl.edu	37	19	57985312	57985312	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57985312T>G	ENST00000343280.4	-	5	1060	c.800A>C	c.(799-801)aAa>aCa	p.K267T	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.K155T|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.K226T|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTCACTGCATTTGTAATGCCT	0.502																																					Melanoma(5;289 436 14293 15924 30817)	dbGAP											0													100.0	92.0	95.0					19																	57985312		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.800A>C	19.37:g.57985312T>G	ENSP00000341165:p.Lys267Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K267T	ENST00000343280.4	37	c.800	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	T	10.16	1.274514	0.23307	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.01197	5.19;5.19;5.19	3.55	-0.111	0.13576	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01029	0.0034	L	0.28054	0.825	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.45629	-0.9248	9	0.56958	D	0.05	.	5.9203	0.19078	0.0:0.1089:0.5238:0.3672	.	155;226;267	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	T	267;155;213;226;192	ENSP00000341165:K267T;ENSP00000395967:K155T;ENSP00000348992:K226T	ENSP00000291809:K192T	K	-	2	0	ZNF772	62677124	0.000000	0.05858	0.001000	0.08648	0.402000	0.30811	-2.437000	0.01018	-0.196000	0.10366	0.260000	0.18958	AAA	ZNF772	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197128		0.502	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	125	0.00	0	T	NM_001024596		57985312	57985312	-1	no_errors	ENST00000343280	ensembl	human	known	69_37n	missense	95	30.66	42	SNP	0.000	G
ZNF773	374928	genome.wustl.edu	37	19	58017888	58017888	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58017888T>C	ENST00000282292.4	+	4	565	c.425T>C	c.(424-426)cTa>cCa	p.L142P	ZNF773_ENST00000598770.1_Missense_Mutation_p.L141P|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AGAGTCCACCTATCAGAGAAG	0.502																																						dbGAP											0													72.0	74.0	73.0					19																	58017888		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.425T>C	19.37:g.58017888T>C	ENSP00000282292:p.Leu142Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L142P	ENST00000282292.4	37	c.425	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	T	9.497	1.102240	0.20632	.	.	ENSG00000152439	ENST00000282292	T	0.15834	2.39	0.863	-0.256	0.12984	.	.	.	.	.	T	0.10465	0.0256	N	0.10707	0.03	0.09310	N	1	P;P	0.48503	0.773;0.911	B;P	0.48425	0.324;0.577	T	0.18272	-1.0342	9	0.72032	D	0.01	.	4.2082	0.10498	0.0:0.5292:0.0:0.4707	.	141;142	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	P	142	ENSP00000282292:L142P	ENSP00000282292:L142P	L	+	2	0	ZNF773	62709700	0.000000	0.05858	0.000000	0.03702	0.504000	0.33889	-0.283000	0.08433	-0.170000	0.10816	0.260000	0.18958	CTA	ZNF773	-	NULL	ENSG00000152439		0.502	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	355	0.00	0	T	NM_198542		58017888	58017888	+1	no_errors	ENST00000282292	ensembl	human	known	69_37n	missense	291	10.19	33	SNP	0.003	C
ZNF773	374928	genome.wustl.edu	37	19	58018249	58018249	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:58018249C>A	ENST00000282292.4	+	4	926	c.786C>A	c.(784-786)ctC>ctA	p.L262L	ZNF773_ENST00000598770.1_Silent_p.L261L|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGCTGACCTCATTCAACACC	0.423																																						dbGAP											0													101.0	102.0	101.0					19																	58018249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.786C>A	19.37:g.58018249C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DL8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L262	ENST00000282292.4	37	c.786	CCDS33134.1	19																																																																																			ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152439		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	376	0.00	0	C	NM_198542		58018249	58018249	+1	no_errors	ENST00000282292	ensembl	human	known	69_37n	silent	331	11.02	41	SNP	0.001	A
ZNF778	197320	genome.wustl.edu	37	16	89294118	89294118	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:89294118G>T	ENST00000433976.2	+	6	1670	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D	ZNF778_ENST00000306502.6_Missense_Mutation_p.E404D|RP11-46C24.6_ENST00000563182.1_RNA	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACACTGGAGAGAAACCATATG	0.488																																						dbGAP											0													88.0	92.0	90.0					16																	89294118		2194	4299	6493	-	-	-	SO:0001583	missense	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1338G>T	16.37:g.89294118G>T	ENSP00000405289:p.Glu446Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E446D	ENST00000433976.2	37	c.1338	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221205	0.58560	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.26810	1.71;1.71	1.13	-1.9	0.07665	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25344	0.0616	N	0.25485	0.75	0.21697	N	0.999583	P;P	0.52577	0.944;0.954	P;P	0.57960	0.739;0.83	T	0.15492	-1.0435	9	0.62326	D	0.03	.	3.7716	0.08643	0.1956:0.2519:0.5525:0.0	.	404;446	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	D	446;404	ENSP00000405289:E446D;ENSP00000305203:E404D	ENSP00000305203:E404D	E	+	3	2	ZNF778	87821619	1.000000	0.71417	0.065000	0.19835	0.535000	0.34838	1.355000	0.34068	-0.496000	0.06650	-0.259000	0.10710	GAG	ZNF778	-	pfscan_Znf_C2H2	ENSG00000170100		0.488	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	146	0.00	0	G	NM_182531		89294118	89294118	+1	no_errors	ENST00000433976	ensembl	human	known	69_37n	missense	54	44.33	43	SNP	1.000	T
ZNF780A	284323	genome.wustl.edu	37	19	40578775	40578775	+	IGR	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40578775C>A	ENST00000595687.2	-	0	3472				ZNF780A_ENST00000450241.2_3'UTR|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Nonsense_Mutation_p.E156*	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATAGGATttccaggctacaa	0.388																																						dbGAP											0													87.0	75.0	79.0					19																	40578775		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119		19.37:g.40578775C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB48|Q6ZN87	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.E156*	ENST00000595687.2	37	c.466	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182657	0.38511	.	.	ENSG00000197782	ENST00000414720	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.28822	N	0.897651	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	.	.	.	.	.	.	.	X	156	.	ENSP00000416294:E156X	E	-	1	0	ZNF780A	45270615	0.000000	0.05858	0.169000	0.22859	0.197000	0.23852	-0.503000	0.06383	0.300000	0.22699	0.305000	0.20034	GAA	ZNF780A	-	NULL	ENSG00000197782		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	238	0.42	1	C	NM_001010880		40578775	40578775	-1	no_errors	ENST00000414720	ensembl	human	known	69_37n	nonsense	102	17.07	21	SNP	0.580	A
ZNF780B	163131	genome.wustl.edu	37	19	40540983	40540983	+	Nonsense_Mutation	SNP	G	G	A	rs61730566		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40540983G>A	ENST00000434248.1	-	5	1848	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	ZNF780B_ENST00000221355.6_Nonsense_Mutation_p.R447*	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATATGAAGTCGAAAGGCTTTC	0.413																																						dbGAP											0													114.0	119.0	117.0					19																	40540983		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1783C>T	19.37:g.40540983G>A	ENSP00000391641:p.Arg595*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH00	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R595*	ENST00000434248.1	37	c.1783	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	g	23.9	4.474086	0.84640	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	.	.	.	2.55	-3.65	0.04502	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	1.3792	0.02227	0.1616:0.1295:0.3953:0.3135	.	.	.	.	X	595;447	.	ENSP00000221355:R447X	R	-	1	2	ZNF780B	45232823	0.000000	0.05858	0.001000	0.08648	0.534000	0.34807	-1.082000	0.03400	-0.421000	0.07416	0.448000	0.29417	CGA	ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.413	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	341	0.00	0	G	NM_001005851		40540983	40540983	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	nonsense	249	15.54	46	SNP	0.000	A
ZNF780B	163131	genome.wustl.edu	37	19	40541996	40541996	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40541996G>T	ENST00000434248.1	-	5	835	c.770C>A	c.(769-771)tCt>tAt	p.S257Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S109Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACGATTAAAAGACTTCCCACA	0.388																																						dbGAP											0													107.0	115.0	113.0					19																	40541996		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.770C>A	19.37:g.40541996G>T	ENSP00000391641:p.Ser257Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S257Y	ENST00000434248.1	37	c.770	CCDS46077.1	19	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190360	0.58017	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.04119	3.7;3.7	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18087	0.0434	M	0.80183	2.485	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.03166	-1.1065	9	0.72032	D	0.01	.	6.5379	0.22365	0.0:0.3062:0.6938:0.0	.	257	Q9Y6R6	Z780B_HUMAN	Y	257;109	ENSP00000391641:S257Y;ENSP00000221355:S109Y	ENSP00000221355:S109Y	S	-	2	0	ZNF780B	45233836	0.000000	0.05858	0.159000	0.22649	0.936000	0.57629	-1.316000	0.02710	1.046000	0.40249	0.313000	0.20887	TCT	ZNF780B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	243	0.00	0	G	NM_001005851		40541996	40541996	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	missense	230	11.88	31	SNP	0.098	T
ZNF780A	284323	genome.wustl.edu	37	19	40580628	40580628	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:40580628C>T	ENST00000595687.2	-	6	1930	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	ZNF780A_ENST00000450241.2_Missense_Mutation_p.R540Q|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R574Q|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R575Q|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R575Q|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	574					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTCTGATGTCGAATAAGGTG	0.383																																						dbGAP											0													141.0	141.0	141.0					19																	40580628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1721G>A	19.37:g.40580628C>T	ENSP00000472189:p.Arg574Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB48|Q6ZN87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R575Q	ENST00000595687.2	37	c.1724	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	c	2.252	-0.371256	0.05034	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.26223	1.75;1.75	1.93	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	L	0.33137	0.985	0.09310	N	1	P;B	0.36753	0.568;0.054	B;B	0.31614	0.133;0.004	T	0.24870	-1.0148	9	0.10111	T	0.7	.	2.4627	0.04545	0.2192:0.3078:0.0:0.473	.	575;574	E9PB48;O75290	.;Z780A_HUMAN	Q	574;575;574	ENSP00000400997:R575Q;ENSP00000341507:R574Q	ENSP00000341507:R574Q	R	-	2	0	ZNF780A	45272468	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-4.459000	0.00230	-0.471000	0.06891	0.313000	0.20887	CGA	ZNF780A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	368	0.27	1	C	NM_001010880		40580628	40580628	-1	no_errors	ENST00000455521	ensembl	human	known	69_37n	missense	269	14.56	46	SNP	0.000	T
ZNF789	285989	genome.wustl.edu	37	7	99084142	99084142	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99084142G>T	ENST00000331410.5	+	5	579	c.309G>T	c.(307-309)caG>caT	p.Q103H	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTCCAAAACAGAAATTTTCTG	0.343																																						dbGAP											0													42.0	45.0	44.0					7																	99084142		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.309G>T	7.37:g.99084142G>T	ENSP00000331927:p.Gln103His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q103H	ENST00000331410.5	37	c.309	CCDS34693.1	7	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931695	0.18131	.	.	ENSG00000198556	ENST00000331410	T	0.05649	3.41	2.8	0.96	0.19631	.	.	.	.	.	T	0.05914	0.0154	L	0.39898	1.24	0.25088	N	0.99088	B	0.28552	0.215	B	0.31101	0.124	T	0.38001	-0.9681	9	0.46703	T	0.11	.	4.8524	0.13543	0.2952:0.0:0.7048:0.0	.	103	Q5FWF6	ZN789_HUMAN	H	103	ENSP00000331927:Q103H	ENSP00000331927:Q103H	Q	+	3	2	ZNF789	98922078	0.009000	0.17119	0.056000	0.19401	0.161000	0.22273	1.157000	0.31724	0.246000	0.21394	0.650000	0.86243	CAG	ZNF789	-	NULL	ENSG00000198556		0.343	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1	76	0.00	0	G	NM_213603		99084142	99084142	+1	no_errors	ENST00000331410	ensembl	human	known	69_37n	missense	56	27.27	21	SNP	0.205	T
ZNF79	7633	genome.wustl.edu	37	9	130206325	130206325	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:130206325G>T	ENST00000342483.5	+	5	752	c.346G>T	c.(346-348)Gga>Tga	p.G116*	ZNF79_ENST00000543471.1_Nonsense_Mutation_p.G92*	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GATTATATCTGGATCACCACC	0.483																																						dbGAP											0													76.0	77.0	77.0					9																	130206325		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.346G>T	9.37:g.130206325G>T	ENSP00000362446:p.Gly116*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVW1|Q96NV1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G116*	ENST00000342483.5	37	c.346	CCDS6871.1	9	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696199	0.68386	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	.	.	.	2.92	-1.1	0.09872	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.3696	0.11241	0.3314:0.1712:0.4974:0.0	.	.	.	.	X	116;92	.	ENSP00000362446:G116X	G	+	1	0	ZNF79	129246146	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.765000	0.26546	-0.260000	0.09418	-0.768000	0.03414	GGA	ZNF79	-	NULL	ENSG00000196152		0.483	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF79	HGNC	protein_coding	OTTHUMT00000054188.1	87	0.00	0	G	NM_007135		130206325	130206325	+1	no_errors	ENST00000342483	ensembl	human	known	69_37n	nonsense	62	27.91	24	SNP	0.000	T
ZNF792	126375	genome.wustl.edu	37	19	35449217	35449217	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:35449217G>T	ENST00000404801.1	-	4	1928	c.1542C>A	c.(1540-1542)ttC>ttA	p.F514L	ZNF792_ENST00000605484.1_Missense_Mutation_p.F447L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTTGGTTAAAGAATTTCCCAC	0.512																																					GBM(1;7 183 21053 22581 22847)	dbGAP											0													55.0	50.0	52.0					19																	35449217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1542C>A	19.37:g.35449217G>T	ENSP00000385099:p.Phe514Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F514L	ENST00000404801.1	37	c.1542	CCDS12440.2	19	.	.	.	.	.	.	.	.	.	.	g	7.998	0.754708	0.15778	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.17691	2.26	2.69	-0.741	0.11112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.04705	-0.18	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.33059	-0.9883	9	0.87932	D	0	.	3.7185	0.08448	0.2414:0.0:0.5644:0.1942	.	514	Q3KQV3	ZN792_HUMAN	L	514;274	ENSP00000385099:F514L	ENSP00000368487:F274L	F	-	3	2	ZNF792	40141057	0.000000	0.05858	0.144000	0.22314	0.946000	0.59487	-0.419000	0.07071	-0.065000	0.13021	0.563000	0.77884	TTC	ZNF792	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180884		0.512	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	160	0.00	0	G	NM_175872		35449217	35449217	-1	no_errors	ENST00000404801	ensembl	human	known	69_37n	missense	109	15.50	20	SNP	0.030	T
ZNF792	126375	genome.wustl.edu	37	19	35451236	35451236	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:35451236G>A	ENST00000404801.1	-	3	572	c.186C>T	c.(184-186)atC>atT	p.I62I	ZNF792_ENST00000605484.1_5'UTR	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTGGGAAACGATGTGGGACC	0.542																																					GBM(1;7 183 21053 22581 22847)	dbGAP											0													69.0	57.0	61.0					19																	35451236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.186C>T	19.37:g.35451236G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I62	ENST00000404801.1	37	c.186	CCDS12440.2	19																																																																																			ZNF792	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000180884		0.542	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	158	0.00	0	G	NM_175872		35451236	35451236	-1	no_errors	ENST00000404801	ensembl	human	known	69_37n	silent	89	23.28	27	SNP	0.000	A
ZNF799	90576	genome.wustl.edu	37	19	12501902	12501902	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12501902C>T	ENST00000430385.3	-	4	1510	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q	ZNF799_ENST00000419318.1_Missense_Mutation_p.R405Q|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCATGCCTTCGAAGAGAACT	0.373																																						dbGAP											0													96.0	99.0	98.0					19																	12501902		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1310G>A	19.37:g.12501902C>T	ENSP00000411084:p.Arg437Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R437Q	ENST00000430385.3	37	c.1310	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	C	8.214	0.801040	0.16397	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.07444	3.19;3.19	1.14	-2.28	0.06826	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.17901	0.54	0.09310	N	1	B	0.33022	0.394	B	0.25614	0.062	T	0.45338	-0.9268	9	0.12103	T	0.63	.	5.0894	0.14700	0.0:0.4114:0.0:0.5886	.	437	Q96GE5	ZN799_HUMAN	Q	405;437	ENSP00000415278:R405Q;ENSP00000411084:R437Q	ENSP00000415278:R405Q	R	-	2	0	ZNF799	12362902	0.000000	0.05858	0.023000	0.16930	0.730000	0.41778	-0.741000	0.04855	-0.918000	0.03808	0.195000	0.17529	CGA	ZNF799	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196466		0.373	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	322	0.31	1	C	NM_001080821		12501902	12501902	-1	no_errors	ENST00000430385	ensembl	human	known	69_37n	missense	248	13.59	39	SNP	0.001	T
ZNF799	90576	genome.wustl.edu	37	19	12501958	12501958	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12501958C>A	ENST00000430385.3	-	4	1454	c.1254G>T	c.(1252-1254)gaG>gaT	p.E418D	ZNF799_ENST00000419318.1_Missense_Mutation_p.E386D|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	418					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TATAGGGTTTCTCTGCAGTGT	0.413																																						dbGAP											0													109.0	112.0	111.0					19																	12501958		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1254G>T	19.37:g.12501958C>A	ENSP00000411084:p.Glu418Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E418D	ENST00000430385.3	37	c.1254	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855187	0.32791	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.26810	1.71;1.71	1.14	0.05	0.14292	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25865	0.0630	L	0.56199	1.76	0.28661	N	0.906122	B	0.24768	0.111	B	0.35073	0.195	T	0.40421	-0.9564	9	0.66056	D	0.02	.	5.3779	0.16176	0.0:0.7816:0.0:0.2184	.	418	Q96GE5	ZN799_HUMAN	D	386;418	ENSP00000415278:E386D;ENSP00000411084:E418D	ENSP00000415278:E386D	E	-	3	2	ZNF799	12362958	0.021000	0.18746	0.006000	0.13384	0.103000	0.19146	-0.108000	0.10857	0.052000	0.16007	0.195000	0.17529	GAG	ZNF799	-	pfscan_Znf_C2H2	ENSG00000196466		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	362	0.00	0	C	NM_001080821		12501958	12501958	-1	no_errors	ENST00000430385	ensembl	human	known	69_37n	missense	281	11.88	38	SNP	1.000	A
ZNF793	390927	genome.wustl.edu	37	19	38027861	38027861	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:38027861G>A	ENST00000587143.1	+	6	536	c.301G>A	c.(301-303)Gca>Aca	p.A101T	ZNF793_ENST00000445217.1_Missense_Mutation_p.A101T|ZNF793_ENST00000589319.1_Missense_Mutation_p.A101T|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.A101T			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGCCAGGCGCAGCCATAAG	0.403																																					Melanoma(44;400 1431 1499 19093)	dbGAP											0													48.0	51.0	50.0					19																	38027861		1859	4103	5962	-	-	-	SO:0001583	missense	0			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.301G>A	19.37:g.38027861G>A	ENSP00000468605:p.Ala101Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A101T	ENST00000587143.1	37	c.301	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.572796	0.00887	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.06294	3.32;3.32	4.09	-2.62	0.06152	.	0.618686	0.13443	N	0.387514	T	0.02610	0.0079	N	0.20574	0.59	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.04013	0.001;0.001	T	0.45338	-0.9268	10	0.14252	T	0.57	.	0.6854	0.00882	0.3097:0.1662:0.3542:0.1699	.	101;101	Q6ZN11;E9PGN4	ZN793_HUMAN;.	T	101;101;101;100	ENSP00000444355:A101T;ENSP00000396402:A101T	ENSP00000318811:A100T	A	+	1	0	ZNF793	42719701	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-1.157000	0.03157	-0.108000	0.12066	0.655000	0.94253	GCA	ZNF793	-	NULL	ENSG00000188227		0.403	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	102	0.00	0	G	NM_001013659		38027861	38027861	+1	no_errors	ENST00000445217	ensembl	human	known	69_37n	missense	76	20.39	21	SNP	0.000	A
ZNF800	168850	genome.wustl.edu	37	7	127014590	127014590	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:127014590C>T	ENST00000393313.1	-	5	1391	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.R267Q|ZNF800_ENST00000393312.1_Missense_Mutation_p.R267Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGGATTCTTTCGTGTTTCAAT	0.363																																						dbGAP											0													270.0	253.0	259.0					7																	127014590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.800G>A	7.37:g.127014590C>T	ENSP00000376989:p.Arg267Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R267Q	ENST00000393313.1	37	c.800	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508358	0.27036	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15139	2.45;2.45;2.45	5.68	4.77	0.60923	.	0.058817	0.64402	D	0.000003	T	0.05914	0.0154	N	0.03608	-0.345	0.27524	N	0.951304	B;B	0.20550	0.046;0.046	B;B	0.08055	0.003;0.003	T	0.21177	-1.0253	8	.	.	.	-19.2483	5.3644	0.16105	0.1761:0.6702:0.0:0.1537	.	170;267	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Q	267	ENSP00000376989:R267Q;ENSP00000265827:R267Q;ENSP00000376988:R267Q	.	R	-	2	0	ZNF800	126801826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.621000	0.46418	2.685000	0.91497	0.650000	0.86243	CGA	ZNF800	-	NULL	ENSG00000048405		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	831	0.24	2	C	NM_176814		127014590	127014590	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	missense	351	25.95	123	SNP	1.000	T
ZNF804A	91752	genome.wustl.edu	37	2	185802282	185802282	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:185802282G>T	ENST00000302277.6	+	4	2753	c.2159G>T	c.(2158-2160)aGa>aTa	p.R720I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	720							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACATATTCTAGAACTTACTGT	0.323																																						dbGAP											0													56.0	53.0	54.0					2																	185802282		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2159G>T	2.37:g.185802282G>T	ENSP00000303252:p.Arg720Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.R720I	ENST00000302277.6	37	c.2159	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630497	0.67015	.	.	ENSG00000170396	ENST00000302277	T	0.09817	2.94	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000006	T	0.23171	0.0560	L	0.55481	1.735	0.50813	D	0.999895	D	0.71674	0.998	D	0.63488	0.915	T	0.00324	-1.1817	10	0.72032	D	0.01	-25.2639	8.2079	0.31467	0.0848:0.1602:0.755:0.0	.	720	Q7Z570	Z804A_HUMAN	I	720	ENSP00000303252:R720I	ENSP00000303252:R720I	R	+	2	0	ZNF804A	185510527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.408000	0.52651	2.826000	0.97356	0.655000	0.94253	AGA	ZNF804A	-	NULL	ENSG00000170396		0.323	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	111	0.00	0	G	NM_194250		185802282	185802282	+1	no_errors	ENST00000302277	ensembl	human	known	69_37n	missense	78	21.21	21	SNP	1.000	T
ZNF804A	91752	genome.wustl.edu	37	2	185802602	185802602	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr2:185802602G>A	ENST00000302277.6	+	4	3073	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	827							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACTTTAGAACTCAAAGA	0.388																																						dbGAP											0													43.0	48.0	46.0					2																	185802602		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2479G>A	2.37:g.185802602G>A	ENSP00000303252:p.Glu827Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E827K	ENST00000302277.6	37	c.2479	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	6.145	0.395009	0.11638	.	.	ENSG00000170396	ENST00000302277	T	0.07444	3.19	5.81	4.92	0.64577	.	0.426103	0.22008	N	0.065909	T	0.04543	0.0124	N	0.12746	0.255	0.09310	N	1	B	0.21381	0.055	B	0.14578	0.011	T	0.42616	-0.9441	10	0.15066	T	0.55	-6.293	9.457	0.38760	0.1617:0.0:0.8383:0.0	.	827	Q7Z570	Z804A_HUMAN	K	827	ENSP00000303252:E827K	ENSP00000303252:E827K	E	+	1	0	ZNF804A	185510847	0.974000	0.33945	0.029000	0.17559	0.337000	0.28794	3.026000	0.49689	1.433000	0.47394	0.655000	0.94253	GAA	ZNF804A	-	NULL	ENSG00000170396		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	117	0.00	0	G	NM_194250		185802602	185802602	+1	no_errors	ENST00000302277	ensembl	human	known	69_37n	missense	95	12.04	13	SNP	0.081	A
ZNF805	390980	genome.wustl.edu	37	19	57765160	57765160	+	Nonsense_Mutation	SNP	C	C	T	rs201070451		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57765160C>T	ENST00000414468.2	+	4	973	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZNF805_ENST00000535550.1_Nonsense_Mutation_p.R192*|ZNF805_ENST00000354309.4_Nonsense_Mutation_p.R192*	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CAAAGCCTTTCGAGATAGGCC	0.483																																						dbGAP											0													40.0	41.0	41.0					19																	57765160		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.973C>T	19.37:g.57765160C>T	ENSP00000412999:p.Arg325*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R325*	ENST00000414468.2	37	c.973	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.607208	0.96626	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309;ENST00000541238	.	.	.	3.86	0.478	0.16789	.	2.636820	0.01548	N	0.019563	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	0.8436	0.01155	0.3108:0.3476:0.1521:0.1895	.	.	.	.	X	192;325;192;24	.	ENSP00000365414:R192X	R	+	1	2	ZNF805	62456972	0.000000	0.05858	0.960000	0.40013	0.988000	0.76386	-0.477000	0.06583	0.211000	0.20683	0.563000	0.77884	CGA	ZNF805	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204524		0.483	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	120	0.00	0	C	NM_001023563		57765160	57765160	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	nonsense	100	15.97	19	SNP	0.085	T
ZNF81	347344	genome.wustl.edu	37	X	47705663	47705663	+	5'UTR	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chrX:47705663G>A	ENST00000376954.1	+	0	365				ZNF81_ENST00000483520.1_3'UTR|ZNF81_ENST00000338637.7_5'UTR|ZNF81_ENST00000334937.4_5'UTR			P51508	ZNF81_HUMAN	zinc finger protein 81						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGTCCGTCGGGAACATGCCAG	0.572																																						dbGAP											0													41.0	43.0	42.0					X																	47705663		2013	4146	6159	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.-4G>A	X.37:g.47705663G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6RX22|Q96QH6	RNA	SNP	-	NULL	ENST00000376954.1	37	NULL	CCDS43933.1	X																																																																																			ZNF81	-	-	ENSG00000197779		0.572	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	328	0.00	0	G	NM_007137		47705663	47705663	+1	no_errors	ENST00000483520	ensembl	human	known	69_37n	rna	185	13.89	30	SNP	0.062	A
ZNF823	55552	genome.wustl.edu	37	19	11833306	11833306	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11833306C>T	ENST00000341191.6	-	4	1196	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	ZNF823_ENST00000545749.1_Missense_Mutation_p.R166Q	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCATGATTTCGAACTGAACT	0.418										HNSCC(68;0.2)																												dbGAP											0													124.0	122.0	123.0					19																	11833306		2203	4300	6503	-	-	-	SO:0001583	missense	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1043G>A	19.37:g.11833306C>T	ENSP00000340683:p.Arg348Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R348Q	ENST00000341191.6	37	c.1043	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	c	5.687	0.311315	0.10789	.	.	ENSG00000197933	ENST00000545749;ENST00000341191;ENST00000431998	T;T;T	0.04275	3.66;3.66;3.66	0.632	-0.83	0.10792	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.11154	0.105	0.09310	N	1	B	0.26845	0.161	B	0.22880	0.042	T	0.46076	-0.9217	9	0.06099	T	0.92	.	5.1431	0.14969	0.0:0.7427:0.0:0.2573	.	348	P16415	ZN823_HUMAN	Q	166;348;304	ENSP00000440162:R166Q;ENSP00000340683:R348Q;ENSP00000410654:R304Q	ENSP00000340683:R348Q	R	-	2	0	ZNF823	11694306	0.000000	0.05858	0.003000	0.11579	0.915000	0.54546	-1.495000	0.02294	-0.247000	0.09597	0.298000	0.19748	CGA	ZNF823	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197933		0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	185	0.00	0	C	NM_001080493		11833306	11833306	-1	no_errors	ENST00000341191	ensembl	human	known	69_37n	missense	126	30.39	55	SNP	0.000	T
ZNF823	55552	genome.wustl.edu	37	19	11834079	11834079	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11834079C>A	ENST00000341191.6	-	4	423	c.270G>T	c.(268-270)aaG>aaT	p.K90N	ZNF823_ENST00000545749.1_5'UTR|CTC-499B15.6_ENST00000586983.1_RNA|ZNF823_ENST00000440527.1_3'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						GAGGAGTGTTCTTGTTCACAA	0.388										HNSCC(68;0.2)																												dbGAP											0													74.0	72.0	72.0					19																	11834079		2183	4289	6472	-	-	-	SO:0001583	missense	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.270G>T	19.37:g.11834079C>A	ENSP00000340683:p.Lys90Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K90N	ENST00000341191.6	37	c.270	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	c	9.601	1.128686	0.21041	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.07800	4.06;3.16	0.632	0.632	0.17705	Krueppel-associated box (1);	.	.	.	.	T	0.04452	0.0122	N	0.12182	0.205	0.26737	N	0.970461	B	0.13145	0.007	B	0.11329	0.006	T	0.37009	-0.9724	9	0.56958	D	0.05	.	4.4684	0.11700	1.0E-4:0.5744:0.4256:0.0	.	90	P16415	ZN823_HUMAN	N	90;46	ENSP00000340683:K90N;ENSP00000410654:K46N	ENSP00000340683:K90N	K	-	3	2	ZNF823	11695079	0.000000	0.05858	0.126000	0.21872	0.363000	0.29612	-0.923000	0.04000	0.618000	0.30179	0.298000	0.19748	AAG	ZNF823	-	pfscan_Krueppel-associated_box	ENSG00000197933		0.388	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	141	0.00	0	C	NM_001080493		11834079	11834079	-1	no_errors	ENST00000341191	ensembl	human	known	69_37n	missense	156	13.33	24	SNP	0.411	A
ZNF816	125893	genome.wustl.edu	37	19	53454447	53454447	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53454447C>A	ENST00000357666.4	-	5	881	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R194I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAGAAATTCTTTGGGATTC	0.373																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											81.0	95.0	91.0					19																	53454447		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.581G>T	19.37:g.53454447C>A	ENSP00000350295:p.Arg194Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R194I	ENST00000357666.4	37	c.581	CCDS33096.1	19	.	.	.	.	.	.	.	.	.	.	-	7.988	0.752568	0.15778	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06142	3.34;3.34	1.58	-1.63	0.08345	.	.	.	.	.	T	0.07143	0.0181	M	0.72624	2.21	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.37549	-0.9701	9	0.66056	D	0.02	.	2.1508	0.03799	0.2991:0.4872:0.0:0.2137	.	194	Q0VGE8	ZN816_HUMAN	I	194	ENSP00000350295:R194I;ENSP00000403266:R194I	ENSP00000350295:R194I	R	-	2	0	ZNF816	58146259	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-0.985000	0.03751	-0.560000	0.06102	0.185000	0.17295	AGA	ZNF816	-	NULL	ENSG00000180257		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	121	0.00	0	C	NM_001031665		53454447	53454447	-1	no_errors	ENST00000357666	ensembl	human	known	69_37n	missense	97	28.68	39	SNP	0.010	A
ZNF827	152485	genome.wustl.edu	37	4	146770595	146770595	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr4:146770595G>A	ENST00000508784.1	-	6	2327	c.2100C>T	c.(2098-2100)atC>atT	p.I700I	ZNF827_ENST00000379448.4_Silent_p.I700I|ZNF827_ENST00000513320.1_Silent_p.I350I|ZNF827_ENST00000511534.1_5'UTR			Q17R98	ZN827_HUMAN	zinc finger protein 827	700					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCTCTCGCCCGATTAAAGTGC	0.502																																						dbGAP											0													131.0	136.0	134.0					4																	146770595		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2100C>T	4.37:g.146770595G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I700	ENST00000508784.1	37	c.2100		4																																																																																			ZNF827	-	NULL	ENSG00000151612		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	HGNC	protein_coding	OTTHUMT00000364654.2	348	0.00	0	G	NM_178835		146770595	146770595	-1	no_errors	ENST00000508784	ensembl	human	known	69_37n	silent	210	32.70	103	SNP	0.800	A
ZNF831	128611	genome.wustl.edu	37	20	57829518	57829518	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:57829518G>T	ENST00000371030.2	+	5	4754	c.4754G>T	c.(4753-4755)aGa>aTa	p.R1585I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1585							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGAAGGGAGACACAAGACG	0.473																																						dbGAP											0													74.0	72.0	73.0					20																	57829518		1920	4128	6048	-	-	-	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4754G>T	20.37:g.57829518G>T	ENSP00000360069:p.Arg1585Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1585I	ENST00000371030.2	37	c.4754	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300972	0.23650	.	.	ENSG00000124203	ENST00000371030	T	0.09911	2.93	5.66	1.42	0.22433	.	0.562269	0.17164	N	0.184549	T	0.16214	0.0390	L	0.48642	1.525	0.20489	N	0.999899	D	0.60575	0.988	P	0.54664	0.758	T	0.07328	-1.0778	10	0.72032	D	0.01	-1.3027	7.5257	0.27653	0.3144:0.0:0.6856:0.0	.	1585	Q5JPB2	ZN831_HUMAN	I	1585	ENSP00000360069:R1585I	ENSP00000360069:R1585I	R	+	2	0	ZNF831	57262913	0.000000	0.05858	0.092000	0.20876	0.280000	0.26924	-0.027000	0.12371	0.027000	0.15297	0.650000	0.86243	AGA	ZNF831	-	NULL	ENSG00000124203		0.473	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	75	0.00	0	G	NM_178457		57829518	57829518	+1	no_errors	ENST00000371030	ensembl	human	novel	69_37n	missense	36	12.20	5	SNP	0.110	T
ZNF833P	401898	genome.wustl.edu	37	19	11796280	11796280	+	lincRNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:11796280C>A	ENST00000344893.3	+	0	2279					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TATTCCAGTTCTATTCGAAAT	0.368																																						dbGAP											0													42.0	42.0	42.0					19																	11796280		2203	4300	6503	-	-	-			0			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796280C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPA0	RNA	SNP	-	NULL	ENST00000344893.3	37	NULL		19																																																																																			ZNF833P	-	-	ENSG00000197332		0.368	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	ZNF833P	HGNC	lincRNA	OTTHUMT00000458891.1	92	0.00	0	C	NM_001013691		11796280	11796280	+1	no_errors	ENST00000344893	ensembl	human	known	69_37n	rna	99	10.00	11	SNP	0.001	A
ZNF846	162993	genome.wustl.edu	37	19	9873999	9873999	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9873999C>A	ENST00000397902.2	-	3	514	c.101G>T	c.(100-102)aGa>aTa	p.R34I	ZNF846_ENST00000586293.1_Missense_Mutation_p.R34I|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CATCACATCTCTGTAGAGATC	0.398																																						dbGAP											0													125.0	130.0	128.0					19																	9873999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.101G>T	19.37:g.9873999C>A	ENSP00000380999:p.Arg34Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R34I	ENST00000397902.2	37	c.101	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	17.33	3.363096	0.61513	.	.	ENSG00000196605	ENST00000397902	T	0.02763	4.17	2.17	2.17	0.27698	Krueppel-associated box (4);	.	.	.	.	T	0.18425	0.0442	H	0.94345	3.525	0.36409	D	0.863595	D	0.69078	0.997	D	0.87578	0.998	T	0.12016	-1.0564	8	.	.	.	.	7.9087	0.29778	0.0:1.0:0.0:0.0	.	34	Q147U1	ZN846_HUMAN	I	34	ENSP00000380999:R34I	.	R	-	2	0	ZNF846	9734999	0.808000	0.29022	0.998000	0.56505	0.989000	0.77384	0.021000	0.13489	1.537000	0.49254	0.514000	0.50259	AGA	ZNF846	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196605		0.398	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	229	0.00	0	C	NM_001077624		9873999	9873999	-1	no_errors	ENST00000397902	ensembl	human	known	69_37n	missense	233	12.41	33	SNP	0.998	A
ZNF846	162993	genome.wustl.edu	37	19	9874024	9874024	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:9874024C>T	ENST00000397902.2	-	3	489	c.76G>A	c.(76-78)Gat>Aat	p.D26N	ZNF846_ENST00000586293.1_Missense_Mutation_p.D26N|ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGGGCTTGATCCAACAAAGTC	0.428																																						dbGAP											0													137.0	142.0	140.0					19																	9874024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.76G>A	19.37:g.9874024C>T	ENSP00000380999:p.Asp26Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D26N	ENST00000397902.2	37	c.76	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	13.57	2.275770	0.40294	.	.	ENSG00000196605	ENST00000397902	T	0.02525	4.26	2.17	-0.0442	0.13856	Krueppel-associated box (4);	.	.	.	.	T	0.04182	0.0116	L	0.59912	1.85	0.09310	N	1	B	0.30033	0.266	B	0.37451	0.25	T	0.42344	-0.9457	8	.	.	.	.	4.3521	0.11160	0.0:0.6417:0.0:0.3583	.	26	Q147U1	ZN846_HUMAN	N	26	ENSP00000380999:D26N	.	D	-	1	0	ZNF846	9735024	0.080000	0.21391	0.113000	0.21522	0.992000	0.81027	0.179000	0.16840	0.058000	0.16222	0.514000	0.50259	GAT	ZNF846	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196605		0.428	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	218	0.00	0	C	NM_001077624		9874024	9874024	-1	no_errors	ENST00000397902	ensembl	human	known	69_37n	missense	224	14.18	37	SNP	0.144	T
ZNF844	284391	genome.wustl.edu	37	19	12187719	12187719	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12187719C>T	ENST00000439326.3	+	4	1959	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	595					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						ACAAAGCATTCATATCTGCCA	0.378																																						dbGAP											0													119.0	108.0	111.0					19																	12187719		692	1591	2283	-	-	-	SO:0001583	missense	0			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1784C>T	19.37:g.12187719C>T	ENSP00000392024:p.Ser595Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S595L	ENST00000439326.3	37	c.1784	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989643	0.35131	.	.	ENSG00000223547	ENST00000439326	T	0.05139	3.49	2.2	-4.08	0.03963	.	.	.	.	.	T	0.03871	0.0109	N	0.16233	0.39	0.22001	N	0.999429	B	0.13594	0.008	B	0.08055	0.003	T	0.40040	-0.9584	9	0.48119	T	0.1	.	8.9505	0.35785	0.0:0.3064:0.0:0.6936	.	595	Q08AG5	ZN844_HUMAN	L	595	ENSP00000392024:S595L	ENSP00000392024:S595L	S	+	2	0	ZNF844	12048719	0.000000	0.05858	0.002000	0.10522	0.313000	0.28021	-0.059000	0.11731	-1.084000	0.03092	0.205000	0.17691	TCA	ZNF844	-	NULL	ENSG00000223547		0.378	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	205	0.49	1	C			12187719	12187719	+1	no_errors	ENST00000439326	ensembl	human	known	69_37n	missense	153	23.76	48	SNP	0.000	T
ZNF850	342892	genome.wustl.edu	37	19	37238940	37238940	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:37238940C>T	ENST00000591344.1	-	5	3160	c.3002G>A	c.(3001-3003)cGa>cAa	p.R1001Q	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	1001					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTGTGAGTTCGCTGATGTCG	0.408																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.3002G>A	19.37:g.37238940C>T	ENSP00000464976:p.Arg1001Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R1001Q	ENST00000591344.1	37	c.3002	CCDS59379.1	19																																																																																			ZNF850	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267041		0.408	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	20	0.00	0	C	XM_001720258		37238940	37238940	-1	no_errors	ENST00000591344	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	0.000	T
ZNF841	284371	genome.wustl.edu	37	19	52569185	52569185	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:52569185C>A	ENST00000426391.2	-	5	2153	c.1602G>T	c.(1600-1602)gaG>gaT	p.E534D	ZNF841_ENST00000594295.1_Missense_Mutation_p.E650D|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.E650D|ZNF841_ENST00000359973.2_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TATAAGGTTTCTCTCCGGTAT	0.433																																						dbGAP											0													96.0	91.0	92.0					19																	52569185		692	1591	2283	-	-	-	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1602G>T	19.37:g.52569185C>A	ENSP00000415453:p.Glu534Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E650D	ENST00000426391.2	37	c.1950		19	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723921	0.68959	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.26810	1.71;1.71	1.99	0.928	0.19443	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28134	0.0694	N	0.25789	0.76	0.80722	D	1	P;B	0.45396	0.857;0.058	P;B	0.59761	0.863;0.049	T	0.12192	-1.0557	9	0.66056	D	0.02	.	5.3163	0.15856	0.0:0.6971:0.0:0.3029	.	650;534	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	D	650;534	ENSP00000374185:E650D;ENSP00000415453:E534D	ENSP00000374185:E650D	E	-	3	2	ZNF841	57260997	0.000000	0.05858	0.019000	0.16419	0.868000	0.49771	-0.645000	0.05409	1.089000	0.41292	0.313000	0.20887	GAG	ZNF841	-	pfscan_Znf_C2H2	ENSG00000197608		0.433	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	258	0.00	0	C	XM_209155		52569185	52569185	-1	no_errors	ENST00000389534	ensembl	human	known	69_37n	missense	200	21.57	55	SNP	0.909	A
ZNF845	91664	genome.wustl.edu	37	19	53855216	53855216	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:53855216C>T	ENST00000595091.1	+	5	1507	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	ZNF845_ENST00000458035.1_Missense_Mutation_p.R430C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTATACCATCGTAGACTTCA	0.398																																						dbGAP											0													36.0	32.0	33.0					19																	53855216		692	1591	2283	-	-	-	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1288C>T	19.37:g.53855216C>T	ENSP00000470005:p.Arg430Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R430C	ENST00000595091.1	37	c.1288	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	C	8.069	0.769815	0.15983	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36699	1.24	1.9	-1.06	0.10002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27278	0.0669	L	0.41124	1.26	0.09310	N	1	B	0.25955	0.138	B	0.28139	0.086	T	0.31420	-0.9944	9	0.87932	D	0	.	6.3126	0.21173	0.2075:0.5902:0.2023:0.0	.	430	Q96IR2	ZN845_HUMAN	C	430	ENSP00000388311:R430C	ENSP00000412086:R430C	R	+	1	0	ZNF845	58547028	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.271000	0.18626	-0.346000	0.08312	0.411000	0.27672	CGT	ZNF845	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213799		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	94	0.00	0	C	XM_039908		53855216	53855216	+1	no_errors	ENST00000458035	ensembl	human	known	69_37n	missense	61	39.00	39	SNP	0.107	T
ZNF835	90485	genome.wustl.edu	37	19	57176545	57176545	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:57176545C>T	ENST00000537055.2	-	2	253	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCCTGGAGGGCGACGCTCAAG	0.517																																						dbGAP											0													63.0	65.0	64.0					19																	57176545		1967	4146	6113	-	-	-	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.22G>A	19.37:g.57176545C>T	ENSP00000444747:p.Ala8Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A8T	ENST00000537055.2	37	c.22	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579686	0.28180	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06687	3.27	2.82	-5.63	0.02474	.	.	.	.	.	T	0.02156	0.0067	N	0.04508	-0.205	0.09310	N	1	P	0.40970	0.734	B	0.29353	0.101	T	0.42999	-0.9418	9	0.27082	T	0.32	.	4.4835	0.11778	0.1694:0.2553:0.0:0.5753	.	30	Q9Y2P0	ZN835_HUMAN	T	30;8	ENSP00000444747:A8T	ENSP00000341756:A30T	A	-	1	0	ZNF835	61868357	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.225000	0.02956	-1.525000	0.01762	-0.258000	0.10820	GCC	ZNF835	-	NULL	ENSG00000127903		0.517	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	75	0.00	0	C	NM_001005850		57176545	57176545	-1	no_errors	ENST00000537055	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.000	T
ZNF860	344787	genome.wustl.edu	37	3	32030798	32030798	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:32030798C>T	ENST00000360311.4	+	2	776	c.227C>T	c.(226-228)tCa>tTa	p.S76L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGTTCTCATCAACAGCGCAA	0.423																																						dbGAP											0													86.0	69.0	74.0					3																	32030798		692	1591	2283	-	-	-	SO:0001583	missense	0			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.227C>T	3.37:g.32030798C>T	ENSP00000373274:p.Ser76Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFA4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S76L	ENST00000360311.4	37	c.227	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	C	1.497	-0.552972	0.03996	.	.	ENSG00000197385	ENST00000360311	T	0.05382	3.45	0.345	-0.691	0.11305	Krueppel-associated box (3);	.	.	.	.	T	0.08268	0.0206	N	0.20807	0.61	0.09310	N	1	P	0.48350	0.909	P	0.60789	0.879	T	0.32348	-0.9910	8	.	.	.	.	4.5418	0.12061	0.0:0.6806:0.0:0.3194	.	76	A6NHJ4	ZN860_HUMAN	L	76	ENSP00000373274:S76L	.	S	+	2	0	ZNF860	32005802	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.912000	0.28597	-0.519000	0.06444	-0.515000	0.04445	TCA	ZNF860	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197385		0.423	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	133	0.00	0	C			32030798	32030798	+1	no_errors	ENST00000360311	ensembl	human	known	69_37n	missense	124	23.46	38	SNP	0.002	T
ZNF852	285346	genome.wustl.edu	37	3	44541145	44541145	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:44541145C>T	ENST00000436261.1	-	4	1284	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	ZNF852_ENST00000489411.1_5'UTR			Q6ZMS4	ZN852_HUMAN	zinc finger protein 852	375						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|lung(5)	8						AGTATGAATTCGCTCATGTTC	0.428																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC014381		3p21.32	2013-01-08			ENSG00000178917	ENSG00000178917		"""Zinc fingers, C2H2-type"", ""-"""	27713	protein-coding gene	gene with protein product							Standard	NM_001287349		Approved		uc011azx.2	Q6ZMS4	OTTHUMG00000156453	ENST00000436261.1:c.1124G>A	3.37:g.44541145C>T	ENSP00000389841:p.Arg375Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLD7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R375Q	ENST00000436261.1	37	c.1124		3	.	.	.	.	.	.	.	.	.	.	c	16.16	3.043926	0.55110	.	.	ENSG00000178917	ENST00000436261;ENST00000313378	T	0.24723	1.84	3.43	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50257	0.1605	.	.	.	0.27285	N	0.957996	D	0.89917	1.0	D	0.91635	0.999	T	0.41215	-0.9521	8	0.72032	D	0.01	.	14.4883	0.67631	0.0:1.0:0.0:0.0	.	341	Q6ZMS4	ZN852_HUMAN	Q	375	ENSP00000389841:R375Q	ENSP00000322569:R375Q	R	-	2	0	ZNF852	44516149	0.002000	0.14202	0.999000	0.59377	0.238000	0.25445	1.410000	0.34691	1.866000	0.54105	0.305000	0.20034	CGA	ZNF852	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178917		0.428	ZNF852-001	KNOWN	basic|appris_principal	protein_coding	ZNF852	HGNC	protein_coding	OTTHUMT00000344244.1	82	0.00	0	C	XM_001717402		44541145	44541145	-1	no_errors	ENST00000436261	ensembl	human	known	69_37n	missense	77	22.22	22	SNP	0.997	T
ZNF878	729747	genome.wustl.edu	37	19	12154972	12154972	+	Missense_Mutation	SNP	C	C	T	rs539241283		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:12154972C>T	ENST00000547628.1	-	4	1381	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.R462Q	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTGAGTTCGTATGTGCTT	0.433																																						dbGAP											0													73.0	77.0	75.0					19																	12154972		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1244G>A	19.37:g.12154972C>T	ENSP00000447931:p.Arg415Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R415Q	ENST00000547628.1	37	c.1244	CCDS45984.2	19	.	.	.	.	.	.	.	.	.	.	C	17.36	3.371032	0.61624	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.02369	4.32	1.3	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.42744	1.35	0.09310	N	1	D	0.60575	0.988	P	0.45681	0.49	T	0.44390	-0.9331	9	0.72032	D	0.01	.	3.5458	0.07828	0.2778:0.4466:0.2756:0.0	.	415	C9JN71	ZN878_HUMAN	Q	415;462	ENSP00000447931:R415Q	ENSP00000447931:R415Q	R	-	2	0	AC022415.4;ZNF878	12015972	0.000000	0.05858	0.001000	0.08648	0.851000	0.48451	0.677000	0.25262	0.675000	0.31264	0.313000	0.20887	CGA	ZNF878	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257446		0.433	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	94	0.00	0	C	NM_001080404		12154972	12154972	-1	no_errors	ENST00000547628	ensembl	human	novel	69_37n	missense	88	26.05	31	SNP	0.041	T
ZNF883	169834	genome.wustl.edu	37	9	115759518	115759518	+	lincRNA	SNP	C	C	A	rs376231861		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115759518C>A	ENST00000427548.1	-	0	2295							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTATGTATTCGCTTATGTTT	0.398																																						dbGAP											0													129.0	142.0	138.0					9																	115759518		2141	4276	6417	-	-	-			0			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759518C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000427548.1	37	NULL		9																																																																																			ZNF883	-	-	ENSG00000228623		0.398	ZNF883-001	KNOWN	basic	lincRNA	ZNF883	HGNC	lincRNA	OTTHUMT00000053704.1	413	0.00	0	C	NM_001101338		115759518	115759518	-1	no_errors	ENST00000427548	ensembl	human	known	69_37n	rna	346	12.18	48	SNP	0.015	A
ZNF883	169834	genome.wustl.edu	37	9	115760176	115760176	+	lincRNA	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr9:115760176C>A	ENST00000427548.1	-	0	1637							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TAGGGTTTTTCTCCAGTATGG	0.378																																						dbGAP											0													63.0	68.0	66.0					9																	115760176		2170	4288	6458	-	-	-			0			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760176C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000427548.1	37	NULL		9																																																																																			ZNF883	-	-	ENSG00000228623		0.378	ZNF883-001	KNOWN	basic	lincRNA	ZNF883	HGNC	lincRNA	OTTHUMT00000053704.1	150	0.00	0	C	NM_001101338		115760176	115760176	-1	no_errors	ENST00000427548	ensembl	human	known	69_37n	rna	115	13.53	18	SNP	1.000	A
ZNF90	7643	genome.wustl.edu	37	19	20229156	20229156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:20229156G>T	ENST00000418063.2	+	4	905	c.793G>T	c.(793-795)Gaa>Taa	p.E265*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	265					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TTGTGGCAAAGAATTAAAGTA	0.373																																						dbGAP											0													12.0	24.0	21.0					19																	20229156		686	1572	2258	-	-	-	SO:0001587	stop_gained	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.793G>T	19.37:g.20229156G>T	ENSP00000410466:p.Glu265*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH87	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E265*	ENST00000418063.2	37	c.793	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	5.683	0.310678	0.10733	.	.	ENSG00000213988	ENST00000418063	.	.	.	1.11	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3123	0.26481	0.0:0.0:1.0:0.0	.	.	.	.	X	265	.	.	E	+	1	0	ZNF90	20090156	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-2.011000	0.01452	0.181000	0.19994	0.184000	0.17185	GAA	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.373	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	321	0.00	0	G	NM_007138		20229156	20229156	+1	no_errors	ENST00000418063	ensembl	human	known	69_37n	nonsense	246	12.77	36	SNP	0.137	T
ZNF90	7643	genome.wustl.edu	37	19	20229445	20229445	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:20229445G>A	ENST00000418063.2	+	4	1194	c.1082G>A	c.(1081-1083)aGa>aAa	p.R361K	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	361					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACACATAAGAGAATTCATACT	0.383																																						dbGAP											0													30.0	28.0	29.0					19																	20229445		692	1591	2283	-	-	-	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1082G>A	19.37:g.20229445G>A	ENSP00000410466:p.Arg361Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R361K	ENST00000418063.2	37	c.1082	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	g	8.019	0.759219	0.15846	.	.	ENSG00000213988	ENST00000418063	T	0.18338	2.22	1.18	-0.141	0.13452	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14570	0.0352	L	0.55103	1.725	0.26658	N	0.97196	B	0.09022	0.002	B	0.11329	0.006	T	0.33675	-0.9859	8	.	.	.	.	6.0727	0.19897	0.0:0.0:0.704:0.296	.	361	Q03938	ZNF90_HUMAN	K	361	ENSP00000410466:R361K	.	R	+	2	0	ZNF90	20090445	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	0.383000	0.20651	-1.330000	0.02255	-1.347000	0.01240	AGA	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.383	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	47	0.00	0	G	NM_007138		20229445	20229445	+1	no_errors	ENST00000418063	ensembl	human	known	69_37n	missense	67	24.72	22	SNP	1.000	A
ZNF91	7644	genome.wustl.edu	37	19	23544385	23544385	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:23544385C>A	ENST00000300619.7	-	4	1601	c.1396G>T	c.(1396-1398)Gaa>Taa	p.E466*	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Nonsense_Mutation_p.E434*	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	466					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.378																																						dbGAP											0													60.0	66.0	64.0					19																	23544385		2154	4275	6429	-	-	-	SO:0001587	stop_gained	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1396G>T	19.37:g.23544385C>A	ENSP00000300619:p.Glu466*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E1|B7Z6G6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E466*	ENST00000300619.7	37	c.1396	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682305	0.47991	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	.	.	.	1.5	0.0474	0.14280	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.0219	0.30415	0.0:0.5773:0.4226:0.0	.	.	.	.	X	466;434	.	ENSP00000300619:E466X	E	-	1	0	ZNF91	23336225	0.000000	0.05858	0.051000	0.19133	0.046000	0.14306	-1.739000	0.01840	0.787000	0.33731	0.185000	0.17295	GAA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.378	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	259	0.00	0	C	NM_003430		23544385	23544385	-1	no_errors	ENST00000300619	ensembl	human	known	69_37n	nonsense	133	30.00	57	SNP	0.004	A
ZNF91	7644	genome.wustl.edu	37	19	23544756	23544756	+	Missense_Mutation	SNP	C	C	T	rs374821944	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:23544756C>T	ENST00000300619.7	-	4	1230	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R310K	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	342					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R342I(2)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.373																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											58.0	61.0	60.0					19																	23544756		2066	4231	6297	-	-	-	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1025G>A	19.37:g.23544756C>T	ENSP00000300619:p.Arg342Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R342K	ENST00000300619.7	37	c.1025	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698409	0.15106	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.18338	2.22;2.22	2.15	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.05280	-0.08	0.09310	N	1	B;B	0.31485	0.325;0.109	B;B	0.29942	0.109;0.109	T	0.33752	-0.9856	9	0.39692	T	0.17	.	5.9371	0.19171	0.0:0.6965:0.0:0.3035	.	310;342	Q05481-2;Q05481	.;ZNF91_HUMAN	K	342;310	ENSP00000300619:R342K;ENSP00000380272:R310K	ENSP00000300619:R342K	R	-	2	0	ZNF91	23336596	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-2.511000	0.00958	0.232000	0.21100	0.162000	0.16502	AGA	ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.373	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	116	0.00	0	C	NM_003430		23544756	23544756	-1	no_errors	ENST00000300619	ensembl	human	known	69_37n	missense	55	27.63	21	SNP	0.021	T
ZNF92	168374	genome.wustl.edu	37	7	64863380	64863380	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:64863380A>C	ENST00000328747.7	+	4	552	c.353A>C	c.(352-354)aAa>aCa	p.K118T	ZNF92_ENST00000431504.1_Missense_Mutation_p.K42T|ZNF92_ENST00000450302.2_Missense_Mutation_p.K49T|ZNF92_ENST00000357512.2_Missense_Mutation_p.K86T	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	118					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AAAGACCATAAAAGTGTGGAT	0.358																																						dbGAP											0													91.0	94.0	93.0					7																	64863380		2203	4299	6502	-	-	-	SO:0001583	missense	0			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.353A>C	7.37:g.64863380A>C	ENSP00000332595:p.Lys118Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K118T	ENST00000328747.7	37	c.353	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	A	4.039	0.004885	0.07866	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.06142	3.49;3.34;3.41;3.35	0.427	0.427	0.16489	.	.	.	.	.	T	0.11965	0.0291	M	0.87180	2.865	0.09310	N	1	B;B	0.29988	0.264;0.175	B;B	0.34652	0.187;0.077	T	0.20638	-1.0269	9	0.51188	T	0.08	.	5.1591	0.15050	0.9999:0.0:1.0E-4:0.0	.	86;118	Q03936-3;Q03936	.;ZNF92_HUMAN	T	118;42;86;49	ENSP00000332595:K118T;ENSP00000400495:K42T;ENSP00000350113:K86T;ENSP00000396126:K49T	ENSP00000332595:K118T	K	+	2	0	ZNF92	64500815	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.948000	0.03897	0.388000	0.25054	0.383000	0.25322	AAA	ZNF92	-	NULL	ENSG00000146757		0.358	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2	191	0.00	0	A	NM_152626		64863380	64863380	+1	no_errors	ENST00000328747	ensembl	human	known	69_37n	missense	190	14.80	33	SNP	0.003	C
ZNF93	81931	genome.wustl.edu	37	19	20044991	20044991	+	Silent	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:20044991C>A	ENST00000343769.5	+	4	1255	c.1227C>A	c.(1225-1227)tcC>tcA	p.S409S	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TTAAGTACTCCTCTACCCTTA	0.418																																						dbGAP											0													59.0	61.0	60.0					19																	20044991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1227C>A	19.37:g.20044991C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S409	ENST00000343769.5	37	c.1227	CCDS32973.1	19																																																																																			ZNF93	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.418	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	91	0.00	0	C	NM_031218		20044991	20044991	+1	no_errors	ENST00000343769	ensembl	human	known	69_37n	silent	70	15.66	13	SNP	0.000	A
ZNF93	81931	genome.wustl.edu	37	19	20045416	20045416	+	Missense_Mutation	SNP	A	A	G	rs371727972		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:20045416A>G	ENST00000343769.5	+	4	1680	c.1652A>G	c.(1651-1653)cAc>cGc	p.H551R	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTATCCACACACCTTACTACA	0.363																																						dbGAP											0													41.0	46.0	44.0					19																	20045416		2200	4300	6500	-	-	-	SO:0001583	missense	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1652A>G	19.37:g.20045416A>G	ENSP00000342002:p.His551Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H551R	ENST00000343769.5	37	c.1652	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	0.943	-0.708812	0.03230	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.12984	2.63	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07098	0.0180	L	0.39326	1.205	0.09310	N	1	P	0.44195	0.828	B	0.28305	0.088	T	0.33954	-0.9848	9	0.22109	T	0.4	.	5.4501	0.16560	1.0:0.0:0.0:0.0	.	551	P35789	ZNF93_HUMAN	R	551;523	ENSP00000342002:H551R	ENSP00000342002:H551R	H	+	2	0	ZNF93	19906416	0.000000	0.05858	0.085000	0.20634	0.084000	0.17831	-0.174000	0.09839	0.166000	0.19597	0.164000	0.16699	CAC	ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.363	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	172	0.00	0	A	NM_031218		20045416	20045416	+1	no_errors	ENST00000343769	ensembl	human	known	69_37n	missense	104	15.45	19	SNP	0.001	G
ZNF99	7652	genome.wustl.edu	37	19	22939391	22939391	+	IGR	SNP	T	T	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:22939391T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.Q927R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTGTGAGGATTGCTTAAAAGC	0.378																																						dbGAP											0													37.0	50.0	45.0					19																	22939391		1954	4261	6215	-	-	-	SO:0001628	intergenic_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939391T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q927R	ENST00000596209.1	37	c.2780	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	0.021	-1.423764	0.01126	.	.	ENSG00000213973	ENST00000397104	T	0.17054	2.3	1.3	-0.115	0.13560	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.18871	0.023	T	0.41016	-0.9532	8	0.18710	T	0.47	.	1.9707	0.03406	0.2655:0.183:0.0:0.5515	.	927	A8MXY4	ZNF99_HUMAN	R	927	ENSP00000380293:Q927R	ENSP00000380293:Q927R	Q	-	2	0	ZNF99	22731231	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.458000	0.00121	-0.318000	0.08665	0.318000	0.21364	CAA	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	106	0.00	0	T	XM_065124		22939391	22939391	-1	no_errors	ENST00000397104	ensembl	human	known	69_37n	missense	108	22.86	32	SNP	0.000	C
ZNFX1	57169	genome.wustl.edu	37	20	47865202	47865202	+	Silent	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:47865202G>A	ENST00000396105.1	-	14	4605	c.4359C>T	c.(4357-4359)ttC>ttT	p.F1453F	ZNFX1_ENST00000371752.1_Silent_p.F1453F|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1453							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AACGCCCTTCGAAGCAGCTGT	0.577																																						dbGAP											0													46.0	45.0	45.0					20																	47865202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4359C>T	20.37:g.47865202G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.F1453	ENST00000396105.1	37	c.4359	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.577	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	82	0.00	0	G	NM_021035		47865202	47865202	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	silent	47	16.07	9	SNP	0.000	A
ZP2	7783	genome.wustl.edu	37	16	21213571	21213571	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr16:21213571C>T	ENST00000574002.1	-	12	1623	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	ZP2_ENST00000574091.1_Missense_Mutation_p.E381K|ZP2_ENST00000219593.4_Missense_Mutation_p.E381K|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	381	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTGTAGACCTCGACGTCCATA	0.512																																						dbGAP											0													93.0	85.0	88.0					16																	21213571		2200	4300	6500	-	-	-	SO:0001583	missense	0			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1141G>A	16.37:g.21213571C>T	ENSP00000460971:p.Glu381Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.E381K	ENST00000574002.1	37	c.1141	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183861	0.57800	.	.	ENSG00000103310	ENST00000219593	D	0.82081	-1.57	6.08	2.99	0.34606	Zona pellucida sperm-binding protein (3);	0.275863	0.35838	N	0.002959	T	0.75649	0.3878	L	0.41906	1.305	0.38852	D	0.9563	P;P	0.49253	0.921;0.921	B;P	0.45506	0.405;0.483	T	0.69978	-0.4998	10	0.25751	T	0.34	-9.9821	8.2661	0.31815	0.0:0.7143:0.1401:0.1456	.	381;381	Q4VAP1;Q05996	.;ZP2_HUMAN	K	381	ENSP00000219593:E381K	ENSP00000219593:E381K	E	-	1	0	ZP2	21121072	0.070000	0.21116	0.386000	0.26170	0.739000	0.42172	0.312000	0.19397	0.393000	0.25203	-0.140000	0.14226	GAG	ZP2	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000103310		0.512	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	202	0.00	0	C			21213571	21213571	-1	no_errors	ENST00000219593	ensembl	human	known	69_37n	missense	118	13.87	19	SNP	0.911	T
ZP4	57829	genome.wustl.edu	37	1	238046140	238046140	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:238046140C>A	ENST00000366570.4	-	11	1555	c.1397G>T	c.(1396-1398)aGa>aTa	p.R466I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	466	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCAAAATTTCTTCTTCCTGT	0.418																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											0													87.0	90.0	89.0					1																	238046140		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1397G>T	1.37:g.238046140C>A	ENSP00000355529:p.Arg466Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.R466I	ENST00000366570.4	37	c.1397	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162632	0.38217	.	.	ENSG00000116996	ENST00000366570	T	0.80214	-1.35	3.77	1.79	0.24919	Zona pellucida sperm-binding protein (1);	0.052140	0.85682	D	0.000000	D	0.88746	0.6520	M	0.87547	2.89	0.36233	D	0.852747	D	0.89917	1.0	D	0.85130	0.997	D	0.89504	0.3766	10	0.87932	D	0	-2.2358	8.6634	0.34106	0.4151:0.5849:0.0:0.0	.	466	Q12836	ZP4_HUMAN	I	466	ENSP00000355529:R466I	ENSP00000355529:R466I	R	-	2	0	ZP4	236112763	0.994000	0.37717	0.766000	0.31476	0.435000	0.31806	1.978000	0.40598	0.386000	0.24997	-0.338000	0.08134	AGA	ZP4	-	pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000116996		0.418	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	160	0.00	0	C			238046140	238046140	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	missense	153	10.00	17	SNP	0.926	A
ZPBP	11055	genome.wustl.edu	37	7	50121432	50121432	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:50121432C>T	ENST00000046087.2	-	3	341	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ZPBP_ENST00000419417.1_Missense_Mutation_p.R91Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	91					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTCAGCATTTCGCAGTTGTTG	0.338																																						dbGAP											0													133.0	124.0	127.0					7																	50121432		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.272G>A	7.37:g.50121432C>T	ENSP00000046087:p.Arg91Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like	p.R91Q	ENST00000046087.2	37	c.272	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205095	0.79127	.	.	ENSG00000042813	ENST00000046087;ENST00000419417;ENST00000450231	T;T;T	0.53640	0.61;0.61;0.61	5.1	5.1	0.69264	Immunoglobulin-like (1);	0.000000	0.44483	D	0.000447	T	0.63153	0.2487	M	0.68317	2.08	0.38417	D	0.946086	D;D	0.76494	0.999;0.999	P;P	0.60949	0.881;0.881	T	0.66582	-0.5887	9	.	.	.	-13.3442	15.4299	0.75084	0.0:1.0:0.0:0.0	.	91;91	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	Q	91;91;52	ENSP00000046087:R91Q;ENSP00000402071:R91Q;ENSP00000390054:R52Q	.	R	-	2	0	ZPBP	50091978	0.998000	0.40836	0.721000	0.30653	0.602000	0.36980	4.104000	0.57790	2.375000	0.81037	0.460000	0.39030	CGA	ZPBP	-	pfam_Sp38-bd,pfscan_Ig-like	ENSG00000042813		0.338	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	547	0.00	0	C	NM_007009		50121432	50121432	-1	no_errors	ENST00000046087	ensembl	human	known	69_37n	missense	332	12.86	49	SNP	0.995	T
ZPLD1	131368	genome.wustl.edu	37	3	102171790	102171790	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:102171790G>T	ENST00000491959.1	+	10	1016	c.134G>T	c.(133-135)gGa>gTa	p.G45V	ZPLD1_ENST00000306176.1_Missense_Mutation_p.G61V|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G45V			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	45	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTCTATTGTGGAGTGCAGGCT	0.373																																						dbGAP											0													73.0	73.0	73.0					3																	102171790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.134G>T	3.37:g.102171790G>T	ENSP00000420265:p.Gly45Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AS1|Q8WU36	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	p.G61V	ENST00000491959.1	37	c.182		3	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843972	0.71488	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.83250	-1.7;-1.7;-1.7	5.99	5.99	0.97316	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88757	0.3254	10	0.32370	T	0.25	-15.8076	20.4777	0.99188	0.0:0.0:1.0:0.0	.	61;45	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	V	45;61;45	ENSP00000420265:G45V;ENSP00000307801:G61V;ENSP00000418253:G45V	ENSP00000307801:G61V	G	+	2	0	ZPLD1	103654480	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	9.357000	0.97099	2.840000	0.97914	0.655000	0.94253	GGA	ZPLD1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000170044		0.373	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	ZPLD1	HGNC	protein_coding	OTTHUMT00000353984.1	66	0.00	0	G	NM_175056		102171790	102171790	+1	no_errors	ENST00000306176	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	1.000	T
ZRANB1	54764	genome.wustl.edu	37	10	126631661	126631661	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:126631661G>T	ENST00000359653.4	+	1	970	c.599G>T	c.(598-600)aGa>aTa	p.R200I	RP11-298J20.3_ENST00000449984.1_RNA|RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	200					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GAGCAAGACAGAGCTCGATGG	0.423																																						dbGAP											0													64.0	65.0	65.0					10																	126631661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.599G>T	10.37:g.126631661G>T	ENSP00000352676:p.Arg200Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.R200I	ENST00000359653.4	37	c.599	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504563	0.64410	.	.	ENSG00000019995	ENST00000359653	T	0.17691	2.26	5.74	5.74	0.90152	.	0.197330	0.52532	D	0.000074	T	0.20088	0.0483	L	0.44542	1.39	0.80722	D	1	B	0.20671	0.047	B	0.17433	0.018	T	0.01753	-1.1281	10	0.49607	T	0.09	-29.0687	19.9346	0.97133	0.0:0.0:1.0:0.0	.	200	Q9UGI0	ZRAN1_HUMAN	I	200	ENSP00000352676:R200I	ENSP00000352676:R200I	R	+	2	0	ZRANB1	126621651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.247000	0.78257	2.712000	0.92718	0.563000	0.77884	AGA	ZRANB1	-	NULL	ENSG00000019995		0.423	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	182	0.00	0	G	NM_017580		126631661	126631661	+1	no_errors	ENST00000359653	ensembl	human	known	69_37n	missense	120	22.58	35	SNP	1.000	T
ZRANB1	54764	genome.wustl.edu	37	10	126673446	126673446	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr10:126673446G>A	ENST00000359653.4	+	9	2383	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	671					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TCTCGGCGGCGAAATCACCCC	0.547																																						dbGAP											0													73.0	66.0	69.0					10																	126673446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.2012G>A	10.37:g.126673446G>A	ENSP00000352676:p.Arg671Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.R671Q	ENST00000359653.4	37	c.2012	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277892	0.80692	.	.	ENSG00000019995	ENST00000359653	T	0.18174	2.23	5.27	5.27	0.74061	.	0.056759	0.64402	D	0.000001	T	0.16685	0.0401	L	0.44542	1.39	0.80722	D	1	D	0.57257	0.979	B	0.37346	0.247	T	0.02417	-1.1162	10	0.51188	T	0.08	-20.7387	19.0693	0.93126	0.0:0.0:1.0:0.0	.	671	Q9UGI0	ZRAN1_HUMAN	Q	671	ENSP00000352676:R671Q	ENSP00000352676:R671Q	R	+	2	0	ZRANB1	126663436	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	9.259000	0.95561	2.733000	0.93635	0.650000	0.86243	CGA	ZRANB1	-	NULL	ENSG00000019995		0.547	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	213	0.00	0	G	NM_017580		126673446	126673446	+1	no_errors	ENST00000359653	ensembl	human	known	69_37n	missense	151	14.20	25	SNP	1.000	A
ZSCAN20	7579	genome.wustl.edu	37	1	33956699	33956699	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:33956699A>C	ENST00000361328.3	+	6	994	c.841A>C	c.(841-843)Aat>Cat	p.N281H	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.N227H	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	281					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGTCTTATAAATTCTGGGAA	0.458																																						dbGAP											0													52.0	52.0	52.0					1																	33956699		1843	4108	5951	-	-	-	SO:0001583	missense	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.841A>C	1.37:g.33956699A>C	ENSP00000355053:p.Asn281His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N281H	ENST00000361328.3	37	c.841	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438934	0.43326	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.01981	4.52	5.64	4.37	0.52481	.	0.376060	0.26149	N	0.026045	T	0.05090	0.0136	L	0.49350	1.555	0.24340	N	0.994961	D;D;P	0.56035	0.965;0.974;0.94	P;P;P	0.56474	0.799;0.748;0.635	T	0.32824	-0.9892	10	0.37606	T	0.19	-9.7131	5.8956	0.18937	0.86:0.0:0.14:0.0	.	281;227;281	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	H	227;281;227;215;215	ENSP00000362512:N227H	ENSP00000324450:N281H	N	+	1	0	ZSCAN20	33729286	0.001000	0.12720	0.493000	0.27502	0.447000	0.32167	0.828000	0.27435	2.288000	0.76882	0.533000	0.62120	AAT	ZSCAN20	-	NULL	ENSG00000121903		0.458	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	103	0.00	0	A	NM_145238		33956699	33956699	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	missense	59	13.24	9	SNP	0.554	C
ZSCAN20	7579	genome.wustl.edu	37	1	33960301	33960301	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:33960301G>A	ENST00000361328.3	+	8	2510	c.2357G>A	c.(2356-2358)aGa>aAa	p.R786K		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	786					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R786I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACTCACCAGAGAATTCACACG	0.438																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											77.0	81.0	80.0					1																	33960301		2076	4248	6324	-	-	-	SO:0001583	missense	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2357G>A	1.37:g.33960301G>A	ENSP00000355053:p.Arg786Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R786K	ENST00000361328.3	37	c.2357	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189594	0.57909	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000006	T	0.47801	0.1465	L	0.52266	1.64	0.31303	N	0.688048	B;B	0.30634	0.288;0.03	B;B	0.29524	0.103;0.038	T	0.58713	-0.7588	9	0.66056	D	0.02	-12.6913	13.1341	0.59399	0.0781:0.0:0.9219:0.0	.	785;786	P17040-3;P17040	.;ZSC20_HUMAN	K	786;720;720	.	ENSP00000324450:R786K	R	+	2	0	ZSCAN20	33732888	0.717000	0.27966	0.986000	0.45419	0.970000	0.65996	3.804000	0.55568	1.469000	0.48083	0.561000	0.74099	AGA	ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121903		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	121	0.00	0	G	NM_145238		33960301	33960301	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	missense	69	25.81	24	SNP	0.998	A
ZSCAN20	7579	genome.wustl.edu	37	1	33960728	33960728	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:33960728G>T	ENST00000361328.3	+	8	2937	c.2784G>T	c.(2782-2784)gaG>gaT	p.E928D		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	928					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACACTGGAGAGAAGCCGTATA	0.527																																						dbGAP											0													69.0	80.0	76.0					1																	33960728		2148	4278	6426	-	-	-	SO:0001583	missense	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2784G>T	1.37:g.33960728G>T	ENSP00000355053:p.Glu928Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E928D	ENST00000361328.3	37	c.2784	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338326	0.60963	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.66	1.72	0.24424	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000010	T	0.56140	0.1965	L	0.31294	0.92	0.34684	D	0.724991	D;D	0.65815	0.995;0.987	D;D	0.75484	0.986;0.981	T	0.64702	-0.6345	9	0.72032	D	0.01	-16.7569	9.0592	0.36425	0.3116:0.0:0.6884:0.0	.	927;928	P17040-3;P17040	.;ZSC20_HUMAN	D	928;862;862	.	ENSP00000324450:E928D	E	+	3	2	ZSCAN20	33733315	0.993000	0.37304	1.000000	0.80357	0.731000	0.41821	0.277000	0.18734	0.340000	0.23745	0.655000	0.94253	GAG	ZSCAN20	-	pfscan_Znf_C2H2	ENSG00000121903		0.527	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	353	0.00	0	G	NM_145238		33960728	33960728	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	missense	176	19.73	44	SNP	1.000	T
ZSCAN21	7589	genome.wustl.edu	37	7	99661992	99661992	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr7:99661992G>A	ENST00000292450.4	+	4	1338	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	ZSCAN21_ENST00000543588.1_Silent_p.T357T|ZSCAN21_ENST00000456748.2_Silent_p.T357T|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	392					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCAGTGTAACGAATGTGGGAA	0.527																																						dbGAP											0													90.0	85.0	86.0					7																	99661992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1174G>A	7.37:g.99661992G>A	ENSP00000292450:p.Glu392Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E392K	ENST00000292450.4	37	c.1174	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134270	0.56828	.	.	ENSG00000166529	ENST00000292450;ENST00000379635	T	0.07327	3.2	4.24	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000690	T	0.09024	0.0223	N	0.20685	0.6	0.45704	D	0.99861	D	0.57257	0.979	P	0.51055	0.657	T	0.23119	-1.0197	10	0.39692	T	0.17	.	12.0046	0.53251	0.0:0.1765:0.8235:0.0	.	392	Q9Y5A6	ZSC21_HUMAN	K	392;367	ENSP00000292450:E392K	ENSP00000292450:E392K	E	+	1	0	ZSCAN21	99499928	0.017000	0.18338	0.999000	0.59377	0.995000	0.86356	0.642000	0.24735	2.382000	0.81193	0.655000	0.94253	GAA	ZSCAN21	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000166529		0.527	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	HGNC	protein_coding	OTTHUMT00000336166.1	88	0.00	0	G	NM_145914		99661992	99661992	+1	no_errors	ENST00000292450	ensembl	human	known	69_37n	missense	64	14.47	11	SNP	0.591	A
ZSCAN5B	342933	genome.wustl.edu	37	19	56701489	56701489	+	Nonsense_Mutation	SNP	G	G	A	rs377383565		TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56701489G>A	ENST00000586855.2	-	5	1508	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.R399*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	399					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGGTGAACTCGGAGGTCTGAG	0.557																																						dbGAP											0													75.0	78.0	77.0					19																	56701489		2182	4281	6463	-	-	-	SO:0001587	stop_gained	0				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1195C>T	19.37:g.56701489G>A	ENSP00000466072:p.Arg399*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R399*	ENST00000586855.2	37	c.1195	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992199	0.35131	.	.	ENSG00000197213	ENST00000358992	.	.	.	3.15	-0.083	0.13696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3684	0.38239	0.0:0.0:0.5:0.5	.	.	.	.	X	399	.	ENSP00000351883:R399X	R	-	1	2	ZSCAN5B	61393301	0.000000	0.05858	0.292000	0.24919	0.070000	0.16714	-1.010000	0.03656	0.119000	0.18210	0.306000	0.20318	CGA	ZSCAN5B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197213		0.557	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	343	0.00	0	G	NM_001080456		56701489	56701489	-1	no_errors	ENST00000358992	ensembl	human	known	69_37n	nonsense	323	14.06	53	SNP	0.021	A
ZSCAN5A	79149	genome.wustl.edu	37	19	56734058	56734058	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr19:56734058G>T	ENST00000587340.1	-	6	1336	c.641C>A	c.(640-642)tCt>tAt	p.S214Y	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S214Y|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S214Y|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S97Y|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S68Y			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	214					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S214Y(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTCTCAGAGACTTTGGGTC	0.498																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											211.0	175.0	187.0					19																	56734058		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.641C>A	19.37:g.56734058G>T	ENSP00000467631:p.Ser214Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S214Y	ENST00000587340.1	37	c.641	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	G	7.322	0.617077	0.14129	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06068	3.35;3.35	2.05	-3.32	0.04973	.	.	.	.	.	T	0.04227	0.0117	L	0.44542	1.39	0.09310	N	1	P;P	0.41748	0.761;0.641	B;B	0.35413	0.202;0.202	T	0.23583	-1.0184	9	0.72032	D	0.01	.	1.5805	0.02633	0.1932:0.2553:0.4021:0.1493	.	97;214	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	Y	214;97	ENSP00000375593:S214Y;ENSP00000254165:S97Y	ENSP00000254165:S97Y	S	-	2	0	ZSCAN5A	61425870	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.394000	0.07296	-0.770000	0.04614	-1.157000	0.01802	TCT	ZSCAN5A	-	NULL	ENSG00000131848		0.498	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	460	0.00	0	G	NM_024303		56734058	56734058	-1	no_errors	ENST00000391713	ensembl	human	known	69_37n	missense	391	11.94	53	SNP	0.000	T
ZSWIM3	140831	genome.wustl.edu	37	20	44507046	44507046	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr20:44507046G>A	ENST00000255152.2	+	2	2058	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.D611N|ZSWIM1_ENST00000372523.1_5'Flank|ZSWIM1_ENST00000372520.1_5'Flank	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	617							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGGACGGAACGACATGATTCA	0.572																																						dbGAP											0													117.0	91.0	100.0					20																	44507046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1849G>A	20.37:g.44507046G>A	ENSP00000255152:p.Asp617Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.D617N	ENST00000255152.2	37	c.1849	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	G	0.081	-1.183885	0.01620	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23950	1.91;1.88	5.27	-1.47	0.08772	.	0.946552	0.08943	N	0.871306	T	0.12732	0.0309	N	0.17082	0.46	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.12156	0.007;0.004	T	0.37244	-0.9714	10	0.17369	T	0.5	-2.2011	6.3912	0.21587	0.2489:0.2338:0.5173:0.0	.	611;617	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	N	617;611	ENSP00000255152:D617N;ENSP00000406313:D611N	ENSP00000255152:D617N	D	+	1	0	ZSWIM3	43940453	0.003000	0.15002	0.000000	0.03702	0.809000	0.45718	0.213000	0.17521	-0.379000	0.07906	-0.339000	0.08088	GAC	ZSWIM3	-	NULL	ENSG00000132801		0.572	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	105	0.00	0	G	NM_080752		44507046	44507046	+1	no_errors	ENST00000255152	ensembl	human	known	69_37n	missense	82	10.75	10	SNP	0.000	A
ZSWIM6	57688	genome.wustl.edu	37	5	60768861	60768861	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr5:60768861C>A	ENST00000252744.5	+	2	1030	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	344					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						CAACCAAGTTCATGGTGAGTA	0.328																																						dbGAP											0													10.0	8.0	9.0					5																	60768861		683	1569	2252	-	-	-	SO:0001583	missense	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.1030C>A	5.37:g.60768861C>A	ENSP00000252744:p.His344Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.H344N	ENST00000252744.5	37	c.1030	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838329	0.51057	.	.	ENSG00000130449	ENST00000252744	T	0.21191	2.02	5.75	5.75	0.90469	.	.	.	.	.	T	0.25606	0.0623	L	0.54323	1.7	0.80722	D	1	B	0.17852	0.024	B	0.20577	0.03	T	0.03231	-1.1058	9	0.24483	T	0.36	-4.6166	19.9149	0.97057	0.0:1.0:0.0:0.0	.	344	Q9HCJ5	ZSWM6_HUMAN	N	344	ENSP00000252744:H344N	ENSP00000252744:H344N	H	+	1	0	ZSWIM6	60804618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.775000	0.85489	2.878000	0.98634	0.650000	0.86243	CAT	ZSWIM6	-	NULL	ENSG00000130449		0.328	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	32	0.00	0	C	NM_020928		60768861	60768861	+1	no_errors	ENST00000252744	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	1.000	A
ZUFSP	221302	genome.wustl.edu	37	6	116977936	116977936	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr6:116977936C>T	ENST00000368576.3	-	5	1115	c.872G>A	c.(871-873)aGa>aAa	p.R291K	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	291							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TGGAGGCATTCTTCCCCTATT	0.328																																						dbGAP											0													121.0	109.0	113.0					6																	116977936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.872G>A	6.37:g.116977936C>T	ENSP00000357565:p.Arg291Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R291K	ENST00000368576.3	37	c.872	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054948	0.36277	.	.	ENSG00000153975	ENST00000368576	T	0.41065	1.01	5.42	5.42	0.78866	.	0.159101	0.56097	D	0.000033	T	0.28797	0.0714	L	0.53249	1.67	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.05954	-1.0854	10	0.33141	T	0.24	-14.3241	19.2024	0.93715	0.0:1.0:0.0:0.0	.	291	Q96AP4	ZUFSP_HUMAN	K	291	ENSP00000357565:R291K	ENSP00000357565:R291K	R	-	2	0	ZUFSP	117084629	0.968000	0.33430	1.000000	0.80357	0.995000	0.86356	1.028000	0.30128	2.517000	0.84864	0.561000	0.74099	AGA	ZUFSP	-	NULL	ENSG00000153975		0.328	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	HGNC	protein_coding	OTTHUMT00000041961.1	535	0.00	0	C	NM_145062		116977936	116977936	-1	no_errors	ENST00000368576	ensembl	human	known	69_37n	missense	395	10.23	45	SNP	1.000	T
ZXDC	79364	genome.wustl.edu	37	3	126180577	126180577	+	Missense_Mutation	SNP	G	G	A	rs138387718	byFrequency	TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr3:126180577G>A	ENST00000389709.3	-	6	1981	c.1928C>T	c.(1927-1929)tCg>tTg	p.S643L	ZXDC_ENST00000336332.5_Missense_Mutation_p.S643L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	643	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGGGGTGCTCGAAGAGGTCGG	0.577													G|||	9	0.00179712	0.0	0.0	5008	,	,		21030	0.0089		0.0	False		,,,				2504	0.0					dbGAP											0													95.0	100.0	98.0					3																	126180577		2076	4202	6278	-	-	-	SO:0001583	missense	0			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1928C>T	3.37:g.126180577G>A	ENSP00000374359:p.Ser643Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S643L	ENST00000389709.3	37	c.1928	CCDS43145.1	3	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	9.550	1.115594	0.20795	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.09723	2.95;2.95	4.6	4.6	0.57074	.	0.630566	0.16283	N	0.221268	T	0.05181	0.0138	L	0.38175	1.15	0.38573	D	0.949991	P;P	0.39404	0.593;0.672	B;B	0.27887	0.043;0.084	T	0.18555	-1.0333	10	0.72032	D	0.01	-1.1946	9.0214	0.36202	0.1032:0.0:0.8968:0.0	.	643;643	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	L	643	ENSP00000374359:S643L;ENSP00000337694:S643L	ENSP00000337694:S643L	S	-	2	0	ZXDC	127663267	1.000000	0.71417	0.315000	0.25238	0.016000	0.09150	5.954000	0.70298	2.254000	0.74563	0.591000	0.81541	TCG	ZXDC	-	NULL	ENSG00000070476		0.577	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	133	0.00	0	G	NM_025112		126180577	126180577	-1	no_errors	ENST00000389709	ensembl	human	known	69_37n	missense	81	25.00	27	SNP	0.724	A
ZYG11B	79699	genome.wustl.edu	37	1	53267547	53267547	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr1:53267547G>T	ENST00000294353.6	+	9	1687	c.1542G>T	c.(1540-1542)ttG>ttT	p.L514F	ZYG11B_ENST00000545132.1_Missense_Mutation_p.L514F|ZYG11B_ENST00000443756.2_Intron	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	514										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACACTACATTGAAATTTACTT	0.343																																						dbGAP											0													61.0	59.0	60.0					1																	53267547		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1542G>T	1.37:g.53267547G>T	ENSP00000294353:p.Leu514Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L514F	ENST00000294353.6	37	c.1542	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037786	0.35989	.	.	ENSG00000162378	ENST00000545132;ENST00000294353	T;T	0.66099	-0.19;0.43	5.44	4.47	0.54385	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.71206	2.165	0.48632	D	0.999686	B	0.33288	0.406	B	0.31191	0.125	T	0.60811	-0.7189	10	0.41790	T	0.15	.	11.2345	0.48931	0.0:0.1903:0.6342:0.1755	.	514	Q9C0D3	ZY11B_HUMAN	F	514	ENSP00000441315:L514F;ENSP00000294353:L514F	ENSP00000294353:L514F	L	+	3	2	ZYG11B	53040135	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.120000	0.31271	2.545000	0.85829	0.591000	0.81541	TTG	ZYG11B	-	superfamily_ARM-type_fold	ENSG00000162378		0.343	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1	240	0.41	1	G	NM_024646		53267547	53267547	+1	no_errors	ENST00000294353	ensembl	human	known	69_37n	missense	129	11.03	16	SNP	0.999	T
ZZEF1	23140	genome.wustl.edu	37	17	3962535	3962535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A046-01A-21W-A050-09	TCGA-AN-A046-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	696dfa31-8ff8-4b4f-a6e5-b59c34fae1f7	7fd1a063-e742-4ebc-acbd-c81ba11f1cc3	g.chr17:3962535G>A	ENST00000381638.2	-	31	5057	c.4933C>T	c.(4933-4935)Cga>Tga	p.R1645*	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1645							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R1645*(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAAGTGTCTCGAATTTCTTTG	0.363																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											93.0	89.0	90.0					17																	3962535		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4933C>T	17.37:g.3962535G>A	ENSP00000371051:p.Arg1645*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.R1645*	ENST00000381638.2	37	c.4933	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623732	0.66901	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8145	13.7494	0.62897	0.0:0.0:0.8462:0.1538	.	.	.	.	X	1645	.	ENSP00000371051:R1645X	R	-	1	2	ZZEF1	3909284	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	2.543000	0.45752	2.447000	0.82792	0.555000	0.69702	CGA	ZZEF1	-	NULL	ENSG00000074755		0.363	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	403	0.00	0	G	NM_015113		3962535	3962535	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	nonsense	221	13.33	34	SNP	1.000	A
